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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Breast Diseases (D001941)
Parent Node: Neoplasms by Site (D009371)
..Starting node ..Breast Neoplasms (D001943)
Child Nodes:
........Angiosarcoma of the breast (C536368)
........Breast Cancer 3 (C565336)
........BREAST CANCER, 11-22 TRANSLOCATION-ASSOCIATED (OMIM:600048)
........Breast Cancer, Familial (C562840)
........Breast Neoplasms, Male (D018567) 1
........BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 (OMIM:604370)
........BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 (OMIM:612555)
........BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 (OMIM:613399)
........Carcinoma, Ductal, Breast (D018270)
........Hereditary Breast and Ovarian Cancer Syndrome (D061325)
........Inflammatory Breast Neoplasms (D058922)
........Mammographic Density (C564595)
........Papillomatosis, florid, of nipple (C537167)
........Radiation induced angiosarcoma of the breast (C536264)
........Secretory breast carcinoma (C537535)
........Triple Negative Breast Neoplasms (D064726)
Sister Nodes:
..Abdominal Neoplasms (D000008) 7
..Anal Gland Neoplasms (D000694)
..Bone Neoplasms (D001859) 29
..Breast Neoplasms (D001943) 17
..Digestive System Neoplasms (D004067) 99
..Endocrine Gland Neoplasms (D004701) 89
..Eye Neoplasms (D005134) 20
..Head and Neck Neoplasms (D006258) 59
..Hematologic Neoplasms (D019337) 1
..Mammary Neoplasms, Animal (D015674) 1
..Nervous System Neoplasms (D009423) 89
..Pelvic Neoplasms (D010386)
..Skin Neoplasms (D012878) 41
..Soft Tissue Neoplasms (D012983) 3
..Splenic Neoplasms (D013160) 1
..Thoracic Neoplasms (D013899) 40
..Urogenital Neoplasms (D014565) 103
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1477

Name:

Breast Neoplasms

Definition:

Tumors or cancer of the human BREAST.

Alternative IDs:

OMIM:114480

ParentIDs:

MESH:D001941|MESH:D009371

TreeNumbers:

C04.588.180 |C17.800.090.500

Synonyms:

Slim Mappings:

Cancer|Skin disease

Reference:

MedGen: D001943
MeSH: D001943
OMIM: 114480;

Genes: AKT1; ATM; BARD1; BRCA2; BRIP1; CASP8; CDH1; CHEK2; ESR1; HMMR; KRAS; NQO2; PALB2; PHB; PIK3CA; PPM1D; RAD51; RAD54L; RB1CC1; SLC22A18; TP53; TSG101; XRCC3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003002	Breast carcinoma
3	HP:0001425	Heterogeneous

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_024675.3(PALB2):c.-227T>G	-1	-	Likely benign	515726055	RCV000114441;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652705	23652705	NM_024675.3:c.-227T>G		16:g.23652705A>C	PALB2 database:PALB2_10206	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.-359G>C	-1	-	Benign	515726057	RCV000114444;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652837	23652837	NM_024675.3:c.-359G>C		16:g.23652837C>G	PALB2 database:PALB2_10009	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.*733G>A	-1	-	Uncertain significance	112770009	RCV000162275;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91509628	91509628	NM_003981.3:c.*733G>A		NC_000015.9:g.91509628C>T	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.*627T>C	-1	-	Uncertain significance	14280	RCV000162270;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91509734	91509734	NM_003981.3:c.*627T>C		NC_000015.9:g.91509734A>G	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.*441C>A	-1	-	Uncertain significance	3743450	RCV000162274;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91509920	91509920	NM_003981.3:c.*441C>A		NC_000015.9:g.91509920G>T	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.*342A>G	-1	-	Uncertain significance	112187198	RCV000162273;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91510019	91510019	NM_003981.3:c.*342A>G		NC_000015.9:g.91510019T>C	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.1792-828T>C	-1	-	Uncertain significance	12910825	RCV000162269;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91511260	91511260	NM_003981.3:c.1792-828T>C		NC_000015.9:g.91511260A>G	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.1532A>G (p.Tyr511Cys)	-1	-	Uncertain significance	12911192	RCV000162268;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91513674	91513674	NM_003981.3:c.1532A>G	NP_003972.1:p.Tyr511Cys	NC_000015.9:g.91513674T>C	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.1351-3C>T	-1	-	Uncertain significance	17636091	RCV000162266;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91517479	91517479	NM_003981.3:c.1351-3C>T		NC_000015.9:g.91517479G>A	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.1351-124_1351-123insoAC068831.17:g.63209_63266	-1	-	Uncertain significance	71463782	RCV000162272;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91517599	91517600	NM_003981.3:c.1351-124_1351-123insoAC068831.17:g.63209_63266			-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.1350+35C>G	-1	-	Uncertain significance	12898311	RCV000162265;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91517780	91517780	NM_003981.3:c.1350+35C>G		NC_000015.9:g.91517780G>C	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.971-375A>G	-1	-	Uncertain significance	186031385	RCV000162264;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91522899	91522899	NM_003981.3:c.971-375A>G		NC_000015.9:g.91522899T>C	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.971-441G>A	-1	-	Uncertain significance	59025289	RCV000162263;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91522965	91522965	NM_003981.3:c.971-441G>A		NC_000015.9:g.91522965C>T	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.971-466T>C	-1	-	Uncertain significance	190852637	RCV000162261;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91522990	91522990	NM_003981.3:c.971-466T>C		NC_000015.9:g.91522990A>G	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.970+436G>A	-1	-	Uncertain significance	6496742	RCV000162260;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91523036	91523036	NM_003981.3:c.970+436G>A		NC_000015.9:g.91523036C>T	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.282G>A (p.Thr94=)	-1	-	Uncertain significance	2301826	RCV000162257;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91525197	91525197	NM_003981.3:c.282G>A	NP_003972.1:p.Thr94=	NC_000015.9:g.91525197C>T	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.268-107G>A	-1	-	Uncertain significance	11857612	RCV000162259;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91525318	91525318	NM_003981.3:c.268-107G>A		NC_000015.9:g.91525318C>T	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.268-203A>G	-1	-	Uncertain significance	11855081	RCV000162258;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91525414	91525414	NM_003981.3:c.268-203A>G		NC_000015.9:g.91525414T>C	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.145-81A>T	-1	-	Uncertain significance	8031684	RCV000162255;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91527451	91527451	NM_003981.3:c.145-81A>T		NC_000015.9:g.91527451T>A	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.12-2765T>C	-1	-	Uncertain significance	8028856	RCV000162256;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91530820	91530820	NM_003981.3:c.12-2765T>C		NC_000015.9:g.91530820A>G	-	C0346153 114480 Familial cancer of breast
NM_001127208.2(TET2):c.2131G>C (p.Glu711Gln)	-1	-	Uncertain significance	869025296	RCV000207332;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	4	106157230	106157230	NM_001127208.2:c.2131G>C	NP_001120680.1:p.Glu711Gln	NC_000004.11:g.106157230G>C	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.1913-718G>T	4363	ABCC1	Uncertain significance	35623	RCV000123396;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16169465	16169465	NM_004996.3:c.1913-718G>T		NC_000016.9:g.16169465G>T	VariO:0297	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.1913-617C>T	4363	ABCC1	Uncertain significance	35625	RCV000123397;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16169566	16169566	NM_004996.3:c.1913-617C>T		NC_000016.9:g.16169566C>T	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.1913-609G>A	4363	ABCC1	Uncertain significance	11866794	RCV000123398;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16169574	16169574	NM_004996.3:c.1913-609G>A		NC_000016.9:g.16169574G>A	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.1988+219G>T	4363	ABCC1	Uncertain significance	4148350	RCV000123399;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16170477	16170477	NM_004996.3:c.1988+219G>T		NC_000016.9:g.16170477G>T	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.1988+310C>T	4363	ABCC1	Uncertain significance	4148351	RCV000123400;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16170568	16170568	NM_004996.3:c.1988+310C>T		NC_000016.9:g.16170568C>T	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.1988+357G>T	4363	ABCC1	Uncertain significance	35626	RCV000123401;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16170615	16170615	NM_004996.3:c.1988+357G>T		NC_000016.9:g.16170615G>T	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.1988+848A>G	4363	ABCC1	association	35628	RCV000123402;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16171106	16171106	NM_004996.3:c.1988+848A>G		NC_000016.9:g.16171106A>G	VariO:0297	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.1988+890G>T	4363	ABCC1	association	4148353	RCV000123403;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16171148	16171148	NM_004996.3:c.1988+890G>T		NC_000016.9:g.16171148G>T	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.2168G>A (p.Arg723Gln)	4363	ABCC1	Uncertain significance	4148356	RCV000123404;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16177275	16177275	NM_004996.3:c.2168G>A	NP_004987.2:p.Arg723Gln	NC_000016.9:g.16177275G>A	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.2292+288G>A	4363	ABCC1	Uncertain significance	11075295	RCV000123405;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16177687	16177687	NM_004996.3:c.2292+288G>A		NC_000016.9:g.16177687G>A	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.2461-1217G>A	4363	ABCC1	association	3888565	RCV000123406;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16183045	16183045	NM_004996.3:c.2461-1217G>A		NC_000016.9:g.16183045G>A	-	C0346153 114480 Familial cancer of breast
NM_004996.3(ABCC1):c.2461-1175C>G	4363	ABCC1	Uncertain significance	3851711	RCV000123407;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	16183087	16183087	NM_004996.3:c.2461-1175C>G		NC_000016.9:g.16183087C>G	-	C0346153 114480 Familial cancer of breast
NM_052997.2(ANKRD30A):c.3771_3772delTG (p.Glu1258Thrfs)	91074	ANKRD30A	Uncertain significance	763931520	RCV000207337;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	10	37508579	37508580	NM_052997.2:c.3771_3772delTG	NP_443723.2:p.Glu1258Thrfs	NC_000010.10:g.37508579_37508580delTG	-	C0346153 114480 Familial cancer of breast
NM_000038.5(APC):c.170A>T (p.Asp57Val)	324	APC	Likely pathogenic	794729227	RCV000184048;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	5	112102057	112102057	NM_000038.5:c.170A>T	NP_000029.2:p.Asp57Val	NC_000005.9:g.112102057A>T	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1315-?_*(1_?)dup	580	BARD1	Uncertain significance	-1	RCV000200685;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593399	215634036	NM_000465.3:c.1315-?_*(1_?)dup			-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.2328C>T (p.Asp776=)	580	BARD1	Likely benign;Uncertain significance	863224673	RCV000199404; RCV000221684;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215593406	215593406	NM_000465.3:c.2328C>T	NP_000456.2:p.Asp776=	NC_000002.11:g.215593406G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.2324_2325delTT (p.Leu775Argfs)	580	BARD1	Uncertain significance	587782046	RCV000204402; RCV000130512;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593409	215593410	NM_000465.3:c.2324_2325delTT	NP_000456.2:p.Leu775Argfs	NC_000002.11:g.215593409_215593410delAA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2282G>A (p.Ser761Asn)	580	BARD1	Benign;Uncertain significance	142155101	RCV000197696; RCV000212144; RCV000115631;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215593452	215593452	NM_000465.3:c.2282G>A	NP_000456.2:p.Ser761Asn	NC_000002.11:g.215593452C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.2272G>C (p.Ala758Pro)	580	BARD1	Uncertain significance	863224672	RCV000196822;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593462	215593462	NM_000465.3:c.2272G>C	NP_000456.2:p.Ala758Pro	NC_000002.11:g.215593462C>G	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.2253G>T (p.Arg751=)	580	BARD1	Likely benign	750001065	RCV000196165; RCV000162842;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593481	215593481	NM_000465.3:c.2253G>T	NP_000456.2:p.Arg751=	NC_000002.11:g.215593481C>A,NC_000002.11:g.215593481C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2216A>G (p.Tyr739Cys)	580	BARD1	Uncertain significance	777013688	RCV000200408; RCV000220244;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215593518	215593518	NM_000465.3:c.2216A>G	NP_000456.2:p.Tyr739Cys	NC_000002.11:g.215593518T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.2212A>G (p.Ile738Val)	580	BARD1	Benign	61754118	RCV000205303; RCV000212143; RCV000128965;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215593522	215593522	NM_000465.3:c.2212A>G	NP_000456.2:p.Ile738Val	NC_000002.11:g.215593522T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.2207A>T (p.Tyr736Phe)	580	BARD1	Uncertain significance	587780028	RCV000206424; RCV000115629;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215593527	215593527	NM_000465.3:c.2207A>T	NP_000456.2:p.Tyr736Phe	NC_000002.11:g.215593527T>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000465.3(BARD1):c.2202A>G (p.Thr734=)	580	BARD1	Likely benign	786201370	RCV000205343; RCV000163487;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593532	215593532	NM_000465.3:c.2202A>G	NP_000456.2:p.Thr734=	NC_000002.11:g.215593532T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2191C>G (p.Arg731Gly)	580	BARD1	Benign;Likely benign;Uncertain significance	76744638	RCV000197435; RCV000115628;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593543	215593543	NM_000465.3:c.2191C>G	NP_000456.2:p.Arg731Gly	NC_000002.11:g.215593543G>A,NC_000002.11:g.215593543G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2191C>T (p.Arg731Cys)	580	BARD1	Uncertain significance	76744638	RCV000204878; RCV000167289;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593543	215593543	NM_000465.3:c.2191C>T	NP_000456.2:p.Arg731Cys	NC_000002.11:g.215593543G>A,NC_000002.11:g.215593543G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2178C>T (p.Pro726=)	580	BARD1	Likely benign	201873551	RCV000199932; RCV000222708;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215593556	215593556	NM_000465.3:c.2178C>T	NP_000456.2:p.Pro726=	NC_000002.11:g.215593556G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.2145G>A (p.Gln715=)	580	BARD1	Likely benign	760541330	RCV000204124;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593589	215593589	NM_000465.3:c.2145G>A	NP_000456.2:p.Gln715=	NC_000002.11:g.215593589C>T	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.2129A>T (p.Asp710Val)	580	BARD1	Uncertain significance	150121935	RCV000198509; RCV000131586;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593605	215593605	NM_000465.3:c.2129A>T	NP_000456.2:p.Asp710Val	NC_000002.11:g.215593605T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2117A>G (p.Lys706Arg)	580	BARD1	Uncertain significance	864622716	RCV000205012;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593617	215593617	NM_000465.3:c.2117A>G	NP_000456.2:p.Lys706Arg	NC_000002.11:g.215593617T>C	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.2116A>G (p.Lys706Glu)	580	BARD1	Uncertain significance	149262370	RCV000204656; RCV000115626;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593618	215593618	NM_000465.3:c.2116A>G	NP_000456.2:p.Lys706Glu	NC_000002.11:g.215593618T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2101C>G (p.Gln701Glu)	580	BARD1	Uncertain significance	587782348	RCV000204982; RCV000131288;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593633	215593633	NM_000465.3:c.2101C>G	NP_000456.2:p.Gln701Glu	NC_000002.11:g.215593633G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2075T>C (p.Ile692Thr)	580	BARD1	Likely benign;Uncertain significance	587782555	RCV000206765; RCV000131771;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593659	215593659	NM_000465.3:c.2075T>C	NP_000456.2:p.Ile692Thr	NC_000002.11:g.215593659A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.2065G>A (p.Asp689Asn)	580	BARD1	Uncertain significance	863224671	RCV000196631;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215593669	215593669	NM_000465.3:c.2065G>A	NP_000456.2:p.Asp689Asn	NC_000002.11:g.215593669C>T	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.2057A>G (p.His686Arg)	580	BARD1	Uncertain significance	864622380	RCV000204083; RCV000220357;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215593677	215593677	NM_000465.3:c.2057A>G	NP_000456.2:p.His686Arg	NC_000002.11:g.215593677T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.1977A>G (p.Arg659=)	580	BARD1	Benign;Likely benign;Uncertain significance	147215925	RCV000200663; RCV000115623;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215595159	215595159	NM_000465.3:c.1977A>G	NP_000456.2:p.Arg659=	NC_000002.11:g.215595159T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1972C>T (p.Arg658Cys)	580	BARD1	Benign	3738888	RCV000205691; RCV000212141; RCV000130975;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215595164	215595164	NM_000465.3:c.1972C>T	NP_000456.2:p.Arg658Cys	NC_000002.11:g.215595164G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1967G>A (p.Gly656Asp)	580	BARD1	Uncertain significance	572554455	RCV000206859; RCV000131580;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215595169	215595169	NM_000465.3:c.1967G>A	NP_000456.2:p.Gly656Asp	NC_000002.11:g.215595169C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1935_1954dup20 (p.Glu652Valfs)	580	BARD1	Pathogenic;Uncertain significance	587780024	RCV000200198; RCV000115621;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215595182	215595201	NM_000465.3:c.1935_1954dup20	NP_000456.2:p.Glu652Valfs	NC_000002.11:g.215595182_215595201dup20	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1920A>G (p.Leu640=)	580	BARD1	Likely benign	780901872	RCV000197710; RCV000164962;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215595216	215595216	NM_000465.3:c.1920A>G	NP_000456.2:p.Leu640=	NC_000002.11:g.215595216T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1904-2A>T	580	BARD1	Likely pathogenic	864622239	RCV000206670;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215595234	215595234	NM_000465.3:c.1904-2A>T		NC_000002.11:g.215595234T>A	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1904-6T>C	580	BARD1	Likely benign	864622634	RCV000204479;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215595238	215595238	NM_000465.3:c.1904-6T>C		NC_000002.11:g.215595238A>G	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1868G>A (p.Gly623Glu)	580	BARD1	Uncertain significance	587782252	RCV000196594; RCV000212140; RCV000130961;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215609826	215609826	NM_000465.3:c.1868G>A	NP_000456.2:p.Gly623Glu	NC_000002.11:g.215609826C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1835A>T (p.Asp612Val)	580	BARD1	Uncertain significance	201140528	RCV000205160; RCV000212139; RCV000131406;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215609859	215609859	NM_000465.3:c.1835A>T	NP_000456.2:p.Asp612Val	NC_000002.11:g.215609859T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1811-7A>G	580	BARD1	Likely benign	864622487	RCV000204259;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215609890	215609890	NM_000465.3:c.1811-7A>G		NC_000002.11:g.215609890T>C	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1793C>A (p.Thr598Asn)	580	BARD1	Uncertain significance	376256852	RCV000206143; RCV000115619;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215610463	215610463	NM_000465.3:c.1793C>A	NP_000456.2:p.Thr598Asn	NC_000002.11:g.215610463G>A,NC_000002.11:g.215610463G>T	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000465.3(BARD1):c.1788A>G (p.Lys596=)	580	BARD1	Likely benign	777084777	RCV000195538; RCV000214851;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215610468	215610468	NM_000465.3:c.1788A>G	NP_000456.2:p.Lys596=	NC_000002.11:g.215610468T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.1757G>T (p.Ser586Ile)	580	BARD1	Uncertain significance	369756202	RCV000204626;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215610499	215610499	NM_000465.3:c.1757G>T	NP_000456.2:p.Ser586Ile	NC_000002.11:g.215610499C>A	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1751_1756dupTGCTCA (p.Leu585_Ser586insMetLeu)	580	BARD1	Uncertain significance	763622701	RCV000204706;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215610500	215610505	NM_000465.3:c.1751_1756dupTGCTCA	NP_000456.2:p.Leu585_Ser586insMetLeu	NC_000002.11:g.215610500_215610505dupTGAGCA	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1745A>G (p.Gln582Arg)	580	BARD1	Uncertain significance	864622329	RCV000204956; RCV000223482;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215610511	215610511	NM_000465.3:c.1745A>G	NP_000456.2:p.Gln582Arg	NC_000002.11:g.215610511T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.1738G>A (p.Glu580Lys)	580	BARD1	Benign	35306212	RCV000205575; RCV000212136; RCV000129032;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215610518	215610518	NM_000465.3:c.1738G>A	NP_000456.2:p.Glu580Lys	NC_000002.11:g.215610518C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1731G>A (p.Leu577=)	580	BARD1	Likely benign	863224364	RCV000199448; RCV000219167;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215610525	215610525	NM_000465.3:c.1731G>A	NP_000456.2:p.Leu577=	NC_000002.11:g.215610525C>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.1694G>A (p.Arg565His)	580	BARD1	Likely benign;Uncertain significance	146946984	RCV000197934; RCV000212137; RCV000115617;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215610562	215610562	NM_000465.3:c.1694G>A	NP_000456.2:p.Arg565His	NC_000002.11:g.215610562C>A,NC_000002.11:g.215610562C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1690C>T (p.Gln564Ter)	580	BARD1	Pathogenic	587780021	RCV000205536; RCV000212135; RCV000115616;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	2	215610566	215610566	NM_000465.3:c.1690C>T	NP_000456.2:p.Gln564Ter	NC_000002.11:g.215610566G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000465.3(BARD1):c.1678A>C (p.Met560Leu)	580	BARD1	Uncertain significance	587780020	RCV000205606; RCV000115615;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215610578	215610578	NM_000465.3:c.1678A>C	NP_000456.2:p.Met560Leu	NC_000002.11:g.215610578T>C,NC_000002.11:g.215610578T>G	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000465.3(BARD1):c.1678A>G (p.Met560Val)	580	BARD1	Uncertain significance	587780020	RCV000206080;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215610578	215610578	NM_000465.3:c.1678A>G	NP_000456.2:p.Met560Val	NC_000002.11:g.215610578T>C,NC_000002.11:g.215610578T>G	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser)	580	BARD1	Benign;risk factor	28997576	RCV000008511; RCV000206640; RCV000212134; RCV000123823;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN068448; MedGen:CN169374	2	215617178	215617178	NM_000465.3:c.1670G>C	NP_000456.2:p.Cys557Ser	NC_000002.11:g.215617178C>G	OMIM Allelic Variant:601593.0001	CN068448 Breast cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1652C>G (p.Ser551Ter)	580	BARD1	Pathogenic	587781707	RCV000206283; RCV000212133; RCV000129880;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	2	215617196	215617196	NM_000465.3:c.1652C>G	NP_000456.2:p.Ser551Ter	NC_000002.11:g.215617196G>A,NC_000002.11:g.215617196G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000465.3(BARD1):c.1652C>T (p.Ser551Leu)	580	BARD1	Uncertain significance	587781707	RCV000205925;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215617196	215617196	NM_000465.3:c.1652C>T	NP_000456.2:p.Ser551Leu	NC_000002.11:g.215617196G>A,NC_000002.11:g.215617196G>C	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1635A>G (p.Leu545=)	580	BARD1	Likely benign	786203364	RCV000195719; RCV000166641;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215617213	215617213	NM_000465.3:c.1635A>G	NP_000456.2:p.Leu545=	NC_000002.11:g.215617213T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1613G>A (p.Ser538Asn)	580	BARD1	Uncertain significance	370771157	RCV000206723; RCV000165715;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215617235	215617235	NM_000465.3:c.1613G>A	NP_000456.2:p.Ser538Asn	NC_000002.11:g.215617235C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1601C>T (p.Thr534Ile)	580	BARD1	Uncertain significance	374293292	RCV000206592; RCV000217210;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215617247	215617247	NM_000465.3:c.1601C>T	NP_000456.2:p.Thr534Ile	NC_000002.11:g.215617247G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.1585C>T (p.Arg529Trp)	580	BARD1	Uncertain significance	375515606	RCV000205438; RCV000164385;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215617263	215617263	NM_000465.3:c.1585C>T	NP_000456.2:p.Arg529Trp	NC_000002.11:g.215617263G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1568T>C (p.Val523Ala)	580	BARD1	Uncertain significance	587780017	RCV000200172; RCV000115612;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215632206	215632206	NM_000465.3:c.1568T>C	NP_000456.2:p.Val523Ala	NC_000002.11:g.215632206A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1533G>A (p.Lys511=)	580	BARD1	Likely benign	371785856	RCV000206795;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215632241	215632241	NM_000465.3:c.1533G>A	NP_000456.2:p.Lys511=	NC_000002.11:g.215632241C>T	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Glyfs)	580	BARD1	Benign	-1	RCV000198435;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215632255	215632256	NM_000465.3:c.1518_1519invTG	NP_000456.2:p.Val507Glyfs		-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1515G>T (p.Gly505=)	580	BARD1	Benign;Likely benign	139721211	RCV000203765; RCV000212131; RCV000159797;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215632259	215632259	NM_000465.3:c.1515G>T	NP_000456.2:p.Gly505=	NC_000002.11:g.215632259C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1513G>C (p.Gly505Arg)	580	BARD1	Uncertain significance	864622240	RCV000206066;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215632261	215632261	NM_000465.3:c.1513G>C	NP_000456.2:p.Gly505Arg	NC_000002.11:g.215632261C>G	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1498G>A (p.Asp500Asn)	580	BARD1	Uncertain significance	779468443	RCV000205471;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215632276	215632276	NM_000465.3:c.1498G>A	NP_000456.2:p.Asp500Asn	NC_000002.11:g.215632276C>T	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1475A>G (p.Tyr492Cys)	580	BARD1	Uncertain significance	587782000	RCV000203854; RCV000130414;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215632299	215632299	NM_000465.3:c.1475A>G	NP_000456.2:p.Tyr492Cys	NC_000002.11:g.215632299T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1448A>G (p.His483Arg)	580	BARD1	Uncertain significance	587781874	RCV000206542; RCV000130200;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215632326	215632326	NM_000465.3:c.1448A>G	NP_000456.2:p.His483Arg	NC_000002.11:g.215632326T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1409A>G (p.Asn470Ser)	580	BARD1	Likely benign;Uncertain significance	587781976	RCV000197585; RCV000212130; RCV000130369;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215632365	215632365	NM_000465.3:c.1409A>G	NP_000456.2:p.Asn470Ser	NC_000002.11:g.215632365T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1376A>G (p.His459Arg)	580	BARD1	Uncertain significance	587781621	RCV000204901; RCV000129711;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215633975	215633975	NM_000465.3:c.1376A>G	NP_000456.2:p.His459Arg	NC_000002.11:g.215633975T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1360C>T (p.Pro454Ser)	580	BARD1	Uncertain significance	730881408	RCV000196390;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215633991	215633991	NM_000465.3:c.1360C>T	NP_000456.2:p.Pro454Ser	NC_000002.11:g.215633991G>A,NC_000002.11:g.215633991G>C	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1347A>G (p.Gln449=)	580	BARD1	Benign;Likely benign;Uncertain significance	373257776	RCV000199945; RCV000212128; RCV000159796;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215634004	215634004	NM_000465.3:c.1347A>G	NP_000456.2:p.Gln449=	NC_000002.11:g.215634004T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.1319A>G (p.Asp440Gly)	580	BARD1	Uncertain significance	753446928	RCV000203708;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215634032	215634032	NM_000465.3:c.1319A>G	NP_000456.2:p.Asp440Gly	NC_000002.11:g.215634032T>C	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1240A>T (p.Met414Leu)	580	BARD1	Uncertain significance	759601398	RCV000206347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645358	215645358	NM_000465.3:c.1240A>T	NP_000456.2:p.Met414Leu	NC_000002.11:g.215645358T>A	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1212C>G (p.Tyr404Ter)	580	BARD1	Pathogenic	587782681	RCV000195626; RCV000132107;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645386	215645386	NM_000465.3:c.1212C>G	NP_000456.2:p.Tyr404Ter	NC_000002.11:g.215645386G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1180A>G (p.Thr394Ala)	580	BARD1	Uncertain significance	587782548	RCV000203806; RCV000131761;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645418	215645418	NM_000465.3:c.1180A>G	NP_000456.2:p.Thr394Ala	NC_000002.11:g.215645418T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1153G>T (p.Asp385Tyr)	580	BARD1	Uncertain significance	587782436	RCV000195501; RCV000131498;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645445	215645445	NM_000465.3:c.1153G>T	NP_000456.2:p.Asp385Tyr	NC_000002.11:g.215645445C>A,NC_000002.11:g.215645445C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1152C>T (p.Ser384=)	580	BARD1	Likely benign	368291318	RCV000206637; RCV000164186;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645446	215645446	NM_000465.3:c.1152C>T	NP_000456.2:p.Ser384=	NC_000002.11:g.215645446G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1136A>C (p.Lys379Thr)	580	BARD1	Uncertain significance	750827325	RCV000205668;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645462	215645462	NM_000465.3:c.1136A>C	NP_000456.2:p.Lys379Thr	NC_000002.11:g.215645462T>C,NC_000002.11:g.215645462T>G	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1127C>T (p.Ser376Leu)	580	BARD1	Uncertain significance	587782333	RCV000199235; RCV000131256;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645471	215645471	NM_000465.3:c.1127C>T	NP_000456.2:p.Ser376Leu	NC_000002.11:g.215645471G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1075_1095del21 (p.Leu359_Pro365del)	580	BARD1	Benign	28997575	RCV000197321; RCV000128959;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645503	215645523	NM_000465.3:c.1075_1095del21	NP_000456.2:p.Leu359_Pro365del	NC_000002.11:g.215645503_215645523del21	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1077G>T (p.Leu359Phe)	580	BARD1	Uncertain significance	864622283	RCV000204604;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645521	215645521	NM_000465.3:c.1077G>T	NP_000456.2:p.Leu359Phe	NC_000002.11:g.215645521C>A	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1060T>A (p.Ser354Thr)	580	BARD1	Uncertain significance	863224670	RCV000198033; RCV000214176;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215645538	215645538	NM_000465.3:c.1060T>A	NP_000456.2:p.Ser354Thr	NC_000002.11:g.215645538A>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.1053G>T (p.Thr351=)	580	BARD1	Uncertain significance	2070096	RCV000195470;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645545	215645545	NM_000465.3:c.1053G>T	NP_000456.2:p.Thr351=	NC_000002.11:g.215645545C>A,NC_000002.11:g.215645545C>G	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.1028C>T (p.Thr343Ile)	580	BARD1	Uncertain significance	201032007	RCV000206115; RCV000115608;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645570	215645570	NM_000465.3:c.1028C>T	NP_000456.2:p.Thr343Ile	NC_000002.11:g.215645570G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.1014C>G (p.Thr338=)	580	BARD1	Likely benign	864622443	RCV000206684;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645584	215645584	NM_000465.3:c.1014C>G	NP_000456.2:p.Thr338=	NC_000002.11:g.215645584G>C	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.927A>G (p.Thr309=)	580	BARD1	Likely benign	863224365	RCV000200392;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645671	215645671	NM_000465.3:c.927A>G	NP_000456.2:p.Thr309=	NC_000002.11:g.215645671T>C	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.907G>C (p.Val303Leu)	580	BARD1	Uncertain significance	375048835	RCV000204605;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645691	215645691	NM_000465.3:c.907G>C	NP_000456.2:p.Val303Leu		-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.897T>C (p.Thr299=)	580	BARD1	Likely benign	559051241	RCV000198155;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645701	215645701	NM_000465.3:c.897T>C	NP_000456.2:p.Thr299=	NC_000002.11:g.215645701A>G	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.882G>A (p.Arg294=)	580	BARD1	Likely benign	778855056	RCV000204253; RCV000163197;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645716	215645716	NM_000465.3:c.882G>A	NP_000456.2:p.Arg294=	NC_000002.11:g.215645716C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.842C>T (p.Pro281Leu)	580	BARD1	Uncertain significance	367890377	RCV000204860; RCV000165427;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645756	215645756	NM_000465.3:c.842C>T	NP_000456.2:p.Pro281Leu	NC_000002.11:g.215645756G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.835T>C (p.Ser279Pro)	580	BARD1	Uncertain significance	587781456	RCV000203936; RCV000129387;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645763	215645763	NM_000465.3:c.835T>C	NP_000456.2:p.Ser279Pro	NC_000002.11:g.215645763A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.776A>G (p.Asp259Gly)	580	BARD1	Uncertain significance	587780036	RCV000197946; RCV000212124; RCV000115643;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215645822	215645822	NM_000465.3:c.776A>G	NP_000456.2:p.Asp259Gly	NC_000002.11:g.215645822T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.773T>C (p.Ile258Thr)	580	BARD1	Benign;Likely benign	146223579	RCV000203950; RCV000129102;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645825	215645825	NM_000465.3:c.773T>C	NP_000456.2:p.Ile258Thr	NC_000002.11:g.215645825A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.738A>G (p.Pro246=)	580	BARD1	Benign;Likely benign	587780859	RCV000204042; RCV000212123; RCV000123822;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215645860	215645860	NM_000465.3:c.738A>G	NP_000456.2:p.Pro246=	NC_000002.11:g.215645860T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.722C>G (p.Ser241Cys)	580	BARD1	Benign	3738885	RCV000206369; RCV000212122; RCV000131461;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215645876	215645876	NM_000465.3:c.722C>G	NP_000456.2:p.Ser241Cys	NC_000002.11:g.215645876G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.716T>A (p.Leu239Gln)	580	BARD1	Uncertain significance	200359745	RCV000206495; RCV000212121; RCV000115642;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215645882	215645882	NM_000465.3:c.716T>A	NP_000456.2:p.Leu239Gln	NC_000002.11:g.215645882A>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.709C>G (p.Gln237Glu)	580	BARD1	Uncertain significance	587780035	RCV000205761; RCV000212120; RCV000115641;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215645889	215645889	NM_000465.3:c.709C>G	NP_000456.2:p.Gln237Glu	NC_000002.11:g.215645889G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.684A>G (p.Glu228=)	580	BARD1	Likely benign;Uncertain significance	780627045	RCV000206652; RCV000213234;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215645914	215645914	NM_000465.3:c.684A>G	NP_000456.2:p.Glu228=	NC_000002.11:g.215645914T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.669A>G (p.Glu223=)	580	BARD1	Likely benign	786201963	RCV000196653; RCV000164519;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645929	215645929	NM_000465.3:c.669A>G	NP_000456.2:p.Glu223=	NC_000002.11:g.215645929T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.668A>G (p.Glu223Gly)	580	BARD1	Uncertain significance	145009419	RCV000198939; RCV000212119; RCV000115639;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215645930	215645930	NM_000465.3:c.668A>G	NP_000456.2:p.Glu223Gly	NC_000002.11:g.215645930T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.659T>C (p.Leu220Ser)	580	BARD1	Uncertain significance	138593305	RCV000205881; RCV000131224;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645939	215645939	NM_000465.3:c.659T>C	NP_000456.2:p.Leu220Ser	NC_000002.11:g.215645939A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.643A>T (p.Asn215Tyr)	580	BARD1	Uncertain significance	864622353	RCV000206509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645955	215645955	NM_000465.3:c.643A>T	NP_000456.2:p.Asn215Tyr	NC_000002.11:g.215645955T>A	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.632T>C (p.Leu211Ser)	580	BARD1	Uncertain significance	762171436	RCV000197735; RCV000166625;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645966	215645966	NM_000465.3:c.632T>C	NP_000456.2:p.Leu211Ser	NC_000002.11:g.215645966A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.627_628delAA (p.Lys209Asnfs)	580	BARD1	Pathogenic	864622223	RCV000203908;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215645970	215645971	NM_000465.3:c.627_628delAA	NP_000456.2:p.Lys209Asnfs	NC_000002.11:g.215645970_215645971delTT	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.620A>G (p.Lys207Arg)	580	BARD1	Benign;Likely benign	34969857	RCV000199443; RCV000200969; RCV000115637;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215645978	215645978	NM_000465.3:c.620A>G	NP_000456.2:p.Lys207Arg	NC_000002.11:g.215645978T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.609A>G (p.Gly203=)	580	BARD1	Likely benign	28997574	RCV000205896; RCV000223227;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215645989	215645989	NM_000465.3:c.609A>G	NP_000456.2:p.Gly203=	NC_000002.11:g.215645989T>C,NC_000002.11:g.215645989T>G	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.600A>G (p.Ala200=)	580	BARD1	Likely benign	864622418	RCV000204357; RCV000214957;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215645998	215645998	NM_000465.3:c.600A>G	NP_000456.2:p.Ala200=	NC_000002.11:g.215645998T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.568G>A (p.Asp190Asn)	580	BARD1	Uncertain significance	369561166	RCV000206249; RCV000212117; RCV000131169;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215646030	215646030	NM_000465.3:c.568G>A	NP_000456.2:p.Asp190Asn	NC_000002.11:g.215646030C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.566C>T (p.Ala189Val)	580	BARD1	Uncertain significance	864622686	RCV000203931; RCV000216695;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215646032	215646032	NM_000465.3:c.566C>T	NP_000456.2:p.Ala189Val		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.531A>G (p.Gln177=)	580	BARD1	Likely benign	774050888	RCV000199880; RCV000162627;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215646067	215646067	NM_000465.3:c.531A>G	NP_000456.2:p.Gln177=	NC_000002.11:g.215646067T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.465A>G (p.Arg155=)	580	BARD1	Likely benign;Uncertain significance	730881413	RCV000199429; RCV000212115; RCV000159807;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215646133	215646133	NM_000465.3:c.465A>G	NP_000456.2:p.Arg155=	NC_000002.11:g.215646133T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.449G>A (p.Arg150Gln)	580	BARD1	Uncertain significance	730881412	RCV000196853; RCV000212114; RCV000159806;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215646149	215646149	NM_000465.3:c.449G>A	NP_000456.2:p.Arg150Gln	NC_000002.11:g.215646149C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.365-7C>T	580	BARD1	Likely benign	745929983	RCV000206530;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215646240	215646240	NM_000465.3:c.365-7C>T		NC_000002.11:g.215646240G>A	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.365-8del	580	BARD1	Benign	776103948	RCV000197210;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215646241	215646241	NM_000465.3:c.365-8del		NC_000002.11:g.215646241delA	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.348T>C (p.His116=)	580	BARD1	Benign;Likely benign	139934362	RCV000205520; RCV000212112; RCV000159793;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215657037	215657037	NM_000465.3:c.348T>C	NP_000456.2:p.His116=	NC_000002.11:g.215657037A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.346C>T (p.His116Tyr)	580	BARD1	Likely benign;Uncertain significance	144856889	RCV000205245; RCV000212111; RCV000131018;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215657039	215657039	NM_000465.3:c.346C>T	NP_000456.2:p.His116Tyr	NC_000002.11:g.215657039G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.335G>C (p.Arg112Pro)	580	BARD1	Uncertain significance	587781591	RCV000206354;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215657050	215657050	NM_000465.3:c.335G>C	NP_000456.2:p.Arg112Pro		-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.308G>A (p.Ser103Asn)	580	BARD1	Uncertain significance	145629242	RCV000200605; RCV000212110; RCV000131209;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215657077	215657077	NM_000465.3:c.308G>A	NP_000456.2:p.Ser103Asn	NC_000002.11:g.215657077C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.293A>G (p.Asn98Ser)	580	BARD1	Uncertain significance	763707275	RCV000206838;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215657092	215657092	NM_000465.3:c.293A>G	NP_000456.2:p.Asn98Ser	NC_000002.11:g.215657092T>C	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.279A>G (p.Gln93=)	580	BARD1	Likely benign;Uncertain significance	370000575	RCV000206287; RCV000162525;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215657106	215657106	NM_000465.3:c.279A>G	NP_000456.2:p.Gln93=	NC_000002.11:g.215657106T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.274A>T (p.Ile92Leu)	580	BARD1	Uncertain significance	750878896	RCV000205400; RCV000214932;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215657111	215657111	NM_000465.3:c.274A>T	NP_000456.2:p.Ile92Leu		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.253G>T (p.Val85Leu)	580	BARD1	Benign;Uncertain significance	370359540	RCV000198968; RCV000131579;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215657132	215657132	NM_000465.3:c.253G>T	NP_000456.2:p.Val85Leu	NC_000002.11:g.215657132C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.188T>C (p.Leu63Ser)	580	BARD1	Uncertain significance	748828467	RCV000198303; RCV000216992;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215661812	215661812	NM_000465.3:c.188T>C	NP_000456.2:p.Leu63Ser	NC_000002.11:g.215661812A>G	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.159T>C (p.Cys53=)	580	BARD1	Likely benign	201708813	RCV000198977; RCV000165804;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215661841	215661841	NM_000465.3:c.159T>C	NP_000456.2:p.Cys53=	NC_000002.11:g.215661841A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.159-7C>T	580	BARD1	Likely benign	533403598	RCV000206858;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215661848	215661848	NM_000465.3:c.159-7C>T		NC_000002.11:g.215661848G>A	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.144G>A (p.Leu48=)	580	BARD1	Likely benign	151168457	RCV000204068; RCV000163861;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674150	215674150	NM_000465.3:c.144G>A	NP_000456.2:p.Leu48=	NC_000002.11:g.215674150C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.127C>G (p.Arg43Gly)	580	BARD1	Uncertain significance	752871324	RCV000205523;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674167	215674167	NM_000465.3:c.127C>G	NP_000456.2:p.Arg43Gly	NC_000002.11:g.215674167G>C,NC_000002.11:g.215674167G>T	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.127C>A (p.Arg43Ser)	580	BARD1	Uncertain significance	752871324	RCV000205388; RCV000215506;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215674167	215674167	NM_000465.3:c.127C>A	NP_000456.2:p.Arg43Ser	NC_000002.11:g.215674167G>C,NC_000002.11:g.215674167G>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.119C>T (p.Ala40Val)	580	BARD1	Uncertain significance	71579841	RCV000198072; RCV000132381;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674175	215674175	NM_000465.3:c.119C>T	NP_000456.2:p.Ala40Val	NC_000002.11:g.215674175G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.107A>G (p.His36Arg)	580	BARD1	Uncertain significance	864622635	RCV000204988;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674187	215674187	NM_000465.3:c.107A>G	NP_000456.2:p.His36Arg		-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.90T>A (p.Gly30=)	580	BARD1	Benign;Likely benign	150354152	RCV000205778; RCV000212109; RCV000159799;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215674204	215674204	NM_000465.3:c.90T>A	NP_000456.2:p.Gly30=	NC_000002.11:g.215674204A>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.79G>C (p.Glu27Gln)	580	BARD1	Uncertain significance	587780037	RCV000204805; RCV000212108; RCV000115644;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215674215	215674215	NM_000465.3:c.79G>C	NP_000456.2:p.Glu27Gln	NC_000002.11:g.215674215C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.73G>C (p.Ala25Pro)	580	BARD1	Uncertain significance	751646468	RCV000203712; RCV000164946;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674221	215674221	NM_000465.3:c.73G>C	NP_000456.2:p.Ala25Pro	NC_000002.11:g.215674221C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.71C>G (p.Pro24Arg)	580	BARD1	Uncertain significance	863224674	RCV000196061; RCV000219522;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215674223	215674223	NM_000465.3:c.71C>G	NP_000456.2:p.Pro24Arg	NC_000002.11:g.215674223G>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.61C>G (p.Arg21Gly)	580	BARD1	Uncertain significance	864622206	RCV000206223; RCV000222574;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	2	215674233	215674233	NM_000465.3:c.61C>G	NP_000456.2:p.Arg21Gly	NC_000002.11:g.215674233G>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000465.3(BARD1):c.57G>A (p.Glu19=)	580	BARD1	Benign;Likely benign	730881406	RCV000204545; RCV000212105; RCV000159798;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	2	215674237	215674237	NM_000465.3:c.57G>A	NP_000456.2:p.Glu19=	NC_000002.11:g.215674237C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000465.3(BARD1):c.51G>C (p.Gly17=)	580	BARD1	Likely benign	864622419	RCV000204637;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674243	215674243	NM_000465.3:c.51G>C	NP_000456.2:p.Gly17=	NC_000002.11:g.215674243C>G	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.49G>A (p.Gly17Arg)	580	BARD1	Uncertain significance	746495820	RCV000204675; RCV000165533;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674245	215674245	NM_000465.3:c.49G>A	NP_000456.2:p.Gly17Arg	NC_000002.11:g.215674245C>G,NC_000002.11:g.215674245C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.49G>C (p.Gly17Arg)	580	BARD1	Uncertain significance	746495820	RCV000195854;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674245	215674245	NM_000465.3:c.49G>C	NP_000456.2:p.Gly17Arg	NC_000002.11:g.215674245C>G,NC_000002.11:g.215674245C>T	-	C0346153 114480 Familial cancer of breast
NM_000465.3(BARD1):c.33G>T (p.Gln11His)	580	BARD1	Benign;Likely benign;Uncertain significance	143914387	RCV000195673; RCV000115633;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674261	215674261	NM_000465.3:c.33G>T	NP_000456.2:p.Gln11His	NC_000002.11:g.215674261C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000465.3(BARD1):c.17A>G (p.Gln6Arg)	580	BARD1	Uncertain significance	864622229	RCV000205048;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	2	215674277	215674277	NM_000465.3:c.17A>G	NP_000456.2:p.Gln6Arg	NC_000002.11:g.215674277T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5566C>T (p.Pro1856Ser)	672	BRCA1	Likely benign;Uncertain significance	80357274	RCV000049054; RCV000077629; RCV000131973;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197721	41197721	NM_007294.3:c.5566C>T	NP_009225.1:p.Pro1856Ser	NC_000017.10:g.41197721G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5503_5564del62 (p.Arg1835Thrfs)	672	BRCA1	Pathogenic	80359883	RCV000049021; RCV000112684;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197723	41197784	NM_007294.3:c.5503_5564del62	NP_009225.1:p.Arg1835Thrfs	NC_000017.10:g.41197723_41197784del62	Breast Cancer Information Core (BRCA1):5622&base_change=del 62	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5561T>C (p.Leu1854Pro)	672	BRCA1	Uncertain significance	80356996	RCV000049053; RCV000083223;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197726	41197726	NM_007294.3:c.5561T>C	NP_009225.1:p.Leu1854Pro	NC_000017.10:g.41197726A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5559C>A (p.Tyr1853Ter)	672	BRCA1	Pathogenic	80357336	RCV000049051; RCV000112704;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197728	41197728	NM_007294.3:c.5559C>A	NP_009225.1:p.Tyr1853Ter	NC_000017.10:g.41197728G>C,NC_000017.10:g.41197728G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5559C>G (p.Tyr1853Ter)	672	BRCA1	not provided	80357336	RCV000049052;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197728	41197728	NM_007294.3:c.5559C>G	NP_009225.1:p.Tyr1853Ter	NC_000017.10:g.41197728G>C,NC_000017.10:g.41197728G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5558A>G (p.Tyr1853Cys)	672	BRCA1	Uncertain significance	80357258	RCV000049049; RCV000112703;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197729	41197729	NM_007294.3:c.5558A>G	NP_009225.1:p.Tyr1853Cys	NC_000017.10:g.41197729T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5556C>G (p.Thr1852=)	672	BRCA1	Uncertain significance	80356841	RCV000049048; RCV000112702;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197731	41197731	NM_007294.3:c.5556C>G	NP_009225.1:p.Thr1852=	NC_000017.10:g.41197731G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5553C>A (p.Asp1851Glu)	672	BRCA1	Uncertain significance	80357326	RCV000049046; RCV000112701;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197734	41197734	NM_007294.3:c.5553C>A	NP_009225.1:p.Asp1851Glu	NC_000017.10:g.41197734G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5553dupC (p.Thr1852Hisfs)	672	BRCA1	not provided	397509297	RCV000049047;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197734	41197734	NM_007294.3:c.5553dupC	NP_009225.1:p.Thr1852Hisfs	NC_000017.10:g.41197734dupG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5548delC (p.Leu1850Trpfs)	672	BRCA1	not provided	397509296	RCV000049045;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197739	41197739	NM_007294.3:c.5548delC	NP_009225.1:p.Leu1850Trpfs	NC_000017.10:g.41197739delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5541C>A (p.Cys1847Ter)	672	BRCA1	Pathogenic	397509295	RCV000049044; RCV000083222;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197746	41197746	NM_007294.3:c.5541C>A	NP_009225.1:p.Cys1847Ter	NC_000017.10:g.41197746G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5536C>T (p.Gln1846Ter)	672	BRCA1	Likely pathogenic;Pathogenic	80356873	RCV000049042; RCV000112699;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197751	41197751	NM_007294.3:c.5536C>T	NP_009225.1:p.Gln1846Ter	NC_000017.10:g.41197751G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5535C>A (p.Tyr1845Ter)	672	BRCA1	Pathogenic	80356977	RCV000049041; RCV000112698;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197752	41197752	NM_007294.3:c.5535C>A	NP_009225.1:p.Tyr1845Ter	NC_000017.10:g.41197752G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5532_5533insG (p.Tyr1845Valfs)	672	BRCA1	not provided	397509293	RCV000049039;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197754	41197755	NM_007294.3:c.5532_5533insG	NP_009225.1:p.Tyr1845Valfs	NC_000017.10:g.41197754_41197755insC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5533dupT (p.Tyr1845Leufs)	672	BRCA1	not provided	397509294	RCV000049040;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197754	41197754	NM_007294.3:c.5533dupT	NP_009225.1:p.Tyr1845Leufs	NC_000017.10:g.41197754dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5532C>T (p.Leu1844=)	672	BRCA1	Uncertain significance	80356829	RCV000049038; RCV000112696;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197755	41197755	NM_007294.3:c.5532C>T	NP_009225.1:p.Leu1844=	NC_000017.10:g.41197755G>A	Breast Cancer Information Core (BRCA1):5651&base_change=C to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5531T>G (p.Leu1844Arg)	672	BRCA1	Likely benign;Uncertain significance	80357323	RCV000049037; RCV000083221; RCV000176411; RCV000131565;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41197756	41197756	NM_007294.3:c.5531T>G	NP_009225.1:p.Leu1844Arg	NC_000017.10:g.41197756A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.5527G>C (p.Ala1843Pro)	672	BRCA1	Uncertain significance	80357019	RCV000049036; RCV000112695;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197760	41197760	NM_007294.3:c.5527G>C	NP_009225.1:p.Ala1843Pro	NC_000017.10:g.41197760C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5522G>A (p.Ser1841Asn)	672	BRCA1	Uncertain significance	80357368	RCV000049035; RCV000112694;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197765	41197765	NM_007294.3:c.5522G>A	NP_009225.1:p.Ser1841Asn	NC_000017.10:g.41197765C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg)	672	BRCA1	Uncertain significance	80357299	RCV000049033; RCV000031262;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197766	41197766	NM_007294.3:c.5521A>C	NP_009225.1:p.Ser1841Arg	NC_000017.10:g.41197766T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5521delA (p.Ser1841Valfs)	672	BRCA1	Pathogenic	80357721	RCV000049034; RCV000112693;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197766	41197766	NM_007294.3:c.5521delA	NP_009225.1:p.Ser1841Valfs	NC_000017.10:g.41197766delT	Breast Cancer Information Core (BRCA1):5640&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5513T>A (p.Val1838Glu)	672	BRCA1	Pathogenic	80357107	RCV000049032; RCV000077628;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197774	41197774	NM_007294.3:c.5513T>A	NP_009225.1:p.Val1838Glu	NC_000017.10:g.41197774A>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00039	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5512delG (p.Val1838Cysfs)	672	BRCA1	Pathogenic	80357839	RCV000049031; RCV000112690;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197775	41197775	NM_007294.3:c.5512delG	NP_009225.1:p.Val1838Cysfs	NC_000017.10:g.41197775delC	Breast Cancer Information Core (BRCA1):5629&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5511G>T (p.Trp1837Cys)	672	BRCA1	Uncertain significance	80356914	RCV000049030; RCV000031261;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197776	41197776	NM_007294.3:c.5511G>T	NP_009225.1:p.Trp1837Cys	NC_000017.10:g.41197776C>A,NC_000017.10:g.41197776C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5511G>A (p.Trp1837Ter)	672	BRCA1	Pathogenic	80356914	RCV000049029; RCV000112692;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197776	41197776	NM_007294.3:c.5511G>A	NP_009225.1:p.Trp1837Ter	NC_000017.10:g.41197776C>A,NC_000017.10:g.41197776C>T	Breast Cancer Information Core (BRCA1):5630&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5510G>A (p.Trp1837Ter)	672	BRCA1	Pathogenic	80357307	RCV000049028; RCV000112689; RCV000218206;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41197777	41197777	NM_007294.3:c.5510G>A	NP_009225.1:p.Trp1837Ter	NC_000017.10:g.41197777C>T	Breast Cancer Information Core (BRCA1):5629&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5509T>C (p.Trp1837Arg)	672	BRCA1	Likely pathogenic;Uncertain significance	80356959	RCV000049026; RCV000031260; RCV000129546;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197778	41197778	NM_007294.3:c.5509T>C	NP_009225.1:p.Trp1837Arg	NC_000017.10:g.41197778A>C,NC_000017.10:g.41197778A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly)	672	BRCA1	Uncertain significance	80356959	RCV000049027; RCV000112688; RCV000130013;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197778	41197778	NM_007294.3:c.5509T>G	NP_009225.1:p.Trp1837Gly	NC_000017.10:g.41197778A>C,NC_000017.10:g.41197778A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5496_5506delGGTGACCCGAGinsA (p.Val1833Serfs)	672	BRCA1	Pathogenic	273902775	RCV000049016; RCV000112681;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197781	41197791	NM_007294.3:c.5496_5506delGGTGACCCGAGinsA	NP_009225.1:p.Val1833Serfs	NC_000017.10:g.41197781_41197791delCTCGGGTCACCinsT	Breast Cancer Information Core (BRCA1):5615&base_change=del GGTGACCCGAG ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5497_5506delGTGACCCGAG (p.Val1833Serfs)	672	BRCA1	not provided	397509290	RCV000049018;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197781	41197790	NM_007294.3:c.5497_5506delGTGACCCGAG	NP_009225.1:p.Val1833Serfs	NC_000017.10:g.41197781_41197790delCTCGGGTCAC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5506G>A (p.Glu1836Lys)	672	BRCA1	Uncertain significance	80356942	RCV000049024; RCV000112686; RCV000219922; RCV000195397; RCV000168525;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	41197781	41197781	NM_007294.3:c.5506G>A	NP_009225.1:p.Glu1836Lys	NC_000017.10:g.41197781C>A,NC_000017.10:g.41197781C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5506G>T (p.Glu1836Ter)	672	BRCA1	Pathogenic	80356942	RCV000049025; RCV000112687;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197781	41197781	NM_007294.3:c.5506G>T	NP_009225.1:p.Glu1836Ter	NC_000017.10:g.41197781C>A,NC_000017.10:g.41197781C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5504G>A (p.Arg1835Gln)	672	BRCA1	Uncertain significance	273902776	RCV000049023; RCV000112685; RCV000120265; RCV000130437;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41197783	41197783	NM_007294.3:c.5504G>A	NP_009225.1:p.Arg1835Gln	NC_000017.10:g.41197783C>G,NC_000017.10:g.41197783C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter)	672	BRCA1	Likely pathogenic;Pathogenic	41293465	RCV000049020; RCV000077627; RCV000203652; RCV000131862;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41197784	41197784	NM_007294.3:c.5503C>T	NP_009225.1:p.Arg1835Ter	NC_000017.10:g.41197784G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5503delC (p.Arg1835Glufs)	672	BRCA1	not provided	397509291	RCV000049022;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197784	41197784	NM_007294.3:c.5503delC	NP_009225.1:p.Arg1835Glufs	NC_000017.10:g.41197784delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met)	672	BRCA1	Likely pathogenic;Pathogenic;Uncertain significance	80357268	RCV000049017; RCV000077626; RCV000132307;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197790	41197790	NM_007294.3:c.5497G>A	NP_009225.1:p.Val1833Met	NC_000017.10:g.41197790C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5492delC (p.Pro1831Leufs)	672	BRCA1	Pathogenic	80357582	RCV000049015; RCV000112680;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197795	41197795	NM_007294.3:c.5492delC	NP_009225.1:p.Pro1831Leufs	NC_000017.10:g.41197795delG	Breast Cancer Information Core (BRCA1):5611&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5488G>A (p.Ala1830Thr)	672	BRCA1	Uncertain significance	80357393	RCV000049013; RCV000112673;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197799	41197799	NM_007294.3:c.5488G>A	NP_009225.1:p.Ala1830Thr	NC_000017.10:g.41197799C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5483delG (p.Cys1828Leufs)	672	BRCA1	not provided	397509288	RCV000049012;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197804	41197804	NM_007294.3:c.5483delG	NP_009225.1:p.Cys1828Leufs	NC_000017.10:g.41197804delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5474_5481delGGCAGATG (p.Gly1825Valfs)	672	BRCA1	Pathogenic	730881441	RCV000159845; RCV000163754;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197806	41197813	NM_007294.3:c.5474_5481delGGCAGATG	NP_009225.1:p.Gly1825Valfs	NC_000017.10:g.41197806_41197813delCATCTGCC	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5478G>T (p.Gln1826His)	672	BRCA1	Uncertain significance	80357332	RCV000049011; RCV000112669;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197809	41197809	NM_007294.3:c.5478G>T	NP_009225.1:p.Gln1826His	NC_000017.10:g.41197809C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5470_5477delATTGGGCA (p.Ile1824Aspfs)	672	BRCA1	Pathogenic	80357973	RCV000049010; RCV000112668; RCV000131859;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41197810	41197817	NM_007294.3:c.5470_5477delATTGGGCA	NP_009225.1:p.Ile1824Aspfs	NC_000017.10:g.41197810_41197817delTGCCCAAT	Breast Cancer Information Core (BRCA1):5589&base_change=del ATTGGGCA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5468-5T>G	672	BRCA1	Uncertain significance	730881498	RCV000160010;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41197824	41197824	NM_007294.3:c.5468-5T>G		NC_000017.10:g.41197824A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5468-10C>A	672	BRCA1	Benign	8176316	RCV000049007; RCV000112663; RCV000167846; RCV000168524;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41197829	41197829	NM_007294.3:c.5468-10C>A		NC_000017.10:g.41197829G>T	Breast Cancer Information Core (BRCA1):5587-10&base_change=C to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.5467+8G>T	672	BRCA1	not provided	80358062	RCV000049005;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41199652	41199652	NM_007294.3:c.5467+8G>T		NC_000017.10:g.41199652C>A,NC_000017.10:g.41199652C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5467+5G>C	672	BRCA1	not provided	397509287	RCV000049004;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41199655	41199655	NM_007294.3:c.5467+5G>C		NC_000017.10:g.41199655C>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5467+1G>A	672	BRCA1	Likely pathogenic;Pathogenic	80358145	RCV000049003; RCV000031254; RCV000162888;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199659	41199659	NM_007294.3:c.5467+1G>A		NC_000017.10:g.41199659C>T	Breast Cancer Information Core (BRCA1):5586+1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5467G>A (p.Ala1823Thr)	672	BRCA1	not provided	80357212	RCV000049006; RCV000112662;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199660	41199660	NM_007294.3:c.5467G>A	NP_009225.1:p.Ala1823Thr	NC_000017.10:g.41199660C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5453A>G (p.Asp1818Gly)	672	BRCA1	Likely pathogenic;Pathogenic;Uncertain significance	80357477	RCV000049001; RCV000031253; RCV000215390;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41199674	41199674	NM_007294.3:c.5453A>G	NP_009225.1:p.Asp1818Gly	NC_000017.10:g.41199674T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5450_5451delAG (p.Glu1817Glyfs)	672	BRCA1	not provided	397509286	RCV000049000;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41199676	41199677	NM_007294.3:c.5450_5451delAG	NP_009225.1:p.Glu1817Glyfs	NC_000017.10:g.41199676_41199677delCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5449G>T (p.Glu1817Ter)	672	BRCA1	Pathogenic	80356868	RCV000048999; RCV000112657;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199678	41199678	NM_007294.3:c.5449G>T	NP_009225.1:p.Glu1817Ter	NC_000017.10:g.41199678C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5448A>G (p.Thr1816=)	672	BRCA1	not provided	397509285	RCV000048998;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41199679	41199679	NM_007294.3:c.5448A>G	NP_009225.1:p.Thr1816=	NC_000017.10:g.41199679T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5445G>A (p.Trp1815Ter)	672	BRCA1	Pathogenic	397509284	RCV000048997; RCV000077624; RCV000166210;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199682	41199682	NM_007294.3:c.5445G>A	NP_009225.1:p.Trp1815Ter	NC_000017.10:g.41199682C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5440delG (p.Ala1814Profs)	672	BRCA1	Pathogenic	80357946	RCV000048995; RCV000112655;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199687	41199687	NM_007294.3:c.5440delG	NP_009225.1:p.Ala1814Profs	NC_000017.10:g.41199687delC	Breast Cancer Information Core (BRCA1):5559&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5434C>G (p.Pro1812Ala)	672	BRCA1	Uncertain significance	1800751	RCV000048994; RCV000031251;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199693	41199693	NM_007294.3:c.5434C>G	NP_009225.1:p.Pro1812Ala	NC_000017.10:g.41199693G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5431C>T (p.Gln1811Ter)	672	BRCA1	not provided	397509283	RCV000048992;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41199696	41199696	NM_007294.3:c.5431C>T	NP_009225.1:p.Gln1811Ter	NC_000017.10:g.41199696G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5425_5430delGTTGTG (p.Val1809_Val1810del)	672	BRCA1	Uncertain significance	80358348	RCV000048989; RCV000112652;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199697	41199702	NM_007294.3:c.5425_5430delGTTGTG	NP_009225.1:p.Val1809_Val1810del	NC_000017.10:g.41199697_41199702delCACAAC	Breast Cancer Information Core (BRCA1):5544&base_change=del GTTGTG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5429T>G (p.Val1810Gly)	672	BRCA1	Uncertain significance	80357451	RCV000048991; RCV000112654;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199698	41199698	NM_007294.3:c.5429T>G	NP_009225.1:p.Val1810Gly	NC_000017.10:g.41199698A>C,NC_000017.10:g.41199698A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5426T>C (p.Val1809Ala)	672	BRCA1	Uncertain significance	80357216	RCV000048990; RCV000112653;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199701	41199701	NM_007294.3:c.5426T>C	NP_009225.1:p.Val1809Ala	NC_000017.10:g.41199701A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5425G>T (p.Val1809Phe)	672	BRCA1	Uncertain significance	28897698	RCV000048988; RCV000112651;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199702	41199702	NM_007294.3:c.5425G>T	NP_009225.1:p.Val1809Phe	NC_000017.10:g.41199702C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5423T>C (p.Val1808Ala)	672	BRCA1	Uncertain significance	80357358	RCV000048987; RCV000112650;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199704	41199704	NM_007294.3:c.5423T>C	NP_009225.1:p.Val1808Ala	NC_000017.10:g.41199704A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5419delA (p.Ile1807Leufs)	672	BRCA1	Pathogenic	80357934	RCV000048986; RCV000112649;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199708	41199708	NM_007294.3:c.5419delA	NP_009225.1:p.Ile1807Leufs	NC_000017.10:g.41199708delT	Breast Cancer Information Core (BRCA1):5537&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5417delC (p.Pro1806Glnfs)	672	BRCA1	Pathogenic	80357558	RCV000048985; RCV000031250;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199710	41199710	NM_007294.3:c.5417delC	NP_009225.1:p.Pro1806Glnfs	NC_000017.10:g.41199710delG	Breast Cancer Information Core (BRCA1):5536&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5416C>G (p.Pro1806Ala)	672	BRCA1	Likely benign;Uncertain significance	80357241	RCV000048984; RCV000112648; RCV000164214;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199711	41199711	NM_007294.3:c.5416C>G	NP_009225.1:p.Pro1806Ala	NC_000017.10:g.41199711G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5414A>C (p.His1805Pro)	672	BRCA1	not provided	397509281	RCV000048983;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41199713	41199713	NM_007294.3:c.5414A>C	NP_009225.1:p.His1805Pro	NC_000017.10:g.41199713T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp)	672	BRCA1	Benign	80356920	RCV000048982; RCV000112647; RCV000167770; RCV000120302; RCV000148405; RCV000162993;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C1140680; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41199716	41199716	NM_007294.3:c.5411T>A	NP_009225.1:p.Val1804Asp	NC_000017.10:g.41199716A>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00096	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C1140680 Ovarian cancer
NM_007294.3(BRCA1):c.5408G>C (p.Gly1803Ala)	672	BRCA1	Uncertain significance	80357149	RCV000048981; RCV000031249;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199719	41199719	NM_007294.3:c.5408G>C	NP_009225.1:p.Gly1803Ala	NC_000017.10:g.41199719C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5407-2A>G	672	BRCA1	Pathogenic	80358002	RCV000048980; RCV000112645;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41199722	41199722	NM_007294.3:c.5407-2A>G		NC_000017.10:g.41199722T>A,NC_000017.10:g.41199722T>C	Breast Cancer Information Core (BRCA1):5526-2&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5406+7A>G	672	BRCA1	Likely benign	397509280	RCV000048979; RCV000077622;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201131	41201131	NM_007294.3:c.5406+7A>G		NC_000017.10:g.41201131T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5406+5G>T	672	BRCA1	Likely pathogenic;Pathogenic;Uncertain significance	80358073	RCV000160008; RCV000031248;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201133	41201133	NM_007294.3:c.5406+5G>T		NC_000017.10:g.41201133C>A,NC_000017.10:g.41201133C>G,NC_000017.10:g.41201133C>T	Breast Cancer Information Core (BRCA1):5525+5&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5406+5G>A	672	BRCA1	Pathogenic;Uncertain significance	80358073	RCV000048977; RCV000077621;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201133	41201133	NM_007294.3:c.5406+5G>A		NC_000017.10:g.41201133C>A,NC_000017.10:g.41201133C>G,NC_000017.10:g.41201133C>T	Breast Cancer Information Core (BRCA1):5525+5&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5406+5G>C	672	BRCA1	Uncertain significance	80358073	RCV000048978; RCV000165857;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201133	41201133	NM_007294.3:c.5406+5G>C		NC_000017.10:g.41201133C>A,NC_000017.10:g.41201133C>G,NC_000017.10:g.41201133C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5406+4A>G	672	BRCA1	not provided	397509279	RCV000048976;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201134	41201134	NM_007294.3:c.5406+4A>G		NC_000017.10:g.41201134T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5406+1_5406+3delGTA	672	BRCA1	not provided	397509277	RCV000048973; RCV000112633;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201135	41201137	NM_007294.3:c.5406+1_5406+3delGTA		NC_000017.10:g.41201135_41201137delTAC	Breast Cancer Information Core (BRCA1):5525+1&base_change=del GTA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5406+3A>T	672	BRCA1	not provided	397509278	RCV000048975;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201135	41201135	NM_007294.3:c.5406+3A>T		NC_000017.10:g.41201135T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5386dupT (p.Ser1796Phefs)	672	BRCA1	Pathogenic	80357838	RCV000048969; RCV000112631;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201158	41201158	NM_007294.3:c.5386dupT	NP_009225.1:p.Ser1796Phefs	NC_000017.10:g.41201158dupA	Breast Cancer Information Core (BRCA1):5502&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5369_5385del17 (p.Ser1790Phefs)	672	BRCA1	not provided	397509272	RCV000048964;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201159	41201175	NM_007294.3:c.5369_5385del17	NP_009225.1:p.Ser1790Phefs	NC_000017.10:g.41201159_41201175del17	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5382G>T (p.Glu1794Asp)	672	BRCA1	not provided	397509275	RCV000048968;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201162	41201162	NM_007294.3:c.5382G>T	NP_009225.1:p.Glu1794Asp	NC_000017.10:g.41201162C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5377A>T (p.Lys1793Ter)	672	BRCA1	not provided	397509274	RCV000048967;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201167	41201167	NM_007294.3:c.5377A>T	NP_009225.1:p.Lys1793Ter	NC_000017.10:g.41201167T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5371G>T (p.Val1791Leu)	672	BRCA1	Uncertain significance	145758886	RCV000160006; RCV000210112; RCV000130773;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201173	41201173	NM_007294.3:c.5371G>T	NP_009225.1:p.Val1791Leu	NC_000017.10:g.41201173C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5365G>A (p.Ala1789Thr)	672	BRCA1	not provided	80357078	RCV000048962;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201179	41201179	NM_007294.3:c.5365G>A	NP_009225.1:p.Ala1789Thr	NC_000017.10:g.41201179C>A,NC_000017.10:g.41201179C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5365G>T (p.Ala1789Ser)	672	BRCA1	Uncertain significance	80357078	RCV000048963; RCV000112629;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201179	41201179	NM_007294.3:c.5365G>T	NP_009225.1:p.Ala1789Ser	NC_000017.10:g.41201179C>A,NC_000017.10:g.41201179C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5363G>T (p.Gly1788Val)	672	BRCA1	Pathogenic	80357069	RCV000048961; RCV000031241; RCV000162885;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201181	41201181	NM_007294.3:c.5363G>T	NP_009225.1:p.Gly1788Val	NC_000017.10:g.41201181C>A,NC_000017.10:g.41201181C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00047	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5363G>A (p.Gly1788Asp)	672	BRCA1	Pathogenic;Uncertain significance	80357069	RCV000048960; RCV000077620;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201181	41201181	NM_007294.3:c.5363G>A	NP_009225.1:p.Gly1788Asp	NC_000017.10:g.41201181C>A,NC_000017.10:g.41201181C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5362G>T (p.Gly1788Cys)	672	BRCA1	not provided	397509271	RCV000048959;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201182	41201182	NM_007294.3:c.5362G>T	NP_009225.1:p.Gly1788Cys	NC_000017.10:g.41201182C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5360_5361delGTinsAG (p.Cys1787Ter)	672	BRCA1	not provided	397509270	RCV000048958;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201183	41201184	NM_007294.3:c.5360_5361delGTinsAG	NP_009225.1:p.Cys1787Ter	NC_000017.10:g.41201183_41201184delACinsCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5359T>A (p.Cys1787Ser)	672	BRCA1	Pathogenic	80357065	RCV000048957; RCV000077619;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201185	41201185	NM_007294.3:c.5359T>A	NP_009225.1:p.Cys1787Ser	NC_000017.10:g.41201185A>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00001	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5357T>C (p.Leu1786Pro)	672	BRCA1	Uncertain significance	398122697	RCV000159852; RCV000077166;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201187	41201187	NM_007294.3:c.5357T>C	NP_009225.1:p.Leu1786Pro	NC_000017.10:g.41201187A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5355G>T (p.Gln1785His)	672	BRCA1	not provided	397509269	RCV000048956;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201189	41201189	NM_007294.3:c.5355G>T	NP_009225.1:p.Gln1785His	NC_000017.10:g.41201189C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr)	672	BRCA1	Benign;Likely benign;Uncertain significance	55808233	RCV000048954; RCV000031240; RCV000167822; RCV000129758;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41201196	41201196	NM_007294.3:c.5348T>C	NP_009225.1:p.Met1783Thr	NC_000017.10:g.41201196A>G	Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.:IBR-14	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu)	672	BRCA1	Uncertain significance	80357012	RCV000048953; RCV000112627; RCV000220027;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41201197	41201197	NM_007294.3:c.5347A>C	NP_009225.1:p.Met1783Leu	NC_000017.10:g.41201197T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter)	672	BRCA1	Pathogenic	80357284	RCV000048952; RCV000031239; RCV000131866;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201198	41201198	NM_007294.3:c.5346G>A	NP_009225.1:p.Trp1782Ter	NC_000017.10:g.41201198C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5345G>A (p.Trp1782Ter)	672	BRCA1	Pathogenic	80357219	RCV000048951; RCV000112626;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201199	41201199	NM_007294.3:c.5345G>A	NP_009225.1:p.Trp1782Ter	NC_000017.10:g.41201199C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5341G>T (p.Glu1781Ter)	672	BRCA1	Pathogenic	397509268	RCV000048949; RCV000083220;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201203	41201203	NM_007294.3:c.5341G>T	NP_009225.1:p.Glu1781Ter	NC_000017.10:g.41201203C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5341delG (p.Glu1781Asnfs)	672	BRCA1	Pathogenic	80357694	RCV000048950; RCV000112625;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201203	41201203	NM_007294.3:c.5341delG	NP_009225.1:p.Glu1781Asnfs	NC_000017.10:g.41201203delC	Breast Cancer Information Core (BRCA1):5460&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5339T>C (p.Leu1780Pro)	672	BRCA1	Uncertain significance	80357474	RCV000048948; RCV000112624; RCV000132201;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201205	41201205	NM_007294.3:c.5339T>C	NP_009225.1:p.Leu1780Pro	NC_000017.10:g.41201205A>C,NC_000017.10:g.41201205A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5335delC (p.Gln1779Asnfs)	672	BRCA1	Pathogenic	80357590	RCV000159930; RCV000031238; RCV000048947; RCV000129334;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41201209	41201209	NM_007294.3:c.5335delC	NP_009225.1:p.Gln1779Asnfs	NC_000017.10:g.41201209delG	Breast Cancer Information Core (BRCA1):5454&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5335C>T (p.Gln1779Ter)	672	BRCA1	not provided	397509267	RCV000048946;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201209	41201209	NM_007294.3:c.5335C>T	NP_009225.1:p.Gln1779Ter	NC_000017.10:g.41201209G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5333A>G (p.Asp1778Gly)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357041	RCV000048945; RCV000077617; RCV000195395; RCV000129616;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41201211	41201211	NM_007294.3:c.5333A>G	NP_009225.1:p.Asp1778Gly	NC_000017.10:g.41201211T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5333-1G>A	672	BRCA1	Likely pathogenic	80358126	RCV000048939; RCV000169281;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201212	41201212	NM_007294.3:c.5333-1G>A		NC_000017.10:g.41201212C>G,NC_000017.10:g.41201212C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5333-1G>C	672	BRCA1	Pathogenic	80358126	RCV000048940; RCV000112620;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201212	41201212	NM_007294.3:c.5333-1G>C		NC_000017.10:g.41201212C>G,NC_000017.10:g.41201212C>T	Breast Cancer Information Core (BRCA1):5452-1&base_change=G to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5333-2A>C	672	BRCA1	not provided	397509264	RCV000048941;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201213	41201213	NM_007294.3:c.5333-2A>C		NC_000017.10:g.41201213T>A,NC_000017.10:g.41201213T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5333-2A>T	672	BRCA1	Likely pathogenic	397509264	RCV000048942; RCV000077616;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41201213	41201213	NM_007294.3:c.5333-2A>T		NC_000017.10:g.41201213T>A,NC_000017.10:g.41201213T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5333-3T>G	672	BRCA1	not provided	397509265	RCV000048943;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201214	41201214	NM_007294.3:c.5333-3T>G		NC_000017.10:g.41201214A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5333-6T>G	672	BRCA1	not provided	397509266	RCV000048944;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41201217	41201217	NM_007294.3:c.5333-6T>G		NC_000017.10:g.41201217A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5332+2T>G	672	BRCA1	Pathogenic	80358182	RCV000160004;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203078	41203078	NM_007294.3:c.5332+2T>G		NC_000017.10:g.41203078A>C,NC_000017.10:g.41203078A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5332+1G>A	672	BRCA1	Pathogenic	80358041	RCV000048933; RCV000112615;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203079	41203079	NM_007294.3:c.5332+1G>A		NC_000017.10:g.41203079C>G,NC_000017.10:g.41203079C>T	Breast Cancer Information Core (BRCA1):5451+1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5332+1G>C	672	BRCA1	not provided	80358041	RCV000048934;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203079	41203079	NM_007294.3:c.5332+1G>C		NC_000017.10:g.41203079C>G,NC_000017.10:g.41203079C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5332+1delG	672	BRCA1	not provided	397509263	RCV000048935;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203079	41203079	NM_007294.3:c.5332+1delG		NC_000017.10:g.41203079delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5332G>C (p.Asp1778His)	672	BRCA1	not provided	80357112	RCV000048937;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203080	41203080	NM_007294.3:c.5332G>C	NP_009225.1:p.Asp1778His	NC_000017.10:g.41203080C>A,NC_000017.10:g.41203080C>G,NC_000017.10:g.41203080C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5332G>T (p.Asp1778Tyr)	672	BRCA1	not provided	80357112	RCV000048938;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203080	41203080	NM_007294.3:c.5332G>T	NP_009225.1:p.Asp1778Tyr	NC_000017.10:g.41203080C>A,NC_000017.10:g.41203080C>G,NC_000017.10:g.41203080C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5328dupC (p.Thr1777Hisfs)	672	BRCA1	Pathogenic	80357751	RCV000048932; RCV000112612;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203084	41203084	NM_007294.3:c.5328dupC	NP_009225.1:p.Thr1777Hisfs	NC_000017.10:g.41203084dupG	Breast Cancer Information Core (BRCA1):5447&base_change=ins C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5327C>T (p.Pro1776Leu)	672	BRCA1	Uncertain significance	398122695	RCV000160003; RCV000077164; RCV000217660;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41203085	41203085	NM_007294.3:c.5327C>T	NP_009225.1:p.Pro1776Leu	NC_000017.10:g.41203085G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg)	672	BRCA1	Pathogenic	41293463	RCV000048931; RCV000019264; RCV000167787; RCV000131375;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41203088	41203088	NM_007294.3:c.5324T>G	NP_009225.1:p.Met1775Arg	NC_000017.10:g.41203088A>C,NC_000017.10:g.41203088A>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00105,OMIM Allelic Var	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5324T>A (p.Met1775Lys)	672	BRCA1	Pathogenic	41293463	RCV000048930; RCV000019265;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203088	41203088	NM_007294.3:c.5324T>A	NP_009225.1:p.Met1775Lys	NC_000017.10:g.41203088A>C,NC_000017.10:g.41203088A>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00110,OMIM Allelic Var	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5323_5324delAT (p.Met1775Alafs)	672	BRCA1	not provided	397509262	RCV000048929;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203088	41203089	NM_007294.3:c.5323_5324delAT	NP_009225.1:p.Met1775Alafs	NC_000017.10:g.41203088_41203089delAT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5320_5321delAA (p.Asn1774Hisfs)	672	BRCA1	Pathogenic	80357818	RCV000048928; RCV000112611;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203091	41203092	NM_007294.3:c.5320_5321delAA	NP_009225.1:p.Asn1774Hisfs	NC_000017.10:g.41203091_41203092delTT	Breast Cancer Information Core (BRCA1):5439&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5318C>T (p.Thr1773Ile)	672	BRCA1	Uncertain significance	80357428	RCV000048926; RCV000077614;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203094	41203094	NM_007294.3:c.5318C>T	NP_009225.1:p.Thr1773Ile	NC_000017.10:g.41203094G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5317A>T (p.Thr1773Ser)	672	BRCA1	Likely benign;Uncertain significance	80357324	RCV000048925; RCV000077613; RCV000164158;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203095	41203095	NM_007294.3:c.5317A>T	NP_009225.1:p.Thr1773Ser	NC_000017.10:g.41203095T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5315delT (p.Phe1772Serfs)	672	BRCA1	not provided	397509261	RCV000048924;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203097	41203097	NM_007294.3:c.5315delT	NP_009225.1:p.Phe1772Serfs	NC_000017.10:g.41203097delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5312C>G (p.Pro1771Arg)	672	BRCA1	Uncertain significance	80357025	RCV000048922; RCV000112609;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203100	41203100	NM_007294.3:c.5312C>G	NP_009225.1:p.Pro1771Arg	NC_000017.10:g.41203100G>A,NC_000017.10:g.41203100G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5312C>T (p.Pro1771Leu)	672	BRCA1	Uncertain significance	80357025	RCV000048923; RCV000112610; RCV000219660;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41203100	41203100	NM_007294.3:c.5312C>T	NP_009225.1:p.Pro1771Leu	NC_000017.10:g.41203100G>A,NC_000017.10:g.41203100G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5310delG (p.Phe1772Serfs)	672	BRCA1	Pathogenic	80357581	RCV000048920; RCV000112606;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203102	41203102	NM_007294.3:c.5310delG	NP_009225.1:p.Phe1772Serfs	NC_000017.10:g.41203102delC	Breast Cancer Information Core (BRCA1):5427&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5310dupG (p.Pro1771Alafs)	672	BRCA1	not provided	397509260	RCV000048921;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203102	41203102	NM_007294.3:c.5310dupG	NP_009225.1:p.Pro1771Alafs	NC_000017.10:g.41203102dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5307T>A (p.Tyr1769Ter)	672	BRCA1	not provided	397509258	RCV000048918;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203105	41203105	NM_007294.3:c.5307T>A	NP_009225.1:p.Tyr1769Ter	NC_000017.10:g.41203105A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5306A>G (p.Tyr1769Cys)	672	BRCA1	Uncertain significance	397509257	RCV000048917; RCV000120264; RCV000166677;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	41203106	41203106	NM_007294.3:c.5306A>G	NP_009225.1:p.Tyr1769Cys	NC_000017.10:g.41203106T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.5297T>G (p.Ile1766Ser)	672	BRCA1	Pathogenic	80357463	RCV000048915; RCV000031237; RCV000218342;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41203115	41203115	NM_007294.3:c.5297T>G	NP_009225.1:p.Ile1766Ser	NC_000017.10:g.41203115A>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00044	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5293G>T (p.Glu1765Ter)	672	BRCA1	not provided	397509256	RCV000048914;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203119	41203119	NM_007294.3:c.5293G>T	NP_009225.1:p.Glu1765Ter	NC_000017.10:g.41203119C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5291T>C (p.Leu1764Pro)	672	BRCA1	Pathogenic	80357281	RCV000048913; RCV000112604;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203121	41203121	NM_007294.3:c.5291T>C	NP_009225.1:p.Leu1764Pro	NC_000017.10:g.41203121A>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00049	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5289dupG (p.Leu1764Alafs)	672	BRCA1	Pathogenic	80357886	RCV000048912; RCV000112602;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203123	41203123	NM_007294.3:c.5289dupG	NP_009225.1:p.Leu1764Alafs	NC_000017.10:g.41203123dupC	Breast Cancer Information Core (BRCA1):5404&base_change=ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5289delG (p.Leu1764Terfs)	672	BRCA1	not provided	397509255	RCV000048911;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203123	41203123	NM_007294.3:c.5289delG	NP_009225.1:p.Leu1764Terfs	NC_000017.10:g.41203123delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5288G>T (p.Gly1763Val)	672	BRCA1	Likely pathogenic;Uncertain significance	80357007	RCV000048910; RCV000112603; RCV000212199;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41203124	41203124	NM_007294.3:c.5288G>T	NP_009225.1:p.Gly1763Val	NC_000017.10:g.41203124C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007294.3(BRCA1):c.5284delA (p.Arg1762Glyfs)	672	BRCA1	Pathogenic	80357684	RCV000048909; RCV000112601;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203128	41203128	NM_007294.3:c.5284delA	NP_009225.1:p.Arg1762Glyfs	NC_000017.10:g.41203128delT	Breast Cancer Information Core (BRCA1):5403&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5282T>C (p.Phe1761Ser)	672	BRCA1	Uncertain significance	80356905	RCV000048908; RCV000112600; RCV000131349;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203130	41203130	NM_007294.3:c.5282T>C	NP_009225.1:p.Phe1761Ser	NC_000017.10:g.41203130A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5278-1G>A	672	BRCA1	Pathogenic	80358099	RCV000048903; RCV000112597;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203135	41203135	NM_007294.3:c.5278-1G>A		NC_000017.10:g.41203135C>A,NC_000017.10:g.41203135C>G,NC_000017.10:g.41203135C>T	Breast Cancer Information Core (BRCA1):5397-1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5278-1G>C	672	BRCA1	Pathogenic	80358099	RCV000048904; RCV000077612; RCV000129416;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41203135	41203135	NM_007294.3:c.5278-1G>C		NC_000017.10:g.41203135C>A,NC_000017.10:g.41203135C>G,NC_000017.10:g.41203135C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5278-1G>T	672	BRCA1	Pathogenic	80358099	RCV000048905; RCV000112598; RCV000212198;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41203135	41203135	NM_007294.3:c.5278-1G>T		NC_000017.10:g.41203135C>A,NC_000017.10:g.41203135C>G,NC_000017.10:g.41203135C>T	Breast Cancer Information Core (BRCA1):5397-1&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007294.3(BRCA1):c.5278-2A>T	672	BRCA1	not provided	397509253	RCV000048906;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203136	41203136	NM_007294.3:c.5278-2A>T		NC_000017.10:g.41203136T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5278-6_5278-4delTTC	672	BRCA1	not provided	397509254	RCV000048907;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41203138	41203140	NM_007294.3:c.5278-6_5278-4delTTC		NC_000017.10:g.41203138_41203140delGAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5277+21T>G	672	BRCA1	not provided	397509249	RCV000048898;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209048	41209048	NM_007294.3:c.5277+21T>G		NC_000017.10:g.41209048A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5277+5A>T	672	BRCA1	not provided	397509252	RCV000048901;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209064	41209064	NM_007294.3:c.5277+5A>T		NC_000017.10:g.41209064T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5277+4A>T	672	BRCA1	not provided	397509251	RCV000048900;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209065	41209065	NM_007294.3:c.5277+4A>T		NC_000017.10:g.41209065T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5277+3A>C	672	BRCA1	not provided	397509250	RCV000048899;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209066	41209066	NM_007294.3:c.5277+3A>C		NC_000017.10:g.41209066T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5277+1G>A	672	BRCA1	Pathogenic	80358150	RCV000074601; RCV000031235; RCV000131865;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209068	41209068	NM_007294.3:c.5277+1G>A		NC_000017.10:g.41209068C>G,NC_000017.10:g.41209068C>T	Breast Cancer Information Core (BRCA1):5396+1&base_change=G to A,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5277+1G>C	672	BRCA1	not provided	80358150	RCV000048897;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209068	41209068	NM_007294.3:c.5277+1G>C		NC_000017.10:g.41209068C>G,NC_000017.10:g.41209068C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5277G>A (p.Lys1759=)	672	BRCA1	Pathogenic;Uncertain significance	80356854	RCV000048902; RCV000112596; RCV000216088;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41209069	41209069	NM_007294.3:c.5277G>A	NP_009225.1:p.Lys1759=	NC_000017.10:g.41209069C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4358-?_5277+?del	672	BRCA1	Pathogenic	-1	RCV000074593; RCV000119187;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	17	41209069	41228631	NM_007294.3:c.4358-?_5277+?del			-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.5270_5276delACAGAAA (p.Asp1757Glyfs)	672	BRCA1	not provided	397509248	RCV000048894;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209070	41209076	NM_007294.3:c.5270_5276delACAGAAA	NP_009225.1:p.Asp1757Glyfs	NC_000017.10:g.41209070_41209076delTTTCTGT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5274delA (p.Lys1759Argfs)	672	BRCA1	Pathogenic	80357732	RCV000048895; RCV000112587;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209072	41209072	NM_007294.3:c.5274delA	NP_009225.1:p.Lys1759Argfs	NC_000017.10:g.41209072delT	Breast Cancer Information Core (BRCA1):5393&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5266C>T (p.Gln1756Ter)	672	BRCA1	not provided	397509247	RCV000048892;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209080	41209080	NM_007294.3:c.5266C>T	NP_009225.1:p.Gln1756Ter	NC_000017.10:g.41209080G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs)	672	BRCA1	Pathogenic;risk factor	80357906	RCV000056287; RCV000019246; RCV000019247; RCV000119097; RCV000131328;	Y	; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41209082	41209082	NM_007294.3:c.5266dupC	NP_009225.1:p.Gln1756Profs	NC_000017.10:g.41209082dupG	Breast Cancer Information Core (BRCA1):5382&base_change=ins C,OMIM Allelic Variant:113705.0018	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5258G>A (p.Arg1753Lys)	672	BRCA1	not provided	397509246	RCV000048889;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209088	41209088	NM_007294.3:c.5258G>A	NP_009225.1:p.Arg1753Lys	NC_000017.10:g.41209088C>G,NC_000017.10:g.41209088C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5258G>C (p.Arg1753Thr)	672	BRCA1	not provided	397509246	RCV000048890;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209088	41209088	NM_007294.3:c.5258G>C	NP_009225.1:p.Arg1753Thr	NC_000017.10:g.41209088C>G,NC_000017.10:g.41209088C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5257dupA (p.Arg1753Lysfs)	672	BRCA1	not provided	397509245	RCV000048888;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209089	41209089	NM_007294.3:c.5257dupA	NP_009225.1:p.Arg1753Lysfs	NC_000017.10:g.41209089dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5256A>C (p.Ala1752=)	672	BRCA1	Uncertain significance	80356844	RCV000048887; RCV000112583;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209090	41209090	NM_007294.3:c.5256A>C	NP_009225.1:p.Ala1752=	NC_000017.10:g.41209090T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5255C>T (p.Ala1752Val)	672	BRCA1	Uncertain significance	80357028	RCV000048886; RCV000112582;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209091	41209091	NM_007294.3:c.5255C>T	NP_009225.1:p.Ala1752Val	NC_000017.10:g.41209091G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5254G>C (p.Ala1752Pro)	672	BRCA1	Uncertain significance	80357074	RCV000048885; RCV000112581;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209092	41209092	NM_007294.3:c.5254G>C	NP_009225.1:p.Ala1752Pro	NC_000017.10:g.41209092C>G,NC_000017.10:g.41209092C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln)	672	BRCA1	Benign	80357442	RCV000048883; RCV000112579; RCV000168520; RCV000162992; RCV000148392;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221562	17	41209094	41209094	NM_007294.3:c.5252G>A	NP_009225.1:p.Arg1751Gln	NC_000017.10:g.41209094C>G,NC_000017.10:g.41209094C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00095	CN221562 Breast and/or ovarian cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.5252G>C (p.Arg1751Pro)	672	BRCA1	Uncertain significance	80357442	RCV000048884; RCV000112580;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209094	41209094	NM_007294.3:c.5252G>C	NP_009225.1:p.Arg1751Pro	NC_000017.10:g.41209094C>G,NC_000017.10:g.41209094C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter)	672	BRCA1	Pathogenic	80357123	RCV000074600; RCV000077611; RCV000048882; RCV000162884;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41209095	41209095	NM_007294.3:c.5251C>T	NP_009225.1:p.Arg1751Ter	NC_000017.10:g.41209095G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5209_5248del40insTC (p.Arg1737Serfs)	672	BRCA1	Pathogenic	273901753	RCV000048861; RCV000112565;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209098	41209137	NM_007294.3:c.5209_5248del40insTC	NP_009225.1:p.Arg1737Serfs	NC_000017.10:g.41209098_41209137del40insGA	Breast Cancer Information Core (BRCA1):5328&base_change=del 40 ins TC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5246C>G (p.Pro1749Arg)	672	BRCA1	Pathogenic;Uncertain significance	80357462	RCV000048881; RCV000112578; RCV000212197;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41209100	41209100	NM_007294.3:c.5246C>G	NP_009225.1:p.Pro1749Arg	NC_000017.10:g.41209100G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007294.3(BRCA1):c.5245C>G (p.Pro1749Ala)	672	BRCA1	not provided	397509244	RCV000048880;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209101	41209101	NM_007294.3:c.5245C>G	NP_009225.1:p.Pro1749Ala	NC_000017.10:g.41209101G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5243G>A (p.Gly1748Asp)	672	BRCA1	Uncertain significance	397509243	RCV000048878; RCV000077610; RCV000212196; RCV000164686;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41209103	41209103	NM_007294.3:c.5243G>A	NP_009225.1:p.Gly1748Asp	NC_000017.10:g.41209103C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.5243delG (p.Gly1748Valfs)	672	BRCA1	Pathogenic	80357676	RCV000048879; RCV000112577;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209103	41209103	NM_007294.3:c.5243delG	NP_009225.1:p.Gly1748Valfs	NC_000017.10:g.41209103delC	Breast Cancer Information Core (BRCA1):5362&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5242G>A (p.Gly1748Ser)	672	BRCA1	not provided	397507245	RCV000048877;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209104	41209104	NM_007294.3:c.5242G>A	NP_009225.1:p.Gly1748Ser	NC_000017.10:g.41209104C>A,NC_000017.10:g.41209104C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5241A>C (p.Gln1747His)	672	BRCA1	not provided	397509242	RCV000048876;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209105	41209105	NM_007294.3:c.5241A>C	NP_009225.1:p.Gln1747His	NC_000017.10:g.41209105T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5239C>T (p.Gln1747Ter)	672	BRCA1	Pathogenic	80357367	RCV000048875; RCV000112575;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209107	41209107	NM_007294.3:c.5239C>T	NP_009225.1:p.Gln1747Ter	NC_000017.10:g.41209107G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5236C>A (p.His1746Asn)	672	BRCA1	Uncertain significance	80357146	RCV000048874; RCV000112574; RCV000130393;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209110	41209110	NM_007294.3:c.5236C>A	NP_009225.1:p.His1746Asn	NC_000017.10:g.41209110G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5231delG (p.Arg1744Lysfs)	672	BRCA1	not provided	397509241	RCV000048873;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209115	41209115	NM_007294.3:c.5231delG	NP_009225.1:p.Arg1744Lysfs	NC_000017.10:g.41209115delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5229_5230delAA (p.Arg1744Lysfs)	672	BRCA1	Pathogenic	80357852	RCV000048871; RCV000112572;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209116	41209117	NM_007294.3:c.5229_5230delAA	NP_009225.1:p.Arg1744Lysfs	NC_000017.10:g.41209116_41209117delTT	Breast Cancer Information Core (BRCA1):5348&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5230delA (p.Arg1744Glufs)	672	BRCA1	Pathogenic	397509240	RCV000048872; RCV000217310;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41209116	41209116	NM_007294.3:c.5230delA	NP_009225.1:p.Arg1744Glufs	NC_000017.10:g.41209116delT	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5222T>G (p.Val1741Gly)	672	BRCA1	Uncertain significance	80357023	RCV000048870; RCV000112571;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209124	41209124	NM_007294.3:c.5222T>G	NP_009225.1:p.Val1741Gly	NC_000017.10:g.41209124A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5217T>G (p.Asp1739Glu)	672	BRCA1	Uncertain significance	80357340	RCV000048869; RCV000112570;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209129	41209129	NM_007294.3:c.5217T>G	NP_009225.1:p.Asp1739Glu	NC_000017.10:g.41209129A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly)	672	BRCA1	Uncertain significance	80357227	RCV000048867; RCV000112569;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209130	41209130	NM_007294.3:c.5216A>G	NP_009225.1:p.Asp1739Gly	NC_000017.10:g.41209130T>A,NC_000017.10:g.41209130T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val)	672	BRCA1	not provided	80357227	RCV000048868;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209130	41209130	NM_007294.3:c.5216A>T	NP_009225.1:p.Asp1739Val	NC_000017.10:g.41209130T>A,NC_000017.10:g.41209130T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5213_5215delGAG (p.Gly1738del)	672	BRCA1	Uncertain significance	80358347	RCV000048865; RCV000112567; RCV000129556;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209131	41209133	NM_007294.3:c.5213_5215delGAG	NP_009225.1:p.Gly1738del	NC_000017.10:g.41209131_41209133delCTC	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5215G>T (p.Asp1739Tyr)	672	BRCA1	Uncertain significance	80357283	RCV000048866; RCV000112568;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209131	41209131	NM_007294.3:c.5215G>T	NP_009225.1:p.Asp1739Tyr	NC_000017.10:g.41209131C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5213G>A (p.Gly1738Glu)	672	BRCA1	Likely pathogenic;Uncertain significance	80357450	RCV000048864; RCV000077609;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209133	41209133	NM_007294.3:c.5213G>A	NP_009225.1:p.Gly1738Glu	NC_000017.10:g.41209133C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5212G>A (p.Gly1738Arg)	672	BRCA1	Pathogenic	80356937	RCV000048863; RCV000112566;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209134	41209134	NM_007294.3:c.5212G>A	NP_009225.1:p.Gly1738Arg	NC_000017.10:g.41209134C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00043	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5209A>T (p.Arg1737Ter)	672	BRCA1	Pathogenic	80357496	RCV000048860; RCV000112564;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209137	41209137	NM_007294.3:c.5209A>T	NP_009225.1:p.Arg1737Ter	NC_000017.10:g.41209137T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala)	672	BRCA1	Likely pathogenic;Pathogenic;Uncertain significance	45553935	RCV000048857; RCV000031229; RCV000195366; RCV000131291;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41209139	41209139	NM_007294.3:c.5207T>C	NP_009225.1:p.Val1736Ala	NC_000017.10:g.41209139A>C,NC_000017.10:g.41209139A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5207T>G (p.Val1736Gly)	672	BRCA1	Uncertain significance	45553935	RCV000048858; RCV000112563;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209139	41209139	NM_007294.3:c.5207T>G	NP_009225.1:p.Val1736Gly	NC_000017.10:g.41209139A>C,NC_000017.10:g.41209139A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5207delT (p.Val1736Alafs)	672	BRCA1	not provided	397509239	RCV000048859;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209139	41209139	NM_007294.3:c.5207delT	NP_009225.1:p.Val1736Alafs	NC_000017.10:g.41209139delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5205delA (p.Val1736Serfs)	672	BRCA1	Pathogenic	587781258	RCV000128632;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209141	41209141	NM_007294.3:c.5205delA	NP_009225.1:p.Val1736Serfs	NC_000017.10:g.41209141delT	VariO:0043	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5203G>A (p.Glu1735Lys)	672	BRCA1	not provided	397509238	RCV000048856;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209143	41209143	NM_007294.3:c.5203G>A	NP_009225.1:p.Glu1735Lys	NC_000017.10:g.41209143C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5201T>C (p.Phe1734Ser)	672	BRCA1	not provided	397509237	RCV000048855;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209145	41209145	NM_007294.3:c.5201T>C	NP_009225.1:p.Phe1734Ser	NC_000017.10:g.41209145A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5198A>G (p.Asp1733Gly)	672	BRCA1	Likely benign;Uncertain significance	80357270	RCV000048854; RCV000112560; RCV000129798;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209148	41209148	NM_007294.3:c.5198A>G	NP_009225.1:p.Asp1733Gly	NC_000017.10:g.41209148T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5194-2A>G	672	BRCA1	Pathogenic	80358069	RCV000048853; RCV000031228; RCV000131860;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209154	41209154	NM_007294.3:c.5194-2A>G		NC_000017.10:g.41209154T>C,NC_000017.10:g.41209154T>G	Breast Cancer Information Core (BRCA1):5313-2&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5194-2A>C	672	BRCA1	not provided	80358069	RCV000048852;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41209154	41209154	NM_007294.3:c.5194-2A>C		NC_000017.10:g.41209154T>C,NC_000017.10:g.41209154T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5194-12G>A	672	BRCA1	Pathogenic	80358079	RCV000048851; RCV000077608;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41209164	41209164	NM_007294.3:c.5194-12G>A		NC_000017.10:g.41209164C>T	Breast Cancer Information Core (BRCA1):5313-12&base_change=G to A,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified b	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5193+2delT	672	BRCA1	Pathogenic	273901751	RCV000048850; RCV000083219; RCV000217180;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41215348	41215348	NM_007294.3:c.5193+2delT		NC_000017.10:g.41215348delA	Breast Cancer Information Core (BRCA1):5312+2&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5193+1G>C	672	BRCA1	Pathogenic	80358004	RCV000048848; RCV000112550; RCV000131171;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215349	41215349	NM_007294.3:c.5193+1G>C		NC_000017.10:g.41215349C>A,NC_000017.10:g.41215349C>G,NC_000017.10:g.41215349C>T	Breast Cancer Information Core (BRCA1):5312+1&base_change=G to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5193+1delG	672	BRCA1	not provided	397509236	RCV000048849;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215349	41215349	NM_007294.3:c.5193+1delG		NC_000017.10:g.41215349delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5193+1G>T	672	BRCA1	Pathogenic	80358004	RCV000160001; RCV000077159;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215349	41215349	NM_007294.3:c.5193+1G>T		NC_000017.10:g.41215349C>A,NC_000017.10:g.41215349C>G,NC_000017.10:g.41215349C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5179_5192delAAAATGCTGAATGA (p.Lys1727Alafs)	672	BRCA1	not provided	397509234	RCV000048845;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215351	41215364	NM_007294.3:c.5179_5192delAAAATGCTGAATGA	NP_009225.1:p.Lys1727Alafs	NC_000017.10:g.41215351_41215364delTCATTCAGCATTTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5189A>G (p.Asn1730Ser)	672	BRCA1	Uncertain significance	80357171	RCV000048847; RCV000077607; RCV000132266;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215354	41215354	NM_007294.3:c.5189A>G	NP_009225.1:p.Asn1730Ser	NC_000017.10:g.41215354T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5182delA (p.Met1728Cysfs)	672	BRCA1	not provided	397509235	RCV000048846;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215361	41215361	NM_007294.3:c.5182delA	NP_009225.1:p.Met1728Cysfs	NC_000017.10:g.41215361delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5177_5180delGAAA (p.Arg1726Lysfs)	672	BRCA1	Pathogenic	80357867	RCV000048843; RCV000031225; RCV000167855; RCV000131829;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41215363	41215366	NM_007294.3:c.5177_5180delGAAA	NP_009225.1:p.Arg1726Lysfs	NC_000017.10:g.41215363_41215366delTTTC	Breast Cancer Information Core (BRCA1):5292&base_change=del GAAA,Breast Cancer Information Core (BRCA1):5296&base_change=del GAAA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5177_5178delGA (p.Arg1726Lysfs)	672	BRCA1	Pathogenic	80357730	RCV000048842; RCV000112546;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215365	41215366	NM_007294.3:c.5177_5178delGA	NP_009225.1:p.Arg1726Lysfs	NC_000017.10:g.41215365_41215366delTC	Breast Cancer Information Core (BRCA1):5296&base_change=del GA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5176A>G (p.Arg1726Gly)	672	BRCA1	Benign;Uncertain significance	80357501	RCV000048841; RCV000083218; RCV000164694;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215367	41215367	NM_007294.3:c.5176A>G	NP_009225.1:p.Arg1726Gly	NC_000017.10:g.41215367T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5173G>T (p.Glu1725Ter)	672	BRCA1	Pathogenic	80357291	RCV000048840; RCV000112544;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215370	41215370	NM_007294.3:c.5173G>T	NP_009225.1:p.Glu1725Ter	NC_000017.10:g.41215370C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe)	672	BRCA1	Pathogenic;Uncertain significance	80357104	RCV000048839; RCV000077606; RCV000214443;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41215378	41215378	NM_007294.3:c.5165C>T	NP_009225.1:p.Ser1722Phe	NC_000017.10:g.41215378G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5161_5163delCAG (p.Gln1721del)	672	BRCA1	Uncertain significance	80358346	RCV000048837; RCV000112542;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215380	41215382	NM_007294.3:c.5161_5163delCAG	NP_009225.1:p.Gln1721del	NC_000017.10:g.41215380_41215382delCTG	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5162delA (p.Gln1721Argfs)	672	BRCA1	not provided	397509233	RCV000048838;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215381	41215381	NM_007294.3:c.5162delA	NP_009225.1:p.Gln1721Argfs	NC_000017.10:g.41215381delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5156_5157delTG (p.Val1719Aspfs)	672	BRCA1	Pathogenic	80357895	RCV000048835; RCV000112541;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215386	41215387	NM_007294.3:c.5156_5157delTG	NP_009225.1:p.Val1719Aspfs	NC_000017.10:g.41215386_41215387delCA	Breast Cancer Information Core (BRCA1):5275&base_change=del TG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5155delG (p.Val1719Terfs)	672	BRCA1	Pathogenic	80357743	RCV000048834; RCV000112540;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215388	41215388	NM_007294.3:c.5155delG	NP_009225.1:p.Val1719Terfs	NC_000017.10:g.41215388delC	Breast Cancer Information Core (BRCA1):5274&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5154G>A (p.Trp1718Ter)	672	BRCA1	Pathogenic	80357239	RCV000048832; RCV000077604; RCV000212195;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41215389	41215389	NM_007294.3:c.5154G>A	NP_009225.1:p.Trp1718Ter	NC_000017.10:g.41215389C>A,NC_000017.10:g.41215389C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007294.3(BRCA1):c.5154G>T (p.Trp1718Cys)	672	BRCA1	Likely pathogenic;Uncertain significance	80357239	RCV000048833; RCV000112539; RCV000129752;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215389	41215389	NM_007294.3:c.5154G>T	NP_009225.1:p.Trp1718Cys	NC_000017.10:g.41215389C>A,NC_000017.10:g.41215389C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5153G>A (p.Trp1718Ter)	672	BRCA1	Pathogenic	41293461	RCV000048830; RCV000112537; RCV000131832;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215390	41215390	NM_007294.3:c.5153G>A	NP_009225.1:p.Trp1718Ter	NC_000017.10:g.41215390C>G,NC_000017.10:g.41215390C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5153G>C (p.Trp1718Ser)	672	BRCA1	Uncertain significance	41293461	RCV000048831; RCV000112538;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215390	41215390	NM_007294.3:c.5153G>C	NP_009225.1:p.Trp1718Ser	NC_000017.10:g.41215390C>G,NC_000017.10:g.41215390C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5153-1G>C	672	BRCA1	Pathogenic	80358137	RCV000048827; RCV000031224;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215391	41215391	NM_007294.3:c.5153-1G>C		NC_000017.10:g.41215391C>A,NC_000017.10:g.41215391C>G,NC_000017.10:g.41215391C>T	Breast Cancer Information Core (BRCA1):5272-1&base_change=G to C,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5153-1G>A	672	BRCA1	Pathogenic	80358137	RCV000048826; RCV000112530;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215391	41215391	NM_007294.3:c.5153-1G>A		NC_000017.10:g.41215391C>A,NC_000017.10:g.41215391C>G,NC_000017.10:g.41215391C>T	Breast Cancer Information Core (BRCA1):5272-1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5153-1G>T	672	BRCA1	not provided	80358137	RCV000048828;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215391	41215391	NM_007294.3:c.5153-1G>T		NC_000017.10:g.41215391C>A,NC_000017.10:g.41215391C>G,NC_000017.10:g.41215391C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5153-2delA	672	BRCA1	Pathogenic	273901746	RCV000048829; RCV000077603; RCV000129629;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215392	41215392	NM_007294.3:c.5153-2delA		NC_000017.10:g.41215392delT	Breast Cancer Information Core (BRCA1):5272-2&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5152+66G>A	672	BRCA1	Benign	3092994	RCV000048825; RCV000112521;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215825	41215825	NM_007294.3:c.5152+66G>A		NC_000017.10:g.41215825C>T	Breast Cancer Information Core (BRCA1):5271+66&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5152+5G>A	672	BRCA1	Likely pathogenic;Uncertain significance	80358165	RCV000048824; RCV000083217;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215886	41215886	NM_007294.3:c.5152+5G>A		NC_000017.10:g.41215886C>G,NC_000017.10:g.41215886C>T	Breast Cancer Information Core (BRCA1):5271+5&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5152+4A>G	672	BRCA1	not provided	397509232	RCV000048823;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215887	41215887	NM_007294.3:c.5152+4A>G		NC_000017.10:g.41215887T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5152+3A>C	672	BRCA1	Pathogenic	80358124	RCV000048822; RCV000112517;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215888	41215888	NM_007294.3:c.5152+3A>C		NC_000017.10:g.41215888T>G	Breast Cancer Information Core (BRCA1):5271+3&base_change=A to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5152+1G>C	672	BRCA1	Pathogenic	80358094	RCV000048819; RCV000031223;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215890	41215890	NM_007294.3:c.5152+1G>C		NC_000017.10:g.41215890C>A,NC_000017.10:g.41215890C>G,NC_000017.10:g.41215890C>T	Breast Cancer Information Core (BRCA1):5271+1&base_change=G to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.548-?_5193+?del	672	BRCA1	Pathogenic	-1	RCV000074604;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215891	41249306	NM_007294.3:c.548-?_5193+?del			-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5150delT (p.Phe1717Serfs)	672	BRCA1	Pathogenic	80357720	RCV000048818; RCV000112511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215893	41215893	NM_007294.3:c.5150delT	NP_009225.1:p.Phe1717Serfs	NC_000017.10:g.41215893delA	Breast Cancer Information Core (BRCA1):5269&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5148T>G (p.Tyr1716Ter)	672	BRCA1	not provided	397509230	RCV000048815;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215895	41215895	NM_007294.3:c.5148T>G	NP_009225.1:p.Tyr1716Ter	NC_000017.10:g.41215895A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5145C>A (p.Ser1715Arg)	672	BRCA1	Uncertain significance	80357094	RCV000048813; RCV000112508;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215898	41215898	NM_007294.3:c.5145C>A	NP_009225.1:p.Ser1715Arg	NC_000017.10:g.41215898G>C,NC_000017.10:g.41215898G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5145C>G (p.Ser1715Arg)	672	BRCA1	Uncertain significance	80357094	RCV000048814; RCV000112509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215898	41215898	NM_007294.3:c.5145C>G	NP_009225.1:p.Ser1715Arg	NC_000017.10:g.41215898G>C,NC_000017.10:g.41215898G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5144G>A (p.Ser1715Asn)	672	BRCA1	Uncertain significance	45444999	RCV000048812; RCV000112507;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215899	41215899	NM_007294.3:c.5144G>A	NP_009225.1:p.Ser1715Asn	NC_000017.10:g.41215899C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5143A>C (p.Ser1715Arg)	672	BRCA1	Pathogenic	80357222	RCV000048810; RCV000112505;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215900	41215900	NM_007294.3:c.5143A>C	NP_009225.1:p.Ser1715Arg	NC_000017.10:g.41215900T>A,NC_000017.10:g.41215900T>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00051	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5143A>T (p.Ser1715Cys)	672	BRCA1	Likely pathogenic;Uncertain significance	80357222	RCV000048811; RCV000112506; RCV000129744;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215900	41215900	NM_007294.3:c.5143A>T	NP_009225.1:p.Ser1715Cys	NC_000017.10:g.41215900T>A,NC_000017.10:g.41215900T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5141T>G (p.Val1714Gly)	672	BRCA1	Uncertain significance	80357243	RCV000048809; RCV000112504; RCV000129696;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215902	41215902	NM_007294.3:c.5141T>G	NP_009225.1:p.Val1714Gly	NC_000017.10:g.41215902A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5136G>A (p.Trp1712Ter)	672	BRCA1	Pathogenic	80357418	RCV000048806; RCV000077600; RCV000131830;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215907	41215907	NM_007294.3:c.5136G>A	NP_009225.1:p.Trp1712Ter	NC_000017.10:g.41215907C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5128G>T (p.Gly1710Ter)	672	BRCA1	not provided	397509229	RCV000048805;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215915	41215915	NM_007294.3:c.5128G>T	NP_009225.1:p.Gly1710Ter	NC_000017.10:g.41215915C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5126delG (p.Gly1709Glufs)	672	BRCA1	Pathogenic	80357874	RCV000048804; RCV000112501;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215917	41215917	NM_007294.3:c.5126delG	NP_009225.1:p.Gly1709Glufs	NC_000017.10:g.41215917delC	Breast Cancer Information Core (BRCA1):5245&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5123C>T (p.Ala1708Val)	672	BRCA1	Uncertain significance	28897696	RCV000048803; RCV000031221; RCV000212194; RCV000131166; RCV000148393;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221562	17	41215920	41215920	NM_007294.3:c.5123C>T	NP_009225.1:p.Ala1708Val	NC_000017.10:g.41215920G>A,NC_000017.10:g.41215920G>T	-	CN221562 Breast and/or ovarian cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.5123C>A (p.Ala1708Glu)	672	BRCA1	Pathogenic	28897696	RCV000048802; RCV000077599; RCV000167826; RCV000131831;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41215920	41215920	NM_007294.3:c.5123C>A	NP_009225.1:p.Ala1708Glu	NC_000017.10:g.41215920G>A,NC_000017.10:g.41215920G>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00045	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5117G>A (p.Gly1706Glu)	672	BRCA1	Pathogenic	80356860	RCV000048800; RCV000031219; RCV000221607; RCV000219187;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41215926	41215926	NM_007294.3:c.5117G>A	NP_009225.1:p.Gly1706Glu	NC_000017.10:g.41215926C>G,NC_000017.10:g.41215926C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00048	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5113C>T (p.Leu1705=)	672	BRCA1	Benign	80356858	RCV000048799; RCV000112500;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215930	41215930	NM_007294.3:c.5113C>T	NP_009225.1:p.Leu1705=	NC_000017.10:g.41215930G>A,NC_000017.10:g.41215930G>C	Breast Cancer Information Core (BRCA1):5232&base_change=C to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5112delT (p.Leu1705Terfs)	672	BRCA1	Pathogenic	397509228	RCV000048798; RCV000129513;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215931	41215931	NM_007294.3:c.5112delT	NP_009225.1:p.Leu1705Terfs	NC_000017.10:g.41215931delA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5106delA (p.Lys1702Asnfs)	672	BRCA1	Pathogenic	80357553	RCV000048796; RCV000112499; RCV000166104;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215937	41215937	NM_007294.3:c.5106delA	NP_009225.1:p.Lys1702Asnfs	NC_000017.10:g.41215937delT	Breast Cancer Information Core (BRCA1):5225&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5102_5103delTG (p.Leu1701Glnfs)	672	BRCA1	Pathogenic	80357608	RCV000048795; RCV000077596;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215940	41215941	NM_007294.3:c.5102_5103delTG	NP_009225.1:p.Leu1701Glnfs	NC_000017.10:g.41215940_41215941delCA	Breast Cancer Information Core (BRCA1):5221&base_change=del TG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5098A>G (p.Thr1700Ala)	672	BRCA1	not provided	397509227	RCV000048793;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215945	41215945	NM_007294.3:c.5098A>G	NP_009225.1:p.Thr1700Ala	NC_000017.10:g.41215945T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5096G>A (p.Arg1699Gln)	672	BRCA1	Likely pathogenic;Pathogenic;Uncertain significance	41293459	RCV000048790; RCV000031217; RCV000195350; RCV000131564;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41215947	41215947	NM_007294.3:c.5096G>A	NP_009225.1:p.Arg1699Gln	NC_000017.10:g.41215947C>A,NC_000017.10:g.41215947C>G,NC_000017.10:g.41215947C>T	OMIM Allelic Variant:113705.0037	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5096G>C (p.Arg1699Pro)	672	BRCA1	Uncertain significance	41293459	RCV000048791; RCV000112496;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215947	41215947	NM_007294.3:c.5096G>C	NP_009225.1:p.Arg1699Pro	NC_000017.10:g.41215947C>A,NC_000017.10:g.41215947C>G,NC_000017.10:g.41215947C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5096G>T (p.Arg1699Leu)	672	BRCA1	Uncertain significance	41293459	RCV000048792; RCV000112497;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215947	41215947	NM_007294.3:c.5096G>T	NP_009225.1:p.Arg1699Leu	NC_000017.10:g.41215947C>A,NC_000017.10:g.41215947C>G,NC_000017.10:g.41215947C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5095C>A (p.Arg1699=)	672	BRCA1	Likely benign	55770810	RCV000048788; RCV000165701;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215948	41215948	NM_007294.3:c.5095C>A	NP_009225.1:p.Arg1699=	NC_000017.10:g.41215948G>A,NC_000017.10:g.41215948G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp)	672	BRCA1	Pathogenic	55770810	RCV000159999; RCV000191041; RCV000077595; RCV000048789; RCV000131821; RCV000148390;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:C3469521,OMIM:227650; MedGen:CN221560	17	41215948	41215948	NM_007294.3:c.5095C>T	NP_009225.1:p.Arg1699Trp	NC_000017.10:g.41215948G>A,NC_000017.10:g.41215948G>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00046	CN221560 Breast and colorectal cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3469521 227650 Fanconi anemia, complementation group A; C0677776 Hereditary breast and ovarian cancer syndrome; C00276
NM_007294.3(BRCA1):c.5091_5092delTG (p.Cys1697Terfs)	672	BRCA1	Pathogenic	80357710	RCV000048787; RCV000112495;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215951	41215952	NM_007294.3:c.5091_5092delTG	NP_009225.1:p.Cys1697Terfs	NC_000017.10:g.41215951_41215952delCA	Breast Cancer Information Core (BRCA1):5210&base_change=del TG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5089T>C (p.Cys1697Arg)	672	BRCA1	Likely pathogenic;Uncertain significance	80356993	RCV000048785; RCV000077594; RCV000163799;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215954	41215954	NM_007294.3:c.5089T>C	NP_009225.1:p.Cys1697Arg	NC_000017.10:g.41215954A>G,NC_000017.10:g.41215954A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5087T>A (p.Val1696Glu)	672	BRCA1	not provided	397509226	RCV000048784;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215956	41215956	NM_007294.3:c.5087T>A	NP_009225.1:p.Val1696Glu	NC_000017.10:g.41215956A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5086G>C (p.Val1696Leu)	672	BRCA1	Uncertain significance	80357125	RCV000048783; RCV000112494;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215957	41215957	NM_007294.3:c.5086G>C	NP_009225.1:p.Val1696Leu	NC_000017.10:g.41215957C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5084_5085delTT (p.Phe1695Cysfs)	672	BRCA1	Pathogenic	80357760	RCV000048781; RCV000112492;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215958	41215959	NM_007294.3:c.5084_5085delTT	NP_009225.1:p.Phe1695Cysfs	NC_000017.10:g.41215958_41215959delAA	Breast Cancer Information Core (BRCA1):5203&base_change=del TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5085T>A (p.Phe1695Leu)	672	BRCA1	Uncertain significance	80357387	RCV000048782; RCV000112493;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215958	41215958	NM_007294.3:c.5085T>A	NP_009225.1:p.Phe1695Leu	NC_000017.10:g.41215958A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5077_5080delGCTGinsTTCATTCTGC (p.Ala1693_Glu1694delinsPheIleLeuGln)	672	BRCA1	not provided	397509224	RCV000048778;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215963	41215966	NM_007294.3:c.5077_5080delGCTGinsTTCATTCTGC	NP_009225.1:p.Ala1693_Glu1694delinsPheIleLeuGln	NC_000017.10:g.41215963_41215966delCAGCinsGCAGAATGAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5078_5080delCTG (p.Ala1693del)	672	BRCA1	Likely pathogenic;Uncertain significance	80358345	RCV000048779; RCV000083215; RCV000166817;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215963	41215965	NM_007294.3:c.5078_5080delCTG	NP_009225.1:p.Ala1693del	NC_000017.10:g.41215963_41215965delCAG	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5075_5078delATGC (p.Asp1692Valfs)	672	BRCA1	not provided	397509223	RCV000048777;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215965	41215968	NM_007294.3:c.5075_5078delATGC	NP_009225.1:p.Asp1692Valfs	NC_000017.10:g.41215965_41215968delGCAT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5075A>T (p.Asp1692Val)	672	BRCA1	not provided	397509222	RCV000048776;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215968	41215968	NM_007294.3:c.5075A>T	NP_009225.1:p.Asp1692Val	NC_000017.10:g.41215968T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5075-1G>A	672	BRCA1	Pathogenic	1800747	RCV000048770; RCV000112485;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215969	41215969	NM_007294.3:c.5075-1G>A		NC_000017.10:g.41215969C>A,NC_000017.10:g.41215969C>G,NC_000017.10:g.41215969C>T	Breast Cancer Information Core (BRCA1):5194-1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5075-1G>T	672	BRCA1	not provided	1800747	RCV000048771;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215969	41215969	NM_007294.3:c.5075-1G>T		NC_000017.10:g.41215969C>A,NC_000017.10:g.41215969C>G,NC_000017.10:g.41215969C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5075-2A>C	672	BRCA1	Pathogenic	80358066	RCV000048772; RCV000112487;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215970	41215970	NM_007294.3:c.5075-2A>C		NC_000017.10:g.41215970T>A,NC_000017.10:g.41215970T>G	Breast Cancer Information Core (BRCA1):5194-2&base_change=A to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5075-2A>T	672	BRCA1	Pathogenic	80358066	RCV000048773; RCV000112488;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41215970	41215970	NM_007294.3:c.5075-2A>T		NC_000017.10:g.41215970T>A,NC_000017.10:g.41215970T>G	Breast Cancer Information Core (BRCA1):5194-2&base_change=A to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5075-4G>A	672	BRCA1	not provided	397509220	RCV000048774;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215972	41215972	NM_007294.3:c.5075-4G>A		NC_000017.10:g.41215972C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5075-8T>G	672	BRCA1	not provided	397509221	RCV000048775;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41215976	41215976	NM_007294.3:c.5075-8T>G		NC_000017.10:g.41215976A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5074+284C>A	672	BRCA1	Benign	11654396	RCV000114979; RCV000191289;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219341	41219341	NM_007294.3:c.5074+284C>A		NC_000017.10:g.41219341G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5074+65G>A	672	BRCA1	Benign	8176235	RCV000114978; RCV000191294;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219560	41219560	NM_007294.3:c.5074+65G>A		NC_000017.10:g.41219560C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5074+3A>G	672	BRCA1	Uncertain significance	80358181	RCV000048766; RCV000112483; RCV000168516;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41219622	41219622	NM_007294.3:c.5074+3A>G		NC_000017.10:g.41219622T>C	Breast Cancer Information Core (BRCA1):5193+3&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.5074+1G>A	672	BRCA1	Pathogenic	80358053	RCV000048764; RCV000031210; RCV000131833;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219624	41219624	NM_007294.3:c.5074+1G>A		NC_000017.10:g.41219624C>A,NC_000017.10:g.41219624C>T	Breast Cancer Information Core (BRCA1):5193+1&base_change=G to A,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5074+1G>T	672	BRCA1	Likely pathogenic;Pathogenic	80358053	RCV000048765; RCV000031211;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219624	41219624	NM_007294.3:c.5074+1G>T		NC_000017.10:g.41219624C>A,NC_000017.10:g.41219624C>T	Breast Cancer Information Core (BRCA1):5193+1&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5074G>A (p.Asp1692Asn)	672	BRCA1	Likely pathogenic;Pathogenic	80187739	RCV000048767; RCV000031213; RCV000217586;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41219625	41219625	NM_007294.3:c.5074G>A	NP_009225.1:p.Asp1692Asn	NC_000017.10:g.41219625C>A,NC_000017.10:g.41219625C>G,NC_000017.10:g.41219625C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His)	672	BRCA1	Pathogenic	80187739	RCV000048768; RCV000031214; RCV000220578;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41219625	41219625	NM_007294.3:c.5074G>C	NP_009225.1:p.Asp1692His	NC_000017.10:g.41219625C>A,NC_000017.10:g.41219625C>G,NC_000017.10:g.41219625C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.5074G>T (p.Asp1692Tyr)	672	BRCA1	Pathogenic	80187739	RCV000048769; RCV000112484;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219625	41219625	NM_007294.3:c.5074G>T	NP_009225.1:p.Asp1692Tyr	NC_000017.10:g.41219625C>A,NC_000017.10:g.41219625C>G,NC_000017.10:g.41219625C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4987-?_5074+?del	672	BRCA1	Pathogenic	-1	RCV000074599; RCV000168098;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	17	41219625	41219712	NM_007294.3:c.4987-?_5074+?del			-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.5073A>G (p.Thr1691=)	672	BRCA1	Uncertain significance	80356853	RCV000048763; RCV000112482; RCV000212193;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41219626	41219626	NM_007294.3:c.5073A>G	NP_009225.1:p.Thr1691=	NC_000017.10:g.41219626T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.5072C>A (p.Thr1691Lys)	672	BRCA1	Uncertain significance	80357034	RCV000048760; RCV000031208;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219627	41219627	NM_007294.3:c.5072C>A	NP_009225.1:p.Thr1691Lys	NC_000017.10:g.41219627G>A,NC_000017.10:g.41219627G>C,NC_000017.10:g.41219627G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5072C>T (p.Thr1691Ile)	672	BRCA1	Uncertain significance	80357034	RCV000048762; RCV000031209;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219627	41219627	NM_007294.3:c.5072C>T	NP_009225.1:p.Thr1691Ile	NC_000017.10:g.41219627G>A,NC_000017.10:g.41219627G>C,NC_000017.10:g.41219627G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5072C>G (p.Thr1691Arg)	672	BRCA1	not provided	80357034	RCV000048761;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41219627	41219627	NM_007294.3:c.5072C>G	NP_009225.1:p.Thr1691Arg	NC_000017.10:g.41219627G>A,NC_000017.10:g.41219627G>C,NC_000017.10:g.41219627G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5071A>G (p.Thr1691Ala)	672	BRCA1	not provided	397509219	RCV000048758;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41219628	41219628	NM_007294.3:c.5071A>G	NP_009225.1:p.Thr1691Ala	NC_000017.10:g.41219628T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5071dupA (p.Thr1691Asnfs)	672	BRCA1	Pathogenic	80357672	RCV000048759; RCV000112481;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219628	41219628	NM_007294.3:c.5071dupA	NP_009225.1:p.Thr1691Asnfs	NC_000017.10:g.41219628dupT	Breast Cancer Information Core (BRCA1):5190&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5068A>T (p.Lys1690Ter)	672	BRCA1	Pathogenic	397507239	RCV000048757; RCV000031207;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219631	41219631	NM_007294.3:c.5068A>T	NP_009225.1:p.Lys1690Ter	NC_000017.10:g.41219631T>A,NC_000017.10:g.41219631T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln)	672	BRCA1	Likely benign;Uncertain significance	397507239	RCV000048756; RCV000077592; RCV000130370;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219631	41219631	NM_007294.3:c.5068A>C	NP_009225.1:p.Lys1690Gln	NC_000017.10:g.41219631T>A,NC_000017.10:g.41219631T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5066T>G (p.Met1689Arg)	672	BRCA1	Pathogenic;Uncertain significance	80357061	RCV000048755; RCV000031206; RCV000163023;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219633	41219633	NM_007294.3:c.5066T>G	NP_009225.1:p.Met1689Arg	NC_000017.10:g.41219633A>C,NC_000017.10:g.41219633A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5066T>C (p.Met1689Thr)	672	BRCA1	Uncertain significance	80357061	RCV000048754; RCV000112480;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219633	41219633	NM_007294.3:c.5066T>C	NP_009225.1:p.Met1689Thr	NC_000017.10:g.41219633A>C,NC_000017.10:g.41219633A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5062_5064delGTT (p.Val1688del)	672	BRCA1	Pathogenic;Uncertain significance	80358344	RCV000048753; RCV000112479; RCV000130452;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219635	41219637	NM_007294.3:c.5062_5064delGTT	NP_009225.1:p.Val1688del	NC_000017.10:g.41219635_41219637delAAC	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.5058T>A (p.His1686Gln)	672	BRCA1	not provided	397509218	RCV000048751;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41219641	41219641	NM_007294.3:c.5058T>A	NP_009225.1:p.His1686Gln	NC_000017.10:g.41219641A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5054C>T (p.Thr1685Ile)	672	BRCA1	Pathogenic	80357043	RCV000048750; RCV000112476;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219645	41219645	NM_007294.3:c.5054C>T	NP_009225.1:p.Thr1685Ile	NC_000017.10:g.41219645G>A	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00050	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5053A>G (p.Thr1685Ala)	672	BRCA1	Pathogenic	80356890	RCV000048749; RCV000112475; RCV000212192; RCV000163024;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41219646	41219646	NM_007294.3:c.5053A>G	NP_009225.1:p.Thr1685Ala	NC_000017.10:g.41219646T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00042	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.5047G>T (p.Glu1683Ter)	672	BRCA1	Pathogenic	80356879	RCV000048748; RCV000112473;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219652	41219652	NM_007294.3:c.5047G>T	NP_009225.1:p.Glu1683Ter	NC_000017.10:g.41219652C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5045A>T (p.Glu1682Val)	672	BRCA1	Uncertain significance	80357265	RCV000048747; RCV000112472;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219654	41219654	NM_007294.3:c.5045A>T	NP_009225.1:p.Glu1682Val	NC_000017.10:g.41219654T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5044G>A (p.Glu1682Lys)	672	BRCA1	Benign	80356958	RCV000048746; RCV000112471;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219655	41219655	NM_007294.3:c.5044G>A	NP_009225.1:p.Glu1682Lys	NC_000017.10:g.41219655C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00092	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5040delT (p.Thr1681Leufs)	672	BRCA1	Pathogenic	80357673	RCV000048745; RCV000112470;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219659	41219659	NM_007294.3:c.5040delT	NP_009225.1:p.Thr1681Leufs	NC_000017.10:g.41219659delA	Breast Cancer Information Core (BRCA1):5159&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5035_5039delCTAAT (p.Leu1679Tyrfs)	672	BRCA1	Pathogenic	80357623	RCV000048742; RCV000031205;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219660	41219664	NM_007294.3:c.5035_5039delCTAAT	NP_009225.1:p.Leu1679Tyrfs	NC_000017.10:g.41219660_41219664delATTAG	Breast Cancer Information Core (BRCA1):5154&base_change=del CTAAT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5026_5036delTTAACTAATCT (p.Leu1676Asnfs)	672	BRCA1	Pathogenic	80357894	RCV000048739; RCV000112465;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219663	41219673	NM_007294.3:c.5026_5036delTTAACTAATCT	NP_009225.1:p.Leu1676Asnfs	NC_000017.10:g.41219663_41219673delAGATTAGTTAA	Breast Cancer Information Core (BRCA1):5145&base_change=del TTAACTAATCT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5035delC (p.Leu1679Terfs)	672	BRCA1	Pathogenic	80357896	RCV000048743; RCV000112469;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219664	41219664	NM_007294.3:c.5035delC	NP_009225.1:p.Leu1679Terfs	NC_000017.10:g.41219664delG	Breast Cancer Information Core (BRCA1):5154&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5027dupT (p.Leu1676Phefs)	672	BRCA1	not provided	397509217	RCV000048740;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41219672	41219672	NM_007294.3:c.5027dupT	NP_009225.1:p.Leu1676Phefs	NC_000017.10:g.41219672dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5017_5019delCAC (p.His1673del)	672	BRCA1	Uncertain significance	80358343	RCV000048738; RCV000112464;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219680	41219682	NM_007294.3:c.5017_5019delCAC	NP_009225.1:p.His1673del	NC_000017.10:g.41219680_41219682delGTG	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.5005delG (p.Ala1669Profs)	672	BRCA1	Pathogenic	80357938	RCV000048737; RCV000112462;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219694	41219694	NM_007294.3:c.5005delG	NP_009225.1:p.Ala1669Profs	NC_000017.10:g.41219694delC	Breast Cancer Information Core (BRCA1):5124&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4999A>T (p.Lys1667Ter)	672	BRCA1	Pathogenic	80357204	RCV000048735; RCV000112459;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219700	41219700	NM_007294.3:c.4999A>T	NP_009225.1:p.Lys1667Ter	NC_000017.10:g.41219700T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4997A>G (p.Tyr1666Cys)	672	BRCA1	Uncertain significance	397509216	RCV000048734; RCV000215472;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41219702	41219702	NM_007294.3:c.4997A>G	NP_009225.1:p.Tyr1666Cys	NC_000017.10:g.41219702T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4996T>C (p.Tyr1666His)	672	BRCA1	not provided	397509215	RCV000048733;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41219703	41219703	NM_007294.3:c.4996T>C	NP_009225.1:p.Tyr1666His	NC_000017.10:g.41219703A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4993G>A (p.Val1665Met)	672	BRCA1	Likely benign;Uncertain significance	80357169	RCV000048732; RCV000083214; RCV000129500;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219706	41219706	NM_007294.3:c.4993G>A	NP_009225.1:p.Val1665Met	NC_000017.10:g.41219706C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4991T>C (p.Leu1664Pro)	672	BRCA1	Benign	80357314	RCV000048731; RCV000031202; RCV000221221; RCV000212191;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	41219708	41219708	NM_007294.3:c.4991T>C	NP_009225.1:p.Leu1664Pro	NC_000017.10:g.41219708A>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00131	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4988T>A (p.Met1663Lys)	672	BRCA1	Uncertain significance	80357205	RCV000048730; RCV000112457; RCV000212190;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41219711	41219711	NM_007294.3:c.4988T>A	NP_009225.1:p.Met1663Lys	NC_000017.10:g.41219711A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.4987A>T (p.Met1663Leu)	672	BRCA1	Uncertain significance	80357117	RCV000048729; RCV000112455;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41219712	41219712	NM_007294.3:c.4987A>T	NP_009225.1:p.Met1663Leu	NC_000017.10:g.41219712T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4987-2A>G	672	BRCA1	Pathogenic	397509212	RCV000048726; RCV000212189;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	17	41219714	41219714	NM_007294.3:c.4987-2A>G		NC_000017.10:g.41219714T>C	-	C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007294.3(BRCA1):c.4987-5T>A	672	BRCA1	not provided	397509214	RCV000048728;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41219717	41219717	NM_007294.3:c.4987-5T>A		NC_000017.10:g.41219717A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4987-20A>G	672	BRCA1	Benign	80358035	RCV000123929; RCV000077152; RCV000197931; RCV000175068;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41219732	41219732	NM_007294.3:c.4987-20A>G		NC_000017.10:g.41219732T>C	Breast Cancer Information Core (BRCA1):5106-20&base_change=A to G,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified b	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4986+6T>C	672	BRCA1	Likely pathogenic;Pathogenic	80358086	RCV000159997; RCV000031201; RCV000048724; RCV000131837;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41222939	41222939	NM_007294.3:c.4986+6T>C		NC_000017.10:g.41222939A>C,NC_000017.10:g.41222939A>G	Breast Cancer Information Core (BRCA1):5105+6&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4986+6T>G	672	BRCA1	Likely pathogenic;Pathogenic	80358086	RCV000048725; RCV000077591; RCV000131820;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222939	41222939	NM_007294.3:c.4986+6T>G		NC_000017.10:g.41222939A>C,NC_000017.10:g.41222939A>G	Breast Cancer Information Core (BRCA1):5105+6&base_change=T to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4986+5G>T	672	BRCA1	not provided	397509211	RCV000048723;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41222940	41222940	NM_007294.3:c.4986+5G>T		NC_000017.10:g.41222940C>A,NC_000017.10:g.41222940C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4986+4A>T	672	BRCA1	Pathogenic	80358087	RCV000048722; RCV000077590;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222941	41222941	NM_007294.3:c.4986+4A>T		NC_000017.10:g.41222941T>A,NC_000017.10:g.41222941T>G	Breast Cancer Information Core (BRCA1):5105+4&base_change=A to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4986+2T>C	672	BRCA1	not provided	397509210	RCV000048720;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41222943	41222943	NM_007294.3:c.4986+2T>C		NC_000017.10:g.41222943A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4986+1G>T	672	BRCA1	Pathogenic	80358162	RCV000048719; RCV000031199;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222944	41222944	NM_007294.3:c.4986+1G>T		NC_000017.10:g.41222944C>A,NC_000017.10:g.41222944C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4186-?_4986+?del	672	BRCA1	Pathogenic	-1	RCV000074591;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41222945	41234592	NM_007294.3:c.4186-?_4986+?del			-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4485-?_4986+?del	672	BRCA1	Pathogenic	-1	RCV000074596;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41222945	41226538	NM_007294.3:c.4485-?_4986+?del			-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4985T>C (p.Phe1662Ser)	672	BRCA1	Benign	28897695	RCV000048718; RCV000112441; RCV000130003;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222946	41222946	NM_007294.3:c.4985T>C	NP_009225.1:p.Phe1662Ser	NC_000017.10:g.41222946A>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00091	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4964_4982del19 (p.Ser1655Tyrfs)	672	BRCA1	Likely pathogenic;Pathogenic	80359876	RCV000159927; RCV000031197; RCV000123279; RCV000130587;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41222949	41222967	NM_007294.3:c.4964_4982del19	NP_009225.1:p.Ser1655Tyrfs	NC_000017.10:g.41222949_41222967del19	Breast Cancer Information Core (BRCA1):5083&base_change=del 19	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4981G>T (p.Glu1661Ter)	672	BRCA1	Pathogenic	80357401	RCV000048717; RCV000112440;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222950	41222950	NM_007294.3:c.4981G>T	NP_009225.1:p.Glu1661Ter	NC_000017.10:g.41222950C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4964_4979del16 (p.Ser1655Terfs)	672	BRCA1	not provided	397509209	RCV000048713;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41222952	41222967	NM_007294.3:c.4964_4979del16	NP_009225.1:p.Ser1655Terfs	NC_000017.10:g.41222952_41222967del16	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4967G>A (p.Gly1656Asp)	672	BRCA1	Uncertain significance	80357414	RCV000048716; RCV000112437;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222964	41222964	NM_007294.3:c.4967G>A	NP_009225.1:p.Gly1656Asp	NC_000017.10:g.41222964C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe)	672	BRCA1	Likely pathogenic;Uncertain significance	80357390	RCV000048712; RCV000112436; RCV000223580;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41222967	41222967	NM_007294.3:c.4964C>T	NP_009225.1:p.Ser1655Phe	NC_000017.10:g.41222967G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4957G>A (p.Val1653Met)	672	BRCA1	Uncertain significance	80357261	RCV000048710; RCV000112435;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222974	41222974	NM_007294.3:c.4957G>A	NP_009225.1:p.Val1653Met	NC_000017.10:g.41222974C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4952C>T (p.Ser1651Phe)	672	BRCA1	Uncertain significance	80356938	RCV000048707; RCV000112433;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222979	41222979	NM_007294.3:c.4952C>T	NP_009225.1:p.Ser1651Phe	NC_000017.10:g.41222979G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4945_4947delAGAinsTTTT (p.Arg1649Phefs)	672	BRCA1	not provided	397509207	RCV000048704;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41222984	41222986	NM_007294.3:c.4945_4947delAGAinsTTTT	NP_009225.1:p.Arg1649Phefs	NC_000017.10:g.41222984_41222986delTCTinsAAAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4945delA (p.Arg1649Glufs)	672	BRCA1	Pathogenic	80357761	RCV000048705; RCV000112431;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222986	41222986	NM_007294.3:c.4945delA	NP_009225.1:p.Arg1649Glufs	NC_000017.10:g.41222986delT	Breast Cancer Information Core (BRCA1):5061&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4941C>A (p.Asn1647Lys)	672	BRCA1	Uncertain significance	80357302	RCV000048702; RCV000112429; RCV000212188; RCV000162826;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41222990	41222990	NM_007294.3:c.4941C>A	NP_009225.1:p.Asn1647Lys	NC_000017.10:g.41222990G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4936delG (p.Val1646Serfs)	672	BRCA1	Pathogenic	80357653	RCV000048699; RCV000112428; RCV000130668;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222995	41222995	NM_007294.3:c.4936delG	NP_009225.1:p.Val1646Serfs	NC_000017.10:g.41222995delC	Breast Cancer Information Core (BRCA1):5053&base_change=del G,Breast Cancer Information Core (BRCA1):5055&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4935G>C (p.Arg1645Ser)	672	BRCA1	Uncertain significance	80357373	RCV000048698; RCV000112427; RCV000167324;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222996	41222996	NM_007294.3:c.4935G>C	NP_009225.1:p.Arg1645Ser	NC_000017.10:g.41222996C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4934G>T (p.Arg1645Met)	672	BRCA1	Uncertain significance	70953661	RCV000048697; RCV000112425;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222997	41222997	NM_007294.3:c.4934G>T	NP_009225.1:p.Arg1645Met	NC_000017.10:g.41222997C>A,NC_000017.10:g.41222997C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4933A>G (p.Arg1645Gly)	672	BRCA1	Uncertain significance	80356926	RCV000048696; RCV000112423;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41222998	41222998	NM_007294.3:c.4933A>G	NP_009225.1:p.Arg1645Gly	NC_000017.10:g.41222998T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4931A>G (p.Glu1644Gly)	672	BRCA1	Uncertain significance	80357016	RCV000048695; RCV000112422; RCV000163234;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223000	41223000	NM_007294.3:c.4931A>G	NP_009225.1:p.Glu1644Gly	NC_000017.10:g.41223000T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4930G>T (p.Glu1644Ter)	672	BRCA1	not provided	397509205	RCV000048694;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223001	41223001	NM_007294.3:c.4930G>T	NP_009225.1:p.Glu1644Ter	NC_000017.10:g.41223001C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4921G>A (p.Ala1641Thr)	672	BRCA1	Uncertain significance	1800726	RCV000048693; RCV000112421; RCV000215609;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41223010	41223010	NM_007294.3:c.4921G>A	NP_009225.1:p.Ala1641Thr	NC_000017.10:g.41223010C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4910C>T (p.Pro1637Leu)	672	BRCA1	Benign	80357048	RCV000048691; RCV000077589; RCV000167768; RCV000162989;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41223021	41223021	NM_007294.3:c.4910C>T	NP_009225.1:p.Pro1637Leu	NC_000017.10:g.41223021G>A	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00090	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4910delC (p.Pro1637Glnfs)	672	BRCA1	not provided	397509204	RCV000048692;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223021	41223021	NM_007294.3:c.4910delC	NP_009225.1:p.Pro1637Glnfs	NC_000017.10:g.41223021delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4905_4906delGA (p.Lys1636Alafs)	672	BRCA1	not provided	397509203	RCV000048689;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223025	41223026	NM_007294.3:c.4905_4906delGA	NP_009225.1:p.Lys1636Alafs	NC_000017.10:g.41223025_41223026delTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4903G>T (p.Glu1635Ter)	672	BRCA1	Pathogenic;Uncertain significance	200432771	RCV000048688; RCV000112420; RCV000129569;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223028	41223028	NM_007294.3:c.4903G>T	NP_009225.1:p.Glu1635Ter	NC_000017.10:g.41223028C>A,NC_000017.10:g.41223028C>T	Breast Cancer Information Core (BRCA1):5022&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4893T>C (p.Ser1631=)	672	BRCA1	Uncertain significance	80356850	RCV000048687; RCV000112419;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223038	41223038	NM_007294.3:c.4893T>C	NP_009225.1:p.Ser1631=	NC_000017.10:g.41223038A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4892G>A (p.Ser1631Asn)	672	BRCA1	Uncertain significance	273901742	RCV000048686; RCV000112418;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223039	41223039	NM_007294.3:c.4892G>A	NP_009225.1:p.Ser1631Asn	NC_000017.10:g.41223039C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4873_4885delTATAATGCAATGG (p.Tyr1625Lysfs)	672	BRCA1	not provided	397509201	RCV000048681;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223046	41223058	NM_007294.3:c.4873_4885delTATAATGCAATGG	NP_009225.1:p.Tyr1625Lysfs	NC_000017.10:g.41223046_41223058delCCATTGCATTATA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4884G>T (p.Met1628Ile)	672	BRCA1	Uncertain significance	80357158	RCV000048684; RCV000112416;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223047	41223047	NM_007294.3:c.4884G>T	NP_009225.1:p.Met1628Ile	NC_000017.10:g.41223047C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr)	672	BRCA1	Benign	4986854	RCV000157737; RCV000112415; RCV000048683; RCV000034754; RCV000120263; RCV000162565; RCV000148381;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221572; MedGen:CN221809	17	41223048	41223048	NM_007294.3:c.4883T>C	NP_009225.1:p.Met1628Thr	NC_000017.10:g.41223048A>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00013	CN221572 Breast cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN1
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val)	672	BRCA1	Likely benign;Uncertain significance	80357465	RCV000048682; RCV000112414; RCV000212187; RCV000130592; RCV000148406;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221572	17	41223049	41223049	NM_007294.3:c.4882A>G	NP_009225.1:p.Met1628Val	NC_000017.10:g.41223049T>C	-	CN221572 Breast cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly)	672	BRCA1	Likely pathogenic;Pathogenic;Uncertain significance	80356862	RCV000074598; RCV000031195; RCV000131686;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223063	41223063	NM_007294.3:c.4868C>G	NP_009225.1:p.Ala1623Gly	NC_000017.10:g.41223063G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4838_4839insC (p.Pro1614Serfs)	672	BRCA1	not provided	397509200	RCV000048675;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223092	41223093	NM_007294.3:c.4838_4839insC	NP_009225.1:p.Pro1614Serfs	NC_000017.10:g.41223092_41223093insG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4837A>T (p.Ser1613Cys)	672	BRCA1	Benign;Likely benign;Uncertain significance	1799966	RCV000048673; RCV000031194; RCV000167795; RCV000130704;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41223094	41223094	NM_007294.3:c.4837A>T	NP_009225.1:p.Ser1613Cys	NC_000017.10:g.41223094T>A,NC_000017.10:g.41223094T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly)	672	BRCA1	Benign	1799966	RCV000048672; RCV000112410; RCV000119096; RCV000034753; RCV000120260; RCV000128996;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41223094	41223094	NM_007294.3:c.4837A>G	NP_009225.1:p.Ser1613Gly	NC_000017.10:g.41223094T>A,NC_000017.10:g.41223094T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00012,HGMD:CM1210129	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.4837delA (p.Ser1613Valfs)	672	BRCA1	not provided	397509199	RCV000048674;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223094	41223094	NM_007294.3:c.4837delA	NP_009225.1:p.Ser1613Valfs	NC_000017.10:g.41223094delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4836dupG (p.Ser1613Glufs)	672	BRCA1	not provided	397509198	RCV000048671;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223095	41223095	NM_007294.3:c.4836dupG	NP_009225.1:p.Ser1613Glufs	NC_000017.10:g.41223095dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4833C>T (p.Ala1611=)	672	BRCA1	Uncertain significance	80356842	RCV000048670; RCV000112409;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223098	41223098	NM_007294.3:c.4833C>T	NP_009225.1:p.Ala1611=	NC_000017.10:g.41223098G>A	Breast Cancer Information Core (BRCA1):4952&base_change=C to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4823C>T (p.Ala1608Val)	672	BRCA1	Uncertain significance	80357072	RCV000048669; RCV000112407;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223108	41223108	NM_007294.3:c.4823C>T	NP_009225.1:p.Ala1608Val	NC_000017.10:g.41223108G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4807_4821delCCCCAATTGAAAGTT (p.Pro1603_Val1607del)	672	BRCA1	Uncertain significance	80359888	RCV000048661; RCV000031192; RCV000130473;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223110	41223124	NM_007294.3:c.4807_4821delCCCCAATTGAAAGTT	NP_009225.1:p.Pro1603_Val1607del	NC_000017.10:g.41223110_41223124delAACTTTCAATTGGGG	Breast Cancer Information Core (BRCA1):4917&base_change=del 15	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4813T>G (p.Leu1605Val)	672	BRCA1	Uncertain significance	80356833	RCV000048667; RCV000112406;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223118	41223118	NM_007294.3:c.4813T>G	NP_009225.1:p.Leu1605Val	NC_000017.10:g.41223118A>C,NC_000017.10:g.41223118A>G,NC_000017.10:g.41223118A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4811A>G (p.Gln1604Arg)	672	BRCA1	Uncertain significance	80357439	RCV000048664; RCV000112403;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223120	41223120	NM_007294.3:c.4811A>G	NP_009225.1:p.Gln1604Arg	NC_000017.10:g.41223120T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4810C>T (p.Gln1604Ter)	672	BRCA1	Pathogenic	80357352	RCV000048663; RCV000112402; RCV000215003;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41223121	41223121	NM_007294.3:c.4810C>T	NP_009225.1:p.Gln1604Ter	NC_000017.10:g.41223121G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4801A>T (p.Lys1601Ter)	672	BRCA1	Pathogenic	80357303	RCV000048662; RCV000077587;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223130	41223130	NM_007294.3:c.4801A>T	NP_009225.1:p.Lys1601Ter	NC_000017.10:g.41223130T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4789A>G (p.Thr1597Ala)	672	BRCA1	Uncertain significance	80357187	RCV000048660; RCV000112399;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223142	41223142	NM_007294.3:c.4789A>G	NP_009225.1:p.Thr1597Ala	NC_000017.10:g.41223142T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4787C>T (p.Ser1596Leu)	672	BRCA1	Uncertain significance	80357429	RCV000048659; RCV000112398;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223144	41223144	NM_007294.3:c.4787C>T	NP_009225.1:p.Ser1596Leu	NC_000017.10:g.41223144G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4777A>G (p.Ile1593Val)	672	BRCA1	Uncertain significance	397509197	RCV000048657; RCV000077586; RCV000213829;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41223154	41223154	NM_007294.3:c.4777A>G	NP_009225.1:p.Ile1593Val	NC_000017.10:g.41223154T>A,NC_000017.10:g.41223154T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4777A>T (p.Ile1593Leu)	672	BRCA1	not provided	397509197	RCV000048658;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223154	41223154	NM_007294.3:c.4777A>T	NP_009225.1:p.Ile1593Leu	NC_000017.10:g.41223154T>A,NC_000017.10:g.41223154T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4764delT (p.Arg1589Valfs)	672	BRCA1	not provided	397509196	RCV000048654;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223167	41223167	NM_007294.3:c.4764delT	NP_009225.1:p.Arg1589Valfs	NC_000017.10:g.41223167delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4760C>G (p.Ser1587Ter)	672	BRCA1	not provided	397509195	RCV000048653;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223171	41223171	NM_007294.3:c.4760C>G	NP_009225.1:p.Ser1587Ter	NC_000017.10:g.41223171G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4754_4755delCA (p.Pro1585Argfs)	672	BRCA1	Pathogenic	80357837	RCV000048652; RCV000112394; RCV000219878;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41223176	41223177	NM_007294.3:c.4754_4755delCA	NP_009225.1:p.Pro1585Argfs	NC_000017.10:g.41223176_41223177delTG	Breast Cancer Information Core (BRCA1):4873&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4749_4750delAG (p.Arg1583Serfs)	672	BRCA1	Pathogenic	80357641	RCV000048650; RCV000031190;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223181	41223182	NM_007294.3:c.4749_4750delAG	NP_009225.1:p.Arg1583Serfs	NC_000017.10:g.41223181_41223182delCT	Breast Cancer Information Core (BRCA1):4868&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4750G>T (p.Ala1584Ser)	672	BRCA1	Likely benign;Uncertain significance	80357070	RCV000048651; RCV000083211; RCV000212186; RCV000165039;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41223181	41223181	NM_007294.3:c.4750G>T	NP_009225.1:p.Ala1584Ser	NC_000017.10:g.41223181C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4745delA (p.Asp1582Alafs)	672	BRCA1	Pathogenic	80357907	RCV000048649; RCV000112393;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223186	41223186	NM_007294.3:c.4745delA	NP_009225.1:p.Asp1582Alafs	NC_000017.10:g.41223186delT	Breast Cancer Information Core (BRCA1):4864&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4743A>C (p.Glu1581Asp)	672	BRCA1	not provided	397509194	RCV000048648;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223188	41223188	NM_007294.3:c.4743A>C	NP_009225.1:p.Glu1581Asp	NC_000017.10:g.41223188T>C,NC_000017.10:g.41223188T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4741G>T (p.Glu1581Ter)	672	BRCA1	not provided	397509193	RCV000048647;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223190	41223190	NM_007294.3:c.4741G>T	NP_009225.1:p.Glu1581Ter	NC_000017.10:g.41223190C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4739C>T (p.Ser1580Phe)	672	BRCA1	Uncertain significance	80357411	RCV000048646; RCV000112392; RCV000214535;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41223192	41223192	NM_007294.3:c.4739C>T	NP_009225.1:p.Ser1580Phe	NC_000017.10:g.41223192G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4733A>G (p.Asp1578Gly)	672	BRCA1	Uncertain significance	80356930	RCV000048645; RCV000112391; RCV000130420;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223198	41223198	NM_007294.3:c.4733A>G	NP_009225.1:p.Asp1578Gly	NC_000017.10:g.41223198T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4729T>C (p.Ser1577Pro)	672	BRCA1	Likely benign;Uncertain significance	80356909	RCV000048643; RCV000077585; RCV000212185; RCV000131514;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41223202	41223202	NM_007294.3:c.4729T>C	NP_009225.1:p.Ser1577Pro	NC_000017.10:g.41223202A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4724C>A (p.Pro1575His)	672	BRCA1	Uncertain significance	80357052	RCV000048641; RCV000112389;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223207	41223207	NM_007294.3:c.4724C>A	NP_009225.1:p.Pro1575His	NC_000017.10:g.41223207G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4724delC (p.Pro1575Leufs)	672	BRCA1	not provided	397509191	RCV000048642;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223207	41223207	NM_007294.3:c.4724delC	NP_009225.1:p.Pro1575Leufs	NC_000017.10:g.41223207delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4712_4716delTCTCT (p.Phe1571Terfs)	672	BRCA1	Pathogenic	80357718	RCV000048640; RCV000083210;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223215	41223219	NM_007294.3:c.4712_4716delTCTCT	NP_009225.1:p.Phe1571Terfs	NC_000017.10:g.41223215_41223219delAGAGA	Breast Cancer Information Core (BRCA1):4831&base_change=del TCTCT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4712T>C (p.Phe1571Ser)	672	BRCA1	Uncertain significance	273901740	RCV000048639; RCV000112388;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223219	41223219	NM_007294.3:c.4712T>C	NP_009225.1:p.Phe1571Ser	NC_000017.10:g.41223219A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4702A>G (p.Ile1568Val)	672	BRCA1	Uncertain significance	80357119	RCV000048635; RCV000112387;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223229	41223229	NM_007294.3:c.4702A>G	NP_009225.1:p.Ile1568Val	NC_000017.10:g.41223229T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4695dupA (p.Ser1566Ilefs)	672	BRCA1	not provided	397509189	RCV000048633;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223236	41223236	NM_007294.3:c.4695dupA	NP_009225.1:p.Ser1566Ilefs	NC_000017.10:g.41223236dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4691T>C (p.Leu1564Pro)	672	BRCA1	Benign	56119278	RCV000048632; RCV000112385; RCV000167813; RCV000120262; RCV000162687; RCV000148377;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221572	17	41223240	41223240	NM_007294.3:c.4691T>C	NP_009225.1:p.Leu1564Pro	NC_000017.10:g.41223240A>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00023	CN221572 Breast cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter)	672	BRCA1	Pathogenic;Uncertain significance	80357433	RCV000159994; RCV000031188; RCV000048631; RCV000168510; RCV000131835;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41223242	41223242	NM_007294.3:c.4689C>G	NP_009225.1:p.Tyr1563Ter	NC_000017.10:g.41223242G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4684_4685delCC (p.Pro1562Leufs)	672	BRCA1	not provided	397509188	RCV000048629;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223246	41223247	NM_007294.3:c.4684_4685delCC	NP_009225.1:p.Pro1562Leufs	NC_000017.10:g.41223246_41223247delGG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4685C>T (p.Pro1562Leu)	672	BRCA1	Uncertain significance	80357096	RCV000048630; RCV000112384;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223246	41223246	NM_007294.3:c.4685C>T	NP_009225.1:p.Pro1562Leu	NC_000017.10:g.41223246G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4681delA (p.Thr1561Profs)	672	BRCA1	not provided	397509187	RCV000048627;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41223250	41223250	NM_007294.3:c.4681delA	NP_009225.1:p.Thr1561Profs	NC_000017.10:g.41223250delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4678G>T (p.Gly1560Ter)	672	BRCA1	Pathogenic	80357349	RCV000048626; RCV000077583; RCV000131834;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41223253	41223253	NM_007294.3:c.4678G>T	NP_009225.1:p.Gly1560Ter	NC_000017.10:g.41223253C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4675+1G>A	672	BRCA1	Pathogenic	80358044	RCV000048623; RCV000077582; RCV000131822;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226347	41226347	NM_007294.3:c.4675+1G>A		NC_000017.10:g.41226347C>A,NC_000017.10:g.41226347C>T	Breast Cancer Information Core (BRCA1):4794+1&base_change=G to A,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4675G>A (p.Glu1559Lys)	672	BRCA1	Pathogenic	80356988	RCV000048624; RCV000031185; RCV000131823;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226348	41226348	NM_007294.3:c.4675G>A	NP_009225.1:p.Glu1559Lys	NC_000017.10:g.41226348C>G,NC_000017.10:g.41226348C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4675G>C (p.Glu1559Gln)	672	BRCA1	Likely pathogenic;Pathogenic	80356988	RCV000048625; RCV000031186; RCV000131825;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226348	41226348	NM_007294.3:c.4675G>C	NP_009225.1:p.Glu1559Gln	NC_000017.10:g.41226348C>G,NC_000017.10:g.41226348C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4186-?_4675+?del	672	BRCA1	Pathogenic	-1	RCV000074590;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41226348	41234592	NM_007294.3:c.4186-?_4675+?del			-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4669G>C (p.Asp1557His)	672	BRCA1	Uncertain significance	80356906	RCV000048622; RCV000112376;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226354	41226354	NM_007294.3:c.4669G>C	NP_009225.1:p.Asp1557His	NC_000017.10:g.41226354C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4646_4665del20 (p.Glu1549Alafs)	672	BRCA1	not provided	397509186	RCV000048617;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41226358	41226377	NM_007294.3:c.4646_4665del20	NP_009225.1:p.Glu1549Alafs	NC_000017.10:g.41226358_41226377del20	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4655_4658delACTT (p.Tyr1552Cysfs)	672	BRCA1	Pathogenic	80357561	RCV000074597; RCV000077581; RCV000131826;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226365	41226368	NM_007294.3:c.4655_4658delACTT	NP_009225.1:p.Tyr1552Cysfs	NC_000017.10:g.41226365_41226368delAAGT	Breast Cancer Information Core (BRCA1):4774&base_change=del ACTT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4657T>A (p.Leu1553Met)	672	BRCA1	Uncertain significance	80357431	RCV000048621; RCV000112375; RCV000212184; RCV000164710;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41226366	41226366	NM_007294.3:c.4657T>A	NP_009225.1:p.Leu1553Met	NC_000017.10:g.41226366A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4656C>G (p.Tyr1552Ter)	672	BRCA1	not provided	80357151	RCV000048620; RCV000112374;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226367	41226367	NM_007294.3:c.4656C>G	NP_009225.1:p.Tyr1552Ter	NC_000017.10:g.41226367G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4649C>T (p.Thr1550Ile)	672	BRCA1	Uncertain significance	80357076	RCV000048618; RCV000112373; RCV000195394; RCV000129109;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41226374	41226374	NM_007294.3:c.4649C>T	NP_009225.1:p.Thr1550Ile	NC_000017.10:g.41226374G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4643C>T (p.Thr1548Met)	672	BRCA1	Uncertain significance	273900737	RCV000048616; RCV000112371; RCV000203649; RCV000130001;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41226380	41226380	NM_007294.3:c.4643C>T	NP_009225.1:p.Thr1548Met	NC_000017.10:g.41226380G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4636G>T (p.Asp1546Tyr)	672	BRCA1	Benign	28897691	RCV000048613; RCV000112370; RCV000162987;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226387	41226387	NM_007294.3:c.4636G>T	NP_009225.1:p.Asp1546Tyr	NC_000017.10:g.41226387C>A,NC_000017.10:g.41226387C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00088	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4631C>T (p.Pro1544Leu)	672	BRCA1	Uncertain significance	80356917	RCV000048611; RCV000112368; RCV000132132;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226392	41226392	NM_007294.3:c.4631C>T	NP_009225.1:p.Pro1544Leu	NC_000017.10:g.41226392G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4625_4626delCT (p.Ser1542Trpfs)	672	BRCA1	Pathogenic	80357542	RCV000048610; RCV000112367;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226397	41226398	NM_007294.3:c.4625_4626delCT	NP_009225.1:p.Ser1542Trpfs	NC_000017.10:g.41226397_41226398delAG	Breast Cancer Information Core (BRCA1):4744&base_change=del CT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4625C>G (p.Ser1542Cys)	672	BRCA1	Uncertain significance	41293457	RCV000048609; RCV000112366; RCV000129407;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226398	41226398	NM_007294.3:c.4625C>G	NP_009225.1:p.Ser1542Cys	NC_000017.10:g.41226398G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4621G>T (p.Glu1541Ter)	672	BRCA1	Pathogenic	80357248	RCV000048608; RCV000112365;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226402	41226402	NM_007294.3:c.4621G>T	NP_009225.1:p.Glu1541Ter	NC_000017.10:g.41226402C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4618G>T (p.Glu1540Ter)	672	BRCA1	Pathogenic	80357277	RCV000048607; RCV000077580;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226405	41226405	NM_007294.3:c.4618G>T	NP_009225.1:p.Glu1540Ter	NC_000017.10:g.41226405C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4614_4615delGCinsTT (p.Gln1538His)	672	BRCA1	Uncertain significance	730881464	RCV000159926;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41226408	41226409	NM_007294.3:c.4614_4615delGCinsTT	NP_009225.1:p.Gln1538His	NC_000017.10:g.41226408_41226409delGCinsAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4609C>T (p.Gln1537Ter)	672	BRCA1	Pathogenic	80357229	RCV000048604; RCV000112363;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226414	41226414	NM_007294.3:c.4609C>T	NP_009225.1:p.Gln1537Ter	NC_000017.10:g.41226414G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4603G>T (p.Glu1535Ter)	672	BRCA1	Pathogenic	80357366	RCV000048603; RCV000077578; RCV000162879;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226420	41226420	NM_007294.3:c.4603G>T	NP_009225.1:p.Glu1535Ter	NC_000017.10:g.41226420C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met)	672	BRCA1	Benign	55815649	RCV000048602; RCV000112362; RCV000195319; RCV000120259; RCV000162668;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41226423	41226423	NM_007294.3:c.4600G>A	NP_009225.1:p.Val1534Met	NC_000017.10:g.41226423C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00029,HGMD:CM045533	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4595_4596insCT (p.Asp1533Leufs)	672	BRCA1	Pathogenic	80357699	RCV000048601; RCV000112361;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226427	41226428	NM_007294.3:c.4595_4596insCT	NP_009225.1:p.Asp1533Leufs	NC_000017.10:g.41226427_41226428insAG	Breast Cancer Information Core (BRCA1):4713&base_change=ins TC,Breast Cancer Information Core (BRCA1):4714&base_change=ins CT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4575_4585delAGAGGAGCTCA (p.Gln1525Hisfs)	672	BRCA1	not provided	397509184	RCV000048596;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41226438	41226448	NM_007294.3:c.4575_4585delAGAGGAGCTCA	NP_009225.1:p.Gln1525Hisfs	NC_000017.10:g.41226438_41226448delTGAGCTCCTCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4585A>G (p.Ile1529Val)	672	BRCA1	Likely benign;Uncertain significance	80357095	RCV000048600; RCV000077577; RCV000166323;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226438	41226438	NM_007294.3:c.4585A>G	NP_009225.1:p.Ile1529Val	NC_000017.10:g.41226438T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4579G>A (p.Glu1527Lys)	672	BRCA1	Uncertain significance	80357237	RCV000048597; RCV000112359;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226444	41226444	NM_007294.3:c.4579G>A	NP_009225.1:p.Glu1527Lys	NC_000017.10:g.41226444C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4574_4575delAA (p.Gln1525Argfs)	672	BRCA1	Pathogenic	80357813	RCV000048595; RCV000077576; RCV000216673;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41226448	41226449	NM_007294.3:c.4574_4575delAA	NP_009225.1:p.Gln1525Argfs	NC_000017.10:g.41226448_41226449delTT	Breast Cancer Information Core (BRCA1):4693&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4565A>G (p.Tyr1522Cys)	672	BRCA1	Uncertain significance	80357379	RCV000048594; RCV000112358; RCV000165983;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226458	41226458	NM_007294.3:c.4565A>G	NP_009225.1:p.Tyr1522Cys	NC_000017.10:g.41226458T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4552C>T (p.Gln1518Ter)	672	BRCA1	Pathogenic	80356881	RCV000048592; RCV000112357;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226471	41226471	NM_007294.3:c.4552C>T	NP_009225.1:p.Gln1518Ter	NC_000017.10:g.41226471G>A,NC_000017.10:g.41226471G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile)	672	BRCA1	Benign	1800744	RCV000157736; RCV000112356; RCV000048591; RCV000034752; RCV000120258; RCV000162492;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41226488	41226488	NM_007294.3:c.4535G>T	NP_009225.1:p.Ser1512Ile	NC_000017.10:g.41226488C>A	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00016	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.4534_4535delAG (p.Ser1512Leufs)	672	BRCA1	not provided	397509183	RCV000048590;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41226488	41226489	NM_007294.3:c.4534_4535delAG	NP_009225.1:p.Ser1512Leufs	NC_000017.10:g.41226488_41226489delCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4533_4534delCA (p.His1511Glnfs)	672	BRCA1	Pathogenic	80357534	RCV000048588; RCV000112354;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226489	41226490	NM_007294.3:c.4533_4534delCA	NP_009225.1:p.His1511Glnfs	NC_000017.10:g.41226489_41226490delTG	Breast Cancer Information Core (BRCA1):4652&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4534A>T (p.Ser1512Cys)	672	BRCA1	Uncertain significance	80357137	RCV000048589; RCV000112355; RCV000217284;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41226489	41226489	NM_007294.3:c.4534A>T	NP_009225.1:p.Ser1512Cys	NC_000017.10:g.41226489T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4528delA (p.Met1510Cysfs)	672	BRCA1	not provided	397509182	RCV000048587;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41226495	41226495	NM_007294.3:c.4528delA	NP_009225.1:p.Met1510Cysfs	NC_000017.10:g.41226495delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4516delG (p.Asp1506Ilefs)	672	BRCA1	Pathogenic	273900736	RCV000048584; RCV000112352;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226507	41226507	NM_007294.3:c.4516delG	NP_009225.1:p.Asp1506Ilefs	NC_000017.10:g.41226507delC	Breast Cancer Information Core (BRCA1):4635&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4508C>A (p.Ser1503Ter)	672	BRCA1	Pathogenic	80357437	RCV000048583; RCV000112351; RCV000129157;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226515	41226515	NM_007294.3:c.4508C>A	NP_009225.1:p.Ser1503Ter	NC_000017.10:g.41226515G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4504C>T (p.Pro1502Ser)	672	BRCA1	Uncertain significance	80357383	RCV000048582; RCV000112350; RCV000214845; RCV000212183;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	41226519	41226519	NM_007294.3:c.4504C>T	NP_009225.1:p.Pro1502Ser	NC_000017.10:g.41226519G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4487C>A (p.Ser1496Ter)	672	BRCA1	Pathogenic	80356953	RCV000048579; RCV000112347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226536	41226536	NM_007294.3:c.4487C>A	NP_009225.1:p.Ser1496Ter	NC_000017.10:g.41226536G>C,NC_000017.10:g.41226536G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4487C>G (p.Ser1496Ter)	672	BRCA1	Pathogenic	80356953	RCV000048580; RCV000112348;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226536	41226536	NM_007294.3:c.4487C>G	NP_009225.1:p.Ser1496Ter	NC_000017.10:g.41226536G>C,NC_000017.10:g.41226536G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4485-1G>A	672	BRCA1	Pathogenic	80358189	RCV000048577; RCV000112343;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226539	41226539	NM_007294.3:c.4485-1G>A		NC_000017.10:g.41226539C>T	Breast Cancer Information Core (BRCA1):4604-1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4485-2A>G	672	BRCA1	Likely pathogenic;Pathogenic;Uncertain significance	80358054	RCV000048578; RCV000077574; RCV000131885;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41226540	41226540	NM_007294.3:c.4485-2A>G		NC_000017.10:g.41226540T>C	Breast Cancer Information Core (BRCA1):4604-2&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4484+1G>A	672	BRCA1	Pathogenic	80358063	RCV000048572; RCV000031177;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228504	41228504	NM_007294.3:c.4484+1G>A		NC_000017.10:g.41228504C>T	Breast Cancer Information Core (BRCA1):4603+1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4484+1delG	672	BRCA1	not provided	397509181	RCV000048573;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228504	41228504	NM_007294.3:c.4484+1delG		NC_000017.10:g.41228504delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4484G>A (p.Arg1495Lys)	672	BRCA1	Pathogenic;Uncertain significance	80357389	RCV000048575; RCV000031178; RCV000162878;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228505	41228505	NM_007294.3:c.4484G>A	NP_009225.1:p.Arg1495Lys	NC_000017.10:g.41228505C>A,NC_000017.10:g.41228505C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4484G>T (p.Arg1495Met)	672	BRCA1	Pathogenic	80357389	RCV000159992; RCV000031179; RCV000048576; RCV000131886;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41228505	41228505	NM_007294.3:c.4484G>T	NP_009225.1:p.Arg1495Met	NC_000017.10:g.41228505C>A,NC_000017.10:g.41228505C>T	Breast Cancer Information Core (BRCA1):4603&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.?-232_4484+?del	672	BRCA1	Pathogenic	-1	RCV000074603;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228505	41277500	NM_007294.3:c.?-232_4484+?del			-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4482_4483delAA (p.Arg1495Valfs)	672	BRCA1	Pathogenic	80357854	RCV000048570; RCV000031176;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228506	41228507	NM_007294.3:c.4482_4483delAA	NP_009225.1:p.Arg1495Valfs	NC_000017.10:g.41228506_41228507delTT	Breast Cancer Information Core (BRCA1):4601&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4480G>A (p.Glu1494Lys)	672	BRCA1	Uncertain significance	80357148	RCV000048568; RCV000112337;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228509	41228509	NM_007294.3:c.4480G>A	NP_009225.1:p.Glu1494Lys	NC_000017.10:g.41228509C>A,NC_000017.10:g.41228509C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4480G>T (p.Glu1494Ter)	672	BRCA1	Pathogenic	80357148	RCV000048569; RCV000112338;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228509	41228509	NM_007294.3:c.4480G>T	NP_009225.1:p.Glu1494Ter	NC_000017.10:g.41228509C>A,NC_000017.10:g.41228509C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4471C>G (p.Pro1491Ala)	672	BRCA1	not provided	111034213	RCV000048567;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228518	41228518	NM_007294.3:c.4471C>G	NP_009225.1:p.Pro1491Ala	NC_000017.10:g.41228518G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4460A>G (p.Lys1487Arg)	672	BRCA1	Uncertain significance	80357126	RCV000048566; RCV000083208;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228529	41228529	NM_007294.3:c.4460A>G	NP_009225.1:p.Lys1487Arg	NC_000017.10:g.41228529T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4457delG (p.Ser1486Ilefs)	672	BRCA1	not provided	397509180	RCV000048565;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228532	41228532	NM_007294.3:c.4457delG	NP_009225.1:p.Ser1486Ilefs	NC_000017.10:g.41228532delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4456delA (p.Ser1486Valfs)	672	BRCA1	not provided	397509179	RCV000048564;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228533	41228533	NM_007294.3:c.4456delA	NP_009225.1:p.Ser1486Valfs	NC_000017.10:g.41228533delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4452_4455delTACC (p.Thr1485Valfs)	672	BRCA1	not provided	397509178	RCV000048562;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228534	41228537	NM_007294.3:c.4452_4455delTACC	NP_009225.1:p.Thr1485Valfs	NC_000017.10:g.41228534_41228537delGGTA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4454C>T (p.Thr1485Ile)	672	BRCA1	Uncertain significance	80356870	RCV000048563; RCV000077573; RCV000167166;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228535	41228535	NM_007294.3:c.4454C>T	NP_009225.1:p.Thr1485Ile	NC_000017.10:g.41228535G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4450T>A (p.Ser1484Thr)	672	BRCA1	Uncertain significance	80357404	RCV000048561; RCV000112335; RCV000165863;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228539	41228539	NM_007294.3:c.4450T>A	NP_009225.1:p.Ser1484Thr	NC_000017.10:g.41228539A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4447delA (p.Ser1483Valfs)	672	BRCA1	not provided	397509177	RCV000048560;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228542	41228542	NM_007294.3:c.4447delA	NP_009225.1:p.Ser1483Valfs	NC_000017.10:g.41228542delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4435delG (p.Val1479Cysfs)	672	BRCA1	not provided	397509176	RCV000048559;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228554	41228554	NM_007294.3:c.4435delG	NP_009225.1:p.Val1479Cysfs	NC_000017.10:g.41228554delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4416_4417delTTinsG (p.Ser1473Leufs)	672	BRCA1	not provided	397509174	RCV000048557;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228572	41228573	NM_007294.3:c.4416_4417delTTinsG	NP_009225.1:p.Ser1473Leufs	NC_000017.10:g.41228572_41228573delAAinsC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4410A>T (p.Glu1470Asp)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357075	RCV000074594; RCV000077572; RCV000196174; RCV000174569; RCV000120257; RCV000131557;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41228579	41228579	NM_007294.3:c.4410A>T	NP_009225.1:p.Glu1470Asp	NC_000017.10:g.41228579T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.4405C>T (p.Pro1469Ser)	672	BRCA1	Uncertain significance	80356960	RCV000048554; RCV000112334; RCV000132050;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228584	41228584	NM_007294.3:c.4405C>T	NP_009225.1:p.Pro1469Ser	NC_000017.10:g.41228584G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4391_4403delCTATAAGCCAGAAinsTT (p.Pro1464Leufs)	672	BRCA1	Pathogenic	273900731	RCV000048546; RCV000112331;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228586	41228598	NM_007294.3:c.4391_4403delCTATAAGCCAGAAinsTT	NP_009225.1:p.Pro1464Leufs	NC_000017.10:g.41228586_41228598delTTCTGGCTTATAGinsAA	Breast Cancer Information Core (BRCA1):4510&base_change=del 13 ins TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4399C>T (p.Gln1467Ter)	672	BRCA1	not provided	397509171	RCV000048551;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228590	41228590	NM_007294.3:c.4399C>T	NP_009225.1:p.Gln1467Ter	NC_000017.10:g.41228590G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4393delA (p.Ile1465Terfs)	672	BRCA1	Pathogenic	397507230	RCV000048549; RCV000031171;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228596	41228596	NM_007294.3:c.4393delA	NP_009225.1:p.Ile1465Terfs	NC_000017.10:g.41228596delT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4391delC (p.Pro1464Leufs)	672	BRCA1	Pathogenic	80357916	RCV000048547; RCV000031170;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228598	41228598	NM_007294.3:c.4391delC	NP_009225.1:p.Pro1464Leufs	NC_000017.10:g.41228598delG	Breast Cancer Information Core (BRCA1):4510&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4391dupC (p.Ile1465Tyrfs)	672	BRCA1	not provided	397509169	RCV000048548;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41228598	41228598	NM_007294.3:c.4391dupC	NP_009225.1:p.Ile1465Tyrfs	NC_000017.10:g.41228598dupG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4373_4389del17 (p.Gln1458Profs)	672	BRCA1	Pathogenic	80359885	RCV000048541; RCV000112329;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228600	41228616	NM_007294.3:c.4373_4389del17	NP_009225.1:p.Gln1458Profs	NC_000017.10:g.41228600_41228616del17	Breast Cancer Information Core (BRCA1):4491&base_change=del 17	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4389C>A (p.Tyr1463Ter)	672	BRCA1	Pathogenic	80356997	RCV000048544; RCV000112330; RCV000162877;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228600	41228600	NM_007294.3:c.4389C>A	NP_009225.1:p.Tyr1463Ter	NC_000017.10:g.41228600G>C,NC_000017.10:g.41228600G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4379G>A (p.Ser1460Asn)	672	BRCA1	Uncertain significance	397509167	RCV000048542; RCV000213599; RCV000174570;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	17	41228610	41228610	NM_007294.3:c.4379G>A	NP_009225.1:p.Ser1460Asn	NC_000017.10:g.41228610C>T	-	C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4372C>T (p.Gln1458Ter)	672	BRCA1	Pathogenic	80356932	RCV000048540; RCV000112328; RCV000131884;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228617	41228617	NM_007294.3:c.4372C>T	NP_009225.1:p.Gln1458Ter	NC_000017.10:g.41228617G>A	Breast Cancer Information Core (BRCA1):4491&base_change=C to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4370C>G (p.Ser1457Ter)	672	BRCA1	Pathogenic	80357130	RCV000048539; RCV000112327;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41228619	41228619	NM_007294.3:c.4370C>G	NP_009225.1:p.Ser1457Ter	NC_000017.10:g.41228619G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4357+17A>G	672	BRCA1	Benign;Likely benign;Uncertain significance	80358180	RCV000123919; RCV000112323; RCV000123277; RCV000208968;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41234404	41234404	NM_007294.3:c.4357+17A>G		NC_000017.10:g.41234404T>C	Breast Cancer Information Core (BRCA1):4476+17&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4357+6T>C	672	BRCA1	Uncertain significance	80358143	RCV000048537; RCV000031166;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234415	41234415	NM_007294.3:c.4357+6T>C		NC_000017.10:g.41234415A>C,NC_000017.10:g.41234415A>G	Breast Cancer Information Core (BRCA1):4476+6&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4357+6T>G	672	BRCA1	not provided	80358143	RCV000048538;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234415	41234415	NM_007294.3:c.4357+6T>G		NC_000017.10:g.41234415A>C,NC_000017.10:g.41234415A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4357+2T>C	672	BRCA1	Pathogenic	80358152	RCV000048536; RCV000077571;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234419	41234419	NM_007294.3:c.4357+2T>C		NC_000017.10:g.41234419A>C,NC_000017.10:g.41234419A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4357+1G>A	672	BRCA1	Pathogenic	80358027	RCV000048532; RCV000031165; RCV000167804; RCV000131879;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41234420	41234420	NM_007294.3:c.4357+1G>A		NC_000017.10:g.41234420C>A,NC_000017.10:g.41234420C>G,NC_000017.10:g.41234420C>T	Breast Cancer Information Core (BRCA1):4476+1&base_change=G to A,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4357+1G>C	672	BRCA1	Likely pathogenic;Pathogenic	80358027	RCV000048533; RCV000112324; RCV000215639;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41234420	41234420	NM_007294.3:c.4357+1G>C		NC_000017.10:g.41234420C>A,NC_000017.10:g.41234420C>G,NC_000017.10:g.41234420C>T	Breast Cancer Information Core (BRCA1):4476+1&base_change=G to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4357+1G>T	672	BRCA1	Pathogenic	80358027	RCV000048534; RCV000112325; RCV000222812;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41234420	41234420	NM_007294.3:c.4357+1G>T		NC_000017.10:g.41234420C>A,NC_000017.10:g.41234420C>G,NC_000017.10:g.41234420C>T	Breast Cancer Information Core (BRCA1):4476+1&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4357+1delG	672	BRCA1	not provided	397509165	RCV000048535;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234420	41234420	NM_007294.3:c.4357+1delG		NC_000017.10:g.41234420delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4354A>T (p.Lys1452Ter)	672	BRCA1	Pathogenic	398122685	RCV000159991; RCV000077145;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234424	41234424	NM_007294.3:c.4354A>T	NP_009225.1:p.Lys1452Ter	NC_000017.10:g.41234424T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4347A>G (p.Thr1449=)	672	BRCA1	Benign;Likely benign	80356840	RCV000048531; RCV000112321; RCV000166538;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234431	41234431	NM_007294.3:c.4347A>G	NP_009225.1:p.Thr1449=	NC_000017.10:g.41234431T>C	Breast Cancer Information Core (BRCA1):4466&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4343G>C (p.Ser1448Thr)	672	BRCA1	not provided	80357354	RCV000048530;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234435	41234435	NM_007294.3:c.4343G>C	NP_009225.1:p.Ser1448Thr	NC_000017.10:g.41234435C>G,NC_000017.10:g.41234435C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4339C>T (p.Gln1447Ter)	672	BRCA1	Pathogenic	80357067	RCV000048528; RCV000077570;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234439	41234439	NM_007294.3:c.4339C>T	NP_009225.1:p.Gln1447Ter	NC_000017.10:g.41234439G>A,NC_000017.10:g.41234439G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4331_4338delATCCAGAA (p.Asn1444Thrfs)	672	BRCA1	Pathogenic	80357825	RCV000048526; RCV000112318;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234440	41234447	NM_007294.3:c.4331_4338delATCCAGAA	NP_009225.1:p.Asn1444Thrfs	NC_000017.10:g.41234440_41234447delTTCTGGAT	Breast Cancer Information Core (BRCA1):4450&base_change=del ATCCAGAA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4335_4338dupAGAA (p.Gln1447Argfs)	672	BRCA1	Pathogenic	397509164	RCV000048527; RCV000167492;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234440	41234443	NM_007294.3:c.4335_4338dupAGAA	NP_009225.1:p.Gln1447Argfs		-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4331_4332delAT (p.Asn1444Thrfs)	672	BRCA1	not provided	397509163	RCV000048525;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234446	41234447	NM_007294.3:c.4331_4332delAT	NP_009225.1:p.Asn1444Thrfs	NC_000017.10:g.41234446_41234447delAT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4328G>A (p.Arg1443Gln)	672	BRCA1	Uncertain significance	4986849	RCV000048524; RCV000112317;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234450	41234450	NM_007294.3:c.4328G>A	NP_009225.1:p.Arg1443Gln	NC_000017.10:g.41234450C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4327C>T (p.Arg1443Ter)	672	BRCA1	Pathogenic	41293455	RCV000159989; RCV000019244; RCV000048523; RCV000131880;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41234451	41234451	NM_007294.3:c.4327C>T	NP_009225.1:p.Arg1443Ter	NC_000017.10:g.41234451G>A,NC_000017.10:g.41234451G>C	OMIM Allelic Variant:113705.0016	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4327C>G (p.Arg1443Gly)	672	BRCA1	Likely benign;Pathogenic;Uncertain significance	41293455	RCV000048522; RCV000019245; RCV000129043;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234451	41234451	NM_007294.3:c.4327C>G	NP_009225.1:p.Arg1443Gly	NC_000017.10:g.41234451G>A,NC_000017.10:g.41234451G>C	OMIM Allelic Variant:113705.0017	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4321dupG (p.Asp1441Glyfs)	672	BRCA1	Pathogenic	80357748	RCV000048521; RCV000112315;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234457	41234457	NM_007294.3:c.4321dupG	NP_009225.1:p.Asp1441Glyfs	NC_000017.10:g.41234457dupC	Breast Cancer Information Core (BRCA1):4440&base_change=ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4314C>G (p.Ala1438=)	672	BRCA1	Likely benign;Uncertain significance	80356856	RCV000048519; RCV000112314; RCV000163736;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234464	41234464	NM_007294.3:c.4314C>G	NP_009225.1:p.Ala1438=	NC_000017.10:g.41234464G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4307_4308delCT (p.Ser1436Phefs)	672	BRCA1	not provided	397509161	RCV000048518;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234470	41234471	NM_007294.3:c.4307_4308delCT	NP_009225.1:p.Ser1436Phefs	NC_000017.10:g.41234470_41234471delAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=)	672	BRCA1	Benign	1060915	RCV000114988; RCV000112313; RCV000152866; RCV000128938;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41234470	41234470	NM_007294.3:c.4308T>C	NP_009225.1:p.Ser1436=	NC_000017.10:g.41234470A>G	Breast Cancer Information Core (BRCA1):4427&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4300dupA (p.Ser1434Lysfs)	672	BRCA1	Pathogenic	80357790	RCV000048517; RCV000112312;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234478	41234478	NM_007294.3:c.4300dupA	NP_009225.1:p.Ser1434Lysfs	NC_000017.10:g.41234478dupT	Breast Cancer Information Core (BRCA1):4419&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4294A>C (p.Ile1432Leu)	672	BRCA1	Uncertain significance	80357157	RCV000048515; RCV000112311;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234484	41234484	NM_007294.3:c.4294A>C	NP_009225.1:p.Ile1432Leu	NC_000017.10:g.41234484T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4288C>T (p.Pro1430Ser)	672	BRCA1	Uncertain significance	80357466	RCV000048514; RCV000112308;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234490	41234490	NM_007294.3:c.4288C>T	NP_009225.1:p.Pro1430Ser	NC_000017.10:g.41234490G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4287C>A (p.Tyr1429Ter)	672	BRCA1	not provided	397509160	RCV000048513;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234491	41234491	NM_007294.3:c.4287C>A	NP_009225.1:p.Tyr1429Ter	NC_000017.10:g.41234491G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4282_4283delAG (p.Ser1428Leufs)	672	BRCA1	not provided	397509159	RCV000048512;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234495	41234496	NM_007294.3:c.4282_4283delAG	NP_009225.1:p.Ser1428Leufs	NC_000017.10:g.41234495_41234496delCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4266dupG (p.Ser1423Glufs)	672	BRCA1	not provided	397509158	RCV000048509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234512	41234512	NM_007294.3:c.4266dupG	NP_009225.1:p.Ser1423Glufs	NC_000017.10:g.41234512dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4262A>T (p.His1421Leu)	672	BRCA1	not provided	80357079	RCV000048508;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234516	41234516	NM_007294.3:c.4262A>T	NP_009225.1:p.His1421Leu	NC_000017.10:g.41234516T>A,NC_000017.10:g.41234516T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4261C>T (p.His1421Tyr)	672	BRCA1	Uncertain significance	80357013	RCV000048506; RCV000112306; RCV000174360; RCV000131530;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41234517	41234517	NM_007294.3:c.4261C>T	NP_009225.1:p.His1421Tyr	NC_000017.10:g.41234517G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.4258C>T (p.Gln1420Ter)	672	BRCA1	Pathogenic	80357305	RCV000048504; RCV000077569;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234520	41234520	NM_007294.3:c.4258C>T	NP_009225.1:p.Gln1420Ter	NC_000017.10:g.41234520G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln)	672	BRCA1	Benign	80357309	RCV000048503; RCV000112305; RCV000162984;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234523	41234523	NM_007294.3:c.4255G>C	NP_009225.1:p.Glu1419Gln	NC_000017.10:g.41234523C>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00086	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4253T>G (p.Leu1418Ter)	672	BRCA1	not provided	397509157	RCV000048502;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234525	41234525	NM_007294.3:c.4253T>G	NP_009225.1:p.Leu1418Ter	NC_000017.10:g.41234525A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4251_4252delGT (p.Leu1418Argfs)	672	BRCA1	Pathogenic	80357977	RCV000048501; RCV000031160; RCV000162875;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234526	41234527	NM_007294.3:c.4251_4252delGT	NP_009225.1:p.Leu1418Argfs	NC_000017.10:g.41234526_41234527delAC	Breast Cancer Information Core (BRCA1):4370&base_change=del GT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4245A>G (p.Glu1415=)	672	BRCA1	Likely benign;Uncertain significance	41293453	RCV000048499; RCV000112303; RCV000163656;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234533	41234533	NM_007294.3:c.4245A>G	NP_009225.1:p.Glu1415=	NC_000017.10:g.41234533T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4243delG (p.Glu1415Lysfs)	672	BRCA1	Pathogenic	80357981	RCV000048498; RCV000031159; RCV000217565;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41234535	41234535	NM_007294.3:c.4243delG	NP_009225.1:p.Glu1415Lysfs	NC_000017.10:g.41234535delC	Breast Cancer Information Core (BRCA1):4362&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4242_4243insT (p.Glu1415Terfs)	672	BRCA1	not provided	397509155	RCV000048497;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234535	41234536	NM_007294.3:c.4242_4243insT	NP_009225.1:p.Glu1415Terfs	NC_000017.10:g.41234535_41234536insA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4240dupC (p.Leu1414Profs)	672	BRCA1	not provided	397509154	RCV000048496;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234538	41234538	NM_007294.3:c.4240dupC	NP_009225.1:p.Leu1414Profs	NC_000017.10:g.41234538dupG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4237G>T (p.Glu1413Ter)	672	BRCA1	not provided	397509153	RCV000048495;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234541	41234541	NM_007294.3:c.4237G>T	NP_009225.1:p.Glu1413Ter	NC_000017.10:g.41234541C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4232T>C (p.Met1411Thr)	672	BRCA1	Uncertain significance	273900729	RCV000048494; RCV000112302;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234546	41234546	NM_007294.3:c.4232T>C	NP_009225.1:p.Met1411Thr	NC_000017.10:g.41234546A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4228G>T (p.Glu1410Ter)	672	BRCA1	not provided	397509152	RCV000048493;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234550	41234550	NM_007294.3:c.4228G>T	NP_009225.1:p.Glu1410Ter	NC_000017.10:g.41234550C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4222C>T (p.Gln1408Ter)	672	BRCA1	Pathogenic	80356989	RCV000048492; RCV000077568; RCV000214098; RCV000131888;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41234556	41234556	NM_007294.3:c.4222C>T	NP_009225.1:p.Gln1408Ter	NC_000017.10:g.41234556G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4220T>C (p.Leu1407Pro)	672	BRCA1	Uncertain significance	80357492	RCV000048491; RCV000112300;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234558	41234558	NM_007294.3:c.4220T>C	NP_009225.1:p.Leu1407Pro	NC_000017.10:g.41234558A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4213A>G (p.Ile1405Val)	672	BRCA1	Benign;Uncertain significance	80357353	RCV000048490; RCV000031156;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234565	41234565	NM_007294.3:c.4213A>G	NP_009225.1:p.Ile1405Val	NC_000017.10:g.41234565T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4211T>C (p.Leu1404Pro)	672	BRCA1	Uncertain significance	80356916	RCV000048489; RCV000112297;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234567	41234567	NM_007294.3:c.4211T>C	NP_009225.1:p.Leu1404Pro	NC_000017.10:g.41234567A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4210delC (p.Leu1404Terfs)	672	BRCA1	Pathogenic	80357765	RCV000048488; RCV000112296;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234568	41234568	NM_007294.3:c.4210delC	NP_009225.1:p.Leu1404Terfs	NC_000017.10:g.41234568delG	Breast Cancer Information Core (BRCA1):4329&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4205A>G (p.His1402Arg)	672	BRCA1	Uncertain significance	80356882	RCV000048487; RCV000112295; RCV000222433;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41234573	41234573	NM_007294.3:c.4205A>G	NP_009225.1:p.His1402Arg	NC_000017.10:g.41234573T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4204C>T (p.His1402Tyr)	672	BRCA1	Benign	80357365	RCV000048486; RCV000083205; RCV000162983;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234574	41234574	NM_007294.3:c.4204C>T	NP_009225.1:p.His1402Tyr	NC_000017.10:g.41234574G>A	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00085	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4201C>T (p.Gln1401Ter)	672	BRCA1	Pathogenic	397509151	RCV000048485; RCV000077567;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234577	41234577	NM_007294.3:c.4201C>T	NP_009225.1:p.Gln1401Ter	NC_000017.10:g.41234577G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4199T>C (p.Met1400Thr)	672	BRCA1	Uncertain significance	80357473	RCV000048484; RCV000112294;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234579	41234579	NM_007294.3:c.4199T>C	NP_009225.1:p.Met1400Thr	NC_000017.10:g.41234579A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4198A>G (p.Met1400Val)	672	BRCA1	Uncertain significance	80357306	RCV000048483; RCV000112293;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234580	41234580	NM_007294.3:c.4198A>G	NP_009225.1:p.Met1400Val	NC_000017.10:g.41234580T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4195_4196delAC (p.Thr1399Hisfs)	672	BRCA1	Pathogenic	80357649	RCV000048482; RCV000112292;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234582	41234583	NM_007294.3:c.4195_4196delAC	NP_009225.1:p.Thr1399Hisfs	NC_000017.10:g.41234582_41234583delGT	Breast Cancer Information Core (BRCA1):4314&base_change=del AC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4187_4189delAGA (p.Gln1396del)	672	BRCA1	Uncertain significance	730881463	RCV000159925;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234589	41234591	NM_007294.3:c.4187_4189delAGA	NP_009225.1:p.Gln1396del	NC_000017.10:g.41234589_41234591delTCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4186C>T (p.Gln1396Ter)	672	BRCA1	Pathogenic	80357011	RCV000048481; RCV000112291;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41234592	41234592	NM_007294.3:c.4186C>T	NP_009225.1:p.Gln1396Ter	NC_000017.10:g.41234592G>A,NC_000017.10:g.41234592G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4186C>A (p.Gln1396Lys)	672	BRCA1	Uncertain significance	80357011	RCV000159988;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234592	41234592	NM_007294.3:c.4186C>A	NP_009225.1:p.Gln1396Lys	NC_000017.10:g.41234592G>A,NC_000017.10:g.41234592G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4186-1G>A	672	BRCA1	not provided	397509150	RCV000048480;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41234593	41234593	NM_007294.3:c.4186-1G>A		NC_000017.10:g.41234593C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4186-10G>A	672	BRCA1	Uncertain significance	80358172	RCV000048479; RCV000112287; RCV000212182;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41234602	41234602	NM_007294.3:c.4186-10G>A		NC_000017.10:g.41234602C>T	Breast Cancer Information Core (BRCA1):4305-10&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.4185+2_4185+22del21insA	672	BRCA1	Pathogenic	273900724	RCV000048475; RCV000031155; RCV000215384;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41242939	41242959	NM_007294.3:c.4185+2_4185+22del21insA		NC_000017.10:g.41242939_41242959del21insT	Breast Cancer Information Core (BRCA1):4304+2&base_change=del 21 ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4185+3A>G	672	BRCA1	Uncertain significance	397509148	RCV000048476; RCV000212180;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	41242958	41242958	NM_007294.3:c.4185+3A>G		NC_000017.10:g.41242958T>C	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.4185_4185+3delGGTA	672	BRCA1	not provided	397509149	RCV000048478;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41242958	41242961	NM_007294.3:c.4185_4185+3delGGTA		NC_000017.10:g.41242958_41242961delTACC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4185+1G>T	672	BRCA1	Pathogenic	80358076	RCV000048474; RCV000077566;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41242960	41242960	NM_007294.3:c.4185+1G>T		NC_000017.10:g.41242960C>A,NC_000017.10:g.41242960C>T	Breast Cancer Information Core (BRCA1):4304+1&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4183_4185delCAG (p.Gln1396del)	672	BRCA1	not provided	397509147	RCV000048472;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41242961	41242963	NM_007294.3:c.4183_4185delCAG	NP_009225.1:p.Gln1396del	NC_000017.10:g.41242961_41242963delCTG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4185G>A (p.Gln1395=)	672	BRCA1	Pathogenic	80356857	RCV000048477; RCV000112286;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41242961	41242961	NM_007294.3:c.4185G>A	NP_009225.1:p.Gln1395=	NC_000017.10:g.41242961C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4184A>G (p.Gln1395Arg)	672	BRCA1	Likely benign;Uncertain significance	80356972	RCV000048473; RCV000077565;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41242962	41242962	NM_007294.3:c.4184A>G	NP_009225.1:p.Gln1395Arg	NC_000017.10:g.41242962T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4182_4183dupTC (p.Gln1395Leufs)	672	BRCA1	Pathogenic	80357742	RCV000048470; RCV000143835; RCV000221513;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41242963	41242964	NM_007294.3:c.4182_4183dupTC	NP_009225.1:p.Gln1395Leufs	NC_000017.10:g.41242963_41242964dupGA	Breast Cancer Information Core (BRCA1):4302&base_change=ins TC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter)	672	BRCA1	Likely pathogenic;Pathogenic	80357260	RCV000048471; RCV000077564; RCV000212181; RCV000162874;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41242963	41242963	NM_007294.3:c.4183C>T	NP_009225.1:p.Gln1395Ter	NC_000017.10:g.41242963G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.4172T>C (p.Ile1391Thr)	672	BRCA1	not provided	397509146	RCV000048469;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41242974	41242974	NM_007294.3:c.4172T>C	NP_009225.1:p.Ile1391Thr	NC_000017.10:g.41242974A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4167_4170delTGAC (p.Ser1389Argfs)	672	BRCA1	Pathogenic	80357538	RCV000048467; RCV000112275;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41242976	41242979	NM_007294.3:c.4167_4170delTGAC	NP_009225.1:p.Ser1389Argfs	NC_000017.10:g.41242976_41242979delGTCA	Breast Cancer Information Core (BRCA1):4286&base_change=del TGAC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4167_4168delTG (p.Ser1389Argfs)	672	BRCA1	not provided	397509144	RCV000048466;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41242978	41242979	NM_007294.3:c.4167_4168delTG	NP_009225.1:p.Ser1389Argfs	NC_000017.10:g.41242978_41242979delCA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4167delT (p.Ser1389Argfs)	672	BRCA1	not provided	397509145	RCV000048468;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41242979	41242979	NM_007294.3:c.4167delT	NP_009225.1:p.Ser1389Argfs	NC_000017.10:g.41242979delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4163_4166delAGAG (p.Gln1388Leufs)	672	BRCA1	Pathogenic	80357532	RCV000048462; RCV000112273;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41242980	41242983	NM_007294.3:c.4163_4166delAGAG	NP_009225.1:p.Gln1388Leufs	NC_000017.10:g.41242980_41242983delCTCT	Breast Cancer Information Core (BRCA1):4282&base_change=del AGAG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4165_4166dupAG (p.Ser1389Argfs)	672	BRCA1	not provided	397509143	RCV000048464;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41242980	41242981	NM_007294.3:c.4165_4166dupAG	NP_009225.1:p.Ser1389Argfs	NC_000017.10:g.41242980_41242981dupCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4166G>A (p.Ser1389Asn)	672	BRCA1	Likely benign;Uncertain significance	78951648	RCV000048465; RCV000077563; RCV000218513;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41242980	41242980	NM_007294.3:c.4166G>A	NP_009225.1:p.Ser1389Asn	NC_000017.10:g.41242980C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4158_4162delCTCTC (p.Ser1387Glufs)	672	BRCA1	not provided	397509142	RCV000048459;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41242984	41242988	NM_007294.3:c.4158_4162delCTCTC	NP_009225.1:p.Ser1387Glufs	NC_000017.10:g.41242984_41242988delGAGAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4161_4162delTC (p.Gln1388Glufs)	672	BRCA1	Pathogenic	80357565	RCV000048461; RCV000112271; RCV000162873;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41242984	41242985	NM_007294.3:c.4161_4162delTC	NP_009225.1:p.Gln1388Glufs	NC_000017.10:g.41242984_41242985delGA	Breast Cancer Information Core (BRCA1):4280&base_change=del TC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4148C>G (p.Ser1383Ter)	672	BRCA1	Pathogenic	80357071	RCV000048458; RCV000112270; RCV000213696;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41242998	41242998	NM_007294.3:c.4148C>G	NP_009225.1:p.Ser1383Ter	NC_000017.10:g.41242998G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.4136_4137delCT (p.Ser1379Terfs)	672	BRCA1	not provided	397509141	RCV000048457;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243009	41243010	NM_007294.3:c.4136_4137delCT	NP_009225.1:p.Ser1379Terfs	NC_000017.10:g.41243009_41243010delAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile)	672	BRCA1	Likely benign;Uncertain significance	28897690	RCV000048456; RCV000112269; RCV000195345; RCV000130952;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243014	41243014	NM_007294.3:c.4132G>A	NP_009225.1:p.Val1378Ile	NC_000017.10:g.41243014C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4131C>A (p.Ser1377Arg)	672	BRCA1	Uncertain significance	80356871	RCV000048455; RCV000112268;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243015	41243015	NM_007294.3:c.4131C>A	NP_009225.1:p.Ser1377Arg	NC_000017.10:g.41243015G>A,NC_000017.10:g.41243015G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4122_4123delTG (p.Ser1374Argfs)	672	BRCA1	Pathogenic	80357691	RCV000048451; RCV000112265;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243023	41243024	NM_007294.3:c.4122_4123delTG	NP_009225.1:p.Ser1374Argfs	NC_000017.10:g.41243023_41243024delCA	Breast Cancer Information Core (BRCA1):4241&base_change=del TG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4123G>T (p.Glu1375Ter)	672	BRCA1	Pathogenic	80357397	RCV000048452; RCV000112266;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243023	41243023	NM_007294.3:c.4123G>T	NP_009225.1:p.Glu1375Ter	NC_000017.10:g.41243023C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4120_4121delAG (p.Ser1374Terfs)	672	BRCA1	Pathogenic	80357787	RCV000048450; RCV000031151; RCV000131891;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243025	41243026	NM_007294.3:c.4120_4121delAG	NP_009225.1:p.Ser1374Terfs	NC_000017.10:g.41243025_41243026delCT	Breast Cancer Information Core (BRCA1):4239&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4116_4117delTG (p.Cys1372Terfs)	672	BRCA1	Pathogenic	80357804	RCV000048448; RCV000112264;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243029	41243030	NM_007294.3:c.4116_4117delTG	NP_009225.1:p.Cys1372Terfs	NC_000017.10:g.41243029_41243030delCA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4116T>A (p.Cys1372Ter)	672	BRCA1	not provided	397509140	RCV000048447;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243030	41243030	NM_007294.3:c.4116T>A	NP_009225.1:p.Cys1372Ter	NC_000017.10:g.41243030A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4115G>A (p.Cys1372Tyr)	672	BRCA1	Uncertain significance	55848034	RCV000048446; RCV000112263; RCV000195393; RCV000132315;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243031	41243031	NM_007294.3:c.4115G>A	NP_009225.1:p.Cys1372Tyr	NC_000017.10:g.41243031C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4107_4110dupATCT (p.Gly1371Ilefs)	672	BRCA1	not provided	397509139	RCV000048445;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243036	41243039	NM_007294.3:c.4107_4110dupATCT	NP_009225.1:p.Gly1371Ilefs	NC_000017.10:g.41243036_41243039dupAGAT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4097-1G>A	672	BRCA1	Pathogenic	80358070	RCV000048443; RCV000031148;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243050	41243050	NM_007294.3:c.4097-1G>A		NC_000017.10:g.41243050C>T	Breast Cancer Information Core (BRCA1):4216-1&base_change=G to A,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4097-2A>G	672	BRCA1	Pathogenic	80358019	RCV000048444; RCV000112256;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243051	41243051	NM_007294.3:c.4097-2A>G		NC_000017.10:g.41243051T>C,NC_000017.10:g.41243051T>G	Breast Cancer Information Core (BRCA1):4216-2&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4097-141A>C	672	BRCA1	Benign	799916	RCV000114977; RCV000112254;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243190	41243190	NM_007294.3:c.4097-141A>C		NC_000017.10:g.41243190T>G	Breast Cancer Information Core (BRCA1):4216-141&base_change=A to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4096+1G>A	672	BRCA1	Likely pathogenic;Pathogenic	80358178	RCV000048441; RCV000031146; RCV000195364; RCV000162871;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243451	41243451	NM_007294.3:c.4096+1G>A		NC_000017.10:g.41243451C>T	Breast Cancer Information Core (BRCA1):4215+1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4094delT (p.Leu1365Terfs)	672	BRCA1	not provided	397509138	RCV000048440;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243454	41243454	NM_007294.3:c.4094delT	NP_009225.1:p.Leu1365Terfs	NC_000017.10:g.41243454delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4092_4093delCT (p.Leu1365Argfs)	672	BRCA1	not provided	397509137	RCV000048439;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243455	41243456	NM_007294.3:c.4092_4093delCT	NP_009225.1:p.Leu1365Argfs	NC_000017.10:g.41243455_41243456delAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4085delA (p.Asp1362Valfs)	672	BRCA1	Pathogenic	80357737	RCV000048438; RCV000112245;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243463	41243463	NM_007294.3:c.4085delA	NP_009225.1:p.Asp1362Valfs	NC_000017.10:g.41243463delT	Breast Cancer Information Core (BRCA1):4204&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4081A>C (p.Met1361Leu)	672	BRCA1	Benign	80357218	RCV000048437; RCV000112244; RCV000162982;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243467	41243467	NM_007294.3:c.4081A>C	NP_009225.1:p.Met1361Leu	NC_000017.10:g.41243467T>C,NC_000017.10:g.41243467T>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00084	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4075C>T (p.Gln1359Ter)	672	BRCA1	Pathogenic	80357456	RCV000048436; RCV000112239;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243473	41243473	NM_007294.3:c.4075C>T	NP_009225.1:p.Gln1359Ter	NC_000017.10:g.41243473G>A,NC_000017.10:g.41243473G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4074G>A (p.Glu1358=)	672	BRCA1	Benign	80356846	RCV000048435; RCV000112238;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243474	41243474	NM_007294.3:c.4074G>A	NP_009225.1:p.Glu1358=	NC_000017.10:g.41243474C>T	Breast Cancer Information Core (BRCA1):4193&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4072G>A (p.Glu1358Lys)	672	BRCA1	not provided	397509136	RCV000048434;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243476	41243476	NM_007294.3:c.4072G>A	NP_009225.1:p.Glu1358Lys	NC_000017.10:g.41243476C>A,NC_000017.10:g.41243476C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4066_4069delCAAG (p.Gln1356Lysfs)	672	BRCA1	not provided	397509135	RCV000048432;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243479	41243482	NM_007294.3:c.4066_4069delCAAG	NP_009225.1:p.Gln1356Lysfs	NC_000017.10:g.41243479_41243482delCTTG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs)	672	BRCA1	Likely pathogenic;Pathogenic	80357508	RCV000159924; RCV000019243; RCV000048431; RCV000131887;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243480	41243483	NM_007294.3:c.4065_4068delTCAA	NP_009225.1:p.Asn1355Lysfs	NC_000017.10:g.41243480_41243483delTTGA	Breast Cancer Information Core (BRCA1):4184&base_change=del TCAA,OMIM Allelic Variant:113705.0015	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4062_4068delTAATCAA (p.Asn1354Lysfs)	672	BRCA1	not provided	397509134	RCV000048429;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243480	41243486	NM_007294.3:c.4062_4068delTAATCAA	NP_009225.1:p.Asn1354Lysfs	NC_000017.10:g.41243480_41243486delTTGATTA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4063_4065delAAT (p.Asn1355del)	672	BRCA1	Uncertain significance	80358341	RCV000048430; RCV000112237; RCV000168505; RCV000132449;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41243483	41243485	NM_007294.3:c.4063_4065delAAT	NP_009225.1:p.Asn1355del	NC_000017.10:g.41243483_41243485delATT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.4057_4061delGAAAA (p.Glu1353Terfs)	672	BRCA1	not provided	397509133	RCV000048428;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243487	41243491	NM_007294.3:c.4057_4061delGAAAA	NP_009225.1:p.Glu1353Terfs	NC_000017.10:g.41243487_41243491delTTTTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4057G>T (p.Glu1353Ter)	672	BRCA1	Pathogenic	80357178	RCV000048427; RCV000112236;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243491	41243491	NM_007294.3:c.4057G>T	NP_009225.1:p.Glu1353Ter	NC_000017.10:g.41243491C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4054G>A (p.Glu1352Lys)	672	BRCA1	Uncertain significance	80357202	RCV000048426; RCV000112235; RCV000132305;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243494	41243494	NM_007294.3:c.4054G>A	NP_009225.1:p.Glu1352Lys	NC_000017.10:g.41243494C>A,NC_000017.10:g.41243494C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4052T>A (p.Leu1351Ter)	672	BRCA1	Pathogenic	397509132	RCV000048424; RCV000083204;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243496	41243496	NM_007294.3:c.4052T>A	NP_009225.1:p.Leu1351Ter	NC_000017.10:g.41243496A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4052dupT (p.Leu1351Phefs)	672	BRCA1	Pathogenic	80357779	RCV000048425; RCV000112234;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243496	41243496	NM_007294.3:c.4052dupT	NP_009225.1:p.Leu1351Phefs	NC_000017.10:g.41243496dupA	Breast Cancer Information Core (BRCA1):4171&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4049dupG (p.Glu1352Glyfs)	672	BRCA1	not provided	397509131	RCV000048423;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243499	41243499	NM_007294.3:c.4049dupG	NP_009225.1:p.Glu1352Glyfs	NC_000017.10:g.41243499dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4046C>T (p.Thr1349Met)	672	BRCA1	Benign	80357345	RCV000048422; RCV000077561; RCV000195392; RCV000162981;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243502	41243502	NM_007294.3:c.4046C>T	NP_009225.1:p.Thr1349Met	NC_000017.10:g.41243502G>A	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00083	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4045A>C (p.Thr1349Pro)	672	BRCA1	Uncertain significance	80357231	RCV000048421; RCV000112232;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243503	41243503	NM_007294.3:c.4045A>C	NP_009225.1:p.Thr1349Pro	NC_000017.10:g.41243503T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4043delG (p.Gly1348Glufs)	672	BRCA1	not provided	397509130	RCV000048420;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243505	41243505	NM_007294.3:c.4043delG	NP_009225.1:p.Gly1348Glufs	NC_000017.10:g.41243505delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4041_4042delAG (p.Gly1348Asnfs)	672	BRCA1	Pathogenic	80357727	RCV000074588; RCV000077560; RCV000131889;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243506	41243507	NM_007294.3:c.4041_4042delAG	NP_009225.1:p.Gly1348Asnfs	NC_000017.10:g.41243506_41243507delCT	Breast Cancer Information Core (BRCA1):4160&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4040G>A (p.Arg1347Lys)	672	BRCA1	Uncertain significance	80357210	RCV000048418; RCV000112231;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243508	41243508	NM_007294.3:c.4040G>A	NP_009225.1:p.Arg1347Lys	NC_000017.10:g.41243508C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4036_4038delGAA (p.Glu1346del)	672	BRCA1	Uncertain significance	80358340	RCV000048415; RCV000112228;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243510	41243512	NM_007294.3:c.4036_4038delGAA	NP_009225.1:p.Glu1346del	NC_000017.10:g.41243510_41243512delTTC	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4037_4038delAA (p.Gly1348Asnfs)	672	BRCA1	Pathogenic	273900721	RCV000048416; RCV000112229;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243510	41243511	NM_007294.3:c.4037_4038delAA	NP_009225.1:p.Gly1348Asnfs	NC_000017.10:g.41243510_41243511delTT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4035delA (p.Glu1346Lysfs)	672	BRCA1	Pathogenic	80357711	RCV000074587; RCV000031141; RCV000048413; RCV000130638;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243513	41243513	NM_007294.3:c.4035delA	NP_009225.1:p.Glu1346Lysfs	NC_000017.10:g.41243513delT	Breast Cancer Information Core (BRCA1):4154&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4032_4034delTGA (p.Asp1344del)	672	BRCA1	not provided	397509129	RCV000048412;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243514	41243516	NM_007294.3:c.4032_4034delTGA	NP_009225.1:p.Asp1344del	NC_000017.10:g.41243514_41243516delTCA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4031A>G (p.Asp1344Gly)	672	BRCA1	Uncertain significance	55639854	RCV000048411; RCV000112227; RCV000132350;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243517	41243517	NM_007294.3:c.4031A>G	NP_009225.1:p.Asp1344Gly	NC_000017.10:g.41243517T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4026A>G (p.Ser1342=)	672	BRCA1	Uncertain significance	80356828	RCV000048410; RCV000112226;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243522	41243522	NM_007294.3:c.4026A>G	NP_009225.1:p.Ser1342=	NC_000017.10:g.41243522T>C	Breast Cancer Information Core (BRCA1):4145&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4015G>T (p.Glu1339Ter)	672	BRCA1	Pathogenic	80357021	RCV000048409; RCV000031140; RCV000162870;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243533	41243533	NM_007294.3:c.4015G>T	NP_009225.1:p.Glu1339Ter	NC_000017.10:g.41243533C>A,NC_000017.10:g.41243533C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.4011C>G (p.Asp1337Glu)	672	BRCA1	Uncertain significance	80356886	RCV000048408; RCV000112225;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243537	41243537	NM_007294.3:c.4011C>G	NP_009225.1:p.Asp1337Glu	NC_000017.10:g.41243537G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4002_4005delTCTG (p.Leu1335Valfs)	672	BRCA1	not provided	397509128	RCV000048407;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243543	41243546	NM_007294.3:c.4002_4005delTCTG	NP_009225.1:p.Leu1335Valfs	NC_000017.10:g.41243543_41243546delCAGA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.4001delG (p.Gly1334Valfs)	672	BRCA1	not provided	397509127	RCV000048406;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243547	41243547	NM_007294.3:c.4001delG	NP_009225.1:p.Gly1334Valfs	NC_000017.10:g.41243547delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3999delT (p.Gly1334Valfs)	672	BRCA1	not provided	397509125	RCV000048403;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243549	41243549	NM_007294.3:c.3999delT	NP_009225.1:p.Gly1334Valfs	NC_000017.10:g.41243549delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3991C>T (p.Gln1331Ter)	672	BRCA1	Pathogenic	397507224	RCV000048402; RCV000031139;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243557	41243557	NM_007294.3:c.3991C>T	NP_009225.1:p.Gln1331Ter	NC_000017.10:g.41243557G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3982dupT (p.Ser1328Phefs)	672	BRCA1	not provided	397509124	RCV000048400;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243566	41243566	NM_007294.3:c.3982dupT	NP_009225.1:p.Ser1328Phefs	NC_000017.10:g.41243566dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3981delG (p.Gln1327Hisfs)	672	BRCA1	not provided	397509123	RCV000048399;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243567	41243567	NM_007294.3:c.3981delG	NP_009225.1:p.Gln1327Hisfs	NC_000017.10:g.41243567delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3980A>G (p.Gln1327Arg)	672	BRCA1	Uncertain significance	730881444	RCV000159850;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243568	41243568	NM_007294.3:c.3980A>G	NP_009225.1:p.Gln1327Arg	NC_000017.10:g.41243568T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3973delA (p.Arg1325Glyfs)	672	BRCA1	Pathogenic	80357904	RCV000048397; RCV000112222;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243575	41243575	NM_007294.3:c.3973delA	NP_009225.1:p.Arg1325Glyfs	NC_000017.10:g.41243575delT	Breast Cancer Information Core (BRCA1):4092&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3972delG (p.Met1324Ilefs)	672	BRCA1	Pathogenic	80357987	RCV000048396; RCV000112221;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243576	41243576	NM_007294.3:c.3972delG	NP_009225.1:p.Met1324Ilefs	NC_000017.10:g.41243576delC	Breast Cancer Information Core (BRCA1):4091&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3967C>T (p.Gln1323Ter)	672	BRCA1	Pathogenic	80357262	RCV000048393; RCV000083202;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243581	41243581	NM_007294.3:c.3967C>T	NP_009225.1:p.Gln1323Ter	NC_000017.10:g.41243581G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3967delC (p.Gln1323Lysfs)	672	BRCA1	Pathogenic	397509122	RCV000048394; RCV000220986;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243581	41243581	NM_007294.3:c.3967delC	NP_009225.1:p.Gln1323Lysfs	NC_000017.10:g.41243581delG	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3966delA (p.Lys1322Asnfs)	672	BRCA1	Pathogenic	80357979	RCV000048392; RCV000112220;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243582	41243582	NM_007294.3:c.3966delA	NP_009225.1:p.Lys1322Asnfs	NC_000017.10:g.41243582delT	Breast Cancer Information Core (BRCA1):4085&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3965A>T (p.Lys1322Ile)	672	BRCA1	Uncertain significance	80357042	RCV000048391; RCV000112219;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243583	41243583	NM_007294.3:c.3965A>T	NP_009225.1:p.Lys1322Ile	NC_000017.10:g.41243583T>A,NC_000017.10:g.41243583T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3964A>T (p.Lys1322Ter)	672	BRCA1	Pathogenic	80357343	RCV000048390; RCV000112218;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243584	41243584	NM_007294.3:c.3964A>T	NP_009225.1:p.Lys1322Ter	NC_000017.10:g.41243584T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3952A>G (p.Ile1318Val)	672	BRCA1	not provided	397509121	RCV000048389;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243596	41243596	NM_007294.3:c.3952A>G	NP_009225.1:p.Ile1318Val	NC_000017.10:g.41243596T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3944C>A (p.Pro1315His)	672	BRCA1	Uncertain significance	80357500	RCV000048388; RCV000112215;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243604	41243604	NM_007294.3:c.3944C>A	NP_009225.1:p.Pro1315His	NC_000017.10:g.41243604G>C,NC_000017.10:g.41243604G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3940G>A (p.Asp1314Asn)	672	BRCA1	Uncertain significance	80356954	RCV000048387; RCV000112213;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243608	41243608	NM_007294.3:c.3940G>A	NP_009225.1:p.Asp1314Asn	NC_000017.10:g.41243608C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3937C>T (p.Gln1313Ter)	672	BRCA1	Pathogenic	80357318	RCV000048386; RCV000031137; RCV000131882;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243611	41243611	NM_007294.3:c.3937C>T	NP_009225.1:p.Gln1313Ter	NC_000017.10:g.41243611G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3931_3934delAACA (p.Asn1311Profs)	672	BRCA1	Pathogenic	80357864	RCV000048384; RCV000112211;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243614	41243617	NM_007294.3:c.3931_3934delAACA	NP_009225.1:p.Asn1311Profs	NC_000017.10:g.41243614_41243617delTGTT	Breast Cancer Information Core (BRCA1):4050&base_change=del AACA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3932delA (p.Asn1311Thrfs)	672	BRCA1	Pathogenic	80357504	RCV000048385; RCV000112212;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243616	41243616	NM_007294.3:c.3932delA	NP_009225.1:p.Asn1311Thrfs	NC_000017.10:g.41243616delT	Breast Cancer Information Core (BRCA1):4051&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3927_3930delTACA (p.Asn1309Lysfs)	672	BRCA1	not provided	397509120	RCV000048382;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243618	41243621	NM_007294.3:c.3927_3930delTACA	NP_009225.1:p.Asn1309Lysfs	NC_000017.10:g.41243618_41243621delTGTA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3929C>A (p.Thr1310Lys)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357257	RCV000048383; RCV000083201; RCV000212179;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41243619	41243619	NM_007294.3:c.3929C>A	NP_009225.1:p.Thr1310Lys	NC_000017.10:g.41243619G>C,NC_000017.10:g.41243619G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.3926delA (p.Asn1309Ilefs)	672	BRCA1	not provided	397509119	RCV000048381;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243622	41243622	NM_007294.3:c.3926delA	NP_009225.1:p.Asn1309Ilefs	NC_000017.10:g.41243622delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3916_3917delTT (p.Leu1306Aspfs)	672	BRCA1	Pathogenic	80357678	RCV000048379; RCV000083200;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243631	41243632	NM_007294.3:c.3916_3917delTT	NP_009225.1:p.Leu1306Aspfs	NC_000017.10:g.41243631_41243632delAA	Breast Cancer Information Core (BRCA1):4035&base_change=del TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3914delA (p.Asp1305Alafs)	672	BRCA1	not provided	397509118	RCV000048378;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243634	41243634	NM_007294.3:c.3914delA	NP_009225.1:p.Asp1305Alafs	NC_000017.10:g.41243634delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3910delG (p.Glu1304Lysfs)	672	BRCA1	not provided	397509117	RCV000048377;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243638	41243638	NM_007294.3:c.3910delG	NP_009225.1:p.Glu1304Lysfs	NC_000017.10:g.41243638delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3904G>T (p.Glu1302Ter)	672	BRCA1	Pathogenic	80357461	RCV000048375; RCV000083199;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243644	41243644	NM_007294.3:c.3904G>T	NP_009225.1:p.Glu1302Ter	NC_000017.10:g.41243644C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3903T>A (p.Ser1301Arg)	672	BRCA1	Uncertain significance	273900719	RCV000048374; RCV000077559;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243645	41243645	NM_007294.3:c.3903T>A	NP_009225.1:p.Ser1301Arg	NC_000017.10:g.41243645A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3901_3902delAG (p.Ser1301Terfs)	672	BRCA1	Pathogenic	80357646	RCV000048373; RCV000077558;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243646	41243647	NM_007294.3:c.3901_3902delAG	NP_009225.1:p.Ser1301Terfs	NC_000017.10:g.41243646_41243647delCT	Breast Cancer Information Core (BRCA1):4020&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3895C>T (p.Gln1299Ter)	672	BRCA1	Pathogenic	80357038	RCV000048370; RCV000112209; RCV000131813;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243653	41243653	NM_007294.3:c.3895C>T	NP_009225.1:p.Gln1299Ter	NC_000017.10:g.41243653G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3891_3893delTTC (p.Ser1298del)	672	BRCA1	Uncertain significance	80358339	RCV000048368; RCV000112208;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243655	41243657	NM_007294.3:c.3891_3893delTTC	NP_009225.1:p.Ser1298del	NC_000017.10:g.41243655_41243657delGAA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3893C>A (p.Ser1298Ter)	672	BRCA1	Pathogenic	80357440	RCV000048369; RCV000077557; RCV000212178; RCV000162869;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41243655	41243655	NM_007294.3:c.3893C>A	NP_009225.1:p.Ser1298Ter	NC_000017.10:g.41243655G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.3880_3883delAGCT (p.Ser1294Cysfs)	672	BRCA1	not provided	397509116	RCV000048367;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243665	41243668	NM_007294.3:c.3880_3883delAGCT	NP_009225.1:p.Ser1294Cysfs	NC_000017.10:g.41243665_41243668delAGCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3878C>A (p.Ala1293Asp)	672	BRCA1	Uncertain significance	80357213	RCV000048365; RCV000112207;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243670	41243670	NM_007294.3:c.3878C>A	NP_009225.1:p.Ala1293Asp	NC_000017.10:g.41243670G>A,NC_000017.10:g.41243670G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3878C>T (p.Ala1293Val)	672	BRCA1	Uncertain significance	80357213	RCV000048366; RCV000077556; RCV000164922;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243670	41243670	NM_007294.3:c.3878C>T	NP_009225.1:p.Ala1293Val	NC_000017.10:g.41243670G>A,NC_000017.10:g.41243670G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3876delT (p.Ala1293Leufs)	672	BRCA1	not provided	397509115	RCV000048364;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243672	41243672	NM_007294.3:c.3876delT	NP_009225.1:p.Ala1293Leufs	NC_000017.10:g.41243672delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3871_3872insC (p.Cys1291Serfs)	672	BRCA1	not provided	397509114	RCV000048363;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243676	41243677	NM_007294.3:c.3871_3872insC	NP_009225.1:p.Cys1291Serfs	NC_000017.10:g.41243676_41243677insG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3869_3870delAA (p.Lys1290Metfs)	672	BRCA1	Pathogenic	80357918	RCV000048362; RCV000112206; RCV000213665;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243678	41243679	NM_007294.3:c.3869_3870delAA	NP_009225.1:p.Lys1290Metfs	NC_000017.10:g.41243678_41243679delTT	Breast Cancer Information Core (BRCA1):3988&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3868A>T (p.Lys1290Ter)	672	BRCA1	Pathogenic	80357254	RCV000048361; RCV000031135;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243680	41243680	NM_007294.3:c.3868A>T	NP_009225.1:p.Lys1290Ter	NC_000017.10:g.41243680T>A,NC_000017.10:g.41243680T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3868A>G (p.Lys1290Glu)	672	BRCA1	Uncertain significance	80357254	RCV000159983; RCV000077134; RCV000218431;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243680	41243680	NM_007294.3:c.3868A>G	NP_009225.1:p.Lys1290Glu	NC_000017.10:g.41243680T>A,NC_000017.10:g.41243680T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3862delG (p.Glu1288Lysfs)	672	BRCA1	Pathogenic	273900718	RCV000048360; RCV000112204;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243686	41243686	NM_007294.3:c.3862delG	NP_009225.1:p.Glu1288Lysfs	NC_000017.10:g.41243686delC	Breast Cancer Information Core (BRCA1):3981&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3856delA (p.Ser1286Valfs)	672	BRCA1	Pathogenic	80357855	RCV000048358; RCV000112203;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243692	41243692	NM_007294.3:c.3856delA	NP_009225.1:p.Ser1286Valfs	NC_000017.10:g.41243692delT	Breast Cancer Information Core (BRCA1):3975&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3851A>G (p.His1284Arg)	672	BRCA1	Uncertain significance	80357499	RCV000048357; RCV000112201;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243697	41243697	NM_007294.3:c.3851A>G	NP_009225.1:p.His1284Arg	NC_000017.10:g.41243697T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3848A>G (p.His1283Arg)	672	BRCA1	Uncertain significance	80357047	RCV000048356; RCV000112200; RCV000130141;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243700	41243700	NM_007294.3:c.3848A>G	NP_009225.1:p.His1283Arg	NC_000017.10:g.41243700T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3845A>T (p.Glu1282Val)	672	BRCA1	Likely benign;Uncertain significance	80357217	RCV000048355; RCV000112199; RCV000212177; RCV000162771;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41243703	41243703	NM_007294.3:c.3845A>T	NP_009225.1:p.Glu1282Val	NC_000017.10:g.41243703T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.3844delG (p.Glu1282Asnfs)	672	BRCA1	not provided	397509113	RCV000048354;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243704	41243704	NM_007294.3:c.3844delG	NP_009225.1:p.Glu1282Asnfs	NC_000017.10:g.41243704delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3839_3843delCTCAGinsAGGC (p.Ser1280Terfs)	672	BRCA1	Pathogenic	273900717	RCV000048349; RCV000112194; RCV000219141;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243705	41243709	NM_007294.3:c.3839_3843delCTCAGinsAGGC	NP_009225.1:p.Ser1280Terfs		Breast Cancer Information Core (BRCA1):3958&base_change=del CTCAG ins AGGC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3841_3843delCAG (p.Gln1281del)	672	BRCA1	Uncertain significance	80358338	RCV000048352; RCV000112197;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243705	41243707	NM_007294.3:c.3841_3843delCAG	NP_009225.1:p.Gln1281del	NC_000017.10:g.41243705_41243707delCTG	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3841_3842delCA (p.Gln1281Glyfs)	672	BRCA1	Pathogenic	80357584	RCV000048351; RCV000112196;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243706	41243707	NM_007294.3:c.3841_3842delCA	NP_009225.1:p.Gln1281Glyfs	NC_000017.10:g.41243706_41243707delTG	Breast Cancer Information Core (BRCA1):3960&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3842A>C (p.Gln1281Pro)	672	BRCA1	Uncertain significance	80357483	RCV000048353; RCV000112198;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243706	41243706	NM_007294.3:c.3842A>C	NP_009225.1:p.Gln1281Pro	NC_000017.10:g.41243706T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3835G>A (p.Ala1279Thr)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357036	RCV000048348; RCV000083198; RCV000129501;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243713	41243713	NM_007294.3:c.3835G>A	NP_009225.1:p.Ala1279Thr	NC_000017.10:g.41243713C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3829G>C (p.Ala1277Pro)	672	BRCA1	not provided	397509112	RCV000048347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243719	41243719	NM_007294.3:c.3829G>C	NP_009225.1:p.Ala1277Pro	NC_000017.10:g.41243719C>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3823A>G (p.Ile1275Val)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357280	RCV000048346; RCV000031130; RCV000195318; RCV000034745; RCV000120279; RCV000162522;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41243725	41243725	NM_007294.3:c.3823A>G	NP_009225.1:p.Ile1275Val	NC_000017.10:g.41243725T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.3822_3823insT (p.Ile1275Tyrfs)	672	BRCA1	not provided	397509111	RCV000048345;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243725	41243726	NM_007294.3:c.3822_3823insT	NP_009225.1:p.Ile1275Tyrfs	NC_000017.10:g.41243725_41243726insA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3820delG (p.Val1274Terfs)	672	BRCA1	not provided	397509110	RCV000048343;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243728	41243728	NM_007294.3:c.3820delG	NP_009225.1:p.Val1274Terfs	NC_000017.10:g.41243728delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3820dupG (p.Val1274Glyfs)	672	BRCA1	Pathogenic	80357616	RCV000048344; RCV000112192;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243728	41243728	NM_007294.3:c.3820dupG	NP_009225.1:p.Val1274Glyfs	NC_000017.10:g.41243728dupC	Breast Cancer Information Core (BRCA1):3939&base_change=ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3817C>T (p.Gln1273Ter)	672	BRCA1	Pathogenic	80357208	RCV000048342; RCV000112191; RCV000162867;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243731	41243731	NM_007294.3:c.3817C>T	NP_009225.1:p.Gln1273Ter	NC_000017.10:g.41243731G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3814_3815insT (p.Asn1272Ilefs)	672	BRCA1	not provided	397509109	RCV000048341;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243733	41243734	NM_007294.3:c.3814_3815insT	NP_009225.1:p.Asn1272Ilefs	NC_000017.10:g.41243733_41243734insA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3813dupT (p.Asn1272Terfs)	672	BRCA1	not provided	397509108	RCV000048340;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243735	41243735	NM_007294.3:c.3813dupT	NP_009225.1:p.Asn1272Terfs	NC_000017.10:g.41243735dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3804T>C (p.Asn1268=)	672	BRCA1	Benign;Likely benign	140588714	RCV000123916; RCV000204665; RCV000162630;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	17	41243744	41243744	NM_007294.3:c.3804T>C	NP_009225.1:p.Asn1268=	NC_000017.10:g.41243744A>C,NC_000017.10:g.41243744A>G	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3803A>G (p.Asn1268Ser)	672	BRCA1	Uncertain significance	273900716	RCV000048338; RCV000112190;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243745	41243745	NM_007294.3:c.3803A>G	NP_009225.1:p.Asn1268Ser	NC_000017.10:g.41243745T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3794delA (p.Asn1265Ilefs)	672	BRCA1	Pathogenic	80357767	RCV000048335; RCV000112188;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243754	41243754	NM_007294.3:c.3794delA	NP_009225.1:p.Asn1265Ilefs	NC_000017.10:g.41243754delT	Breast Cancer Information Core (BRCA1):3913&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3785C>A (p.Ser1262Ter)	672	BRCA1	Pathogenic	80357269	RCV000048333; RCV000112186;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243763	41243763	NM_007294.3:c.3785C>A	NP_009225.1:p.Ser1262Ter	NC_000017.10:g.41243763G>A,NC_000017.10:g.41243763G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3785C>T (p.Ser1262Leu)	672	BRCA1	Uncertain significance	80357269	RCV000048334; RCV000112187;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243763	41243763	NM_007294.3:c.3785C>T	NP_009225.1:p.Ser1262Leu	NC_000017.10:g.41243763G>A,NC_000017.10:g.41243763G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3783A>G (p.Leu1261=)	672	BRCA1	Benign;Likely benign	80356831	RCV000048332; RCV000112185; RCV000164014;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243765	41243765	NM_007294.3:c.3783A>G	NP_009225.1:p.Leu1261=	NC_000017.10:g.41243765T>A,NC_000017.10:g.41243765T>C	Breast Cancer Information Core (BRCA1):3902&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3782T>G (p.Leu1261Ter)	672	BRCA1	not provided	397507219	RCV000048330;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243766	41243766	NM_007294.3:c.3782T>G	NP_009225.1:p.Leu1261Ter	NC_000017.10:g.41243766A>C,NC_000017.10:g.41243766A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3782delT (p.Leu1261Tyrfs)	672	BRCA1	Pathogenic	80357545	RCV000048331; RCV000112184;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243766	41243766	NM_007294.3:c.3782delT	NP_009225.1:p.Leu1261Tyrfs	NC_000017.10:g.41243766delA	Breast Cancer Information Core (BRCA1):3901&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3779delT (p.Leu1260Tyrfs)	672	BRCA1	Pathogenic	80357798	RCV000048329; RCV000112182;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243769	41243769	NM_007294.3:c.3779delT	NP_009225.1:p.Leu1260Tyrfs	NC_000017.10:g.41243769delA	Breast Cancer Information Core (BRCA1):3896&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3771_3778delGGAGAATT (p.Glu1257Aspfs)	672	BRCA1	not provided	397509104	RCV000048326;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243770	41243777	NM_007294.3:c.3771_3778delGGAGAATT	NP_009225.1:p.Glu1257Aspfs	NC_000017.10:g.41243770_41243777delAATTCTCC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3774_3775delGA (p.Asn1259Phefs)	672	BRCA1	not provided	397509106	RCV000048328;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243773	41243774	NM_007294.3:c.3774_3775delGA	NP_009225.1:p.Asn1259Phefs	NC_000017.10:g.41243773_41243774delTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3772G>T (p.Glu1258Ter)	672	BRCA1	not provided	397509105	RCV000048327;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243776	41243776	NM_007294.3:c.3772G>T	NP_009225.1:p.Glu1258Ter	NC_000017.10:g.41243776C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3767_3768delCA (p.Thr1256Argfs)	672	BRCA1	Pathogenic	730881440	RCV000159844; RCV000221128;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243780	41243781	NM_007294.3:c.3767_3768delCA	NP_009225.1:p.Thr1256Argfs	NC_000017.10:g.41243780_41243781delTG	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3763_3764delAA (p.Asn1255Hisfs)	672	BRCA1	not provided	397509103	RCV000048323;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243784	41243785	NM_007294.3:c.3763_3764delAA	NP_009225.1:p.Asn1255Hisfs	NC_000017.10:g.41243784_41243785delTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3762_3763delGA (p.Asn1255Hisfs)	672	BRCA1	Pathogenic	80357645	RCV000048322; RCV000112176;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243785	41243786	NM_007294.3:c.3762_3763delGA	NP_009225.1:p.Asn1255Hisfs	NC_000017.10:g.41243785_41243786delTC	Breast Cancer Information Core (BRCA1):3880&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3760_3761insT (p.Lys1254Ilefs)	672	BRCA1	Pathogenic	80357986	RCV000048321; RCV000112175;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243787	41243788	NM_007294.3:c.3760_3761insT	NP_009225.1:p.Lys1254Ilefs	NC_000017.10:g.41243787_41243788insA	Breast Cancer Information Core (BRCA1):3879&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3759_3760delTA (p.Lys1254Glufs)	672	BRCA1	Pathogenic	80357520	RCV000048317; RCV000031125; RCV000223389;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243788	41243789	NM_007294.3:c.3759_3760delTA	NP_009225.1:p.Lys1254Glufs	NC_000017.10:g.41243788_41243789delTA	Breast Cancer Information Core (BRCA1):3878&base_change=del TA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3760A>G (p.Lys1254Glu)	672	BRCA1	Uncertain significance	80357362	RCV000048320; RCV000112174; RCV000216713; RCV000212176;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	41243788	41243788	NM_007294.3:c.3760A>G	NP_009225.1:p.Lys1254Glu	NC_000017.10:g.41243788T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs)	672	BRCA1	Likely pathogenic;Pathogenic	80357868	RCV000048314; RCV000019242; RCV000167859; RCV000131810;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243789	41243792	NM_007294.3:c.3756_3759delGTCT	NP_009225.1:p.Ser1253Argfs	NC_000017.10:g.41243789_41243792delAGAC	Breast Cancer Information Core (BRCA1):3874&base_change=del TGTC,Breast Cancer Information Core (BRCA1):3875&base_change=del GTCT,OMIM Allelic Variant:	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3759T>G (p.Ser1253=)	672	BRCA1	Uncertain significance	80356852	RCV000048316; RCV000112173;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243789	41243789	NM_007294.3:c.3759T>G	NP_009225.1:p.Ser1253=	NC_000017.10:g.41243789A>C	Breast Cancer Information Core (BRCA1):3878&base_change=T to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3759dupT (p.Lys1254Terfs)	672	BRCA1	Pathogenic	80357687	RCV000048318; RCV000077130; RCV000164495;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243789	41243789	NM_007294.3:c.3759dupT	NP_009225.1:p.Lys1254Terfs	NC_000017.10:g.41243789dupA	Breast Cancer Information Core (BRCA1):3878&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3758C>A (p.Ser1253Tyr)	672	BRCA1	not provided	397509100	RCV000048315;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243790	41243790	NM_007294.3:c.3758C>A	NP_009225.1:p.Ser1253Tyr	NC_000017.10:g.41243790G>C,NC_000017.10:g.41243790G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3756_3757delGT (p.Ser1253Terfs)	672	BRCA1	not provided	397509099	RCV000048313;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243791	41243792	NM_007294.3:c.3756_3757delGT	NP_009225.1:p.Ser1253Terfs	NC_000017.10:g.41243791_41243792delAC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3753T>A (p.Cys1251Ter)	672	BRCA1	not provided	397509098	RCV000048312;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243795	41243795	NM_007294.3:c.3753T>A	NP_009225.1:p.Cys1251Ter	NC_000017.10:g.41243795A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3748G>T (p.Glu1250Ter)	672	BRCA1	Pathogenic	28897686	RCV000074586; RCV000019241; RCV000048311; RCV000131811;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243800	41243800	NM_007294.3:c.3748G>T	NP_009225.1:p.Glu1250Ter	NC_000017.10:g.41243800C>A,NC_000017.10:g.41243800C>T	OMIM Allelic Variant:113705.0013	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3746C>G (p.Thr1249Ser)	672	BRCA1	Uncertain significance	80357099	RCV000048309; RCV000112169;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243802	41243802	NM_007294.3:c.3746C>G	NP_009225.1:p.Thr1249Ser	NC_000017.10:g.41243802G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3722_3740del19 (p.Ser1241Leufs)	672	BRCA1	Pathogenic	80359882	RCV000048304; RCV000112165;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243808	41243826	NM_007294.3:c.3722_3740del19	NP_009225.1:p.Ser1241Leufs	NC_000017.10:g.41243808_41243826del19	Breast Cancer Information Core (BRCA1):3841&base_change=del 19	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3736delA (p.Thr1246Profs)	672	BRCA1	Pathogenic	80357578	RCV000048307; RCV000112167;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243812	41243812	NM_007294.3:c.3736delA	NP_009225.1:p.Thr1246Profs	NC_000017.10:g.41243812delT	Breast Cancer Information Core (BRCA1):3855&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3724A>G (p.Thr1242Ala)	672	BRCA1	Uncertain significance	80357037	RCV000048305; RCV000112166; RCV000212175; RCV000130029;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41243824	41243824	NM_007294.3:c.3724A>G	NP_009225.1:p.Thr1242Ala	NC_000017.10:g.41243824T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.3722C>G (p.Ser1241Cys)	672	BRCA1	not provided	80357143	RCV000048303;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243826	41243826	NM_007294.3:c.3722C>G	NP_009225.1:p.Ser1241Cys	NC_000017.10:g.41243826G>C,NC_000017.10:g.41243826G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3715_3717delTCTinsC (p.Ser1239Profs)	672	BRCA1	Pathogenic	273900714	RCV000048298; RCV000112163;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243831	41243833	NM_007294.3:c.3715_3717delTCTinsC	NP_009225.1:p.Ser1239Profs	NC_000017.10:g.41243831_41243833delAGAinsG	Breast Cancer Information Core (BRCA1):3834&base_change=del TCT ins C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3716dupC (p.Gln1240Serfs)	672	BRCA1	not provided	397509097	RCV000048300;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243832	41243832	NM_007294.3:c.3716dupC	NP_009225.1:p.Gln1240Serfs	NC_000017.10:g.41243832dupG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3715delT (p.Ser1239Leufs)	672	BRCA1	not provided	397509096	RCV000048299;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243833	41243833	NM_007294.3:c.3715delT	NP_009225.1:p.Ser1239Leufs	NC_000017.10:g.41243833delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3706_3713delAATATACC (p.Asn1236Phefs)	672	BRCA1	Pathogenic	80357552	RCV000048291; RCV000112158;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243835	41243842	NM_007294.3:c.3706_3713delAATATACC	NP_009225.1:p.Asn1236Phefs	NC_000017.10:g.41243835_41243842delGGTATATT	Breast Cancer Information Core (BRCA1):3825&base_change=del AATATACC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3713C>G (p.Pro1238Arg)	672	BRCA1	Uncertain significance	28897688	RCV000048296; RCV000112162;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243835	41243835	NM_007294.3:c.3713C>G	NP_009225.1:p.Pro1238Arg	NC_000017.10:g.41243835G>A,NC_000017.10:g.41243835G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3710delT (p.Ile1237Asnfs)	672	BRCA1	Pathogenic	80357564	RCV000048294; RCV000112160; RCV000130545;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243838	41243838	NM_007294.3:c.3710delT	NP_009225.1:p.Ile1237Asnfs	NC_000017.10:g.41243838delA	Breast Cancer Information Core (BRCA1):3829&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3704_3707delACAA (p.Asn1235Ilefs)	672	BRCA1	not provided	397509094	RCV000048288;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243841	41243844	NM_007294.3:c.3704_3707delACAA	NP_009225.1:p.Asn1235Ilefs	NC_000017.10:g.41243841_41243844delTTGT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3706_3707delAA (p.Asn1236Tyrfs)	672	BRCA1	Pathogenic	80357666	RCV000048290; RCV000112157;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243841	41243842	NM_007294.3:c.3706_3707delAA	NP_009225.1:p.Asn1236Tyrfs	NC_000017.10:g.41243841_41243842delTT	Breast Cancer Information Core (BRCA1):3825&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3704delA (p.Asn1235Thrfs)	672	BRCA1	not provided	397509095	RCV000048289;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243844	41243844	NM_007294.3:c.3704delA	NP_009225.1:p.Asn1235Thrfs	NC_000017.10:g.41243844delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3699delA (p.Val1234Terfs)	672	BRCA1	Pathogenic	80357873	RCV000048286; RCV000112156;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243849	41243849	NM_007294.3:c.3699delA	NP_009225.1:p.Val1234Terfs	NC_000017.10:g.41243849delT	Breast Cancer Information Core (BRCA1):3818&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3695_3698delGTAA (p.Gly1232Glufs)	672	BRCA1	not provided	397509093	RCV000048284;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243850	41243853	NM_007294.3:c.3695_3698delGTAA	NP_009225.1:p.Gly1232Glufs	NC_000017.10:g.41243850_41243853delTTAC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3698A>G (p.Lys1233Arg)	672	BRCA1	Uncertain significance	80357141	RCV000048285; RCV000112155;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243850	41243850	NM_007294.3:c.3698A>G	NP_009225.1:p.Lys1233Arg	NC_000017.10:g.41243850T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3693dupT (p.Gly1232Trpfs)	672	BRCA1	not provided	397509092	RCV000048283;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243855	41243855	NM_007294.3:c.3693dupT	NP_009225.1:p.Gly1232Trpfs	NC_000017.10:g.41243855dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3691T>C (p.Phe1231Leu)	672	BRCA1	Benign;Likely benign;Uncertain significance	41293451	RCV000048282; RCV000031122; RCV000195391; RCV000131521;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243857	41243857	NM_007294.3:c.3691T>C	NP_009225.1:p.Phe1231Leu	NC_000017.10:g.41243857A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3689T>G (p.Leu1230Ter)	672	BRCA1	Pathogenic	80357162	RCV000048281; RCV000112154;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243859	41243859	NM_007294.3:c.3689T>G	NP_009225.1:p.Leu1230Ter	NC_000017.10:g.41243859A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3681A>T (p.Gln1227His)	672	BRCA1	Uncertain significance	730881488	RCV000159980;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243867	41243867	NM_007294.3:c.3681A>T	NP_009225.1:p.Gln1227His	NC_000017.10:g.41243867T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3676_3679delTTCC (p.Phe1226Asnfs)	672	BRCA1	Pathogenic	80357671	RCV000048280; RCV000112153;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243869	41243872	NM_007294.3:c.3676_3679delTTCC	NP_009225.1:p.Phe1226Asnfs	NC_000017.10:g.41243869_41243872delGGAA	Breast Cancer Information Core (BRCA1):3795&base_change=del TTCC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3668_3671dupTTCC (p.Cys1225Serfs)	672	BRCA1	Pathogenic	80357797	RCV000159921; RCV000112152; RCV000048279; RCV000129597;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243877	41243880	NM_007294.3:c.3668_3671dupTTCC	NP_009225.1:p.Cys1225Serfs		Breast Cancer Information Core (BRCA1):3790&base_change=ins TTCC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3664G>T (p.Glu1222Ter)	672	BRCA1	Pathogenic	80357356	RCV000048278; RCV000083196; RCV000131817;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243884	41243884	NM_007294.3:c.3664G>T	NP_009225.1:p.Glu1222Ter	NC_000017.10:g.41243884C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3662A>C (p.Glu1221Ala)	672	BRCA1	Uncertain significance	273900713	RCV000048277; RCV000112150; RCV000132409;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243886	41243886	NM_007294.3:c.3662A>C	NP_009225.1:p.Glu1221Ala	NC_000017.10:g.41243886T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3661G>T (p.Glu1221Ter)	672	BRCA1	Pathogenic	80357310	RCV000048276; RCV000112149; RCV000162864; RCV000148388;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221572	17	41243887	41243887	NM_007294.3:c.3661G>T	NP_009225.1:p.Glu1221Ter	NC_000017.10:g.41243887C>A	-	CN221572 Breast cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3657G>C (p.Glu1219Asp)	672	BRCA1	Likely benign;Uncertain significance	80356876	RCV000048275; RCV000031118; RCV000203654; RCV000173838; RCV000131238; RCV000148382;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN221572; MedGen:CN221809	17	41243891	41243891	NM_007294.3:c.3657G>C	NP_009225.1:p.Glu1219Asp	NC_000017.10:g.41243891C>G	-	CN221572 Breast cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.3655G>A (p.Glu1219Lys)	672	BRCA1	Uncertain significance	80356921	RCV000048274; RCV000112148; RCV000129819;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243893	41243893	NM_007294.3:c.3655G>A	NP_009225.1:p.Glu1219Lys	NC_000017.10:g.41243893C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3652A>T (p.Ser1218Cys)	672	BRCA1	Uncertain significance	80356894	RCV000048273; RCV000112147;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243896	41243896	NM_007294.3:c.3652A>T	NP_009225.1:p.Ser1218Cys	NC_000017.10:g.41243896T>A,NC_000017.10:g.41243896T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3649T>C (p.Ser1217Pro)	672	BRCA1	Uncertain significance	273900712	RCV000048271; RCV000112145; RCV000164401;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243899	41243899	NM_007294.3:c.3649T>C	NP_009225.1:p.Ser1217Pro	NC_000017.10:g.41243899A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3649dupT (p.Ser1217Phefs)	672	BRCA1	not provided	80357831	RCV000048272;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243899	41243899	NM_007294.3:c.3649dupT	NP_009225.1:p.Ser1217Phefs	NC_000017.10:g.41243898_41243899insT,NC_000017.10:g.41243899dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3648dupA (p.Ser1217Ilefs)	672	BRCA1	Pathogenic	80357902	RCV000048270; RCV000031116; RCV000221757;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243900	41243900	NM_007294.3:c.3648dupA	NP_009225.1:p.Ser1217Ilefs	NC_000017.10:g.41243900dupT	Breast Cancer Information Core (BRCA1):3767&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3647T>G (p.Leu1216Ter)	672	BRCA1	not provided	397509091	RCV000048269;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243901	41243901	NM_007294.3:c.3647T>G	NP_009225.1:p.Leu1216Ter	NC_000017.10:g.41243901A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3642_3643delGA (p.Asn1215Leufs)	672	BRCA1	Pathogenic	80357805	RCV000048268; RCV000112144; RCV000215002;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243905	41243906	NM_007294.3:c.3642_3643delGA	NP_009225.1:p.Asn1215Leufs	NC_000017.10:g.41243905_41243906delTC	Breast Cancer Information Core (BRCA1):3761&base_change=del GA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3640G>T (p.Glu1214Ter)	672	BRCA1	Likely pathogenic;Pathogenic	80356923	RCV000048267; RCV000112143;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243908	41243908	NM_007294.3:c.3640G>T	NP_009225.1:p.Glu1214Ter	NC_000017.10:g.41243908C>A,NC_000017.10:g.41243908C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3629_3630delAG (p.Glu1210Valfs)	672	BRCA1	Pathogenic	80357589	RCV000048265; RCV000112141;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243918	41243919	NM_007294.3:c.3629_3630delAG	NP_009225.1:p.Glu1210Valfs	NC_000017.10:g.41243918_41243919delCT	Breast Cancer Information Core (BRCA1):3748&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3628delG (p.Glu1210Serfs)	672	BRCA1	not provided	397509090	RCV000048264;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243920	41243920	NM_007294.3:c.3628delG	NP_009225.1:p.Glu1210Serfs	NC_000017.10:g.41243920delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3621_3626delGAAATTinsAA (p.Leu1209Serfs)	672	BRCA1	not provided	397509087	RCV000048257;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243922	41243927	NM_007294.3:c.3621_3626delGAAATTinsAA	NP_009225.1:p.Leu1209Serfs	NC_000017.10:g.41243922_41243927delAATTTCinsTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3626delT (p.Leu1209Terfs)	672	BRCA1	Pathogenic	80357571	RCV000048261; RCV000112140;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243922	41243922	NM_007294.3:c.3626delT	NP_009225.1:p.Leu1209Terfs	NC_000017.10:g.41243922delA	Breast Cancer Information Core (BRCA1):3745&base_change=del T,OMIM Allelic Variant:113705.0032	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3626dupT (p.Leu1209Phefs)	672	BRCA1	not provided	397509089	RCV000048262;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243922	41243922	NM_007294.3:c.3626dupT	NP_009225.1:p.Leu1209Phefs	NC_000017.10:g.41243922dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3624dupA (p.Leu1209Ilefs)	672	BRCA1	Pathogenic	80357512	RCV000048259; RCV000112139;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243924	41243924	NM_007294.3:c.3624dupA	NP_009225.1:p.Leu1209Ilefs	NC_000017.10:g.41243924dupT	Breast Cancer Information Core (BRCA1):3741&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3622A>G (p.Lys1208Glu)	672	BRCA1	Uncertain significance	80357152	RCV000048258; RCV000112138;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243926	41243926	NM_007294.3:c.3622A>G	NP_009225.1:p.Lys1208Glu	NC_000017.10:g.41243926T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3619A>T (p.Lys1207Ter)	672	BRCA1	Pathogenic	80357455	RCV000074583; RCV000112136;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243929	41243929	NM_007294.3:c.3619A>T	NP_009225.1:p.Lys1207Ter	NC_000017.10:g.41243929T>A,NC_000017.10:g.41243929T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3613G>A (p.Gly1205Arg)	672	BRCA1	Uncertain significance	80357294	RCV000048254; RCV000112135;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243935	41243935	NM_007294.3:c.3613G>A	NP_009225.1:p.Gly1205Arg	NC_000017.10:g.41243935C>G,NC_000017.10:g.41243935C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3613G>C (p.Gly1205Arg)	672	BRCA1	not provided	80357294	RCV000048255;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243935	41243935	NM_007294.3:c.3613G>C	NP_009225.1:p.Gly1205Arg	NC_000017.10:g.41243935C>G,NC_000017.10:g.41243935C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3612delA (p.Ala1206Profs)	672	BRCA1	Pathogenic	80357980	RCV000048253; RCV000031114; RCV000219713;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243936	41243936	NM_007294.3:c.3612delA	NP_009225.1:p.Ala1206Profs	NC_000017.10:g.41243936delT	Breast Cancer Information Core (BRCA1):3731&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3607C>T (p.Arg1203Ter)	672	BRCA1	Pathogenic	62625308	RCV000159978; RCV000019240; RCV000048251; RCV000131818; RCV000148389;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN221572	17	41243941	41243941	NM_007294.3:c.3607C>T	NP_009225.1:p.Arg1203Ter	NC_000017.10:g.41243941G>A,NC_000017.10:g.41243941G>C	OMIM Allelic Variant:113705.0012	CN221572 Breast cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3607C>G (p.Arg1203Gly)	672	BRCA1	Uncertain significance	62625308	RCV000048250; RCV000112133;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243941	41243941	NM_007294.3:c.3607C>G	NP_009225.1:p.Arg1203Gly	NC_000017.10:g.41243941G>A,NC_000017.10:g.41243941G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3603T>G (p.Gly1201=)	672	BRCA1	Uncertain significance	80356830	RCV000048249; RCV000112132;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243945	41243945	NM_007294.3:c.3603T>G	NP_009225.1:p.Gly1201=	NC_000017.10:g.41243945A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3596_3602delCTCAGGG (p.Ala1199Valfs)	672	BRCA1	not provided	397509086	RCV000048244;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243946	41243952	NM_007294.3:c.3596_3602delCTCAGGG	NP_009225.1:p.Ala1199Valfs	NC_000017.10:g.41243946_41243952delCCCTGAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3601G>A (p.Gly1201Ser)	672	BRCA1	Uncertain significance	55725337	RCV000048248; RCV000112131; RCV000166259;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243947	41243947	NM_007294.3:c.3601G>A	NP_009225.1:p.Gly1201Ser	NC_000017.10:g.41243947C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter)	672	BRCA1	Pathogenic	62625307	RCV000159977; RCV000077552; RCV000048245; RCV000131819;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41243950	41243950	NM_007294.3:c.3598C>T	NP_009225.1:p.Gln1200Ter	NC_000017.10:g.41243950G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3593T>A (p.Leu1198Ter)	672	BRCA1	not provided	397509085	RCV000048243;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243955	41243955	NM_007294.3:c.3593T>A	NP_009225.1:p.Leu1198Ter	NC_000017.10:g.41243955A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3587C>A (p.Thr1196Lys)	672	BRCA1	Uncertain significance	80356944	RCV000048241; RCV000112126; RCV000218622;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243961	41243961	NM_007294.3:c.3587C>A	NP_009225.1:p.Thr1196Lys	NC_000017.10:g.41243961G>A,NC_000017.10:g.41243961G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3586dupA (p.Thr1196Asnfs)	672	BRCA1	Pathogenic	80357531	RCV000048240; RCV000112125;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243962	41243962	NM_007294.3:c.3586dupA	NP_009225.1:p.Thr1196Asnfs	NC_000017.10:g.41243962dupT	Breast Cancer Information Core (BRCA1):3705&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3583delC (p.His1195Ilefs)	672	BRCA1	Pathogenic	273900710	RCV000048239; RCV000112123;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243965	41243965	NM_007294.3:c.3583delC	NP_009225.1:p.His1195Ilefs	NC_000017.10:g.41243965delG	Breast Cancer Information Core (BRCA1):3700&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3581C>T (p.Thr1194Ile)	672	BRCA1	Uncertain significance	80357290	RCV000048238; RCV000112122; RCV000223601; RCV000168503;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	41243967	41243967	NM_007294.3:c.3581C>T	NP_009225.1:p.Thr1194Ile	NC_000017.10:g.41243967G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3580delA (p.Thr1194Profs)	672	BRCA1	Pathogenic	80357663	RCV000048237; RCV000112121;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243968	41243968	NM_007294.3:c.3580delA	NP_009225.1:p.Thr1194Profs	NC_000017.10:g.41243968delT	Breast Cancer Information Core (BRCA1):3699&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3578dupT (p.Thr1194Hisfs)	672	BRCA1	not provided	397509083	RCV000048236;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243970	41243970	NM_007294.3:c.3578dupT	NP_009225.1:p.Thr1194Hisfs	NC_000017.10:g.41243970dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3575_3576insAA (p.Phe1193Ilefs)	672	BRCA1	not provided	397509082	RCV000048235;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243972	41243973	NM_007294.3:c.3575_3576insAA	NP_009225.1:p.Phe1193Ilefs	NC_000017.10:g.41243972_41243973insTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3569_3570delCT (p.Pro1190Glnfs)	672	BRCA1	Pathogenic	80357845	RCV000048234; RCV000112119;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243978	41243979	NM_007294.3:c.3569_3570delCT	NP_009225.1:p.Pro1190Glnfs	NC_000017.10:g.41243978_41243979delAG	Breast Cancer Information Core (BRCA1):3688&base_change=del CT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3560G>A (p.Ser1187Asn)	672	BRCA1	Uncertain significance	80356975	RCV000048233; RCV000112118; RCV000217356;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41243988	41243988	NM_007294.3:c.3560G>A	NP_009225.1:p.Ser1187Asn	NC_000017.10:g.41243988C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3553G>T (p.Glu1185Ter)	672	BRCA1	not provided	397509081	RCV000048232;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243995	41243995	NM_007294.3:c.3553G>T	NP_009225.1:p.Glu1185Ter	NC_000017.10:g.41243995C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3549_3550delAG (p.Gly1184Argfs)	672	BRCA1	not provided	730882057	RCV000048230;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41243998	41243999	NM_007294.3:c.3549_3550delAG	NP_009225.1:p.Gly1184Argfs	NC_000017.10:g.41243998_41243999delCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3549_3550delAGinsT (p.Lys1183Asnfs)	672	BRCA1	Pathogenic	273899709	RCV000048231; RCV000112117;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41243998	41243999	NM_007294.3:c.3549_3550delAGinsT	NP_009225.1:p.Lys1183Asnfs	NC_000017.10:g.41243998_41243999delCTinsA	Breast Cancer Information Core (BRCA1):3668&base_change=del AG ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg)	672	BRCA1	Benign	16942	RCV000157734; RCV000112115; RCV000048229; RCV000034742; RCV000120278; RCV000128991;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41244000	41244000	NM_007294.3:c.3548A>G	NP_009225.1:p.Lys1183Arg	NC_000017.10:g.41244000T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00010,HGMD:CM058359	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.3544C>T (p.Gln1182Ter)	672	BRCA1	Pathogenic	80357296	RCV000048228; RCV000112114;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244004	41244004	NM_007294.3:c.3544C>T	NP_009225.1:p.Gln1182Ter	NC_000017.10:g.41244004G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3542T>C (p.Val1181Ala)	672	BRCA1	Uncertain significance	80357032	RCV000048227; RCV000112113;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244006	41244006	NM_007294.3:c.3542T>C	NP_009225.1:p.Val1181Ala	NC_000017.10:g.41244006A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3540_3541delCG (p.Val1181Profs)	672	BRCA1	not provided	397509080	RCV000048225;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244007	41244008	NM_007294.3:c.3540_3541delCG	NP_009225.1:p.Val1181Profs	NC_000017.10:g.41244007_41244008delCG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3541G>A (p.Val1181Ile)	672	BRCA1	Uncertain significance	56336919	RCV000048226; RCV000112112; RCV000203659;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244007	41244007	NM_007294.3:c.3541G>A	NP_009225.1:p.Val1181Ile	NC_000017.10:g.41244007C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.3531delT (p.Phe1177Leufs)	672	BRCA1	Pathogenic	80357621	RCV000048224; RCV000112111;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244017	41244017	NM_007294.3:c.3531delT	NP_009225.1:p.Phe1177Leufs	NC_000017.10:g.41244017delA	Breast Cancer Information Core (BRCA1):3650&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3527T>A (p.Val1176Asp)	672	BRCA1	Uncertain significance	80357027	RCV000048223; RCV000112110;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244021	41244021	NM_007294.3:c.3527T>A	NP_009225.1:p.Val1176Asp	NC_000017.10:g.41244021A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3515A>G (p.Glu1172Gly)	672	BRCA1	Uncertain significance	80357206	RCV000048222; RCV000112108; RCV000130829;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244033	41244033	NM_007294.3:c.3515A>G	NP_009225.1:p.Glu1172Gly	NC_000017.10:g.41244033T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3514G>T (p.Glu1172Ter)	672	BRCA1	not provided	397509079	RCV000048221;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244034	41244034	NM_007294.3:c.3514G>T	NP_009225.1:p.Glu1172Ter	NC_000017.10:g.41244034C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3505_3509delGACAT (p.Asp1169Terfs)	672	BRCA1	not provided	397509078	RCV000048219;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244039	41244043	NM_007294.3:c.3505_3509delGACAT	NP_009225.1:p.Asp1169Terfs	NC_000017.10:g.41244039_41244043delATGTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3508A>T (p.Ile1170Phe)	672	BRCA1	Uncertain significance	273899708	RCV000048220; RCV000112106;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244040	41244040	NM_007294.3:c.3508A>T	NP_009225.1:p.Ile1170Phe	NC_000017.10:g.41244040T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3503dupA (p.Asn1168Lysfs)	672	BRCA1	not provided	397509077	RCV000048218;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244045	41244045	NM_007294.3:c.3503dupA	NP_009225.1:p.Asn1168Lysfs	NC_000017.10:g.41244045dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3494_3495delTT (p.Phe1165Cysfs)	672	BRCA1	not provided	397509076	RCV000048216;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244053	41244054	NM_007294.3:c.3494_3495delTT	NP_009225.1:p.Phe1165Cysfs	NC_000017.10:g.41244053_41244054delAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3481_3491delGAAGATACTAG (p.Glu1161Phefs)	672	BRCA1	Pathogenic	80357877	RCV000159917; RCV000019254; RCV000048211; RCV000131815;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244057	41244067	NM_007294.3:c.3481_3491delGAAGATACTAG	NP_009225.1:p.Glu1161Phefs	NC_000017.10:g.41244057_41244067delCTAGTATCTTC	Breast Cancer Information Core (BRCA1):3598&base_change=del AGGAAGATACT,Breast Cancer Information Core (BRCA1):3600&base_change=del GAAGATACTAG,OMIM Al	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3491G>T (p.Ser1164Ile)	672	BRCA1	not provided	397509075	RCV000048215;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244057	41244057	NM_007294.3:c.3491G>T	NP_009225.1:p.Ser1164Ile	NC_000017.10:g.41244057C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3479_3488delAGGAAGATAC (p.Lys1160Ilefs)	672	BRCA1	not provided	397509073	RCV000048210;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244060	41244069	NM_007294.3:c.3479_3488delAGGAAGATAC	NP_009225.1:p.Lys1160Ilefs	NC_000017.10:g.41244060_41244069delGTATCTTCCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3488C>T (p.Thr1163Ile)	672	BRCA1	Uncertain significance	80356918	RCV000048214; RCV000112104;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244060	41244060	NM_007294.3:c.3488C>T	NP_009225.1:p.Thr1163Ile	NC_000017.10:g.41244060G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3485delA (p.Asp1162Valfs)	672	BRCA1	Pathogenic	80357509	RCV000159918; RCV000031112; RCV000220121; RCV000048213;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244063	41244063	NM_007294.3:c.3485delA	NP_009225.1:p.Asp1162Valfs	NC_000017.10:g.41244063delT	Breast Cancer Information Core (BRCA1):3604&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3481delG (p.Glu1161Lysfs)	672	BRCA1	not provided	397509074	RCV000048212;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244067	41244067	NM_007294.3:c.3481delG	NP_009225.1:p.Glu1161Lysfs	NC_000017.10:g.41244067delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3477_3480delAAAG (p.Ile1159Metfs)	672	BRCA1	Pathogenic	80357781	RCV000048209; RCV000077550; RCV000215402;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244068	41244071	NM_007294.3:c.3477_3480delAAAG	NP_009225.1:p.Ile1159Metfs	NC_000017.10:g.41244068_41244071delCTTT	Breast Cancer Information Core (BRCA1):3596&base_change=del AAAG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3477_3479delAAAinsC (p.Lys1160Glyfs)	672	BRCA1	Pathogenic	273899707	RCV000048208; RCV000083195;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244069	41244071	NM_007294.3:c.3477_3479delAAAinsC	NP_009225.1:p.Lys1160Glyfs	NC_000017.10:g.41244069_41244071delTTTinsG	Breast Cancer Information Core (BRCA1):3596&base_change=del AAA ins C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3472G>T (p.Glu1158Ter)	672	BRCA1	not provided	397509072	RCV000048207;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244076	41244076	NM_007294.3:c.3472G>T	NP_009225.1:p.Glu1158Ter	NC_000017.10:g.41244076C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3468delT (p.Asp1156Glufs)	672	BRCA1	not provided	397509070	RCV000048205;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244080	41244080	NM_007294.3:c.3468delT	NP_009225.1:p.Asp1156Glufs	NC_000017.10:g.41244080delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3463G>C (p.Asp1155His)	672	BRCA1	Benign	80357484	RCV000048204; RCV000112102;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244085	41244085	NM_007294.3:c.3463G>C	NP_009225.1:p.Asp1155His	NC_000017.10:g.41244085C>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00028	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn)	672	BRCA1	Uncertain significance	80357175	RCV000048203; RCV000112100; RCV000212174; RCV000129496;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41244094	41244094	NM_007294.3:c.3454G>A	NP_009225.1:p.Asp1152Asn	NC_000017.10:g.41244094C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.3450delT (p.Asp1151Metfs)	672	BRCA1	not provided	397509068	RCV000048201;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244098	41244098	NM_007294.3:c.3450delT	NP_009225.1:p.Asp1151Metfs	NC_000017.10:g.41244098delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3450dupT (p.Asp1151Terfs)	672	BRCA1	not provided	397509069	RCV000048202;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244098	41244098	NM_007294.3:c.3450dupT	NP_009225.1:p.Asp1151Terfs	NC_000017.10:g.41244098dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3448C>T (p.Pro1150Ser)	672	BRCA1	Uncertain significance	80357272	RCV000048200; RCV000112099; RCV000168502; RCV000131184;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41244100	41244100	NM_007294.3:c.3448C>T	NP_009225.1:p.Pro1150Ser	NC_000017.10:g.41244100G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.3442delG (p.Glu1148Argfs)	672	BRCA1	Pathogenic	80357808	RCV000048199; RCV000031111; RCV000130808;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244106	41244106	NM_007294.3:c.3442delG	NP_009225.1:p.Glu1148Argfs	NC_000017.10:g.41244106delC	Breast Cancer Information Core (BRCA1):3561&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3436_3439delTGTT (p.Cys1146Leufs)	672	BRCA1	Pathogenic	397509067	RCV000048197; RCV000077549;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244109	41244112	NM_007294.3:c.3436_3439delTGTT	NP_009225.1:p.Cys1146Leufs	NC_000017.10:g.41244109_41244112delAACA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3437G>C (p.Cys1146Ser)	672	BRCA1	Uncertain significance	80357247	RCV000048198; RCV000112098;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244111	41244111	NM_007294.3:c.3437G>C	NP_009225.1:p.Cys1146Ser	NC_000017.10:g.41244111C>G,NC_000017.10:g.41244111C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3432G>T (p.Gln1144His)	672	BRCA1	Uncertain significance	80356922	RCV000048196; RCV000112097;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244116	41244116	NM_007294.3:c.3432G>T	NP_009225.1:p.Gln1144His	NC_000017.10:g.41244116C>A,NC_000017.10:g.41244116C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3430C>T (p.Gln1144Ter)	672	BRCA1	Pathogenic	80357369	RCV000048195; RCV000112096;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244118	41244118	NM_007294.3:c.3430C>T	NP_009225.1:p.Gln1144Ter	NC_000017.10:g.41244118G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3428C>T (p.Ser1143Phe)	672	BRCA1	Uncertain significance	80357434	RCV000048192; RCV000112095;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244120	41244120	NM_007294.3:c.3428C>T	NP_009225.1:p.Ser1143Phe	NC_000017.10:g.41244120G>A,NC_000017.10:g.41244120G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3428delCinsTA (p.Ser1143Leufs)	672	BRCA1	not provided	397509066	RCV000048193;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244120	41244120	NM_007294.3:c.3428delCinsTA	NP_009225.1:p.Ser1143Leufs	NC_000017.10:g.41244120delGinsTA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3426A>G (p.Ala1142=)	672	BRCA1	Uncertain significance	80356843	RCV000048191; RCV000112094;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244122	41244122	NM_007294.3:c.3426A>G	NP_009225.1:p.Ala1142=	NC_000017.10:g.41244122T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3424G>C (p.Ala1142Pro)	672	BRCA1	Pathogenic;Uncertain significance	80357101	RCV000048190; RCV000077548; RCV000221866;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244124	41244124	NM_007294.3:c.3424G>C	NP_009225.1:p.Ala1142Pro	NC_000017.10:g.41244124C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3418_3420delAGT (p.Ser1140del)	672	BRCA1	Likely benign;Uncertain significance	80358337	RCV000048188; RCV000112093; RCV000203658; RCV000131331;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244128	41244130	NM_007294.3:c.3418_3420delAGT	NP_009225.1:p.Ser1140del	NC_000017.10:g.41244128_41244130delACT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3420dupT (p.His1141Serfs)	672	BRCA1	not provided	397509065	RCV000048189;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244128	41244128	NM_007294.3:c.3420dupT	NP_009225.1:p.His1141Serfs	NC_000017.10:g.41244128dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly)	672	BRCA1	Benign	2227945	RCV000157733; RCV000112092; RCV000048187; RCV000034741; RCV000120277; RCV000162594;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41244130	41244130	NM_007294.3:c.3418A>G	NP_009225.1:p.Ser1140Gly	NC_000017.10:g.41244130T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00009	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.3417delT (p.Ser1139Argfs)	672	BRCA1	Pathogenic	273899706	RCV000048186; RCV000112091;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244131	41244131	NM_007294.3:c.3417delT	NP_009225.1:p.Ser1139Argfs	NC_000017.10:g.41244131delA	Breast Cancer Information Core (BRCA1):3536&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3416G>T (p.Ser1139Ile)	672	BRCA1	Uncertain significance	80357228	RCV000048184; RCV000112090; RCV000132045;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244132	41244132	NM_007294.3:c.3416G>T	NP_009225.1:p.Ser1139Ile	NC_000017.10:g.41244132C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3416delG (p.Ser1139Ilefs)	672	BRCA1	not provided	397509064	RCV000048185;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244132	41244132	NM_007294.3:c.3416delG	NP_009225.1:p.Ser1139Ilefs	NC_000017.10:g.41244132delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3413delG (p.Gly1138Glufs)	672	BRCA1	not provided	397509063	RCV000048183;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244135	41244135	NM_007294.3:c.3413delG	NP_009225.1:p.Gly1138Glufs	NC_000017.10:g.41244135delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3410T>C (p.Met1137Thr)	672	BRCA1	Likely benign;Uncertain significance	80357297	RCV000048182; RCV000112089; RCV000212173;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41244138	41244138	NM_007294.3:c.3410T>C	NP_009225.1:p.Met1137Thr	NC_000017.10:g.41244138A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.3407C>G (p.Pro1136Arg)	672	BRCA1	Uncertain significance	80357329	RCV000048180; RCV000112088; RCV000165960;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244141	41244141	NM_007294.3:c.3407C>G	NP_009225.1:p.Pro1136Arg	NC_000017.10:g.41244141G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3403C>T (p.Gln1135Ter)	672	BRCA1	Pathogenic	80357136	RCV000048179; RCV000077547;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244145	41244145	NM_007294.3:c.3403C>T	NP_009225.1:p.Gln1135Ter	NC_000017.10:g.41244145G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3400G>T (p.Glu1134Ter)	672	BRCA1	Pathogenic	80357018	RCV000048178; RCV000031110; RCV000203638;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244148	41244148	NM_007294.3:c.3400G>T	NP_009225.1:p.Glu1134Ter	NC_000017.10:g.41244148C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.3397_3398delTT (p.Leu1133Argfs)	672	BRCA1	Pathogenic	80357577	RCV000048175; RCV000112085;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244150	41244151	NM_007294.3:c.3397_3398delTT	NP_009225.1:p.Leu1133Argfs	NC_000017.10:g.41244150_41244151delAA	Breast Cancer Information Core (BRCA1):3516&base_change=del TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3398T>A (p.Leu1133Ter)	672	BRCA1	Pathogenic	80356971	RCV000048176; RCV000112086;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244150	41244150	NM_007294.3:c.3398T>A	NP_009225.1:p.Leu1133Ter	NC_000017.10:g.41244150A>C,NC_000017.10:g.41244150A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3398T>G (p.Leu1133Ter)	672	BRCA1	Pathogenic	80356971	RCV000048177; RCV000162045;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244150	41244150	NM_007294.3:c.3398T>G	NP_009225.1:p.Leu1133Ter	NC_000017.10:g.41244150A>C,NC_000017.10:g.41244150A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3390delA (p.Asp1131Ilefs)	672	BRCA1	Pathogenic	80357900	RCV000048174; RCV000077546;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244158	41244158	NM_007294.3:c.3390delA	NP_009225.1:p.Asp1131Ilefs	NC_000017.10:g.41244158delT	Breast Cancer Information Core (BRCA1):3509&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3389C>G (p.Ser1130Ter)	672	BRCA1	Pathogenic	80357405	RCV000048173; RCV000031109;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244159	41244159	NM_007294.3:c.3389C>G	NP_009225.1:p.Ser1130Ter	NC_000017.10:g.41244159G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3377C>T (p.Pro1126Leu)	672	BRCA1	Uncertain significance	80356887	RCV000048171; RCV000112083; RCV000166384;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244171	41244171	NM_007294.3:c.3377C>T	NP_009225.1:p.Pro1126Leu	NC_000017.10:g.41244171G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3377delC (p.Pro1126Hisfs)	672	BRCA1	not provided	397509061	RCV000048172;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244171	41244171	NM_007294.3:c.3377delC	NP_009225.1:p.Pro1126Hisfs	NC_000017.10:g.41244171delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3375_3376delTC (p.Pro1126Ilefs)	672	BRCA1	Pathogenic	80357828	RCV000048170; RCV000112082;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244172	41244173	NM_007294.3:c.3375_3376delTC	NP_009225.1:p.Pro1126Ilefs	NC_000017.10:g.41244172_41244173delGA	Breast Cancer Information Core (BRCA1):3494&base_change=del TC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3365_3366delCA (p.Thr1122Argfs)	672	BRCA1	Pathogenic	80357892	RCV000048168; RCV000112081; RCV000162863;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244182	41244183	NM_007294.3:c.3365_3366delCA	NP_009225.1:p.Thr1122Argfs	NC_000017.10:g.41244182_41244183delTG	Breast Cancer Information Core (BRCA1):3484&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3359_3363delTTAAT (p.Val1120Aspfs)	672	BRCA1	not provided	397509060	RCV000048165;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244185	41244189	NM_007294.3:c.3359_3363delTTAAT	NP_009225.1:p.Val1120Aspfs	NC_000017.10:g.41244185_41244189delATTAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3362A>G (p.Asn1121Ser)	672	BRCA1	Benign;Uncertain significance	80356919	RCV000048166; RCV000031108;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244186	41244186	NM_007294.3:c.3362A>G	NP_009225.1:p.Asn1121Ser	NC_000017.10:g.41244186T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3362delA (p.Asn1121Ilefs)	672	BRCA1	Pathogenic	80357865	RCV000048167; RCV000112080;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244186	41244186	NM_007294.3:c.3362delA	NP_009225.1:p.Asn1121Ilefs	NC_000017.10:g.41244186delT	Breast Cancer Information Core (BRCA1):3481&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3359_3360delTT (p.Val1120Glufs)	672	BRCA1	Pathogenic	80357843	RCV000048164; RCV000077544; RCV000220196;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244188	41244189	NM_007294.3:c.3359_3360delTT	NP_009225.1:p.Val1120Glufs	NC_000017.10:g.41244188_41244189delAA	Breast Cancer Information Core (BRCA1):3478&base_change=del TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3358_3359delGT (p.Val1120Terfs)	672	BRCA1	Pathogenic	80357945	RCV000048163; RCV000031107; RCV000218890;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244189	41244190	NM_007294.3:c.3358_3359delGT	NP_009225.1:p.Val1120Terfs	NC_000017.10:g.41244189_41244190delAC	Breast Cancer Information Core (BRCA1):3477&base_change=del GT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3354_3355delGA (p.Gln1118Hisfs)	672	BRCA1	not provided	397509059	RCV000048161;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244193	41244194	NM_007294.3:c.3354_3355delGA	NP_009225.1:p.Gln1118Hisfs	NC_000017.10:g.41244193_41244194delTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3355A>T (p.Thr1119Ser)	672	BRCA1	Uncertain significance	80356949	RCV000048162; RCV000112078; RCV000129260;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244193	41244193	NM_007294.3:c.3355A>T	NP_009225.1:p.Thr1119Ser	NC_000017.10:g.41244193T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3354G>T (p.Gln1118His)	672	BRCA1	Uncertain significance	80357334	RCV000048160; RCV000031106; RCV000164761;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244194	41244194	NM_007294.3:c.3354G>T	NP_009225.1:p.Gln1118His	NC_000017.10:g.41244194C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3344_3346delAAG (p.Glu1115del)	672	BRCA1	Uncertain significance	80358336	RCV000048158; RCV000112075; RCV000129777;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244202	41244204	NM_007294.3:c.3344_3346delAAG	NP_009225.1:p.Glu1115del	NC_000017.10:g.41244202_41244204delCTT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3346G>C (p.Val1116Leu)	672	BRCA1	Uncertain significance	55909400	RCV000048159; RCV000112076; RCV000218827;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244202	41244202	NM_007294.3:c.3346G>C	NP_009225.1:p.Val1116Leu	NC_000017.10:g.41244202C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3342_3345delAGAA (p.Glu1115Terfs)	672	BRCA1	Pathogenic;Uncertain significance	397509058	RCV000048156; RCV000077543;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244203	41244206	NM_007294.3:c.3342_3345delAGAA	NP_009225.1:p.Glu1115Terfs	NC_000017.10:g.41244203_41244206delTTCT	Breast Cancer Information Core (BRCA1):3461&base_change=del AGAA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3343delG (p.Glu1115Lysfs)	672	BRCA1	Pathogenic	273899705	RCV000048157; RCV000112074;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244205	41244205	NM_007294.3:c.3343delG	NP_009225.1:p.Glu1115Lysfs	NC_000017.10:g.41244205delC	Breast Cancer Information Core (BRCA1):3462&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3340G>T (p.Glu1114Ter)	672	BRCA1	Pathogenic	80357278	RCV000048155; RCV000112073;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244208	41244208	NM_007294.3:c.3340G>T	NP_009225.1:p.Glu1114Ter	NC_000017.10:g.41244208C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3339T>G (p.Tyr1113Ter)	672	BRCA1	Pathogenic	80357421	RCV000048154; RCV000112072;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244209	41244209	NM_007294.3:c.3339T>G	NP_009225.1:p.Tyr1113Ter	NC_000017.10:g.41244209A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3333_3336delAGAA (p.Gln1111Hisfs)	672	BRCA1	not provided	397509057	RCV000048152;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244212	41244215	NM_007294.3:c.3333_3336delAGAA	NP_009225.1:p.Gln1111Hisfs	NC_000017.10:g.41244212_41244215delTTCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3331_3334delCAAG (p.Gln1111Asnfs)	672	BRCA1	Pathogenic	80357701	RCV000048151; RCV000031104; RCV000195363; RCV000131812;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244214	41244217	NM_007294.3:c.3331_3334delCAAG	NP_009225.1:p.Gln1111Asnfs	NC_000017.10:g.41244214_41244217delCTTG	Breast Cancer Information Core (BRCA1):3447&base_change=del AAGC,Breast Cancer Information Core (BRCA1):3448&base_change=del AGCA,Breast Cancer Informa	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3333delA (p.Glu1112Asnfs)	672	BRCA1	Pathogenic	80357966	RCV000048153; RCV000112071; RCV000222426;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244215	41244215	NM_007294.3:c.3333delA	NP_009225.1:p.Glu1112Asnfs	NC_000017.10:g.41244215delT	Breast Cancer Information Core (BRCA1):3452&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3329_3330delAG (p.Lys1110Thrfs)	672	BRCA1	Pathogenic	80357525	RCV000048146; RCV000077542;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244218	41244219	NM_007294.3:c.3329_3330delAG	NP_009225.1:p.Lys1110Thrfs	NC_000017.10:g.41244218_41244219delCT	Breast Cancer Information Core (BRCA1):3448&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3325_3329delAAAAA (p.Lys1109Alafs)	672	BRCA1	Pathogenic	80357680	RCV000048143; RCV000112061;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244219	41244223	NM_007294.3:c.3325_3329delAAAAA	NP_009225.1:p.Lys1109Alafs	NC_000017.10:g.41244219_41244223delTTTTT	Breast Cancer Information Core (BRCA1):3444&base_change=del AAAAA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3326_3329delAAAA (p.Lys1109Serfs)	672	BRCA1	Pathogenic	80357575	RCV000048144; RCV000112062;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244219	41244222	NM_007294.3:c.3326_3329delAAAA	NP_009225.1:p.Lys1109Serfs	NC_000017.10:g.41244219_41244222delTTTT	Breast Cancer Information Core (BRCA1):3445&base_change=del AAAA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3329delA (p.Lys1110Serfs)	672	BRCA1	not provided	397509056	RCV000048147;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244219	41244219	NM_007294.3:c.3329delA	NP_009225.1:p.Lys1110Serfs	NC_000017.10:g.41244219delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3329dupA (p.Gln1111Alafs)	672	BRCA1	Pathogenic	80357692	RCV000048148; RCV000112067; RCV000166572;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244219	41244219	NM_007294.3:c.3329dupA	NP_009225.1:p.Gln1111Alafs	NC_000017.10:g.41244219dupT	Breast Cancer Information Core (BRCA1):3448&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3327_3329delAAA (p.Lys1110del)	672	BRCA1	Likely benign;Uncertain significance	80358334	RCV000159916; RCV000112064; RCV000206449; RCV000129448;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244219	41244221	NM_007294.3:c.3327_3329delAAA	NP_009225.1:p.Lys1110del	NC_000017.10:g.41244219_41244221delTTT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3323_3326delTAAA (p.Ile1108Lysfs)	672	BRCA1	Pathogenic	80357763	RCV000048142; RCV000112059;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244222	41244225	NM_007294.3:c.3323_3326delTAAA	NP_009225.1:p.Ile1108Lysfs	NC_000017.10:g.41244222_41244225delTTTA	Breast Cancer Information Core (BRCA1):3439&base_change=del AAAT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3319G>T (p.Glu1107Ter)	672	BRCA1	Pathogenic	80357106	RCV000048141; RCV000112058;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244229	41244229	NM_007294.3:c.3319G>T	NP_009225.1:p.Glu1107Ter	NC_000017.10:g.41244229C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3314delA (p.His1105Leufs)	672	BRCA1	not provided	397509054	RCV000048140;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244234	41244234	NM_007294.3:c.3314delA	NP_009225.1:p.His1105Leufs	NC_000017.10:g.41244234delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3313C>A (p.His1105Asn)	672	BRCA1	Uncertain significance	80357288	RCV000048139; RCV000112057;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244235	41244235	NM_007294.3:c.3313C>A	NP_009225.1:p.His1105Asn	NC_000017.10:g.41244235G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3309T>A (p.Cys1103Ter)	672	BRCA1	Pathogenic	80357317	RCV000048138; RCV000112056;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244239	41244239	NM_007294.3:c.3309T>A	NP_009225.1:p.Cys1103Ter	NC_000017.10:g.41244239A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3308G>T (p.Cys1103Phe)	672	BRCA1	Uncertain significance	80357135	RCV000048137; RCV000112055;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244240	41244240	NM_007294.3:c.3308G>T	NP_009225.1:p.Cys1103Phe	NC_000017.10:g.41244240C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3305A>G (p.Asn1102Ser)	672	BRCA1	Uncertain significance	80356900	RCV000048136; RCV000112054; RCV000214206;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244243	41244243	NM_007294.3:c.3305A>G	NP_009225.1:p.Asn1102Ser	NC_000017.10:g.41244243T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn)	672	BRCA1	Benign	41293447	RCV000048135; RCV000112053; RCV000167784; RCV000168500; RCV000131159;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41244246	41244246	NM_007294.3:c.3302G>A	NP_009225.1:p.Ser1101Asn	NC_000017.10:g.41244246C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00077	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.3296delC (p.Pro1099Leufs)	672	BRCA1	Pathogenic	80357815	RCV000048129; RCV000112052;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244252	41244252	NM_007294.3:c.3296delC	NP_009225.1:p.Pro1099Leufs	NC_000017.10:g.41244252delG	Breast Cancer Information Core (BRCA1):3415&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3292_3293delCT (p.Leu1098Serfs)	672	BRCA1	Pathogenic	80357992	RCV000048127; RCV000112050;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244255	41244256	NM_007294.3:c.3292_3293delCT	NP_009225.1:p.Leu1098Serfs	NC_000017.10:g.41244255_41244256delAG	Breast Cancer Information Core (BRCA1):3411&base_change=del CT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3288_3289delAA (p.Leu1098Serfs)	672	BRCA1	Pathogenic	80357686	RCV000048125; RCV000112048;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244259	41244260	NM_007294.3:c.3288_3289delAA	NP_009225.1:p.Leu1098Serfs	NC_000017.10:g.41244259_41244260delTT	Breast Cancer Information Core (BRCA1):3407&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3289delA (p.Ser1097Valfs)	672	BRCA1	not provided	397509052	RCV000048126;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244259	41244259	NM_007294.3:c.3289delA	NP_009225.1:p.Ser1097Valfs	NC_000017.10:g.41244259delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3287A>G (p.Gln1096Arg)	672	BRCA1	Uncertain significance	273899704	RCV000048124; RCV000112047; RCV000166428;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244261	41244261	NM_007294.3:c.3287A>G	NP_009225.1:p.Gln1096Arg	NC_000017.10:g.41244261T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3286C>T (p.Gln1096Ter)	672	BRCA1	Pathogenic	80357485	RCV000048122; RCV000112045;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244262	41244262	NM_007294.3:c.3286C>T	NP_009225.1:p.Gln1096Ter	NC_000017.10:g.41244262G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3286delC (p.Gln1096Lysfs)	672	BRCA1	Pathogenic	80357533	RCV000048123; RCV000112046; RCV000217216;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244262	41244262	NM_007294.3:c.3286delC	NP_009225.1:p.Gln1096Lysfs	NC_000017.10:g.41244262delG	Breast Cancer Information Core (BRCA1):3405&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3285delA (p.Lys1095Asnfs)	672	BRCA1	Likely pathogenic	397509051	RCV000048121; RCV000169309;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244263	41244263	NM_007294.3:c.3285delA	NP_009225.1:p.Lys1095Asnfs	NC_000017.10:g.41244263delT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3279delC (p.Tyr1094Ilefs)	672	BRCA1	Pathogenic	397509050	RCV000048120; RCV000112043; RCV000165817;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244269	41244269	NM_007294.3:c.3279delC	NP_009225.1:p.Tyr1094Ilefs	NC_000017.10:g.41244269delG	Breast Cancer Information Core (BRCA1):3398&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3270A>T (p.Gln1090His)	672	BRCA1	Uncertain significance	369925993	RCV000159976;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244278	41244278	NM_007294.3:c.3270A>T	NP_009225.1:p.Gln1090His	NC_000017.10:g.41244278T>A,NC_000017.10:g.41244278T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3268C>T (p.Gln1090Ter)	672	BRCA1	Pathogenic	80357402	RCV000048119; RCV000112042;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244280	41244280	NM_007294.3:c.3268C>T	NP_009225.1:p.Gln1090Ter	NC_000017.10:g.41244280G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3263T>A (p.Val1088Asp)	672	BRCA1	Uncertain significance	80356901	RCV000048118; RCV000112041;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244285	41244285	NM_007294.3:c.3263T>A	NP_009225.1:p.Val1088Asp	NC_000017.10:g.41244285A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3262delG (p.Val1088Phefs)	672	BRCA1	not provided	397509049	RCV000048117;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244286	41244286	NM_007294.3:c.3262delG	NP_009225.1:p.Val1088Phefs	NC_000017.10:g.41244286delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3260G>C (p.Gly1087Ala)	672	BRCA1	Uncertain significance	80357172	RCV000048116; RCV000112040; RCV000212172; RCV000130262;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41244288	41244288	NM_007294.3:c.3260G>C	NP_009225.1:p.Gly1087Ala	NC_000017.10:g.41244288C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.3257T>A (p.Leu1086Ter)	672	BRCA1	Pathogenic	80357006	RCV000048112; RCV000112037;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244291	41244291	NM_007294.3:c.3257T>A	NP_009225.1:p.Leu1086Ter	NC_000017.10:g.41244291A>C,NC_000017.10:g.41244291A>G,NC_000017.10:g.41244291A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3257T>C (p.Leu1086Ser)	672	BRCA1	Uncertain significance	80357006	RCV000048113; RCV000112038;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244291	41244291	NM_007294.3:c.3257T>C	NP_009225.1:p.Leu1086Ser	NC_000017.10:g.41244291A>C,NC_000017.10:g.41244291A>G,NC_000017.10:g.41244291A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3257dupT (p.Leu1086Phefs)	672	BRCA1	Pathogenic	80357858	RCV000048115; RCV000112039;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244291	41244291	NM_007294.3:c.3257dupT	NP_009225.1:p.Leu1086Phefs	NC_000017.10:g.41244291dupA	Breast Cancer Information Core (BRCA1):3376&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3254_3255dupGA (p.Leu1086Aspfs)	672	BRCA1	Pathogenic	80357624	RCV000048110; RCV000143832;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244293	41244294	NM_007294.3:c.3254_3255dupGA	NP_009225.1:p.Leu1086Aspfs	NC_000017.10:g.41244293_41244294dupTC,NC_000017.10:g.41244293dupT	Breast Cancer Information Core (BRCA1):3374&base_change=ins GA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3255dupA (p.Leu1086Ilefs)	672	BRCA1	Pathogenic	80357624	RCV000048111; RCV000112035;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244293	41244293	NM_007294.3:c.3255dupA	NP_009225.1:p.Leu1086Ilefs	NC_000017.10:g.41244293_41244294dupTC,NC_000017.10:g.41244293dupT	Breast Cancer Information Core (BRCA1):3373&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3253dupA (p.Arg1085Lysfs)	672	BRCA1	Pathogenic	80357517	RCV000048109; RCV000077125;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244295	41244295	NM_007294.3:c.3253dupA	NP_009225.1:p.Arg1085Lysfs	NC_000017.10:g.41244295dupT	Breast Cancer Information Core (BRCA1):3372&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3239T>A (p.Leu1080Ter)	672	BRCA1	Pathogenic	80357145	RCV000048108; RCV000112034;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244309	41244309	NM_007294.3:c.3239T>A	NP_009225.1:p.Leu1080Ter	NC_000017.10:g.41244309A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3228_3229delAG (p.Gly1077Alafs)	672	BRCA1	Likely pathogenic;Pathogenic	80357635	RCV000048107; RCV000031097; RCV000162862;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244319	41244320	NM_007294.3:c.3228_3229delAG	NP_009225.1:p.Gly1077Alafs	NC_000017.10:g.41244319_41244320delCT	Breast Cancer Information Core (BRCA1):3347&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3228A>T (p.Arg1076Ser)	672	BRCA1	not provided	397509048	RCV000048106;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244320	41244320	NM_007294.3:c.3228A>T	NP_009225.1:p.Arg1076Ser	NC_000017.10:g.41244320T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3227G>C (p.Arg1076Thr)	672	BRCA1	Uncertain significance	80357313	RCV000048105; RCV000112033;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244321	41244321	NM_007294.3:c.3227G>C	NP_009225.1:p.Arg1076Thr	NC_000017.10:g.41244321C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3226delA (p.Arg1076Glufs)	672	BRCA1	Pathogenic	273899703	RCV000048104; RCV000112032;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244322	41244322	NM_007294.3:c.3226delA	NP_009225.1:p.Arg1076Glufs	NC_000017.10:g.41244322delT	Breast Cancer Information Core (BRCA1):3345&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3220A>G (p.Arg1074Gly)	672	BRCA1	Uncertain significance	80357263	RCV000048103; RCV000112031; RCV000221174;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244328	41244328	NM_007294.3:c.3220A>G	NP_009225.1:p.Arg1074Gly	NC_000017.10:g.41244328T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3214delC (p.Leu1072Terfs)	672	BRCA1	not provided	80357923	RCV000048101; RCV000112030;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244334	41244334	NM_007294.3:c.3214delC	NP_009225.1:p.Leu1072Terfs	NC_000017.10:g.41244334delG	Breast Cancer Information Core (BRCA1):3333&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3211dupG (p.Glu1071Glyfs)	672	BRCA1	not provided	397509047	RCV000048100;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244337	41244337	NM_007294.3:c.3211dupG	NP_009225.1:p.Glu1071Glyfs	NC_000017.10:g.41244337dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3193dupG (p.Asp1065Glyfs)	672	BRCA1	Pathogenic	80357511	RCV000048099; RCV000031095; RCV000216425;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244355	41244355	NM_007294.3:c.3193dupG	NP_009225.1:p.Asp1065Glyfs	NC_000017.10:g.41244355dupC	Breast Cancer Information Core (BRCA1):3312&base_change=ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3190A>T (p.Ser1064Cys)	672	BRCA1	Uncertain significance	273899702	RCV000048098; RCV000112015; RCV000166720;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244358	41244358	NM_007294.3:c.3190A>T	NP_009225.1:p.Ser1064Cys	NC_000017.10:g.41244358T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3188_3189delCCinsG (p.Ser1063Terfs)	672	BRCA1	Pathogenic	273899701	RCV000048097; RCV000112014;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244359	41244360	NM_007294.3:c.3188_3189delCCinsG	NP_009225.1:p.Ser1063Terfs	NC_000017.10:g.41244359_41244360delGGinsC	Breast Cancer Information Core (BRCA1):3307&base_change=del CC ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3183delA (p.Ile1061Metfs)	672	BRCA1	not provided	397509046	RCV000048096;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244365	41244365	NM_007294.3:c.3183delA	NP_009225.1:p.Ile1061Metfs	NC_000017.10:g.41244365delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3181delA (p.Ile1061Terfs)	672	BRCA1	Pathogenic	80357702	RCV000048095; RCV000112013;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244367	41244367	NM_007294.3:c.3181delA	NP_009225.1:p.Ile1061Terfs	NC_000017.10:g.41244367delT	Breast Cancer Information Core (BRCA1):3300&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala)	672	BRCA1	Likely benign;Uncertain significance	80357184	RCV000048093; RCV000112012; RCV000167200;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244369	41244369	NM_007294.3:c.3179A>C	NP_009225.1:p.Glu1060Ala	NC_000017.10:g.41244369T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter)	672	BRCA1	Pathogenic	80357424	RCV000048092; RCV000077540; RCV000212171;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41244370	41244370	NM_007294.3:c.3178G>T	NP_009225.1:p.Glu1060Ter	NC_000017.10:g.41244370C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007294.3(BRCA1):c.3169_3172delAGTA (p.Ser1057Leufs)	672	BRCA1	not provided	397509045	RCV000048091;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244376	41244379	NM_007294.3:c.3169_3172delAGTA	NP_009225.1:p.Ser1057Leufs	NC_000017.10:g.41244376_41244379delTACT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3169A>G (p.Ser1057Gly)	672	BRCA1	Uncertain significance	80357479	RCV000048090; RCV000077539;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244379	41244379	NM_007294.3:c.3169A>G	NP_009225.1:p.Ser1057Gly	NC_000017.10:g.41244379T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3168delC (p.Ser1057Valfs)	672	BRCA1	not provided	397509044	RCV000048089;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244380	41244380	NM_007294.3:c.3168delC	NP_009225.1:p.Ser1057Valfs	NC_000017.10:g.41244380delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3164delG (p.Gly1055Alafs)	672	BRCA1	not provided	397509043	RCV000048088;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244384	41244384	NM_007294.3:c.3164delG	NP_009225.1:p.Gly1055Alafs	NC_000017.10:g.41244384delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3157delG (p.Glu1053Lysfs)	672	BRCA1	not provided	397509041	RCV000048086;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244391	41244391	NM_007294.3:c.3157delG	NP_009225.1:p.Glu1053Lysfs	NC_000017.10:g.41244391delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3157dupG (p.Glu1053Glyfs)	672	BRCA1	not provided	397509042	RCV000048087;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244391	41244391	NM_007294.3:c.3157dupG	NP_009225.1:p.Glu1053Glyfs	NC_000017.10:g.41244391dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3155delA (p.Asn1052Metfs)	672	BRCA1	not provided	397509040	RCV000048085;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244393	41244393	NM_007294.3:c.3155delA	NP_009225.1:p.Asn1052Metfs	NC_000017.10:g.41244393delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3152C>G (p.Thr1051Ser)	672	BRCA1	not provided	397509039	RCV000048084;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244396	41244396	NM_007294.3:c.3152C>G	NP_009225.1:p.Thr1051Ser	NC_000017.10:g.41244396G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3145delT (p.Ser1049Profs)	672	BRCA1	not provided	397509038	RCV000048082;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244403	41244403	NM_007294.3:c.3145delT	NP_009225.1:p.Ser1049Profs	NC_000017.10:g.41244403delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3144T>C (p.Gly1048=)	672	BRCA1	Uncertain significance	80356837	RCV000048081; RCV000112010;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244404	41244404	NM_007294.3:c.3144T>C	NP_009225.1:p.Gly1048=	NC_000017.10:g.41244404A>G	Breast Cancer Information Core (BRCA1):3263&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3143G>A (p.Gly1048Asp)	672	BRCA1	Uncertain significance	80356899	RCV000048079; RCV000112008; RCV000129517;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244405	41244405	NM_007294.3:c.3143G>A	NP_009225.1:p.Gly1048Asp	NC_000017.10:g.41244405C>A,NC_000017.10:g.41244405C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3143G>T (p.Gly1048Val)	672	BRCA1	Uncertain significance	80356899	RCV000048080; RCV000112009; RCV000214911; RCV000212170;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	41244405	41244405	NM_007294.3:c.3143G>T	NP_009225.1:p.Gly1048Val	NC_000017.10:g.41244405C>A,NC_000017.10:g.41244405C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3140T>C (p.Val1047Ala)	672	BRCA1	not provided	397509037	RCV000048078;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244408	41244408	NM_007294.3:c.3140T>C	NP_009225.1:p.Val1047Ala	NC_000017.10:g.41244408A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3129_3138delTATTAATGAA (p.Asn1043Lysfs)	672	BRCA1	Pathogenic	730881462	RCV000159915;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244410	41244419	NM_007294.3:c.3129_3138delTATTAATGAA	NP_009225.1:p.Asn1043Lysfs	NC_000017.10:g.41244410_41244419delTTCATTAATA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3125_3134delGCAATATTAA (p.Ser1042Metfs)	672	BRCA1	not provided	397509036	RCV000048076;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244414	41244423	NM_007294.3:c.3125_3134delGCAATATTAA	NP_009225.1:p.Ser1042Metfs	NC_000017.10:g.41244414_41244423delTTAATATTGC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3122C>G (p.Ser1041Ter)	672	BRCA1	not provided	397509035	RCV000048075;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244426	41244426	NM_007294.3:c.3122C>G	NP_009225.1:p.Ser1041Ter	NC_000017.10:g.41244426G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly)	672	BRCA1	Benign	16941	RCV000114987; RCV000112006; RCV000034738; RCV000120276; RCV000128978;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41244435	41244435	NM_007294.3:c.3113A>G	NP_009225.1:p.Glu1038Gly	NC_000017.10:g.41244435T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00008,HGMD:CM032861	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.3112G>T (p.Glu1038Ter)	672	BRCA1	Pathogenic	80357161	RCV000048073; RCV000031090; RCV000131907;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244436	41244436	NM_007294.3:c.3112G>T	NP_009225.1:p.Glu1038Ter	NC_000017.10:g.41244436C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3107_3112delTTAAAG (p.Phe1036_Cys1372delinsTer)	672	BRCA1	Pathogenic	80357920	RCV000048070; RCV000111999;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244436	41244441	NM_007294.3:c.3107_3112delTTAAAG	NP_009225.1:p.Phe1036_Cys1372delinsTer	NC_000017.10:g.41244436_41244441delCTTTAA	Breast Cancer Information Core (BRCA1):3226&base_change=del TTAAAG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3108delT (p.Phe1036Leufs)	672	BRCA1	Pathogenic	80357841	RCV000048071; RCV000112000;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244440	41244440	NM_007294.3:c.3108delT	NP_009225.1:p.Phe1036Leufs	NC_000017.10:g.41244440delA	Breast Cancer Information Core (BRCA1):3227&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3108dupT (p.Lys1037Terfs)	672	BRCA1	Pathogenic	273899699	RCV000048072; RCV000031089; RCV000130035;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244440	41244440	NM_007294.3:c.3108dupT	NP_009225.1:p.Lys1037Terfs	NC_000017.10:g.41244440dupA	Breast Cancer Information Core (BRCA1):3223&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3097G>T (p.Glu1033Ter)	672	BRCA1	Pathogenic	273899698	RCV000048069; RCV000077538; RCV000216019;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244451	41244451	NM_007294.3:c.3097G>T	NP_009225.1:p.Glu1033Ter	NC_000017.10:g.41244451C>A,NC_000017.10:g.41244451C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His)	672	BRCA1	Benign	80357459	RCV000074579; RCV000031088; RCV000048067; RCV000120292; RCV000129147;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41244465	41244465	NM_007294.3:c.3083G>A	NP_009225.1:p.Arg1028His	NC_000017.10:g.41244465C>A,NC_000017.10:g.41244465C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00075	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.3082C>T (p.Arg1028Cys)	672	BRCA1	Likely benign;Uncertain significance	80357049	RCV000048066; RCV000031087; RCV000165900;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244466	41244466	NM_007294.3:c.3082C>T	NP_009225.1:p.Arg1028Cys	NC_000017.10:g.41244466G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3080G>A (p.Ser1027Asn)	672	BRCA1	Uncertain significance	80357386	RCV000048065; RCV000111995;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244468	41244468	NM_007294.3:c.3080G>A	NP_009225.1:p.Ser1027Asn	NC_000017.10:g.41244468C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3074C>T (p.Thr1025Ile)	672	BRCA1	not provided	397509034	RCV000048064;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244474	41244474	NM_007294.3:c.3074C>T	NP_009225.1:p.Thr1025Ile	NC_000017.10:g.41244474G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3072C>G (p.Ser1024Arg)	672	BRCA1	not provided	397509033	RCV000048063;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244476	41244476	NM_007294.3:c.3072C>G	NP_009225.1:p.Ser1024Arg	NC_000017.10:g.41244476G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3055A>G (p.Ile1019Val)	672	BRCA1	Likely benign;Uncertain significance	80357311	RCV000048061; RCV000031085; RCV000132486;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244493	41244493	NM_007294.3:c.3055A>G	NP_009225.1:p.Ile1019Val	NC_000017.10:g.41244493T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3048_3052dupTGAGA (p.Asn1018Metfs)	672	BRCA1	Pathogenic	80357856	RCV000159913; RCV000019262; RCV000048059; RCV000131332;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244496	41244500	NM_007294.3:c.3047_3048insTGAGA	NP_009225.1:p.Asn1018Metfs		Breast Cancer Information Core (BRCA1):3166&base_change=ins TGAGA,Breast Cancer Information Core (BRCA1):3171&base_change=ins TGAGA,OMIM Allelic Varian	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3049G>T (p.Glu1017Ter)	672	BRCA1	Pathogenic	80357004	RCV000048060; RCV000111993;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244499	41244499	NM_007294.3:c.3049G>T	NP_009225.1:p.Glu1017Ter	NC_000017.10:g.41244499C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3046A>G (p.Asn1016Asp)	672	BRCA1	Uncertain significance	80357154	RCV000048058; RCV000111991; RCV000131933;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244502	41244502	NM_007294.3:c.3046A>G	NP_009225.1:p.Asn1016Asp	NC_000017.10:g.41244502T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3041T>A (p.Met1014Lys)	672	BRCA1	Uncertain significance	80357020	RCV000048057; RCV000111989; RCV000129436;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244507	41244507	NM_007294.3:c.3041T>A	NP_009225.1:p.Met1014Lys	NC_000017.10:g.41244507A>G,NC_000017.10:g.41244507A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3040A>G (p.Met1014Val)	672	BRCA1	Uncertain significance	80356933	RCV000048055; RCV000111987;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244508	41244508	NM_007294.3:c.3040A>G	NP_009225.1:p.Met1014Val	NC_000017.10:g.41244508T>A,NC_000017.10:g.41244508T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3040A>T (p.Met1014Leu)	672	BRCA1	Uncertain significance	80356933	RCV000048056; RCV000111988;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244508	41244508	NM_007294.3:c.3040A>T	NP_009225.1:p.Met1014Leu	NC_000017.10:g.41244508T>A,NC_000017.10:g.41244508T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3029_3030delCT (p.Pro1010Argfs)	672	BRCA1	Pathogenic	80357510	RCV000048053; RCV000077536; RCV000131906;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244518	41244519	NM_007294.3:c.3029_3030delCT	NP_009225.1:p.Pro1010Argfs	NC_000017.10:g.41244518_41244519delAG	Breast Cancer Information Core (BRCA1):3148&base_change=del CT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3026C>A (p.Ser1009Ter)	672	BRCA1	Pathogenic	273899696	RCV000048052; RCV000111985;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244522	41244522	NM_007294.3:c.3026C>A	NP_009225.1:p.Ser1009Ter	NC_000017.10:g.41244522G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile)	672	BRCA1	Benign	1800704	RCV000157731; RCV000077535; RCV000048051; RCV000034737; RCV000120291; RCV000162535;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41244524	41244524	NM_007294.3:c.3024G>A	NP_009225.1:p.Met1008Ile	NC_000017.10:g.41244524C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00020,Institute for Bi	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.3018_3021delTTCA (p.His1006Glnfs)	672	BRCA1	Pathogenic	80357749	RCV000048042; RCV000111982;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244527	41244530	NM_007294.3:c.3018_3021delTTCA	NP_009225.1:p.His1006Glnfs	NC_000017.10:g.41244527_41244530delTGAA	Breast Cancer Information Core (BRCA1):3135&base_change=del CATT,Breast Cancer Information Core (BRCA1):3137&base_change=del TTCA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3020C>G (p.Ser1007Ter)	672	BRCA1	Pathogenic	80357168	RCV000048049; RCV000111983;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244528	41244528	NM_007294.3:c.3020C>G	NP_009225.1:p.Ser1007Ter	NC_000017.10:g.41244528G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3013delG (p.Glu1005Asnfs)	672	BRCA1	Pathogenic	80357937	RCV000048041; RCV000077533; RCV000213487;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244535	41244535	NM_007294.3:c.3013delG	NP_009225.1:p.Glu1005Asnfs	NC_000017.10:g.41244535delC	Breast Cancer Information Core (BRCA1):3132&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.3008_3009delTT (p.Phe1003Terfs)	672	BRCA1	Pathogenic	80357617	RCV000048040; RCV000077532; RCV000131913;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244539	41244540	NM_007294.3:c.3008_3009delTT	NP_009225.1:p.Phe1003Terfs	NC_000017.10:g.41244539_41244540delAA	Breast Cancer Information Core (BRCA1):3127&base_change=del TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.3005delA (p.Asn1002Thrfs)	672	BRCA1	Pathogenic	80357601	RCV000159912; RCV000019238; RCV000048039; RCV000163096;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244543	41244543	NM_007294.3:c.3005delA	NP_009225.1:p.Asn1002Thrfs	NC_000017.10:g.41244543delT	Breast Cancer Information Core (BRCA1):3121&base_change=del A,Breast Cancer Information Core (BRCA1):3124&base_change=del A,OMIM Allelic Variant:113705	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2998G>A (p.Glu1000Lys)	672	BRCA1	Uncertain significance	80357124	RCV000048034; RCV000111977; RCV000131313;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244550	41244550	NM_007294.3:c.2998G>A	NP_009225.1:p.Glu1000Lys	NC_000017.10:g.41244550C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2995_2996delCTinsTA (p.Leu999Ter)	672	BRCA1	Pathogenic	273899692	RCV000159910; RCV000111976; RCV000164626;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244552	41244553	NM_007294.3:c.2995_2996delCTinsTA	NP_009225.1:p.Leu999Ter	NC_000017.10:g.41244552_41244553delAGinsTA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2995C>T (p.Leu999=)	672	BRCA1	Uncertain significance	80356848	RCV000048032; RCV000111975;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244553	41244553	NM_007294.3:c.2995C>T	NP_009225.1:p.Leu999=	NC_000017.10:g.41244553G>A,NC_000017.10:g.41244553G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2995C>A (p.Leu999Ile)	672	BRCA1	not provided	80356848	RCV000048033;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244553	41244553	NM_007294.3:c.2995C>A	NP_009225.1:p.Leu999Ile	NC_000017.10:g.41244553G>A,NC_000017.10:g.41244553G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2974_2990del17 (p.Thr992Serfs)	672	BRCA1	not provided	397509031	RCV000048028;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244558	41244574	NM_007294.3:c.2974_2990del17	NP_009225.1:p.Thr992Serfs	NC_000017.10:g.41244558_41244574del17	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2989_2990dupAA (p.Asn997Lysfs)	672	BRCA1	Pathogenic	80357829	RCV000048030; RCV000143831; RCV000164310;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244558	41244559	NM_007294.3:c.2989_2990dupAA	NP_009225.1:p.Asn997Lysfs	NC_000017.10:g.41244558_41244559dupTT	Breast Cancer Information Core (BRCA1):3109&base_change=ins AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2990delA (p.Asn997Ilefs)	672	BRCA1	not provided	397509032	RCV000048031;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244558	41244558	NM_007294.3:c.2990delA	NP_009225.1:p.Asn997Ilefs	NC_000017.10:g.41244558delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2980delT (p.Cys994Valfs)	672	BRCA1	Pathogenic	80357502	RCV000048029; RCV000111974;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244568	41244568	NM_007294.3:c.2980delT	NP_009225.1:p.Cys994Valfs	NC_000017.10:g.41244568delA	Breast Cancer Information Core (BRCA1):3099&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2973_2979delAACTAAA (p.Lys991Asnfs)	672	BRCA1	Pathogenic	397509030	RCV000048027; RCV000223360;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244569	41244575	NM_007294.3:c.2973_2979delAACTAAA	NP_009225.1:p.Lys991Asnfs	NC_000017.10:g.41244569_41244575delTTTAGTT	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2968G>A (p.Val990Ile)	672	BRCA1	Uncertain significance	397509029	RCV000048026; RCV000164583;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244580	41244580	NM_007294.3:c.2968G>A	NP_009225.1:p.Val990Ile	NC_000017.10:g.41244580C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2967delT (p.Phe989Leufs)	672	BRCA1	not provided	397509028	RCV000048025;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244581	41244581	NM_007294.3:c.2967delT	NP_009225.1:p.Phe989Leufs	NC_000017.10:g.41244581delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2963C>A (p.Ser988Ter)	672	BRCA1	Pathogenic	397507206	RCV000048024; RCV000166800;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244585	41244585	NM_007294.3:c.2963C>A	NP_009225.1:p.Ser988Ter	NC_000017.10:g.41244585G>A,NC_000017.10:g.41244585G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2955delC (p.Ile986Serfs)	672	BRCA1	Pathogenic	397509027	RCV000048023; RCV000083192;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244593	41244593	NM_007294.3:c.2955delC	NP_009225.1:p.Ile986Serfs	NC_000017.10:g.41244593delG	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2952delT (p.Ile986Serfs)	672	BRCA1	Pathogenic	80357627	RCV000048021; RCV000111971;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244596	41244596	NM_007294.3:c.2952delT	NP_009225.1:p.Ile986Serfs	NC_000017.10:g.41244596delA	Breast Cancer Information Core (BRCA1):3071&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2952dupT (p.Pro985Serfs)	672	BRCA1	not provided	397509026	RCV000048022;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244596	41244596	NM_007294.3:c.2952dupT	NP_009225.1:p.Pro985Serfs	NC_000017.10:g.41244596dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2945delC (p.Pro982Hisfs)	672	BRCA1	Pathogenic	730881461	RCV000159909;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244603	41244603	NM_007294.3:c.2945delC	NP_009225.1:p.Pro982Hisfs	NC_000017.10:g.41244603delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2938delA (p.Ile980Tyrfs)	672	BRCA1	Pathogenic	730881439	RCV000159843;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244610	41244610	NM_007294.3:c.2938delA	NP_009225.1:p.Ile980Tyrfs	NC_000017.10:g.41244610delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2936G>A (p.Arg979His)	672	BRCA1	Likely benign;Uncertain significance	80356985	RCV000048020; RCV000111970; RCV000216248;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244612	41244612	NM_007294.3:c.2936G>A	NP_009225.1:p.Arg979His	NC_000017.10:g.41244612C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2935C>T (p.Arg979Cys)	672	BRCA1	Likely benign;Uncertain significance	80356970	RCV000048019; RCV000077531; RCV000130686;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244613	41244613	NM_007294.3:c.2935C>T	NP_009225.1:p.Arg979Cys	NC_000017.10:g.41244613G>A,NC_000017.10:g.41244613G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2934T>G (p.Tyr978Ter)	672	BRCA1	Pathogenic	80357115	RCV000048017; RCV000031074; RCV000195361; RCV000162860;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244614	41244614	NM_007294.3:c.2934T>G	NP_009225.1:p.Tyr978Ter	NC_000017.10:g.41244614A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2934delT (p.Arg979Valfs)	672	BRCA1	Pathogenic	80357741	RCV000048018; RCV000111969; RCV000214786;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244614	41244614	NM_007294.3:c.2934delT	NP_009225.1:p.Arg979Valfs	NC_000017.10:g.41244614delA	Breast Cancer Information Core (BRCA1):3053&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2931A>G (p.Pro977=)	672	BRCA1	Likely benign;Uncertain significance	273899691	RCV000048016; RCV000111968; RCV000165116;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244617	41244617	NM_007294.3:c.2931A>G	NP_009225.1:p.Pro977=	NC_000017.10:g.41244617T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2929_2930dupCC (p.Tyr978Hisfs)	672	BRCA1	not provided	397509025	RCV000048014;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244618	41244619	NM_007294.3:c.2929_2930dupCC	NP_009225.1:p.Tyr978Hisfs	NC_000017.10:g.41244618_41244619dupGG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2923C>T (p.Gln975Ter)	672	BRCA1	Pathogenic	80357497	RCV000048013; RCV000111967;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244625	41244625	NM_007294.3:c.2923C>T	NP_009225.1:p.Gln975Ter	NC_000017.10:g.41244625G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2922A>C (p.Leu974Phe)	672	BRCA1	Uncertain significance	730881487	RCV000159974; RCV000205367;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	17	41244626	41244626	NM_007294.3:c.2922A>C	NP_009225.1:p.Leu974Phe	NC_000017.10:g.41244626T>G	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.2920_2921delTT (p.Leu974Thrfs)	672	BRCA1	Pathogenic	80357611	RCV000048009; RCV000111964;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244627	41244628	NM_007294.3:c.2920_2921delTT	NP_009225.1:p.Leu974Thrfs	NC_000017.10:g.41244627_41244628delAA	Breast Cancer Information Core (BRCA1):3039&base_change=del TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2921T>A (p.Leu974Ter)	672	BRCA1	Pathogenic	80356872	RCV000048010; RCV000111965; RCV000131911;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244627	41244627	NM_007294.3:c.2921T>A	NP_009225.1:p.Leu974Ter	NC_000017.10:g.41244627A>G,NC_000017.10:g.41244627A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2921T>C (p.Leu974Ser)	672	BRCA1	Uncertain significance	80356872	RCV000048011; RCV000111966;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244627	41244627	NM_007294.3:c.2921T>C	NP_009225.1:p.Leu974Ser	NC_000017.10:g.41244627A>G,NC_000017.10:g.41244627A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2921dupT (p.Leu974Phefs)	672	BRCA1	not provided	397509024	RCV000048012;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244627	41244627	NM_007294.3:c.2921dupT	NP_009225.1:p.Leu974Phefs	NC_000017.10:g.41244627dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2917C>G (p.Leu973Val)	672	BRCA1	Uncertain significance	80357080	RCV000048008; RCV000083191;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244631	41244631	NM_007294.3:c.2917C>G	NP_009225.1:p.Leu973Val	NC_000017.10:g.41244631G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2915delG (p.Gly972Aspfs)	672	BRCA1	Pathogenic	80357573	RCV000048007; RCV000111963;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244633	41244633	NM_007294.3:c.2915delG	NP_009225.1:p.Gly972Aspfs	NC_000017.10:g.41244633delC	Breast Cancer Information Core (BRCA1):3034&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2914G>T (p.Gly972Ter)	672	BRCA1	not provided	397509023	RCV000048006;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244634	41244634	NM_007294.3:c.2914G>T	NP_009225.1:p.Gly972Ter	NC_000017.10:g.41244634C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2911C>A (p.His971Asn)	672	BRCA1	Uncertain significance	80357478	RCV000048005; RCV000111962;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244637	41244637	NM_007294.3:c.2911C>A	NP_009225.1:p.His971Asn	NC_000017.10:g.41244637G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2910delA (p.Lys970Asnfs)	672	BRCA1	Pathogenic	80357893	RCV000048004; RCV000111961;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244638	41244638	NM_007294.3:c.2910delA	NP_009225.1:p.Lys970Asnfs	NC_000017.10:g.41244638delT	Breast Cancer Information Core (BRCA1):3029&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2899A>T (p.Thr967Ser)	672	BRCA1	Uncertain significance	273899690	RCV000048002; RCV000111960;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244649	41244649	NM_007294.3:c.2899A>T	NP_009225.1:p.Thr967Ser	NC_000017.10:g.41244649T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2887delA (p.Thr963Leufs)	672	BRCA1	Pathogenic	80357559	RCV000048001; RCV000111957; RCV000129427;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244661	41244661	NM_007294.3:c.2887delA	NP_009225.1:p.Thr963Leufs	NC_000017.10:g.41244661delT	Breast Cancer Information Core (BRCA1):3006&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2884G>A (p.Glu962Lys)	672	BRCA1	Uncertain significance	80356955	RCV000048000; RCV000111956; RCV000213861; RCV000195390;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244664	41244664	NM_007294.3:c.2884G>A	NP_009225.1:p.Glu962Lys	NC_000017.10:g.41244664C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2879G>A (p.Gly960Asp)	672	BRCA1	not provided	397509022	RCV000047999;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244669	41244669	NM_007294.3:c.2879G>A	NP_009225.1:p.Gly960Asp	NC_000017.10:g.41244669C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2872_2876delTTCAG (p.Phe958Argfs)	672	BRCA1	not provided	397509021	RCV000047998;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244672	41244676	NM_007294.3:c.2872_2876delTTCAG	NP_009225.1:p.Phe958Argfs	NC_000017.10:g.41244672_41244676delCTGAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2872T>A (p.Phe958Ile)	672	BRCA1	Uncertain significance	80356878	RCV000047997; RCV000111955;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244676	41244676	NM_007294.3:c.2872T>A	NP_009225.1:p.Phe958Ile	NC_000017.10:g.41244676A>G,NC_000017.10:g.41244676A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2866_2870delTCTCA (p.Ser956Valfs)	672	BRCA1	Pathogenic	80357819	RCV000047993; RCV000111951; RCV000195360;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244678	41244682	NM_007294.3:c.2866_2870delTCTCA	NP_009225.1:p.Ser956Valfs	NC_000017.10:g.41244678_41244682delTGAGA	Breast Cancer Information Core (BRCA1):2982&base_change=del TCATC,Breast Cancer Information Core (BRCA1):2985&base_change=del TCTCA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.2870dupA (p.Phe958Valfs)	672	BRCA1	not provided	397509020	RCV000047996;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244678	41244678	NM_007294.3:c.2870dupA	NP_009225.1:p.Phe958Valfs	NC_000017.10:g.41244678dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2869C>T (p.Gln957Ter)	672	BRCA1	Pathogenic	80356973	RCV000047994; RCV000111953;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244679	41244679	NM_007294.3:c.2869C>T	NP_009225.1:p.Gln957Ter	NC_000017.10:g.41244679G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2864C>A (p.Ser955Ter)	672	BRCA1	Pathogenic	80357295	RCV000047992; RCV000077530; RCV000131912;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244684	41244684	NM_007294.3:c.2864C>A	NP_009225.1:p.Ser955Ter	NC_000017.10:g.41244684G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2856_2857delTT (p.Phe952Leufs)	672	BRCA1	not provided	397509019	RCV000047991;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244691	41244692	NM_007294.3:c.2856_2857delTT	NP_009225.1:p.Phe952Leufs	NC_000017.10:g.41244691_41244692delAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2844_2853delAGGCTCTAGG (p.Gly949Phefs)	672	BRCA1	not provided	397509017	RCV000047989;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244695	41244704	NM_007294.3:c.2844_2853delAGGCTCTAGG	NP_009225.1:p.Gly949Phefs	NC_000017.10:g.41244695_41244704delCCTAGAGCCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2848dupT (p.Ser950Phefs)	672	BRCA1	not provided	397509018	RCV000047990;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244700	41244700	NM_007294.3:c.2848dupT	NP_009225.1:p.Ser950Phefs	NC_000017.10:g.41244700dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2840_2841delAA (p.Lys947Argfs)	672	BRCA1	Pathogenic	80357984	RCV000047988; RCV000111949;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244707	41244708	NM_007294.3:c.2840_2841delAA	NP_009225.1:p.Lys947Argfs	NC_000017.10:g.41244707_41244708delTT	Breast Cancer Information Core (BRCA1):2959&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2834_2836delGTA (p.Ser945del)	672	BRCA1	Uncertain significance	80358332	RCV000047984; RCV000111947;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244712	41244714	NM_007294.3:c.2834_2836delGTA	NP_009225.1:p.Ser945del	NC_000017.10:g.41244712_41244714delTAC	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2834_2835delGT (p.Ser945Asnfs)	672	BRCA1	not provided	397509015	RCV000047983;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244713	41244714	NM_007294.3:c.2834_2835delGT	NP_009225.1:p.Ser945Asnfs	NC_000017.10:g.41244713_41244714delAC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2835dupT (p.Ile946Tyrfs)	672	BRCA1	Pathogenic	80357519	RCV000047986; RCV000111948; RCV000221882;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244713	41244713	NM_007294.3:c.2835dupT	NP_009225.1:p.Ile946Tyrfs	NC_000017.10:g.41244713dupA	Breast Cancer Information Core (BRCA1):2954&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2832T>A (p.Cys944Ter)	672	BRCA1	Pathogenic	80357458	RCV000047982; RCV000111946;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244716	41244716	NM_007294.3:c.2832T>A	NP_009225.1:p.Cys944Ter	NC_000017.10:g.41244716A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2830delT (p.Cys944Valfs)	672	BRCA1	not provided	397509014	RCV000047981;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244718	41244718	NM_007294.3:c.2830delT	NP_009225.1:p.Cys944Valfs	NC_000017.10:g.41244718delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2818G>T (p.Asp940Tyr)	672	BRCA1	Uncertain significance	80357077	RCV000047980; RCV000111945;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244730	41244730	NM_007294.3:c.2818G>T	NP_009225.1:p.Asp940Tyr	NC_000017.10:g.41244730C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2812_2813delCC (p.Pro938Serfs)	672	BRCA1	not provided	730882056	RCV000047977;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244735	41244736	NM_007294.3:c.2812_2813delCC	NP_009225.1:p.Pro938Serfs	NC_000017.10:g.41244735_41244736delGG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2812_2813delCCinsG (p.Pro938Glufs)	672	BRCA1	Pathogenic	273899689	RCV000047978; RCV000111943;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244735	41244736	NM_007294.3:c.2812_2813delCCinsG	NP_009225.1:p.Pro938Glufs	NC_000017.10:g.41244735_41244736delGGinsC	Breast Cancer Information Core (BRCA1):2931&base_change=del CC ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2808_2811delTAAG (p.Lys937Glnfs)	672	BRCA1	not provided	397509013	RCV000047976;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244737	41244740	NM_007294.3:c.2808_2811delTAAG	NP_009225.1:p.Lys937Glnfs	NC_000017.10:g.41244737_41244740delCTTA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2808T>G (p.Asp936Glu)	672	BRCA1	Uncertain significance	730881485	RCV000159971;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244740	41244740	NM_007294.3:c.2808T>G	NP_009225.1:p.Asp936Glu	NC_000017.10:g.41244740A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2805delA (p.Asp936Ilefs)	672	BRCA1	Pathogenic	397509012	RCV000047974; RCV000111942;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244743	41244743	NM_007294.3:c.2805delA	NP_009225.1:p.Asp936Ilefs	NC_000017.10:g.41244743delT	Breast Cancer Information Core (BRCA1):2924&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2800C>T (p.Gln934Ter)	672	BRCA1	Pathogenic	80357223	RCV000047973; RCV000077528;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244748	41244748	NM_007294.3:c.2800C>T	NP_009225.1:p.Gln934Ter	NC_000017.10:g.41244748G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2796_2799delTGGT (p.Gly933Argfs)	672	BRCA1	Pathogenic	80357840	RCV000047970; RCV000111940;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244749	41244752	NM_007294.3:c.2796_2799delTGGT	NP_009225.1:p.Gly933Argfs	NC_000017.10:g.41244749_41244752delACCA	Breast Cancer Information Core (BRCA1):2915&base_change=del TGGT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2798_2799delGT (p.Gly933Alafs)	672	BRCA1	not provided	397509011	RCV000047972;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244749	41244750	NM_007294.3:c.2798_2799delGT	NP_009225.1:p.Gly933Alafs	NC_000017.10:g.41244749_41244750delAC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2798G>A (p.Gly933Asp)	672	BRCA1	Uncertain significance	80356941	RCV000047971; RCV000031071;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244750	41244750	NM_007294.3:c.2798G>A	NP_009225.1:p.Gly933Asp	NC_000017.10:g.41244750C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2789C>T (p.Pro930Leu)	672	BRCA1	Uncertain significance	80357256	RCV000047969; RCV000111938;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244759	41244759	NM_007294.3:c.2789C>T	NP_009225.1:p.Pro930Leu	NC_000017.10:g.41244759G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2782G>A (p.Gly928Ser)	672	BRCA1	Uncertain significance	80356995	RCV000047968; RCV000111937;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244766	41244766	NM_007294.3:c.2782G>A	NP_009225.1:p.Gly928Ser	NC_000017.10:g.41244766C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu)	672	BRCA1	Benign	4986847	RCV000047967; RCV000031070; RCV000195315; RCV000120274; RCV000162517;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41244775	41244775	NM_007294.3:c.2773A>C	NP_009225.1:p.Ile925Leu	NC_000017.10:g.41244775T>C,NC_000017.10:g.41244775T>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00074	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.2767_2770delGTTA (p.Val923Ilefs)	672	BRCA1	Pathogenic	80357661	RCV000047966; RCV000083190;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244778	41244781	NM_007294.3:c.2767_2770delGTTA	NP_009225.1:p.Val923Ilefs	NC_000017.10:g.41244778_41244781delTAAC	Breast Cancer Information Core (BRCA1):2886&base_change=del GTTA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2764_2767delACAG (p.Thr922Leufs)	672	BRCA1	Pathogenic	80357822	RCV000047963; RCV000111935;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244781	41244784	NM_007294.3:c.2764_2767delACAG	NP_009225.1:p.Thr922Leufs	NC_000017.10:g.41244781_41244784delCTGT	Breast Cancer Information Core (BRCA1):2883&base_change=del ACAG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2766delA (p.Val923Leufs)	672	BRCA1	Pathogenic	80357812	RCV000047965; RCV000083189; RCV000213211;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244782	41244782	NM_007294.3:c.2766delA	NP_009225.1:p.Val923Leufs	NC_000017.10:g.41244782delT	Breast Cancer Information Core (BRCA1):2885&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2765C>G (p.Thr922Arg)	672	BRCA1	Uncertain significance	80357460	RCV000047964; RCV000111936; RCV000130481;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244783	41244783	NM_007294.3:c.2765C>G	NP_009225.1:p.Thr922Arg	NC_000017.10:g.41244783G>A,NC_000017.10:g.41244783G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2762delA (p.Gln921Argfs)	672	BRCA1	Pathogenic	80357703	RCV000047962; RCV000111934; RCV000165693;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244786	41244786	NM_007294.3:c.2762delA	NP_009225.1:p.Gln921Argfs	NC_000017.10:g.41244786delT	Breast Cancer Information Core (BRCA1):2881&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2761C>T (p.Gln921Ter)	672	BRCA1	Pathogenic	80357377	RCV000047961; RCV000111933; RCV000221485;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244787	41244787	NM_007294.3:c.2761C>T	NP_009225.1:p.Gln921Ter	NC_000017.10:g.41244787G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2759T>C (p.Val920Ala)	672	BRCA1	Uncertain significance	80357008	RCV000047960; RCV000111932;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244789	41244789	NM_007294.3:c.2759T>C	NP_009225.1:p.Val920Ala	NC_000017.10:g.41244789A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2752A>C (p.Lys918Gln)	672	BRCA1	Uncertain significance	397509010	RCV000047958; RCV000215897;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244796	41244796	NM_007294.3:c.2752A>C	NP_009225.1:p.Lys918Gln	NC_000017.10:g.41244796T>G	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2749dupA (p.Ile917Asnfs)	672	BRCA1	Pathogenic	80357942	RCV000047957; RCV000111931;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244799	41244799	NM_007294.3:c.2749dupA	NP_009225.1:p.Ile917Asnfs	NC_000017.10:g.41244799dupT	Breast Cancer Information Core (BRCA1):2867&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2744_2745delCT (p.Ser915Terfs)	672	BRCA1	Pathogenic	80357540	RCV000047955; RCV000167766; RCV000132272;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244803	41244804	NM_007294.3:c.2744_2745delCT	NP_009225.1:p.Ser915Terfs	NC_000017.10:g.41244803_41244804delAG	Breast Cancer Information Core (BRCA1):2862&base_change=del TC,OMIM Allelic Variant:113705.0009	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2745dupT (p.Asn916Terfs)	672	BRCA1	not provided	397509008	RCV000047956;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244803	41244803	NM_007294.3:c.2745dupT	NP_009225.1:p.Asn916Terfs	NC_000017.10:g.41244803dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2740G>T (p.Glu914Ter)	672	BRCA1	Pathogenic	80357419	RCV000047954; RCV000111929;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244808	41244808	NM_007294.3:c.2740G>T	NP_009225.1:p.Glu914Ter	NC_000017.10:g.41244808C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2739T>A (p.Asn913Lys)	672	BRCA1	Uncertain significance	273899688	RCV000047952; RCV000111928; RCV000217541;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244809	41244809	NM_007294.3:c.2739T>A	NP_009225.1:p.Asn913Lys	NC_000017.10:g.41244809A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2733A>G (p.Gly911=)	672	BRCA1	Benign;Likely benign;Uncertain significance	1800740	RCV000123908; RCV000111927; RCV000047951; RCV000168498; RCV000162536;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41244815	41244815	NM_007294.3:c.2733A>G	NP_009225.1:p.Gly911=	NC_000017.10:g.41244815T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.2726_2730delATCAA (p.Asn909Argfs)	672	BRCA1	Pathogenic	80357712	RCV000047945; RCV000111923;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244818	41244822	NM_007294.3:c.2726_2730delATCAA	NP_009225.1:p.Asn909Argfs	NC_000017.10:g.41244818_41244822delTTGAT	Breast Cancer Information Core (BRCA1):2843&base_change=del AAATC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2728C>T (p.Gln910Ter)	672	BRCA1	not provided	397509004	RCV000047949;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244820	41244820	NM_007294.3:c.2728C>T	NP_009225.1:p.Gln910Ter	NC_000017.10:g.41244820G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2728delC (p.Gln910Lysfs)	672	BRCA1	not provided	397509005	RCV000047950;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244820	41244820	NM_007294.3:c.2728delC	NP_009225.1:p.Gln910Lysfs	NC_000017.10:g.41244820delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2726A>T (p.Asn909Ile)	672	BRCA1	Uncertain significance	80357127	RCV000047944; RCV000031067; RCV000132325;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244822	41244822	NM_007294.3:c.2726A>T	NP_009225.1:p.Asn909Ile	NC_000017.10:g.41244822T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2726delA (p.Asn909Ilefs)	672	BRCA1	Pathogenic	80357614	RCV000047946; RCV000111926;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244822	41244822	NM_007294.3:c.2726delA	NP_009225.1:p.Asn909Ilefs	NC_000017.10:g.41244822delT	Breast Cancer Information Core (BRCA1):2845&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2719_2722delGAAG (p.Glu907Lysfs)	672	BRCA1	Pathogenic	80357731	RCV000047942; RCV000077526;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244826	41244829	NM_007294.3:c.2719_2722delGAAG	NP_009225.1:p.Glu907Lysfs	NC_000017.10:g.41244826_41244829delCTTC	Breast Cancer Information Core (BRCA1):2838&base_change=del GAAG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2722G>T (p.Glu908Ter)	672	BRCA1	Pathogenic	80356978	RCV000074576; RCV000077527; RCV000047943; RCV000131878; RCV000148387;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN221572	17	41244826	41244826	NM_007294.3:c.2722G>T	NP_009225.1:p.Glu908Ter	NC_000017.10:g.41244826C>A	-	CN221572 Breast cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2713C>T (p.Gln905Ter)	672	BRCA1	not provided	397509002	RCV000047941;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244835	41244835	NM_007294.3:c.2713C>T	NP_009225.1:p.Gln905Ter	NC_000017.10:g.41244835G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2710G>T (p.Glu904Ter)	672	BRCA1	Pathogenic	80357035	RCV000047940; RCV000031065;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244838	41244838	NM_007294.3:c.2710G>T	NP_009225.1:p.Glu904Ter	NC_000017.10:g.41244838C>A,NC_000017.10:g.41244838C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2709delT (p.Cys903Trpfs)	672	BRCA1	Pathogenic	80357594	RCV000047939; RCV000111922;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244839	41244839	NM_007294.3:c.2709delT	NP_009225.1:p.Cys903Trpfs	NC_000017.10:g.41244839delA	Breast Cancer Information Core (BRCA1):2828&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2702_2703delTT (p.Phe901Terfs)	672	BRCA1	Pathogenic	80357899	RCV000047938; RCV000111921;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244845	41244846	NM_007294.3:c.2702_2703delTT	NP_009225.1:p.Phe901Terfs	NC_000017.10:g.41244845_41244846delAA	Breast Cancer Information Core (BRCA1):2819&base_change=del TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2694dupA (p.Val899Serfs)	672	BRCA1	Pathogenic	80357549	RCV000047935; RCV000111919;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244854	41244854	NM_007294.3:c.2694dupA	NP_009225.1:p.Val899Serfs	NC_000017.10:g.41244854dupT	Breast Cancer Information Core (BRCA1):2809&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2692A>G (p.Lys898Glu)	672	BRCA1	Uncertain significance	80357420	RCV000047934; RCV000111920;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244856	41244856	NM_007294.3:c.2692A>G	NP_009225.1:p.Lys898Glu	NC_000017.10:g.41244856T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2689_2690insA (p.Pro897Hisfs)	672	BRCA1	not provided	397508999	RCV000047933;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244858	41244859	NM_007294.3:c.2689_2690insA	NP_009225.1:p.Pro897Hisfs	NC_000017.10:g.41244858_41244859insT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2683_2686delCAAA (p.Gln895Valfs)	672	BRCA1	not provided	397508998	RCV000047930;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244862	41244865	NM_007294.3:c.2683_2686delCAAA	NP_009225.1:p.Gln895Valfs	NC_000017.10:g.41244862_41244865delTTTG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2685_2686delAA (p.Pro897Lysfs)	672	BRCA1	Pathogenic	80357636	RCV000047931; RCV000077525;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244862	41244863	NM_007294.3:c.2685_2686delAA	NP_009225.1:p.Pro897Lysfs	NC_000017.10:g.41244862_41244863delTT	Breast Cancer Information Core (BRCA1):2804&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2686A>T (p.Ser896Cys)	672	BRCA1	Uncertain significance	80357188	RCV000047932; RCV000111917;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244862	41244862	NM_007294.3:c.2686A>T	NP_009225.1:p.Ser896Cys	NC_000017.10:g.41244862T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2683C>T (p.Gln895Ter)	672	BRCA1	Pathogenic	397508997	RCV000047929; RCV000131537;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244865	41244865	NM_007294.3:c.2683C>T	NP_009225.1:p.Gln895Ter	NC_000017.10:g.41244865G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2681_2682delAA (p.Lys894Thrfs)	672	BRCA1	Pathogenic	80357971	RCV000074575; RCV000019236; RCV000047927; RCV000131876;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244866	41244867	NM_007294.3:c.2681_2682delAA	NP_009225.1:p.Lys894Thrfs	NC_000017.10:g.41244866_41244867delTT	Breast Cancer Information Core (BRCA1):2800&base_change=del AA,OMIM Allelic Variant:113705.0008	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2682delA (p.Lys894Asnfs)	672	BRCA1	not provided	397508996	RCV000047928;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244866	41244866	NM_007294.3:c.2682delA	NP_009225.1:p.Lys894Asnfs	NC_000017.10:g.41244866delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2679_2680delGA (p.Lys894Thrfs)	672	BRCA1	not provided	397508995	RCV000047924;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244868	41244869	NM_007294.3:c.2679_2680delGA	NP_009225.1:p.Lys894Thrfs	NC_000017.10:g.41244868_41244869delTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2675_2678delTAAA (p.Leu892Terfs)	672	BRCA1	Pathogenic	80357518	RCV000047922; RCV000111913;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244870	41244873	NM_007294.3:c.2675_2678delTAAA	NP_009225.1:p.Leu892Terfs	NC_000017.10:g.41244870_41244873delTTTA	Breast Cancer Information Core (BRCA1):2794&base_change=del TAAA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2677A>C (p.Lys893Gln)	672	BRCA1	Uncertain significance	80357170	RCV000047923; RCV000111915;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244871	41244871	NM_007294.3:c.2677A>C	NP_009225.1:p.Lys893Gln	NC_000017.10:g.41244871T>A,NC_000017.10:g.41244871T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2675T>C (p.Leu892Ser)	672	BRCA1	not provided	397508994	RCV000047921;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244873	41244873	NM_007294.3:c.2675T>C	NP_009225.1:p.Leu892Ser	NC_000017.10:g.41244873A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2671delT (p.Ser891Profs)	672	BRCA1	not provided	397508993	RCV000047920;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244877	41244877	NM_007294.3:c.2671delT	NP_009225.1:p.Ser891Profs	NC_000017.10:g.41244877delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2670delG (p.Ser891Profs)	672	BRCA1	Pathogenic	80357659	RCV000047919; RCV000111912;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244878	41244878	NM_007294.3:c.2670delG	NP_009225.1:p.Ser891Profs	NC_000017.10:g.41244878delC	Breast Cancer Information Core (BRCA1):2789&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2669G>T (p.Gly890Val)	672	BRCA1	Benign	80356874	RCV000047917; RCV000031060; RCV000131935;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244879	41244879	NM_007294.3:c.2669G>T	NP_009225.1:p.Gly890Val	NC_000017.10:g.41244879C>A	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00073	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg)	672	BRCA1	Uncertain significance	80357200	RCV000047916; RCV000111911; RCV000164235;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244880	41244880	NM_007294.3:c.2668G>A	NP_009225.1:p.Gly890Arg	NC_000017.10:g.41244880C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2665dupT (p.Ser889Phefs)	672	BRCA1	not provided	397508992	RCV000047915;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244883	41244883	NM_007294.3:c.2665dupT	NP_009225.1:p.Ser889Phefs	NC_000017.10:g.41244883dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr)	672	BRCA1	Uncertain significance	80357480	RCV000047914; RCV000111910; RCV000167799; RCV000129905;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244886	41244886	NM_007294.3:c.2662C>T	NP_009225.1:p.His888Tyr	NC_000017.10:g.41244886G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2659_2660insA (p.Ala887Aspfs)	672	BRCA1	not provided	397508991	RCV000047912;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244888	41244889	NM_007294.3:c.2659_2660insA	NP_009225.1:p.Ala887Aspfs	NC_000017.10:g.41244888_41244889insT,NC_000017.10:g.41244889dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2659dupG (p.Ala887Glyfs)	672	BRCA1	not provided	397508991	RCV000047913;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244889	41244889	NM_007294.3:c.2659dupG	NP_009225.1:p.Ala887Glyfs	NC_000017.10:g.41244888_41244889insT,NC_000017.10:g.41244889dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2657_2658delCT (p.Ser886Cysfs)	672	BRCA1	Pathogenic	397508990	RCV000047911; RCV000164737;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244890	41244891	NM_007294.3:c.2657_2658delCT	NP_009225.1:p.Ser886Cysfs	NC_000017.10:g.41244890_41244891delAG	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2650A>G (p.Thr884Ala)	672	BRCA1	Uncertain significance	80357120	RCV000047910; RCV000111908;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244898	41244898	NM_007294.3:c.2650A>G	NP_009225.1:p.Thr884Ala	NC_000017.10:g.41244898T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2646_2648delTGC (p.Cys882_Ser1217delinsTer)	672	BRCA1	Pathogenic	80357513	RCV000047909; RCV000083187;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244900	41244902	NM_007294.3:c.2646_2648delTGC	NP_009225.1:p.Cys882_Ser1217delinsTer	NC_000017.10:g.41244900_41244902delGCA	Breast Cancer Information Core (BRCA1):2765&base_change=del TGC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2643delA (p.Glu881Aspfs)	672	BRCA1	not provided	397508989	RCV000047908;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244905	41244905	NM_007294.3:c.2643delA	NP_009225.1:p.Glu881Aspfs	NC_000017.10:g.41244905delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2641G>T (p.Glu881Ter)	672	BRCA1	not provided	397508988	RCV000047907;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244907	41244907	NM_007294.3:c.2641G>T	NP_009225.1:p.Glu881Ter	NC_000017.10:g.41244907C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2638_2639delGAinsAC (p.Glu880Thr)	672	BRCA1	Uncertain significance	730881460	RCV000159907;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244909	41244910	NM_007294.3:c.2638_2639delGAinsAC	NP_009225.1:p.Glu880Thr	NC_000017.10:g.41244909_41244910delTCinsGT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2635G>A (p.Glu879Lys)	672	BRCA1	Uncertain significance	80357251	RCV000047905; RCV000111907;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244913	41244913	NM_007294.3:c.2635G>A	NP_009225.1:p.Glu879Lys	NC_000017.10:g.41244913C>A,NC_000017.10:g.41244913C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2632G>A (p.Ala878Thr)	672	BRCA1	Uncertain significance	80357230	RCV000047904; RCV000111906;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244916	41244916	NM_007294.3:c.2632G>A	NP_009225.1:p.Ala878Thr	NC_000017.10:g.41244916C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2617dupT (p.Ser873Phefs)	672	BRCA1	Pathogenic	80357912	RCV000047903; RCV000111905;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244932	41244932	NM_007294.3:c.2617dupT	NP_009225.1:p.Ser873Phefs	NC_000017.10:g.41244932dupA	Breast Cancer Information Core (BRCA1):2735&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2612_2613insT (p.Phe872Valfs)	672	BRCA1	Pathogenic	80357948	RCV000047900; RCV000111904;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244935	41244936	NM_007294.3:c.2612_2613insT	NP_009225.1:p.Phe872Valfs	NC_000017.10:g.41244935_41244936insA,NC_000017.10:g.41244936dupG	Breast Cancer Information Core (BRCA1):2731&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu)	672	BRCA1	Benign	799917	RCV000114986; RCV000111903; RCV000034735; RCV000120285; RCV000132149;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41244936	41244936	NM_007294.3:c.2612C>T	NP_009225.1:p.Pro871Leu	NC_000017.10:g.41244936G>A,NC_000017.10:g.41244936G>C,NC_000017.10:g.41244936G>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00007,HGMD:CM096315	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.2611_2612delCC (p.Pro871Valfs)	672	BRCA1	Pathogenic	80357962	RCV000047898; RCV000111901;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244936	41244937	NM_007294.3:c.2611_2612delCC	NP_009225.1:p.Pro871Valfs	NC_000017.10:g.41244936_41244937delGG	Breast Cancer Information Core (BRCA1):2730&base_change=del CC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2612C>A (p.Pro871Gln)	672	BRCA1	Uncertain significance	799917	RCV000047899; RCV000111902;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244936	41244936	NM_007294.3:c.2612C>A	NP_009225.1:p.Pro871Gln	NC_000017.10:g.41244936G>A,NC_000017.10:g.41244936G>C,NC_000017.10:g.41244936G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2612delCinsTT (p.Pro871Leufs)	672	BRCA1	not provided	397508986	RCV000047901;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244936	41244936	NM_007294.3:c.2612delCinsTT	NP_009225.1:p.Pro871Leufs	NC_000017.10:g.41244936delGinsAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2612dupC (p.Phe872Valfs)	672	BRCA1	not provided	80357948	RCV000047902;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244936	41244936	NM_007294.3:c.2612dupC	NP_009225.1:p.Phe872Valfs	NC_000017.10:g.41244935_41244936insA,NC_000017.10:g.41244936dupG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2603C>G (p.Ser868Ter)	672	BRCA1	Pathogenic	80356925	RCV000047897; RCV000031058; RCV000162858;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244945	41244945	NM_007294.3:c.2603C>G	NP_009225.1:p.Ser868Ter	NC_000017.10:g.41244945G>C,NC_000017.10:g.41244945G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2603C>A (p.Ser868Ter)	672	BRCA1	not provided	80356925	RCV000047896;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244945	41244945	NM_007294.3:c.2603C>A	NP_009225.1:p.Ser868Ter	NC_000017.10:g.41244945G>C,NC_000017.10:g.41244945G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2600A>G (p.Gln867Arg)	672	BRCA1	not provided	397508985	RCV000047895;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244948	41244948	NM_007294.3:c.2600A>G	NP_009225.1:p.Gln867Arg	NC_000017.10:g.41244948T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys)	672	BRCA1	Benign	41286300	RCV000047892; RCV000083186; RCV000167786; RCV000034734; RCV000120284; RCV000162682;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41244952	41244952	NM_007294.3:c.2596C>T	NP_009225.1:p.Arg866Cys	NC_000017.10:g.41244952G>A	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00072	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.2591C>G (p.Ser864Ter)	672	BRCA1	Pathogenic	80357003	RCV000047889; RCV000132313;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244957	41244957	NM_007294.3:c.2591C>G	NP_009225.1:p.Ser864Ter	NC_000017.10:g.41244957G>A,NC_000017.10:g.41244957G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2591C>T (p.Ser864Leu)	672	BRCA1	Uncertain significance	80357003	RCV000047890; RCV000111898; RCV000132326;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244957	41244957	NM_007294.3:c.2591C>T	NP_009225.1:p.Ser864Leu	NC_000017.10:g.41244957G>A,NC_000017.10:g.41244957G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2590T>G (p.Ser864Ala)	672	BRCA1	Uncertain significance	80357285	RCV000047888; RCV000111897; RCV000164741;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244958	41244958	NM_007294.3:c.2590T>G	NP_009225.1:p.Ser864Ala	NC_000017.10:g.41244958A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2584A>G (p.Lys862Glu)	672	BRCA1	Benign	80356927	RCV000074574; RCV000031057; RCV000047887; RCV000162978;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41244964	41244964	NM_007294.3:c.2584A>G	NP_009225.1:p.Lys862Glu	NC_000017.10:g.41244964T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00071	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2582T>G (p.Phe861Cys)	672	BRCA1	Uncertain significance	80357098	RCV000047886; RCV000111895;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244966	41244966	NM_007294.3:c.2582T>G	NP_009225.1:p.Phe861Cys	NC_000017.10:g.41244966A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2572C>T (p.Gln858Ter)	672	BRCA1	not provided	397508983	RCV000047885;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244976	41244976	NM_007294.3:c.2572C>T	NP_009225.1:p.Gln858Ter	NC_000017.10:g.41244976G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2568T>C (p.Tyr856=)	672	BRCA1	Uncertain significance	80356832	RCV000047883; RCV000111892;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244980	41244980	NM_007294.3:c.2568T>C	NP_009225.1:p.Tyr856=	NC_000017.10:g.41244980A>C,NC_000017.10:g.41244980A>G	Breast Cancer Information Core (BRCA1):2687&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2568T>G (p.Tyr856Ter)	672	BRCA1	Pathogenic	80356832	RCV000047884; RCV000111893;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244980	41244980	NM_007294.3:c.2568T>G	NP_009225.1:p.Tyr856Ter	NC_000017.10:g.41244980A>C,NC_000017.10:g.41244980A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2561_2565delCTCAG (p.Ala854Valfs)	672	BRCA1	not provided	397508981	RCV000047879;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244983	41244987	NM_007294.3:c.2561_2565delCTCAG	NP_009225.1:p.Ala854Valfs	NC_000017.10:g.41244983_41244987delCTGAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2564_2565insTTGAT (p.Gln855Hisfs)	672	BRCA1	not provided	397508982	RCV000047881;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244983	41244984	NM_007294.3:c.2564_2565insTTGAT	NP_009225.1:p.Gln855Hisfs	NC_000017.10:g.41244983_41244984insATCAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter)	672	BRCA1	Pathogenic	80357131	RCV000047880; RCV000031056; RCV000223464;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41244985	41244985	NM_007294.3:c.2563C>T	NP_009225.1:p.Gln855Ter	NC_000017.10:g.41244985G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2560_2561dupGC (p.Gln855Leufs)	672	BRCA1	Pathogenic	80357968	RCV000047877; RCV000111890;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244987	41244988	NM_007294.3:c.2560_2561dupGC	NP_009225.1:p.Gln855Leufs	NC_000017.10:g.41244986_41244987insGC,NC_000017.10:g.41244987_41244988dupGC	Breast Cancer Information Core (BRCA1):2680&base_change=ins GC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2561C>T (p.Ala854Val)	672	BRCA1	Uncertain significance	80357315	RCV000047878; RCV000111889;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244987	41244987	NM_007294.3:c.2561C>T	NP_009225.1:p.Ala854Val	NC_000017.10:g.41244987G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2558dupA (p.Asp853Glufs)	672	BRCA1	Pathogenic	80357835	RCV000047876; RCV000111888;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41244990	41244990	NM_007294.3:c.2558dupA	NP_009225.1:p.Asp853Glufs	NC_000017.10:g.41244990dupT	Breast Cancer Information Core (BRCA1):2676&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2556delT (p.Asp853Metfs)	672	BRCA1	not provided	397508978	RCV000047874;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244992	41244992	NM_007294.3:c.2556delT	NP_009225.1:p.Asp853Metfs	NC_000017.10:g.41244992delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2556dupT (p.Asp853Terfs)	672	BRCA1	not provided	397508979	RCV000047875;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244992	41244992	NM_007294.3:c.2556dupT	NP_009225.1:p.Asp853Terfs	NC_000017.10:g.41244992dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2551delG (p.Glu851Asnfs)	672	BRCA1	not provided	397508977	RCV000047873;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41244997	41244997	NM_007294.3:c.2551delG	NP_009225.1:p.Glu851Asnfs	NC_000017.10:g.41244997delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2545G>T (p.Glu849Ter)	672	BRCA1	Pathogenic	80356951	RCV000047872; RCV000111887; RCV000131874;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245003	41245003	NM_007294.3:c.2545G>T	NP_009225.1:p.Glu849Ter	NC_000017.10:g.41245003C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2541G>A (p.Met847Ile)	672	BRCA1	Uncertain significance	80357195	RCV000047871; RCV000111886;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245007	41245007	NM_007294.3:c.2541G>A	NP_009225.1:p.Met847Ile	NC_000017.10:g.41245007C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2534T>C (p.Ile845Thr)	672	BRCA1	not provided	397508976	RCV000047870;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245014	41245014	NM_007294.3:c.2534T>C	NP_009225.1:p.Ile845Thr	NC_000017.10:g.41245014A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2527A>G (p.Thr843Ala)	672	BRCA1	Uncertain significance	80357435	RCV000047869; RCV000111884;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245021	41245021	NM_007294.3:c.2527A>G	NP_009225.1:p.Thr843Ala	NC_000017.10:g.41245021T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2522G>A (p.Arg841Gln)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357337	RCV000047868; RCV000083185; RCV000132442;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245026	41245026	NM_007294.3:c.2522G>A	NP_009225.1:p.Arg841Gln	NC_000017.10:g.41245026C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2517_2518delCA (p.His839Glnfs)	672	BRCA1	Pathogenic	397508974	RCV000047865; RCV000077521;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245030	41245031	NM_007294.3:c.2517_2518delCA	NP_009225.1:p.His839Glnfs	NC_000017.10:g.41245030_41245031delTG	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2518delA (p.Ser840Valfs)	672	BRCA1	not provided	397508975	RCV000047866;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245030	41245030	NM_007294.3:c.2518delA	NP_009225.1:p.Ser840Valfs	NC_000017.10:g.41245030delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2515delC (p.His839Thrfs)	672	BRCA1	Pathogenic	80357607	RCV000047864; RCV000031055; RCV000131999;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245033	41245033	NM_007294.3:c.2515delC	NP_009225.1:p.His839Thrfs	NC_000017.10:g.41245033delG	Breast Cancer Information Core (BRCA1):2634&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2513delA (p.Asn838Thrfs)	672	BRCA1	Pathogenic	80357863	RCV000047863; RCV000111882;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245035	41245035	NM_007294.3:c.2513delA	NP_009225.1:p.Asn838Thrfs	NC_000017.10:g.41245035delT	Breast Cancer Information Core (BRCA1):2632&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2507_2508delAA (p.Glu836Glyfs)	672	BRCA1	Uncertain significance	273899686	RCV000047862; RCV000111881;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245040	41245041	NM_007294.3:c.2507_2508delAA	NP_009225.1:p.Glu836Glyfs	NC_000017.10:g.41245040_41245041delTT	Breast Cancer Information Core (BRCA1):2626&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2488_2497dupAAGTATCCAT (p.Leu833Terfs)	672	BRCA1	not provided	397508973	RCV000047861;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245051	41245060	NM_007294.3:c.2488_2497dupAAGTATCCAT	NP_009225.1:p.Leu833Terfs	NC_000017.10:g.41245051_41245060dupATGGATACTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2486_2487delTT (p.Phe829Terfs)	672	BRCA1	not provided	397508971	RCV000047858;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245061	41245062	NM_007294.3:c.2486_2487delTT	NP_009225.1:p.Phe829Terfs	NC_000017.10:g.41245061_41245062delAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2487delT (p.Phe829Leufs)	672	BRCA1	Pathogenic	80357658	RCV000047859; RCV000111879;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245061	41245061	NM_007294.3:c.2487delT	NP_009225.1:p.Phe829Leufs	NC_000017.10:g.41245061delA	Breast Cancer Information Core (BRCA1):2606&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2487dupT (p.Lys830Terfs)	672	BRCA1	not provided	397508972	RCV000047860;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245061	41245061	NM_007294.3:c.2487dupT	NP_009225.1:p.Lys830Terfs	NC_000017.10:g.41245061dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2483_2485delGCT (p.Gly828_Phe829delinsVal)	672	BRCA1	Uncertain significance	80358331	RCV000047857; RCV000111878; RCV000220742;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245063	41245065	NM_007294.3:c.2483_2485delGCT	NP_009225.1:p.Gly828_Phe829delinsVal	NC_000017.10:g.41245063_41245065delAGC	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2482G>A (p.Gly828Ser)	672	BRCA1	Uncertain significance	80357185	RCV000047856; RCV000111877; RCV000131949;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245066	41245066	NM_007294.3:c.2482G>A	NP_009225.1:p.Gly828Ser	NC_000017.10:g.41245066C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2481A>C (p.Glu827Asp)	672	BRCA1	Likely benign;Uncertain significance	397508970	RCV000047855; RCV000077520; RCV000216311;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245067	41245067	NM_007294.3:c.2481A>C	NP_009225.1:p.Glu827Asp	NC_000017.10:g.41245067T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2477_2478delCA (p.Thr826Argfs)	672	BRCA1	Pathogenic	80357800	RCV000047853; RCV000111874;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245070	41245071	NM_007294.3:c.2477_2478delCA	NP_009225.1:p.Thr826Argfs	NC_000017.10:g.41245070_41245071delTG	Breast Cancer Information Core (BRCA1):2596&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2477delC (p.Thr826Lysfs)	672	BRCA1	Pathogenic	80357740	RCV000047854; RCV000111875;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245071	41245071	NM_007294.3:c.2477delC	NP_009225.1:p.Thr826Lysfs	NC_000017.10:g.41245071delG	Breast Cancer Information Core (BRCA1):2596&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2476delA (p.Thr826Glnfs)	672	BRCA1	Pathogenic	80357631	RCV000047851; RCV000111872;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245072	41245072	NM_007294.3:c.2476delA	NP_009225.1:p.Thr826Glnfs	NC_000017.10:g.41245072delT	Breast Cancer Information Core (BRCA1):2595&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2474A>T (p.Asp825Val)	672	BRCA1	Uncertain significance	80357249	RCV000047849; RCV000111870;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245074	41245074	NM_007294.3:c.2474A>T	NP_009225.1:p.Asp825Val	NC_000017.10:g.41245074T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2468delG (p.Arg823Lysfs)	672	BRCA1	Pathogenic	80357799	RCV000047847; RCV000111867;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245080	41245080	NM_007294.3:c.2468delG	NP_009225.1:p.Arg823Lysfs	NC_000017.10:g.41245080delC	Breast Cancer Information Core (BRCA1):2587&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu)	672	BRCA1	Benign	56082113	RCV000157729; RCV000111865; RCV000047846; RCV000034732; RCV000120273; RCV000162590;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41245090	41245090	NM_007294.3:c.2458A>G	NP_009225.1:p.Lys820Glu	NC_000017.10:g.41245090T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00005	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.2457delC (p.Asp821Ilefs)	672	BRCA1	Pathogenic	80357669	RCV000047845; RCV000031052; RCV000167767; RCV000131356;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245091	41245091	NM_007294.3:c.2457delC	NP_009225.1:p.Asp821Ilefs	NC_000017.10:g.41245091delG	Breast Cancer Information Core (BRCA1):2576&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2450delG (p.Gly817Valfs)	672	BRCA1	Pathogenic	80357679	RCV000047844; RCV000111864;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245098	41245098	NM_007294.3:c.2450delG	NP_009225.1:p.Gly817Valfs	NC_000017.10:g.41245098delC	Breast Cancer Information Core (BRCA1):2569&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2447A>G (p.His816Arg)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357108	RCV000047843; RCV000031051; RCV000131563;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245101	41245101	NM_007294.3:c.2447A>G	NP_009225.1:p.His816Arg	NC_000017.10:g.41245101T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2440_2441insA (p.Leu814Hisfs)	672	BRCA1	not provided	397508969	RCV000047841;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245107	41245108	NM_007294.3:c.2440_2441insA	NP_009225.1:p.Leu814Hisfs	NC_000017.10:g.41245107_41245108insT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2437G>T (p.Gly813Ter)	672	BRCA1	Pathogenic	80357186	RCV000047840; RCV000111862;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245111	41245111	NM_007294.3:c.2437G>T	NP_009225.1:p.Gly813Ter	NC_000017.10:g.41245111C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2434A>T (p.Lys812Ter)	672	BRCA1	not provided	397508968	RCV000047839;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245114	41245114	NM_007294.3:c.2434A>T	NP_009225.1:p.Lys812Ter	NC_000017.10:g.41245114T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2429delA (p.Asn810Thrfs)	672	BRCA1	not provided	397508967	RCV000047837;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245119	41245119	NM_007294.3:c.2429delA	NP_009225.1:p.Asn810Thrfs	NC_000017.10:g.41245119delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2420C>A (p.Ala807Glu)	672	BRCA1	Uncertain significance	273899683	RCV000047835; RCV000111855;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245128	41245128	NM_007294.3:c.2420C>A	NP_009225.1:p.Ala807Glu	NC_000017.10:g.41245128G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2419G>T (p.Ala807Ser)	672	BRCA1	Uncertain significance	80357240	RCV000047833; RCV000111854;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245129	41245129	NM_007294.3:c.2419G>T	NP_009225.1:p.Ala807Ser	NC_000017.10:g.41245129C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2416G>A (p.Ala806Thr)	672	BRCA1	Likely benign;Uncertain significance	80357144	RCV000047832; RCV000077517; RCV000218307; RCV000212167;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	41245132	41245132	NM_007294.3:c.2416G>A	NP_009225.1:p.Ala806Thr	NC_000017.10:g.41245132C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2413T>C (p.Cys805Arg)	672	BRCA1	not provided	397508966	RCV000047831;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245135	41245135	NM_007294.3:c.2413T>C	NP_009225.1:p.Cys805Arg	NC_000017.10:g.41245135A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2411_2412delAG (p.Gln804Leufs)	672	BRCA1	Pathogenic	80357664	RCV000159906; RCV000031047; RCV000047829; RCV000131426;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245136	41245137	NM_007294.3:c.2411_2412delAG	NP_009225.1:p.Gln804Leufs	NC_000017.10:g.41245136_41245137delCT	Breast Cancer Information Core (BRCA1):2530&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2412G>C (p.Gln804His)	672	BRCA1	Benign	55746541	RCV000047830; RCV000111853; RCV000203636; RCV000120290; RCV000162976;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41245136	41245136	NM_007294.3:c.2412G>C	NP_009225.1:p.Gln804His	NC_000017.10:g.41245136C>G,NC_000017.10:g.41245136C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00027	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.2410C>T (p.Gln804Ter)	672	BRCA1	Pathogenic	80356982	RCV000047828; RCV000077516;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245138	41245138	NM_007294.3:c.2410C>T	NP_009225.1:p.Gln804Ter	NC_000017.10:g.41245138G>A,NC_000017.10:g.41245138G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2406_2409delGAGT (p.Gln804Valfs)	672	BRCA1	Pathogenic	80357674	RCV000047827; RCV000111845;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245139	41245142	NM_007294.3:c.2406_2409delGAGT	NP_009225.1:p.Gln804Valfs	NC_000017.10:g.41245139_41245142delACTC	Breast Cancer Information Core (BRCA1):2525&base_change=del GAGT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2405_2406delTG (p.Val802Glufs)	672	BRCA1	Pathogenic	80357706	RCV000047826; RCV000111844; RCV000162857;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245142	41245143	NM_007294.3:c.2405_2406delTG	NP_009225.1:p.Val802Glufs	NC_000017.10:g.41245142_41245143delCA	Breast Cancer Information Core (BRCA1):2520&base_change=del TG,Breast Cancer Information Core (BRCA1):2524&base_change=del TG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2403T>A (p.Cys801Ter)	672	BRCA1	Pathogenic	80357381	RCV000047825; RCV000083183;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245145	41245145	NM_007294.3:c.2403T>A	NP_009225.1:p.Cys801Ter	NC_000017.10:g.41245145A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2393delC (p.Pro798Glnfs)	672	BRCA1	Pathogenic	80357850	RCV000047823; RCV000111841;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245155	41245155	NM_007294.3:c.2393delC	NP_009225.1:p.Pro798Glnfs	NC_000017.10:g.41245155delG	Breast Cancer Information Core (BRCA1):2512&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2390_2391delAA (p.Glu797Alafs)	672	BRCA1	Pathogenic	80357546	RCV000047822; RCV000111840;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245157	41245158	NM_007294.3:c.2390_2391delAA	NP_009225.1:p.Glu797Alafs	NC_000017.10:g.41245157_41245158delTT	Breast Cancer Information Core (BRCA1):2509&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2389_2390delGA (p.Glu797Thrfs)	672	BRCA1	Pathogenic	80357695	RCV000047820; RCV000083182; RCV000162855;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245158	41245159	NM_007294.3:c.2389_2390delGA	NP_009225.1:p.Glu797Thrfs	NC_000017.10:g.41245158_41245159delTC	Breast Cancer Information Core (BRCA1):2508&base_change=del GA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter)	672	BRCA1	Pathogenic	62625306	RCV000047819; RCV000019252; RCV000212169; RCV000162856;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41245159	41245159	NM_007294.3:c.2389G>T	NP_009225.1:p.Glu797Ter	NC_000017.10:g.41245159C>A,NC_000017.10:g.41245159C>T	OMIM Allelic Variant:113705.0023	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.2389delG (p.Glu797Asnfs)	672	BRCA1	not provided	397508965	RCV000047821;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245159	41245159	NM_007294.3:c.2389delG	NP_009225.1:p.Glu797Asnfs	NC_000017.10:g.41245159delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2387C>T (p.Thr796Ile)	672	BRCA1	Uncertain significance	80357364	RCV000047818; RCV000111839; RCV000212168; RCV000167276;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41245161	41245161	NM_007294.3:c.2387C>T	NP_009225.1:p.Thr796Ile	NC_000017.10:g.41245161G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala)	672	BRCA1	Benign;Likely benign;Uncertain significance	41286298	RCV000047817; RCV000031046; RCV000167808; RCV000173843; RCV000131470;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41245180	41245180	NM_007294.3:c.2368A>G	NP_009225.1:p.Thr790Ala	NC_000017.10:g.41245180T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.2362G>A (p.Val788Ile)	672	BRCA1	Uncertain significance	80357060	RCV000047816; RCV000111835; RCV000131669;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245186	41245186	NM_007294.3:c.2362G>A	NP_009225.1:p.Val788Ile	NC_000017.10:g.41245186C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2359delG (p.Glu787Lysfs)	672	BRCA1	not provided	397508964	RCV000047814;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245189	41245189	NM_007294.3:c.2359delG	NP_009225.1:p.Glu787Lysfs	NC_000017.10:g.41245189delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2359dupG (p.Glu787Glyfs)	672	BRCA1	Pathogenic	80357739	RCV000047815; RCV000111834; RCV000166731;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245189	41245189	NM_007294.3:c.2359dupG	NP_009225.1:p.Glu787Glyfs	NC_000017.10:g.41245189dupC	Breast Cancer Information Core (BRCA1):2478&base_change=ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2351_2357delCGTTACT (p.Ser784Trpfs)	672	BRCA1	Pathogenic	80357820	RCV000047810; RCV000111831;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245191	41245197	NM_007294.3:c.2351_2357delCGTTACT	NP_009225.1:p.Ser784Trpfs	NC_000017.10:g.41245191_41245197delAGTAACG	Breast Cancer Information Core (BRCA1):2470&base_change=del CGTTACT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2357delT (p.Leu786Argfs)	672	BRCA1	not provided	397508963	RCV000047813;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245191	41245191	NM_007294.3:c.2357delT	NP_009225.1:p.Leu786Argfs	NC_000017.10:g.41245191delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2356delC (p.Leu786Trpfs)	672	BRCA1	not provided	397508962	RCV000047812;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245192	41245192	NM_007294.3:c.2356delC	NP_009225.1:p.Leu786Trpfs	NC_000017.10:g.41245192delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2354T>A (p.Leu785Ter)	672	BRCA1	not provided	397508961	RCV000047811;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245194	41245194	NM_007294.3:c.2354T>A	NP_009225.1:p.Leu785Ter	NC_000017.10:g.41245194A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2351C>T (p.Ser784Leu)	672	BRCA1	Likely benign;Uncertain significance	55914168	RCV000047809; RCV000031045; RCV000203625; RCV000131345;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245197	41245197	NM_007294.3:c.2351C>T	NP_009225.1:p.Ser784Leu	NC_000017.10:g.41245197G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2350_2351delTC (p.Ser784Valfs)	672	BRCA1	not provided	397508960	RCV000047808;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245197	41245198	NM_007294.3:c.2350_2351delTC	NP_009225.1:p.Ser784Valfs	NC_000017.10:g.41245197_41245198delGA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2350T>G (p.Ser784Ala)	672	BRCA1	Uncertain significance	80357399	RCV000047807; RCV000111830;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245198	41245198	NM_007294.3:c.2350T>G	NP_009225.1:p.Ser784Ala	NC_000017.10:g.41245198A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val)	672	BRCA1	Benign;Likely benign;Uncertain significance	80356948	RCV000047806; RCV000083181; RCV000130405;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245201	41245201	NM_007294.3:c.2347A>G	NP_009225.1:p.Ile783Val	NC_000017.10:g.41245201T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2338C>A (p.Gln780Lys)	672	BRCA1	Uncertain significance	80356945	RCV000047804; RCV000111829;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245210	41245210	NM_007294.3:c.2338C>A	NP_009225.1:p.Gln780Lys	NC_000017.10:g.41245210G>A,NC_000017.10:g.41245210G>C,NC_000017.10:g.41245210G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2332_2333insTG (p.Gly778Valfs)	672	BRCA1	Pathogenic	431825390	RCV000159905; RCV000083027;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245215	41245216	NM_007294.3:c.2332_2333insTG	NP_009225.1:p.Gly778Valfs	NC_000017.10:g.41245215_41245216insCA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2333G>A (p.Gly778Asp)	672	BRCA1	Uncertain significance	730881483	RCV000159969;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245215	41245215	NM_007294.3:c.2333G>A	NP_009225.1:p.Gly778Asp	NC_000017.10:g.41245215C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2331T>A (p.Tyr777Ter)	672	BRCA1	Pathogenic	80357444	RCV000047803; RCV000111827;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245217	41245217	NM_007294.3:c.2331T>A	NP_009225.1:p.Tyr777Ter	NC_000017.10:g.41245217A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2329delT (p.Tyr777Metfs)	672	BRCA1	Pathogenic	80357725	RCV000047801; RCV000111826; RCV000131932;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245219	41245219	NM_007294.3:c.2329delT	NP_009225.1:p.Tyr777Metfs	NC_000017.10:g.41245219delA	Breast Cancer Information Core (BRCA1):2448&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2325_2326insA (p.Asp776Argfs)	672	BRCA1	not provided	397508959	RCV000047800;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245222	41245223	NM_007294.3:c.2325_2326insA	NP_009225.1:p.Asp776Argfs	NC_000017.10:g.41245222_41245223insT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2322T>A (p.Gly774=)	672	BRCA1	not provided	397508958	RCV000047799;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245226	41245226	NM_007294.3:c.2322T>A	NP_009225.1:p.Gly774=	NC_000017.10:g.41245226A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2314delG (p.Val772Tyrfs)	672	BRCA1	Pathogenic	80357957	RCV000047796; RCV000111823; RCV000132319;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245234	41245234	NM_007294.3:c.2314delG	NP_009225.1:p.Val772Tyrfs	NC_000017.10:g.41245234delC	Breast Cancer Information Core (BRCA1):2433&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2310_2311insC (p.Val772Glyfs)	672	BRCA1	not provided	397508955	RCV000047795;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245237	41245238	NM_007294.3:c.2310_2311insC	NP_009225.1:p.Val772Glyfs	NC_000017.10:g.41245237_41245238insG,NC_000017.10:g.41245238_41245256dup19	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=)	672	BRCA1	Benign	16940	RCV000114985; RCV000111822; RCV000152867; RCV000128982;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41245237	41245237	NM_007294.3:c.2311T>C	NP_009225.1:p.Leu771=	NC_000017.10:g.41245237A>G	Breast Cancer Information Core (BRCA1):2430&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.2292_2310dup19 (p.Leu771Argfs)	672	BRCA1	not provided	397508955	RCV000047784;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245238	41245256	NM_007294.3:c.2292_2310dup19	NP_009225.1:p.Leu771Argfs	NC_000017.10:g.41245237_41245238insG,NC_000017.10:g.41245238_41245256dup19	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2308delT (p.Ser770Hisfs)	672	BRCA1	not provided	397508956	RCV000047790;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245240	41245240	NM_007294.3:c.2308delT	NP_009225.1:p.Ser770Hisfs	NC_000017.10:g.41245240delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2299A>G (p.Ser767Gly)	672	BRCA1	Uncertain significance	80357194	RCV000047788; RCV000031042; RCV000130067;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245249	41245249	NM_007294.3:c.2299A>G	NP_009225.1:p.Ser767Gly	NC_000017.10:g.41245249T>A,NC_000017.10:g.41245249T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2299delA (p.Ser767Alafs)	672	BRCA1	Pathogenic	80357786	RCV000047789; RCV000031043; RCV000132306;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245249	41245249	NM_007294.3:c.2299delA	NP_009225.1:p.Ser767Alafs	NC_000017.10:g.41245249delT	Breast Cancer Information Core (BRCA1):2418&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2296_2297delAG (p.Ser766Terfs)	672	BRCA1	Pathogenic	80357780	RCV000047787; RCV000019235; RCV000214000;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245251	41245252	NM_007294.3:c.2296_2297delAG	NP_009225.1:p.Ser766Terfs	NC_000017.10:g.41245251_41245252delCT	Breast Cancer Information Core (BRCA1):2415&base_change=del AG,OMIM Allelic Variant:113705.0007	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2294A>G (p.Glu765Gly)	672	BRCA1	Uncertain significance	80357085	RCV000047786; RCV000111819;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245254	41245254	NM_007294.3:c.2294A>G	NP_009225.1:p.Glu765Gly	NC_000017.10:g.41245254T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2293G>T (p.Glu765Ter)	672	BRCA1	Pathogenic	80357449	RCV000047785; RCV000111818; RCV000162853;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245255	41245255	NM_007294.3:c.2293G>T	NP_009225.1:p.Glu765Ter	NC_000017.10:g.41245255C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2283_2284delAA (p.Arg762Ilefs)	672	BRCA1	Pathogenic	80357657	RCV000047782; RCV000111816;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245264	41245265	NM_007294.3:c.2283_2284delAA	NP_009225.1:p.Arg762Ilefs	NC_000017.10:g.41245264_41245265delTT	Breast Cancer Information Core (BRCA1):2402&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2282A>C (p.Glu761Ala)	672	BRCA1	Uncertain significance	80356869	RCV000047781; RCV000111815;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245266	41245266	NM_007294.3:c.2282A>C	NP_009225.1:p.Glu761Ala	NC_000017.10:g.41245266T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2275C>T (p.Gln759Ter)	672	BRCA1	Pathogenic	80356999	RCV000047780; RCV000111814;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245273	41245273	NM_007294.3:c.2275C>T	NP_009225.1:p.Gln759Ter	NC_000017.10:g.41245273G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2269delG (p.Val757Phefs)	672	BRCA1	Pathogenic	80357583	RCV000047779; RCV000031040; RCV000215693;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245279	41245279	NM_007294.3:c.2269delG	NP_009225.1:p.Val757Phefs	NC_000017.10:g.41245279delC	Breast Cancer Information Core (BRCA1):2388&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2268G>C (p.Arg756Ser)	672	BRCA1	Likely benign;Uncertain significance	80356884	RCV000047778; RCV000111812; RCV000129867;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245280	41245280	NM_007294.3:c.2268G>C	NP_009225.1:p.Arg756Ser	NC_000017.10:g.41245280C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2263G>T (p.Glu755Ter)	672	BRCA1	Pathogenic	41286296	RCV000047776; RCV000111810;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245285	41245285	NM_007294.3:c.2263G>T	NP_009225.1:p.Glu755Ter	NC_000017.10:g.41245285C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2263delG (p.Glu755Lysfs)	672	BRCA1	Pathogenic	80357960	RCV000047777; RCV000111811;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245285	41245285	NM_007294.3:c.2263delG	NP_009225.1:p.Glu755Lysfs	NC_000017.10:g.41245285delC	Breast Cancer Information Core (BRCA1):2382&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2253_2254delGT (p.Met751Ilefs)	672	BRCA1	Pathogenic	80357602	RCV000047775; RCV000111808;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245294	41245295	NM_007294.3:c.2253_2254delGT	NP_009225.1:p.Met751Ilefs	NC_000017.10:g.41245294_41245295delAC	Breast Cancer Information Core (BRCA1):2372&base_change=del GT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2248_2252delCTCAT (p.Leu750Valfs)	672	BRCA1	Pathogenic	397508954	RCV000047773; RCV000210960;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245296	41245300	NM_007294.3:c.2248_2252delCTCAT	NP_009225.1:p.Leu750Valfs	NC_000017.10:g.41245296_41245300delATGAG	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2245G>T (p.Asp749Tyr)	672	BRCA1	Uncertain significance	80357114	RCV000047772; RCV000111807;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245303	41245303	NM_007294.3:c.2245G>T	NP_009225.1:p.Asp749Tyr	NC_000017.10:g.41245303C>A,NC_000017.10:g.41245303C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2241delC (p.Asp749Ilefs)	672	BRCA1	Pathogenic	80357650	RCV000047770; RCV000077512;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245307	41245307	NM_007294.3:c.2241delC	NP_009225.1:p.Asp749Ilefs	NC_000017.10:g.41245307delG	Breast Cancer Information Core (BRCA1):2360&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2241dupC (p.Lys748Glnfs)	672	BRCA1	Pathogenic	397508953	RCV000047771; RCV000077096;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245307	41245307	NM_007294.3:c.2241dupC	NP_009225.1:p.Lys748Glnfs	NC_000017.10:g.41245307dupG	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2236dupG (p.Asp746Glyfs)	672	BRCA1	Pathogenic	80357909	RCV000047769; RCV000111805;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245312	41245312	NM_007294.3:c.2236dupG	NP_009225.1:p.Asp746Glyfs	NC_000017.10:g.41245312dupC	Breast Cancer Information Core (BRCA1):2355&base_change=ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=)	672	BRCA1	Benign;Likely benign;Uncertain significance	4986846	RCV000047768; RCV000111804; RCV000195314; RCV000162518;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245316	41245316	NM_007294.3:c.2232T>C	NP_009225.1:p.Ala744=	NC_000017.10:g.41245316A>C,NC_000017.10:g.41245316A>G	Breast Cancer Information Core (BRCA1):2351&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2222C>G (p.Ser741Cys)	672	BRCA1	Uncertain significance	80357051	RCV000047766; RCV000111801; RCV000214807;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245326	41245326	NM_007294.3:c.2222C>G	NP_009225.1:p.Ser741Cys	NC_000017.10:g.41245326G>A,NC_000017.10:g.41245326G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2218G>C (p.Val740Leu)	672	BRCA1	Uncertain significance	80357415	RCV000047765; RCV000111798; RCV000220800;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245330	41245330	NM_007294.3:c.2218G>C	NP_009225.1:p.Val740Leu	NC_000017.10:g.41245330C>A,NC_000017.10:g.41245330C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2216_2217delAA (p.Lys739Serfs)	672	BRCA1	not provided	397508952	RCV000047764;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245331	41245332	NM_007294.3:c.2216_2217delAA	NP_009225.1:p.Lys739Serfs	NC_000017.10:g.41245331_41245332delTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2212_2215delGTTA (p.Val738Lysfs)	672	BRCA1	not provided	397508951	RCV000047762;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245333	41245336	NM_007294.3:c.2212_2215delGTTA	NP_009225.1:p.Val738Lysfs	NC_000017.10:g.41245333_41245336delTAAC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2215A>T (p.Lys739Ter)	672	BRCA1	Pathogenic	56329598	RCV000047763; RCV000111795;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245333	41245333	NM_007294.3:c.2215A>T	NP_009225.1:p.Lys739Ter	NC_000017.10:g.41245333T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2211_2212delAG (p.Val738Terfs)	672	BRCA1	not provided	397508950	RCV000047761;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245336	41245337	NM_007294.3:c.2211_2212delAG	NP_009225.1:p.Val738Terfs	NC_000017.10:g.41245336_41245337delCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2210_2211delCA (p.Thr737Serfs)	672	BRCA1	Pathogenic	80357654	RCV000047759; RCV000031037; RCV000131875;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245337	41245338	NM_007294.3:c.2210_2211delCA	NP_009225.1:p.Thr737Serfs	NC_000017.10:g.41245337_41245338delTG	Breast Cancer Information Core (BRCA1):2329&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2210delC (p.Thr737Lysfs)	672	BRCA1	Pathogenic	80357793	RCV000047760; RCV000111793;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245338	41245338	NM_007294.3:c.2210delC	NP_009225.1:p.Thr737Lysfs	NC_000017.10:g.41245338delG	Breast Cancer Information Core (BRCA1):2329&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2206delG (p.Glu736Lysfs)	672	BRCA1	Pathogenic	80357860	RCV000047757; RCV000083180;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245342	41245342	NM_007294.3:c.2206delG	NP_009225.1:p.Glu736Lysfs	NC_000017.10:g.41245342delC	Breast Cancer Information Core (BRCA1):2325&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2203delC (p.Leu735Terfs)	672	BRCA1	Pathogenic	80357936	RCV000047756; RCV000111792;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245345	41245345	NM_007294.3:c.2203delC	NP_009225.1:p.Leu735Terfs	NC_000017.10:g.41245345delG	Breast Cancer Information Core (BRCA1):2322&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2202delA (p.Lys734Asnfs)	672	BRCA1	Pathogenic	80357982	RCV000047755; RCV000111791;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245346	41245346	NM_007294.3:c.2202delA	NP_009225.1:p.Lys734Asnfs	NC_000017.10:g.41245346delT	Breast Cancer Information Core (BRCA1):2321&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2188_2201delGAAAAAGAAGAGAA (p.Glu730Thrfs)	672	BRCA1	Pathogenic	273898681	RCV000047748; RCV000111784;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245347	41245360	NM_007294.3:c.2188_2201delGAAAAAGAAGAGAA	NP_009225.1:p.Glu730Thrfs	NC_000017.10:g.41245347_41245360delTTCTCTTCTTTTTC	Breast Cancer Information Core (BRCA1):2307&base_change=del GAAAAAGAAGAGAA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2197_2201delGAGAA (p.Glu733Thrfs)	672	BRCA1	Pathogenic	80357507	RCV000047754; RCV000111789;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245347	41245351	NM_007294.3:c.2197_2201delGAGAA	NP_009225.1:p.Glu733Thrfs	NC_000017.10:g.41245347_41245351delTTCTC	Breast Cancer Information Core (BRCA1):2312&base_change=del AGAAG,Breast Cancer Information Core (BRCA1):2313&base_change=del GAAGA,Breast Cancer Infor	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2197G>T (p.Glu733Ter)	672	BRCA1	Pathogenic	397508949	RCV000047753; RCV000077511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245351	41245351	NM_007294.3:c.2197G>T	NP_009225.1:p.Glu733Ter	NC_000017.10:g.41245351C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2192_2196delAAGAA (p.Lys731Argfs)	672	BRCA1	Pathogenic	397508946	RCV000047749; RCV000211020; RCV000213548;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245352	41245356	NM_007294.3:c.2192_2196delAAGAA	NP_009225.1:p.Lys731Argfs	NC_000017.10:g.41245352_41245356delTTCTT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2193_2196delAGAA (p.Glu732Argfs)	672	BRCA1	not provided	397508947	RCV000047750;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245352	41245355	NM_007294.3:c.2193_2196delAGAA	NP_009225.1:p.Glu732Argfs	NC_000017.10:g.41245352_41245355delTTCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2196delA (p.Glu733Argfs)	672	BRCA1	not provided	397508948	RCV000047752;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245352	41245352	NM_007294.3:c.2196delA	NP_009225.1:p.Glu733Argfs	NC_000017.10:g.41245352delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2194G>T (p.Glu732Ter)	672	BRCA1	Pathogenic	80357426	RCV000047751; RCV000111786;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245354	41245354	NM_007294.3:c.2194G>T	NP_009225.1:p.Glu732Ter	NC_000017.10:g.41245354C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2188G>T (p.Glu730Ter)	672	BRCA1	Pathogenic	80357058	RCV000047747; RCV000111782;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245360	41245360	NM_007294.3:c.2188G>T	NP_009225.1:p.Glu730Ter	NC_000017.10:g.41245360C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2183G>A (p.Arg728Lys)	672	BRCA1	Uncertain significance	80357335	RCV000047746; RCV000077510; RCV000129301;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245365	41245365	NM_007294.3:c.2183G>A	NP_009225.1:p.Arg728Lys	NC_000017.10:g.41245365C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2180C>T (p.Pro727Leu)	672	BRCA1	Uncertain significance	80356912	RCV000047745; RCV000077509; RCV000215724;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245368	41245368	NM_007294.3:c.2180C>T	NP_009225.1:p.Pro727Leu	NC_000017.10:g.41245368G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2176_2177delCT (p.Leu726Serfs)	672	BRCA1	not provided	397508945	RCV000047743;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245371	41245372	NM_007294.3:c.2176_2177delCT	NP_009225.1:p.Leu726Serfs	NC_000017.10:g.41245371_41245372delAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2176delC (p.Leu726Phefs)	672	BRCA1	Pathogenic	80357668	RCV000047744; RCV000077508;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245372	41245372	NM_007294.3:c.2176delC	NP_009225.1:p.Leu726Phefs	NC_000017.10:g.41245372delG	Breast Cancer Information Core (BRCA1):2295&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2175C>T (p.Ser725=)	672	BRCA1	Uncertain significance	273898680	RCV000047742; RCV000111779;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245373	41245373	NM_007294.3:c.2175C>T	NP_009225.1:p.Ser725=	NC_000017.10:g.41245373G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2174delG (p.Ser725Thrfs)	672	BRCA1	not provided	397508944	RCV000047741;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245374	41245374	NM_007294.3:c.2174delG	NP_009225.1:p.Ser725Thrfs	NC_000017.10:g.41245374delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2155_2168delAAAGAATTTGTCAA (p.Lys719Serfs)	672	BRCA1	not provided	397508941	RCV000047734;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245380	41245393	NM_007294.3:c.2155_2168delAAAGAATTTGTCAA	NP_009225.1:p.Lys719Serfs	NC_000017.10:g.41245380_41245393delTTGACAAATTCTTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2166delC (p.Asn723Ilefs)	672	BRCA1	not provided	397508943	RCV000047738;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245382	41245382	NM_007294.3:c.2166delC	NP_009225.1:p.Asn723Ilefs	NC_000017.10:g.41245382delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2158G>T (p.Glu720Ter)	672	BRCA1	Pathogenic	80356875	RCV000047737; RCV000031034; RCV000162852;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245390	41245390	NM_007294.3:c.2158G>T	NP_009225.1:p.Glu720Ter	NC_000017.10:g.41245390C>A,NC_000017.10:g.41245390C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2158G>A (p.Glu720Lys)	672	BRCA1	Uncertain significance	80356875	RCV000047736; RCV000077506; RCV000164061;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245390	41245390	NM_007294.3:c.2158G>A	NP_009225.1:p.Glu720Lys	NC_000017.10:g.41245390C>A,NC_000017.10:g.41245390C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2155A>G (p.Lys719Glu)	672	BRCA1	Uncertain significance	80357147	RCV000047732; RCV000111777; RCV000203646; RCV000131665;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245393	41245393	NM_007294.3:c.2155A>G	NP_009225.1:p.Lys719Glu	NC_000017.10:g.41245393T>A,NC_000017.10:g.41245393T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2155A>T (p.Lys719Ter)	672	BRCA1	not provided	80357147	RCV000047733;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245393	41245393	NM_007294.3:c.2155A>T	NP_009225.1:p.Lys719Ter	NC_000017.10:g.41245393T>A,NC_000017.10:g.41245393T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2142delT (p.Asn714Lysfs)	672	BRCA1	Pathogenic	273898679	RCV000047731; RCV000111776;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245406	41245406	NM_007294.3:c.2142delT	NP_009225.1:p.Asn714Lysfs	NC_000017.10:g.41245406delA	Breast Cancer Information Core (BRCA1):2261&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2138C>G (p.Ser713Ter)	672	BRCA1	Pathogenic	80357233	RCV000074571; RCV000031032; RCV000047730; RCV000162851;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245410	41245410	NM_007294.3:c.2138C>G	NP_009225.1:p.Ser713Ter	NC_000017.10:g.41245410G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2130T>G (p.Thr710=)	672	BRCA1	Uncertain significance	273898678	RCV000047729; RCV000111775;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245418	41245418	NM_007294.3:c.2130T>G	NP_009225.1:p.Thr710=	NC_000017.10:g.41245418A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2126_2127delTT (p.Phe709Tyrfs)	672	BRCA1	Pathogenic	397508939	RCV000047723; RCV000213266;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245421	41245422	NM_007294.3:c.2126_2127delTT	NP_009225.1:p.Phe709Tyrfs	NC_000017.10:g.41245421_41245422delAA	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709Tyrfs)	672	BRCA1	Pathogenic	80357871	RCV000047722; RCV000083179;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245422	41245423	NM_007294.3:c.2125_2126insA	NP_009225.1:p.Phe709Tyrfs		Breast Cancer Information Core (BRCA1):2244&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2123C>A (p.Ser708Tyr)	672	BRCA1	Uncertain significance	80357182	RCV000047721; RCV000031028; RCV000129531;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245425	41245425	NM_007294.3:c.2123C>A	NP_009225.1:p.Ser708Tyr	NC_000017.10:g.41245425G>A,NC_000017.10:g.41245425G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2120G>A (p.Gly707Asp)	672	BRCA1	Uncertain significance	80357192	RCV000047720; RCV000111774; RCV000213201;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245428	41245428	NM_007294.3:c.2120G>A	NP_009225.1:p.Gly707Asp	NC_000017.10:g.41245428C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2105T>G (p.Leu702Ter)	672	BRCA1	Pathogenic	80357298	RCV000047710; RCV000111771;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245443	41245443	NM_007294.3:c.2105T>G	NP_009225.1:p.Leu702Ter	NC_000017.10:g.41245443A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2103G>A (p.Lys701=)	672	BRCA1	Likely benign;Uncertain significance	273898677	RCV000047709; RCV000111770; RCV000221737;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245445	41245445	NM_007294.3:c.2103G>A	NP_009225.1:p.Lys701=	NC_000017.10:g.41245445C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2090T>C (p.Phe697Ser)	672	BRCA1	Uncertain significance	730881476	RCV000159962; RCV000204847;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	17	41245458	41245458	NM_007294.3:c.2090T>C	NP_009225.1:p.Phe697Ser	NC_000017.10:g.41245458A>G	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.2086A>G (p.Thr696Ala)	672	BRCA1	Uncertain significance	80357441	RCV000047707; RCV000111767;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245462	41245462	NM_007294.3:c.2086A>G	NP_009225.1:p.Thr696Ala	NC_000017.10:g.41245462T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2086delA (p.Thr696Leufs)	672	BRCA1	not provided	397508937	RCV000047708;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245462	41245462	NM_007294.3:c.2086delA	NP_009225.1:p.Thr696Leufs	NC_000017.10:g.41245462delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2083G>A (p.Asp695Asn)	672	BRCA1	Uncertain significance	28897681	RCV000047705; RCV000111765; RCV000130220;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245465	41245465	NM_007294.3:c.2083G>A	NP_009225.1:p.Asp695Asn	NC_000017.10:g.41245465C>A,NC_000017.10:g.41245465C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2083G>T (p.Asp695Tyr)	672	BRCA1	Benign;Likely benign;Uncertain significance	28897681	RCV000047706; RCV000083177; RCV000166737;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245465	41245465	NM_007294.3:c.2083G>T	NP_009225.1:p.Asp695Tyr	NC_000017.10:g.41245465C>A,NC_000017.10:g.41245465C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2082C>T (p.Ser694=)	672	BRCA1	Benign	1799949	RCV000114984; RCV000111763; RCV000152868; RCV000128966;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41245466	41245466	NM_007294.3:c.2082C>T	NP_009225.1:p.Ser694=	NC_000017.10:g.41245466G>A	Breast Cancer Information Core (BRCA1):2201&base_change=C to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.2079_2080delCA (p.Asp693Glufs)	672	BRCA1	Pathogenic	80357773	RCV000047704; RCV000111762;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245468	41245469	NM_007294.3:c.2079_2080delCA	NP_009225.1:p.Asp693Glufs	NC_000017.10:g.41245468_41245469delTG	Breast Cancer Information Core (BRCA1):2198&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2079C>T (p.Asp693=)	672	BRCA1	Uncertain significance	80356835	RCV000047703; RCV000111761;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245469	41245469	NM_007294.3:c.2079C>T	NP_009225.1:p.Asp693=	NC_000017.10:g.41245469G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn)	672	BRCA1	Benign	4986850	RCV000157727; RCV000111758; RCV000047702; RCV000034730; RCV000120289; RCV000129094;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374; MedGen:CN221809	17	41245471	41245471	NM_007294.3:c.2077G>A	NP_009225.1:p.Asp693Asn	NC_000017.10:g.41245471C>A,NC_000017.10:g.41245471C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00004,HGMD:CM960172	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007294.3(BRCA1):c.2075_2076delAT (p.His692Argfs)	672	BRCA1	not provided	397508936	RCV000047701;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245472	41245473	NM_007294.3:c.2075_2076delAT	NP_009225.1:p.His692Argfs	NC_000017.10:g.41245472_41245473delAT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2074delC (p.His692Metfs)	672	BRCA1	Pathogenic	80357554	RCV000047700; RCV000111757;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245474	41245474	NM_007294.3:c.2074delC	NP_009225.1:p.His692Metfs	NC_000017.10:g.41245474delG	Breast Cancer Information Core (BRCA1):2193&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2071delA (p.Arg691Aspfs)	672	BRCA1	Pathogenic	80357688	RCV000047699; RCV000031025; RCV000167861; RCV000131404;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245477	41245477	NM_007294.3:c.2071delA	NP_009225.1:p.Arg691Aspfs	NC_000017.10:g.41245477delT	Breast Cancer Information Core (BRCA1):2187&base_change=del A,Breast Cancer Information Core (BRCA1):2190&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2063_2066delCAAG (p.Thr688Ilefs)	672	BRCA1	not provided	397508935	RCV000047697;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245482	41245485	NM_007294.3:c.2063_2066delCAAG	NP_009225.1:p.Thr688Ilefs	NC_000017.10:g.41245482_41245485delCTTG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2059C>T (p.Gln687Ter)	672	BRCA1	Pathogenic	273898674	RCV000047695; RCV000111755; RCV000216253;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245489	41245489	NM_007294.3:c.2059C>T	NP_009225.1:p.Gln687Ter	NC_000017.10:g.41245489G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.2050C>T (p.Pro684Ser)	672	BRCA1	Uncertain significance	397508934	RCV000047694; RCV000130395;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245498	41245498	NM_007294.3:c.2050C>T	NP_009225.1:p.Pro684Ser	NC_000017.10:g.41245498G>A,NC_000017.10:g.41245498G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2048delA (p.Lys683Serfs)	672	BRCA1	not provided	397508933	RCV000047693;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245500	41245500	NM_007294.3:c.2048delA	NP_009225.1:p.Lys683Serfs	NC_000017.10:g.41245500delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2037delGinsCC (p.Lys679Asnfs)	672	BRCA1	not provided	397508932	RCV000047690;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245511	41245511	NM_007294.3:c.2037delGinsCC	NP_009225.1:p.Lys679Asnfs	NC_000017.10:g.41245511delCinsGG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2035A>T (p.Lys679Ter)	672	BRCA1	Pathogenic	80357082	RCV000074569; RCV000077505; RCV000047689; RCV000131904;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245513	41245513	NM_007294.3:c.2035A>T	NP_009225.1:p.Lys679Ter	NC_000017.10:g.41245513T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2028_2029delTG (p.Gly677Serfs)	672	BRCA1	not provided	397508931	RCV000047688;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245519	41245520	NM_007294.3:c.2028_2029delTG	NP_009225.1:p.Gly677Serfs	NC_000017.10:g.41245519_41245520delCA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2021delC (p.Pro674Leufs)	672	BRCA1	not provided	397508930	RCV000047687;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245527	41245527	NM_007294.3:c.2021delC	NP_009225.1:p.Pro674Leufs	NC_000017.10:g.41245527delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2017G>T (p.Glu673Ter)	672	BRCA1	Pathogenic	80357391	RCV000047683; RCV000111751; RCV000212166; RCV000131903;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41245531	41245531	NM_007294.3:c.2017G>T	NP_009225.1:p.Glu673Ter	NC_000017.10:g.41245531C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.2017delG (p.Glu673Asnfs)	672	BRCA1	Pathogenic	80357638	RCV000047684; RCV000111752;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245531	41245531	NM_007294.3:c.2017delG	NP_009225.1:p.Glu673Asnfs	NC_000017.10:g.41245531delC	Breast Cancer Information Core (BRCA1):2136&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2014A>T (p.Lys672Ter)	672	BRCA1	not provided	397508929	RCV000047682;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245534	41245534	NM_007294.3:c.2014A>T	NP_009225.1:p.Lys672Ter	NC_000017.10:g.41245534T>A,NC_000017.10:g.41245534T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2012_2013dupGT (p.Lys672Valfs)	672	BRCA1	not provided	397508928	RCV000047681;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245535	41245536	NM_007294.3:c.2012_2013dupGT	NP_009225.1:p.Lys672Valfs	NC_000017.10:g.41245535_41245536dupAC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2008G>A (p.Glu670Lys)	672	BRCA1	Uncertain significance	80357029	RCV000047680; RCV000111749; RCV000132211;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245540	41245540	NM_007294.3:c.2008G>A	NP_009225.1:p.Glu670Lys	NC_000017.10:g.41245540C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2006T>C (p.Met669Thr)	672	BRCA1	Benign;Uncertain significance	80356895	RCV000047679; RCV000031023; RCV000130064;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245542	41245542	NM_007294.3:c.2006T>C	NP_009225.1:p.Met669Thr	NC_000017.10:g.41245542A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1999C>T (p.Gln667Ter)	672	BRCA1	Pathogenic	80356889	RCV000047674; RCV000111748; RCV000162848;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245549	41245549	NM_007294.3:c.1999C>T	NP_009225.1:p.Gln667Ter	NC_000017.10:g.41245549G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1996delC (p.Leu666Tyrfs)	672	BRCA1	Pathogenic	80357922	RCV000047673; RCV000111747;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245552	41245552	NM_007294.3:c.1996delC	NP_009225.1:p.Leu666Tyrfs	NC_000017.10:g.41245552delG	Breast Cancer Information Core (BRCA1):2115&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1995C>G (p.Asn665Lys)	672	BRCA1	Uncertain significance	80357238	RCV000047672; RCV000111746;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245553	41245553	NM_007294.3:c.1995C>G	NP_009225.1:p.Asn665Lys	NC_000017.10:g.41245553G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1985A>G (p.His662Arg)	672	BRCA1	Uncertain significance	80357494	RCV000047671; RCV000111745;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245563	41245563	NM_007294.3:c.1985A>G	NP_009225.1:p.His662Arg	NC_000017.10:g.41245563T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1984C>T (p.His662Tyr)	672	BRCA1	Uncertain significance	397508927	RCV000047670; RCV000129437;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245564	41245564	NM_007294.3:c.1984C>T	NP_009225.1:p.His662Tyr	NC_000017.10:g.41245564G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1969C>T (p.Gln657Ter)	672	BRCA1	not provided	397508926	RCV000047667;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245579	41245579	NM_007294.3:c.1969C>T	NP_009225.1:p.Gln657Ter	NC_000017.10:g.41245579G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1967A>G (p.Asn656Ser)	672	BRCA1	not provided	397508925	RCV000047666;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245581	41245581	NM_007294.3:c.1967A>G	NP_009225.1:p.Asn656Ser	NC_000017.10:g.41245581T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1963_1964insG (p.Tyr655Terfs)	672	BRCA1	not provided	397508924	RCV000047663;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245584	41245585	NM_007294.3:c.1963_1964insG	NP_009225.1:p.Tyr655Terfs	NC_000017.10:g.41245584_41245585insC,NC_000017.10:g.41245585dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1964A>T (p.Tyr655Phe)	672	BRCA1	Uncertain significance	80357193	RCV000047665; RCV000111742;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245584	41245584	NM_007294.3:c.1964A>T	NP_009225.1:p.Tyr655Phe	NC_000017.10:g.41245584T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1963T>G (p.Tyr655Asp)	672	BRCA1	Uncertain significance	80357166	RCV000047662; RCV000111741;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245585	41245585	NM_007294.3:c.1963T>G	NP_009225.1:p.Tyr655Asp	NC_000017.10:g.41245585A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1963dupT (p.Tyr655Leufs)	672	BRCA1	not provided	397508924	RCV000047664;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245585	41245585	NM_007294.3:c.1963dupT	NP_009225.1:p.Tyr655Leufs	NC_000017.10:g.41245584_41245585insC,NC_000017.10:g.41245585dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1958_1961delAAAA (p.Lys653Serfs)	672	BRCA1	not provided	397508923	RCV000047655;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245587	41245590	NM_007294.3:c.1958_1961delAAAA	NP_009225.1:p.Lys653Serfs	NC_000017.10:g.41245587_41245590delTTTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1960_1961delAA (p.Lys654Valfs)	672	BRCA1	Pathogenic	80357643	RCV000047659; RCV000111740;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245587	41245588	NM_007294.3:c.1960_1961delAA	NP_009225.1:p.Lys654Valfs	NC_000017.10:g.41245587_41245588delTT	Breast Cancer Information Core (BRCA1):2079&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1961dupA (p.Tyr655Valfs)	672	BRCA1	Pathogenic	80357853	RCV000047661; RCV000031018; RCV000203641; RCV000130225;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245587	41245587	NM_007294.3:c.1961dupA	NP_009225.1:p.Tyr655Valfs	NC_000017.10:g.41245587dupT	Breast Cancer Information Core (BRCA1):2080&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1960A>G (p.Lys654Glu)	672	BRCA1	not provided	80357355	RCV000047657;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245588	41245588	NM_007294.3:c.1960A>G	NP_009225.1:p.Lys654Glu	NC_000017.10:g.41245588T>A,NC_000017.10:g.41245588T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1953_1956delGAAA (p.Lys653Serfs)	672	BRCA1	Pathogenic	80357526	RCV000047653; RCV000031016; RCV000203663; RCV000131893;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245592	41245595	NM_007294.3:c.1953_1956delGAAA	NP_009225.1:p.Lys653Serfs	NC_000017.10:g.41245592_41245595delTTTC	Breast Cancer Information Core (BRCA1):2017&base_change=del GAAA,Breast Cancer Information Core (BRCA1):2072&base_change=del GAAA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1953dupG (p.Lys652Glufs)	672	BRCA1	Pathogenic	80357753	RCV000047654; RCV000111739; RCV000222152;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245595	41245595	NM_007294.3:c.1953dupG	NP_009225.1:p.Lys652Glufs	NC_000017.10:g.41245595dupC	Breast Cancer Information Core (BRCA1):2072&base_change=ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1952delA (p.Lys651Argfs)	672	BRCA1	Pathogenic	397508922	RCV000074568;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245596	41245596	NM_007294.3:c.1952delA	NP_009225.1:p.Lys651Argfs	NC_000017.10:g.41245596delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1952dupA (p.Lys652Glufs)	672	BRCA1	Pathogenic	80357885	RCV000047652; RCV000111738;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245596	41245596	NM_007294.3:c.1952dupA	NP_009225.1:p.Lys652Glufs	NC_000017.10:g.41245596dupT	Breast Cancer Information Core (BRCA1):2071&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1949_1950delTA (p.Ile650Lysfs)	672	BRCA1	not provided	397508921	RCV000047650;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245598	41245599	NM_007294.3:c.1949_1950delTA	NP_009225.1:p.Ile650Lysfs	NC_000017.10:g.41245598_41245599delTA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1938_1947delCAGTGAAGAG (p.Ser646Argfs)	672	BRCA1	not provided	397508920	RCV000047647;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245601	41245610	NM_007294.3:c.1938_1947delCAGTGAAGAG	NP_009225.1:p.Ser646Argfs	NC_000017.10:g.41245601_41245610delCTCTTCACTG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1945G>C (p.Glu649Gln)	672	BRCA1	Uncertain significance	80356907	RCV000047648; RCV000111736;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245603	41245603	NM_007294.3:c.1945G>C	NP_009225.1:p.Glu649Gln	NC_000017.10:g.41245603C>A,NC_000017.10:g.41245603C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1945G>T (p.Glu649Ter)	672	BRCA1	Pathogenic	80356907	RCV000047649; RCV000111737;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245603	41245603	NM_007294.3:c.1945G>T	NP_009225.1:p.Glu649Ter	NC_000017.10:g.41245603C>A,NC_000017.10:g.41245603C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1936delA (p.Ser646Alafs)	672	BRCA1	not provided	397508919	RCV000047646;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245612	41245612	NM_007294.3:c.1936delA	NP_009225.1:p.Ser646Alafs	NC_000017.10:g.41245612delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1934C>A (p.Ser645Tyr)	672	BRCA1	Uncertain significance	80357129	RCV000047645; RCV000111735; RCV000129530;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245614	41245614	NM_007294.3:c.1934C>A	NP_009225.1:p.Ser645Tyr	NC_000017.10:g.41245614G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1932T>G (p.Cys644Trp)	672	BRCA1	not provided	397508918	RCV000047644;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245616	41245616	NM_007294.3:c.1932T>G	NP_009225.1:p.Cys644Trp	NC_000017.10:g.41245616A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1927A>G (p.Ser643Gly)	672	BRCA1	Uncertain significance	80357105	RCV000047643; RCV000077502;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245621	41245621	NM_007294.3:c.1927A>G	NP_009225.1:p.Ser643Gly	NC_000017.10:g.41245621T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1922T>C (p.Ile641Thr)	672	BRCA1	Uncertain significance	730881474	RCV000159960; RCV000211014; RCV000197816; RCV000166531;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245626	41245626	NM_007294.3:c.1922T>C	NP_009225.1:p.Ile641Thr	NC_000017.10:g.41245626A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1916T>A (p.Leu639Ter)	672	BRCA1	Pathogenic	80357267	RCV000047640; RCV000083175; RCV000212165; RCV000131894;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41245632	41245632	NM_007294.3:c.1916T>A	NP_009225.1:p.Leu639Ter	NC_000017.10:g.41245632A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.1912G>A (p.Glu638Lys)	672	BRCA1	Uncertain significance	80357005	RCV000047637; RCV000031014;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245636	41245636	NM_007294.3:c.1912G>A	NP_009225.1:p.Glu638Lys	NC_000017.10:g.41245636C>A,NC_000017.10:g.41245636C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1912G>T (p.Glu638Ter)	672	BRCA1	Pathogenic	80357005	RCV000047638; RCV000111732;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245636	41245636	NM_007294.3:c.1912G>T	NP_009225.1:p.Glu638Ter	NC_000017.10:g.41245636C>A,NC_000017.10:g.41245636C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1912delG (p.Glu638Asnfs)	672	BRCA1	Pathogenic	80357933	RCV000047639; RCV000111733;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245636	41245636	NM_007294.3:c.1912delG	NP_009225.1:p.Glu638Asnfs	NC_000017.10:g.41245636delC	Breast Cancer Information Core (BRCA1):2031&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1906delT (p.Cys636Valfs)	672	BRCA1	not provided	397508916	RCV000047632;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245642	41245642	NM_007294.3:c.1906delT	NP_009225.1:p.Cys636Valfs	NC_000017.10:g.41245642delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1901C>G (p.Pro634Arg)	672	BRCA1	Uncertain significance	80357121	RCV000047631; RCV000111729;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245647	41245647	NM_007294.3:c.1901C>G	NP_009225.1:p.Pro634Arg	NC_000017.10:g.41245647G>A,NC_000017.10:g.41245647G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1900C>T (p.Pro634Ser)	672	BRCA1	Uncertain significance	80357056	RCV000047630; RCV000111728;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245648	41245648	NM_007294.3:c.1900C>T	NP_009225.1:p.Pro634Ser	NC_000017.10:g.41245648G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1898delC (p.Pro633Hisfs)	672	BRCA1	Pathogenic	80357851	RCV000047627; RCV000111727;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245650	41245650	NM_007294.3:c.1898delC	NP_009225.1:p.Pro633Hisfs	NC_000017.10:g.41245650delG	Breast Cancer Information Core (BRCA1):2017&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1897C>A (p.Pro633Thr)	672	BRCA1	Uncertain significance	80356902	RCV000047625; RCV000111725;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245651	41245651	NM_007294.3:c.1897C>A	NP_009225.1:p.Pro633Thr	NC_000017.10:g.41245651G>A,NC_000017.10:g.41245651G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1895G>A (p.Ser632Asn)	672	BRCA1	Uncertain significance	80356983	RCV000047624; RCV000111724; RCV000221118;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245653	41245653	NM_007294.3:c.1895G>A	NP_009225.1:p.Ser632Asn	NC_000017.10:g.41245653C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1893A>G (p.Leu631=)	672	BRCA1	Uncertain significance	80356834	RCV000047623; RCV000111722;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245655	41245655	NM_007294.3:c.1893A>G	NP_009225.1:p.Leu631=	NC_000017.10:g.41245655T>C,NC_000017.10:g.41245655T>G	Breast Cancer Information Core (BRCA1):2012&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1884T>G (p.Ser628Arg)	672	BRCA1	Uncertain significance	80357495	RCV000047619; RCV000111720; RCV000131931;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245664	41245664	NM_007294.3:c.1884T>G	NP_009225.1:p.Ser628Arg	NC_000017.10:g.41245664A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1881C>G (p.Val627=)	672	BRCA1	Uncertain significance	80356838	RCV000047617; RCV000111719; RCV000212164; RCV000165591;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41245667	41245667	NM_007294.3:c.1881C>G	NP_009225.1:p.Val627=	NC_000017.10:g.41245667G>A,NC_000017.10:g.41245667G>C	Breast Cancer Information Core (BRCA1):2000&base_change=C to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.1879G>A (p.Val627Ile)	672	BRCA1	Uncertain significance	80357425	RCV000047616; RCV000111712; RCV000130566;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245669	41245669	NM_007294.3:c.1879G>A	NP_009225.1:p.Val627Ile	NC_000017.10:g.41245669C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs)	672	BRCA1	Pathogenic	80357516	RCV000047615; RCV000111711; RCV000167828; RCV000132134;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245671	41245674	NM_007294.3:c.1874_1877dupTAGT	NP_009225.1:p.Val627Serfs		Breast Cancer Information Core (BRCA1):1996&base_change=ins TAGT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1870G>A (p.Glu624Lys)	672	BRCA1	Uncertain significance	80356950	RCV000047613; RCV000111702;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245678	41245678	NM_007294.3:c.1870G>A	NP_009225.1:p.Glu624Lys	NC_000017.10:g.41245678C>A,NC_000017.10:g.41245678C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1870G>T (p.Glu624Ter)	672	BRCA1	Pathogenic	80356950	RCV000047614; RCV000111703;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245678	41245678	NM_007294.3:c.1870G>T	NP_009225.1:p.Glu624Ter	NC_000017.10:g.41245678C>A,NC_000017.10:g.41245678C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1868T>C (p.Leu623Pro)	672	BRCA1	not provided	397508915	RCV000047612;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245680	41245680	NM_007294.3:c.1868T>C	NP_009225.1:p.Leu623Pro	NC_000017.10:g.41245680A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1866G>T (p.Ala622=)	672	BRCA1	Uncertain significance	1800064	RCV000047611; RCV000111701;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245682	41245682	NM_007294.3:c.1866G>T	NP_009225.1:p.Ala622=	NC_000017.10:g.41245682C>A,NC_000017.10:g.41245682C>T	Breast Cancer Information Core (BRCA1):1985&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1648_1860del213 (p.Asn550_Ile620del)	672	BRCA1	Uncertain significance	80359886	RCV000047550; RCV000111660;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245688	41245900	NM_007294.3:c.1648_1860del213	NP_009225.1:p.Asn550_Ile620del	NC_000017.10:g.41245688_41245900del213	Breast Cancer Information Core (BRCA1):1767&base_change=del 213	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1860delT (p.His621Metfs)	672	BRCA1	Pathogenic	730881459	RCV000159903;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245688	41245688	NM_007294.3:c.1860delT	NP_009225.1:p.His621Metfs	NC_000017.10:g.41245688delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del)	672	BRCA1	Benign;Likely benign;Uncertain significance	80358329	RCV000159872; RCV000031011; RCV000047608; RCV000131329;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245700	41245702	NM_007294.3:c.1846_1848delTCT	NP_009225.1:p.Ser616del	NC_000017.10:g.41245700_41245702delAGA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1846dupT (p.Ser616Phefs)	672	BRCA1	not provided	397508914	RCV000047609;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245702	41245702	NM_007294.3:c.1846dupT	NP_009225.1:p.Ser616Phefs	NC_000017.10:g.41245702dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1840A>T (p.Lys614Ter)	672	BRCA1	Pathogenic	80357282	RCV000047607; RCV000111698;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245708	41245708	NM_007294.3:c.1840A>T	NP_009225.1:p.Lys614Ter	NC_000017.10:g.41245708T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1837delA (p.Arg613Glyfs)	672	BRCA1	Pathogenic	80357652	RCV000047606; RCV000111697;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245711	41245711	NM_007294.3:c.1837delA	NP_009225.1:p.Arg613Glyfs	NC_000017.10:g.41245711delT	Breast Cancer Information Core (BRCA1):1956&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1831delC (p.Leu611Terfs)	672	BRCA1	not provided	397508913	RCV000047604;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245717	41245717	NM_007294.3:c.1831delC	NP_009225.1:p.Leu611Terfs	NC_000017.10:g.41245717delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1826A>G (p.Asn609Ser)	672	BRCA1	Uncertain significance	80357236	RCV000047601; RCV000031010;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245722	41245722	NM_007294.3:c.1826A>G	NP_009225.1:p.Asn609Ser	NC_000017.10:g.41245722T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1823_1826delAGAA (p.Lys608Ilefs)	672	BRCA1	Pathogenic	80357585	RCV000047598; RCV000111693; RCV000131901;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245722	41245725	NM_007294.3:c.1823_1826delAGAA	NP_009225.1:p.Lys608Ilefs	NC_000017.10:g.41245722_41245725delTTCT	Breast Cancer Information Core (BRCA1):1492&base_change=del AGAA,Breast Cancer Information Core (BRCA1):1940&base_change=del AAAG,Breast Cancer Informa	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1825delA (p.Asn609Ilefs)	672	BRCA1	Pathogenic	80357736	RCV000047600; RCV000111694;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245723	41245723	NM_007294.3:c.1825delA	NP_009225.1:p.Asn609Ilefs	NC_000017.10:g.41245723delT	Breast Cancer Information Core (BRCA1):1944&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1823delA (p.Lys608Argfs)	672	BRCA1	not provided	397508911	RCV000047599;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245725	41245725	NM_007294.3:c.1823delA	NP_009225.1:p.Lys608Argfs	NC_000017.10:g.41245725delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1819A>T (p.Lys607Ter)	672	BRCA1	Pathogenic	80357220	RCV000047594; RCV000111691;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245729	41245729	NM_007294.3:c.1819A>T	NP_009225.1:p.Lys607Ter	NC_000017.10:g.41245729T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1817delC (p.Pro606Leufs)	672	BRCA1	not provided	397508910	RCV000047593;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245731	41245731	NM_007294.3:c.1817delC	NP_009225.1:p.Pro606Leufs	NC_000017.10:g.41245731delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1812delA (p.Ala605Hisfs)	672	BRCA1	Pathogenic	80357927	RCV000159902; RCV000111690; RCV000204705; RCV000166934;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245736	41245736	NM_007294.3:c.1812delA	NP_009225.1:p.Ala605Hisfs	NC_000017.10:g.41245736delT	Breast Cancer Information Core (BRCA1):1931&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1808C>G (p.Ser603Ter)	672	BRCA1	not provided	397508909	RCV000047592;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245740	41245740	NM_007294.3:c.1808C>G	NP_009225.1:p.Ser603Ter	NC_000017.10:g.41245740G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1805delA (p.Asn602Ilefs)	672	BRCA1	not provided	397508908	RCV000047591;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245743	41245743	NM_007294.3:c.1805delA	NP_009225.1:p.Asn602Ilefs	NC_000017.10:g.41245743delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1800C>G (p.Ile600Met)	672	BRCA1	Uncertain significance	80357452	RCV000047590; RCV000111688;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245748	41245748	NM_007294.3:c.1800C>G	NP_009225.1:p.Ile600Met	NC_000017.10:g.41245748G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1793T>G (p.Leu598Ter)	672	BRCA1	Pathogenic	80357118	RCV000047588; RCV000111687; RCV000162846;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245755	41245755	NM_007294.3:c.1793T>G	NP_009225.1:p.Leu598Ter	NC_000017.10:g.41245755A>C,NC_000017.10:g.41245755A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1789G>T (p.Glu597Ter)	672	BRCA1	Pathogenic	55650082	RCV000047584; RCV000111684;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245759	41245759	NM_007294.3:c.1789G>T	NP_009225.1:p.Glu597Ter	NC_000017.10:g.41245759C>A,NC_000017.10:g.41245759C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1786C>G (p.Leu596Val)	672	BRCA1	Uncertain significance	80357371	RCV000047582; RCV000111683;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245762	41245762	NM_007294.3:c.1786C>G	NP_009225.1:p.Leu596Val	NC_000017.10:g.41245762G>A,NC_000017.10:g.41245762G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1772T>C (p.Ile591Thr)	672	BRCA1	Benign;Likely benign;Uncertain significance	80356859	RCV000047580; RCV000083172; RCV000220799;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245776	41245776	NM_007294.3:c.1772T>C	NP_009225.1:p.Ile591Thr	NC_000017.10:g.41245776A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1772delT (p.Ile591Lysfs)	672	BRCA1	Pathogenic	80357901	RCV000047581; RCV000111678;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245776	41245776	NM_007294.3:c.1772delT	NP_009225.1:p.Ile591Lysfs	NC_000017.10:g.41245776delA	Breast Cancer Information Core (BRCA1):1891&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1768A>G (p.Ser590Gly)	672	BRCA1	Uncertain significance	80357454	RCV000047579; RCV000111676;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245780	41245780	NM_007294.3:c.1768A>G	NP_009225.1:p.Ser590Gly	NC_000017.10:g.41245780T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1757delC (p.Pro586Leufs)	672	BRCA1	Pathogenic	80357723	RCV000047578; RCV000111675; RCV000132331;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245791	41245791	NM_007294.3:c.1757delC	NP_009225.1:p.Pro586Leufs	NC_000017.10:g.41245791delG	Breast Cancer Information Core (BRCA1):1876&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1756C>T (p.Pro586Ser)	672	BRCA1	Uncertain significance	80357153	RCV000047577; RCV000111674;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245792	41245792	NM_007294.3:c.1756C>T	NP_009225.1:p.Pro586Ser	NC_000017.10:g.41245792G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1747A>T (p.Lys583Ter)	672	BRCA1	Pathogenic	80356928	RCV000047576; RCV000111673;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245801	41245801	NM_007294.3:c.1747A>T	NP_009225.1:p.Lys583Ter	NC_000017.10:g.41245801T>A,NC_000017.10:g.41245801T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1744A>G (p.Thr582Ala)	672	BRCA1	not provided	397508906	RCV000047575;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245804	41245804	NM_007294.3:c.1744A>G	NP_009225.1:p.Thr582Ala	NC_000017.10:g.41245804T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1741A>T (p.Lys581Ter)	672	BRCA1	not provided	397508905	RCV000047574;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245807	41245807	NM_007294.3:c.1741A>T	NP_009225.1:p.Lys581Ter	NC_000017.10:g.41245807T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1733C>A (p.Ser578Tyr)	672	BRCA1	Uncertain significance	80356939	RCV000047573; RCV000111672;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245815	41245815	NM_007294.3:c.1733C>A	NP_009225.1:p.Ser578Tyr	NC_000017.10:g.41245815G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1729_1730delGA (p.Glu577Ilefs)	672	BRCA1	Pathogenic	80357834	RCV000047571; RCV000111670;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245818	41245819	NM_007294.3:c.1729_1730delGA	NP_009225.1:p.Glu577Ilefs	NC_000017.10:g.41245818_41245819delTC	Breast Cancer Information Core (BRCA1):1848&base_change=del GA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1729G>T (p.Glu577Ter)	672	BRCA1	not provided	397508903	RCV000047570;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245819	41245819	NM_007294.3:c.1729G>T	NP_009225.1:p.Glu577Ter	NC_000017.10:g.41245819C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1713_1717delAGAAT (p.Glu572Thrfs)	672	BRCA1	Pathogenic	80357640	RCV000047566; RCV000077494;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245831	41245835	NM_007294.3:c.1713_1717delAGAAT	NP_009225.1:p.Glu572Thrfs	NC_000017.10:g.41245831_41245835delATTCT	Breast Cancer Information Core (BRCA1):1832&base_change=del AGAAT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1716delA (p.Glu572Aspfs)	672	BRCA1	not provided	397508900	RCV000047567;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245832	41245832	NM_007294.3:c.1716delA	NP_009225.1:p.Glu572Aspfs	NC_000017.10:g.41245832delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1716dupA (p.Ser573Ilefs)	672	BRCA1	not provided	397508901	RCV000047568;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245832	41245832	NM_007294.3:c.1716dupA	NP_009225.1:p.Ser573Ilefs	NC_000017.10:g.41245832dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1703C>G (p.Pro568Arg)	672	BRCA1	Uncertain significance	80356910	RCV000047563; RCV000111667; RCV000129818;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245845	41245845	NM_007294.3:c.1703C>G	NP_009225.1:p.Pro568Arg	NC_000017.10:g.41245845G>A,NC_000017.10:g.41245845G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1700delA (p.Asn567Ilefs)	672	BRCA1	not provided	397508899	RCV000047562;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245848	41245848	NM_007294.3:c.1700delA	NP_009225.1:p.Asn567Ilefs	NC_000017.10:g.41245848delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1690A>C (p.Asn564His)	672	BRCA1	not provided	397507191	RCV000047561;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245858	41245858	NM_007294.3:c.1690A>C	NP_009225.1:p.Asn564His	NC_000017.10:g.41245858T>A,NC_000017.10:g.41245858T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1687C>T (p.Gln563Ter)	672	BRCA1	Pathogenic	80356898	RCV000159956; RCV000031007; RCV000047559; RCV000131897;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41245861	41245861	NM_007294.3:c.1687C>T	NP_009225.1:p.Gln563Ter	NC_000017.10:g.41245861G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1676G>T (p.Gly559Val)	672	BRCA1	Uncertain significance	80356980	RCV000047557; RCV000111662;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245872	41245872	NM_007294.3:c.1676G>T	NP_009225.1:p.Gly559Val	NC_000017.10:g.41245872C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1669A>G (p.Thr557Ala)	672	BRCA1	not provided	397508895	RCV000047554;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245879	41245879	NM_007294.3:c.1669A>G	NP_009225.1:p.Thr557Ala	NC_000017.10:g.41245879T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1660G>T (p.Glu554Ter)	672	BRCA1	not provided	397508894	RCV000047553;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245888	41245888	NM_007294.3:c.1660G>T	NP_009225.1:p.Glu554Ter	NC_000017.10:g.41245888C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1655G>T (p.Gly552Val)	672	BRCA1	not provided	397508893	RCV000047552;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245893	41245893	NM_007294.3:c.1655G>T	NP_009225.1:p.Gly552Val	NC_000017.10:g.41245893C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1636_1654del19 (p.Met546Valfs)	672	BRCA1	Pathogenic	80359881	RCV000047547; RCV000111657;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245894	41245912	NM_007294.3:c.1636_1654del19	NP_009225.1:p.Met546Valfs	NC_000017.10:g.41245894_41245912del19	Breast Cancer Information Core (BRCA1):1755&base_change=del 19	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1649delA (p.Asn550Ilefs)	672	BRCA1	Pathogenic	80357619	RCV000047551; RCV000111661;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245899	41245899	NM_007294.3:c.1649delA	NP_009225.1:p.Asn550Ilefs	NC_000017.10:g.41245899delT	Breast Cancer Information Core (BRCA1):1768&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1642A>G (p.Ile548Val)	672	BRCA1	Uncertain significance	80356981	RCV000047548; RCV000111659;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245906	41245906	NM_007294.3:c.1642A>G	NP_009225.1:p.Ile548Val	NC_000017.10:g.41245906T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1631A>C (p.Gln544Pro)	672	BRCA1	not provided	397508892	RCV000047546;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245917	41245917	NM_007294.3:c.1631A>C	NP_009225.1:p.Gln544Pro	NC_000017.10:g.41245917T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1630C>T (p.Gln544Ter)	672	BRCA1	Pathogenic	80356952	RCV000047545; RCV000111656;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245918	41245918	NM_007294.3:c.1630C>T	NP_009225.1:p.Gln544Ter	NC_000017.10:g.41245918G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1623dupG (p.Asn542Glufs)	672	BRCA1	not provided	397508891	RCV000047544;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245925	41245925	NM_007294.3:c.1623dupG	NP_009225.1:p.Asn542Glufs	NC_000017.10:g.41245925dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1621C>T (p.Gln541Ter)	672	BRCA1	Pathogenic	80356904	RCV000047543; RCV000077493;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245927	41245927	NM_007294.3:c.1621C>T	NP_009225.1:p.Gln541Ter	NC_000017.10:g.41245927G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1616C>T (p.Thr539Met)	672	BRCA1	Likely benign;Uncertain significance	80357374	RCV000047542; RCV000111655; RCV000120282; RCV000162708;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41245932	41245932	NM_007294.3:c.1616C>T	NP_009225.1:p.Thr539Met	NC_000017.10:g.41245932G>A,NC_000017.10:g.41245932G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.1612C>T (p.Gln538Ter)	672	BRCA1	Pathogenic	80356893	RCV000047541; RCV000077492;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245936	41245936	NM_007294.3:c.1612C>T	NP_009225.1:p.Gln538Ter	NC_000017.10:g.41245936G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1608_1611delTAAC (p.Asn537Lysfs)	672	BRCA1	Pathogenic	80357698	RCV000047538; RCV000111653;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245937	41245940	NM_007294.3:c.1608_1611delTAAC	NP_009225.1:p.Asn537Lysfs	NC_000017.10:g.41245937_41245940delGTTA	Breast Cancer Information Core (BRCA1):1727&base_change=del TAAC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1595_1601delTAAATCA (p.Ile532Argfs)	672	BRCA1	not provided	397508888	RCV000047534;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245947	41245953	NM_007294.3:c.1595_1601delTAAATCA	NP_009225.1:p.Ile532Argfs	NC_000017.10:g.41245947_41245953delTGATTTA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1601A>G (p.Gln534Arg)	672	BRCA1	Uncertain significance	80357173	RCV000047536; RCV000111652;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245947	41245947	NM_007294.3:c.1601A>G	NP_009225.1:p.Gln534Arg	NC_000017.10:g.41245947T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1601dupA (p.Thr536Asnfs)	672	BRCA1	not provided	397508889	RCV000047537;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245947	41245947	NM_007294.3:c.1601dupA	NP_009225.1:p.Thr536Asnfs	NC_000017.10:g.41245947dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1600C>T (p.Gln534Ter)	672	BRCA1	not provided	142074233	RCV000047535;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245948	41245948	NM_007294.3:c.1600C>T	NP_009225.1:p.Gln534Ter	NC_000017.10:g.41245948G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1583_1589delCTCCTGA (p.Thr528Lysfs)	672	BRCA1	Pathogenic	80357613	RCV000047533; RCV000111651;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245959	41245965	NM_007294.3:c.1583_1589delCTCCTGA	NP_009225.1:p.Thr528Lysfs	NC_000017.10:g.41245959_41245965delTCAGGAG	Breast Cancer Information Core (BRCA1):1701&base_change=del ACTCCTG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1581G>C (p.Lys527Asn)	672	BRCA1	Uncertain significance	80357493	RCV000047532; RCV000111650; RCV000132496;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245967	41245967	NM_007294.3:c.1581G>C	NP_009225.1:p.Lys527Asn	NC_000017.10:g.41245967C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1576C>T (p.Gln526Ter)	672	BRCA1	Pathogenic	80356984	RCV000047531; RCV000111649; RCV000131839;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245972	41245972	NM_007294.3:c.1576C>T	NP_009225.1:p.Gln526Ter	NC_000017.10:g.41245972G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1573G>A (p.Val525Ile)	672	BRCA1	Likely benign;Uncertain significance	80357273	RCV000047530; RCV000077491; RCV000214482;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41245975	41245975	NM_007294.3:c.1573G>A	NP_009225.1:p.Val525Ile	NC_000017.10:g.41245975C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1570delG (p.Ala524Glnfs)	672	BRCA1	not provided	397508886	RCV000047528;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245978	41245978	NM_007294.3:c.1570delG	NP_009225.1:p.Ala524Glnfs	NC_000017.10:g.41245978delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1568T>G (p.Leu523Trp)	672	BRCA1	Uncertain significance	397508885	RCV000047527; RCV000129756;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245980	41245980	NM_007294.3:c.1568T>G	NP_009225.1:p.Leu523Trp	NC_000017.10:g.41245980A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1565_1566insC (p.Leu523Phefs)	672	BRCA1	not provided	397508884	RCV000047526;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245982	41245983	NM_007294.3:c.1565_1566insC	NP_009225.1:p.Leu523Phefs	NC_000017.10:g.41245982_41245983insG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1561_1564delGCAGinsTAAA (p.Ala521Ter)	672	BRCA1	not provided	397508883	RCV000047524;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245984	41245987	NM_007294.3:c.1561_1564delGCAGinsTAAA	NP_009225.1:p.Ala521Ter	NC_000017.10:g.41245984_41245987delCTGCinsTTTA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1564G>A (p.Asp522Asn)	672	BRCA1	Uncertain significance	80357453	RCV000047525; RCV000077490;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245984	41245984	NM_007294.3:c.1564G>A	NP_009225.1:p.Asp522Asn	NC_000017.10:g.41245984C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1561G>A (p.Ala521Thr)	672	BRCA1	Likely benign;Uncertain significance	80357122	RCV000047523; RCV000111646; RCV000195389; RCV000120288; RCV000130445;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41245987	41245987	NM_007294.3:c.1561G>A	NP_009225.1:p.Ala521Thr	NC_000017.10:g.41245987C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.1556delA (p.Lys519Argfs)	672	BRCA1	Pathogenic	80357662	RCV000047522; RCV000019255; RCV000129703;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41245992	41245992	NM_007294.3:c.1556delA	NP_009225.1:p.Lys519Argfs	NC_000017.10:g.41245992delT	Breast Cancer Information Core (BRCA1):1675&base_change=del A,OMIM Allelic Variant:113705.0026	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1555A>C (p.Lys519Gln)	672	BRCA1	not provided	397508882	RCV000047521;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41245993	41245993	NM_007294.3:c.1555A>C	NP_009225.1:p.Lys519Gln	NC_000017.10:g.41245993T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1544A>G (p.Glu515Gly)	672	BRCA1	not provided	397508881	RCV000047518;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246004	41246004	NM_007294.3:c.1544A>G	NP_009225.1:p.Glu515Gly	NC_000017.10:g.41246004T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1534C>T (p.Leu512Phe)	672	BRCA1	Likely benign;Uncertain significance	41286294	RCV000047517; RCV000031001; RCV000167769; RCV000173839; RCV000131272;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41246014	41246014	NM_007294.3:c.1534C>T	NP_009225.1:p.Leu512Phe	NC_000017.10:g.41246014G>A,NC_000017.10:g.41246014G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.1530delA (p.Gly511Alafs)	672	BRCA1	Pathogenic	80357735	RCV000047516; RCV000111644; RCV000221019;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246018	41246018	NM_007294.3:c.1530delA	NP_009225.1:p.Gly511Alafs	NC_000017.10:g.41246018delT	Breast Cancer Information Core (BRCA1):1649&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1529C>G (p.Ser510Ter)	672	BRCA1	Pathogenic	80357427	RCV000047515; RCV000111643;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246019	41246019	NM_007294.3:c.1529C>G	NP_009225.1:p.Ser510Ter	NC_000017.10:g.41246019G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1523delC (p.Pro508Leufs)	672	BRCA1	Pathogenic	80357782	RCV000047514; RCV000111642;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246025	41246025	NM_007294.3:c.1523delC	NP_009225.1:p.Pro508Leufs	NC_000017.10:g.41246025delG	Breast Cancer Information Core (BRCA1):1642&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1517_1521delGGAGA (p.Arg506Thrfs)	672	BRCA1	not provided	397508879	RCV000047511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246027	41246031	NM_007294.3:c.1517_1521delGGAGA	NP_009225.1:p.Arg506Thrfs	NC_000017.10:g.41246027_41246031delTCTCC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1520G>T (p.Arg507Ile)	672	BRCA1	Uncertain significance	80357224	RCV000047513; RCV000111640;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246028	41246028	NM_007294.3:c.1520G>T	NP_009225.1:p.Arg507Ile	NC_000017.10:g.41246028C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1519A>T (p.Arg507Ter)	672	BRCA1	not provided	397508880	RCV000047512;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246029	41246029	NM_007294.3:c.1519A>T	NP_009225.1:p.Arg507Ter	NC_000017.10:g.41246029T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1504_1518delTTAAAGCGTAAAAGG (p.Leu502_Arg506del)	672	BRCA1	not provided	397508875	RCV000047500;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246030	41246044	NM_007294.3:c.1504_1518delTTAAAGCGTAAAAGG	NP_009225.1:p.Leu502_Arg506del	NC_000017.10:g.41246030_41246044delCCTTTTACGCTTTAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1513_1514insT (p.Lys505Ilefs)	672	BRCA1	not provided	397508878	RCV000047510;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246034	41246035	NM_007294.3:c.1513_1514insT	NP_009225.1:p.Lys505Ilefs	NC_000017.10:g.41246034_41246035insA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1513A>T (p.Lys505Ter)	672	BRCA1	not provided	397508877	RCV000047509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246035	41246035	NM_007294.3:c.1513A>T	NP_009225.1:p.Lys505Ter	NC_000017.10:g.41246035T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1511dupG (p.Lys505Terfs)	672	BRCA1	Pathogenic	80357817	RCV000047508; RCV000111638;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246037	41246037	NM_007294.3:c.1511dupG	NP_009225.1:p.Lys505Terfs	NC_000017.10:g.41246037dupC	Breast Cancer Information Core (BRCA1):1630&base_change=ins G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1510delC (p.Arg504Valfs)	672	BRCA1	Pathogenic	80357908	RCV000047506; RCV000030999; RCV000130024;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246038	41246038	NM_007294.3:c.1510delC	NP_009225.1:p.Arg504Valfs	NC_000017.10:g.41246038delG	Breast Cancer Information Core (BRCA1):1629&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1506_1510delAAAGC (p.Lys503Terfs)	672	BRCA1	not provided	397508876	RCV000047501;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246038	41246042	NM_007294.3:c.1506_1510delAAAGC	NP_009225.1:p.Lys503Terfs	NC_000017.10:g.41246038_41246042delGCTTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1510C>T (p.Arg504Cys)	672	BRCA1	Uncertain significance	80357445	RCV000207331; RCV000111635; RCV000047505; RCV000129280;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246038	41246038	NM_007294.3:c.1510C>T	NP_009225.1:p.Arg504Cys	NC_000017.10:g.41246038G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs)	672	BRCA1	Pathogenic	80357888	RCV000047499; RCV000030998; RCV000210987; RCV000131841;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246040	41246044	NM_007294.3:c.1504_1508delTTAAA	NP_009225.1:p.Leu502Alafs	NC_000017.10:g.41246040_41246044delTTTAA	Breast Cancer Information Core (BRCA1):1623&base_change=del TTAAA,Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.:IBR-18	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1499_1508dupATAAATTAAA (p.Arg504Terfs)	672	BRCA1	not provided	397508873	RCV000047497;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246040	41246049	NM_007294.3:c.1499_1508dupATAAATTAAA	NP_009225.1:p.Arg504Terfs	NC_000017.10:g.41246040_41246049dupTTTAATTTAT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1508A>G (p.Lys503Arg)	672	BRCA1	Likely benign;Uncertain significance	62625304	RCV000047502; RCV000111633; RCV000195388; RCV000132145;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246040	41246040	NM_007294.3:c.1508A>G	NP_009225.1:p.Lys503Arg	NC_000017.10:g.41246040T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1508delA (p.Lys503Serfs)	672	BRCA1	Pathogenic	80357506	RCV000047503; RCV000111634;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246040	41246040	NM_007294.3:c.1508delA	NP_009225.1:p.Lys503Serfs	NC_000017.10:g.41246040delT	Breast Cancer Information Core (BRCA1):1627&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1497_1500delAAAT (p.Lys501Terfs)	672	BRCA1	Pathogenic	80357632	RCV000047496; RCV000111632;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246048	41246051	NM_007294.3:c.1497_1500delAAAT	NP_009225.1:p.Lys501Terfs	NC_000017.10:g.41246048_41246051delATTT	Breast Cancer Information Core (BRCA1):1616&base_change=del AAAT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1499delA (p.Asn500Ilefs)	672	BRCA1	not provided	397508874	RCV000047498;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246049	41246049	NM_007294.3:c.1499delA	NP_009225.1:p.Asn500Ilefs	NC_000017.10:g.41246049delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1483_1498del16 (p.Glu495Ilefs)	672	BRCA1	not provided	397508872	RCV000047491;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246050	41246065	NM_007294.3:c.1483_1498del16	NP_009225.1:p.Glu495Ilefs	NC_000017.10:g.41246050_41246065del16	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1492delC (p.Leu498Serfs)	672	BRCA1	Pathogenic	80357527	RCV000047495; RCV000111631;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246056	41246056	NM_007294.3:c.1492delC	NP_009225.1:p.Leu498Serfs	NC_000017.10:g.41246056delG	Breast Cancer Information Core (BRCA1):1611&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1486C>A (p.Arg496Ser)	672	BRCA1	Uncertain significance	28897676	RCV000047492; RCV000111628;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246062	41246062	NM_007294.3:c.1486C>A	NP_009225.1:p.Arg496Ser	NC_000017.10:g.41246062G>A,NC_000017.10:g.41246062G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter)	672	BRCA1	Pathogenic	80357010	RCV000047490; RCV000030996; RCV000223308;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246068	41246068	NM_007294.3:c.1480C>T	NP_009225.1:p.Gln494Ter	NC_000017.10:g.41246068G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1472A>G (p.Gln491Arg)	672	BRCA1	Uncertain significance	80357376	RCV000047489; RCV000111627;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246076	41246076	NM_007294.3:c.1472A>G	NP_009225.1:p.Gln491Arg	NC_000017.10:g.41246076T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1471C>T (p.Gln491Ter)	672	BRCA1	Pathogenic	62625303	RCV000047488; RCV000111626; RCV000131842;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246077	41246077	NM_007294.3:c.1471C>T	NP_009225.1:p.Gln491Ter	NC_000017.10:g.41246077G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1465G>A (p.Glu489Lys)	672	BRCA1	Uncertain significance	80357167	RCV000047485; RCV000111625;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246083	41246083	NM_007294.3:c.1465G>A	NP_009225.1:p.Glu489Lys	NC_000017.10:g.41246083C>A,NC_000017.10:g.41246083C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1465G>T (p.Glu489Ter)	672	BRCA1	not provided	80357167	RCV000047486;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246083	41246083	NM_007294.3:c.1465G>T	NP_009225.1:p.Glu489Ter	NC_000017.10:g.41246083C>A,NC_000017.10:g.41246083C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1459G>T (p.Val487Phe)	672	BRCA1	Likely benign;Uncertain significance	369588942	RCV000159870; RCV000030995; RCV000130777;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246089	41246089	NM_007294.3:c.1459G>T	NP_009225.1:p.Val487Phe	NC_000017.10:g.41246089C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1458T>A (p.Phe486Leu)	672	BRCA1	not provided	80357400	RCV000047483;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246090	41246090	NM_007294.3:c.1458T>A	NP_009225.1:p.Phe486Leu	NC_000017.10:g.41246090A>C,NC_000017.10:g.41246090A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1458T>G (p.Phe486Leu)	672	BRCA1	Uncertain significance	80357400	RCV000047484; RCV000111623;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246090	41246090	NM_007294.3:c.1458T>G	NP_009225.1:p.Phe486Leu	NC_000017.10:g.41246090A>C,NC_000017.10:g.41246090A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1450G>T (p.Gly484Ter)	672	BRCA1	Pathogenic	80357304	RCV000047481; RCV000111620;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246098	41246098	NM_007294.3:c.1450G>T	NP_009225.1:p.Gly484Ter	NC_000017.10:g.41246098C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1446_1448delTAT (p.Ile483del)	672	BRCA1	Uncertain significance	80358327	RCV000047478; RCV000111619;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246100	41246102	NM_007294.3:c.1446_1448delTAT	NP_009225.1:p.Ile483del	NC_000017.10:g.41246100_41246102delATA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1444delA (p.Ile482Leufs)	672	BRCA1	Pathogenic	80357648	RCV000047477; RCV000111618;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246104	41246104	NM_007294.3:c.1444delA	NP_009225.1:p.Ile482Leufs	NC_000017.10:g.41246104delT	Breast Cancer Information Core (BRCA1):1563&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1427A>G (p.His476Arg)	672	BRCA1	Benign;Likely benign;Uncertain significance	55720177	RCV000047473; RCV000111616; RCV000167831; RCV000120270; RCV000130932;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41246121	41246121	NM_007294.3:c.1427A>G	NP_009225.1:p.His476Arg	NC_000017.10:g.41246121T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.1421T>G (p.Leu474Ter)	672	BRCA1	Pathogenic	80357490	RCV000047472; RCV000111615;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246127	41246127	NM_007294.3:c.1421T>G	NP_009225.1:p.Leu474Ter	NC_000017.10:g.41246127A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1418A>G (p.Asn473Ser)	672	BRCA1	Benign	80357057	RCV000047470; RCV000111612;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246130	41246130	NM_007294.3:c.1418A>G	NP_009225.1:p.Asn473Ser	NC_000017.10:g.41246130T>A,NC_000017.10:g.41246130T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00062	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1418A>T (p.Asn473Ile)	672	BRCA1	Uncertain significance	80357057	RCV000047471; RCV000111613; RCV000215347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246130	41246130	NM_007294.3:c.1418A>T	NP_009225.1:p.Asn473Ile	NC_000017.10:g.41246130T>A,NC_000017.10:g.41246130T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1406C>G (p.Ala469Gly)	672	BRCA1	Uncertain significance	80357073	RCV000047467; RCV000111611;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246142	41246142	NM_007294.3:c.1406C>G	NP_009225.1:p.Ala469Gly	NC_000017.10:g.41246142G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1405delG (p.Ala469Glnfs)	672	BRCA1	not provided	397508871	RCV000047466;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246143	41246143	NM_007294.3:c.1405delG	NP_009225.1:p.Ala469Glnfs	NC_000017.10:g.41246143delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1403delA (p.Lys468Argfs)	672	BRCA1	not provided	397508870	RCV000047465;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246145	41246145	NM_007294.3:c.1403delA	NP_009225.1:p.Lys468Argfs	NC_000017.10:g.41246145delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1399A>T (p.Lys467Ter)	672	BRCA1	Pathogenic	80357279	RCV000047463; RCV000111608;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246149	41246149	NM_007294.3:c.1399A>T	NP_009225.1:p.Lys467Ter	NC_000017.10:g.41246149T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1396C>T (p.Arg466Trp)	672	BRCA1	Benign;Likely benign;Uncertain significance	80356964	RCV000047462; RCV000030991; RCV000132353;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246152	41246152	NM_007294.3:c.1396C>T	NP_009225.1:p.Arg466Trp	NC_000017.10:g.41246152G>A,NC_000017.10:g.41246152G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1396C>G (p.Arg466Gly)	672	BRCA1	Uncertain significance	80356964	RCV000047461; RCV000111607;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246152	41246152	NM_007294.3:c.1396C>G	NP_009225.1:p.Arg466Gly	NC_000017.10:g.41246152G>A,NC_000017.10:g.41246152G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1384_1393dupGGGAAAACCT (p.Tyr465Trpfs)	672	BRCA1	not provided	397508864	RCV000047452;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246155	41246164	NM_007294.3:c.1384_1393dupGGGAAAACCT	NP_009225.1:p.Tyr465Trpfs	NC_000017.10:g.41246155_41246164dupAGGTTTTCCC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1393T>G (p.Tyr465Asp)	672	BRCA1	not provided	397508869	RCV000047460;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246155	41246155	NM_007294.3:c.1393T>G	NP_009225.1:p.Tyr465Asp	NC_000017.10:g.41246155A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1392delC (p.Tyr465Ilefs)	672	BRCA1	not provided	397508868	RCV000047459;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246156	41246156	NM_007294.3:c.1392delC	NP_009225.1:p.Tyr465Ilefs	NC_000017.10:g.41246156delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1390_1391insG (p.Thr464Serfs)	672	BRCA1	not provided	397508867	RCV000047456;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246157	41246158	NM_007294.3:c.1390_1391insG	NP_009225.1:p.Thr464Serfs	NC_000017.10:g.41246157_41246158insC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1391C>T (p.Thr464Ile)	672	BRCA1	Uncertain significance	62625301	RCV000047458; RCV000111605; RCV000164838;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246157	41246157	NM_007294.3:c.1391C>T	NP_009225.1:p.Thr464Ile	NC_000017.10:g.41246157G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1387_1390delAAAAinsGAAAG (p.Lys463Glufs)	672	BRCA1	not provided	397508866	RCV000047455;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246158	41246161	NM_007294.3:c.1387_1390delAAAAinsGAAAG	NP_009225.1:p.Lys463Glufs		-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1390delA (p.Thr464Profs)	672	BRCA1	Pathogenic	80357770	RCV000047457; RCV000111604;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246158	41246158	NM_007294.3:c.1390delA	NP_009225.1:p.Thr464Profs	NC_000017.10:g.41246158delT	Breast Cancer Information Core (BRCA1):1506&base_change=del A,Breast Cancer Information Core (BRCA1):1509&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1386delG (p.Thr464Profs)	672	BRCA1	Pathogenic	80357722	RCV000047453; RCV000077489; RCV000165641;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246162	41246162	NM_007294.3:c.1386delG	NP_009225.1:p.Thr464Profs	NC_000017.10:g.41246162delC	Breast Cancer Information Core (BRCA1):1505&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1386dupG (p.Lys463Glufs)	672	BRCA1	Pathogenic	397508865	RCV000047454; RCV000211048;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246162	41246162	NM_007294.3:c.1386dupG	NP_009225.1:p.Lys463Glufs	NC_000017.10:g.41246162dupC	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1384G>A (p.Gly462Arg)	672	BRCA1	Uncertain significance	80357221	RCV000047451; RCV000077488; RCV000129965; RCV000148410;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221562	17	41246164	41246164	NM_007294.3:c.1384G>A	NP_009225.1:p.Gly462Arg	NC_000017.10:g.41246164C>T	-	CN221562 Breast and/or ovarian cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1383T>A (p.Phe461Leu)	672	BRCA1	Uncertain significance	56046357	RCV000047449; RCV000111600; RCV000166450;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246165	41246165	NM_007294.3:c.1383T>A	NP_009225.1:p.Phe461Leu	NC_000017.10:g.41246165A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1383delT (p.Phe461Leufs)	672	BRCA1	Pathogenic	80357879	RCV000047450; RCV000111601;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246165	41246165	NM_007294.3:c.1383delT	NP_009225.1:p.Phe461Leufs	NC_000017.10:g.41246165delA	Breast Cancer Information Core (BRCA1):1502&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1380delA (p.Phe461Leufs)	672	BRCA1	not provided	397508863	RCV000047446;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246168	41246168	NM_007294.3:c.1380delA	NP_009225.1:p.Phe461Leufs	NC_000017.10:g.41246168delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1380dupA (p.Phe461Ilefs)	672	BRCA1	Pathogenic	80357714	RCV000047447; RCV000030988; RCV000214909;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246168	41246168	NM_007294.3:c.1380dupA	NP_009225.1:p.Phe461Ilefs	NC_000017.10:g.41246168dupT	Breast Cancer Information Core (BRCA1):1499&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1374delC (p.Asp458Glufs)	672	BRCA1	not provided	397508862	RCV000047445;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246174	41246174	NM_007294.3:c.1374delC	NP_009225.1:p.Asp458Glufs	NC_000017.10:g.41246174delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1371delA (p.Asp458Thrfs)	672	BRCA1	not provided	397508861	RCV000047444;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246177	41246177	NM_007294.3:c.1371delA	NP_009225.1:p.Asp458Thrfs	NC_000017.10:g.41246177delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1367T>C (p.Ile456Thr)	672	BRCA1	Uncertain significance	80357360	RCV000047443; RCV000111597; RCV000130503;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246181	41246181	NM_007294.3:c.1367T>C	NP_009225.1:p.Ile456Thr	NC_000017.10:g.41246181A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1363_1364insGA (p.Asn455Argfs)	672	BRCA1	not provided	397508860	RCV000047442;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246184	41246185	NM_007294.3:c.1363_1364insGA	NP_009225.1:p.Asn455Argfs	NC_000017.10:g.41246184_41246185insTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1360_1361delAG (p.Ser454Terfs)	672	BRCA1	Pathogenic	80357969	RCV000047440; RCV000030987; RCV000131838;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246187	41246188	NM_007294.3:c.1360_1361delAG	NP_009225.1:p.Ser454Terfs	NC_000017.10:g.41246187_41246188delCT	Breast Cancer Information Core (BRCA1):1479&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1361G>A (p.Ser454Asn)	672	BRCA1	Uncertain significance	80357181	RCV000047441; RCV000111596;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246187	41246187	NM_007294.3:c.1361G>A	NP_009225.1:p.Ser454Asn	NC_000017.10:g.41246187C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1352C>A (p.Ser451Ter)	672	BRCA1	Pathogenic	80356891	RCV000047437; RCV000111593;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246196	41246196	NM_007294.3:c.1352C>A	NP_009225.1:p.Ser451Ter	NC_000017.10:g.41246196G>C,NC_000017.10:g.41246196G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1352C>G (p.Ser451Ter)	672	BRCA1	Pathogenic	80356891	RCV000047438; RCV000111594;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246196	41246196	NM_007294.3:c.1352C>G	NP_009225.1:p.Ser451Ter	NC_000017.10:g.41246196G>C,NC_000017.10:g.41246196G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1340_1341delTT (p.Val447Alafs)	672	BRCA1	Pathogenic	730881458	RCV000159900;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246207	41246208	NM_007294.3:c.1340_1341delTT	NP_009225.1:p.Val447Alafs	NC_000017.10:g.41246207_41246208delAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1339dupG (p.Val447Glyfs)	672	BRCA1	not provided	397508855	RCV000047424;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246209	41246209	NM_007294.3:c.1339dupG	NP_009225.1:p.Val447Glyfs	NC_000017.10:g.41246209dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1335_1336delAA (p.Arg446Serfs)	672	BRCA1	Pathogenic	80357978	RCV000047423; RCV000111591;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246212	41246213	NM_007294.3:c.1335_1336delAA	NP_009225.1:p.Arg446Serfs	NC_000017.10:g.41246212_41246213delTT	Breast Cancer Information Core (BRCA1):1454&base_change=del AA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1333G>C (p.Glu445Gln)	672	BRCA1	Uncertain significance	80356915	RCV000047421; RCV000111589; RCV000129529;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246215	41246215	NM_007294.3:c.1333G>C	NP_009225.1:p.Glu445Gln	NC_000017.10:g.41246215C>A,NC_000017.10:g.41246215C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1333G>T (p.Glu445Ter)	672	BRCA1	Pathogenic	80356915	RCV000047422; RCV000111590;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246215	41246215	NM_007294.3:c.1333G>T	NP_009225.1:p.Glu445Ter	NC_000017.10:g.41246215C>A,NC_000017.10:g.41246215C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1326T>A (p.Cys442Ter)	672	BRCA1	not provided	397508854	RCV000047420;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246222	41246222	NM_007294.3:c.1326T>A	NP_009225.1:p.Cys442Ter	NC_000017.10:g.41246222A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1323_1324delAT (p.Ile441Metfs)	672	BRCA1	Pathogenic	80357570	RCV000047419; RCV000083169;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246224	41246225	NM_007294.3:c.1323_1324delAT	NP_009225.1:p.Ile441Metfs	NC_000017.10:g.41246224_41246225delAT	Breast Cancer Information Core (BRCA1):1442&base_change=del AT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1319T>C (p.Leu440Ser)	672	BRCA1	Uncertain significance	273897656	RCV000047414; RCV000111587;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246229	41246229	NM_007294.3:c.1319T>C	NP_009225.1:p.Leu440Ser	NC_000017.10:g.41246229A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1319delT (p.Leu440Terfs)	672	BRCA1	Pathogenic	80357683	RCV000047415; RCV000111588;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246229	41246229	NM_007294.3:c.1319delT	NP_009225.1:p.Leu440Terfs	NC_000017.10:g.41246229delA	Breast Cancer Information Core (BRCA1):1438&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1319dupT (p.Leu440Phefs)	672	BRCA1	not provided	397508853	RCV000047416;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246229	41246229	NM_007294.3:c.1319dupT	NP_009225.1:p.Leu440Phefs	NC_000017.10:g.41246229dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1310A>C (p.His437Pro)	672	BRCA1	Uncertain significance	80357255	RCV000047413; RCV000111586;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246238	41246238	NM_007294.3:c.1310A>C	NP_009225.1:p.His437Pro	NC_000017.10:g.41246238T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1297delG (p.Ala433Profs)	672	BRCA1	Pathogenic	80357794	RCV000047408; RCV000111585;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246251	41246251	NM_007294.3:c.1297delG	NP_009225.1:p.Ala433Profs	NC_000017.10:g.41246251delC	Breast Cancer Information Core (BRCA1):1416&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1293_1295delACTinsGA (p.Leu432Argfs)	672	BRCA1	not provided	397508852	RCV000047407;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246253	41246255	NM_007294.3:c.1293_1295delACTinsGA	NP_009225.1:p.Leu432Argfs	NC_000017.10:g.41246253_41246255delAGTinsTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1292T>G (p.Leu431Ter)	672	BRCA1	Pathogenic	80357346	RCV000047405; RCV000111583;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246256	41246256	NM_007294.3:c.1292T>G	NP_009225.1:p.Leu431Ter	NC_000017.10:g.41246256A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1292dupT (p.Leu431Phefs)	672	BRCA1	Pathogenic	80357528	RCV000047406; RCV000111584;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246256	41246256	NM_007294.3:c.1292dupT	NP_009225.1:p.Leu431Phefs	NC_000017.10:g.41246256dupA	Breast Cancer Information Core (BRCA1):1411&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1287dupA (p.Asp430Argfs)	672	BRCA1	Pathogenic	80357576	RCV000047404; RCV000111582;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246261	41246261	NM_007294.3:c.1287dupA	NP_009225.1:p.Asp430Argfs	NC_000017.10:g.41246261dupT	Breast Cancer Information Core (BRCA1):1406&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1279G>T (p.Glu427Ter)	672	BRCA1	not provided	397508851	RCV000047403;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246269	41246269	NM_007294.3:c.1279G>T	NP_009225.1:p.Glu427Ter	NC_000017.10:g.41246269C>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1276delT (p.Ser426Glnfs)	672	BRCA1	Pathogenic	80357766	RCV000047402; RCV000111580;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246272	41246272	NM_007294.3:c.1276delT	NP_009225.1:p.Ser426Glnfs	NC_000017.10:g.41246272delA	Breast Cancer Information Core (BRCA1):1395&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1265_1266dupAT (p.Ser423Ilefs)	672	BRCA1	not provided	397508850	RCV000047399;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246282	41246283	NM_007294.3:c.1265_1266dupAT	NP_009225.1:p.Ser423Ilefs	NC_000017.10:g.41246282_41246283dupAT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1266T>G (p.Tyr422Ter)	672	BRCA1	Pathogenic	80357417	RCV000047401; RCV000111578;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246282	41246282	NM_007294.3:c.1266T>G	NP_009225.1:p.Tyr422Ter	NC_000017.10:g.41246282A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1265dupA (p.Tyr422Terfs)	672	BRCA1	Pathogenic	80357809	RCV000047400; RCV000111577;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246283	41246283	NM_007294.3:c.1265dupA	NP_009225.1:p.Tyr422Terfs	NC_000017.10:g.41246283dupT	Breast Cancer Information Core (BRCA1):1384&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1262A>G (p.Glu421Gly)	672	BRCA1	not provided	397508849	RCV000047398;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246286	41246286	NM_007294.3:c.1262A>G	NP_009225.1:p.Glu421Gly	NC_000017.10:g.41246286T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1261G>A (p.Glu421Lys)	672	BRCA1	Uncertain significance	80357046	RCV000047397; RCV000111576;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246287	41246287	NM_007294.3:c.1261G>A	NP_009225.1:p.Glu421Lys	NC_000017.10:g.41246287C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1258G>T (p.Asp420Tyr)	672	BRCA1	Likely benign;Uncertain significance	80357488	RCV000047396; RCV000111575; RCV000222994; RCV000212163;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	41246290	41246290	NM_007294.3:c.1258G>T	NP_009225.1:p.Asp420Tyr	NC_000017.10:g.41246290C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1255delG (p.Val419Terfs)	672	BRCA1	Pathogenic	80357535	RCV000047395; RCV000111574;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246293	41246293	NM_007294.3:c.1255delG	NP_009225.1:p.Val419Terfs	NC_000017.10:g.41246293delC	Breast Cancer Information Core (BRCA1):1374&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1252G>T (p.Glu418Ter)	672	BRCA1	Pathogenic	80357083	RCV000047394; RCV000111573;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246296	41246296	NM_007294.3:c.1252G>T	NP_009225.1:p.Glu418Ter	NC_000017.10:g.41246296C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1251T>G (p.Asn417Lys)	672	BRCA1	Uncertain significance	80357197	RCV000047393; RCV000111572;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246297	41246297	NM_007294.3:c.1251T>G	NP_009225.1:p.Asn417Lys	NC_000017.10:g.41246297A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1250A>G (p.Asn417Ser)	672	BRCA1	Benign;Uncertain significance	80357113	RCV000047392; RCV000083168; RCV000166228;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246298	41246298	NM_007294.3:c.1250A>G	NP_009225.1:p.Asn417Ser	NC_000017.10:g.41246298T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1240_1246delGACGTTC (p.Asp414Terfs)	672	BRCA1	Pathogenic	80357964	RCV000047388; RCV000111570;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246302	41246308	NM_007294.3:c.1240_1246delGACGTTC	NP_009225.1:p.Asp414Terfs	NC_000017.10:g.41246302_41246308delGAACGTC	Breast Cancer Information Core (BRCA1):1359&base_change=del GACGTTC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1241dupA (p.Asp414Glufs)	672	BRCA1	Pathogenic	80357514	RCV000047389; RCV000111571;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246307	41246307	NM_007294.3:c.1241dupA	NP_009225.1:p.Asp414Glufs	NC_000017.10:g.41246307dupT	Breast Cancer Information Core (BRCA1):1360&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357024	RCV000047387; RCV000083166; RCV000034726; RCV000130781;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41246315	41246315	NM_007294.3:c.1233T>G	NP_009225.1:p.Asp411Glu	NC_000017.10:g.41246315A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.1232_1233delAT (p.Asp411Glyfs)	672	BRCA1	not provided	397508848	RCV000047386;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246315	41246316	NM_007294.3:c.1232_1233delAT	NP_009225.1:p.Asp411Glyfs	NC_000017.10:g.41246315_41246316delAT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1232A>T (p.Asp411Val)	672	BRCA1	Uncertain significance	730881469	RCV000159950;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246316	41246316	NM_007294.3:c.1232A>T	NP_009225.1:p.Asp411Val	NC_000017.10:g.41246316T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1231G>A (p.Asp411Asn)	672	BRCA1	Uncertain significance	80357301	RCV000047385; RCV000111569; RCV000223347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246317	41246317	NM_007294.3:c.1231G>A	NP_009225.1:p.Asp411Asn	NC_000017.10:g.41246317C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1222A>G (p.Lys408Glu)	672	BRCA1	Benign;Likely benign;Uncertain significance	80357253	RCV000047382; RCV000030980; RCV000130521;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246326	41246326	NM_007294.3:c.1222A>G	NP_009225.1:p.Lys408Glu	NC_000017.10:g.41246326T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1217delA (p.Asn406Metfs)	672	BRCA1	not provided	397508846	RCV000047381;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246331	41246331	NM_007294.3:c.1217delA	NP_009225.1:p.Asn406Metfs	NC_000017.10:g.41246331delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1175_1214del40 (p.Leu392Glnfs)	672	BRCA1	Likely pathogenic;Pathogenic	80359874	RCV000159899; RCV000019234; RCV000047372; RCV000131965;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246334	41246373	NM_007294.3:c.1175_1214del40	NP_009225.1:p.Leu392Glnfs	NC_000017.10:g.41246334_41246373del40	Breast Cancer Information Core (BRCA1):1294&base_change=del 40,OMIM Allelic Variant:113705.0006	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1214C>A (p.Ser405Ter)	672	BRCA1	Pathogenic	80357481	RCV000047380; RCV000111568;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246334	41246334	NM_007294.3:c.1214C>A	NP_009225.1:p.Ser405Ter	NC_000017.10:g.41246334G>C,NC_000017.10:g.41246334G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1208C>T (p.Ser403Phe)	672	BRCA1	Uncertain significance	80356934	RCV000047379; RCV000111567;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246340	41246340	NM_007294.3:c.1208C>T	NP_009225.1:p.Ser403Phe	NC_000017.10:g.41246340G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1204G>T (p.Glu402Ter)	672	BRCA1	not provided	273897655	RCV000047377; RCV000111565;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246344	41246344	NM_007294.3:c.1204G>T	NP_009225.1:p.Glu402Ter	NC_000017.10:g.41246344C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1193C>A (p.Ser398Ter)	672	BRCA1	not provided	80357068	RCV000047375;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246355	41246355	NM_007294.3:c.1193C>A	NP_009225.1:p.Ser398Ter	NC_000017.10:g.41246355G>C,NC_000017.10:g.41246355G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1193C>G (p.Ser398Ter)	672	BRCA1	Pathogenic	80357068	RCV000047376; RCV000111564;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246355	41246355	NM_007294.3:c.1193C>G	NP_009225.1:p.Ser398Ter	NC_000017.10:g.41246355G>C,NC_000017.10:g.41246355G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1188delT (p.Asp396Glufs)	672	BRCA1	Pathogenic	397508845	RCV000047374;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246360	41246360	NM_007294.3:c.1188delT	NP_009225.1:p.Asp396Glufs	NC_000017.10:g.41246360delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1175_1178delTGTT (p.Leu392Glnfs)	672	BRCA1	not provided	397508844	RCV000047371;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246370	41246373	NM_007294.3:c.1175_1178delTGTT	NP_009225.1:p.Leu392Glnfs	NC_000017.10:g.41246370_41246373delAACA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1166delG (p.Ser389Metfs)	672	BRCA1	Pathogenic	273897653	RCV000047369; RCV000111563;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246382	41246382	NM_007294.3:c.1166delG	NP_009225.1:p.Ser389Metfs	NC_000017.10:g.41246382delC	Breast Cancer Information Core (BRCA1):1285&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1165delA (p.Ser389Valfs)	672	BRCA1	Pathogenic	80357985	RCV000047368; RCV000111562;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246383	41246383	NM_007294.3:c.1165delA	NP_009225.1:p.Ser389Valfs	NC_000017.10:g.41246383delT	Breast Cancer Information Core (BRCA1):1284&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1158_1159delTT (p.Ser387Glnfs)	672	BRCA1	not provided	397508842	RCV000047363;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246389	41246390	NM_007294.3:c.1158_1159delTT	NP_009225.1:p.Ser387Glnfs	NC_000017.10:g.41246389_41246390delAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1159dupT (p.Ser387Phefs)	672	BRCA1	not provided	397508843	RCV000047364;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246389	41246389	NM_007294.3:c.1159dupT	NP_009225.1:p.Ser387Phefs	NC_000017.10:g.41246389dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1152dupG (p.Trp385Valfs)	672	BRCA1	not provided	397508841	RCV000047362;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246396	41246396	NM_007294.3:c.1152dupG	NP_009225.1:p.Trp385Valfs	NC_000017.10:g.41246396dupC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1141A>T (p.Lys381Ter)	672	BRCA1	Pathogenic	80357385	RCV000047359; RCV000111561;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246407	41246407	NM_007294.3:c.1141A>T	NP_009225.1:p.Lys381Ter	NC_000017.10:g.41246407T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1138C>T (p.Gln380Ter)	672	BRCA1	not provided	397508840	RCV000047358;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246410	41246410	NM_007294.3:c.1138C>T	NP_009225.1:p.Gln380Ter	NC_000017.10:g.41246410G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1130G>A (p.Ser377Asn)	672	BRCA1	Uncertain significance	80357398	RCV000047356; RCV000111559;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246418	41246418	NM_007294.3:c.1130G>A	NP_009225.1:p.Ser377Asn	NC_000017.10:g.41246418C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1127A>G (p.Asn376Ser)	672	BRCA1	Uncertain significance	80356976	RCV000047353; RCV000111556;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246421	41246421	NM_007294.3:c.1127A>G	NP_009225.1:p.Asn376Ser	NC_000017.10:g.41246421T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1127delA (p.Asn376Ilefs)	672	BRCA1	Pathogenic	80357821	RCV000047354; RCV000111557; RCV000129494;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246421	41246421	NM_007294.3:c.1127delA	NP_009225.1:p.Asn376Ilefs	NC_000017.10:g.41246421delT	Breast Cancer Information Core (BRCA1):1246&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1121_1123delCACinsT (p.Thr374Ilefs)	672	BRCA1	Pathogenic	273897652	RCV000047350; RCV000111555;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246425	41246427	NM_007294.3:c.1121_1123delCACinsT	NP_009225.1:p.Thr374Ilefs	NC_000017.10:g.41246425_41246427delGTGinsA	Breast Cancer Information Core (BRCA1):1240&base_change=del CAC ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1122_1123delAC (p.Leu375Lysfs)	672	BRCA1	not provided	397508839	RCV000047352;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246425	41246426	NM_007294.3:c.1122_1123delAC	NP_009225.1:p.Leu375Lysfs	NC_000017.10:g.41246425_41246426delGT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1121delC (p.Thr374Asnfs)	672	BRCA1	Pathogenic	80357612	RCV000047351; RCV000030972;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246427	41246427	NM_007294.3:c.1121delC	NP_009225.1:p.Thr374Asnfs	NC_000017.10:g.41246427delG	Breast Cancer Information Core (BRCA1):1240&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1121C>T (p.Thr374Ile)	672	BRCA1	Uncertain significance	80357235	RCV000047349; RCV000111554;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246427	41246427	NM_007294.3:c.1121C>T	NP_009225.1:p.Thr374Ile	NC_000017.10:g.41246427G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1116G>A (p.Trp372Ter)	672	BRCA1	Pathogenic	80357468	RCV000047348; RCV000111553; RCV000131844;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246432	41246432	NM_007294.3:c.1116G>A	NP_009225.1:p.Trp372Ter	NC_000017.10:g.41246432C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1115G>A (p.Trp372Ter)	672	BRCA1	not provided	397508838	RCV000047347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246433	41246433	NM_007294.3:c.1115G>A	NP_009225.1:p.Trp372Ter	NC_000017.10:g.41246433C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1112delC (p.Pro371Leufs)	672	BRCA1	not provided	397508837	RCV000047346;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246436	41246436	NM_007294.3:c.1112delC	NP_009225.1:p.Pro371Leufs	NC_000017.10:g.41246436delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1106_1108delATG (p.Asp369del)	672	BRCA1	Benign;Likely benign;Uncertain significance	80358325	RCV000047343; RCV000111551; RCV000195341; RCV000130879;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246440	41246442	NM_007294.3:c.1106_1108delATG	NP_009225.1:p.Asp369del	NC_000017.10:g.41246440_41246442delCAT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1106A>G (p.Asp369Gly)	672	BRCA1	Uncertain significance	80357416	RCV000047342; RCV000111550;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246442	41246442	NM_007294.3:c.1106A>G	NP_009225.1:p.Asp369Gly	NC_000017.10:g.41246442T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1102G>T (p.Glu368Ter)	672	BRCA1	Pathogenic	80357139	RCV000047340; RCV000111548;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246446	41246446	NM_007294.3:c.1102G>T	NP_009225.1:p.Glu368Ter	NC_000017.10:g.41246446C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1100dupC (p.Glu368Terfs)	672	BRCA1	not provided	397508836	RCV000047339;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246448	41246448	NM_007294.3:c.1100dupC	NP_009225.1:p.Glu368Terfs	NC_000017.10:g.41246448dupG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1099dupA (p.Thr367Asnfs)	672	BRCA1	not provided	397508835	RCV000047338;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246449	41246449	NM_007294.3:c.1099dupA	NP_009225.1:p.Thr367Asnfs	NC_000017.10:g.41246449dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1082_1092delCAGAGAATCCT (p.Ser361Terfs)	672	BRCA1	Pathogenic	80359880	RCV000047334; RCV000077481; RCV000165309;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246456	41246466	NM_007294.3:c.1082_1092delCAGAGAATCCT	NP_009225.1:p.Ser361Terfs	NC_000017.10:g.41246456_41246466delAGGATTCTCTG	Breast Cancer Information Core (BRCA1):1201&base_change=del 11	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1091delC (p.Pro364Leufs)	672	BRCA1	not provided	397508834	RCV000047337;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246457	41246457	NM_007294.3:c.1091delC	NP_009225.1:p.Pro364Leufs	NC_000017.10:g.41246457delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1088delA (p.Asn363Ilefs)	672	BRCA1	Pathogenic	80357954	RCV000047336; RCV000111544;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246460	41246460	NM_007294.3:c.1088delA	NP_009225.1:p.Asn363Ilefs	NC_000017.10:g.41246460delT	Breast Cancer Information Core (BRCA1):1207&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1086_1087delGA (p.Asn363Serfs)	672	BRCA1	Pathogenic	80357897	RCV000047335; RCV000111543;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246461	41246462	NM_007294.3:c.1086_1087delGA	NP_009225.1:p.Asn363Serfs	NC_000017.10:g.41246461_41246462delTC	Breast Cancer Information Core (BRCA1):1205&base_change=del GA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1082C>G (p.Ser361Ter)	672	BRCA1	not provided	397508833	RCV000047333;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246466	41246466	NM_007294.3:c.1082C>G	NP_009225.1:p.Ser361Ter	NC_000017.10:g.41246466G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1080_1081insA (p.Ser361Ilefs)	672	BRCA1	not provided	397508832	RCV000047331;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246467	41246468	NM_007294.3:c.1080_1081insA	NP_009225.1:p.Ser361Ilefs	NC_000017.10:g.41246467_41246468insT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1081T>C (p.Ser361Pro)	672	BRCA1	Uncertain significance	80356946	RCV000047332; RCV000111542; RCV000216374;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246467	41246467	NM_007294.3:c.1081T>C	NP_009225.1:p.Ser361Pro	NC_000017.10:g.41246467A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1068_1077delGAAACTGCCA (p.Gln356Hisfs)	672	BRCA1	not provided	397508830	RCV000047328;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246471	41246480	NM_007294.3:c.1068_1077delGAAACTGCCA	NP_009225.1:p.Gln356Hisfs	NC_000017.10:g.41246471_41246480delTGGCAGTTTC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1076C>T (p.Pro359Leu)	672	BRCA1	not provided	397508831	RCV000047330;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246472	41246472	NM_007294.3:c.1076C>T	NP_009225.1:p.Pro359Leu	NC_000017.10:g.41246472G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1072delC (p.Leu358Cysfs)	672	BRCA1	Pathogenic	80357836	RCV000047329; RCV000111541;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246476	41246476	NM_007294.3:c.1072delC	NP_009225.1:p.Leu358Cysfs	NC_000017.10:g.41246476delG	Breast Cancer Information Core (BRCA1):1191&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1067delA (p.Gln356Argfs)	672	BRCA1	Pathogenic	80357796	RCV000047327; RCV000077480;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246481	41246481	NM_007294.3:c.1067delA	NP_009225.1:p.Gln356Argfs	NC_000017.10:g.41246481delT	Breast Cancer Information Core (BRCA1):1186&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1066C>T (p.Gln356Ter)	672	BRCA1	Pathogenic	80357215	RCV000047325; RCV000111538; RCV000162844;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246482	41246482	NM_007294.3:c.1066C>T	NP_009225.1:p.Gln356Ter	NC_000017.10:g.41246482G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1064A>G (p.Lys355Arg)	672	BRCA1	Uncertain significance	80357246	RCV000047323; RCV000111536;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246484	41246484	NM_007294.3:c.1064A>G	NP_009225.1:p.Lys355Arg	NC_000017.10:g.41246484T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1063A>T (p.Lys355Ter)	672	BRCA1	not provided	397508829	RCV000047322;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246485	41246485	NM_007294.3:c.1063A>T	NP_009225.1:p.Lys355Ter	NC_000017.10:g.41246485T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1059G>A (p.Trp353Ter)	672	BRCA1	Pathogenic	80356935	RCV000047321; RCV000111534;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246489	41246489	NM_007294.3:c.1059G>A	NP_009225.1:p.Trp353Ter	NC_000017.10:g.41246489C>G,NC_000017.10:g.41246489C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1058G>A (p.Trp353Ter)	672	BRCA1	Pathogenic	80356908	RCV000047320; RCV000111533;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246490	41246490	NM_007294.3:c.1058G>A	NP_009225.1:p.Trp353Ter	NC_000017.10:g.41246490C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1054G>T (p.Glu352Ter)	672	BRCA1	Pathogenic	80357472	RCV000047319; RCV000111532; RCV000162843;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246494	41246494	NM_007294.3:c.1054G>T	NP_009225.1:p.Glu352Ter	NC_000017.10:g.41246494C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1045G>T (p.Glu349Ter)	672	BRCA1	Pathogenic	80357338	RCV000047318; RCV000111531;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246503	41246503	NM_007294.3:c.1045G>T	NP_009225.1:p.Glu349Ter	NC_000017.10:g.41246503C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1039_1040delCT (p.Leu347Valfs)	672	BRCA1	not provided	397508827	RCV000047316;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246508	41246509	NM_007294.3:c.1039_1040delCT	NP_009225.1:p.Leu347Valfs	NC_000017.10:g.41246508_41246509delAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1040delT (p.Leu347Argfs)	672	BRCA1	not provided	397508828	RCV000047317;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246508	41246508	NM_007294.3:c.1040delT	NP_009225.1:p.Leu347Argfs	NC_000017.10:g.41246508delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1030G>A (p.Ala344Thr)	672	BRCA1	Uncertain significance	79727659	RCV000047313; RCV000111530;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246518	41246518	NM_007294.3:c.1030G>A	NP_009225.1:p.Ala344Thr	NC_000017.10:g.41246518C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1018delG (p.Val340Terfs)	672	BRCA1	Pathogenic	80357774	RCV000047311; RCV000030968;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246530	41246530	NM_007294.3:c.1018delG	NP_009225.1:p.Val340Terfs	NC_000017.10:g.41246530delC	Breast Cancer Information Core (BRCA1):1137&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1016delA (p.Lys339Argfs)	672	BRCA1	Pathogenic	80357618	RCV000047309; RCV000030967; RCV000222143;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246532	41246532	NM_007294.3:c.1016delA	NP_009225.1:p.Lys339Argfs	NC_000017.10:g.41246532delT	Breast Cancer Information Core (BRCA1):1129&base_change=del A,Breast Cancer Information Core (BRCA1):1135&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.1011dupA (p.Val340Glyfs)	672	BRCA1	Pathogenic	80357569	RCV000047310; RCV000074359; RCV000190459; RCV000129421;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246532	41246532	NM_007294.3:c.1011dupA	NP_009225.1:p.Val340Glyfs	NC_000017.10:g.41246532dupT	Breast Cancer Information Core (BRCA1):1129&base_change=ins A,Breast Cancer Information Core (BRCA1):1135&base_change=ins A,OMIM Allelic Variant:113705	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.952_1015del64 (p.His318Argfs)	672	BRCA1	Pathogenic	80359872	RCV000049201; RCV000031291;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246533	41246596	NM_007294.3:c.952_1015del64	NP_009225.1:p.His318Argfs	NC_000017.10:g.41246533_41246596del64	Breast Cancer Information Core (BRCA1):1071&base_change=del 64	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1012A>T (p.Lys338Ter)	672	BRCA1	Pathogenic	397508826	RCV000047308; RCV000165859;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246536	41246536	NM_007294.3:c.1012A>T	NP_009225.1:p.Lys338Ter	NC_000017.10:g.41246536T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.1008dupA (p.Glu337Argfs)	672	BRCA1	Pathogenic	67284603	RCV000047307; RCV000111528;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246540	41246540	NM_007294.3:c.1008dupA	NP_009225.1:p.Glu337Argfs	NC_000017.10:g.41246540dupT	Breast Cancer Information Core (BRCA1):1127&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1001C>T (p.Pro334Leu)	672	BRCA1	Benign	41286290	RCV000047306; RCV000111527; RCV000162971;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246547	41246547	NM_007294.3:c.1001C>T	NP_009225.1:p.Pro334Leu	NC_000017.10:g.41246547G>A,NC_000017.10:g.41246547G>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00060	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.996G>T (p.Arg332=)	672	BRCA1	Uncertain significance	80356836	RCV000049217; RCV000111526;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246552	41246552	NM_007294.3:c.996G>T	NP_009225.1:p.Arg332=	NC_000017.10:g.41246552C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.993G>C (p.Arg331Ser)	672	BRCA1	Uncertain significance	80357140	RCV000049214; RCV000111523;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246555	41246555	NM_007294.3:c.993G>C	NP_009225.1:p.Arg331Ser	NC_000017.10:g.41246555C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.988G>A (p.Asp330Asn)	672	BRCA1	Uncertain significance	397507259	RCV000049213; RCV000031294; RCV000165321;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246560	41246560	NM_007294.3:c.988G>A	NP_009225.1:p.Asp330Asn	NC_000017.10:g.41246560C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.985_986delAA (p.Asn329Terfs)	672	BRCA1	not provided	397509341	RCV000049212;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246562	41246563	NM_007294.3:c.985_986delAA	NP_009225.1:p.Asn329Terfs	NC_000017.10:g.41246562_41246563delTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.981_982delAT (p.Cys328Terfs)	672	BRCA1	Pathogenic	80357772	RCV000049211; RCV000077636; RCV000162892;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246566	41246567	NM_007294.3:c.981_982delAT	NP_009225.1:p.Cys328Terfs	NC_000017.10:g.41246566_41246567delAT	Breast Cancer Information Core (BRCA1):1100&base_change=del AT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.980_981delCA (p.Thr327Metfs)	672	BRCA1	Pathogenic	80357610	RCV000049209; RCV000111519;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246567	41246568	NM_007294.3:c.980_981delCA	NP_009225.1:p.Thr327Metfs	NC_000017.10:g.41246567_41246568delTG	Breast Cancer Information Core (BRCA1):1099&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.981A>G (p.Thr327=)	672	BRCA1	Benign;Likely benign;Uncertain significance	1800063	RCV000123891; RCV000111521; RCV000049210; RCV000168489; RCV000162537;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41246567	41246567	NM_007294.3:c.981A>G	NP_009225.1:p.Thr327=	NC_000017.10:g.41246567T>C	Breast Cancer Information Core (BRCA1):1100&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.964G>C (p.Ala322Pro)	672	BRCA1	Benign;Uncertain significance	80357252	RCV000049206; RCV000083228; RCV000218097;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246584	41246584	NM_007294.3:c.964G>C	NP_009225.1:p.Ala322Pro	NC_000017.10:g.41246584C>G,NC_000017.10:g.41246584C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.964delG (p.Ala322Leufs)	672	BRCA1	Pathogenic	273903794	RCV000049207; RCV000077635;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246584	41246584	NM_007294.3:c.964delG	NP_009225.1:p.Ala322Leufs	NC_000017.10:g.41246584delC	Breast Cancer Information Core (BRCA1):1083&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.962G>A (p.Trp321Ter)	672	BRCA1	Pathogenic	80357292	RCV000159948; RCV000031293; RCV000049204; RCV000162891;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246586	41246586	NM_007294.3:c.962G>A	NP_009225.1:p.Trp321Ter	NC_000017.10:g.41246586C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.961delT (p.Trp321Glyfs)	672	BRCA1	not provided	397509340	RCV000049203;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246587	41246587	NM_007294.3:c.961delT	NP_009225.1:p.Trp321Glyfs	NC_000017.10:g.41246587delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.959_960delGA (p.Arg320Metfs)	672	BRCA1	Pathogenic	397509339	RCV000049202; RCV000111518;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246588	41246589	NM_007294.3:c.959_960delGA	NP_009225.1:p.Arg320Metfs	NC_000017.10:g.41246588_41246589delTC	Breast Cancer Information Core (BRCA1):1078&base_change=del GA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.949_953delCAACA (p.Gln317Terfs)	672	BRCA1	Pathogenic	80357555	RCV000049200; RCV000111515;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246595	41246599	NM_007294.3:c.949_953delCAACA	NP_009225.1:p.Gln317Terfs	NC_000017.10:g.41246595_41246599delTGTTG	Breast Cancer Information Core (BRCA1):1068&base_change=del CAACA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.949C>T (p.Gln317Ter)	672	BRCA1	Pathogenic	80357211	RCV000049199; RCV000083227;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246599	41246599	NM_007294.3:c.949C>T	NP_009225.1:p.Gln317Ter	NC_000017.10:g.41246599G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.943A>G (p.Arg315Gly)	672	BRCA1	Uncertain significance	80357050	RCV000049197; RCV000111514;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246605	41246605	NM_007294.3:c.943A>G	NP_009225.1:p.Arg315Gly	NC_000017.10:g.41246605T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.930delG (p.Gln310Hisfs)	672	BRCA1	Pathogenic	80357689	RCV000049195; RCV000111513;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246618	41246618	NM_007294.3:c.930delG	NP_009225.1:p.Gln310Hisfs	NC_000017.10:g.41246618delC	Breast Cancer Information Core (BRCA1):1049&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.929delA (p.Gln310Argfs)	672	BRCA1	Pathogenic	80357844	RCV000049194; RCV000031289; RCV000131986;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246619	41246619	NM_007294.3:c.929delA	NP_009225.1:p.Gln310Argfs	NC_000017.10:g.41246619delT	Breast Cancer Information Core (BRCA1):1048&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.928C>T (p.Gln310Ter)	672	BRCA1	not provided	397509338	RCV000049193;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246620	41246620	NM_007294.3:c.928C>T	NP_009225.1:p.Gln310Ter	NC_000017.10:g.41246620G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.927delA (p.Lys309Asnfs)	672	BRCA1	not provided	397509337	RCV000049192;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246621	41246621	NM_007294.3:c.927delA	NP_009225.1:p.Lys309Asnfs	NC_000017.10:g.41246621delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.926A>C (p.Lys309Thr)	672	BRCA1	Uncertain significance	80356877	RCV000049191; RCV000111512;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246622	41246622	NM_007294.3:c.926A>C	NP_009225.1:p.Lys309Thr	NC_000017.10:g.41246622T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.922_924delAGCinsT (p.Ser308Terfs)	672	BRCA1	Pathogenic	397509335	RCV000049188; RCV000077633;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246624	41246626	NM_007294.3:c.922_924delAGCinsT	NP_009225.1:p.Ser308Terfs	NC_000017.10:g.41246624_41246626delGCTinsA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.924delC (p.Ser308Argfs)	672	BRCA1	not provided	397509336	RCV000049190;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246624	41246624	NM_007294.3:c.924delC	NP_009225.1:p.Ser308Argfs	NC_000017.10:g.41246624delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.922_923delAG (p.Ser308Glnfs)	672	BRCA1	Pathogenic	80357644	RCV000049187; RCV000111510;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246625	41246626	NM_007294.3:c.922_923delAG	NP_009225.1:p.Ser308Glnfs	NC_000017.10:g.41246625_41246626delCT	Breast Cancer Information Core (BRCA1):1041&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.923delG (p.Ser308Thrfs)	672	BRCA1	Pathogenic	80357953	RCV000049189; RCV000111511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246625	41246625	NM_007294.3:c.923delG	NP_009225.1:p.Ser308Thrfs	NC_000017.10:g.41246625delC	Breast Cancer Information Core (BRCA1):1042&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.923G>C (p.Ser308Thr)	672	BRCA1	Uncertain significance	561998108	RCV000159947; RCV000166933;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246625	41246625	NM_007294.3:c.923G>C	NP_009225.1:p.Ser308Thr	NC_000017.10:g.41246625C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.911delT (p.Phe304Serfs)	672	BRCA1	Pathogenic	80357622	RCV000049186; RCV000111509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246637	41246637	NM_007294.3:c.911delT	NP_009225.1:p.Phe304Serfs	NC_000017.10:g.41246637delA	Breast Cancer Information Core (BRCA1):1030&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.909delA (p.Glu303Aspfs)	672	BRCA1	not provided	397509334	RCV000049185;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246639	41246639	NM_007294.3:c.909delA	NP_009225.1:p.Glu303Aspfs	NC_000017.10:g.41246639delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.903_904insC (p.Ala302Argfs)	672	BRCA1	not provided	397509333	RCV000049183;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246644	41246645	NM_007294.3:c.903_904insC	NP_009225.1:p.Ala302Argfs	NC_000017.10:g.41246644_41246645insG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.904delG (p.Ala302Leufs)	672	BRCA1	Pathogenic	273903793	RCV000049184; RCV000111508;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246644	41246644	NM_007294.3:c.904delG	NP_009225.1:p.Ala302Leufs	NC_000017.10:g.41246644delC	Breast Cancer Information Core (BRCA1):1023&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.900A>C (p.Glu300Asp)	672	BRCA1	Uncertain significance	80356861	RCV000049182; RCV000111506;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246648	41246648	NM_007294.3:c.900A>C	NP_009225.1:p.Glu300Asp	NC_000017.10:g.41246648T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.895_896delGT (p.Val299Argfs)	672	BRCA1	Pathogenic	80357670	RCV000049179; RCV000111504;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246652	41246653	NM_007294.3:c.895_896delGT	NP_009225.1:p.Val299Argfs	NC_000017.10:g.41246652_41246653delAC	Breast Cancer Information Core (BRCA1):1013&base_change=del TG,Breast Cancer Information Core (BRCA1):1014&base_change=del GT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.891G>A (p.Met297Ile)	672	BRCA1	Benign	80357103	RCV000049178; RCV000111502; RCV000162970;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246657	41246657	NM_007294.3:c.891G>A	NP_009225.1:p.Met297Ile	NC_000017.10:g.41246657C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00118	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.890T>A (p.Met297Lys)	672	BRCA1	Uncertain significance	80356924	RCV000049177; RCV000111493;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246658	41246658	NM_007294.3:c.890T>A	NP_009225.1:p.Met297Lys	NC_000017.10:g.41246658A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.889A>C (p.Met297Leu)	672	BRCA1	Uncertain significance	80357196	RCV000049176; RCV000111492;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246659	41246659	NM_007294.3:c.889A>C	NP_009225.1:p.Met297Leu	NC_000017.10:g.41246659T>C,NC_000017.10:g.41246659T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.851_852delAG (p.Gln284Profs)	672	BRCA1	Pathogenic	80357719	RCV000049174; RCV000112805;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246696	41246697	NM_007294.3:c.851_852delAG	NP_009225.1:p.Gln284Profs	NC_000017.10:g.41246696_41246697delCT	Breast Cancer Information Core (BRCA1):970&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.851A>G (p.Gln284Arg)	672	BRCA1	Uncertain significance	80357039	RCV000049173; RCV000112804;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246697	41246697	NM_007294.3:c.851A>G	NP_009225.1:p.Gln284Arg	NC_000017.10:g.41246697T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.844_850dupTCATTAC (p.Gln284Leufs)	672	BRCA1	Pathogenic	80357989	RCV000049169; RCV000112803; RCV000165711;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246698	41246704	NM_007294.3:c.844_850dupTCATTAC	NP_009225.1:p.Gln284Leufs	NC_000017.10:g.41246698_41246704dupGTAATGA	Breast Cancer Information Core (BRCA1):969&base_change=ins TCATTAC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.850C>T (p.Gln284Ter)	672	BRCA1	Pathogenic	397509330	RCV000049172; RCV000217707;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246698	41246698	NM_007294.3:c.850C>T	NP_009225.1:p.Gln284Ter	NC_000017.10:g.41246698G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.848T>A (p.Leu283Ter)	672	BRCA1	Pathogenic	273902792	RCV000049170; RCV000112802;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246700	41246700	NM_007294.3:c.848T>A	NP_009225.1:p.Leu283Ter	NC_000017.10:g.41246700A>C,NC_000017.10:g.41246700A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.848T>G (p.Leu283Ter)	672	BRCA1	not provided	273902792	RCV000049171;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246700	41246700	NM_007294.3:c.848T>G	NP_009225.1:p.Leu283Ter	NC_000017.10:g.41246700A>C,NC_000017.10:g.41246700A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.843_846delCTCA (p.Ser282Tyrfs)	672	BRCA1	Pathogenic	80357919	RCV000049168; RCV000019253; RCV000131872;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246702	41246705	NM_007294.3:c.843_846delCTCA	NP_009225.1:p.Ser282Tyrfs	NC_000017.10:g.41246702_41246705delTGAG	Breast Cancer Information Core (BRCA1):962&base_change=del CTCA,OMIM Allelic Variant:113705.0024	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.839C>G (p.Ala280Gly)	672	BRCA1	Benign	80357199	RCV000049165; RCV000083226; RCV000162969;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246709	41246709	NM_007294.3:c.839C>G	NP_009225.1:p.Ala280Gly	NC_000017.10:g.41246709G>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00059	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.836A>G (p.His279Arg)	672	BRCA1	Uncertain significance	80357482	RCV000049164; RCV000112800;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246712	41246712	NM_007294.3:c.836A>G	NP_009225.1:p.His279Arg	NC_000017.10:g.41246712T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.835delC (p.His279Metfs)	672	BRCA1	Pathogenic	80357523	RCV000049163; RCV000112799;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246713	41246713	NM_007294.3:c.835delC	NP_009225.1:p.His279Metfs	NC_000017.10:g.41246713delG	Breast Cancer Information Core (BRCA1):954&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.827_828insT (p.Asn277Lysfs)	672	BRCA1	not provided	397509329	RCV000049162;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246720	41246721	NM_007294.3:c.827_828insT	NP_009225.1:p.Asn277Lysfs	NC_000017.10:g.41246720_41246721insA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.827C>G (p.Thr276Arg)	672	BRCA1	Uncertain significance	80357436	RCV000049161; RCV000031287; RCV000165030;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246721	41246721	NM_007294.3:c.827C>G	NP_009225.1:p.Thr276Arg	NC_000017.10:g.41246721G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.825C>T (p.Gly275=)	672	BRCA1	Likely benign;Uncertain significance	397509328	RCV000049160; RCV000195349; RCV000162781;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	17	41246723	41246723	NM_007294.3:c.825C>T	NP_009225.1:p.Gly275=	NC_000017.10:g.41246723G>A	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.814_824dupGAGCCATGTGG (p.Thr276Serfs)	672	BRCA1	not provided	387906563	RCV000049155;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246724	41246734	NM_007294.3:c.814_824dupGAGCCATGTGG	NP_009225.1:p.Thr276Serfs		-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.815_824dupAGCCATGTGG (p.Thr276Alafs)	672	BRCA1	Pathogenic	387906563	RCV000074602; RCV000019258; RCV000049156; RCV000129599;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246724	41246733	NM_007294.3:c.815_824dupAGCCATGTGG	NP_009225.1:p.Thr276Alafs		OMIM Allelic Variant:113705.0029	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.824G>A (p.Gly275Asp)	672	BRCA1	Uncertain significance	397509327	RCV000049159; RCV000195398; RCV000120298; RCV000130114;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:CN169374	17	41246724	41246724	NM_007294.3:c.824G>A	NP_009225.1:p.Gly275Asp	NC_000017.10:g.41246724C>T	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.823G>A (p.Gly275Ser)	672	BRCA1	Likely benign;Uncertain significance	8176153	RCV000049158; RCV000112797; RCV000132245;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246725	41246725	NM_007294.3:c.823G>A	NP_009225.1:p.Gly275Ser	NC_000017.10:g.41246725C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.822T>A (p.Cys274Ter)	672	BRCA1	Pathogenic	80357331	RCV000049157; RCV000112796;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246726	41246726	NM_007294.3:c.822T>A	NP_009225.1:p.Cys274Ter	NC_000017.10:g.41246726A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.811G>C (p.Val271Leu)	672	BRCA1	Uncertain significance	80357244	RCV000049154; RCV000112795; RCV000168486;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41246737	41246737	NM_007294.3:c.811G>C	NP_009225.1:p.Val271Leu	NC_000017.10:g.41246737C>A,NC_000017.10:g.41246737C>G,NC_000017.10:g.41246737C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.809delA (p.His270Leufs)	672	BRCA1	Pathogenic	80357965	RCV000049147; RCV000112793;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246739	41246739	NM_007294.3:c.809delA	NP_009225.1:p.His270Leufs	NC_000017.10:g.41246739delT	Breast Cancer Information Core (BRCA1):928&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.800C>G (p.Ser267Ter)	672	BRCA1	Pathogenic	80357392	RCV000049146; RCV000112791;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246748	41246748	NM_007294.3:c.800C>G	NP_009225.1:p.Ser267Ter	NC_000017.10:g.41246748G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.798_799delTT (p.Ser267Lysfs)	672	BRCA1	Likely pathogenic;Pathogenic	80357724	RCV000049141; RCV000031279; RCV000167858; RCV000131867;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246749	41246750	NM_007294.3:c.798_799delTT	NP_009225.1:p.Ser267Lysfs	NC_000017.10:g.41246749_41246750delAA	Breast Cancer Information Core (BRCA1):916&base_change=del TT,Breast Cancer Information Core (BRCA1):917&base_change=del TT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.799dupT (p.Ser267Phefs)	672	BRCA1	not provided	397509323	RCV000049142;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246749	41246749	NM_007294.3:c.799dupT	NP_009225.1:p.Ser267Phefs	NC_000017.10:g.41246749dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.794_795delCT (p.Ser265Cysfs)	672	BRCA1	Pathogenic	80357955	RCV000049139; RCV000112788;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246753	41246754	NM_007294.3:c.794_795delCT	NP_009225.1:p.Ser265Cysfs	NC_000017.10:g.41246753_41246754delAG	Breast Cancer Information Core (BRCA1):913&base_change=del CT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.795T>C (p.Ser265=)	672	BRCA1	Benign;Likely benign;Uncertain significance	201441987	RCV000049140; RCV000112789; RCV000195323; RCV000163599;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246753	41246753	NM_007294.3:c.795T>C	NP_009225.1:p.Ser265=	NC_000017.10:g.41246753A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.791_794delGTTC (p.Ser264Metfs)	672	BRCA1	Pathogenic	80357707	RCV000049137; RCV000112786; RCV000215273;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246754	41246757	NM_007294.3:c.791_794delGTTC	NP_009225.1:p.Ser264Metfs	NC_000017.10:g.41246754_41246757delGAAC	Breast Cancer Information Core (BRCA1):910&base_change=del GTTC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.792T>G (p.Ser264Arg)	672	BRCA1	Uncertain significance	80357214	RCV000049138; RCV000112787;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246756	41246756	NM_007294.3:c.792T>G	NP_009225.1:p.Ser264Arg	NC_000017.10:g.41246756A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.791G>A (p.Ser264Asn)	672	BRCA1	not provided	397509322	RCV000049136;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246757	41246757	NM_007294.3:c.791G>A	NP_009225.1:p.Ser264Asn	NC_000017.10:g.41246757C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.790A>T (p.Ser264Cys)	672	BRCA1	not provided	397509321	RCV000049135;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246758	41246758	NM_007294.3:c.790A>T	NP_009225.1:p.Ser264Cys	NC_000017.10:g.41246758T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.789T>C (p.Gly263=)	672	BRCA1	not provided	397509320	RCV000049134;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246759	41246759	NM_007294.3:c.789T>C	NP_009225.1:p.Gly263=	NC_000017.10:g.41246759A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.788G>C (p.Gly263Ala)	672	BRCA1	not provided	397509319	RCV000049132;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246760	41246760	NM_007294.3:c.788G>C	NP_009225.1:p.Gly263Ala	NC_000017.10:g.41246760C>A,NC_000017.10:g.41246760C>G,NC_000017.10:g.41246760C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.788G>T (p.Gly263Val)	672	BRCA1	not provided	397509319	RCV000049133;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246760	41246760	NM_007294.3:c.788G>T	NP_009225.1:p.Gly263Val	NC_000017.10:g.41246760C>A,NC_000017.10:g.41246760C>G,NC_000017.10:g.41246760C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.787G>T (p.Gly263Cys)	672	BRCA1	not provided	397509318	RCV000049131;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246761	41246761	NM_007294.3:c.787G>T	NP_009225.1:p.Gly263Cys	NC_000017.10:g.41246761C>A,NC_000017.10:g.41246761C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.786G>A (p.Gln262=)	672	BRCA1	not provided	397509317	RCV000049130;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246762	41246762	NM_007294.3:c.786G>A	NP_009225.1:p.Gln262=	NC_000017.10:g.41246762C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.783T>G (p.Tyr261Ter)	672	BRCA1	Pathogenic	80357321	RCV000049129; RCV000031278; RCV000212162;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41246765	41246765	NM_007294.3:c.783T>G	NP_009225.1:p.Tyr261Ter	NC_000017.10:g.41246765A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007294.3(BRCA1):c.775delG (p.Glu259Lysfs)	672	BRCA1	Pathogenic	80357628	RCV000049128; RCV000112785;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246773	41246773	NM_007294.3:c.775delG	NP_009225.1:p.Glu259Lysfs	NC_000017.10:g.41246773delC	Breast Cancer Information Core (BRCA1):894&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.773C>G (p.Pro258Arg)	672	BRCA1	Uncertain significance	80357225	RCV000049127; RCV000112784; RCV000216393;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246775	41246775	NM_007294.3:c.773C>G	NP_009225.1:p.Pro258Arg	NC_000017.10:g.41246775G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.768_769insA (p.His257Thrfs)	672	BRCA1	not provided	397509316	RCV000049125;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246779	41246780	NM_007294.3:c.768_769insA	NP_009225.1:p.His257Thrfs	NC_000017.10:g.41246779_41246780insCT,NC_000017.10:g.41246779_41246780insT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.768_769insAG (p.His257Serfs)	672	BRCA1	not provided	397509316	RCV000049126;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246779	41246780	NM_007294.3:c.768_769insAG	NP_009225.1:p.His257Serfs	NC_000017.10:g.41246779_41246780insCT,NC_000017.10:g.41246779_41246780insT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.763G>T (p.Glu255Ter)	672	BRCA1	Pathogenic	80357009	RCV000049124; RCV000112783; RCV000162890;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246785	41246785	NM_007294.3:c.763G>T	NP_009225.1:p.Glu255Ter	NC_000017.10:g.41246785C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.757G>A (p.Ala253Thr)	672	BRCA1	Uncertain significance	80357293	RCV000049121; RCV000112782;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246791	41246791	NM_007294.3:c.757G>A	NP_009225.1:p.Ala253Thr	NC_000017.10:g.41246791C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.755G>A (p.Arg252His)	672	BRCA1	Uncertain significance	80357138	RCV000049120; RCV000112781; RCV000129300;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246793	41246793	NM_007294.3:c.755G>A	NP_009225.1:p.Arg252His	NC_000017.10:g.41246793C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.754C>T (p.Arg252Cys)	672	BRCA1	Likely benign;Uncertain significance	273902786	RCV000049119; RCV000083225; RCV000129256;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246794	41246794	NM_007294.3:c.754C>T	NP_009225.1:p.Arg252Cys	NC_000017.10:g.41246794G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.743C>A (p.Thr248Asn)	672	BRCA1	Uncertain significance	80357062	RCV000049118; RCV000112780;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246805	41246805	NM_007294.3:c.743C>A	NP_009225.1:p.Thr248Asn	NC_000017.10:g.41246805G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.742dupA (p.Thr248Asnfs)	672	BRCA1	not provided	397509314	RCV000049117;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246806	41246806	NM_007294.3:c.742dupA	NP_009225.1:p.Thr248Asnfs	NC_000017.10:g.41246806dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.737delT (p.Leu246Terfs)	672	BRCA1	Pathogenic	397509312	RCV000049114;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246811	41246811	NM_007294.3:c.737delT	NP_009225.1:p.Leu246Terfs	NC_000017.10:g.41246811delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.734A>T (p.Asp245Val)	672	BRCA1	Uncertain significance	80356865	RCV000049112; RCV000112778; RCV000212161; RCV000129392;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41246814	41246814	NM_007294.3:c.734A>T	NP_009225.1:p.Asp245Val	NC_000017.10:g.41246814T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.731delA (p.Asn244Metfs)	672	BRCA1	Pathogenic	80357700	RCV000049111; RCV000112777;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246817	41246817	NM_007294.3:c.731delA	NP_009225.1:p.Asn244Metfs	NC_000017.10:g.41246817delT	Breast Cancer Information Core (BRCA1):850&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.729T>G (p.Asn243Lys)	672	BRCA1	Uncertain significance	730881467	RCV000159944;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246819	41246819	NM_007294.3:c.729T>G	NP_009225.1:p.Asn243Lys	NC_000017.10:g.41246819A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.722C>T (p.Pro241Leu)	672	BRCA1	Uncertain significance	80357351	RCV000049109; RCV000112776; RCV000165175;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246826	41246826	NM_007294.3:c.722C>T	NP_009225.1:p.Pro241Leu	NC_000017.10:g.41246826G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.716A>G (p.His239Arg)	672	BRCA1	Uncertain significance	80357396	RCV000049107; RCV000112775; RCV000212160;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41246832	41246832	NM_007294.3:c.716A>G	NP_009225.1:p.His239Arg	NC_000017.10:g.41246832T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.707C>G (p.Thr236Ser)	672	BRCA1	Uncertain significance	80356990	RCV000049103; RCV000112774; RCV000214304;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41246841	41246841	NM_007294.3:c.707C>G	NP_009225.1:p.Thr236Ser	NC_000017.10:g.41246841G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.697_698delGT (p.Val233Asnfs)	672	BRCA1	Pathogenic	80357747	RCV000049102; RCV000031276; RCV000131861;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246850	41246851	NM_007294.3:c.697_698delGT	NP_009225.1:p.Val233Asnfs	NC_000017.10:g.41246850_41246851delAC	Breast Cancer Information Core (BRCA1):816&base_change=del GT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.694G>A (p.Asp232Asn)	672	BRCA1	Uncertain significance	55975699	RCV000049101; RCV000112773; RCV000131176;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246854	41246854	NM_007294.3:c.694G>A	NP_009225.1:p.Asp232Asn	NC_000017.10:g.41246854C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.693G>A (p.Thr231=)	672	BRCA1	Benign;Likely benign;Uncertain significance	62625298	RCV000159943; RCV000144222; RCV000049099; RCV000131383;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41246855	41246855	NM_007294.3:c.693G>A	NP_009225.1:p.Thr231=	NC_000017.10:g.41246855C>A,NC_000017.10:g.41246855C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.693G>T (p.Thr231=)	672	BRCA1	not provided	62625298	RCV000049100;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246855	41246855	NM_007294.3:c.693G>T	NP_009225.1:p.Thr231=	NC_000017.10:g.41246855C>A,NC_000017.10:g.41246855C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.692C>T (p.Thr231Met)	672	BRCA1	Uncertain significance	80357001	RCV000049098; RCV000112772; RCV000162837;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246856	41246856	NM_007294.3:c.692C>T	NP_009225.1:p.Thr231Met	NC_000017.10:g.41246856G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.677_678insC (p.Glu227Terfs)	672	BRCA1	not provided	397509307	RCV000049092;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246870	41246871	NM_007294.3:c.677_678insC	NP_009225.1:p.Glu227Terfs	NC_000017.10:g.41246870_41246871insG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.678T>A (p.Cys226Ter)	672	BRCA1	not provided	397509308	RCV000049093;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246870	41246870	NM_007294.3:c.678T>A	NP_009225.1:p.Cys226Ter	NC_000017.10:g.41246870A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.671-1G>A	672	BRCA1	not provided	80358020	RCV000049089;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41246878	41246878	NM_007294.3:c.671-1G>A		NC_000017.10:g.41246878C>A,NC_000017.10:g.41246878C>G,NC_000017.10:g.41246878C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.671-2A>C	672	BRCA1	Pathogenic	80358108	RCV000049090; RCV000112767;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41246879	41246879	NM_007294.3:c.671-2A>C		NC_000017.10:g.41246879T>G	Breast Cancer Information Core (BRCA1):790-2&base_change=A to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.671-248_671-246dupAGG	672	BRCA1	Benign	5820483	RCV000114976; RCV000191391;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41247123	41247125	NM_007294.3:c.671-248_671-246dupAGG		NC_000017.10:g.41247123_41247125dupCCT	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.667_668delAA (p.Lys223Glyfs)	672	BRCA1	not provided	397509305	RCV000049083;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41247865	41247866	NM_007294.3:c.667_668delAA	NP_009225.1:p.Lys223Glyfs	NC_000017.10:g.41247865_41247866delTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.668A>G (p.Lys223Arg)	672	BRCA1	not provided	397509306	RCV000049084;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41247865	41247865	NM_007294.3:c.668A>G	NP_009225.1:p.Lys223Arg	NC_000017.10:g.41247865T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.668delA (p.Lys223Argfs)	672	BRCA1	Pathogenic	80357745	RCV000049085; RCV000112758;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41247865	41247865	NM_007294.3:c.668delA	NP_009225.1:p.Lys223Argfs	NC_000017.10:g.41247865delT	Breast Cancer Information Core (BRCA1):787&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.661G>T (p.Ala221Ser)	672	BRCA1	Likely benign;Uncertain significance	80357088	RCV000049082; RCV000031271; RCV000200971; RCV000165438;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41247872	41247872	NM_007294.3:c.661G>T	NP_009225.1:p.Ala221Ser	NC_000017.10:g.41247872C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.655G>A (p.Asp219Asn)	672	BRCA1	Uncertain significance	273902779	RCV000049080; RCV000112756; RCV000130801;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41247878	41247878	NM_007294.3:c.655G>A	NP_009225.1:p.Asp219Asn	NC_000017.10:g.41247878C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.641A>G (p.Asp214Gly)	672	BRCA1	Uncertain significance	55680408	RCV000159942; RCV000031270; RCV000049077; RCV000168485; RCV000132068;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41247892	41247892	NM_007294.3:c.641A>G	NP_009225.1:p.Asp214Gly	NC_000017.10:g.41247892T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.637A>G (p.Arg213Gly)	672	BRCA1	Uncertain significance	80357081	RCV000049076; RCV000112755;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41247896	41247896	NM_007294.3:c.637A>G	NP_009225.1:p.Arg213Gly	NC_000017.10:g.41247896T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.624_625insAGGGATGAAATCAGGAGCCA (p.Pro209Argfs)	672	BRCA1	not provided	397509302	RCV000049074;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41247908	41247909	NM_007294.3:c.624_625insAGGGATGAAATCAGGAGCCA	NP_009225.1:p.Pro209Argfs	NC_000017.10:g.41247908_41247909insTGGCTCCTGATTTCATCCCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.625C>T (p.Pro209Ser)	672	BRCA1	Uncertain significance	730881466	RCV000159941; RCV000223566;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41247908	41247908	NM_007294.3:c.625C>T	NP_009225.1:p.Pro209Ser	NC_000017.10:g.41247908G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.616C>T (p.Gln206Ter)	672	BRCA1	Pathogenic	397509301	RCV000049071; RCV000218288;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41247917	41247917	NM_007294.3:c.616C>T	NP_009225.1:p.Gln206Ter	NC_000017.10:g.41247917G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.612G>C (p.Leu204Phe)	672	BRCA1	Uncertain significance	80357394	RCV000049070; RCV000112753; RCV000129590;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41247921	41247921	NM_007294.3:c.612G>C	NP_009225.1:p.Leu204Phe	NC_000017.10:g.41247921C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.601G>A (p.Asp201Asn)	672	BRCA1	Uncertain significance	80357109	RCV000049069; RCV000112752;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41247932	41247932	NM_007294.3:c.601G>A	NP_009225.1:p.Asp201Asn	NC_000017.10:g.41247932C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.594-2A>G	672	BRCA1	not provided	80358033	RCV000049068;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41247941	41247941	NM_007294.3:c.594-2A>G		NC_000017.10:g.41247941T>C,NC_000017.10:g.41247941T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.593+4A>G	672	BRCA1	Likely benign;Uncertain significance	80358154	RCV000049066; RCV000112748; RCV000217340;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41249257	41249257	NM_007294.3:c.593+4A>G		NC_000017.10:g.41249257T>C	Breast Cancer Information Core (BRCA1):712+4&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.572T>A (p.Val191Asp)	672	BRCA1	Likely benign;Uncertain significance	80357142	RCV000049064; RCV000112745; RCV000164187;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41249282	41249282	NM_007294.3:c.572T>A	NP_009225.1:p.Val191Asp	NC_000017.10:g.41249282A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.569_570insAACG (p.Val191Thrfs)	672	BRCA1	not provided	397509300	RCV000049062;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41249284	41249285	NM_007294.3:c.569_570insAACG	NP_009225.1:p.Val191Thrfs	NC_000017.10:g.41249284_41249285insCGTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.567T>C (p.Asp189=)	672	BRCA1	Uncertain significance	80356845	RCV000049061; RCV000112744;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41249287	41249287	NM_007294.3:c.567T>C	NP_009225.1:p.Asp189=	NC_000017.10:g.41249287A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.557C>T (p.Ser186Phe)	672	BRCA1	not provided	55688530	RCV000049058;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41249297	41249297	NM_007294.3:c.557C>T	NP_009225.1:p.Ser186Phe	NC_000017.10:g.41249297G>A,NC_000017.10:g.41249297G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.556T>G (p.Ser186Ala)	672	BRCA1	not provided	397509298	RCV000049055;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41249298	41249298	NM_007294.3:c.556T>G	NP_009225.1:p.Ser186Ala	NC_000017.10:g.41249298A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.548delG (p.Gly183Aspfs)	672	BRCA1	not provided	397509289	RCV000049014;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41249306	41249306	NM_007294.3:c.548delG	NP_009225.1:p.Gly183Aspfs	NC_000017.10:g.41249306delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.548-9delA	672	BRCA1	Benign;Likely benign;Uncertain significance	273902774	RCV000159865; RCV000031259; RCV000200830;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41249315	41249315	NM_007294.3:c.548-9delA		NC_000017.10:g.41249315delT	Breast Cancer Information Core (BRCA1):667-9&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.547+2T>A	672	BRCA1	Pathogenic	80358047	RCV000049009; RCV000031255; RCV000034759;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41251790	41251790	NM_007294.3:c.547+2T>A		NC_000017.10:g.41251790A>T	Breast Cancer Information Core (BRCA1):666+2&base_change=T to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.547+1G>T	672	BRCA1	Likely pathogenic;Pathogenic	80358030	RCV000049008; RCV000112730; RCV000216456; RCV000212159;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	17	41251791	41251791	NM_007294.3:c.547+1G>T		NC_000017.10:g.41251791C>A,NC_000017.10:g.41251791C>T	Breast Cancer Information Core (BRCA1):666+1&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.442-?_547+?(2)	672	BRCA1	Uncertain significance	-1	RCV000074595;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41251792	41251897	NM_007294.3:c.442-?_547+?(2)			-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.536delA (p.Tyr179Serfs)	672	BRCA1	not provided	397509273	RCV000048966;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41251803	41251803	NM_007294.3:c.536delA	NP_009225.1:p.Tyr179Serfs	NC_000017.10:g.41251803delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.529delT (p.Ser177Leufs)	672	BRCA1	Pathogenic	80357758	RCV000048916; RCV000112726;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251810	41251810	NM_007294.3:c.529delT	NP_009225.1:p.Ser177Leufs	NC_000017.10:g.41251810delA	Breast Cancer Information Core (BRCA1):648&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.520delC (p.Gln174Lysfs)	672	BRCA1	Pathogenic	80357639	RCV000048862; RCV000112725; RCV000222355;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41251819	41251819	NM_007294.3:c.520delC	NP_009225.1:p.Gln174Lysfs	NC_000017.10:g.41251819delG	Breast Cancer Information Core (BRCA1):639&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.514C>T (p.Gln172Ter)	672	BRCA1	Pathogenic	80356947	RCV000048816; RCV000077602;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251825	41251825	NM_007294.3:c.514C>T	NP_009225.1:p.Gln172Ter	NC_000017.10:g.41251825G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.514delC (p.Gln172Asnfs)	672	BRCA1	Pathogenic	80357872	RCV000048817; RCV000083216; RCV000212158; RCV000130785;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41251825	41251825	NM_007294.3:c.514delC	NP_009225.1:p.Gln172Asnfs	NC_000017.10:g.41251825delG	Breast Cancer Information Core (BRCA1):633&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.503A>C (p.Lys168Thr)	672	BRCA1	Uncertain significance	273901743	RCV000048744; RCV000112721;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251836	41251836	NM_007294.3:c.503A>C	NP_009225.1:p.Lys168Thr	NC_000017.10:g.41251836T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.493_494delCT (p.Leu165Glufs)	672	BRCA1	not provided	397509206	RCV000048700;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41251845	41251846	NM_007294.3:c.493_494delCT	NP_009225.1:p.Leu165Glufs	NC_000017.10:g.41251845_41251846delAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.494dupT (p.Arg166Glufs)	672	BRCA1	Pathogenic	80357762	RCV000048706; RCV000112720; RCV000220672;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41251845	41251845	NM_007294.3:c.494dupT	NP_009225.1:p.Arg166Glufs	NC_000017.10:g.41251845dupA	Breast Cancer Information Core (BRCA1):613&base_change=ins T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.493delC (p.Leu165Terfs)	672	BRCA1	Pathogenic	80357551	RCV000048701; RCV000112719;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251846	41251846	NM_007294.3:c.493delC	NP_009225.1:p.Leu165Terfs	NC_000017.10:g.41251846delG	Breast Cancer Information Core (BRCA1):612&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.490A>C (p.Thr164Pro)	672	BRCA1	Uncertain significance	80357384	RCV000048690; RCV000112718;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251849	41251849	NM_007294.3:c.490A>C	NP_009225.1:p.Thr164Pro	NC_000017.10:g.41251849T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.488delG (p.Arg163Lysfs)	672	BRCA1	not provided	397509202	RCV000048685;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41251851	41251851	NM_007294.3:c.488delG	NP_009225.1:p.Arg163Lysfs	NC_000017.10:g.41251851delC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.485_486delTG (p.Val162Glufs)	672	BRCA1	Pathogenic	80357708	RCV000048679; RCV000077588; RCV000162880;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251853	41251854	NM_007294.3:c.485_486delTG	NP_009225.1:p.Val162Glufs	NC_000017.10:g.41251853_41251854delCA	Breast Cancer Information Core (BRCA1):604&base_change=del TG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.484G>C (p.Val162Leu)	672	BRCA1	Uncertain significance	55816927	RCV000048678; RCV000112717; RCV000223399;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41251855	41251855	NM_007294.3:c.484G>C	NP_009225.1:p.Val162Leu	NC_000017.10:g.41251855C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.470_477delCTAACCTT (p.Ser157Trpfs)	672	BRCA1	not provided	397509190	RCV000048638;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41251862	41251869	NM_007294.3:c.470_477delCTAACCTT	NP_009225.1:p.Ser157Trpfs	NC_000017.10:g.41251862_41251869delAAGGTTAG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.472A>T (p.Asn158Tyr)	672	BRCA1	not provided	397509192	RCV000048644;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41251867	41251867	NM_007294.3:c.472A>T	NP_009225.1:p.Asn158Tyr	NC_000017.10:g.41251867T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.470_471delCT (p.Ser157Terfs)	672	BRCA1	Pathogenic	80357887	RCV000048637; RCV000031189; RCV000203622; RCV000131836;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41251868	41251869	NM_007294.3:c.470_471delCT	NP_009225.1:p.Ser157Terfs	NC_000017.10:g.41251868_41251869delAG	Breast Cancer Information Core (BRCA1):589&base_change=del CT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.470C>G (p.Ser157Cys)	672	BRCA1	Uncertain significance	80357045	RCV000048636; RCV000112715;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251869	41251869	NM_007294.3:c.470C>G	NP_009225.1:p.Ser157Cys	NC_000017.10:g.41251869G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.469T>C (p.Ser157Pro)	672	BRCA1	Uncertain significance	80356897	RCV000048634; RCV000112714;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251870	41251870	NM_007294.3:c.469T>C	NP_009225.1:p.Ser157Pro	NC_000017.10:g.41251870A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.463C>T (p.Gln155Ter)	672	BRCA1	not provided	80357180	RCV000048615;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41251876	41251876	NM_007294.3:c.463C>T	NP_009225.1:p.Gln155Ter	NC_000017.10:g.41251876G>A,NC_000017.10:g.41251876G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.457_458delAG (p.Ser153Cysfs)	672	BRCA1	not provided	397509185	RCV000048599;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41251881	41251882	NM_007294.3:c.457_458delAG	NP_009225.1:p.Ser153Cysfs	NC_000017.10:g.41251881_41251882delCT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.457A>C (p.Ser153Arg)	672	BRCA1	Likely benign;Uncertain significance	28897674	RCV000048598; RCV000031181; RCV000212157; RCV000131372;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41251882	41251882	NM_007294.3:c.457A>C	NP_009225.1:p.Ser153Arg	NC_000017.10:g.41251882T>C,NC_000017.10:g.41251882T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.455T>C (p.Leu152Pro)	672	BRCA1	Uncertain significance	80357275	RCV000048593; RCV000112710;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251884	41251884	NM_007294.3:c.455T>C	NP_009225.1:p.Leu152Pro	NC_000017.10:g.41251884A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.442_444delCAG (p.Gln148del)	672	BRCA1	Uncertain significance	397509175	RCV000048558; RCV000112683;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41251895	41251897	NM_007294.3:c.442_444delCAG	NP_009225.1:p.Gln148del	NC_000017.10:g.41251895_41251897delCTG	Breast Cancer Information Core (BRCA1):561&base_change=del CAG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.441+16_441+18delTTC	672	BRCA1	Benign	730881450	RCV000159863;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256121	41256123	NM_007294.3:c.441+16_441+18delTTC		NC_000017.10:g.41256121_41256123delGAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.441+16delT	672	BRCA1	Benign	730881449	RCV000159862;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256123	41256123	NM_007294.3:c.441+16delT		NC_000017.10:g.41256123delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.441+2T>A	672	BRCA1	not provided	397509173	RCV000048556;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256137	41256137	NM_007294.3:c.441+2T>A		NC_000017.10:g.41256137A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.441+1G>A	672	BRCA1	not provided	397509172	RCV000048555;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256138	41256138	NM_007294.3:c.441+1G>A		NC_000017.10:g.41256138C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.135-?_441+?del	672	BRCA1	Pathogenic	-1	RCV000074566;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256139	41258550	NM_007294.3:c.135-?_441+?del			-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.302-?_441+?(2)	672	BRCA1	Uncertain significance	-1	RCV000074577;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256139	41256278	NM_007294.3:c.302-?_441+?(2)			-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.437_440delCCTT (p.Ser146Cysfs)	672	BRCA1	not provided	397509168	RCV000048543;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256140	41256143	NM_007294.3:c.437_440delCCTT	NP_009225.1:p.Ser146Cysfs	NC_000017.10:g.41256140_41256143delAAGG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.431delA (p.Asn144Ilefs)	672	BRCA1	not provided	397509162	RCV000048520;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256149	41256149	NM_007294.3:c.431delA	NP_009225.1:p.Asn144Ilefs	NC_000017.10:g.41256149delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.427G>A (p.Glu143Lys)	672	BRCA1	Benign	80356991	RCV000159939; RCV000031161; RCV000048510; RCV000162967;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41256153	41256153	NM_007294.3:c.427G>A	NP_009225.1:p.Glu143Lys	NC_000017.10:g.41256153C>A,NC_000017.10:g.41256153C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00055	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.427G>T (p.Glu143Ter)	672	BRCA1	Pathogenic	80356991	RCV000074592; RCV000031162; RCV000048511; RCV000162876;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41256153	41256153	NM_007294.3:c.427G>T	NP_009225.1:p.Glu143Ter	NC_000017.10:g.41256153C>A,NC_000017.10:g.41256153C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.425C>A (p.Pro142His)	672	BRCA1	Benign	55971303	RCV000048505; RCV000112613; RCV000203643; RCV000034749; RCV000162718;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41256155	41256155	NM_007294.3:c.425C>A	NP_009225.1:p.Pro142His	NC_000017.10:g.41256155G>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00025	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.424C>G (p.Pro142Ala)	672	BRCA1	Uncertain significance	397509156	RCV000048500; RCV000163171;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256156	41256156	NM_007294.3:c.424C>G	NP_009225.1:p.Pro142Ala	NC_000017.10:g.41256156G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.412_418delCTACAGA (p.Leu138Valfs)	672	BRCA1	Pathogenic	80357816	RCV000048454; RCV000112562;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256162	41256168	NM_007294.3:c.412_418delCTACAGA	NP_009225.1:p.Leu138Valfs	NC_000017.10:g.41256162_41256168delTCTGTAG	Breast Cancer Information Core (BRCA1):531&base_change=del CTACAGA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.415C>T (p.Gln139Ter)	672	BRCA1	Pathogenic	80357372	RCV000048460; RCV000112573;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256165	41256165	NM_007294.3:c.415C>T	NP_009225.1:p.Gln139Ter	NC_000017.10:g.41256165G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.406dupA (p.Arg136Lysfs)	672	BRCA1	Pathogenic	80357709	RCV000048433; RCV000112503;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256174	41256174	NM_007294.3:c.406dupA	NP_009225.1:p.Arg136Lysfs	NC_000017.10:g.41256174dupT	Breast Cancer Information Core (BRCA1):525&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.399_400delTG (p.Ala134Glnfs)	672	BRCA1	Pathogenic	80357568	RCV000048404; RCV000112478;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256180	41256181	NM_007294.3:c.399_400delTG	NP_009225.1:p.Ala134Glnfs	NC_000017.10:g.41256180_41256181delCA	Breast Cancer Information Core (BRCA1):517&base_change=del GT	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.398G>A (p.Arg133His)	672	BRCA1	Likely benign;Uncertain significance	80357357	RCV000048401; RCV000031138; RCV000128888;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256182	41256182	NM_007294.3:c.398G>A	NP_009225.1:p.Arg133His	NC_000017.10:g.41256182C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.397C>T (p.Arg133Cys)	672	BRCA1	Uncertain significance	80357457	RCV000048398; RCV000112474; RCV000120267;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41256183	41256183	NM_007294.3:c.397C>T	NP_009225.1:p.Arg133Cys	NC_000017.10:g.41256183G>A,NC_000017.10:g.41256183G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys)	672	BRCA1	Benign	80357413	RCV000048395; RCV000083203; RCV000212156; RCV000162966;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41256184	41256184	NM_007294.3:c.396C>A	NP_009225.1:p.Asn132Lys	NC_000017.10:g.41256184G>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00119	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.391A>T (p.Arg131Ter)	672	BRCA1	Pathogenic	80357207	RCV000048380; RCV000112458;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256189	41256189	NM_007294.3:c.391A>T	NP_009225.1:p.Arg131Ter	NC_000017.10:g.41256189T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.390C>A (p.Tyr130Ter)	672	BRCA1	Pathogenic	80356888	RCV000159938; RCV000112439; RCV000048376; RCV000131881;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41256190	41256190	NM_007294.3:c.390C>A	NP_009225.1:p.Tyr130Ter	NC_000017.10:g.41256190G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.389A>T (p.Tyr130Phe)	672	BRCA1	Uncertain significance	56055578	RCV000048371; RCV000112438; RCV000152869;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41256191	41256191	NM_007294.3:c.389A>T	NP_009225.1:p.Tyr130Phe	NC_000017.10:g.41256191T>A,NC_000017.10:g.41256191T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007294.3(BRCA1):c.380G>A (p.Ser127Asn)	672	BRCA1	Uncertain significance	80357189	RCV000048339; RCV000112413; RCV000131802;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256200	41256200	NM_007294.3:c.380G>A	NP_009225.1:p.Ser127Asn	NC_000017.10:g.41256200C>A,NC_000017.10:g.41256200C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.375_376insT (p.Gln126Serfs)	672	BRCA1	not provided	397509101	RCV000048319;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256204	41256205	NM_007294.3:c.375_376insT	NP_009225.1:p.Gln126Serfs	NC_000017.10:g.41256204_41256205insA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.372C>A (p.Ile124=)	672	BRCA1	Uncertain significance	273900715	RCV000048306; RCV000112401;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256208	41256208	NM_007294.3:c.372C>A	NP_009225.1:p.Ile124=	NC_000017.10:g.41256208G>T	Breast Cancer Information Core (BRCA1):491&base_change=C to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.370A>G (p.Ile124Val)	672	BRCA1	Benign	80357448	RCV000048293; RCV000112397; RCV000162965;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256210	41256210	NM_007294.3:c.370A>G	NP_009225.1:p.Ile124Val	NC_000017.10:g.41256210T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00054	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.346G>A (p.Glu116Lys)	672	BRCA1	not provided	397509071	RCV000048206;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256234	41256234	NM_007294.3:c.346G>A	NP_009225.1:p.Glu116Lys	NC_000017.10:g.41256234C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.342_343delTC (p.Pro115Terfs)	672	BRCA1	Pathogenic	80357881	RCV000048194; RCV000112349;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256237	41256238	NM_007294.3:c.342_343delTC	NP_009225.1:p.Pro115Terfs	NC_000017.10:g.41256237_41256238delGA	Breast Cancer Information Core (BRCA1):461&base_change=del TC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.340T>C (p.Ser114Pro)	672	BRCA1	not provided	397509062	RCV000048181;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256240	41256240	NM_007294.3:c.340T>C	NP_009225.1:p.Ser114Pro	NC_000017.10:g.41256240A>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.332A>C (p.Glu111Ala)	672	BRCA1	Uncertain significance	80357312	RCV000048149; RCV000112332;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256248	41256248	NM_007294.3:c.332A>C	NP_009225.1:p.Glu111Ala	NC_000017.10:g.41256248T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.329_330delAG (p.Lys110Argfs)	672	BRCA1	Pathogenic	80357754	RCV000048131; RCV000077541;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256250	41256251	NM_007294.3:c.329_330delAG	NP_009225.1:p.Lys110Argfs	NC_000017.10:g.41256250_41256251delCT	Breast Cancer Information Core (BRCA1):448&base_change=del AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.329A>C (p.Lys110Thr)	672	BRCA1	not provided	397509053	RCV000048130;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256251	41256251	NM_007294.3:c.329A>C	NP_009225.1:p.Lys110Thr	NC_000017.10:g.41256251T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.321delT (p.Phe107Leufs)	672	BRCA1	Pathogenic	80357544	RCV000048102; RCV000112310;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256259	41256259	NM_007294.3:c.321delT	NP_009225.1:p.Phe107Leufs	NC_000017.10:g.41256259delA	Breast Cancer Information Core (BRCA1):440&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.317delA (p.Asn106Ilefs)	672	BRCA1	Pathogenic	80357950	RCV000048094; RCV000112304;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256263	41256263	NM_007294.3:c.317delA	NP_009225.1:p.Asn106Ilefs	NC_000017.10:g.41256263delT	Breast Cancer Information Core (BRCA1):436&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.305C>G (p.Ala102Gly)	672	BRCA1	Likely benign;Uncertain significance	80357190	RCV000048062; RCV000031086; RCV000203639; RCV000166160;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41256275	41256275	NM_007294.3:c.305C>G	NP_009225.1:p.Ala102Gly	NC_000017.10:g.41256275G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.302-1G>A	672	BRCA1	Pathogenic	80358116	RCV000048043; RCV000112246;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256279	41256279	NM_007294.3:c.302-1G>A		NC_000017.10:g.41256279C>A,NC_000017.10:g.41256279C>G,NC_000017.10:g.41256279C>T	Breast Cancer Information Core (BRCA1):421-1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.302-1G>C	672	BRCA1	Pathogenic	80358116	RCV000048044; RCV000191156;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256279	41256279	NM_007294.3:c.302-1G>C		NC_000017.10:g.41256279C>A,NC_000017.10:g.41256279C>G,NC_000017.10:g.41256279C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00121	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.302-2A>C	672	BRCA1	Pathogenic	80358011	RCV000048045; RCV000031081;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256280	41256280	NM_007294.3:c.302-2A>C		NC_000017.10:g.41256280T>A,NC_000017.10:g.41256280T>C,NC_000017.10:g.41256280T>G	Breast Cancer Information Core (BRCA1):421-2&base_change=A to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.302-2A>G	672	BRCA1	not provided	80358011	RCV000048046;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256280	41256280	NM_007294.3:c.302-2A>G		NC_000017.10:g.41256280T>A,NC_000017.10:g.41256280T>C,NC_000017.10:g.41256280T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.302-3C>G	672	BRCA1	Likely pathogenic;Pathogenic	80358051	RCV000048048; RCV000031082; RCV000219090;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41256281	41256281	NM_007294.3:c.302-3C>G		NC_000017.10:g.41256281G>C	Breast Cancer Information Core (BRCA1):421-3&base_change=C to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.292G>C (p.Gly98Arg)	672	BRCA1	Uncertain significance	80357409	RCV000048015; RCV000112224;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256894	41256894	NM_007294.3:c.292G>C	NP_009225.1:p.Gly98Arg	NC_000017.10:g.41256894C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.290_291delCA (p.Thr97Argfs)	672	BRCA1	Pathogenic	80357738	RCV000048003; RCV000112223;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256895	41256896	NM_007294.3:c.290_291delCA	NP_009225.1:p.Thr97Argfs	NC_000017.10:g.41256895_41256896delTG	Breast Cancer Information Core (BRCA1):409&base_change=del CA	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.286G>A (p.Asp96Asn)	672	BRCA1	Uncertain significance	80357110	RCV000047995; RCV000112214;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256900	41256900	NM_007294.3:c.286G>A	NP_009225.1:p.Asp96Asn	NC_000017.10:g.41256900C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.269_281delTTTGTGCTTTTCA (p.Ile90Serfs)	672	BRCA1	Pathogenic	80359879	RCV000047937; RCV000112179;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256905	41256917	NM_007294.3:c.269_281delTTTGTGCTTTTCA	NP_009225.1:p.Ile90Serfs	NC_000017.10:g.41256905_41256917delTGAAAAGCACAAA	Breast Cancer Information Core (BRCA1):388&base_change=del 13	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.273T>G (p.Cys91Trp)	672	BRCA1	not provided	397509006	RCV000047953;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256913	41256913	NM_007294.3:c.273T>G	NP_009225.1:p.Cys91Trp	NC_000017.10:g.41256913A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.269T>C (p.Ile90Thr)	672	BRCA1	Uncertain significance	80357174	RCV000047936; RCV000112178;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256917	41256917	NM_007294.3:c.269T>C	NP_009225.1:p.Ile90Thr	NC_000017.10:g.41256917A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.267C>G (p.Ile89Met)	672	BRCA1	Likely benign;Uncertain significance	80356963	RCV000047926; RCV000112171; RCV000223325;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41256919	41256919	NM_007294.3:c.267C>G	NP_009225.1:p.Ile89Met	NC_000017.10:g.41256919G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.266T>C (p.Ile89Thr)	672	BRCA1	Uncertain significance	80357097	RCV000047918; RCV000112168; RCV000220067;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41256920	41256920	NM_007294.3:c.266T>C	NP_009225.1:p.Ile89Thr	NC_000017.10:g.41256920A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.241C>T (p.Gln81Ter)	672	BRCA1	Pathogenic	80357350	RCV000047834; RCV000112105;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256945	41256945	NM_007294.3:c.241C>T	NP_009225.1:p.Gln81Ter	NC_000017.10:g.41256945G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.232delA (p.Arg78Aspfs)	672	BRCA1	Pathogenic	80357884	RCV000047802; RCV000112087;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256954	41256954	NM_007294.3:c.232delA	NP_009225.1:p.Arg78Aspfs	NC_000017.10:g.41256954delT	Breast Cancer Information Core (BRCA1):351&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.231G>T (p.Thr77=)	672	BRCA1	Uncertain significance	80356847	RCV000047798; RCV000112084;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256955	41256955	NM_007294.3:c.231G>T	NP_009225.1:p.Thr77=	NC_000017.10:g.41256955C>A,NC_000017.10:g.41256955C>G,NC_000017.10:g.41256955C>T	Breast Cancer Information Core (BRCA1):350&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.230C>G (p.Thr77Arg)	672	BRCA1	not provided	80357209	RCV000047792;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256956	41256956	NM_007294.3:c.230C>G	NP_009225.1:p.Thr77Arg	NC_000017.10:g.41256956G>A,NC_000017.10:g.41256956G>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.230C>T (p.Thr77Met)	672	BRCA1	Uncertain significance	80357209	RCV000047793; RCV000077514; RCV000216581;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41256956	41256956	NM_007294.3:c.230C>T	NP_009225.1:p.Thr77Met	NC_000017.10:g.41256956G>A,NC_000017.10:g.41256956G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.230delCinsGTCAACTTGTT (p.Thr77Serfs)	672	BRCA1	not provided	397508957	RCV000047794;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256956	41256956	NM_007294.3:c.230delCinsGTCAACTTGTT	NP_009225.1:p.Thr77Serfs	NC_000017.10:g.41256956delGinsAACAAGTTGAC	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.224_227delAAAG (p.Glu75Valfs)	672	BRCA1	Pathogenic	80357697	RCV000047774; RCV000112060;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256959	41256962	NM_007294.3:c.224_227delAAAG	NP_009225.1:p.Glu75Valfs	NC_000017.10:g.41256959_41256962delCTTT	Breast Cancer Information Core (BRCA1):343&base_change=del AAAG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.222A>C (p.Gln74His)	672	BRCA1	Uncertain significance	730881465	RCV000159937;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256964	41256964	NM_007294.3:c.222A>C	NP_009225.1:p.Gln74His	NC_000017.10:g.41256964T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.220C>T (p.Gln74Ter)	672	BRCA1	Pathogenic	80357234	RCV000047758; RCV000112044;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256966	41256966	NM_007294.3:c.220C>T	NP_009225.1:p.Gln74Ter	NC_000017.10:g.41256966G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.216C>A (p.Ser72Arg)	672	BRCA1	Uncertain significance	80356967	RCV000047740; RCV000077507;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256970	41256970	NM_007294.3:c.216C>A	NP_009225.1:p.Ser72Arg	NC_000017.10:g.41256970G>C,NC_000017.10:g.41256970G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.216C>G (p.Ser72Arg)	672	BRCA1	Uncertain significance	80356967	RCV000159936;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256970	41256970	NM_007294.3:c.216C>G	NP_009225.1:p.Ser72Arg	NC_000017.10:g.41256970G>C,NC_000017.10:g.41256970G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.213-1G>A	672	BRCA1	Pathogenic	80358146	RCV000047727; RCV000112026;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41256974	41256974	NM_007294.3:c.213-1G>A		NC_000017.10:g.41256974C>T	Breast Cancer Information Core (BRCA1):332-1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.213-2A>C	672	BRCA1	not provided	397508940	RCV000047728;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41256975	41256975	NM_007294.3:c.213-2A>C		NC_000017.10:g.41256975T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.213-11T>G	672	BRCA1	Pathogenic	80358061	RCV000074570; RCV000031030; RCV000047725; RCV000131898;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41256984	41256984	NM_007294.3:c.213-11T>G		NC_000017.10:g.41256984A>C	Breast Cancer Information Core (BRCA1):332-11&base_change=T to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.213-12A>G	672	BRCA1	Pathogenic	80358163	RCV000047726; RCV000031031; RCV000167772; RCV000131900;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41256985	41256985	NM_007294.3:c.213-12A>G		NC_000017.10:g.41256985T>C	Breast Cancer Information Core (BRCA1):332-12&base_change=A to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.212+3A>G	672	BRCA1	Pathogenic	80358083	RCV000047719; RCV000083178;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258470	41258470	NM_007294.3:c.212+3A>G		NC_000017.10:g.41258470T>C	Breast Cancer Information Core (BRCA1):331+3&base_change=A to G,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.212+2T>C	672	BRCA1	Pathogenic	80358026	RCV000047718; RCV000112021;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258471	41258471	NM_007294.3:c.212+2T>C		NC_000017.10:g.41258471A>G	Breast Cancer Information Core (BRCA1):331+2&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.212+1G>A	672	BRCA1	Pathogenic	80358042	RCV000047715; RCV000031027;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258472	41258472	NM_007294.3:c.212+1G>A		NC_000017.10:g.41258472C>A,NC_000017.10:g.41258472C>G,NC_000017.10:g.41258472C>T	Breast Cancer Information Core (BRCA1):331+1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.212+1G>C	672	BRCA1	Pathogenic	80358042	RCV000047716; RCV000112018;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258472	41258472	NM_007294.3:c.212+1G>C		NC_000017.10:g.41258472C>A,NC_000017.10:g.41258472C>G,NC_000017.10:g.41258472C>T	Breast Cancer Information Core (BRCA1):331+1&base_change=G to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.212+1G>T	672	BRCA1	Pathogenic	80358042	RCV000047717; RCV000112019; RCV000218717;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41258472	41258472	NM_007294.3:c.212+1G>T		NC_000017.10:g.41258472C>A,NC_000017.10:g.41258472C>G,NC_000017.10:g.41258472C>T	Breast Cancer Information Core (BRCA1):331+1&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.212G>A (p.Arg71Lys)	672	BRCA1	Pathogenic	80356913	RCV000047724; RCV000112023;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258473	41258473	NM_007294.3:c.212G>A	NP_009225.1:p.Arg71Lys	NC_000017.10:g.41258473C>A,NC_000017.10:g.41258473C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.211A>G (p.Arg71Gly)	672	BRCA1	Likely pathogenic;Pathogenic	80357382	RCV000047713; RCV000019263; RCV000195359; RCV000131899;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41258474	41258474	NM_007294.3:c.211A>G	NP_009225.1:p.Arg71Gly	NC_000017.10:g.41258474T>C	OMIM Allelic Variant:113705.0034	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.211dupA (p.Arg71Lysfs)	672	BRCA1	not provided	397508938	RCV000047714;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258474	41258474	NM_007294.3:c.211dupA	NP_009225.1:p.Arg71Lysfs	NC_000017.10:g.41258474dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.206C>A (p.Thr69Asn)	672	BRCA1	Uncertain significance	273898675	RCV000047698; RCV000112007;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258479	41258479	NM_007294.3:c.206C>A	NP_009225.1:p.Thr69Asn	NC_000017.10:g.41258479G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.203_204delTA (p.Ile68Asnfs)	672	BRCA1	Pathogenic	398122651	RCV000159896; RCV000077090; RCV000132360;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258481	41258482	NM_007294.3:c.203_204delTA	NP_009225.1:p.Ile68Asnfs	NC_000017.10:g.41258481_41258482delTA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.203T>A (p.Ile68Lys)	672	BRCA1	Uncertain significance	80357116	RCV000047691; RCV000112001;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258482	41258482	NM_007294.3:c.203T>A	NP_009225.1:p.Ile68Lys	NC_000017.10:g.41258482A>C,NC_000017.10:g.41258482A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.203T>G (p.Ile68Arg)	672	BRCA1	Uncertain significance	80357116	RCV000047692; RCV000112002;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258482	41258482	NM_007294.3:c.203T>G	NP_009225.1:p.Ile68Arg	NC_000017.10:g.41258482A>C,NC_000017.10:g.41258482A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.201T>G (p.Asp67Glu)	672	BRCA1	Uncertain significance	80357033	RCV000047686; RCV000111996;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258484	41258484	NM_007294.3:c.201T>G	NP_009225.1:p.Asp67Glu	NC_000017.10:g.41258484A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr)	672	BRCA1	Benign	80357102	RCV000047675; RCV000083176; RCV000195312; RCV000162582; RCV000148404;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN221562	17	41258486	41258486	NM_007294.3:c.199G>T	NP_009225.1:p.Asp67Tyr	NC_000017.10:g.41258486C>A,NC_000017.10:g.41258486C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00052	CN221562 Breast and/or ovarian cancer; C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.195delG (p.Asn66Metfs)	672	BRCA1	Pathogenic	80357869	RCV000047656; RCV000111986;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258490	41258490	NM_007294.3:c.195delG	NP_009225.1:p.Asn66Metfs	NC_000017.10:g.41258490delC	Breast Cancer Information Core (BRCA1):314&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.190_193delTGTA (p.Cys64Argfs)	672	BRCA1	not provided	397508917	RCV000047635;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258492	41258495	NM_007294.3:c.190_193delTGTA	NP_009225.1:p.Cys64Argfs	NC_000017.10:g.41258492_41258495delTACA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.191G>A (p.Cys64Tyr)	672	BRCA1	Pathogenic	55851803	RCV000047641; RCV000077501; RCV000131896;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258494	41258494	NM_007294.3:c.191G>A	NP_009225.1:p.Cys64Tyr	NC_000017.10:g.41258494C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.190T>G (p.Cys64Gly)	672	BRCA1	Pathogenic;Uncertain significance	80357064	RCV000047634; RCV000019228; RCV000129894;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258495	41258495	NM_007294.3:c.190T>G	NP_009225.1:p.Cys64Gly	NC_000017.10:g.41258495A>C,NC_000017.10:g.41258495A>G	OMIM Allelic Variant:113705.0001	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.190T>C (p.Cys64Arg)	672	BRCA1	Pathogenic;Uncertain significance	80357064	RCV000047633; RCV000083174; RCV000130787;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258495	41258495	NM_007294.3:c.190T>C	NP_009225.1:p.Cys64Arg	NC_000017.10:g.41258495A>C,NC_000017.10:g.41258495A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.189dupA (p.Cys64Metfs)	672	BRCA1	Pathogenic	273897665	RCV000047629; RCV000111973;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258496	41258496	NM_007294.3:c.189dupA	NP_009225.1:p.Cys64Metfs	NC_000017.10:g.41258496dupT	Breast Cancer Information Core (BRCA1):308&base_change=ins A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.188T>A (p.Leu63Ter)	672	BRCA1	Pathogenic	80357086	RCV000047620; RCV000077499; RCV000162847;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258497	41258497	NM_007294.3:c.188T>A	NP_009225.1:p.Leu63Ter	NC_000017.10:g.41258497A>G,NC_000017.10:g.41258497A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.188T>C (p.Leu63Ser)	672	BRCA1	not provided	80357086	RCV000047621;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258497	41258497	NM_007294.3:c.188T>C	NP_009225.1:p.Leu63Ser	NC_000017.10:g.41258497A>G,NC_000017.10:g.41258497A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.182_183delGT (p.Cys61Serfs)	672	BRCA1	Likely pathogenic	397508912	RCV000047603; RCV000169282;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258502	41258503	NM_007294.3:c.182_183delGT	NP_009225.1:p.Cys61Serfs	NC_000017.10:g.41258502_41258503delAC	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr)	672	BRCA1	Pathogenic;Uncertain significance	80357093	RCV000047602; RCV000077497;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258503	41258503	NM_007294.3:c.182G>A	NP_009225.1:p.Cys61Tyr	NC_000017.10:g.41258503C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.181T>G (p.Cys61Gly)	672	BRCA1	Pathogenic	28897672	RCV000159935; RCV000019229; RCV000047597; RCV000131902;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41258504	41258504	NM_007294.3:c.181T>G	NP_009225.1:p.Cys61Gly	NC_000017.10:g.41258504A>C,NC_000017.10:g.41258504A>G,NC_000017.10:g.41258504A>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00099,OMIM Allelic Var	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.181T>A (p.Cys61Ser)	672	BRCA1	not provided	28897672	RCV000047595;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258504	41258504	NM_007294.3:c.181T>A	NP_009225.1:p.Cys61Ser	NC_000017.10:g.41258504A>C,NC_000017.10:g.41258504A>G,NC_000017.10:g.41258504A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.181T>C (p.Cys61Arg)	672	BRCA1	Uncertain significance	28897672	RCV000047596; RCV000111959;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258504	41258504	NM_007294.3:c.181T>C	NP_009225.1:p.Cys61Arg	NC_000017.10:g.41258504A>C,NC_000017.10:g.41258504A>G,NC_000017.10:g.41258504A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.178_179delCA (p.Gln60Valfs)	672	BRCA1	not provided	397508907	RCV000047586;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258506	41258507	NM_007294.3:c.178_179delCA	NP_009225.1:p.Gln60Valfs	NC_000017.10:g.41258506_41258507delTG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.179delA (p.Gln60Argfs)	672	BRCA1	Pathogenic	80357591	RCV000047589; RCV000083173;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258506	41258506	NM_007294.3:c.179delA	NP_009225.1:p.Gln60Argfs	NC_000017.10:g.41258506delT	Breast Cancer Information Core (BRCA1):298&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.178C>T (p.Gln60Ter)	672	BRCA1	Pathogenic	80357471	RCV000047585; RCV000077496;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258507	41258507	NM_007294.3:c.178C>T	NP_009225.1:p.Gln60Ter	NC_000017.10:g.41258507G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.172C>G (p.Pro58Ala)	672	BRCA1	not provided	397508904	RCV000047572;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258513	41258513	NM_007294.3:c.172C>G	NP_009225.1:p.Pro58Ala	NC_000017.10:g.41258513G>C,NC_000017.10:g.41258513G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.168A>T (p.Lys56Asn)	672	BRCA1	not provided	397508898	RCV000047560;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258517	41258517	NM_007294.3:c.168A>T	NP_009225.1:p.Lys56Asn	NC_000017.10:g.41258517T>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.167A>G (p.Lys56Arg)	672	BRCA1	not provided	397508897	RCV000047558;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258518	41258518	NM_007294.3:c.167A>G	NP_009225.1:p.Lys56Arg	NC_000017.10:g.41258518T>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.160C>T (p.Gln54Ter)	672	BRCA1	Pathogenic	80356864	RCV000047539; RCV000111916; RCV000131840;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258525	41258525	NM_007294.3:c.160C>T	NP_009225.1:p.Gln54Ter	NC_000017.10:g.41258525G>A,NC_000017.10:g.41258525G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.160delC (p.Gln54Argfs)	672	BRCA1	not provided	397508890	RCV000047540;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258525	41258525	NM_007294.3:c.160delC	NP_009225.1:p.Gln54Argfs	NC_000017.10:g.41258525delG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe)	672	BRCA1	Uncertain significance	80357084	RCV000047519; RCV000031002; RCV000164750;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258531	41258531	NM_007294.3:c.154C>T	NP_009225.1:p.Leu52Phe	NC_000017.10:g.41258531G>A,NC_000017.10:g.41258531G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.150delA (p.Lys50Asnfs)	672	BRCA1	Pathogenic	273897662	RCV000047504; RCV000111894;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258535	41258535	NM_007294.3:c.150delA	NP_009225.1:p.Lys50Asnfs	NC_000017.10:g.41258535delT	Breast Cancer Information Core (BRCA1):269&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.146T>G (p.Leu49Arg)	672	BRCA1	Uncertain significance	273897660	RCV000047487; RCV000111885;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258539	41258539	NM_007294.3:c.146T>G	NP_009225.1:p.Leu49Arg	NC_000017.10:g.41258539A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.144delG (p.Met48Ilefs)	672	BRCA1	Pathogenic	80357682	RCV000047480; RCV000111883;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258541	41258541	NM_007294.3:c.144delG	NP_009225.1:p.Met48Ilefs	NC_000017.10:g.41258541delC	Breast Cancer Information Core (BRCA1):263&base_change=del G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.140G>A (p.Cys47Tyr)	672	BRCA1	not provided	80357150	RCV000047468;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258545	41258545	NM_007294.3:c.140G>A	NP_009225.1:p.Cys47Tyr	NC_000017.10:g.41258545C>A,NC_000017.10:g.41258545C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.140G>T (p.Cys47Phe)	672	BRCA1	Uncertain significance	80357150	RCV000047469; RCV000111876;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258545	41258545	NM_007294.3:c.140G>T	NP_009225.1:p.Cys47Phe	NC_000017.10:g.41258545C>A,NC_000017.10:g.41258545C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.139T>G (p.Cys47Gly)	672	BRCA1	Uncertain significance	80357370	RCV000047464; RCV000111868;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258546	41258546	NM_007294.3:c.139T>G	NP_009225.1:p.Cys47Gly	NC_000017.10:g.41258546A>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.135A>T (p.Lys45Asn)	672	BRCA1	Uncertain significance	80356883	RCV000047439; RCV000111861;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258550	41258550	NM_007294.3:c.135A>T	NP_009225.1:p.Lys45Asn	NC_000017.10:g.41258550T>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.135-1G>T	672	BRCA1	Pathogenic	80358158	RCV000047435; RCV000030985; RCV000131843;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258551	41258551	NM_007294.3:c.135-1G>T		NC_000017.10:g.41258551C>A,NC_000017.10:g.41258551C>G	Breast Cancer Information Core (BRCA1):254-1&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.135-1G>C	672	BRCA1	Pathogenic	80358158	RCV000047434; RCV000111858;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41258551	41258551	NM_007294.3:c.135-1G>C		NC_000017.10:g.41258551C>A,NC_000017.10:g.41258551C>G	Breast Cancer Information Core (BRCA1):254-1&base_change=G to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.135-6T>G	672	BRCA1	not provided	397508859	RCV000047436;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41258556	41258556	NM_007294.3:c.135-6T>G		NC_000017.10:g.41258556A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.134+3_134+6delAAGT	672	BRCA1	not provided	397508858	RCV000047431;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267737	41267740	NM_007294.3:c.134+3_134+6delAAGT		NC_000017.10:g.41267737_41267740delACTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.133_134+3delAAGTAinsT	672	BRCA1	not provided	397508856	RCV000047425;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267740	41267744	NM_007294.3:c.133_134+3delAAGTAinsT		NC_000017.10:g.41267740_41267744delTACTTinsA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.134+3A>C	672	BRCA1	Uncertain significance	80358064	RCV000047430; RCV000111851;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267740	41267740	NM_007294.3:c.134+3A>C		NC_000017.10:g.41267740T>G	Breast Cancer Information Core (BRCA1):253+3&base_change=A to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.134+2T>G	672	BRCA1	Pathogenic	80358131	RCV000047428; RCV000111849;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267741	41267741	NM_007294.3:c.134+2T>G		NC_000017.10:g.41267741A>C,NC_000017.10:g.41267741A>G	Breast Cancer Information Core (BRCA1):253+2&base_change=T to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.134+2delT	672	BRCA1	Uncertain significance	273897657	RCV000047429; RCV000111850;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267741	41267741	NM_007294.3:c.134+2delT		NC_000017.10:g.41267741delA	Breast Cancer Information Core (BRCA1):253+2&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.134+1G>T	672	BRCA1	Pathogenic	80358043	RCV000047427; RCV000111848;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267742	41267742	NM_007294.3:c.134+1G>T		NC_000017.10:g.41267742C>A,NC_000017.10:g.41267742C>G	Breast Cancer Information Core (BRCA1):253+1&base_change=G to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.134A>C (p.Lys45Thr)	672	BRCA1	Uncertain significance	80356863	RCV000047432; RCV000030983; RCV000212155; RCV000166686;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41267743	41267743	NM_007294.3:c.134A>C	NP_009225.1:p.Lys45Thr	NC_000017.10:g.41267743T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.133_134delAA (p.Lys45Ilefs)	672	BRCA1	Pathogenic	397508857	RCV000047426;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267743	41267744	NM_007294.3:c.133_134delAA	NP_009225.1:p.Lys45Ilefs	NC_000017.10:g.41267743_41267744delTT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.131G>A (p.Cys44Tyr)	672	BRCA1	Pathogenic	80357446	RCV000047417; RCV000077486;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267746	41267746	NM_007294.3:c.131G>A	NP_009225.1:p.Cys44Tyr	NC_000017.10:g.41267746C>A,NC_000017.10:g.41267746C>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00114	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe)	672	BRCA1	Pathogenic;Uncertain significance	80357446	RCV000047418; RCV000077487; RCV000166901;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267746	41267746	NM_007294.3:c.131G>T	NP_009225.1:p.Cys44Phe	NC_000017.10:g.41267746C>A,NC_000017.10:g.41267746C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.130T>A (p.Cys44Ser)	672	BRCA1	Pathogenic	80357327	RCV000047409; RCV000111838; RCV000222092;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41267747	41267747	NM_007294.3:c.130T>A	NP_009225.1:p.Cys44Ser	NC_000017.10:g.41267747A>C,NC_000017.10:g.41267747A>G,NC_000017.10:g.41267747A>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00115	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.130T>C (p.Cys44Arg)	672	BRCA1	not provided	80357327	RCV000047410;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267747	41267747	NM_007294.3:c.130T>C	NP_009225.1:p.Cys44Arg	NC_000017.10:g.41267747A>C,NC_000017.10:g.41267747A>G,NC_000017.10:g.41267747A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.130T>G (p.Cys44Gly)	672	BRCA1	not provided	80357327	RCV000047411;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267747	41267747	NM_007294.3:c.130T>G	NP_009225.1:p.Cys44Gly	NC_000017.10:g.41267747A>C,NC_000017.10:g.41267747A>G,NC_000017.10:g.41267747A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.130delT (p.Cys44Alafs)	672	BRCA1	Pathogenic	80357951	RCV000047412; RCV000077485;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267747	41267747	NM_007294.3:c.130delT	NP_009225.1:p.Cys44Alafs	NC_000017.10:g.41267747delA	Breast Cancer Information Core (BRCA1):249&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.124A>G (p.Ile42Val)	672	BRCA1	Uncertain significance	80357163	RCV000047390; RCV000083167;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267753	41267753	NM_007294.3:c.124A>G	NP_009225.1:p.Ile42Val	NC_000017.10:g.41267753T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.124delA (p.Ile42Tyrfs)	672	BRCA1	Pathogenic	80357943	RCV000047391; RCV000111825;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267753	41267753	NM_007294.3:c.124delA	NP_009225.1:p.Ile42Tyrfs	NC_000017.10:g.41267753delT	Breast Cancer Information Core (BRCA1):243&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.122A>G (p.His41Arg)	672	BRCA1	Pathogenic	80357276	RCV000047383; RCV000111820;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267755	41267755	NM_007294.3:c.122A>G	NP_009225.1:p.His41Arg	NC_000017.10:g.41267755T>C	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00130	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.122delA (p.His41Profs)	672	BRCA1	not provided	397508847	RCV000047384;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267755	41267755	NM_007294.3:c.122delA	NP_009225.1:p.His41Profs	NC_000017.10:g.41267755delT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.117_118delTG (p.Cys39Terfs)	672	BRCA1	Pathogenic	80357972	RCV000047373; RCV000077484; RCV000162845;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267759	41267760	NM_007294.3:c.117_118delTG	NP_009225.1:p.Cys39Terfs	NC_000017.10:g.41267759_41267760delCA	Breast Cancer Information Core (BRCA1):236&base_change=del TG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.116G>A (p.Cys39Tyr)	672	BRCA1	Pathogenic;Uncertain significance	80357498	RCV000047370; RCV000030973; RCV000222558;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41267761	41267761	NM_007294.3:c.116G>A	NP_009225.1:p.Cys39Tyr	NC_000017.10:g.41267761C>A,NC_000017.10:g.41267761C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.115T>A (p.Cys39Ser)	672	BRCA1	Uncertain significance	80357164	RCV000047365; RCV000111803;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267762	41267762	NM_007294.3:c.115T>A	NP_009225.1:p.Cys39Ser	NC_000017.10:g.41267762A>C,NC_000017.10:g.41267762A>G,NC_000017.10:g.41267762A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.115T>C (p.Cys39Arg)	672	BRCA1	Pathogenic	80357164	RCV000047366; RCV000077483;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267762	41267762	NM_007294.3:c.115T>C	NP_009225.1:p.Cys39Arg	NC_000017.10:g.41267762A>C,NC_000017.10:g.41267762A>G,NC_000017.10:g.41267762A>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00113	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.115T>G (p.Cys39Gly)	672	BRCA1	not provided	80357164	RCV000047367;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267762	41267762	NM_007294.3:c.115T>G	NP_009225.1:p.Cys39Gly	NC_000017.10:g.41267762A>C,NC_000017.10:g.41267762A>G,NC_000017.10:g.41267762A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.114G>A (p.Lys38=)	672	BRCA1	Benign	1800062	RCV000123876; RCV000111799; RCV000047360; RCV000168479; RCV000162531;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41267763	41267763	NM_007294.3:c.114G>A	NP_009225.1:p.Lys38=	NC_000017.10:g.41267763C>A,NC_000017.10:g.41267763C>T	Breast Cancer Information Core (BRCA1):233&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.114G>T (p.Lys38Asn)	672	BRCA1	Uncertain significance	1800062	RCV000047361; RCV000111800;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267763	41267763	NM_007294.3:c.114G>T	NP_009225.1:p.Lys38Asn	NC_000017.10:g.41267763C>A,NC_000017.10:g.41267763C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys)	672	BRCA1	Pathogenic	80356880	RCV000047344; RCV000111781;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267767	41267767	NM_007294.3:c.110C>A	NP_009225.1:p.Thr37Lys	NC_000017.10:g.41267767G>C,NC_000017.10:g.41267767G>T	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00112	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.110C>G (p.Thr37Arg)	672	BRCA1	Likely pathogenic;Uncertain significance	80356880	RCV000047345; RCV000077482; RCV000164121;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267767	41267767	NM_007294.3:c.110C>G	NP_009225.1:p.Thr37Arg	NC_000017.10:g.41267767G>C,NC_000017.10:g.41267767G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.101delC (p.Pro34Leufs)	672	BRCA1	Pathogenic	80357750	RCV000047312; RCV000111768;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267776	41267776	NM_007294.3:c.101delC	NP_009225.1:p.Pro34Leufs	NC_000017.10:g.41267776delG	Breast Cancer Information Core (BRCA1):220&base_change=del C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.97G>C (p.Glu33Gln)	672	BRCA1	Uncertain significance	80357066	RCV000049208; RCV000111754;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267780	41267780	NM_007294.3:c.97G>C	NP_009225.1:p.Glu33Gln	NC_000017.10:g.41267780C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.93C>G (p.Ile31Met)	672	BRCA1	Uncertain significance	80357000	RCV000049196; RCV000111750;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267784	41267784	NM_007294.3:c.93C>G	NP_009225.1:p.Ile31Met	NC_000017.10:g.41267784G>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.89T>A (p.Leu30Ter)	672	BRCA1	not provided	397509331	RCV000049180;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267788	41267788	NM_007294.3:c.89T>A	NP_009225.1:p.Leu30Ter	NC_000017.10:g.41267788A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.85G>T (p.Glu29Ter)	672	BRCA1	Pathogenic	80357443	RCV000049175; RCV000031288;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267792	41267792	NM_007294.3:c.85G>T	NP_009225.1:p.Glu29Ter	NC_000017.10:g.41267792C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.83_84delTG (p.Leu28Argfs)	672	BRCA1	Pathogenic	80357728	RCV000049167; RCV000111730; RCV000216341;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41267793	41267794	NM_007294.3:c.83_84delTG	NP_009225.1:p.Leu28Argfs	NC_000017.10:g.41267793_41267794delCA	Breast Cancer Information Core (BRCA1):202&base_change=del TG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.83T>C (p.Leu28Pro)	672	BRCA1	Uncertain significance	80357266	RCV000049166; RCV000077631;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267794	41267794	NM_007294.3:c.83T>C	NP_009225.1:p.Leu28Pro	NC_000017.10:g.41267794A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.81-1G>C	672	BRCA1	not provided	80358018	RCV000049148;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267797	41267797	NM_007294.3:c.81-1G>C		NC_000017.10:g.41267797C>G,NC_000017.10:g.41267797C>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.81-2A>G	672	BRCA1	not provided	397509326	RCV000049149;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267798	41267798	NM_007294.3:c.81-2A>G		NC_000017.10:g.41267798T>C,NC_000017.10:g.41267798T>G	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.81-2delA	672	BRCA1	Pathogenic	273902791	RCV000049150; RCV000111716;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267798	41267798	NM_007294.3:c.81-2delA		NC_000017.10:g.41267798delT	Breast Cancer Information Core (BRCA1):200-2&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.81-6T>A	672	BRCA1	not provided	80358179	RCV000049151;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41267802	41267802	NM_007294.3:c.81-6T>A		NC_000017.10:g.41267802A>G,NC_000017.10:g.41267802A>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.81-9C>G	672	BRCA1	Uncertain significance	80358127	RCV000049152; RCV000111718;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41267805	41267805	NM_007294.3:c.81-9C>G		NC_000017.10:g.41267805G>C	Breast Cancer Information Core (BRCA1):200-9&base_change=C to G	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.81-13C>A	672	BRCA1	Benign;Likely benign;Uncertain significance	56328013	RCV000159855; RCV000031281; RCV000206808;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370	17	41267809	41267809	NM_007294.3:c.81-13C>A		NC_000017.10:g.41267809G>C,NC_000017.10:g.41267809G>T	Breast Cancer Information Core (BRCA1):200-13&base_change=C to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_007294.3(BRCA1):c.81-13C>G	672	BRCA1	Benign	56328013	RCV000159856; RCV000031282; RCV000205708; RCV000152870;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41267809	41267809	NM_007294.3:c.81-13C>G		NC_000017.10:g.41267809G>C,NC_000017.10:g.41267809G>T	Breast Cancer Information Core (BRCA1):200-13&base_change=C to G,Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.80+6_80+9delTCAG	672	BRCA1	not provided	397509325	RCV000049145;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276025	41276028	NM_007294.3:c.80+6_80+9delTCAG		NC_000017.10:g.41276025_41276028delCTGA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.80+2dupT	672	BRCA1	not provided	397509324	RCV000049144;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276032	41276032	NM_007294.3:c.80+2dupT		NC_000017.10:g.41276032dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.80+1G>A	672	BRCA1	Pathogenic	80358010	RCV000049143; RCV000111704;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276033	41276033	NM_007294.3:c.80+1G>A		NC_000017.10:g.41276033C>A,NC_000017.10:g.41276033C>G,NC_000017.10:g.41276033C>T	Breast Cancer Information Core (BRCA1):199+1&base_change=G to A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.70_80delTGTCCCATCTG (p.Cys24Serfs)	672	BRCA1	Pathogenic	80357696	RCV000049106; RCV000111682; RCV000131391;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276034	41276044	NM_007294.3:c.70_80delTGTCCCATCTG	NP_009225.1:p.Cys24Serfs	NC_000017.10:g.41276034_41276044delCAGATGGGACA	Breast Cancer Information Core (BRCA1):188&base_change=del GTGTCCCATCT,Breast Cancer Information Core (BRCA1):189&base_change=del 11	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.75_80dupCATCTG (p.Cys27_Leu28insIleCys)	672	BRCA1	not provided	397509315	RCV000049123;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276034	41276039	NM_007294.3:c.75_80dupCATCTG	NP_009225.1:p.Cys27_Leu28insIleCys	NC_000017.10:g.41276034_41276039dupCAGATG	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.75C>T (p.Pro25=)	672	BRCA1	Benign;Likely benign	80356839	RCV000123879; RCV000111695; RCV000049122; RCV000168477; RCV000163150;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:CN169374	17	41276039	41276039	NM_007294.3:c.75C>T	NP_009225.1:p.Pro25=	NC_000017.10:g.41276039G>A	Breast Cancer Information Core (BRCA1):194&base_change=C to T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007294.3(BRCA1):c.73_74delCC (p.Pro25Hisfs)	672	BRCA1	Pathogenic	80357633	RCV000049116; RCV000111689;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276040	41276041	NM_007294.3:c.73_74delCC	NP_009225.1:p.Pro25Hisfs	NC_000017.10:g.41276040_41276041delGG	Breast Cancer Information Core (BRCA1):192&base_change=del CC	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.70_73dupTGTC (p.Pro25Leufs)	672	BRCA1	not provided	397509310	RCV000049105;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276041	41276044	NM_007294.3:c.70_73dupTGTC	NP_009225.1:p.Pro25Leufs	NC_000017.10:g.41276041_41276044dupGACA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.72_73delTC (p.Pro25Hisfs)	672	BRCA1	not provided	397509311	RCV000049110;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276041	41276042	NM_007294.3:c.72_73delTC	NP_009225.1:p.Pro25Hisfs	NC_000017.10:g.41276041_41276042delGA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.73C>A (p.Pro25Thr)	672	BRCA1	not provided	397509313	RCV000049115;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276041	41276041	NM_007294.3:c.73C>A	NP_009225.1:p.Pro25Thr	NC_000017.10:g.41276041G>T	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.71G>A (p.Cys24Tyr)	672	BRCA1	Uncertain significance	80357198	RCV000049108; RCV000111685; RCV000165179;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276043	41276043	NM_007294.3:c.71G>A	NP_009225.1:p.Cys24Tyr	NC_000017.10:g.41276043C>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.70T>C (p.Cys24Arg)	672	BRCA1	Uncertain significance	80357410	RCV000049104; RCV000111679;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276044	41276044	NM_007294.3:c.70T>C	NP_009225.1:p.Cys24Arg	NC_000017.10:g.41276044A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.68_69dupAG (p.Cys24Serfs)	672	BRCA1	Pathogenic	80357914	RCV000049096; RCV000143834; RCV000223371;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	41276045	41276046	NM_007294.3:c.68_69dupAG	NP_009225.1:p.Cys24Serfs	NC_000017.10:g.41276045_41276046dupCT	Breast Cancer Information Core (BRCA1):188&base_change=ins AG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007294.3(BRCA1):c.68dupA (p.Cys24Valfs)	672	BRCA1	not provided	397509309	RCV000049097;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276046	41276046	NM_007294.3:c.68dupA	NP_009225.1:p.Cys24Valfs	NC_000017.10:g.41276046dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs)	672	BRCA1	Pathogenic;risk factor	386833395	RCV000056295; RCV000019230; RCV000019231; RCV000034761; RCV000213650; RCV000131394;	Y	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2676676,OMIM:604370; MedGen:C3280442,OMIM:614320; MedGen:CN221809	17	41276047	41276048	NM_007294.3:c.68_69delAG	NP_009225.1:p.Glu23Valfs	NC_000017.10:g.41276047_41276048delCT	Breast Cancer Information Core (BRCA1):185&base_change=del AG,OMIM Allelic Variant:113705.0003	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C3280442 614320 Pancreatic c
NM_007294.3(BRCA1):c.66_67insC (p.Glu23Argfs)	672	BRCA1	not provided	80357783	RCV000049086;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276047	41276048	NM_007294.3:c.66_67insC	NP_009225.1:p.Glu23Argfs	NC_000017.10:g.41276047_41276048insG,NC_000017.10:g.41276048dupT	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.64_65delTT (p.Leu22Argfs)	672	BRCA1	not provided	397509304	RCV000049078;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276049	41276050	NM_007294.3:c.64_65delTT	NP_009225.1:p.Leu22Argfs	NC_000017.10:g.41276049_41276050delAA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.65T>C (p.Leu22Ser)	672	BRCA1	Pathogenic	80357438	RCV000049081; RCV000083224; RCV000162704;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276049	41276049	NM_007294.3:c.65T>C	NP_009225.1:p.Leu22Ser	NC_000017.10:g.41276049A>G	Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation:BRCA1_00111	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.64delT (p.Leu22Terfs)	672	BRCA1	Pathogenic	80357803	RCV000049079; RCV000111669;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276050	41276050	NM_007294.3:c.64delT	NP_009225.1:p.Leu22Terfs	NC_000017.10:g.41276050delA	Breast Cancer Information Core (BRCA1):183&base_change=del T	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.62dupT (p.Glu23Argfs)	672	BRCA1	not provided	397509303	RCV000049075;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276052	41276052	NM_007294.3:c.62dupT	NP_009225.1:p.Glu23Argfs	NC_000017.10:g.41276052dupA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.61A>G (p.Ile21Val)	672	BRCA1	Likely benign;Uncertain significance	80357406	RCV000049072; RCV000111663; RCV000131702;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276053	41276053	NM_007294.3:c.61A>G	NP_009225.1:p.Ile21Val	NC_000017.10:g.41276053T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.61delA (p.Ile21Serfs)	672	BRCA1	Uncertain significance	273902778	RCV000049073; RCV000111664;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276053	41276053	NM_007294.3:c.61delA	NP_009225.1:p.Ile21Serfs	NC_000017.10:g.41276053delT	Breast Cancer Information Core (BRCA1):180&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.55C>T (p.Gln19Ter)	672	BRCA1	not provided	397509299	RCV000049060;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276059	41276059	NM_007294.3:c.55C>T	NP_009225.1:p.Gln19Ter	NC_000017.10:g.41276059G>A	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.53T>C (p.Met18Thr)	672	BRCA1	Likely pathogenic;Uncertain significance	80356929	RCV000048972; RCV000031245; RCV000212154; RCV000131693;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41276061	41276061	NM_007294.3:c.53T>C	NP_009225.1:p.Met18Thr	NC_000017.10:g.41276061A>G,NC_000017.10:g.41276061A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.53T>A (p.Met18Lys)	672	BRCA1	Uncertain significance	80356929	RCV000048971; RCV000111654;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276061	41276061	NM_007294.3:c.53T>A	NP_009225.1:p.Met18Lys	NC_000017.10:g.41276061A>G,NC_000017.10:g.41276061A>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.45delT (p.Asn16Metfs)	672	BRCA1	Pathogenic	730881457	RCV000159895;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276069	41276069	NM_007294.3:c.45delT	NP_009225.1:p.Asn16Metfs	NC_000017.10:g.41276069delA	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.44T>C (p.Ile15Thr)	672	BRCA1	Uncertain significance	80357316	RCV000048581; RCV000111641;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276070	41276070	NM_007294.3:c.44T>C	NP_009225.1:p.Ile15Thr	NC_000017.10:g.41276070A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.43A>C (p.Ile15Leu)	672	BRCA1	Likely benign;Uncertain significance	80357031	RCV000048552; RCV000111636; RCV000132290;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276071	41276071	NM_007294.3:c.43A>C	NP_009225.1:p.Ile15Leu	NC_000017.10:g.41276071T>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.42C>A (p.Val14=)	672	BRCA1	Likely benign;Uncertain significance	80356827	RCV000048516; RCV000031164;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276072	41276072	NM_007294.3:c.42C>A	NP_009225.1:p.Val14=	NC_000017.10:g.41276072G>A,NC_000017.10:g.41276072G>T	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.37_40delAATG (p.Asn13Serfs)	672	BRCA1	Pathogenic	80357530	RCV000048337; RCV000111621; RCV000162865;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276074	41276077	NM_007294.3:c.37_40delAATG	NP_009225.1:p.Asn13Serfs	NC_000017.10:g.41276074_41276077delCATT	Breast Cancer Information Core (BRCA1):156&base_change=del AATG	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.34C>T (p.Gln12Ter)	672	BRCA1	Pathogenic	80357134	RCV000048217; RCV000111614;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276080	41276080	NM_007294.3:c.34C>T	NP_009225.1:p.Gln12Ter	NC_000017.10:g.41276080G>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.32_33insC (p.Gln12Thrfs)	672	BRCA1	Pathogenic	80357811	RCV000048134; RCV000111610;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276081	41276082	NM_007294.3:c.32_33insC	NP_009225.1:p.Gln12Thrfs	NC_000017.10:g.41276081_41276082insG	Breast Cancer Information Core (BRCA1):151&base_change=ins C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.32T>C (p.Val11Ala)	672	BRCA1	Uncertain significance	80357017	RCV000048133; RCV000111609;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276082	41276082	NM_007294.3:c.32T>C	NP_009225.1:p.Val11Ala	NC_000017.10:g.41276082A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.8T>G (p.Leu3Ter)	672	BRCA1	not provided	397509332	RCV000049181;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	41276106	41276106	NM_007294.3:c.8T>G	NP_009225.1:p.Leu3Ter	NC_000017.10:g.41276106A>C	-	C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.3G>T (p.Met1Ile)	672	BRCA1	Pathogenic	80357475	RCV000048405; RCV000111552; RCV000131890;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276111	41276111	NM_007294.3:c.3G>T	NP_009225.1:p.Met1Ile	NC_000017.10:g.41276111C>A	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007294.3(BRCA1):c.2T>C (p.Met1Thr)	672	BRCA1	Pathogenic	80357111	RCV000048037; RCV000111545;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276112	41276112	NM_007294.3:c.2T>C	NP_009225.1:p.Met1Thr	NC_000017.10:g.41276112A>C,NC_000017.10:g.41276112A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.2T>G (p.Met1Arg)	672	BRCA1	Pathogenic	80357111	RCV000048038; RCV000111546;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276112	41276112	NM_007294.3:c.2T>G	NP_009225.1:p.Met1Arg	NC_000017.10:g.41276112A>C,NC_000017.10:g.41276112A>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_007294.3(BRCA1):c.1A>G (p.Met1Val)	672	BRCA1	Pathogenic	80357287	RCV000047677; RCV000077503; RCV000212153; RCV000131905;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370; MedGen:CN221809	17	41276113	41276113	NM_007294.3:c.1A>G	NP_009225.1:p.Met1Val	NC_000017.10:g.41276113T>C	-	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007294.3(BRCA1):c.-19-10T>C	672	BRCA1	Benign	201866997	RCV000123877; RCV000111494;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2676676,OMIM:604370	17	41276142	41276142	NM_007294.3:c.-19-10T>C		NC_000017.10:g.41276142A>G	Breast Cancer Information Core (BRCA1):101-10&base_change=T to C	C2676676 604370 Breast-ovarian cancer, familial 1; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.-33T>C	675	BRCA2	not provided	397507566	RCV000043703;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32890565	32890565	NM_000059.3:c.-33T>C		NC_000013.10:g.32890565T>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.-26G>A	675	BRCA2	Benign	1799943	RCV000114981; RCV000112977;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890572	32890572	NM_000059.3:c.-26G>A		NC_000013.10:g.32890572G>A,NC_000013.10:g.32890572G>C,NC_000013.10:g.32890572G>T	Breast Cancer Information Core (BRCA2):203&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2T>C (p.Met1Thr)	675	BRCA2	Pathogenic	80358547	RCV000044101; RCV000165930;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32890599	32890599	NM_000059.3:c.2T>C	NP_000050.2:p.Met1Thr	NC_000013.10:g.32890599T>C,NC_000013.10:g.32890599T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2T>G (p.Met1Arg)	675	BRCA2	Pathogenic	80358547	RCV000044102; RCV000113010; RCV000131870;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890599	32890599	NM_000059.3:c.2T>G	NP_000050.2:p.Met1Arg	NC_000013.10:g.32890599T>C,NC_000013.10:g.32890599T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3delG (p.Met1Ilefs)	675	BRCA2	Pathogenic	80359418	RCV000044329; RCV000031453;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890600	32890600	NM_000059.3:c.3delG	NP_000050.2:p.Met1Ilefs	NC_000013.10:g.32890600delG	Breast Cancer Information Core (BRCA2):231&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3G>A (p.Met1Ile)	675	BRCA2	Pathogenic	80358650	RCV000044328; RCV000083102; RCV000162893;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890600	32890600	NM_000059.3:c.3G>A	NP_000050.2:p.Met1Ile	NC_000013.10:g.32890600G>A,NC_000013.10:g.32890600G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5C>T (p.Pro2Leu)	675	BRCA2	Uncertain significance	80358836	RCV000044815; RCV000113015;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890602	32890602	NM_000059.3:c.5C>T	NP_000050.2:p.Pro2Leu	NC_000013.10:g.32890602C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5delC (p.Pro2Leufs)	675	BRCA2	not provided	397507820	RCV000044816;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32890602	32890602	NM_000059.3:c.5delC	NP_000050.2:p.Pro2Leufs	NC_000013.10:g.32890602delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10G>T (p.Gly4Ter)	675	BRCA2	not provided	397507571	RCV000043737;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32890607	32890607	NM_000059.3:c.10G>T	NP_000050.2:p.Gly4Ter	NC_000013.10:g.32890607G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.17_18delAA (p.Lys6Argfs)	675	BRCA2	Pathogenic	80359298	RCV000043891; RCV000113025;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890614	32890615	NM_000059.3:c.17_18delAA	NP_000050.2:p.Lys6Argfs	NC_000013.10:g.32890614_32890615delAA	Breast Cancer Information Core (BRCA2):245&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.22_23delAG (p.Arg8Alafs)	675	BRCA2	Pathogenic	397507623	RCV000043971; RCV000083090;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890619	32890620	NM_000059.3:c.22_23delAG	NP_000050.2:p.Arg8Alafs	NC_000013.10:g.32890619_32890620delAG	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.26C>T (p.Pro9Leu)	675	BRCA2	Uncertain significance	80358527	RCV000044040; RCV000113031;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890623	32890623	NM_000059.3:c.26C>T	NP_000050.2:p.Pro9Leu	NC_000013.10:g.32890623C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.34T>G (p.Phe12Val)	675	BRCA2	Uncertain significance	80358597	RCV000044208; RCV000077304; RCV000129690;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890631	32890631	NM_000059.3:c.34T>G	NP_000050.2:p.Phe12Val	NC_000013.10:g.32890631T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.36delT (p.Phe12Leufs)	675	BRCA2	Pathogenic	80359399	RCV000044247; RCV000113038;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890633	32890633	NM_000059.3:c.36delT	NP_000050.2:p.Phe12Leufs	NC_000013.10:g.32890633delT	Breast Cancer Information Core (BRCA2):264&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.36dupT (p.Glu13Terfs)	675	BRCA2	Pathogenic	80359393	RCV000044248; RCV000082917;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890633	32890633	NM_000059.3:c.36dupT	NP_000050.2:p.Glu13Terfs	NC_000013.10:g.32890633dupT	Breast Cancer Information Core (BRCA2):264&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.37G>T (p.Glu13Ter)	675	BRCA2	Pathogenic	80358622	RCV000044268; RCV000113040;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890634	32890634	NM_000059.3:c.37G>T	NP_000050.2:p.Glu13Ter	NC_000013.10:g.32890634G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.37_44delGAAATTTT (p.Glu13Terfs)	675	BRCA2	not provided	397507687	RCV000044269;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32890634	32890641	NM_000059.3:c.37_44delGAAATTTT	NP_000050.2:p.Glu13Terfs	NC_000013.10:g.32890634_32890641delGAAATTTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.51_52delAC (p.Arg18Leufs)	675	BRCA2	Pathogenic	80359483	RCV000044604; RCV000113063; RCV000219019; RCV000131871;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32890648	32890649	NM_000059.3:c.51_52delAC	NP_000050.2:p.Arg18Leufs	NC_000013.10:g.32890648_32890649delAC	Breast Cancer Information Core (BRCA2):279&base_change=del AC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.51dupA (p.Arg18Thrfs)	675	BRCA2	not provided	397507772	RCV000044605;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32890648	32890648	NM_000059.3:c.51dupA	NP_000050.2:p.Arg18Thrfs	NC_000013.10:g.32890648dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.53G>A (p.Arg18His)	675	BRCA2	Benign	80358762	RCV000044652; RCV000077351; RCV000162817;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890650	32890650	NM_000059.3:c.53G>A	NP_000050.2:p.Arg18His	NC_000013.10:g.32890650G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.62A>G (p.Lys21Arg)	675	BRCA2	Uncertain significance	397507367	RCV000160027; RCV000031614; RCV000122923; RCV000129552;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32890659	32890659	NM_000059.3:c.62A>G	NP_000050.2:p.Lys21Arg	NC_000013.10:g.32890659A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.63delA (p.Ala22Glnfs)	675	BRCA2	Pathogenic	80359582	RCV000044931; RCV000113077;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890660	32890660	NM_000059.3:c.63delA	NP_000050.2:p.Ala22Glnfs	NC_000013.10:g.32890660delA	Breast Cancer Information Core (BRCA2):291&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.67G>T (p.Asp23Tyr)	675	BRCA2	not provided	397507881	RCV000045049;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32890664	32890664	NM_000059.3:c.67G>T	NP_000050.2:p.Asp23Tyr	NC_000013.10:g.32890664G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.67+1G>A	675	BRCA2	Pathogenic	81002796	RCV000045021; RCV000077381; RCV000218090;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32890665	32890665	NM_000059.3:c.67+1G>A		NC_000013.10:g.32890665G>A,NC_000013.10:g.32890665G>T	Breast Cancer Information Core (BRCA2):295+1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.67+2T>A	675	BRCA2	Pathogenic	81002885	RCV000045023; RCV000113080;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32890666	32890666	NM_000059.3:c.67+2T>A		NC_000013.10:g.32890666T>A,NC_000013.10:g.32890666T>C	Breast Cancer Information Core (BRCA2):295+2&base_change=T to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.68-16T>A	675	BRCA2	not provided	397507882	RCV000045050;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893198	32893198	NM_000059.3:c.68-16T>A		NC_000013.10:g.32893198T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.68-9T>G	675	BRCA2	not provided	397507883	RCV000045053;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893205	32893205	NM_000059.3:c.68-9T>G		NC_000013.10:g.32893205T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.68-7T>A	675	BRCA2	Benign;Likely benign;Uncertain significance	81002830	RCV000074550; RCV000077384; RCV000045051; RCV000168529;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32893207	32893207	NM_000059.3:c.68-7T>A		NC_000013.10:g.32893207T>A	Breast Cancer Information Core (BRCA2):296-7&base_change=T to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.71T>A (p.Leu24Ter)	675	BRCA2	not provided	397507902	RCV000045162;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893217	32893217	NM_000059.3:c.71T>A	NP_000050.2:p.Leu24Ter	NC_000013.10:g.32893217T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.71delT (p.Leu24Terfs)	675	BRCA2	Pathogenic	397507903	RCV000045163; RCV000166421;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893217	32893217	NM_000059.3:c.71delT	NP_000050.2:p.Leu24Terfs	NC_000013.10:g.32893217delT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.72A>T (p.Leu24Phe)	675	BRCA2	not provided	397507909	RCV000045181;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893218	32893218	NM_000059.3:c.72A>T	NP_000050.2:p.Leu24Phe	NC_000013.10:g.32893218A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.73G>A (p.Gly25Arg)	675	BRCA2	Uncertain significance	80358961	RCV000045198; RCV000113091;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893219	32893219	NM_000059.3:c.73G>A	NP_000050.2:p.Gly25Arg	NC_000013.10:g.32893219G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.79A>G (p.Ile27Val)	675	BRCA2	Uncertain significance	80359034	RCV000045381; RCV000113106; RCV000164869;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893225	32893225	NM_000059.3:c.79A>G	NP_000050.2:p.Ile27Val	NC_000013.10:g.32893225A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.86_87delTT (p.Leu29Glnfs)	675	BRCA2	Pathogenic	80359722	RCV000045604; RCV000113114;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893232	32893233	NM_000059.3:c.86_87delTT	NP_000050.2:p.Leu29Glnfs	NC_000013.10:g.32893232_32893233delTT	Breast Cancer Information Core (BRCA2):314&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.91T>C (p.Trp31Arg)	675	BRCA2	Uncertain significance	80359182	RCV000045746; RCV000113123;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893237	32893237	NM_000059.3:c.91T>C	NP_000050.2:p.Trp31Arg	NC_000013.10:g.32893237T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.92G>A (p.Trp31Ter)	675	BRCA2	not provided	397508045	RCV000045785;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893238	32893238	NM_000059.3:c.92G>A	NP_000050.2:p.Trp31Ter	NC_000013.10:g.32893238G>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.93G>A (p.Trp31Ter)	675	BRCA2	not provided	80359214	RCV000045810;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893239	32893239	NM_000059.3:c.93G>A	NP_000050.2:p.Trp31Ter	NC_000013.10:g.32893239G>A,NC_000013.10:g.32893239G>C,NC_000013.10:g.32893239G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.93G>T (p.Trp31Cys)	675	BRCA2	Uncertain significance	80359214	RCV000045811; RCV000113126;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893239	32893239	NM_000059.3:c.93G>T	NP_000050.2:p.Trp31Cys	NC_000013.10:g.32893239G>A,NC_000013.10:g.32893239G>C,NC_000013.10:g.32893239G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.94T>C (p.Phe32Leu)	675	BRCA2	Uncertain significance	397508057	RCV000045835; RCV000132090;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893240	32893240	NM_000059.3:c.94T>C	NP_000050.2:p.Phe32Leu	NC_000013.10:g.32893240T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.97G>T (p.Glu33Ter)	675	BRCA2	not provided	397508065	RCV000045898;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893243	32893243	NM_000059.3:c.97G>T	NP_000050.2:p.Glu33Ter	NC_000013.10:g.32893243G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.100G>T (p.Glu34Ter)	675	BRCA2	Pathogenic	80358391	RCV000043711; RCV000113128; RCV000222288;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32893246	32893246	NM_000059.3:c.100G>T	NP_000050.2:p.Glu34Ter	NC_000013.10:g.32893246G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.115delG (p.Ala39Leufs)	675	BRCA2	not provided	397507573	RCV000043749;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893261	32893261	NM_000059.3:c.115delG	NP_000050.2:p.Ala39Leufs	NC_000013.10:g.32893261delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.121C>T (p.Pro41Ser)	675	BRCA2	Uncertain significance	80358415	RCV000043760; RCV000113156; RCV000167471;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893267	32893267	NM_000059.3:c.121C>T	NP_000050.2:p.Pro41Ser	NC_000013.10:g.32893267C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.128delA (p.Asn43Ilefs)	675	BRCA2	Pathogenic	80359275	RCV000043774; RCV000113163;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893274	32893274	NM_000059.3:c.128delA	NP_000050.2:p.Asn43Ilefs	NC_000013.10:g.32893274delA	Breast Cancer Information Core (BRCA2):356&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.133G>T (p.Glu45Ter)	675	BRCA2	not provided	397507581	RCV000043784;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893279	32893279	NM_000059.3:c.133G>T	NP_000050.2:p.Glu45Ter	NC_000013.10:g.32893279G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.136C>T (p.Pro46Ser)	675	BRCA2	Uncertain significance	80358425	RCV000043791; RCV000113176; RCV000164910;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893282	32893282	NM_000059.3:c.136C>T	NP_000050.2:p.Pro46Ser	NC_000013.10:g.32893282C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.151delG (p.Glu51Asnfs)	675	BRCA2	Pathogenic	80359287	RCV000043822; RCV000113193;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893297	32893297	NM_000059.3:c.151delG	NP_000050.2:p.Glu51Asnfs	NC_000013.10:g.32893297delG	Breast Cancer Information Core (BRCA2):379&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.158A>G (p.Lys53Arg)	675	BRCA2	not provided	397507595	RCV000043833;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893304	32893304	NM_000059.3:c.158A>G	NP_000050.2:p.Lys53Arg	NC_000013.10:g.32893304A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.161A>C (p.Asn54Thr)	675	BRCA2	Uncertain significance	80358445	RCV000043844; RCV000113203;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893307	32893307	NM_000059.3:c.161A>C	NP_000050.2:p.Asn54Thr	NC_000013.10:g.32893307A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.164A>G (p.Asn55Ser)	675	BRCA2	Uncertain significance	80358450	RCV000043854; RCV000113209; RCV000212200; RCV000129076;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32893310	32893310	NM_000059.3:c.164A>G	NP_000050.2:p.Asn55Ser	NC_000013.10:g.32893310A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.165_167delCAA (p.Asn56del)	675	BRCA2	Benign;Likely benign;Uncertain significance	11571587	RCV000160245; RCV000082888; RCV000205603; RCV000164468;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32893311	32893313	NM_000059.3:c.165_167delCAA	NP_000050.2:p.Asn56del	NC_000013.10:g.32893311_32893313delCAA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.167A>C (p.Asn56Thr)	675	BRCA2	Benign	80358454	RCV000043861; RCV000031332; RCV000212201; RCV000162996;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32893313	32893313	NM_000059.3:c.167A>C	NP_000050.2:p.Asn56Thr	NC_000013.10:g.32893313A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.170dupA (p.Tyr57Terfs)	675	BRCA2	Pathogenic	80359299	RCV000043865; RCV000113215;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893316	32893316	NM_000059.3:c.170dupA	NP_000050.2:p.Tyr57Terfs	NC_000013.10:g.32893316dupA	Breast Cancer Information Core (BRCA2):398&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.171C>G (p.Tyr57Ter)	675	BRCA2	not provided	201523522	RCV000043867;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893317	32893317	NM_000059.3:c.171C>G	NP_000050.2:p.Tyr57Ter	NC_000013.10:g.32893317C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.172G>T (p.Glu58Ter)	675	BRCA2	not provided	397507603	RCV000043868;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893318	32893318	NM_000059.3:c.172G>T	NP_000050.2:p.Glu58Ter	NC_000013.10:g.32893318G>A,NC_000013.10:g.32893318G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.191C>T (p.Thr64Ile)	675	BRCA2	Uncertain significance	397507615	RCV000043925; RCV000215512;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32893337	32893337	NM_000059.3:c.191C>T	NP_000050.2:p.Thr64Ile	NC_000013.10:g.32893337C>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.196C>T (p.Gln66Ter)	675	BRCA2	Pathogenic	397507617	RCV000043932; RCV000168531; RCV000164594;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893342	32893342	NM_000059.3:c.196C>T	NP_000050.2:p.Gln66Ter	NC_000013.10:g.32893342C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.198A>G (p.Gln66=)	675	BRCA2	Benign;Likely benign	28897700	RCV000043933; RCV000113265; RCV000167850; RCV000162901;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32893344	32893344	NM_000059.3:c.198A>G	NP_000050.2:p.Gln66=	NC_000013.10:g.32893344A>G	Breast Cancer Information Core (BRCA2):426&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.204delA (p.Lys68Asnfs)	675	BRCA2	Pathogenic	80359320	RCV000043939; RCV000113274;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893350	32893350	NM_000059.3:c.204delA	NP_000050.2:p.Lys68Asnfs	NC_000013.10:g.32893350delA	Breast Cancer Information Core (BRCA2):432&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.215A>G (p.Asn72Ser)	675	BRCA2	Uncertain significance	276174818	RCV000043952; RCV000113284; RCV000212202;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32893361	32893361	NM_000059.3:c.215A>G	NP_000050.2:p.Asn72Ser	NC_000013.10:g.32893361A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.215delAinsTT (p.Asn72Ilefs)	675	BRCA2	not provided	397507619	RCV000043953;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893361	32893361	NM_000059.3:c.215delAinsTT	NP_000050.2:p.Asn72Ilefs	NC_000013.10:g.32893361delAinsTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.226T>C (p.Ser76Pro)	675	BRCA2	not provided	397507622	RCV000043965;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893372	32893372	NM_000059.3:c.226T>C	NP_000050.2:p.Ser76Pro	NC_000013.10:g.32893372T>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.227C>G (p.Ser76Ter)	675	BRCA2	Pathogenic	80358498	RCV000043967; RCV000113296;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893373	32893373	NM_000059.3:c.227C>G	NP_000050.2:p.Ser76Ter	NC_000013.10:g.32893373C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.229A>G (p.Thr77Ala)	675	BRCA2	Uncertain significance	80358500	RCV000043970; RCV000031361; RCV000221509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32893375	32893375	NM_000059.3:c.229A>G	NP_000050.2:p.Thr77Ala	NC_000013.10:g.32893375A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.231T>G (p.Thr77=)	675	BRCA2	Benign;Likely benign	114446594	RCV000043973; RCV000119247; RCV000195302; RCV000176971; RCV000129199;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32893377	32893377	NM_000059.3:c.231T>G	NP_000050.2:p.Thr77=	NC_000013.10:g.32893377T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.235A>G (p.Ile79Val)	675	BRCA2	Uncertain significance	80358502	RCV000043979; RCV000031364;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893381	32893381	NM_000059.3:c.235A>G	NP_000050.2:p.Ile79Val	NC_000013.10:g.32893381A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.240A>G (p.Ile80Met)	675	BRCA2	Uncertain significance	80358505	RCV000043985; RCV000113305; RCV000130843;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893386	32893386	NM_000059.3:c.240A>G	NP_000050.2:p.Ile80Met	NC_000013.10:g.32893386A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.241T>A (p.Phe81Ile)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358507	RCV000043988; RCV000031366; RCV000217504; RCV000212203;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32893387	32893387	NM_000059.3:c.241T>A	NP_000050.2:p.Phe81Ile	NC_000013.10:g.32893387T>A,NC_000013.10:g.32893387T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.241T>C (p.Phe81Leu)	675	BRCA2	not provided	80358507	RCV000043989;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893387	32893387	NM_000059.3:c.241T>C	NP_000050.2:p.Phe81Leu	NC_000013.10:g.32893387T>A,NC_000013.10:g.32893387T>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.244A>T (p.Lys82Ter)	675	BRCA2	not provided	397507628	RCV000043997;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893390	32893390	NM_000059.3:c.244A>T	NP_000050.2:p.Lys82Ter	NC_000013.10:g.32893390A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.246dupA (p.Glu83Argfs)	675	BRCA2	not provided	397507630	RCV000044002;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893392	32893392	NM_000059.3:c.246dupA	NP_000050.2:p.Glu83Argfs	NC_000013.10:g.32893392dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.263T>G (p.Leu88Arg)	675	BRCA2	Uncertain significance	80358525	RCV000044031; RCV000113332;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893409	32893409	NM_000059.3:c.263T>G	NP_000050.2:p.Leu88Arg	NC_000013.10:g.32893409T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.263delT (p.Leu88Argfs)	675	BRCA2	Pathogenic	80359339	RCV000044032; RCV000113333;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893409	32893409	NM_000059.3:c.263delT	NP_000050.2:p.Leu88Argfs	NC_000013.10:g.32893409delT	Breast Cancer Information Core (BRCA2):491&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.266delC (p.Pro89Argfs)	675	BRCA2	Pathogenic	80359341	RCV000044035; RCV000113337;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893412	32893412	NM_000059.3:c.266delC	NP_000050.2:p.Pro89Argfs	NC_000013.10:g.32893412delC	Breast Cancer Information Core (BRCA2):494&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.273C>A (p.Tyr91Ter)	675	BRCA2	not provided	145988146	RCV000044045;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893419	32893419	NM_000059.3:c.273C>A	NP_000050.2:p.Tyr91Ter	NC_000013.10:g.32893419C>A,NC_000013.10:g.32893419C>G,NC_000013.10:g.32893419C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.273C>G (p.Tyr91Ter)	675	BRCA2	not provided	145988146	RCV000044046;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893419	32893419	NM_000059.3:c.273C>G	NP_000050.2:p.Tyr91Ter	NC_000013.10:g.32893419C>A,NC_000013.10:g.32893419C>G,NC_000013.10:g.32893419C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.274C>T (p.Gln92Ter)	675	BRCA2	Pathogenic	80358529	RCV000044048; RCV000031380; RCV000215800; RCV000212204;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	13	32893420	32893420	NM_000059.3:c.274C>T	NP_000050.2:p.Gln92Ter	NC_000013.10:g.32893420C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.276dupA (p.Ser93Ilefs)	675	BRCA2	Pathogenic	80359345	RCV000044051; RCV000113347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893422	32893422	NM_000059.3:c.276dupA	NP_000050.2:p.Ser93Ilefs	NC_000013.10:g.32893422dupA	Breast Cancer Information Core (BRCA2):504&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.289G>T (p.Glu97Ter)	675	BRCA2	Pathogenic	397507646	RCV000044083; RCV000083095; RCV000214710; RCV000166898;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32893435	32893435	NM_000059.3:c.289G>T	NP_000050.2:p.Glu97Ter	NC_000013.10:g.32893435G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.291_296delATTAGA (p.Glu97_Leu98del)	675	BRCA2	Uncertain significance	80359362	RCV000044086; RCV000113364; RCV000204993;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32893437	32893442	NM_000059.3:c.291_296delATTAGA	NP_000050.2:p.Glu97_Leu98del	NC_000013.10:g.32893437_32893442delATTAGA	Breast Cancer Information Core (BRCA2):519&base_change=del ATTAGA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_000059.3(BRCA2):c.292T>G (p.Leu98Val)	675	BRCA2	Uncertain significance	80358540	RCV000044089; RCV000113366;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893438	32893438	NM_000059.3:c.292T>G	NP_000050.2:p.Leu98Val	NC_000013.10:g.32893438T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.298A>T (p.Lys100Ter)	675	BRCA2	Pathogenic	80358546	RCV000044099; RCV000113370;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893444	32893444	NM_000059.3:c.298A>T	NP_000050.2:p.Lys100Ter	NC_000013.10:g.32893444A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.305A>G (p.Lys102Arg)	675	BRCA2	Uncertain significance	80358549	RCV000044109; RCV000113382;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893451	32893451	NM_000059.3:c.305A>G	NP_000050.2:p.Lys102Arg	NC_000013.10:g.32893451A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.306dupA (p.Leu103Ilefs)	675	BRCA2	not provided	397507654	RCV000044111;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893452	32893452	NM_000059.3:c.306dupA	NP_000050.2:p.Leu103Ilefs	NC_000013.10:g.32893452dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.314T>G (p.Leu105Ter)	675	BRCA2	Pathogenic	80358561	RCV000044126; RCV000077293; RCV000219806;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32893460	32893460	NM_000059.3:c.314T>G	NP_000050.2:p.Leu105Ter	NC_000013.10:g.32893460T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.316+2T>C	675	BRCA2	Likely pathogenic;Pathogenic	81002805	RCV000044128; RCV000113397; RCV000131849;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893464	32893464	NM_000059.3:c.316+2T>C		NC_000013.10:g.32893464T>C	Breast Cancer Information Core (BRCA2):544+2&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.316+4delA	675	BRCA2	not provided	397507656	RCV000044129;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893466	32893466	NM_000059.3:c.316+4delA		NC_000013.10:g.32893466delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.316+5G>C	675	BRCA2	not provided	81002840	RCV000044131;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32893467	32893467	NM_000059.3:c.316+5G>C		NC_000013.10:g.32893467G>A,NC_000013.10:g.32893467G>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.316+6T>C	675	BRCA2	Uncertain significance	81002900	RCV000044132; RCV000113398;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32893468	32893468	NM_000059.3:c.316+6T>C		NC_000013.10:g.32893468T>C	Breast Cancer Information Core (BRCA2):544+6&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.317-54C>G	675	BRCA2	Uncertain significance	81002891	RCV000044139; RCV000113406;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899159	32899159	NM_000059.3:c.317-54C>G		NC_000013.10:g.32899159C>G	Breast Cancer Information Core (BRCA2):545-54&base_change=C to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.317-12G>A	675	BRCA2	Benign;Uncertain significance	81002841	RCV000044137; RCV000113404; RCV000212205;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32899201	32899201	NM_000059.3:c.317-12G>A		NC_000013.10:g.32899201G>A	Breast Cancer Information Core (BRCA2):545-12&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.317-10A>G	675	BRCA2	Uncertain significance	81002824	RCV000044136; RCV000031406;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899203	32899203	NM_000059.3:c.317-10A>G		NC_000013.10:g.32899203A>G	Breast Cancer Information Core (BRCA2):545-10&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.323A>G (p.Asn108Ser)	675	BRCA2	Uncertain significance	80358568	RCV000044155; RCV000077298; RCV000221445; RCV000166938;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32899219	32899219	NM_000059.3:c.323A>G	NP_000050.2:p.Asn108Ser	NC_000013.10:g.32899219A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.341A>G (p.His114Arg)	675	BRCA2	Uncertain significance	80358586	RCV000044189; RCV000113436; RCV000214245;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32899237	32899237	NM_000059.3:c.341A>G	NP_000050.2:p.His114Arg	NC_000013.10:g.32899237A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.343A>G (p.Lys115Glu)	675	BRCA2	Uncertain significance	56242644	RCV000044193; RCV000113438; RCV000129695;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899239	32899239	NM_000059.3:c.343A>G	NP_000050.2:p.Lys115Glu	NC_000013.10:g.32899239A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.353G>A (p.Arg118His)	675	BRCA2	Likely benign;Uncertain significance	80358603	RCV000044218; RCV000031426; RCV000200972; RCV000164685;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32899249	32899249	NM_000059.3:c.353G>A	NP_000050.2:p.Arg118His	NC_000013.10:g.32899249G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.364delA (p.Thr122Leufs)	675	BRCA2	not provided	397507680	RCV000044236;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32899260	32899260	NM_000059.3:c.364delA	NP_000050.2:p.Thr122Leufs	NC_000013.10:g.32899260delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.370delA (p.Met124Trpfs)	675	BRCA2	not provided	397507681	RCV000044249;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32899266	32899266	NM_000059.3:c.370delA	NP_000050.2:p.Met124Trpfs	NC_000013.10:g.32899266delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.375T>A (p.Asp125Glu)	675	BRCA2	Uncertain significance	80358616	RCV000044258; RCV000113487; RCV000132463;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899271	32899271	NM_000059.3:c.375T>A	NP_000050.2:p.Asp125Glu	NC_000013.10:g.32899271T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.379G>T (p.Ala127Ser)	675	BRCA2	Likely benign;Uncertain significance	80358621	RCV000044267; RCV000077313;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899275	32899275	NM_000059.3:c.379G>T	NP_000050.2:p.Ala127Ser	NC_000013.10:g.32899275G>A,NC_000013.10:g.32899275G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.396T>A (p.Cys132Ter)	675	BRCA2	Pathogenic	397507320	RCV000044326; RCV000031450;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899292	32899292	NM_000059.3:c.396T>A	NP_000050.2:p.Cys132Ter	NC_000013.10:g.32899292T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.407delA (p.Asn136Ilefs)	675	BRCA2	Pathogenic	80359425	RCV000044342; RCV000031457; RCV000131981;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899303	32899303	NM_000059.3:c.407delA	NP_000050.2:p.Asn136Ilefs	NC_000013.10:g.32899303delA	Breast Cancer Information Core (BRCA2):635&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.410delC (p.Ser137Phefs)	675	BRCA2	Pathogenic	80359427	RCV000044352; RCV000113539;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899306	32899306	NM_000059.3:c.410delC	NP_000050.2:p.Ser137Phefs	NC_000013.10:g.32899306delC	Breast Cancer Information Core (BRCA2):638&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.416T>C (p.Leu139Pro)	675	BRCA2	Uncertain significance	80358660	RCV000044365; RCV000113552; RCV000216759;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32899312	32899312	NM_000059.3:c.416T>C	NP_000050.2:p.Leu139Pro	NC_000013.10:g.32899312T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.418A>G (p.Ser140Gly)	675	BRCA2	Uncertain significance	80358662	RCV000044371; RCV000113556;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32899314	32899314	NM_000059.3:c.418A>G	NP_000050.2:p.Ser140Gly	NC_000013.10:g.32899314A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile)	675	BRCA2	Likely pathogenic	397507713	RCV000044379; RCV000213168;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32899321	32899321	NM_000059.3:c.425G>T	NP_000050.2:p.Ser142Ile	NC_000013.10:g.32899321G>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.426-47G>T	675	BRCA2	Uncertain significance	81002842	RCV000044383; RCV000113569;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900191	32900191	NM_000059.3:c.426-47G>T		NC_000013.10:g.32900191G>T	Breast Cancer Information Core (BRCA2):654-47&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.426-37T>A	675	BRCA2	Uncertain significance	81002859	RCV000044382; RCV000113568;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900201	32900201	NM_000059.3:c.426-37T>A		NC_000013.10:g.32900201T>A	Breast Cancer Information Core (BRCA2):654-37&base_change=T to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.426-17G>A	675	BRCA2	Uncertain significance	81002799	RCV000044381; RCV000113567;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900221	32900221	NM_000059.3:c.426-17G>A		NC_000013.10:g.32900221G>A,NC_000013.10:g.32900221G>T	Breast Cancer Information Core (BRCA2):654-17&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.433_435delGTT (p.Val145del)	675	BRCA2	Likely benign;Uncertain significance	80359442	RCV000044397; RCV000031476; RCV000202422; RCV000164811;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32900245	32900247	NM_000059.3:c.433_435delGTT	NP_000050.2:p.Val145del	NC_000013.10:g.32900245_32900247delGTT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.438delA (p.Gln147Asnfs)	675	BRCA2	not provided	397507716	RCV000044403;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900250	32900250	NM_000059.3:c.438delA	NP_000050.2:p.Gln147Asnfs	NC_000013.10:g.32900250delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.439C>T (p.Gln147Ter)	675	BRCA2	not provided	397507717	RCV000044405;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900251	32900251	NM_000059.3:c.439C>T	NP_000050.2:p.Gln147Ter	NC_000013.10:g.32900251C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.449A>G (p.His150Arg)	675	BRCA2	Uncertain significance	397507722	RCV000044425; RCV000130685;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900261	32900261	NM_000059.3:c.449A>G	NP_000050.2:p.His150Arg	NC_000013.10:g.32900261A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.462_463delAA (p.Asp156Terfs)	675	BRCA2	Pathogenic	80359459	RCV000044454; RCV000077331; RCV000219738;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32900274	32900275	NM_000059.3:c.462_463delAA	NP_000050.2:p.Asp156Terfs	NC_000013.10:g.32900274_32900275delAA	Breast Cancer Information Core (BRCA2):690&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.464_468delGAGAT (p.Arg155Lysfs)	675	BRCA2	not provided	397507735	RCV000044461;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900276	32900280	NM_000059.3:c.464_468delGAGAT	NP_000050.2:p.Arg155Lysfs	NC_000013.10:g.32900276_32900280delGAGAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.466_467insT (p.Asp156Valfs)	675	BRCA2	not provided	397507736	RCV000044466;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900278	32900279	NM_000059.3:c.466_467insT	NP_000050.2:p.Asp156Valfs	NC_000013.10:g.32900278_32900279insT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.469_470delAA (p.Lys157Valfs)	675	BRCA2	Pathogenic	397507739	RCV000044472; RCV000077335;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900281	32900282	NM_000059.3:c.469_470delAA	NP_000050.2:p.Lys157Valfs	NC_000013.10:g.32900281_32900282delAA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.470_474delAGTCA (p.Lys157Serfs)	675	BRCA2	Pathogenic	80359463	RCV000044475; RCV000077336; RCV000131856;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900282	32900286	NM_000059.3:c.470_474delAGTCA	NP_000050.2:p.Lys157Serfs	NC_000013.10:g.32900282_32900286delAGTCA	Breast Cancer Information Core (BRCA2):698&base_change=del AGTCA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.473C>T (p.Ser158Leu)	675	BRCA2	Uncertain significance	80358701	RCV000044480; RCV000083109; RCV000219972;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32900285	32900285	NM_000059.3:c.473C>T	NP_000050.2:p.Ser158Leu	NC_000013.10:g.32900285C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.475G>A (p.Val159Met)	675	BRCA2	Likely pathogenic;Pathogenic	80358702	RCV000044486; RCV000113649; RCV000218417;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32900287	32900287	NM_000059.3:c.475G>A	NP_000050.2:p.Val159Met	NC_000013.10:g.32900287G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.475+1G>A	675	BRCA2	Pathogenic	81002797	RCV000044482; RCV000113644;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900288	32900288	NM_000059.3:c.475+1G>A		NC_000013.10:g.32900288G>A,NC_000013.10:g.32900288G>T	Breast Cancer Information Core (BRCA2):703+1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.475+3A>G	675	BRCA2	not provided	81002795	RCV000044484;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900290	32900290	NM_000059.3:c.475+3A>G		NC_000013.10:g.32900290A>G,NC_000013.10:g.32900290A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.475+4delT	675	BRCA2	Likely pathogenic;Uncertain significance	276174848	RCV000044485; RCV000031502;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900291	32900291	NM_000059.3:c.475+4delT		NC_000013.10:g.32900291delT	Breast Cancer Information Core (BRCA2):703+4&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.476-9delT	675	BRCA2	Uncertain significance	276174850	RCV000044489; RCV000113651;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900370	32900370	NM_000059.3:c.476-9delT		NC_000013.10:g.32900370delT	Breast Cancer Information Core (BRCA2):704-9&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.476-2A>G	675	BRCA2	Pathogenic	81002853	RCV000044488; RCV000031504; RCV000131855;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900377	32900377	NM_000059.3:c.476-2A>G		NC_000013.10:g.32900377A>G	Breast Cancer Information Core (BRCA2):704-2&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.476-1G>A	675	BRCA2	Pathogenic	397507340	RCV000044487; RCV000031503;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900378	32900378	NM_000059.3:c.476-1G>A		NC_000013.10:g.32900378G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.483T>G (p.Cys161Trp)	675	BRCA2	not provided	397507745	RCV000044502;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900386	32900386	NM_000059.3:c.483T>G	NP_000050.2:p.Cys161Trp	NC_000013.10:g.32900386T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.488_489delGT (p.Ser163Ilefs)	675	BRCA2	not provided	397507747	RCV000044513;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900391	32900392	NM_000059.3:c.488_489delGT	NP_000050.2:p.Ser163Ilefs	NC_000013.10:g.32900391_32900392delGT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.491T>A (p.Leu164Ter)	675	BRCA2	Pathogenic	80358717	RCV000044521; RCV000113680;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900394	32900394	NM_000059.3:c.491T>A	NP_000050.2:p.Leu164Ter	NC_000013.10:g.32900394T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358730	RCV000074532; RCV000031522; RCV000044547; RCV000129126;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32900409	32900409	NM_000059.3:c.506A>G	NP_000050.2:p.Lys169Arg	NC_000013.10:g.32900409A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.516G>A (p.Lys172=)	675	BRCA2	Uncertain significance	80359790	RCV000044583; RCV000113726;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900419	32900419	NM_000059.3:c.516G>A	NP_000050.2:p.Lys172=	NC_000013.10:g.32900419G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.516_516+1insC	675	BRCA2	not provided	397507766	RCV000044584;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900419	32900420	NM_000059.3:c.516_516+1insC		NC_000013.10:g.32900419_32900420insC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.516+1G>A	675	BRCA2	not provided	397507762	RCV000044574;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900420	32900420	NM_000059.3:c.516+1G>A		NC_000013.10:g.32900420G>A,NC_000013.10:g.32900420G>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.516+1G>C	675	BRCA2	not provided	397507762	RCV000044575;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900420	32900420	NM_000059.3:c.516+1G>C		NC_000013.10:g.32900420G>A,NC_000013.10:g.32900420G>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.516+1dupG	675	BRCA2	not provided	397507763	RCV000044576;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900420	32900420	NM_000059.3:c.516+1dupG		NC_000013.10:g.32900420dupG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.516+2T>A	675	BRCA2	not provided	397507764	RCV000044577;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900421	32900421	NM_000059.3:c.516+2T>A		NC_000013.10:g.32900421T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.516+7A>G	675	BRCA2	Uncertain significance	81002876	RCV000044578; RCV000113724;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900426	32900426	NM_000059.3:c.516+7A>G		NC_000013.10:g.32900426A>G	Breast Cancer Information Core (BRCA2):744+7&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.516+10C>T	675	BRCA2	Uncertain significance	81002896	RCV000044571; RCV000113721;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900429	32900429	NM_000059.3:c.516+10C>T		NC_000013.10:g.32900429C>T	Breast Cancer Information Core (BRCA2):744+10&base_change=C to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.516+18T>G	675	BRCA2	Uncertain significance	81002834	RCV000044573; RCV000113723;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900437	32900437	NM_000059.3:c.516+18T>G		NC_000013.10:g.32900437T>C,NC_000013.10:g.32900437T>G	Breast Cancer Information Core (BRCA2):744+18&base_change=T to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.517-16T>C	675	BRCA2	Uncertain significance	81002839	RCV000044586; RCV000113728;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900620	32900620	NM_000059.3:c.517-16T>C		NC_000013.10:g.32900620T>C	Breast Cancer Information Core (BRCA2):745-16&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.517-11T>C	675	BRCA2	Uncertain significance	81002828	RCV000044585; RCV000113727;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900625	32900625	NM_000059.3:c.517-11T>C		NC_000013.10:g.32900625T>C	Breast Cancer Information Core (BRCA2):745-11&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.517-4C>G	675	BRCA2	Benign;Uncertain significance	81002804	RCV000044590; RCV000113731; RCV000212206; RCV000131488;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32900632	32900632	NM_000059.3:c.517-4C>G		NC_000013.10:g.32900632C>G	Breast Cancer Information Core (BRCA2):745-4&base_change=C to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.517-2A>G	675	BRCA2	Likely pathogenic;Pathogenic	81002858	RCV000044589; RCV000077347; RCV000221055; RCV000162897;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32900634	32900634	NM_000059.3:c.517-2A>G		NC_000013.10:g.32900634A>C,NC_000013.10:g.32900634A>G	Breast Cancer Information Core (BRCA2):745-2&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.517-1G>A	675	BRCA2	Pathogenic	81002849	RCV000044588; RCV000113730; RCV000131857;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900635	32900635	NM_000059.3:c.517-1G>A		NC_000013.10:g.32900635G>A	Breast Cancer Information Core (BRCA2):745-1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.517G>T (p.Gly173Cys)	675	BRCA2	Uncertain significance	397507768	RCV000044593; RCV000220016;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32900636	32900636	NM_000059.3:c.517G>T	NP_000050.2:p.Gly173Cys	NC_000013.10:g.32900636G>C,NC_000013.10:g.32900636G>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.518delG (p.Gly173Valfs)	675	BRCA2	Pathogenic	80359492	RCV000044599; RCV000031530; RCV000222906;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32900637	32900637	NM_000059.3:c.518delG	NP_000050.2:p.Gly173Valfs	NC_000013.10:g.32900637delG	Breast Cancer Information Core (BRCA2):746&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.518G>T (p.Gly173Val)	675	BRCA2	Uncertain significance	28897702	RCV000044598; RCV000113738; RCV000213680;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32900637	32900637	NM_000059.3:c.518G>T	NP_000050.2:p.Gly173Val	NC_000013.10:g.32900637G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.538_539delAT (p.Ile180Phefs)	675	BRCA2	Pathogenic	80359510	RCV000044647; RCV000113760;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900657	32900658	NM_000059.3:c.538_539delAT	NP_000050.2:p.Ile180Phefs	NC_000013.10:g.32900657_32900658delAT	Breast Cancer Information Core (BRCA2):766&base_change=del AT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.538_539dupAT (p.Ser181Phefs)	675	BRCA2	Pathogenic	80359511	RCV000044648; RCV000143833;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900657	32900658	NM_000059.3:c.538_539dupAT	NP_000050.2:p.Ser181Phefs	NC_000013.10:g.32900657_32900658dupAT	Breast Cancer Information Core (BRCA2):767&base_change=ins AT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.539delT (p.Ser181Leufs)	675	BRCA2	Pathogenic	276174857	RCV000044651; RCV000113763;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900658	32900658	NM_000059.3:c.539delT	NP_000050.2:p.Ser181Leufs	NC_000013.10:g.32900658delT	Breast Cancer Information Core (BRCA2):767&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.549T>C (p.Ser183=)	675	BRCA2	Uncertain significance	80359792	RCV000044671; RCV000113775;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900668	32900668	NM_000059.3:c.549T>C	NP_000050.2:p.Ser183=	NC_000013.10:g.32900668T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.551T>C (p.Leu184Pro)	675	BRCA2	Likely benign;Uncertain significance	80358775	RCV000044676; RCV000031552; RCV000200973;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32900670	32900670	NM_000059.3:c.551T>C	NP_000050.2:p.Leu184Pro	NC_000013.10:g.32900670T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.559G>A (p.Glu187Lys)	675	BRCA2	Uncertain significance	80358780	RCV000044692; RCV000113802; RCV000212207; RCV000167470;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32900678	32900678	NM_000059.3:c.559G>A	NP_000050.2:p.Glu187Lys	NC_000013.10:g.32900678G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.572A>G (p.Asp191Gly)	675	BRCA2	not provided	397507798	RCV000044734;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900691	32900691	NM_000059.3:c.572A>G	NP_000050.2:p.Asp191Gly	NC_000013.10:g.32900691A>G,NC_000013.10:g.32900691A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.572A>T (p.Asp191Val)	675	BRCA2	Uncertain significance	397507798	RCV000044735; RCV000129294;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900691	32900691	NM_000059.3:c.572A>T	NP_000050.2:p.Asp191Val	NC_000013.10:g.32900691A>G,NC_000013.10:g.32900691A>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.572delAinsCT (p.Asp191Alafs)	675	BRCA2	not provided	397507799	RCV000044736;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900691	32900691	NM_000059.3:c.572delAinsCT	NP_000050.2:p.Asp191Alafs	NC_000013.10:g.32900691delAinsCT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.574_575delAT (p.Met192Valfs)	675	BRCA2	Pathogenic	80359533	RCV000044741; RCV000031574; RCV000131852;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900693	32900694	NM_000059.3:c.574_575delAT	NP_000050.2:p.Met192Valfs	NC_000013.10:g.32900693_32900694delAT	Breast Cancer Information Core (BRCA2):802&base_change=del AT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.574dupA (p.Met192Asnfs)	675	BRCA2	not provided	397507802	RCV000044742;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900693	32900693	NM_000059.3:c.574dupA	NP_000050.2:p.Met192Asnfs	NC_000013.10:g.32900693dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.575T>C (p.Met192Thr)	675	BRCA2	Likely benign;Uncertain significance	80358805	RCV000074544; RCV000083120; RCV000219992;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32900694	32900694	NM_000059.3:c.575T>C	NP_000050.2:p.Met192Thr	NC_000013.10:g.32900694T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.582G>A (p.Trp194Ter)	675	BRCA2	Pathogenic	80358810	RCV000044768; RCV000031581;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900701	32900701	NM_000059.3:c.582G>A	NP_000050.2:p.Trp194Ter	NC_000013.10:g.32900701G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.587G>A (p.Ser196Asn)	675	BRCA2	Uncertain significance	80358818	RCV000044782; RCV000077365;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900706	32900706	NM_000059.3:c.587G>A	NP_000050.2:p.Ser196Asn	NC_000013.10:g.32900706G>A,NC_000013.10:g.32900706G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.587G>T (p.Ser196Ile)	675	BRCA2	Uncertain significance	80358818	RCV000044783; RCV000113840; RCV000166163;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900706	32900706	NM_000059.3:c.587G>T	NP_000050.2:p.Ser196Ile	NC_000013.10:g.32900706G>A,NC_000013.10:g.32900706G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.595_599dupGCTAC (p.Pro201Leufs)	675	BRCA2	not provided	397507816	RCV000044804;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900714	32900718	NM_000059.3:c.595_599dupGCTAC	NP_000050.2:p.Pro201Leufs	NC_000013.10:g.32900714_32900718dupGCTAC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.602C>G (p.Pro201Arg)	675	BRCA2	not provided	397507822	RCV000044823;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900721	32900721	NM_000059.3:c.602C>G	NP_000050.2:p.Pro201Arg	NC_000013.10:g.32900721C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.610_613dupCTTA (p.Ser205Thrfs)	675	BRCA2	not provided	397507830	RCV000044847;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900729	32900732	NM_000059.3:c.610_613dupCTTA	NP_000050.2:p.Ser205Thrfs	NC_000013.10:g.32900729_32900732dupCTTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.610delC (p.Ser205Valfs)	675	BRCA2	Pathogenic	80359560	RCV000044848; RCV000113877; RCV000164920;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900729	32900729	NM_000059.3:c.610delC	NP_000050.2:p.Ser205Valfs	NC_000013.10:g.32900729delC	Breast Cancer Information Core (BRCA2):838&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.617C>G (p.Ser206Cys)	675	BRCA2	not provided	397507832	RCV000044862;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900736	32900736	NM_000059.3:c.617C>G	NP_000050.2:p.Ser206Cys	NC_000013.10:g.32900736C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.619A>G (p.Thr207Ala)	675	BRCA2	Uncertain significance	80358858	RCV000044864; RCV000113897; RCV000167341;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900738	32900738	NM_000059.3:c.619A>G	NP_000050.2:p.Thr207Ala	NC_000013.10:g.32900738A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.623T>G (p.Val208Gly)	675	BRCA2	Uncertain significance	80358865	RCV000044879; RCV000113900; RCV000166634;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900742	32900742	NM_000059.3:c.623T>G	NP_000050.2:p.Val208Gly	NC_000013.10:g.32900742T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.631G>C (p.Val211Leu)	675	BRCA2	Pathogenic	80358871	RCV000044903; RCV000031617;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32900750	32900750	NM_000059.3:c.631G>C	NP_000050.2:p.Val211Leu	NC_000013.10:g.32900750G>A,NC_000013.10:g.32900750G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.631G>A (p.Val211Ile)	675	BRCA2	Pathogenic	80358871	RCV000044902; RCV000113917; RCV000213157; RCV000214066;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	13	32900750	32900750	NM_000059.3:c.631G>A	NP_000050.2:p.Val211Ile	NC_000013.10:g.32900750G>A,NC_000013.10:g.32900750G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.631+2T>G	675	BRCA2	Pathogenic	81002899	RCV000044897; RCV000031615; RCV000009943; RCV000195357; RCV000129071;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C1838457,OMIM:605724,ORPHA:319462; MedGen:C2675520,OMIM:612555	13	32900752	32900752	NM_000059.3:c.631+2T>G		NC_000013.10:g.32900752T>C,NC_000013.10:g.32900752T>G	Breast Cancer Information Core (BRCA2):859+2&base_change=T to G,OMIM Allelic Variant:600185.0034	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C1838457 605724 Fanconi anemia, complementation group D1; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing synd
NM_000059.3(BRCA2):c.631+2T>C	675	BRCA2	not provided	81002899	RCV000044896;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900752	32900752	NM_000059.3:c.631+2T>C		NC_000013.10:g.32900752T>C,NC_000013.10:g.32900752T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.631+4A>G	675	BRCA2	not provided	397507841	RCV000044900;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32900754	32900754	NM_000059.3:c.631+4A>G		NC_000013.10:g.32900754A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.632-69T>C	675	BRCA2	Uncertain significance	61948377	RCV000044909; RCV000113920;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903511	32903511	NM_000059.3:c.632-69T>C		NC_000013.10:g.32903511T>C	Breast Cancer Information Core (BRCA2):860-69&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.632-18_632-17delTA	675	BRCA2	Uncertain significance	276174870	RCV000044904; RCV000113918;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903562	32903563	NM_000059.3:c.632-18_632-17delTA		NC_000013.10:g.32903562_32903563delTA	Breast Cancer Information Core (BRCA2):860-18&base_change=del TA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.632-9A>G	675	BRCA2	Uncertain significance	81002855	RCV000044910; RCV000077371;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903571	32903571	NM_000059.3:c.632-9A>G		NC_000013.10:g.32903571A>G	Breast Cancer Information Core (BRCA2):860-9&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.632-2A>G	675	BRCA2	Pathogenic	397507842	RCV000044908; RCV000220032;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	13	32903578	32903578	NM_000059.3:c.632-2A>G		NC_000013.10:g.32903578A>G	-	C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.632-1G>A	675	BRCA2	not provided	81002820	RCV000044905;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903579	32903579	NM_000059.3:c.632-1G>A		NC_000013.10:g.32903579G>A,NC_000013.10:g.32903579G>C,NC_000013.10:g.32903579G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.632-1G>C	675	BRCA2	Pathogenic	81002820	RCV000044906; RCV000113919;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903579	32903579	NM_000059.3:c.632-1G>C		NC_000013.10:g.32903579G>A,NC_000013.10:g.32903579G>C,NC_000013.10:g.32903579G>T	Breast Cancer Information Core (BRCA2):860-1&base_change=G to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.632-1G>T	675	BRCA2	not provided	81002820	RCV000044907;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903579	32903579	NM_000059.3:c.632-1G>T		NC_000013.10:g.32903579G>A,NC_000013.10:g.32903579G>C,NC_000013.10:g.32903579G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.632T>C (p.Val211Ala)	675	BRCA2	not provided	397507843	RCV000044916;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903580	32903580	NM_000059.3:c.632T>C	NP_000050.2:p.Val211Ala	NC_000013.10:g.32903580T>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.635_636delGA (p.Arg212Lysfs)	675	BRCA2	Pathogenic	80359575	RCV000044920; RCV000076962;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903583	32903584	NM_000059.3:c.635_636delGA	NP_000050.2:p.Arg212Lysfs	NC_000013.10:g.32903583_32903584delGA	Breast Cancer Information Core (BRCA2):862&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.644_646delAAG (p.Glu215del)	675	BRCA2	Uncertain significance	80359588	RCV000044959; RCV000113949; RCV000129988;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903592	32903594	NM_000059.3:c.644_646delAAG	NP_000050.2:p.Glu215del	NC_000013.10:g.32903592_32903594delAAG	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.652G>T (p.Glu218Ter)	675	BRCA2	Pathogenic	80358884	RCV000044976; RCV000077377;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903600	32903600	NM_000059.3:c.652G>T	NP_000050.2:p.Glu218Ter	NC_000013.10:g.32903600G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.662_663delTT (p.Phe221Serfs)	675	BRCA2	Pathogenic	80359609	RCV000044997; RCV000113987; RCV000214324;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32903610	32903611	NM_000059.3:c.662_663delTT	NP_000050.2:p.Phe221Serfs	NC_000013.10:g.32903610_32903611delTT	Breast Cancer Information Core (BRCA2):890&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.663T>G (p.Phe221Leu)	675	BRCA2	Pathogenic;Uncertain significance	80358891	RCV000045003; RCV000031640; RCV000132202;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903611	32903611	NM_000059.3:c.663T>G	NP_000050.2:p.Phe221Leu	NC_000013.10:g.32903611T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.664C>T (p.Pro222Ser)	675	BRCA2	not provided	397507873	RCV000045008;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903612	32903612	NM_000059.3:c.664C>T	NP_000050.2:p.Pro222Ser	NC_000013.10:g.32903612C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.670_673dupGATA (p.Thr225Argfs)	675	BRCA2	Pathogenic	730881601	RCV000160264;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903618	32903621	NM_000059.3:c.670_673dupGATA	NP_000050.2:p.Thr225Argfs	NC_000013.10:g.32903618_32903621dupGATA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.671A>T (p.Asp224Val)	675	BRCA2	not provided	397507878	RCV000045030;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903619	32903619	NM_000059.3:c.671A>T	NP_000050.2:p.Asp224Val	NC_000013.10:g.32903619A>C,NC_000013.10:g.32903619A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.673A>G (p.Thr225Ala)	675	BRCA2	Uncertain significance	80358897	RCV000045035; RCV000114001;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903621	32903621	NM_000059.3:c.673A>G	NP_000050.2:p.Thr225Ala	NC_000013.10:g.32903621A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.673_676delACTA (p.Thr225Leufs)	675	BRCA2	not provided	397507880	RCV000045036;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903621	32903624	NM_000059.3:c.673_676delACTA	NP_000050.2:p.Thr225Leufs	NC_000013.10:g.32903621_32903624delACTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.676A>G (p.Thr226Ala)	675	BRCA2	Uncertain significance	80358902	RCV000045045; RCV000083130; RCV000168538;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32903624	32903624	NM_000059.3:c.676A>G	NP_000050.2:p.Thr226Ala	NC_000013.10:g.32903624A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.680C>T (p.Ala227Val)	675	BRCA2	Uncertain significance	149565664	RCV000160026;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903628	32903628	NM_000059.3:c.680C>T	NP_000050.2:p.Ala227Val	NC_000013.10:g.32903628C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.681+4A>G	675	BRCA2	not provided	397507884	RCV000045057;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32903633	32903633	NM_000059.3:c.681+4A>G		NC_000013.10:g.32903633A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.681+9A>G	675	BRCA2	Uncertain significance	81002871	RCV000045059; RCV000077386;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903638	32903638	NM_000059.3:c.681+9A>G		NC_000013.10:g.32903638A>G	Breast Cancer Information Core (BRCA2):909+9&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.681+56C>G	675	BRCA2	Uncertain significance	2126042	RCV000045058; RCV000114010;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32903685	32903685	NM_000059.3:c.681+56C>G		NC_000013.10:g.32903685C>G,NC_000013.10:g.32903685C>T	Breast Cancer Information Core (BRCA2):909+56&base_change=C to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.682-13A>G	675	BRCA2	Uncertain significance	81002888	RCV000045062; RCV000031650;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905043	32905043	NM_000059.3:c.682-13A>G		NC_000013.10:g.32905043A>G	Breast Cancer Information Core (BRCA2):910-13&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.682-1G>C	675	BRCA2	Likely pathogenic;Pathogenic	81002831	RCV000045063; RCV000114011; RCV000215277;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32905055	32905055	NM_000059.3:c.682-1G>C		NC_000013.10:g.32905055G>C	Breast Cancer Information Core (BRCA2):910-1&base_change=G to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.688A>T (p.Lys230Ter)	675	BRCA2	Pathogenic	80358913	RCV000045084; RCV000031654; RCV000221860;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32905062	32905062	NM_000059.3:c.688A>T	NP_000050.2:p.Lys230Ter	NC_000013.10:g.32905062A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.700delT (p.Ser234Profs)	675	BRCA2	Pathogenic	80359630	RCV000045101; RCV000031661;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905074	32905074	NM_000059.3:c.700delT	NP_000050.2:p.Ser234Profs	NC_000013.10:g.32905074delT	Breast Cancer Information Core (BRCA2):924&base_change=del T,Breast Cancer Information Core (BRCA2):928&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.702delC (p.Asn235Ilefs)	675	BRCA2	not provided	397507892	RCV000045124;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32905076	32905076	NM_000059.3:c.702delC	NP_000050.2:p.Asn235Ilefs	NC_000013.10:g.32905076delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.707A>G (p.His236Arg)	675	BRCA2	Uncertain significance	80358938	RCV000045137; RCV000114055;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905081	32905081	NM_000059.3:c.707A>G	NP_000050.2:p.His236Arg	NC_000013.10:g.32905081A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.730G>A (p.Asp244Asn)	675	BRCA2	Uncertain significance	80358956	RCV000045185; RCV000114096; RCV000130306;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905104	32905104	NM_000059.3:c.730G>A	NP_000050.2:p.Asp244Asn	NC_000013.10:g.32905104G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.733A>T (p.Arg245Ter)	675	BRCA2	Pathogenic	80358959	RCV000045190; RCV000114103;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905107	32905107	NM_000059.3:c.733A>T	NP_000050.2:p.Arg245Ter	NC_000013.10:g.32905107A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.740T>C (p.Ile247Thr)	675	BRCA2	Uncertain significance	80358962	RCV000045201; RCV000114112; RCV000220097;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32905114	32905114	NM_000059.3:c.740T>C	NP_000050.2:p.Ile247Thr	NC_000013.10:g.32905114T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.741C>T (p.Ile247=)	675	BRCA2	Benign;Likely benign	276174892	RCV000045207; RCV000114115; RCV000219869;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32905115	32905115	NM_000059.3:c.741C>T	NP_000050.2:p.Ile247=	NC_000013.10:g.32905115C>T	Breast Cancer Information Core (BRCA2):969&base_change=C to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.743C>G (p.Ala248Gly)	675	BRCA2	Uncertain significance	276174893	RCV000045217; RCV000114119;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905117	32905117	NM_000059.3:c.743C>G	NP_000050.2:p.Ala248Gly	NC_000013.10:g.32905117C>G	Breast Cancer Information Core (BRCA2):971&base_change=C to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.748delG (p.Val250Terfs)	675	BRCA2	Pathogenic	80359654	RCV000045230; RCV000114130;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905122	32905122	NM_000059.3:c.748delG	NP_000050.2:p.Val250Terfs	NC_000013.10:g.32905122delG	Breast Cancer Information Core (BRCA2):976&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.755delA (p.Asp252Alafs)	675	BRCA2	Pathogenic	80359661	RCV000045246; RCV000114135;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905129	32905129	NM_000059.3:c.755delA	NP_000050.2:p.Asp252Alafs	NC_000013.10:g.32905129delA	Breast Cancer Information Core (BRCA2):983&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.756_757delCA (p.Asp252Glufs)	675	BRCA2	Pathogenic	80359662	RCV000045251; RCV000031688; RCV000131845;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905130	32905131	NM_000059.3:c.756_757delCA	NP_000050.2:p.Asp252Glufs	NC_000013.10:g.32905130_32905131delCA	Breast Cancer Information Core (BRCA2):984&base_change=del CA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.756_759delCAGT (p.Asp252Glufs)	675	BRCA2	Pathogenic	80359663	RCV000045252; RCV000114137;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905130	32905133	NM_000059.3:c.756_759delCAGT	NP_000050.2:p.Asp252Glufs	NC_000013.10:g.32905130_32905133delCAGT	Breast Cancer Information Core (BRCA2):984&base_change=del CAGT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.767_768delCA (p.Thr256Lysfs)	675	BRCA2	Pathogenic	80359670	RCV000045282; RCV000114159; RCV000131847;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905141	32905142	NM_000059.3:c.767_768delCA	NP_000050.2:p.Thr256Lysfs	NC_000013.10:g.32905141_32905142delCA	Breast Cancer Information Core (BRCA2):995&base_change=del CA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.767delC (p.Thr256Lysfs)	675	BRCA2	not provided	397507930	RCV000045283;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32905141	32905141	NM_000059.3:c.767delC	NP_000050.2:p.Thr256Lysfs	NC_000013.10:g.32905141delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs)	675	BRCA2	Pathogenic	80359671	RCV000056288; RCV000009913; RCV000195405; RCV000212208; RCV000131848;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32905145	32905149	NM_000059.3:c.771_775delTCAAA	NP_000050.2:p.Asn257Lysfs	NC_000013.10:g.32905145_32905149delTCAAA	Breast Cancer Information Core (BRCA2):995&base_change=del CAAAT,Breast Cancer Information Core (BRCA2):999&base_change=del TCAAA,OMIM Allelic Variant:	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.775A>T (p.Arg259Ter)	675	BRCA2	not provided	397507937	RCV000045304;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32905149	32905149	NM_000059.3:c.775A>T	NP_000050.2:p.Arg259Ter	NC_000013.10:g.32905149A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.775delA (p.Arg259Glufs)	675	BRCA2	not provided	75096777	RCV000045305;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32905149	32905149	NM_000059.3:c.775delA	NP_000050.2:p.Arg259Glufs	NC_000013.10:g.32905149delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.778_779delGA (p.Glu260Serfs)	675	BRCA2	Pathogenic	80359677	RCV000045311; RCV000031701; RCV000203632; RCV000131854;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32905152	32905153	NM_000059.3:c.778_779delGA	NP_000050.2:p.Glu260Serfs	NC_000013.10:g.32905152_32905153delGA	Breast Cancer Information Core (BRCA2):1003&base_change=del AG,Breast Cancer Information Core (BRCA2):1006&base_change=del GA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.787dupA (p.Ser263Lysfs)	675	BRCA2	Pathogenic	690016538	RCV000149511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32905161	32905161	NM_000059.3:c.787dupA	NP_000050.2:p.Ser263Lysfs	NC_000013.10:g.32905161dupA	VariO:0043	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.793+1G>A	675	BRCA2	Pathogenic	81002846	RCV000045345; RCV000112827;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905168	32905168	NM_000059.3:c.793+1G>A		NC_000013.10:g.32905168G>A,NC_000013.10:g.32905168G>T	Breast Cancer Information Core (BRCA2):1021+1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.793+1G>T	675	BRCA2	Pathogenic	81002846	RCV000045346; RCV000112828;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32905168	32905168	NM_000059.3:c.793+1G>T		NC_000013.10:g.32905168G>A,NC_000013.10:g.32905168G>T	Breast Cancer Information Core (BRCA2):1021+1&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.794-90A>G	675	BRCA2	Uncertain significance	81002791	RCV000045350; RCV000112831;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906319	32906319	NM_000059.3:c.794-90A>G		NC_000013.10:g.32906319A>G	Breast Cancer Information Core (BRCA2):1022-90&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.800G>A (p.Gly267Glu)	675	BRCA2	Uncertain significance	80359036	RCV000045386; RCV000112833; RCV000168543; RCV000164234;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32906415	32906415	NM_000059.3:c.800G>A	NP_000050.2:p.Gly267Glu	NC_000013.10:g.32906415G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.809C>G (p.Ser270Ter)	675	BRCA2	Pathogenic	276174902	RCV000045422; RCV000112846;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906424	32906424	NM_000059.3:c.809C>G	NP_000050.2:p.Ser270Ter	NC_000013.10:g.32906424C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.818C>A (p.Ser273Ter)	675	BRCA2	Pathogenic	80359068	RCV000045447; RCV000219107;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32906433	32906433	NM_000059.3:c.818C>A	NP_000050.2:p.Ser273Ter	NC_000013.10:g.32906433C>A,NC_000013.10:g.32906433C>G	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.818C>G (p.Ser273Ter)	675	BRCA2	Pathogenic	80359068	RCV000045448; RCV000112854;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906433	32906433	NM_000059.3:c.818C>G	NP_000050.2:p.Ser273Ter	NC_000013.10:g.32906433C>A,NC_000013.10:g.32906433C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys)	675	BRCA2	Benign;Likely benign;Uncertain significance	28897705	RCV000045471; RCV000031735; RCV000203670; RCV000130334;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32906446	32906446	NM_000059.3:c.831T>G	NP_000050.2:p.Asn277Lys	NC_000013.10:g.32906446T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.838A>G (p.Lys280Glu)	675	BRCA2	Uncertain significance	80359085	RCV000045502; RCV000112857;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906453	32906453	NM_000059.3:c.838A>G	NP_000050.2:p.Lys280Glu	NC_000013.10:g.32906453A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.841G>A (p.Asp281Asn)	675	BRCA2	Likely benign;Uncertain significance	80359088	RCV000045512; RCV000077438; RCV000130406;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906456	32906456	NM_000059.3:c.841G>A	NP_000050.2:p.Asp281Asn	NC_000013.10:g.32906456G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.880G>T (p.Glu294Ter)	675	BRCA2	Likely pathogenic;Pathogenic	397508009	RCV000045632; RCV000077453;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906495	32906495	NM_000059.3:c.880G>T	NP_000050.2:p.Glu294Ter	NC_000013.10:g.32906495G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.887A>G (p.Tyr296Cys)	675	BRCA2	Likely benign;Uncertain significance	45457795	RCV000045647; RCV000031774; RCV000168545; RCV000129101;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32906502	32906502	NM_000059.3:c.887A>G	NP_000050.2:p.Tyr296Cys	NC_000013.10:g.32906502A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.891_899delAACAGTTGTinsGATACTTCAG (p.Thr298Ilefs)	675	BRCA2	Pathogenic	276174914	RCV000160265; RCV000112859; RCV000218535;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32906506	32906514	NM_000059.3:c.891_899delAACAGTTGTinsGATACTTCAG	NP_000050.2:p.Thr298Ilefs	NC_000013.10:g.32906506_32906514delAACAGTTGTinsGATACTTCAG	Breast Cancer Information Core (BRCA2):1119&base_change=del 9 ins GATACTTCAG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.897_898insC (p.Val300Argfs)	675	BRCA2	Pathogenic	80359735	RCV000045679; RCV000112860;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906512	32906513	NM_000059.3:c.897_898insC	NP_000050.2:p.Val300Argfs	NC_000013.10:g.32906512_32906513insC	Breast Cancer Information Core (BRCA2):1125&base_change=ins C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.901dupG (p.Asp301Glyfs)	675	BRCA2	Pathogenic	80359738	RCV000045691; RCV000112861;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906516	32906516	NM_000059.3:c.901dupG	NP_000050.2:p.Asp301Glyfs	NC_000013.10:g.32906516dupG	Breast Cancer Information Core (BRCA2):1128&base_change=ins G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.905C>G (p.Thr302Ser)	675	BRCA2	Uncertain significance	80359158	RCV000045700; RCV000112862;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906520	32906520	NM_000059.3:c.905C>G	NP_000050.2:p.Thr302Ser	NC_000013.10:g.32906520C>A,NC_000013.10:g.32906520C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.906delC (p.Ser303Leufs)	675	BRCA2	Pathogenic	397508033	RCV000045703; RCV000215368;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32906521	32906521	NM_000059.3:c.906delC	NP_000050.2:p.Ser303Leufs	NC_000013.10:g.32906521delC	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.913G>A (p.Glu305Lys)	675	BRCA2	Uncertain significance	80359169	RCV000045730; RCV000112863;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906528	32906528	NM_000059.3:c.913G>A	NP_000050.2:p.Glu305Lys	NC_000013.10:g.32906528G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.918dupT (p.Ser307Terfs)	675	BRCA2	not provided	397508039	RCV000045741;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906533	32906533	NM_000059.3:c.918dupT	NP_000050.2:p.Ser307Terfs	NC_000013.10:g.32906533dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.927A>G (p.Ser309=)	675	BRCA2	Likely benign;Uncertain significance	80359806	RCV000045778; RCV000112864; RCV000163993;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906542	32906542	NM_000059.3:c.927A>G	NP_000050.2:p.Ser309=	NC_000013.10:g.32906542A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.930_931delAT (p.Cys311Phefs)	675	BRCA2	Pathogenic	80359755	RCV000045790; RCV000112865; RCV000131853;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906545	32906546	NM_000059.3:c.930_931delAT	NP_000050.2:p.Cys311Phefs	NC_000013.10:g.32906545_32906546delAT	Breast Cancer Information Core (BRCA2):1158&base_change=del AT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.952A>T (p.Lys318Ter)	675	BRCA2	not provided	397508060	RCV000045849;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906567	32906567	NM_000059.3:c.952A>T	NP_000050.2:p.Lys318Ter	NC_000013.10:g.32906567A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.961C>T (p.Gln321Ter)	675	BRCA2	Pathogenic	80359234	RCV000045869; RCV000112867; RCV000217571;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32906576	32906576	NM_000059.3:c.961C>T	NP_000050.2:p.Gln321Ter	NC_000013.10:g.32906576C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg)	675	BRCA2	Benign	28897706	RCV000123941; RCV000077475; RCV000045896; RCV000120308; RCV000162581; RCV000148427;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221572	13	32906593	32906593	NM_000059.3:c.978C>A	NP_000050.2:p.Ser326Arg	NC_000013.10:g.32906593C>A	-	CN221572 Breast cancer; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.979A>G (p.Lys327Glu)	675	BRCA2	Uncertain significance	80359242	RCV000045897; RCV000112869;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906594	32906594	NM_000059.3:c.979A>G	NP_000050.2:p.Lys327Glu	NC_000013.10:g.32906594A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.993_994delAA (p.Lys331Asnfs)	675	BRCA2	Pathogenic	80359777	RCV000045921; RCV000112871;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906608	32906609	NM_000059.3:c.993_994delAA	NP_000050.2:p.Lys331Asnfs	NC_000013.10:g.32906608_32906609delAA	Breast Cancer Information Core (BRCA2):1221&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.993_994dupAA (p.Ile332Lysfs)	675	BRCA2	not provided	397508066	RCV000045922;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906608	32906609	NM_000059.3:c.993_994dupAA	NP_000050.2:p.Ile332Lysfs	NC_000013.10:g.32906608_32906609dupAA,NC_000013.10:g.32906609dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.994delA (p.Ile332Phefs)	675	BRCA2	Pathogenic	80359778	RCV000045923; RCV000112872;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906609	32906609	NM_000059.3:c.994delA	NP_000050.2:p.Ile332Phefs	NC_000013.10:g.32906609delA	Breast Cancer Information Core (BRCA2):1222&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.994dupA (p.Ile332Asnfs)	675	BRCA2	not provided	397508066	RCV000045924;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906609	32906609	NM_000059.3:c.994dupA	NP_000050.2:p.Ile332Asnfs	NC_000013.10:g.32906608_32906609dupAA,NC_000013.10:g.32906609dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1029delA (p.Lys343Asnfs)	675	BRCA2	Pathogenic	80359260	RCV000043732; RCV000031305; RCV000218354; RCV000165362;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32906644	32906644	NM_000059.3:c.1029delA	NP_000050.2:p.Lys343Asnfs	NC_000013.10:g.32906644delA	Breast Cancer Information Core (BRCA2):1257&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.1033A>G (p.Lys345Glu)	675	BRCA2	Uncertain significance	80358406	RCV000043733; RCV000112877;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906648	32906648	NM_000059.3:c.1033A>G	NP_000050.2:p.Lys345Glu	NC_000013.10:g.32906648A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1082delA (p.Asn361Metfs)	675	BRCA2	not provided	397507569	RCV000043735;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906697	32906697	NM_000059.3:c.1082delA	NP_000050.2:p.Asn361Metfs	NC_000013.10:g.32906697delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1097dupT (p.Leu366Phefs)	675	BRCA2	not provided	397507570	RCV000043736;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906712	32906712	NM_000059.3:c.1097dupT	NP_000050.2:p.Leu366Phefs	NC_000013.10:g.32906712dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1103C>A (p.Ser368Ter)	675	BRCA2	Pathogenic	80358407	RCV000043738; RCV000112879; RCV000222511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32906718	32906718	NM_000059.3:c.1103C>A	NP_000050.2:p.Ser368Ter	NC_000013.10:g.32906718C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1117C>T (p.Gln373Ter)	675	BRCA2	not provided	397507572	RCV000043739;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906732	32906732	NM_000059.3:c.1117C>T	NP_000050.2:p.Gln373Ter	NC_000013.10:g.32906732C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser)	675	BRCA2	Benign	80358408	RCV000043740; RCV000083085; RCV000195325; RCV000173635; RCV000162998;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32906738	32906738	NM_000059.3:c.1123C>T	NP_000050.2:p.Pro375Ser	NC_000013.10:g.32906738C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1128delT (p.Phe376Leufs)	675	BRCA2	Pathogenic	80359263	RCV000043743; RCV000112883;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906743	32906743	NM_000059.3:c.1128delT	NP_000050.2:p.Phe376Leufs	NC_000013.10:g.32906743delT	Breast Cancer Information Core (BRCA2):1356&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1147delA (p.Ile383Serfs)	675	BRCA2	Pathogenic	80359265	RCV000043745; RCV000112884;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906762	32906762	NM_000059.3:c.1147delA	NP_000050.2:p.Ile383Serfs	NC_000013.10:g.32906762delA	Breast Cancer Information Core (BRCA2):1375&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1149C>A (p.Ile383=)	675	BRCA2	Uncertain significance	80359780	RCV000043746; RCV000112885;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906764	32906764	NM_000059.3:c.1149C>A	NP_000050.2:p.Ile383=	NC_000013.10:g.32906764C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1153A>T (p.Lys385Ter)	675	BRCA2	Pathogenic	80358411	RCV000043748; RCV000112887;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906768	32906768	NM_000059.3:c.1153A>T	NP_000050.2:p.Lys385Ter	NC_000013.10:g.32906768A>G,NC_000013.10:g.32906768A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1176_1180delCTGTG (p.Cys393Metfs)	675	BRCA2	not provided	397507574	RCV000043750;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906791	32906795	NM_000059.3:c.1176_1180delCTGTG	NP_000050.2:p.Cys393Metfs	NC_000013.10:g.32906791_32906795delCTGTG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1180G>T (p.Glu394Ter)	675	BRCA2	not provided	397507575	RCV000043751;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906795	32906795	NM_000059.3:c.1180G>T	NP_000050.2:p.Glu394Ter	NC_000013.10:g.32906795G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1183T>G (p.Trp395Gly)	675	BRCA2	Uncertain significance	80358412	RCV000043753; RCV000112888;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906798	32906798	NM_000059.3:c.1183T>G	NP_000050.2:p.Trp395Gly	NC_000013.10:g.32906798T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1188T>G (p.Ser396=)	675	BRCA2	Uncertain significance	80359781	RCV000043754; RCV000112889;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906803	32906803	NM_000059.3:c.1188T>G	NP_000050.2:p.Ser396=	NC_000013.10:g.32906803T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1190_1191insTTAG (p.Gln397Hisfs)	675	BRCA2	Pathogenic	80359266	RCV000160266; RCV000112890;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906805	32906806	NM_000059.3:c.1190_1191insTTAG	NP_000050.2:p.Gln397Hisfs	NC_000013.10:g.32906805_32906806insTTAG	Breast Cancer Information Core (BRCA2):1418&base_change=ins TTAG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1202C>G (p.Ser401Ter)	675	BRCA2	Pathogenic	80358413	RCV000043756; RCV000112891;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906817	32906817	NM_000059.3:c.1202C>G	NP_000050.2:p.Ser401Ter	NC_000013.10:g.32906817C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1211A>T (p.Asn404Ile)	675	BRCA2	Uncertain significance	80358414	RCV000043757; RCV000112892;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906826	32906826	NM_000059.3:c.1211A>T	NP_000050.2:p.Asn404Ile	NC_000013.10:g.32906826A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1218C>G (p.Ala406=)	675	BRCA2	Benign;Likely benign	276174807	RCV000043758; RCV000112893; RCV000162903;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906833	32906833	NM_000059.3:c.1218C>G	NP_000050.2:p.Ala406=	NC_000013.10:g.32906833C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1219delC (p.Gln407Argfs)	675	BRCA2	Pathogenic	80359267	RCV000043759; RCV000112894; RCV000166980;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906834	32906834	NM_000059.3:c.1219delC	NP_000050.2:p.Gln407Argfs	NC_000013.10:g.32906834delC	Breast Cancer Information Core (BRCA2):1447&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1225delG (p.Glu409Argfs)	675	BRCA2	Pathogenic	80359268	RCV000043762; RCV000112896;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906840	32906840	NM_000059.3:c.1225delG	NP_000050.2:p.Glu409Argfs	NC_000013.10:g.32906840delG	Breast Cancer Information Core (BRCA2):1453&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1233dupA (p.Pro412Thrfs)	675	BRCA2	Pathogenic	80359270	RCV000043763; RCV000112898;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906848	32906848	NM_000059.3:c.1233dupA	NP_000050.2:p.Pro412Thrfs	NC_000013.10:g.32906848dupA	Breast Cancer Information Core (BRCA2):1461&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1238delT (p.Leu413Hisfs)	675	BRCA2	Pathogenic	80359271	RCV000043764; RCV000031312; RCV000131980;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906853	32906853	NM_000059.3:c.1238delT	NP_000050.2:p.Leu413Hisfs	NC_000013.10:g.32906853delT	Breast Cancer Information Core (BRCA2):1466&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1241T>A (p.Leu414Ter)	675	BRCA2	not provided	397507576	RCV000043765;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906856	32906856	NM_000059.3:c.1241T>A	NP_000050.2:p.Leu414Ter	NC_000013.10:g.32906856T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358418	RCV000043767; RCV000077253; RCV000212209; RCV000129196;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32906862	32906862	NM_000059.3:c.1247T>G	NP_000050.2:p.Ile416Ser	NC_000013.10:g.32906862T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1261C>T (p.Gln421Ter)	675	BRCA2	Pathogenic	80358419	RCV000043769; RCV000112900; RCV000131850;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906876	32906876	NM_000059.3:c.1261C>T	NP_000050.2:p.Gln421Ter	NC_000013.10:g.32906876C>G,NC_000013.10:g.32906876C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1278delA (p.Asp427Thrfs)	675	BRCA2	Pathogenic	80359274	RCV000043772; RCV000112902; RCV000222925;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32906893	32906893	NM_000059.3:c.1278delA	NP_000050.2:p.Asp427Thrfs	NC_000013.10:g.32906893delA	Breast Cancer Information Core (BRCA2):1506&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1287A>G (p.Leu429=)	675	BRCA2	Likely benign;Uncertain significance	80359782	RCV000043773; RCV000112903; RCV000213268;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32906902	32906902	NM_000059.3:c.1287A>G	NP_000050.2:p.Leu429=	NC_000013.10:g.32906902A>G	Breast Cancer Information Core (BRCA2):1515&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1300_1303delAAAA (p.Lys434Glufs)	675	BRCA2	not provided	397507577	RCV000043776;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906915	32906918	NM_000059.3:c.1300_1303delAAAA	NP_000050.2:p.Lys434Glufs	NC_000013.10:g.32906915_32906918delAAAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1307delA (p.Lys436Argfs)	675	BRCA2	Pathogenic	80359278	RCV000043777; RCV000112905;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906922	32906922	NM_000059.3:c.1307delA	NP_000050.2:p.Lys436Argfs	NC_000013.10:g.32906922delA	Breast Cancer Information Core (BRCA2):1535&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1310_1311delAA (p.Lys437Argfs)	675	BRCA2	not provided	397507578	RCV000043778;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906925	32906926	NM_000059.3:c.1310_1311delAA	NP_000050.2:p.Lys437Argfs	NC_000013.10:g.32906925_32906926delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1321dupA (p.Thr441Asnfs)	675	BRCA2	Pathogenic	80359281	RCV000049218; RCV000112908;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906936	32906936	NM_000059.3:c.1321dupA	NP_000050.2:p.Thr441Asnfs	NC_000013.10:g.32906936dupA	Breast Cancer Information Core (BRCA2):1549&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1325C>T (p.Ser442Leu)	675	BRCA2	Uncertain significance	80358421	RCV000043781; RCV000112909;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906940	32906940	NM_000059.3:c.1325C>T	NP_000050.2:p.Ser442Leu	NC_000013.10:g.32906940C>A,NC_000013.10:g.32906940C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1325C>A (p.Ser442Ter)	675	BRCA2	not provided	80358421	RCV000049219;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906940	32906940	NM_000059.3:c.1325C>A	NP_000050.2:p.Ser442Ter	NC_000013.10:g.32906940C>A,NC_000013.10:g.32906940C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1327G>T (p.Glu443Ter)	675	BRCA2	Pathogenic	397507579	RCV000043782; RCV000169567;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906942	32906942	NM_000059.3:c.1327G>T	NP_000050.2:p.Glu443Ter	NC_000013.10:g.32906942G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1333T>G (p.Ser445Ala)	675	BRCA2	Uncertain significance	730881509	RCV000160036;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906948	32906948	NM_000059.3:c.1333T>G	NP_000050.2:p.Ser445Ala	NC_000013.10:g.32906948T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1335_1338delTTTG (p.Leu446Hisfs)	675	BRCA2	not provided	397507580	RCV000043783;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906950	32906953	NM_000059.3:c.1335_1338delTTTG	NP_000050.2:p.Leu446Hisfs	NC_000013.10:g.32906950_32906953delTTTG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1343G>A (p.Arg448His)	675	BRCA2	Uncertain significance	80358423	RCV000043786; RCV000112910; RCV000130010;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906958	32906958	NM_000059.3:c.1343G>A	NP_000050.2:p.Arg448His	NC_000013.10:g.32906958G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1354C>A (p.Leu452Ile)	675	BRCA2	Benign	80358424	RCV000043787; RCV000112911;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906969	32906969	NM_000059.3:c.1354C>A	NP_000050.2:p.Leu452Ile	NC_000013.10:g.32906969C>A,NC_000013.10:g.32906969C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=)	675	BRCA2	Benign;Likely benign	55919657	RCV000043788; RCV000112912; RCV000167811; RCV000162634;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32906977	32906977	NM_000059.3:c.1362A>G	NP_000050.2:p.Lys454=	NC_000013.10:g.32906977A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1362delA (p.Lys454Asnfs)	675	BRCA2	not provided	397507582	RCV000043789;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906977	32906977	NM_000059.3:c.1362delA	NP_000050.2:p.Lys454Asnfs	NC_000013.10:g.32906977delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1368_1369delGA (p.Lys457Alafs)	675	BRCA2	not provided	397507583	RCV000043790;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32906983	32906984	NM_000059.3:c.1368_1369delGA	NP_000050.2:p.Lys457Alafs	NC_000013.10:g.32906983_32906984delGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1375T>G (p.Leu459Val)	675	BRCA2	Uncertain significance	80358426	RCV000043792; RCV000112915;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32906990	32906990	NM_000059.3:c.1375T>G	NP_000050.2:p.Leu459Val	NC_000013.10:g.32906990T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly)	675	BRCA2	Benign	56403624	RCV000043793; RCV000031319; RCV000195299; RCV000173630; RCV000162999;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907000	32907000	NM_000059.3:c.1385A>G	NP_000050.2:p.Glu462Gly	NC_000013.10:g.32907000A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1389_1390delAG (p.Val464Glyfs)	675	BRCA2	Pathogenic	80359283	RCV000160277; RCV000077255; RCV000214525; RCV000043794;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32907004	32907005	NM_000059.3:c.1389_1390delAG	NP_000050.2:p.Val464Glyfs	NC_000013.10:g.32907004_32907005delAG	Breast Cancer Information Core (BRCA2):1617&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1389delA (p.Val464Trpfs)	675	BRCA2	not provided	397507584	RCV000043795;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907004	32907004	NM_000059.3:c.1389delA	NP_000050.2:p.Val464Trpfs	NC_000013.10:g.32907004delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1392_1393insT (p.Val465Cysfs)	675	BRCA2	not provided	397507585	RCV000043796;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907007	32907008	NM_000059.3:c.1392_1393insT	NP_000050.2:p.Val465Cysfs	NC_000013.10:g.32907007_32907008insT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1395A>T (p.Val465=)	675	BRCA2	not provided	11571641	RCV000043798;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907010	32907010	NM_000059.3:c.1395A>T	NP_000050.2:p.Val465=	NC_000013.10:g.32907010A>C,NC_000013.10:g.32907010A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter)	675	BRCA2	Pathogenic	80358427	RCV000043799; RCV000077256; RCV000221316; RCV000131059;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32907014	32907014	NM_000059.3:c.1399A>T	NP_000050.2:p.Lys467Ter	NC_000013.10:g.32907014A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.1405_1406delGA (p.Asp469Terfs)	675	BRCA2	not provided	397507586	RCV000043800;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907020	32907021	NM_000059.3:c.1405_1406delGA	NP_000050.2:p.Asp469Terfs	NC_000013.10:g.32907020_32907021delGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1414C>T (p.Gln472Ter)	675	BRCA2	Pathogenic	80358429	RCV000043802; RCV000112920;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907029	32907029	NM_000059.3:c.1414C>T	NP_000050.2:p.Gln472Ter	NC_000013.10:g.32907029C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1418A>T (p.His473Leu)	675	BRCA2	Uncertain significance	80358430	RCV000043803; RCV000112921;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907033	32907033	NM_000059.3:c.1418A>T	NP_000050.2:p.His473Leu	NC_000013.10:g.32907033A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1423G>T (p.Glu475Ter)	675	BRCA2	not provided	397507587	RCV000043804;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907038	32907038	NM_000059.3:c.1423G>T	NP_000050.2:p.Glu475Ter	NC_000013.10:g.32907038G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1427C>G (p.Ser476Cys)	675	BRCA2	Uncertain significance	80358431	RCV000043805; RCV000031320; RCV000203653; RCV000132255;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32907042	32907042	NM_000059.3:c.1427C>G	NP_000050.2:p.Ser476Cys	NC_000013.10:g.32907042C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1444delC (p.Ala483Glnfs)	675	BRCA2	not provided	397507588	RCV000043806;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907059	32907059	NM_000059.3:c.1444delC	NP_000050.2:p.Ala483Glnfs	NC_000013.10:g.32907059delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1447G>A (p.Ala483Thr)	675	BRCA2	Uncertain significance	80358432	RCV000043807; RCV000112922;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907062	32907062	NM_000059.3:c.1447G>A	NP_000050.2:p.Ala483Thr	NC_000013.10:g.32907062G>A,NC_000013.10:g.32907062G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1447G>C (p.Ala483Pro)	675	BRCA2	Likely benign;Uncertain significance	80358432	RCV000043808; RCV000112923; RCV000132314;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907062	32907062	NM_000059.3:c.1447G>C	NP_000050.2:p.Ala483Pro	NC_000013.10:g.32907062G>A,NC_000013.10:g.32907062G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1449_1451delAGTinsTTAC (p.Val484Tyrfs)	675	BRCA2	not provided	397507589	RCV000043809;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907064	32907066	NM_000059.3:c.1449_1451delAGTinsTTAC	NP_000050.2:p.Val484Tyrfs	NC_000013.10:g.32907064_32907066delAGTinsTTAC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1456C>T (p.Gln486Ter)	675	BRCA2	Pathogenic	80358434	RCV000043810; RCV000112924; RCV000219957;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32907071	32907071	NM_000059.3:c.1456C>T	NP_000050.2:p.Gln486Ter	NC_000013.10:g.32907071C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu)	675	BRCA2	Benign;Likely benign;Uncertain significance	56390402	RCV000043812; RCV000031322; RCV000167837; RCV000131573;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32907075	32907075	NM_000059.3:c.1460C>A	NP_000050.2:p.Ala487Glu	NC_000013.10:g.32907075C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1463T>G (p.Ile488Arg)	675	BRCA2	Uncertain significance	80358436	RCV000043813; RCV000112925;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907078	32907078	NM_000059.3:c.1463T>G	NP_000050.2:p.Ile488Arg	NC_000013.10:g.32907078T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1483G>A (p.Ala495Thr)	675	BRCA2	Uncertain significance	80358437	RCV000043814; RCV000130135;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907098	32907098	NM_000059.3:c.1483G>A	NP_000050.2:p.Ala495Thr	NC_000013.10:g.32907098G>A,NC_000013.10:g.32907098G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1483G>C (p.Ala495Pro)	675	BRCA2	Uncertain significance	80358437	RCV000043815; RCV000112926;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907098	32907098	NM_000059.3:c.1483G>C	NP_000050.2:p.Ala495Pro	NC_000013.10:g.32907098G>A,NC_000013.10:g.32907098G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1496A>G (p.Gln499Arg)	675	BRCA2	not provided	397507590	RCV000043816;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907111	32907111	NM_000059.3:c.1496A>G	NP_000050.2:p.Gln499Arg	NC_000013.10:g.32907111A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1496_1497delAG (p.Gln499Argfs)	675	BRCA2	Pathogenic	80359285	RCV000043817; RCV000112927; RCV000162911;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907111	32907112	NM_000059.3:c.1496_1497delAG	NP_000050.2:p.Gln499Argfs	NC_000013.10:g.32907111_32907112delAG	Breast Cancer Information Core (BRCA2):1724&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1499delG (p.Gly500Valfs)	675	BRCA2	Pathogenic	397507591	RCV000043818; RCV000077258;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907114	32907114	NM_000059.3:c.1499delG	NP_000050.2:p.Gly500Valfs	NC_000013.10:g.32907114delG	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1511_1512delCT (p.Ser504Tyrfs)	675	BRCA2	Pathogenic	80359286	RCV000043819; RCV000112929;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907126	32907127	NM_000059.3:c.1511_1512delCT	NP_000050.2:p.Ser504Tyrfs	NC_000013.10:g.32907126_32907127delCT	Breast Cancer Information Core (BRCA2):1739&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1514delT (p.Ile505Asnfs)	675	BRCA2	not provided	397507592	RCV000043821;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907129	32907129	NM_000059.3:c.1514delT	NP_000050.2:p.Ile505Asnfs	NC_000013.10:g.32907129delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1528G>T (p.Glu510Ter)	675	BRCA2	Pathogenic	80358438	RCV000043823; RCV000112930;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907143	32907143	NM_000059.3:c.1528G>T	NP_000050.2:p.Glu510Ter	NC_000013.10:g.32907143G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1540dupG (p.Glu514Glyfs)	675	BRCA2	not provided	397507593	RCV000043824;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907155	32907155	NM_000059.3:c.1540dupG	NP_000050.2:p.Glu514Glyfs	NC_000013.10:g.32907155dupG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1547delT (p.Phe516Serfs)	675	BRCA2	Pathogenic	80359289	RCV000043825; RCV000112933;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907162	32907162	NM_000059.3:c.1547delT	NP_000050.2:p.Phe516Serfs	NC_000013.10:g.32907162delT	Breast Cancer Information Core (BRCA2):1775&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1550A>G (p.Asn517Ser)	675	BRCA2	Likely benign;Uncertain significance	80358439	RCV000043826; RCV000031326; RCV000212210; RCV000129057;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907165	32907165	NM_000059.3:c.1550A>G	NP_000050.2:p.Asn517Ser	NC_000013.10:g.32907165A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1552G>C (p.Ala518Pro)	675	BRCA2	Uncertain significance	80358440	RCV000043827; RCV000112934;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907167	32907167	NM_000059.3:c.1552G>C	NP_000050.2:p.Ala518Pro	NC_000013.10:g.32907167G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1558T>G (p.Phe520Val)	675	BRCA2	Uncertain significance	80358441	RCV000043828; RCV000112935;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907173	32907173	NM_000059.3:c.1558T>G	NP_000050.2:p.Phe520Val	NC_000013.10:g.32907173T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1564G>C (p.Gly522Arg)	675	BRCA2	Likely benign;Uncertain significance	80358442	RCV000043829; RCV000031327; RCV000034431; RCV000200975; RCV000165147;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32907179	32907179	NM_000059.3:c.1564G>C	NP_000050.2:p.Gly522Arg	NC_000013.10:g.32907179G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.1568A>T (p.His523Leu)	675	BRCA2	Uncertain significance	80358443	RCV000043830; RCV000112936;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907183	32907183	NM_000059.3:c.1568A>T	NP_000050.2:p.His523Leu	NC_000013.10:g.32907183A>G,NC_000013.10:g.32907183A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1572delG (p.Met524Ilefs)	675	BRCA2	not provided	397507594	RCV000043831;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907187	32907187	NM_000059.3:c.1572delG	NP_000050.2:p.Met524Ilefs	NC_000013.10:g.32907187delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1573A>T (p.Thr525Ser)	675	BRCA2	Uncertain significance	80358444	RCV000043832; RCV000112937;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907188	32907188	NM_000059.3:c.1573A>T	NP_000050.2:p.Thr525Ser	NC_000013.10:g.32907188A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1593dupA (p.Glu532Argfs)	675	BRCA2	Pathogenic	397507272	RCV000043834; RCV000031329;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907208	32907208	NM_000059.3:c.1593dupA	NP_000050.2:p.Glu532Argfs*3	NC_000013.10:g.32907208dupA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1594G>T (p.Glu532Ter)	675	BRCA2	not provided	138734772	RCV000043835;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907209	32907209	NM_000059.3:c.1594G>T	NP_000050.2:p.Glu532Ter	NC_000013.10:g.32907209G>A,NC_000013.10:g.32907209G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1595_1599delAAACT (p.Glu532Glyfs)	675	BRCA2	Pathogenic	80359291	RCV000043836; RCV000112938;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907210	32907214	NM_000059.3:c.1595_1599delAAACT	NP_000050.2:p.Glu532Glyfs	NC_000013.10:g.32907210_32907214delAAACT	Breast Cancer Information Core (BRCA2):1823&base_change=del AAACT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1596_1597delAA (p.Glu532Aspfs)	675	BRCA2	not provided	397507596	RCV000043837;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907211	32907212	NM_000059.3:c.1596_1597delAA	NP_000050.2:p.Glu532Aspfs	NC_000013.10:g.32907211_32907212delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1597delA (p.Thr533Leufs)	675	BRCA2	Pathogenic	80359292	RCV000043838; RCV000112939;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907212	32907212	NM_000059.3:c.1597delA	NP_000050.2:p.Thr533Leufs	NC_000013.10:g.32907212delA	Breast Cancer Information Core (BRCA2):1825&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1599T>C (p.Thr533=)	675	BRCA2	Uncertain significance	80359783	RCV000043839; RCV000112940;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907214	32907214	NM_000059.3:c.1599T>C	NP_000050.2:p.Thr533=	NC_000013.10:g.32907214T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1599_1600delTG (p.Glu534Serfs)	675	BRCA2	Pathogenic	80359293	RCV000043840; RCV000112941;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907214	32907215	NM_000059.3:c.1599_1600delTG	NP_000050.2:p.Glu534Serfs	NC_000013.10:g.32907214_32907215delTG	Breast Cancer Information Core (BRCA2):1827&base_change=del TG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1600G>A (p.Glu534Lys)	675	BRCA2	Uncertain significance	276174810	RCV000043841; RCV000031330; RCV000215004; RCV000131321;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907215	32907215	NM_000059.3:c.1600G>A	NP_000050.2:p.Glu534Lys	NC_000013.10:g.32907215G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1612_1613delAG (p.Ser538Trpfs)	675	BRCA2	not provided	397507597	RCV000043842;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907227	32907228	NM_000059.3:c.1612_1613delAG	NP_000050.2:p.Ser538Trpfs	NC_000013.10:g.32907227_32907228delAG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1617delA (p.Leu540Trpfs)	675	BRCA2	Pathogenic	80359294	RCV000043843; RCV000112943;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907232	32907232	NM_000059.3:c.1617delA	NP_000050.2:p.Leu540Trpfs	NC_000013.10:g.32907232delA	Breast Cancer Information Core (BRCA2):1845&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1625T>C (p.Ile542Thr)	675	BRCA2	Uncertain significance	397507273	RCV000074513; RCV000031331; RCV000222475;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32907240	32907240	NM_000059.3:c.1625T>C	NP_000050.2:p.Ile542Thr	NC_000013.10:g.32907240T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1627C>A (p.His543Asn)	675	BRCA2	Uncertain significance	80358446	RCV000043845; RCV000077259;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907242	32907242	NM_000059.3:c.1627C>A	NP_000050.2:p.His543Asn	NC_000013.10:g.32907242C>A,NC_000013.10:g.32907242C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1631C>T (p.Thr544Ile)	675	BRCA2	Likely benign;Uncertain significance	80358448	RCV000043847; RCV000083087; RCV000212211; RCV000130669;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907246	32907246	NM_000059.3:c.1631C>T	NP_000050.2:p.Thr544Ile	NC_000013.10:g.32907246C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1631_1632delCT (p.Thr544Serfs)	675	BRCA2	Pathogenic	80359295	RCV000043848; RCV000112945; RCV000213325;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32907246	32907247	NM_000059.3:c.1631_1632delCT	NP_000050.2:p.Thr544Serfs	NC_000013.10:g.32907246_32907247delCT	Breast Cancer Information Core (BRCA2):1859&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1636delT (p.Cys546Alafs)	675	BRCA2	not provided	397507598	RCV000043849;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907251	32907251	NM_000059.3:c.1636delT	NP_000050.2:p.Cys546Alafs	NC_000013.10:g.32907251delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1644G>A (p.Gln548=)	675	BRCA2	Benign;Likely benign	55986646	RCV000043851; RCV000112947; RCV000195300; RCV000162904;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32907259	32907259	NM_000059.3:c.1644G>A	NP_000050.2:p.Gln548=	NC_000013.10:g.32907259G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1646_1649delAGGA (p.Lys549Argfs)	675	BRCA2	not provided	397507599	RCV000043852;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907261	32907264	NM_000059.3:c.1646_1649delAGGA	NP_000050.2:p.Lys549Argfs	NC_000013.10:g.32907261_32907264delAGGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1647G>A (p.Lys549=)	675	BRCA2	Benign;Likely benign	276174812	RCV000043853; RCV000112949; RCV000218284;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32907262	32907262	NM_000059.3:c.1647G>A	NP_000050.2:p.Lys549=	NC_000013.10:g.32907262G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1654delT (p.Ser552Profs)	675	BRCA2	Pathogenic	80359297	RCV000043855; RCV000077260; RCV000130097;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907269	32907269	NM_000059.3:c.1654delT	NP_000050.2:p.Ser552Profs	NC_000013.10:g.32907269delT	Breast Cancer Information Core (BRCA2):1882&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp)	675	BRCA2	Benign	80358451	RCV000043856; RCV000077261; RCV000167777; RCV000168551; RCV000163000; RCV000148416;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0238033,SNOMED CT:372096000; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907277	32907277	NM_000059.3:c.1662T>G	NP_000050.2:p.Cys554Trp	NC_000013.10:g.32907277T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0238033 Carcinoma of male breast; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not sp
NM_000059.3(BRCA2):c.1670T>G (p.Leu557Ter)	675	BRCA2	Pathogenic	80358452	RCV000043857; RCV000112952; RCV000217402; RCV000212212;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	13	32907285	32907285	NM_000059.3:c.1670T>G	NP_000050.2:p.Leu557Ter	NC_000013.10:g.32907285T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1670_1683delTAATTGATAATGGA (p.Leu557Terfs)	675	BRCA2	not provided	397507600	RCV000043858;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907285	32907298	NM_000059.3:c.1670_1683delTAATTGATAATGGA	NP_000050.2:p.Leu557Terfs	NC_000013.10:g.32907285_32907298delTAATTGATAATGGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1672delA (p.Ile558Leufs)	675	BRCA2	not provided	397507601	RCV000043859;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907287	32907287	NM_000059.3:c.1672delA	NP_000050.2:p.Ile558Leufs	NC_000013.10:g.32907287delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1678A>G (p.Asn560Asp)	675	BRCA2	Uncertain significance	80358453	RCV000043860; RCV000112958;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907293	32907293	NM_000059.3:c.1678A>G	NP_000050.2:p.Asn560Asp	NC_000013.10:g.32907293A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1681G>T (p.Gly561Ter)	675	BRCA2	Pathogenic	80358455	RCV000043862; RCV000112959;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907296	32907296	NM_000059.3:c.1681G>T	NP_000050.2:p.Gly561Ter	NC_000013.10:g.32907296G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1689G>A (p.Trp563Ter)	675	BRCA2	Pathogenic	80358456	RCV000043863; RCV000112960;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907304	32907304	NM_000059.3:c.1689G>A	NP_000050.2:p.Trp563Ter	NC_000013.10:g.32907304G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1694C>T (p.Ala565Val)	675	BRCA2	Uncertain significance	55821741	RCV000160040; RCV000199884; RCV000173634;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:CN221809	13	32907309	32907309	NM_000059.3:c.1694C>T	NP_000050.2:p.Ala565Val	NC_000013.10:g.32907309C>T	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.1705delC (p.Gln569Argfs)	675	BRCA2	Pathogenic	80359300	RCV000043864; RCV000112961;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907320	32907320	NM_000059.3:c.1705delC	NP_000050.2:p.Gln569Argfs	NC_000013.10:g.32907320delC	Breast Cancer Information Core (BRCA2):1933&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1711_1715delTCTGT (p.Val572Phefs)	675	BRCA2	not provided	397507602	RCV000043866;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907326	32907330	NM_000059.3:c.1711_1715delTCTGT	NP_000050.2:p.Val572Phefs	NC_000013.10:g.32907326_32907330delTCTGT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro)	675	BRCA2	Benign	80358457	RCV000043869; RCV000031334; RCV000162597;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907359	32907359	NM_000059.3:c.1744A>C	NP_000050.2:p.Thr582Pro	NC_000013.10:g.32907359A>C,NC_000013.10:g.32907359A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1744A>G (p.Thr582Ala)	675	BRCA2	Benign;Uncertain significance	80358457	RCV000043870; RCV000112963; RCV000212213; RCV000130844;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907359	32907359	NM_000059.3:c.1744A>G	NP_000050.2:p.Thr582Ala	NC_000013.10:g.32907359A>C,NC_000013.10:g.32907359A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1748T>A (p.Leu583Ter)	675	BRCA2	Pathogenic	397507604	RCV000043871; RCV000165753;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907363	32907363	NM_000059.3:c.1748T>A	NP_000050.2:p.Leu583Ter	NC_000013.10:g.32907363T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1748delT (p.Leu583Terfs)	675	BRCA2	not provided	397507605	RCV000043872;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907363	32907363	NM_000059.3:c.1748delT	NP_000050.2:p.Leu583Terfs	NC_000013.10:g.32907363delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1754delA (p.Lys585Argfs)	675	BRCA2	Pathogenic	80359301	RCV000043873; RCV000077262; RCV000212214;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32907369	32907369	NM_000059.3:c.1754delA	NP_000050.2:p.Lys585Argfs	NC_000013.10:g.32907369delA	Breast Cancer Information Core (BRCA2):1982&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.1755_1759delGAAAA (p.Lys585Asnfs)	675	BRCA2	Pathogenic	80359302	RCV000074514; RCV000031335; RCV000212215; RCV000131055;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32907370	32907374	NM_000059.3:c.1755_1759delGAAAA	NP_000050.2:p.Lys585Asnfs	NC_000013.10:g.32907370_32907374delGAAAA	Breast Cancer Information Core (BRCA2):1983&base_change=del GAAAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.1763_1766delATAA (p.Asn588Serfs)	675	BRCA2	Pathogenic	80359303	RCV000074515; RCV000077264; RCV000043877; RCV000131054;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32907378	32907381	NM_000059.3:c.1763_1766delATAA	NP_000050.2:p.Asn588Serfs	NC_000013.10:g.32907378_32907381delATAA	Breast Cancer Information Core (BRCA2):1991&base_change=del ATAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1765_1766delAA (p.Lys589Valfs)	675	BRCA2	not provided	397507606	RCV000043878;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907380	32907381	NM_000059.3:c.1765_1766delAA	NP_000050.2:p.Lys589Valfs	NC_000013.10:g.32907380_32907381delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1769T>G (p.Phe590Cys)	675	BRCA2	Benign;Uncertain significance	80358459	RCV000043879; RCV000077265; RCV000130772;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907384	32907384	NM_000059.3:c.1769T>G	NP_000050.2:p.Phe590Cys	NC_000013.10:g.32907384T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1773_1776delTTAT (p.Ile591Metfs)	675	BRCA2	Pathogenic	80359304	RCV000160268; RCV000112966; RCV000213388; RCV000043880;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32907388	32907391	NM_000059.3:c.1773_1776delTTAT	NP_000050.2:p.Ile591Metfs	NC_000013.10:g.32907388_32907391delTTAT	Breast Cancer Information Core (BRCA2):2000&base_change=del TTTA,Breast Cancer Information Core (BRCA2):2001&base_change=del TTAT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1784A>G (p.His595Arg)	675	BRCA2	Uncertain significance	80358460	RCV000043881; RCV000112967;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907399	32907399	NM_000059.3:c.1784A>G	NP_000050.2:p.His595Arg	NC_000013.10:g.32907399A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=)	675	BRCA2	Benign	11571642	RCV000123947; RCV000112968; RCV000043883; RCV000173628; RCV000162709;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907403	32907403	NM_000059.3:c.1788T>C	NP_000050.2:p.Asp596=	NC_000013.10:g.32907403T>C	Breast Cancer Information Core (BRCA2):2016&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1789G>T (p.Glu597Ter)	675	BRCA2	Pathogenic	80358461	RCV000043884; RCV000112969;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907404	32907404	NM_000059.3:c.1789G>T	NP_000050.2:p.Glu597Ter	NC_000013.10:g.32907404G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala)	675	BRCA2	Benign;Likely benign;Uncertain significance	28897710	RCV000074516; RCV000112970; RCV000043885; RCV000034432; RCV000120304; RCV000128961; RCV000148412;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221572; MedGen:CN221809	13	32907407	32907407	NM_000059.3:c.1792A>G	NP_000050.2:p.Thr598Ala	NC_000013.10:g.32907407A>G	-	CN221572 Breast cancer; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN1
NM_000059.3(BRCA2):c.1793C>T (p.Thr598Ile)	675	BRCA2	Uncertain significance	80358462	RCV000043886; RCV000112971;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907408	32907408	NM_000059.3:c.1793C>T	NP_000050.2:p.Thr598Ile	NC_000013.10:g.32907408C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1797_1801delTTATA (p.Tyr600Argfs)	675	BRCA2	not provided	397507607	RCV000043888;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907412	32907416	NM_000059.3:c.1797_1801delTTATA	NP_000050.2:p.Tyr600Argfs	NC_000013.10:g.32907412_32907416delTTATA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1800T>G (p.Tyr600Ter)	675	BRCA2	Pathogenic	80358464	RCV000043892; RCV000077266; RCV000162912;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907415	32907415	NM_000059.3:c.1800T>G	NP_000050.2:p.Tyr600Ter	NC_000013.10:g.32907415T>A,NC_000013.10:g.32907415T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1804G>A (p.Gly602Arg)	675	BRCA2	Benign	80358466	RCV000043893; RCV000077267; RCV000195301; RCV000168552; RCV000162545;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907419	32907419	NM_000059.3:c.1804G>A	NP_000050.2:p.Gly602Arg	NC_000013.10:g.32907419G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1805delG (p.Gly602Glufs)	675	BRCA2	not provided	397507608	RCV000043894;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907420	32907420	NM_000059.3:c.1805delG	NP_000050.2:p.Gly602Glufs	NC_000013.10:g.32907420delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs)	675	BRCA2	Pathogenic	80359306	RCV000160269; RCV000031343; RCV000043897; RCV000131453;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32907428	32907428	-	-	NC_000013.10:g.32907428dupA	Breast Cancer Information Core (BRCA2):2034&base_change=ins A,Breast Cancer Information Core (BRCA2):2041&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1813delA (p.Ile605Tyrfs)	675	BRCA2	Pathogenic	80359307	RCV000043896; RCV000031344; RCV000203637; RCV000132177;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32907428	32907428	NM_000059.3:c.1813delA	NP_000050.2:p.Ile605Tyrfs	NC_000013.10:g.32907428delA	Breast Cancer Information Core (BRCA2):2034&base_change=del A,Breast Cancer Information Core (BRCA2):2041&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1813_1814insC (p.Ile605Thrfs)	675	BRCA2	not provided	80359308	RCV000043895;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907428	32907429	NM_000059.3:c.1813_1814insC	NP_000050.2:p.Ile605Thrfs	NC_000013.10:g.32907428_32907429insC,NC_000013.10:g.32907428dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1814T>C (p.Ile605Thr)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358468	RCV000160209; RCV000077667; RCV000165793;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907429	32907429	NM_000059.3:c.1814T>C	NP_000050.2:p.Ile605Thr	NC_000013.10:g.32907429T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1815dupA (p.Pro606Thrfs)	675	BRCA2	Pathogenic	80359310	RCV000043898; RCV000112980;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907430	32907430	NM_000059.3:c.1815dupA	NP_000050.2:p.Pro606Thrfs	NC_000013.10:g.32907430dupA	Breast Cancer Information Core (BRCA2):2042&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1817C>A (p.Pro606Gln)	675	BRCA2	Uncertain significance	80358469	RCV000043899; RCV000112981;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907432	32907432	NM_000059.3:c.1817C>A	NP_000050.2:p.Pro606Gln	NC_000013.10:g.32907432C>A,NC_000013.10:g.32907432C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1817C>T (p.Pro606Leu)	675	BRCA2	Uncertain significance	80358469	RCV000043900; RCV000077268; RCV000163125;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907432	32907432	NM_000059.3:c.1817C>T	NP_000050.2:p.Pro606Leu	NC_000013.10:g.32907432C>A,NC_000013.10:g.32907432C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1817_1819delCGAinsTTT (p.Pro606_Lys607delinsLeuTer)	675	BRCA2	Pathogenic	587779358	RCV000074518;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907432	32907434	NM_000059.3:c.1817_1819delCGAinsTTT	NP_000050.2:p.Pro606_Lys607delinsLeuTer	NC_000013.10:g.32907432_32907434delCGAinsTTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1820A>C (p.Lys607Thr)	675	BRCA2	Benign;Likely benign;Uncertain significance	55962656	RCV000043901; RCV000077269; RCV000163031;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907435	32907435	NM_000059.3:c.1820A>C	NP_000050.2:p.Lys607Thr	NC_000013.10:g.32907435A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1825C>G (p.Gln609Glu)	675	BRCA2	Uncertain significance	80358472	RCV000043902; RCV000112982; RCV000130263;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907440	32907440	NM_000059.3:c.1825C>G	NP_000050.2:p.Gln609Glu	NC_000013.10:g.32907440C>G,NC_000013.10:g.32907440C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1825C>T (p.Gln609Ter)	675	BRCA2	Pathogenic	80358472	RCV000043903; RCV000112983;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907440	32907440	NM_000059.3:c.1825C>T	NP_000050.2:p.Gln609Ter	NC_000013.10:g.32907440C>G,NC_000013.10:g.32907440C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1826A>G (p.Gln609Arg)	675	BRCA2	Uncertain significance	80358473	RCV000043904; RCV000083089; RCV000214063; RCV000164841;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32907441	32907441	NM_000059.3:c.1826A>G	NP_000050.2:p.Gln609Arg	NC_000013.10:g.32907441A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1831delT (p.Ser611Glnfs)	675	BRCA2	Pathogenic	80359311	RCV000043905; RCV000112984; RCV000218544;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32907446	32907446	NM_000059.3:c.1831delT	NP_000050.2:p.Ser611Glnfs	NC_000013.10:g.32907446delT	Breast Cancer Information Core (BRCA2):2059&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1832C>A (p.Ser611Ter)	675	BRCA2	Pathogenic	80358474	RCV000043906; RCV000031345; RCV000212216; RCV000131056;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32907447	32907447	NM_000059.3:c.1832C>A	NP_000050.2:p.Ser611Ter	NC_000013.10:g.32907447C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.1842dupT (p.Asn615Terfs)	675	BRCA2	Pathogenic	80359312	RCV000043907; RCV000112985;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907457	32907457	NM_000059.3:c.1842dupT	NP_000050.2:p.Asn615Terfs	NC_000013.10:g.32907457dupT	Breast Cancer Information Core (BRCA2):2070&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1851dupA (p.Ala618Serfs)	675	BRCA2	not provided	397507610	RCV000043908;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907466	32907466	NM_000059.3:c.1851dupA	NP_000050.2:p.Ala618Serfs	NC_000013.10:g.32907466dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1852G>C (p.Ala618Pro)	675	BRCA2	Uncertain significance	80358475	RCV000043909; RCV000112986;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907467	32907467	NM_000059.3:c.1852G>C	NP_000050.2:p.Ala618Pro	NC_000013.10:g.32907467G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1854delCinsAA (p.Gln619Thrfs)	675	BRCA2	Pathogenic	276174815	RCV000043910; RCV000077270;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907469	32907469	NM_000059.3:c.1854delCinsAA	NP_000050.2:p.Gln619Thrfs	NC_000013.10:g.32907469delCinsAA	Breast Cancer Information Core (BRCA2):2082&base_change=del C ins AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1855dupC (p.Gln619Profs)	675	BRCA2	not provided	397507611	RCV000043912;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907470	32907470	NM_000059.3:c.1855dupC	NP_000050.2:p.Gln619Profs	NC_000013.10:g.32907470dupC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1865C>T (p.Ala622Val)	675	BRCA2	Likely benign;Uncertain significance	80358477	RCV000043913; RCV000031348; RCV000129337;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907480	32907480	NM_000059.3:c.1865C>T	NP_000050.2:p.Ala622Val	NC_000013.10:g.32907480C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1874T>G (p.Phe625Cys)	675	BRCA2	Uncertain significance	587779359	RCV000074519;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907489	32907489	NM_000059.3:c.1874T>G	NP_000050.2:p.Phe625Cys	NC_000013.10:g.32907489T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1875T>A (p.Phe625Leu)	675	BRCA2	Uncertain significance	80358478	RCV000043914; RCV000112989; RCV000130677;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907490	32907490	NM_000059.3:c.1875T>A	NP_000050.2:p.Phe625Leu	NC_000013.10:g.32907490T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1881delA (p.Pro628Hisfs)	675	BRCA2	not provided	397507612	RCV000043915;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907496	32907496	NM_000059.3:c.1881delA	NP_000050.2:p.Pro628Hisfs	NC_000013.10:g.32907496delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1888dupA (p.Thr630Asnfs)	675	BRCA2	Pathogenic	80359314	RCV000043916; RCV000077671;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32907503	32907503	NM_000059.3:c.1888dupA	NP_000050.2:p.Thr630Asnfs	NC_000013.10:g.32907503dupA	Breast Cancer Information Core (BRCA2):2116&base_change=ins%20A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1889delC (p.Thr630Asnfs)	675	BRCA2	Pathogenic	80359315	RCV000043918; RCV000077271; RCV000221409;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32907504	32907504	NM_000059.3:c.1889delC	NP_000050.2:p.Thr630Asnfs	NC_000013.10:g.32907504delC	Breast Cancer Information Core (BRCA2):2117&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.1899_1900insTT (p.Ala634Leufs)	675	BRCA2	not provided	397507613	RCV000043919;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907514	32907515	NM_000059.3:c.1899_1900insTT	NP_000050.2:p.Ala634Leufs	NC_000013.10:g.32907514_32907515insTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1901delC (p.Ala634Valfs)	675	BRCA2	not provided	397507614	RCV000043920;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32907516	32907516	NM_000059.3:c.1901delC	NP_000050.2:p.Ala634Valfs	NC_000013.10:g.32907516delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1909+9_1909+10delGT	675	BRCA2	Benign;Likely benign;Uncertain significance	527732001	RCV000160212; RCV000205851; RCV000168553;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:CN169374	13	32907533	32907534	NM_000059.3:c.1909+9_1909+10delGT		NC_000013.10:g.32907533_32907534delGT	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.1910-17T>C	675	BRCA2	Uncertain significance	81002864	RCV000043922; RCV000112992;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910385	32910385	NM_000059.3:c.1910-17T>C		NC_000013.10:g.32910385T>C	Breast Cancer Information Core (BRCA2):2138-17&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1911T>G (p.Gly637=)	675	BRCA2	Uncertain significance	11571652	RCV000043923; RCV000112993;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910403	32910403	NM_000059.3:c.1911T>G	NP_000050.2:p.Gly637=	NC_000013.10:g.32910403T>C,NC_000013.10:g.32910403T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1912T>G (p.Leu638Val)	675	BRCA2	Uncertain significance	80358481	RCV000043924; RCV000112994;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910404	32910404	NM_000059.3:c.1912T>G	NP_000050.2:p.Leu638Val	NC_000013.10:g.32910404T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1933delA (p.Arg645Glufs)	675	BRCA2	not provided	397507616	RCV000043927;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910425	32910425	NM_000059.3:c.1933delA	NP_000050.2:p.Arg645Glufs	NC_000013.10:g.32910425delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.1951G>T (p.Asp651Tyr)	675	BRCA2	Uncertain significance	80358482	RCV000043929; RCV000112998; RCV000132142;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910443	32910443	NM_000059.3:c.1951G>T	NP_000050.2:p.Asp651Tyr	NC_000013.10:g.32910443G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.1959A>G (p.Glu653=)	675	BRCA2	Uncertain significance	276174817	RCV000043930; RCV000113001;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910451	32910451	NM_000059.3:c.1959A>G	NP_000050.2:p.Glu653=	NC_000013.10:g.32910451A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2003G>A (p.Arg668Lys)	675	BRCA2	Uncertain significance	80358483	RCV000043934; RCV000113004; RCV000212217;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32910495	32910495	NM_000059.3:c.2003G>A	NP_000050.2:p.Arg668Lys	NC_000013.10:g.32910495G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.2024C>G (p.Thr675Arg)	675	BRCA2	Uncertain significance	80358484	RCV000043935; RCV000113006; RCV000222018; RCV000168556;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32910516	32910516	NM_000059.3:c.2024C>G	NP_000050.2:p.Thr675Arg	NC_000013.10:g.32910516C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2026delT (p.Cys676Valfs)	675	BRCA2	Pathogenic	80359317	RCV000043936; RCV000113007;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910518	32910518	NM_000059.3:c.2026delT	NP_000050.2:p.Cys676Valfs	NC_000013.10:g.32910518delT	Breast Cancer Information Core (BRCA2):2254&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2036delA (p.Asn679Ilefs)	675	BRCA2	Pathogenic	80359318	RCV000043937; RCV000031354;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910528	32910528	NM_000059.3:c.2036delA	NP_000050.2:p.Asn679Ilefs	NC_000013.10:g.32910528delA	Breast Cancer Information Core (BRCA2):2264&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2049_2050delTC (p.Gln684Glyfs)	675	BRCA2	not provided	80359319	RCV000043938; RCV000113008;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910541	32910542	NM_000059.3:c.2049_2050delTC	NP_000050.2:p.Gln684Glyfs	NC_000013.10:g.32910541_32910542delTC	Breast Cancer Information Core (BRCA2):2277&base_change=del TC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2064T>G (p.Tyr688Ter)	675	BRCA2	Pathogenic	80358485	RCV000043940; RCV000113009;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910556	32910556	NM_000059.3:c.2064T>G	NP_000050.2:p.Tyr688Ter	NC_000013.10:g.32910556T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2084_2088delAGGAA (p.Glu696Thrfs)	675	BRCA2	Pathogenic	80359321	RCV000043941; RCV000113011;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910576	32910580	NM_000059.3:c.2084_2088delAGGAA	NP_000050.2:p.Glu696Thrfs	NC_000013.10:g.32910576_32910580delAGGAA	Breast Cancer Information Core (BRCA2):2312&base_change=del AGGAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2092delC (p.Leu698Tyrfs)	675	BRCA2	Pathogenic	80359322	RCV000043942; RCV000031355; RCV000221559; RCV000212218; RCV000166692;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32910584	32910584	NM_000059.3:c.2092delC	NP_000050.2:p.Leu698Tyrfs	NC_000013.10:g.32910584delC	Breast Cancer Information Core (BRCA2):2320&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.2094delA (p.Gln699Serfs)	675	BRCA2	Pathogenic	80359323	RCV000043943; RCV000113012;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910586	32910586	NM_000059.3:c.2094delA	NP_000050.2:p.Gln699Serfs	NC_000013.10:g.32910586delA	Breast Cancer Information Core (BRCA2):2322&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2097G>T (p.Gln699His)	675	BRCA2	Uncertain significance	80358486	RCV000043944; RCV000113013;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910589	32910589	NM_000059.3:c.2097G>T	NP_000050.2:p.Gln699His	NC_000013.10:g.32910589G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2103_2106delTATT (p.Phe701Leufs)	675	BRCA2	Pathogenic	80359324	RCV000043945; RCV000113014; RCV000214908;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32910595	32910598	NM_000059.3:c.2103_2106delTATT	NP_000050.2:p.Phe701Leufs	NC_000013.10:g.32910595_32910598delTATT	Breast Cancer Information Core (BRCA2):2331&base_change=del TATT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2119G>T (p.Asp707Tyr)	675	BRCA2	Uncertain significance	80358487	RCV000043946; RCV000113016;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910611	32910611	NM_000059.3:c.2119G>T	NP_000050.2:p.Asp707Tyr	NC_000013.10:g.32910611G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2125C>G (p.Leu709Val)	675	BRCA2	Uncertain significance	80358489	RCV000043948; RCV000113018; RCV000164754;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910617	32910617	NM_000059.3:c.2125C>G	NP_000050.2:p.Leu709Val	NC_000013.10:g.32910617C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2135T>C (p.Leu712Pro)	675	BRCA2	Uncertain significance	80358490	RCV000043949; RCV000113019; RCV000212219; RCV000131476;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32910627	32910627	NM_000059.3:c.2135T>C	NP_000050.2:p.Leu712Pro	NC_000013.10:g.32910627T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.2150delG (p.Cys717Leufs)	675	BRCA2	not provided	397507618	RCV000043951;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910642	32910642	NM_000059.3:c.2150delG	NP_000050.2:p.Cys717Leufs	NC_000013.10:g.32910642delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2175A>T (p.Lys725Asn)	675	BRCA2	Uncertain significance	80358491	RCV000043954; RCV000113020;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910667	32910667	NM_000059.3:c.2175A>T	NP_000050.2:p.Lys725Asn	NC_000013.10:g.32910667A>G,NC_000013.10:g.32910667A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2187A>G (p.Ile729Met)	675	BRCA2	not provided	397507620	RCV000043955;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910679	32910679	NM_000059.3:c.2187A>G	NP_000050.2:p.Ile729Met	NC_000013.10:g.32910679A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2209G>T (p.Ala737Ser)	675	BRCA2	Uncertain significance	80358492	RCV000043956; RCV000113021;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910701	32910701	NM_000059.3:c.2209G>T	NP_000050.2:p.Ala737Ser	NC_000013.10:g.32910701G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2221G>T (p.Val741Leu)	675	BRCA2	Uncertain significance	80358493	RCV000043957; RCV000113023;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910713	32910713	NM_000059.3:c.2221G>T	NP_000050.2:p.Val741Leu	NC_000013.10:g.32910713G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2224C>T (p.Gln742Ter)	675	BRCA2	Pathogenic	80358494	RCV000043958; RCV000077273; RCV000212220;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32910716	32910716	NM_000059.3:c.2224C>T	NP_000050.2:p.Gln742Ter	NC_000013.10:g.32910716C>A,NC_000013.10:g.32910716C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.2231C>G (p.Ser744Ter)	675	BRCA2	Pathogenic	397507282	RCV000043959; RCV000031358;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910723	32910723	NM_000059.3:c.2231C>G	NP_000050.2:p.Ser744Ter	NC_000013.10:g.32910723C>G,NC_000013.10:g.32910723C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2254_2257delGACT (p.Asp752Phefs)	675	BRCA2	Pathogenic	80359326	RCV000043962; RCV000113027;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910746	32910749	NM_000059.3:c.2254_2257delGACT	NP_000050.2:p.Asp752Phefs	NC_000013.10:g.32910746_32910749delGACT	Breast Cancer Information Core (BRCA2):2482&base_change=del GACT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2259delT (p.Gln754Asnfs)	675	BRCA2	not provided	397507621	RCV000043963;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910751	32910751	NM_000059.3:c.2259delT	NP_000050.2:p.Gln754Asnfs	NC_000013.10:g.32910751delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2260C>A (p.Gln754Lys)	675	BRCA2	Uncertain significance	80358496	RCV000043964; RCV000113028;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910752	32910752	NM_000059.3:c.2260C>A	NP_000050.2:p.Gln754Lys	NC_000013.10:g.32910752C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2275C>T (p.Leu759Phe)	675	BRCA2	Uncertain significance	80358497	RCV000043966; RCV000113029;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910767	32910767	NM_000059.3:c.2275C>T	NP_000050.2:p.Leu759Phe	NC_000013.10:g.32910767C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2281T>C (p.Tyr761His)	675	BRCA2	Uncertain significance	80358499	RCV000043968; RCV000031360; RCV000132108;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910773	32910773	NM_000059.3:c.2281T>C	NP_000050.2:p.Tyr761His	NC_000013.10:g.32910773T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2287delC (p.His763Metfs)	675	BRCA2	Pathogenic	80359327	RCV000043969; RCV000077275;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910779	32910779	NM_000059.3:c.2287delC	NP_000050.2:p.His763Metfs	NC_000013.10:g.32910779delC	Breast Cancer Information Core (BRCA2):2515&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2303C>T (p.Thr768Ile)	675	BRCA2	Uncertain significance	55824746	RCV000043972; RCV000113030; RCV000218187; RCV000214463;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32910795	32910795	NM_000059.3:c.2303C>T	NP_000050.2:p.Thr768Ile	NC_000013.10:g.32910795C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala)	675	BRCA2	Benign;Likely benign;Uncertain significance	55968715	RCV000043974; RCV000031362; RCV000120313; RCV000131357;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32910812	32910812	NM_000059.3:c.2320A>G	NP_000050.2:p.Thr774Ala	NC_000013.10:g.32910812A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.2324C>T (p.Ser775Phe)	675	BRCA2	Uncertain significance	276174820	RCV000043975; RCV000113032;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910816	32910816	NM_000059.3:c.2324C>T	NP_000050.2:p.Ser775Phe	NC_000013.10:g.32910816C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2330dupA (p.Asp777Glufs)	675	BRCA2	Pathogenic	80359328	RCV000160270; RCV000077683; RCV000009928; RCV000206474; RCV000163933;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0376358,OMIM:176807,SNOMED CT:399068003; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32910822	32910822	NM_000059.3:c.2330dupA	NP_000050.2:p.Asp777Glufs	NC_000013.10:g.32910822dupA	Breast Cancer Information Core (BRCA2):2558&base_change=ins A,OMIM Allelic Variant:600185.0026	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; C0376358 176807 Malignant tumor of prostate
NM_000059.3(BRCA2):c.2332G>A (p.Val778Ile)	675	BRCA2	Likely benign;Uncertain significance	587779360	RCV000074521; RCV000077276; RCV000129872;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910824	32910824	NM_000059.3:c.2332G>A	NP_000050.2:p.Val778Ile	NC_000013.10:g.32910824G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2337G>T (p.Leu779=)	675	BRCA2	Likely benign;Uncertain significance	80359784	RCV000043976; RCV000113033; RCV000218492;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32910829	32910829	NM_000059.3:c.2337G>T	NP_000050.2:p.Leu779=	NC_000013.10:g.32910829G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2357C>G (p.Ser786Cys)	675	BRCA2	Uncertain significance	80358501	RCV000043978; RCV000113035;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910849	32910849	NM_000059.3:c.2357C>G	NP_000050.2:p.Ser786Cys	NC_000013.10:g.32910849C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2372C>A (p.Ser791Ter)	675	BRCA2	not provided	397507624	RCV000043980;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910864	32910864	NM_000059.3:c.2372C>A	NP_000050.2:p.Ser791Ter	NC_000013.10:g.32910864C>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2376C>A (p.Tyr792Ter)	675	BRCA2	Pathogenic	80358503	RCV000043981; RCV000077277; RCV000131058;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910868	32910868	NM_000059.3:c.2376C>A	NP_000050.2:p.Tyr792Ter	NC_000013.10:g.32910868C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2380dupA (p.Met794Asnfs)	675	BRCA2	Pathogenic	730881602	RCV000160271;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910872	32910872	NM_000059.3:c.2380dupA	NP_000050.2:p.Met794Asnfs	NC_000013.10:g.32910872dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2399G>T (p.Gly800Val)	675	BRCA2	Uncertain significance	276174821	RCV000043982; RCV000113036;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910891	32910891	NM_000059.3:c.2399G>T	NP_000050.2:p.Gly800Val	NC_000013.10:g.32910891G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2402_2412delACAATTATGAA (p.Asn801Ilefs)	675	BRCA2	not provided	397507625	RCV000043983;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910894	32910904	NM_000059.3:c.2402_2412delACAATTATGAA	NP_000050.2:p.Asn801Ilefs	NC_000013.10:g.32910894_32910904delACAATTATGAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2409T>G (p.Tyr803Ter)	675	BRCA2	Pathogenic	80358504	RCV000043984; RCV000031365; RCV000212221;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32910901	32910901	NM_000059.3:c.2409T>G	NP_000050.2:p.Tyr803Ter	NC_000013.10:g.32910901T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.2417A>G (p.Asp806Gly)	675	BRCA2	Uncertain significance	80358506	RCV000043987; RCV000083091;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910909	32910909	NM_000059.3:c.2417A>G	NP_000050.2:p.Asp806Gly	NC_000013.10:g.32910909A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2428A>G (p.Thr810Ala)	675	BRCA2	Uncertain significance	80358508	RCV000043990; RCV000077278;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910920	32910920	NM_000059.3:c.2428A>G	NP_000050.2:p.Thr810Ala	NC_000013.10:g.32910920A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2429C>T (p.Thr810Ile)	675	BRCA2	Likely benign;Uncertain significance	80358509	RCV000043991; RCV000113039; RCV000131752;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910921	32910921	NM_000059.3:c.2429C>T	NP_000050.2:p.Thr810Ile	NC_000013.10:g.32910921C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2435delA (p.Asn812Ilefs)	675	BRCA2	Pathogenic	80359329	RCV000043992; RCV000113042; RCV000131948;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910927	32910927	NM_000059.3:c.2435delA	NP_000050.2:p.Asn812Ilefs	NC_000013.10:g.32910927delA	Breast Cancer Information Core (BRCA2):2663&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2435dupA (p.Asn812Lysfs)	675	BRCA2	Pathogenic	397507626	RCV000043993; RCV000213096;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32910927	32910927	NM_000059.3:c.2435dupA	NP_000050.2:p.Asn812Lysfs	NC_000013.10:g.32910927dupA	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2441C>T (p.Pro814Leu)	675	BRCA2	Uncertain significance	80358510	RCV000043994; RCV000113044;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910933	32910933	NM_000059.3:c.2441C>T	NP_000050.2:p.Pro814Leu	NC_000013.10:g.32910933C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2442delC (p.Met815Trpfs)	675	BRCA2	not provided	397507627	RCV000043995;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910934	32910934	NM_000059.3:c.2442delC	NP_000050.2:p.Met815Trpfs	NC_000013.10:g.32910934delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2446delG (p.Glu816Lysfs)	675	BRCA2	Pathogenic	80359330	RCV000043996; RCV000113045;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910938	32910938	NM_000059.3:c.2446delG	NP_000050.2:p.Glu816Lysfs	NC_000013.10:g.32910938delG	Breast Cancer Information Core (BRCA2):2674&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2450delA (p.Lys817Argfs)	675	BRCA2	Pathogenic	80359331	RCV000043998; RCV000113046;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910942	32910942	NM_000059.3:c.2450delA	NP_000050.2:p.Lys817Argfs	NC_000013.10:g.32910942delA	Breast Cancer Information Core (BRCA2):2678&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2455C>T (p.Gln819Ter)	675	BRCA2	not provided	397507629	RCV000043999;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910947	32910947	NM_000059.3:c.2455C>T	NP_000050.2:p.Gln819Ter	NC_000013.10:g.32910947C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2462T>A (p.Val821Glu)	675	BRCA2	Uncertain significance	587779361	RCV000074522;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910954	32910954	NM_000059.3:c.2462T>A	NP_000050.2:p.Val821Glu	NC_000013.10:g.32910954T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2471T>G (p.Leu824Ter)	675	BRCA2	not provided	397507631	RCV000044003;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32910963	32910963	NM_000059.3:c.2471T>G	NP_000050.2:p.Leu824Ter	NC_000013.10:g.32910963T>C,NC_000013.10:g.32910963T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2471_2476delTAAATG (p.Leu824_Arg1160delinsTer)	675	BRCA2	Pathogenic	276174823	RCV000044004; RCV000113048;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910963	32910968	NM_000059.3:c.2471_2476delTAAATG	NP_000050.2:p.Leu824_Arg1160delinsTer	NC_000013.10:g.32910963_32910968delTAAATG	Breast Cancer Information Core (BRCA2):2699&base_change=del TAAATG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2483A>G (p.Tyr828Cys)	675	BRCA2	Uncertain significance	80358513	RCV000044005; RCV000113049;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910975	32910975	NM_000059.3:c.2483A>G	NP_000050.2:p.Tyr828Cys	NC_000013.10:g.32910975A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2503C>T (p.Pro835Ser)	675	BRCA2	Uncertain significance	80358514	RCV000044006; RCV000113052;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32910995	32910995	NM_000059.3:c.2503C>T	NP_000050.2:p.Pro835Ser	NC_000013.10:g.32910995C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2517C>A (p.Tyr839Ter)	675	BRCA2	Pathogenic	80358516	RCV000044008; RCV000113053; RCV000223462; RCV000131057;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32911009	32911009	NM_000059.3:c.2517C>A	NP_000050.2:p.Tyr839Ter	NC_000013.10:g.32911009C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.2524G>C (p.Val842Leu)	675	BRCA2	Uncertain significance	587782454	RCV000160184; RCV000131527;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911016	32911016	NM_000059.3:c.2524G>C	NP_000050.2:p.Val842Leu	NC_000013.10:g.32911016G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2528C>T (p.Ala843Val)	675	BRCA2	Uncertain significance	80358517	RCV000044009; RCV000113055; RCV000219470;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911020	32911020	NM_000059.3:c.2528C>T	NP_000050.2:p.Ala843Val	NC_000013.10:g.32911020C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2537C>G (p.Ser846Ter)	675	BRCA2	Pathogenic	80358518	RCV000044010; RCV000113056;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911029	32911029	NM_000059.3:c.2537C>G	NP_000050.2:p.Ser846Ter	NC_000013.10:g.32911029C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2538A>G (p.Ser846=)	675	BRCA2	Benign	11571654	RCV000044012; RCV000113058;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911030	32911030	NM_000059.3:c.2538A>G	NP_000050.2:p.Ser846=	NC_000013.10:g.32911030A>C,NC_000013.10:g.32911030A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2545delG (p.Val849Tyrfs)	675	BRCA2	Pathogenic	80359333	RCV000044013; RCV000113059;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911037	32911037	NM_000059.3:c.2545delG	NP_000050.2:p.Val849Tyrfs	NC_000013.10:g.32911037delG	Breast Cancer Information Core (BRCA2):2773&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2555A>G (p.Asn852Ser)	675	BRCA2	Uncertain significance	80358519	RCV000044015; RCV000031371;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911047	32911047	NM_000059.3:c.2555A>G	NP_000050.2:p.Asn852Ser	NC_000013.10:g.32911047A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2561A>G (p.Asn854Ser)	675	BRCA2	Uncertain significance	80358520	RCV000044016; RCV000113061; RCV000219656;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911053	32911053	NM_000059.3:c.2561A>G	NP_000050.2:p.Asn854Ser	NC_000013.10:g.32911053A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2564_2565delCA (p.Thr855Lysfs)	675	BRCA2	Pathogenic	80359334	RCV000044017; RCV000113062;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911056	32911057	NM_000059.3:c.2564_2565delCA	NP_000050.2:p.Thr855Lysfs	NC_000013.10:g.32911056_32911057delCA	Breast Cancer Information Core (BRCA2):2792&base_change=del CA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2586_2592delAAATCAA (p.Asn863Lysfs)	675	BRCA2	Pathogenic	80359336	RCV000044018; RCV000113066;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911078	32911084	NM_000059.3:c.2586_2592delAAATCAA	NP_000050.2:p.Asn863Lysfs	NC_000013.10:g.32911078_32911084delAAATCAA	Breast Cancer Information Core (BRCA2):2812&base_change=del AAAAATC,Breast Cancer Information Core (BRCA2):2814&base_change=del AAATCAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2589T>A (p.Asn863Lys)	675	BRCA2	Benign;Uncertain significance	80358521	RCV000044020; RCV000031375; RCV000130583;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911081	32911081	NM_000059.3:c.2589T>A	NP_000050.2:p.Asn863Lys	NC_000013.10:g.32911081T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2589delT (p.Gln864Lysfs)	675	BRCA2	not provided	397507632	RCV000044021;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911081	32911081	NM_000059.3:c.2589delT	NP_000050.2:p.Gln864Lysfs	NC_000013.10:g.32911081delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2596_2599delGAAA (p.Glu866Leufs)	675	BRCA2	not provided	397507633	RCV000044022;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911088	32911091	NM_000059.3:c.2596_2599delGAAA	NP_000050.2:p.Glu866Leufs	NC_000013.10:g.32911088_32911091delGAAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2599A>G (p.Thr867Ala)	675	BRCA2	Uncertain significance	80358522	RCV000044023; RCV000113068;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911091	32911091	NM_000059.3:c.2599A>G	NP_000050.2:p.Thr867Ala	NC_000013.10:g.32911091A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2603delC (p.Thr868Ilefs)	675	BRCA2	Pathogenic	276174824	RCV000044024; RCV000113069; RCV000167161;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911095	32911095	NM_000059.3:c.2603delC	NP_000050.2:p.Thr868Ilefs	NC_000013.10:g.32911095delC	Breast Cancer Information Core (BRCA2):2831&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2606C>T (p.Ser869Leu)	675	BRCA2	Uncertain significance	80358523	RCV000044025; RCV000113070; RCV000163028;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911098	32911098	NM_000059.3:c.2606C>T	NP_000050.2:p.Ser869Leu	NC_000013.10:g.32911098C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2612C>A (p.Ser871Ter)	675	BRCA2	Pathogenic	397507634	RCV000044026; RCV000077282; RCV000213349;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911104	32911104	NM_000059.3:c.2612C>A	NP_000050.2:p.Ser871Ter	NC_000013.10:g.32911104C>A,NC_000013.10:g.32911104C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2612delCinsTTT (p.Ser871Phefs)	675	BRCA2	not provided	397507635	RCV000044027;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911104	32911104	NM_000059.3:c.2612delCinsTTT	NP_000050.2:p.Ser871Phefs	NC_000013.10:g.32911104delCinsTTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2636_2637delCT (p.Ser879Terfs)	675	BRCA2	Pathogenic	276174826	RCV000044029; RCV000113072;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911128	32911129	NM_000059.3:c.2636_2637delCT	NP_000050.2:p.Ser879Terfs	NC_000013.10:g.32911128_32911129delCT	Breast Cancer Information Core (BRCA2):2864&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2637_2638delTG (p.Glu880Argfs)	675	BRCA2	not provided	397507636	RCV000044030;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911129	32911130	NM_000059.3:c.2637_2638delTG	NP_000050.2:p.Glu880Argfs	NC_000013.10:g.32911129_32911130delTG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2653_2656delGACA (p.Asp885Metfs)	675	BRCA2	Pathogenic	80359340	RCV000044033; RCV000113073; RCV000162913;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911145	32911148	NM_000059.3:c.2653_2656delGACA	NP_000050.2:p.Asp885Metfs	NC_000013.10:g.32911145_32911148delGACA	Breast Cancer Information Core (BRCA2):2881&base_change=del GACA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2657A>T (p.Asn886Ile)	675	BRCA2	Uncertain significance	80358526	RCV000044034; RCV000113074;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911149	32911149	NM_000059.3:c.2657A>T	NP_000050.2:p.Asn886Ile	NC_000013.10:g.32911149A>G,NC_000013.10:g.32911149A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2678A>G (p.Gln893Arg)	675	BRCA2	Uncertain significance	276174827	RCV000044036; RCV000113075;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911170	32911170	NM_000059.3:c.2678A>G	NP_000050.2:p.Gln893Arg	NC_000013.10:g.32911170A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2684delC (p.Ala895Valfs)	675	BRCA2	Pathogenic	80359342	RCV000044038; RCV000113076;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911176	32911176	NM_000059.3:c.2684delC	NP_000050.2:p.Ala895Valfs	NC_000013.10:g.32911176delC	Breast Cancer Information Core (BRCA2):2912&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2692_2696delAGGAA (p.Arg898Terfs)	675	BRCA2	Pathogenic	398122752	RCV000160272; RCV000077692;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911184	32911188	NM_000059.3:c.2692_2696delAGGAA	NP_000050.2:p.Arg898Terfs	NC_000013.10:g.32911184_32911188delAGGAA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2701delC (p.Ala902Leufs)	675	BRCA2	Pathogenic	397507637	RCV000044042;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911193	32911193	NM_000059.3:c.2701delC	NP_000050.2:p.Ala902Leufs	NC_000013.10:g.32911193delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2731delG (p.Glu911Lysfs)	675	BRCA2	Pathogenic	80359344	RCV000044043; RCV000113084;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911223	32911223	NM_000059.3:c.2731delG	NP_000050.2:p.Glu911Lysfs	NC_000013.10:g.32911223delG	Breast Cancer Information Core (BRCA2):2959&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2735C>T (p.Thr912Ile)	675	BRCA2	Uncertain significance	276174828	RCV000044044; RCV000113086; RCV000221941;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911227	32911227	NM_000059.3:c.2735C>T	NP_000050.2:p.Thr912Ile	NC_000013.10:g.32911227C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2748T>A (p.Cys916Ter)	675	BRCA2	not provided	397507638	RCV000044047;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911240	32911240	NM_000059.3:c.2748T>A	NP_000050.2:p.Cys916Ter	NC_000013.10:g.32911240T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2760delC (p.Ile921Phefs)	675	BRCA2	Pathogenic	80359346	RCV000044049; RCV000113088;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911252	32911252	NM_000059.3:c.2760delC	NP_000050.2:p.Ile921Phefs	NC_000013.10:g.32911252delC	Breast Cancer Information Core (BRCA2):2988&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2765dupT (p.Lys923Glnfs)	675	BRCA2	not provided	397507639	RCV000044050;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911257	32911257	NM_000059.3:c.2765dupT	NP_000050.2:p.Lys923Glnfs	NC_000013.10:g.32911257dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2773dupT (p.Ser925Phefs)	675	BRCA2	not provided	397507640	RCV000044053;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911265	32911265	NM_000059.3:c.2773dupT	NP_000050.2:p.Ser925Phefs	NC_000013.10:g.32911265dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2774_2775delCT (p.Ser925Tyrfs)	675	BRCA2	not provided	397507641	RCV000044054;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911266	32911267	NM_000059.3:c.2774_2775delCT	NP_000050.2:p.Ser925Tyrfs	NC_000013.10:g.32911266_32911267delCT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2786delT (p.Leu929Tyrfs)	675	BRCA2	not provided	397507642	RCV000044056;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911278	32911278	NM_000059.3:c.2786delT	NP_000050.2:p.Leu929Tyrfs	NC_000013.10:g.32911278delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2786dupT (p.Leu929Phefs)	675	BRCA2	Pathogenic	80359347	RCV000044057; RCV000077694;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911278	32911278	NM_000059.3:c.2786dupT	NP_000050.2:p.Leu929Phefs	NC_000013.10:g.32911278dupT	Breast Cancer Information Core (BRCA2):3014&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2798C>G (p.Thr933Arg)	675	BRCA2	Uncertain significance	276174830	RCV000044058; RCV000077286;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911290	32911290	NM_000059.3:c.2798C>G	NP_000050.2:p.Thr933Arg	NC_000013.10:g.32911290C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2798_2799delCA (p.Thr933Argfs)	675	BRCA2	Pathogenic	80359348	RCV000044059; RCV000113092;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911290	32911291	NM_000059.3:c.2798_2799delCA	NP_000050.2:p.Thr933Argfs	NC_000013.10:g.32911290_32911291delCA	Breast Cancer Information Core (BRCA2):3026&base_change=del CA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2798delC (p.Thr933Lysfs)	675	BRCA2	Pathogenic	80359349	RCV000044060; RCV000113093;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911290	32911290	NM_000059.3:c.2798delC	NP_000050.2:p.Thr933Lysfs	NC_000013.10:g.32911290delC	Breast Cancer Information Core (BRCA2):3026&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2805_2808delTAAA (p.Ala938Profs)	675	BRCA2	Pathogenic	80359350	RCV000044063; RCV000113095;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911297	32911300	NM_000059.3:c.2805_2808delTAAA	NP_000050.2:p.Ala938Profs	NC_000013.10:g.32911297_32911300delTAAA	Breast Cancer Information Core (BRCA2):3033&base_change=del TAAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2810_2811delAA (p.Gln937Argfs)	675	BRCA2	Pathogenic	80359353	RCV000044065; RCV000113097;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911302	32911303	NM_000059.3:c.2810_2811delAA	NP_000050.2:p.Gln937Argfs	NC_000013.10:g.32911302_32911303delAA	Breast Cancer Information Core (BRCA2):3038&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2818C>T (p.Gln940Ter)	675	BRCA2	Pathogenic	80358532	RCV000044068; RCV000031385; RCV000131103;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911310	32911310	NM_000059.3:c.2818C>T	NP_000050.2:p.Gln940Ter	NC_000013.10:g.32911310C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2828_2831delTTAA (p.Ile943Lysfs)	675	BRCA2	not provided	397507643	RCV000044069;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911320	32911323	NM_000059.3:c.2828_2831delTTAA	NP_000050.2:p.Ile943Lysfs	NC_000013.10:g.32911320_32911323delTTAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2830A>T (p.Lys944Ter)	675	BRCA2	Pathogenic	80358533	RCV000044070; RCV000077287; RCV000212222; RCV000131101;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32911322	32911322	NM_000059.3:c.2830A>T	NP_000050.2:p.Lys944Ter	NC_000013.10:g.32911322A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.2834_2835delAA (p.Lys945Argfs)	675	BRCA2	Pathogenic	80359356	RCV000049220; RCV000113099;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911326	32911327	NM_000059.3:c.2834_2835delAA	NP_000050.2:p.Lys945Argfs	NC_000013.10:g.32911326_32911327delAA	Breast Cancer Information Core (BRCA2):3062&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2835delA (p.Asp946Ilefs)	675	BRCA2	not provided	397509342	RCV000049221;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911327	32911327	NM_000059.3:c.2835delA	NP_000050.2:p.Asp946Ilefs	NC_000013.10:g.32911327delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2836delG (p.Asp946Ilefs)	675	BRCA2	Pathogenic	80359358	RCV000044072; RCV000113102;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911328	32911328	NM_000059.3:c.2836delG	NP_000050.2:p.Asp946Ilefs	NC_000013.10:g.32911328delG	Breast Cancer Information Core (BRCA2):3064&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2837A>G (p.Asp946Gly)	675	BRCA2	Likely benign;Uncertain significance	55972907	RCV000044073; RCV000113103; RCV000212223; RCV000132081;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911329	32911329	NM_000059.3:c.2837A>G	NP_000050.2:p.Asp946Gly	NC_000013.10:g.32911329A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.2843T>C (p.Val948Ala)	675	BRCA2	Uncertain significance	730881517	RCV000160051;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911335	32911335	NM_000059.3:c.2843T>C	NP_000050.2:p.Val948Ala	NC_000013.10:g.32911335T>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2845delT (p.Tyr949Metfs)	675	BRCA2	not provided	397507644	RCV000044074;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911337	32911337	NM_000059.3:c.2845delT	NP_000050.2:p.Tyr949Metfs	NC_000013.10:g.32911337delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2849T>A (p.Val950Asp)	675	BRCA2	Uncertain significance	80358535	RCV000044075; RCV000113105; RCV000222954; RCV000120346;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32911341	32911341	NM_000059.3:c.2849T>A	NP_000050.2:p.Val950Asp	NC_000013.10:g.32911341T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2854G>T (p.Ala952Ser)	675	BRCA2	Uncertain significance	80358536	RCV000044076; RCV000113107;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911346	32911346	NM_000059.3:c.2854G>T	NP_000050.2:p.Ala952Ser	NC_000013.10:g.32911346G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2870delA (p.Asn957Ilefs)	675	BRCA2	not provided	397507645	RCV000044078;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911362	32911362	NM_000059.3:c.2870delA	NP_000050.2:p.Asn957Ilefs	NC_000013.10:g.32911362delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2872A>G (p.Ser958Gly)	675	BRCA2	Uncertain significance	80358537	RCV000044079; RCV000113109;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911364	32911364	NM_000059.3:c.2872A>G	NP_000050.2:p.Ser958Gly	NC_000013.10:g.32911364A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2881C>T (p.Gln961Ter)	675	BRCA2	Pathogenic	80358538	RCV000044080; RCV000077288;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911373	32911373	NM_000059.3:c.2881C>T	NP_000050.2:p.Gln961Ter	NC_000013.10:g.32911373C>G,NC_000013.10:g.32911373C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=)	675	BRCA2	Benign;Likely benign;Uncertain significance	11571655	RCV000123957; RCV000113110; RCV000044081; RCV000168559; RCV000162529;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911375	32911375	NM_000059.3:c.2883G>A	NP_000050.2:p.Gln961=	NC_000013.10:g.32911375G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.2899C>G (p.Leu967Val)	675	BRCA2	Uncertain significance	80358539	RCV000044082; RCV000113111;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911391	32911391	NM_000059.3:c.2899C>G	NP_000050.2:p.Leu967Val	NC_000013.10:g.32911391C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2912T>G (p.Leu971Ter)	675	BRCA2	not provided	397507647	RCV000044084;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911404	32911404	NM_000059.3:c.2912T>G	NP_000050.2:p.Leu971Ter	NC_000013.10:g.32911404T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2927_2929delCCT (p.Ser976del)	675	BRCA2	Uncertain significance	80359363	RCV000044088; RCV000113116;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911419	32911421	NM_000059.3:c.2927_2929delCCT	NP_000050.2:p.Ser976del	NC_000013.10:g.32911419_32911421delCCT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2950G>T (p.Glu984Ter)	675	BRCA2	not provided	397507648	RCV000044092;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911442	32911442	NM_000059.3:c.2950G>T	NP_000050.2:p.Glu984Ter	NC_000013.10:g.32911442G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2957dupA (p.Asn986Lysfs)	675	BRCA2	Pathogenic	80359365	RCV000160274; RCV000077700; RCV000213454; RCV000044094;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911449	32911449	NM_000059.3:c.2957dupA	NP_000050.2:p.Asn986Lysfs	NC_000013.10:g.32911449_32911450insG,NC_000013.10:g.32911449dupA	Breast Cancer Information Core (BRCA2):3185&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.2959_2961delAAT (p.Asn987del)	675	BRCA2	Uncertain significance	730881603	RCV000160275;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911451	32911453	NM_000059.3:c.2959_2961delAAT	NP_000050.2:p.Asn987del	NC_000013.10:g.32911451_32911453delAAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2965T>G (p.Tyr989Asp)	675	BRCA2	Uncertain significance	80358542	RCV000044096; RCV000113121;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911457	32911457	NM_000059.3:c.2965T>G	NP_000050.2:p.Tyr989Asp	NC_000013.10:g.32911457T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.2979G>A (p.Trp993Ter)	675	BRCA2	Pathogenic	80358544	RCV000044097; RCV000031393; RCV000203665; RCV000162915;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32911471	32911471	NM_000059.3:c.2979G>A	NP_000050.2:p.Trp993Ter	NC_000013.10:g.32911471G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.2990T>A (p.Leu997Ter)	675	BRCA2	not provided	397507649	RCV000044100;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911482	32911482	NM_000059.3:c.2990T>A	NP_000050.2:p.Leu997Ter	NC_000013.10:g.32911482T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3010delA (p.Ser1004Valfs)	675	BRCA2	Pathogenic	730881604	RCV000160279;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911502	32911502	NM_000059.3:c.3010delA	NP_000050.2:p.Ser1004Valfs	NC_000013.10:g.32911502delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3014_3015dupTT (p.Gly1006Leufs)	675	BRCA2	not provided	397507650	RCV000044103;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911506	32911507	NM_000059.3:c.3014_3015dupTT	NP_000050.2:p.Gly1006Leufs	NC_000013.10:g.32911506_32911507dupTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3018delA (p.Gly1007Valfs)	675	BRCA2	Pathogenic	397507651	RCV000044104; RCV000221234;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911510	32911510	NM_000059.3:c.3018delA	NP_000050.2:p.Gly1007Valfs	NC_000013.10:g.32911510delA	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3043A>T (p.Lys1015Ter)	675	BRCA2	not provided	397507652	RCV000044106;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911535	32911535	NM_000059.3:c.3043A>T	NP_000050.2:p.Lys1015Ter	NC_000013.10:g.32911535A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3051delC (p.Lys1018Serfs)	675	BRCA2	Pathogenic	80359367	RCV000044107; RCV000113127;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911543	32911543	NM_000059.3:c.3051delC	NP_000050.2:p.Lys1018Serfs	NC_000013.10:g.32911543delC	Breast Cancer Information Core (BRCA2):3279&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3068dupA (p.Asn1023Lysfs)	675	BRCA2	Pathogenic	80359368	RCV000044110; RCV000113129;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911560	32911560	NM_000059.3:c.3068dupA	NP_000050.2:p.Asn1023Lysfs	NC_000013.10:g.32911560dupA	Breast Cancer Information Core (BRCA2):3295&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3069_3074delCATTAA (p.Asn1023_Ile1024del)	675	BRCA2	Uncertain significance	730881605	RCV000160280; RCV000220135;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911561	32911566	NM_000059.3:c.3069_3074delCATTAA	NP_000050.2:p.Asn1023_Ile1024del	NC_000013.10:g.32911561_32911566delCATTAA	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3075G>T (p.Lys1025Asn)	675	BRCA2	Uncertain significance	80358551	RCV000044113; RCV000113131;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911567	32911567	NM_000059.3:c.3075G>T	NP_000050.2:p.Lys1025Asn	NC_000013.10:g.32911567G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3075_3076delGAinsTT (p.Lys1025_Lys1026delinsAsnTer)	675	BRCA2	Pathogenic	587779362	RCV000074523; RCV000205398; RCV000165145;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	13	32911567	32911568	NM_000059.3:c.3075_3076delGAinsTT	NP_000050.2:p.Lys1025_Lys1026delinsAsnTer	NC_000013.10:g.32911567_32911568delGAinsTT	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3076A>T (p.Lys1026Ter)	675	BRCA2	Pathogenic	80358552	RCV000044114; RCV000113132;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911568	32911568	NM_000059.3:c.3076A>T	NP_000050.2:p.Lys1026Ter	NC_000013.10:g.32911568A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3085A>G (p.Met1029Val)	675	BRCA2	Uncertain significance	80358553	RCV000044115; RCV000083096;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911577	32911577	NM_000059.3:c.3085A>G	NP_000050.2:p.Met1029Val	NC_000013.10:g.32911577A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3092T>C (p.Phe1031Ser)	675	BRCA2	Uncertain significance	80358555	RCV000044117; RCV000113133;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911584	32911584	NM_000059.3:c.3092T>C	NP_000050.2:p.Phe1031Ser	NC_000013.10:g.32911584T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3096_3110delAGATATTGAAGAACAinsT (p.Lys1032Asnfs)	675	BRCA2	not provided	397507655	RCV000044118;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911588	32911602	NM_000059.3:c.3096_3110delAGATATTGAAGAACAinsT	NP_000050.2:p.Lys1032Asnfs	NC_000013.10:g.32911588_32911602delAGATATTGAAGAACAinsT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3103G>T (p.Glu1035Ter)	675	BRCA2	Pathogenic	80358556	RCV000044119; RCV000077292; RCV000212224; RCV000131104;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32911595	32911595	NM_000059.3:c.3103G>T	NP_000050.2:p.Glu1035Ter	NC_000013.10:g.32911595G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.3122G>A (p.Ser1041Asn)	675	BRCA2	Uncertain significance	276174832	RCV000044121; RCV000113136;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911614	32911614	NM_000059.3:c.3122G>A	NP_000050.2:p.Ser1041Asn	NC_000013.10:g.32911614G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3132T>G (p.Cys1044Trp)	675	BRCA2	Uncertain significance	80358558	RCV000044122; RCV000113137;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911624	32911624	NM_000059.3:c.3132T>G	NP_000050.2:p.Cys1044Trp	NC_000013.10:g.32911624T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3142G>A (p.Val1048Ile)	675	BRCA2	Uncertain significance	80358560	RCV000044124; RCV000113139;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911634	32911634	NM_000059.3:c.3142G>A	NP_000050.2:p.Val1048Ile	NC_000013.10:g.32911634G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3146delA (p.Asn1049Ilefs)	675	BRCA2	Pathogenic	80359370	RCV000044125; RCV000113140;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911638	32911638	NM_000059.3:c.3146delA	NP_000050.2:p.Asn1049Ilefs	NC_000013.10:g.32911638delA	Breast Cancer Information Core (BRCA2):3374&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3158T>G (p.Leu1053Ter)	675	BRCA2	Pathogenic	41293477	RCV000044127; RCV000031401; RCV000162916;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911650	32911650	NM_000059.3:c.3158T>G	NP_000050.2:p.Leu1053Ter	NC_000013.10:g.32911650T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3160_3163delGATA (p.Asp1054Ilefs)	675	BRCA2	Pathogenic	80359371	RCV000044133; RCV000031405; RCV000162917;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911652	32911655	NM_000059.3:c.3160_3163delGATA	NP_000050.2:p.Asp1054Ilefs	NC_000013.10:g.32911652_32911655delGATA	Breast Cancer Information Core (BRCA2):3388&base_change=del GATA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3167_3170delAAAA (p.Gln1056Argfs)	675	BRCA2	Pathogenic	80359372	RCV000044135; RCV000113141;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911659	32911662	NM_000059.3:c.3167_3170delAAAA	NP_000050.2:p.Gln1056Argfs	NC_000013.10:g.32911659_32911662delAAAA	Breast Cancer Information Core (BRCA2):3395&base_change=del AAAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3170A>G (p.Lys1057Arg)	675	BRCA2	Uncertain significance	80358562	RCV000044140; RCV000113142;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911662	32911662	NM_000059.3:c.3170A>G	NP_000050.2:p.Lys1057Arg	NC_000013.10:g.32911662A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3189_3192delGTCA (p.Ser1064Leufs)	675	BRCA2	Pathogenic	80359374	RCV000044142; RCV000113143;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911681	32911684	NM_000059.3:c.3189_3192delGTCA	NP_000050.2:p.Ser1064Leufs	NC_000013.10:g.32911681_32911684delGTCA	Breast Cancer Information Core (BRCA2):3417&base_change=del GTCA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3195_3198delTAAT (p.Asn1066Leufs)	675	BRCA2	Pathogenic	80359375	RCV000044143; RCV000113145;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911687	32911690	NM_000059.3:c.3195_3198delTAAT	NP_000050.2:p.Asn1066Leufs	NC_000013.10:g.32911687_32911690delTAAT	Breast Cancer Information Core (BRCA2):3420&base_change=del AATT,Breast Cancer Information Core (BRCA2):3423&base_change=del TAAT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3195delT (p.Asn1066Ilefs)	675	BRCA2	Pathogenic	397507657	RCV000044144; RCV000166884;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911687	32911687	NM_000059.3:c.3195delT	NP_000050.2:p.Asn1066Ilefs	NC_000013.10:g.32911687delT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3199delA (p.Thr1067Leufs)	675	BRCA2	Pathogenic	80359377	RCV000044145; RCV000077296;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911691	32911691	NM_000059.3:c.3199delA	NP_000050.2:p.Thr1067Leufs	NC_000013.10:g.32911691delA	Breast Cancer Information Core (BRCA2):3427&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3202delG (p.Val1068Tyrfs)	675	BRCA2	Pathogenic	397507658	RCV000044146; RCV000113146;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911694	32911694	NM_000059.3:c.3202delG	NP_000050.2:p.Val1068Tyrfs	NC_000013.10:g.32911694delG	Breast Cancer Information Core (BRCA2):3430&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3206C>T (p.Ser1069Phe)	675	BRCA2	Uncertain significance	80358563	RCV000044147; RCV000113147; RCV000165150;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911698	32911698	NM_000059.3:c.3206C>T	NP_000050.2:p.Ser1069Phe	NC_000013.10:g.32911698C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3211C>T (p.His1071Tyr)	675	BRCA2	Uncertain significance	80358564	RCV000044148; RCV000113148; RCV000212225;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911703	32911703	NM_000059.3:c.3211C>T	NP_000050.2:p.His1071Tyr	NC_000013.10:g.32911703C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.3212A>G (p.His1071Arg)	675	BRCA2	Uncertain significance	80358565	RCV000044149; RCV000077297; RCV000220168;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911704	32911704	NM_000059.3:c.3212A>G	NP_000050.2:p.His1071Arg	NC_000013.10:g.32911704A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3218A>G (p.Gln1073Arg)	675	BRCA2	Likely benign;Uncertain significance	80358566	RCV000074524; RCV000031409; RCV000044150; RCV000129622;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32911710	32911710	NM_000059.3:c.3218A>G	NP_000050.2:p.Gln1073Arg	NC_000013.10:g.32911710A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3226_3230delGTAGT (p.Val1076Cysfs)	675	BRCA2	Pathogenic	397507659	RCV000044151; RCV000130009;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911718	32911722	NM_000059.3:c.3226_3230delGTAGT	NP_000050.2:p.Val1076Cysfs	NC_000013.10:g.32911718_32911722delGTAGT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3228_3229delAG (p.Val1077Cysfs)	675	BRCA2	Pathogenic	80359378	RCV000044152; RCV000113149;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911720	32911721	NM_000059.3:c.3228_3229delAG	NP_000050.2:p.Val1077Cysfs	NC_000013.10:g.32911720_32911721delAG	Breast Cancer Information Core (BRCA2):3456&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3235delT (p.Ser1079Leufs)	675	BRCA2	not provided	397507660	RCV000044154;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911727	32911727	NM_000059.3:c.3235delT	NP_000050.2:p.Ser1079Leufs	NC_000013.10:g.32911727delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3245A>G (p.Lys1082Arg)	675	BRCA2	Uncertain significance	80358569	RCV000044156; RCV000113150; RCV000212226;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911737	32911737	NM_000059.3:c.3245A>G	NP_000050.2:p.Lys1082Arg	NC_000013.10:g.32911737A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.3256A>G (p.Ile1086Val)	675	BRCA2	Likely benign;Uncertain significance	80358571	RCV000044158; RCV000077300; RCV000168564;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911748	32911748	NM_000059.3:c.3256A>G	NP_000050.2:p.Ile1086Val	NC_000013.10:g.32911748A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.3262C>T (p.Pro1088Ser)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358572	RCV000044159; RCV000031410; RCV000195328; RCV000129258;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32911754	32911754	NM_000059.3:c.3262C>T	NP_000050.2:p.Pro1088Ser	NC_000013.10:g.32911754C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3262_3263delCC (p.Pro1088Serfs)	675	BRCA2	Pathogenic	80359379	RCV000044160; RCV000113151;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911754	32911755	NM_000059.3:c.3262_3263delCC	NP_000050.2:p.Pro1088Serfs	NC_000013.10:g.32911754_32911755delCC	Breast Cancer Information Core (BRCA2):3490&base_change=del CC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs)	675	BRCA2	Likely pathogenic;Pathogenic	80359380	RCV000044163; RCV000031411; RCV000203627; RCV000131493;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32911756	32911756	NM_000059.3:c.3264dupT	NP_000050.2:p.Gln1089Serfs	NC_000013.10:g.32911756_32911757insTT,NC_000013.10:g.32911756dupT	Breast Cancer Information Core (BRCA2):3492&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3264_3265insTT (p.Gln1089Phefs)	675	BRCA2	not provided	80359380	RCV000044162;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911756	32911757	NM_000059.3:c.3264_3265insTT	NP_000050.2:p.Gln1089Phefs	NC_000013.10:g.32911756_32911757insTT,NC_000013.10:g.32911756dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3265C>T (p.Gln1089Ter)	675	BRCA2	Pathogenic	80358573	RCV000044164; RCV000113153;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911757	32911757	NM_000059.3:c.3265C>T	NP_000050.2:p.Gln1089Ter	NC_000013.10:g.32911757C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3267_3268delGA (p.Gln1089Hisfs)	675	BRCA2	not provided	397507661	RCV000044165;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911759	32911760	NM_000059.3:c.3267_3268delGA	NP_000050.2:p.Gln1089Hisfs	NC_000013.10:g.32911759_32911760delGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3269delT (p.Met1090Serfs)	675	BRCA2	Pathogenic	80359381	RCV000044166; RCV000113154;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911761	32911761	NM_000059.3:c.3269delT	NP_000050.2:p.Met1090Serfs	NC_000013.10:g.32911761delT	Breast Cancer Information Core (BRCA2):3497&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3270G>C (p.Met1090Ile)	675	BRCA2	Uncertain significance	80358574	RCV000044167; RCV000113155;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911762	32911762	NM_000059.3:c.3270G>C	NP_000050.2:p.Met1090Ile	NC_000013.10:g.32911762G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3273_3276delATTT (p.Leu1091Phefs)	675	BRCA2	Pathogenic	80359382	RCV000044168; RCV000113157;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911765	32911768	NM_000059.3:c.3273_3276delATTT	NP_000050.2:p.Leu1091Phefs	NC_000013.10:g.32911765_32911768delATTT	Breast Cancer Information Core (BRCA2):3501&base_change=del ATTT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3277delT (p.Ser1093Profs)	675	BRCA2	Pathogenic	276174833	RCV000044169; RCV000113158;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911769	32911769	NM_000059.3:c.3277delT	NP_000050.2:p.Ser1093Profs	NC_000013.10:g.32911769delT	Breast Cancer Information Core (BRCA2):3505&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3280A>T (p.Lys1094Ter)	675	BRCA2	Pathogenic	690016539	RCV000149512;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911772	32911772	NM_000059.3:c.3280A>T	NP_000050.2:p.Lys1094Ter	NC_000013.10:g.32911772A>T	VariO:0043	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3283C>T (p.Gln1095Ter)	675	BRCA2	Pathogenic	397507662	RCV000044170; RCV000162053;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911775	32911775	NM_000059.3:c.3283C>T	NP_000050.2:p.Gln1095Ter	NC_000013.10:g.32911775C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3291dupT (p.Asn1098Terfs)	675	BRCA2	Pathogenic	690016540	RCV000149513;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911783	32911783	NM_000059.3:c.3291dupT	NP_000050.2:p.Asn1098Terfs	NC_000013.10:g.32911783dupT	VariO:0043	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3292delA (p.Asn1098Ilefs)	675	BRCA2	Pathogenic	690016541	RCV000149514;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911784	32911784	NM_000059.3:c.3292delA	NP_000050.2:p.Asn1098Ilefs	NC_000013.10:g.32911784delA	VariO:0043	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3294delT (p.Ser1099Glnfs)	675	BRCA2	Pathogenic	80359383	RCV000044171; RCV000113159;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911786	32911786	NM_000059.3:c.3294delT	NP_000050.2:p.Ser1099Glnfs	NC_000013.10:g.32911786delT	Breast Cancer Information Core (BRCA2):3522&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3296C>G (p.Ser1099Ter)	675	BRCA2	not provided	397507663	RCV000044172;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911788	32911788	NM_000059.3:c.3296C>G	NP_000050.2:p.Ser1099Ter	NC_000013.10:g.32911788C>A,NC_000013.10:g.32911788C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3301C>T (p.His1101Tyr)	675	BRCA2	Uncertain significance	80358576	RCV000044174; RCV000113160;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911793	32911793	NM_000059.3:c.3301C>T	NP_000050.2:p.His1101Tyr	NC_000013.10:g.32911793C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3304A>T (p.Asn1102Tyr)	675	BRCA2	Benign	28897719	RCV000044175; RCV000031414; RCV000212227; RCV000163002;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911796	32911796	NM_000059.3:c.3304A>T	NP_000050.2:p.Asn1102Tyr	NC_000013.10:g.32911796A>C,NC_000013.10:g.32911796A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3310A>C (p.Thr1104Pro)	675	BRCA2	Uncertain significance	80358577	RCV000160061; RCV000083097; RCV000044176; RCV000163592;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32911802	32911802	NM_000059.3:c.3310A>C	NP_000050.2:p.Thr1104Pro	NC_000013.10:g.32911802A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3319C>T (p.Gln1107Ter)	675	BRCA2	Pathogenic	80358578	RCV000044177; RCV000113162; RCV000162918;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911811	32911811	NM_000059.3:c.3319C>T	NP_000050.2:p.Gln1107Ter	NC_000013.10:g.32911811C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3326C>T (p.Ala1109Val)	675	BRCA2	Likely benign;Uncertain significance	41293479	RCV000044178; RCV000077301; RCV000203645; RCV000129186;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32911818	32911818	NM_000059.3:c.3326C>T	NP_000050.2:p.Ala1109Val	NC_000013.10:g.32911818C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3352_3356delTTAGA (p.Leu1118Argfs)	675	BRCA2	not provided	397507664	RCV000044179;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911844	32911848	NM_000059.3:c.3352_3356delTTAGA	NP_000050.2:p.Leu1118Argfs	NC_000013.10:g.32911844_32911848delTTAGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3354delA (p.Glu1119Lysfs)	675	BRCA2	Pathogenic	80359384	RCV000044180; RCV000113164;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911846	32911846	NM_000059.3:c.3354delA	NP_000050.2:p.Glu1119Lysfs	NC_000013.10:g.32911846delA	Breast Cancer Information Core (BRCA2):3582&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3362C>G (p.Ser1121Ter)	675	BRCA2	Pathogenic	80358579	RCV000044181; RCV000077302; RCV000219700; RCV000131100;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32911854	32911854	NM_000059.3:c.3362C>G	NP_000050.2:p.Ser1121Ter	NC_000013.10:g.32911854C>A,NC_000013.10:g.32911854C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.3366_3367delAA (p.Gln1124Valfs)	675	BRCA2	not provided	397507665	RCV000044182;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911858	32911859	NM_000059.3:c.3366_3367delAA	NP_000050.2:p.Gln1124Valfs	NC_000013.10:g.32911858_32911859delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3367A>G (p.Ser1123Gly)	675	BRCA2	Uncertain significance	80358581	RCV000044183; RCV000113166;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911859	32911859	NM_000059.3:c.3367A>G	NP_000050.2:p.Ser1123Gly	NC_000013.10:g.32911859A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3381delT (p.Phe1127Leufs)	675	BRCA2	Pathogenic	397507666	RCV000044184; RCV000113167;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911873	32911873	NM_000059.3:c.3381delT	NP_000050.2:p.Phe1127Leufs	NC_000013.10:g.32911873delT	Breast Cancer Information Core (BRCA2):3609&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3395A>G (p.Lys1132Arg)	675	BRCA2	Uncertain significance	80358582	RCV000044185; RCV000031419; RCV000218723;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911887	32911887	NM_000059.3:c.3395A>G	NP_000050.2:p.Lys1132Arg	NC_000013.10:g.32911887A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3396A>G (p.Lys1132=)	675	BRCA2	Benign	1801406	RCV000114982; RCV000113170; RCV000152873; RCV000130987;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911888	32911888	NM_000059.3:c.3396A>G	NP_000050.2:p.Lys1132=	NC_000013.10:g.32911888A>C,NC_000013.10:g.32911888A>G	Breast Cancer Information Core (BRCA2):3624&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3403T>C (p.Tyr1135His)	675	BRCA2	Uncertain significance	80358583	RCV000044186; RCV000113171;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911895	32911895	NM_000059.3:c.3403T>C	NP_000050.2:p.Tyr1135His	NC_000013.10:g.32911895T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3413A>T (p.Gln1138Leu)	675	BRCA2	Uncertain significance	80358584	RCV000044187; RCV000113173;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911905	32911905	NM_000059.3:c.3413A>T	NP_000050.2:p.Gln1138Leu	NC_000013.10:g.32911905A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3419G>C (p.Ser1140Thr)	675	BRCA2	Uncertain significance	80358585	RCV000044188; RCV000113174;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911911	32911911	NM_000059.3:c.3419G>C	NP_000050.2:p.Ser1140Thr	NC_000013.10:g.32911911G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3431T>G (p.Val1144Gly)	675	BRCA2	Likely benign;Uncertain significance	80358587	RCV000044191; RCV000083098; RCV000212228; RCV000129914;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911923	32911923	NM_000059.3:c.3431T>G	NP_000050.2:p.Val1144Gly	NC_000013.10:g.32911923T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3437A>G (p.Glu1146Gly)	675	BRCA2	Uncertain significance	80358588	RCV000044192; RCV000031421; RCV000129732;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911929	32911929	NM_000059.3:c.3437A>G	NP_000050.2:p.Glu1146Gly	NC_000013.10:g.32911929A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3442C>T (p.Gln1148Ter)	675	BRCA2	not provided	397507667	RCV000044194;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911934	32911934	NM_000059.3:c.3442C>T	NP_000050.2:p.Gln1148Ter	NC_000013.10:g.32911934C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3449_3450insAG (p.Ile1151Valfs)	675	BRCA2	not provided	397507668	RCV000044196;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911941	32911942	NM_000059.3:c.3449_3450insAG	NP_000050.2:p.Ile1151Valfs	NC_000013.10:g.32911941_32911942insAG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3451A>G (p.Ile1151Val)	675	BRCA2	Uncertain significance	80358591	RCV000044197; RCV000113178; RCV000214609;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911943	32911943	NM_000059.3:c.3451A>G	NP_000050.2:p.Ile1151Val	NC_000013.10:g.32911943A>C,NC_000013.10:g.32911943A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3452dupT (p.Thr1154Aspfs)	675	BRCA2	not provided	397507669	RCV000044198;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911944	32911944	NM_000059.3:c.3452dupT	NP_000050.2:p.Thr1154Aspfs	NC_000013.10:g.32911944dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3453C>G (p.Ile1151Met)	675	BRCA2	Likely benign;Uncertain significance	80358592	RCV000044199; RCV000031423; RCV000212229; RCV000132398;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911945	32911945	NM_000059.3:c.3453C>G	NP_000050.2:p.Ile1151Met	NC_000013.10:g.32911945C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3453delC (p.Leu1152Terfs)	675	BRCA2	not provided	397507670	RCV000044200;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911945	32911945	NM_000059.3:c.3453delC	NP_000050.2:p.Leu1152Terfs	NC_000013.10:g.32911945delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3455T>G (p.Leu1152Ter)	675	BRCA2	Pathogenic	80358593	RCV000044201; RCV000113180;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911947	32911947	NM_000059.3:c.3455T>G	NP_000050.2:p.Leu1152Ter	NC_000013.10:g.32911947T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3458A>G (p.Lys1153Arg)	675	BRCA2	Uncertain significance	80358594	RCV000044202; RCV000113181; RCV000129509;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911950	32911950	NM_000059.3:c.3458A>G	NP_000050.2:p.Lys1153Arg	NC_000013.10:g.32911950A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3465_3466delTT (p.Ser1156Terfs)	675	BRCA2	not provided	397507671	RCV000044203;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911957	32911958	NM_000059.3:c.3465_3466delTT	NP_000050.2:p.Ser1156Terfs	NC_000013.10:g.32911957_32911958delTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3469G>T (p.Glu1157Ter)	675	BRCA2	Pathogenic	80358595	RCV000044204; RCV000113183;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911961	32911961	NM_000059.3:c.3469G>T	NP_000050.2:p.Glu1157Ter	NC_000013.10:g.32911961G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3487delG (p.Asp1163Ilefs)	675	BRCA2	not provided	397507672	RCV000044205;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32911979	32911979	NM_000059.3:c.3487delG	NP_000050.2:p.Asp1163Ilefs	NC_000013.10:g.32911979delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3496G>A (p.Val1166Ile)	675	BRCA2	Uncertain significance	80358596	RCV000044206; RCV000113184;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32911988	32911988	NM_000059.3:c.3496G>A	NP_000050.2:p.Val1166Ile	NC_000013.10:g.32911988G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3499A>G (p.Ile1167Val)	675	BRCA2	Uncertain significance	276174834	RCV000044207; RCV000113185; RCV000212230;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32911991	32911991	NM_000059.3:c.3499A>G	NP_000050.2:p.Ile1167Val	NC_000013.10:g.32911991A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.3500_3501delTA (p.Ile1167Asnfs)	675	BRCA2	Pathogenic	80359387	RCV000044209; RCV000113186; RCV000221119;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32911992	32911993	NM_000059.3:c.3500_3501delTA	NP_000050.2:p.Ile1167Asnfs	NC_000013.10:g.32911992_32911993delTA	Breast Cancer Information Core (BRCA2):3728&base_change=del TA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3503T>A (p.Met1168Lys)	675	BRCA2	Uncertain significance	80358598	RCV000160065; RCV000083099; RCV000044210; RCV000163591;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32911995	32911995	NM_000059.3:c.3503T>A	NP_000050.2:p.Met1168Lys	NC_000013.10:g.32911995T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3509C>T (p.Ala1170Val)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358599	RCV000044211; RCV000031425; RCV000217936;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32912001	32912001	NM_000059.3:c.3509C>T	NP_000050.2:p.Ala1170Val	NC_000013.10:g.32912001C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=)	675	BRCA2	Benign;Likely benign	1799952	RCV000123964; RCV000113188; RCV000044214; RCV000168565; RCV000162494;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912008	32912008	NM_000059.3:c.3516G>A	NP_000050.2:p.Ser1172=	NC_000013.10:g.32912008G>A	Breast Cancer Information Core (BRCA2):3744&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3531_3534delCAGC (p.Asp1177Glufs)	675	BRCA2	not provided	397507673	RCV000044215;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912023	32912026	NM_000059.3:c.3531_3534delCAGC	NP_000050.2:p.Asp1177Glufs	NC_000013.10:g.32912023_32912026delCAGC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3536G>A (p.Ser1179Asn)	675	BRCA2	not provided	397507674	RCV000044216;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912028	32912028	NM_000059.3:c.3536G>A	NP_000050.2:p.Ser1179Asn	NC_000013.10:g.32912028G>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs)	675	BRCA2	Likely pathogenic;Pathogenic	80359388	RCV000074527; RCV000031427; RCV000044219; RCV000131093; RCV000210566;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C0950123; MedGen:C2675520,OMIM:612555	13	32912037	32912038	NM_000059.3:c.3545_3546delTT	NP_000050.2:p.Phe1182Terfs	NC_000013.10:g.32912037_32912038delTT	Breast Cancer Information Core (BRCA2):3773&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; C0950123 Inborn genetic diseases
NM_000059.3(BRCA2):c.3554_3555delCA (p.Thr1185Serfs)	675	BRCA2	Pathogenic	80359389	RCV000044220; RCV000113190;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912046	32912047	NM_000059.3:c.3554_3555delCA	NP_000050.2:p.Thr1185Serfs	NC_000013.10:g.32912046_32912047delCA	Breast Cancer Information Core (BRCA2):3782&base_change=del CA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3554_3563delCAGTTGAAAT (p.Thr1185Ilefs)	675	BRCA2	not provided	397507675	RCV000044221;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912046	32912055	NM_000059.3:c.3554_3563delCAGTTGAAAT	NP_000050.2:p.Thr1185Ilefs	NC_000013.10:g.32912046_32912055delCAGTTGAAAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3556_3565delGTTGAAATTA (p.Val1186Asnfs)	675	BRCA2	not provided	397507676	RCV000044222;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912048	32912057	NM_000059.3:c.3556_3565delGTTGAAATTA	NP_000050.2:p.Val1186Asnfs	NC_000013.10:g.32912048_32912057delGTTGAAATTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3569G>A (p.Arg1190Gln)	675	BRCA2	Likely benign;Uncertain significance	80358605	RCV000044224; RCV000031428; RCV000130051;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912061	32912061	NM_000059.3:c.3569G>A	NP_000050.2:p.Arg1190Gln	NC_000013.10:g.32912061G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3570delG (p.Lys1191Serfs)	675	BRCA2	Pathogenic	80359390	RCV000044225; RCV000113192;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912062	32912062	NM_000059.3:c.3570delG	NP_000050.2:p.Lys1191Serfs	NC_000013.10:g.32912062delG	Breast Cancer Information Core (BRCA2):3798&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys)	675	BRCA2	Likely benign;Uncertain significance	80358606	RCV000044226; RCV000077308; RCV000130786;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912067	32912067	NM_000059.3:c.3575T>G	NP_000050.2:p.Phe1192Cys	NC_000013.10:g.32912067T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3593delA (p.Asn1198Metfs)	675	BRCA2	not provided	397507677	RCV000044228;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912085	32912085	NM_000059.3:c.3593delA	NP_000050.2:p.Asn1198Metfs	NC_000013.10:g.32912085delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3598T>A (p.Cys1200Ser)	675	BRCA2	Uncertain significance	80358607	RCV000044229; RCV000113194;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912090	32912090	NM_000059.3:c.3598T>A	NP_000050.2:p.Cys1200Ser	NC_000013.10:g.32912090T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3599_3600delGT (p.Cys1200Terfs)	675	BRCA2	Pathogenic	80359391	RCV000044230; RCV000113196; RCV000195400; RCV000162919;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912091	32912092	NM_000059.3:c.3599_3600delGT	NP_000050.2:p.Cys1200Terfs	NC_000013.10:g.32912091_32912092delGT	Breast Cancer Information Core (BRCA2):3826&base_change=del TG,Breast Cancer Information Core (BRCA2):3827&base_change=del GT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3622T>A (p.Leu1208Ile)	675	BRCA2	Uncertain significance	80358608	RCV000044231; RCV000113198;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912114	32912114	NM_000059.3:c.3622T>A	NP_000050.2:p.Leu1208Ile	NC_000013.10:g.32912114T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3635A>T (p.Asn1212Ile)	675	BRCA2	Uncertain significance	80358609	RCV000044232; RCV000113199; RCV000166119;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912127	32912127	NM_000059.3:c.3635A>T	NP_000050.2:p.Asn1212Ile	NC_000013.10:g.32912127A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3638delA (p.Val1214Trpfs)	675	BRCA2	Pathogenic	80359394	RCV000044233; RCV000113200;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912130	32912130	NM_000059.3:c.3638delA	NP_000050.2:p.Val1214Trpfs	NC_000013.10:g.32912130delA	Breast Cancer Information Core (BRCA2):3866&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3641dupT (p.Phe1216Valfs)	675	BRCA2	not provided	397507678	RCV000044234;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912133	32912133	NM_000059.3:c.3641dupT	NP_000050.2:p.Phe1216Valfs	NC_000013.10:g.32912133dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3641delT (p.Val1214Glyfs)	675	BRCA2	Pathogenic	690016542	RCV000149515;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912133	32912133	NM_000059.3:c.3641delT	NP_000050.2:p.Val1214Glyfs	NC_000013.10:g.32912133delT	VariO:0043	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3645_3646delGTinsTAAAAAG (p.Phe1216Lysfs)	675	BRCA2	not provided	397507679	RCV000044235;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912137	32912138	NM_000059.3:c.3645_3646delGTinsTAAAAAG	NP_000050.2:p.Phe1216Lysfs	NC_000013.10:g.32912137_32912138delGTinsTAAAAAG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3655T>C (p.Phe1219Leu)	675	BRCA2	Uncertain significance	80358610	RCV000044237; RCV000113202;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912147	32912147	NM_000059.3:c.3655T>C	NP_000050.2:p.Phe1219Leu	NC_000013.10:g.32912147T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3661T>C (p.Ser1221Pro)	675	BRCA2	Likely benign;Uncertain significance	80358611	RCV000044238; RCV000077310; RCV000195368; RCV000132318;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912153	32912153	NM_000059.3:c.3661T>C	NP_000050.2:p.Ser1221Pro	NC_000013.10:g.32912153T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3677A>T (p.Lys1226Ile)	675	BRCA2	Uncertain significance	80358612	RCV000044240; RCV000113205; RCV000165157;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912169	32912169	NM_000059.3:c.3677A>T	NP_000050.2:p.Lys1226Ile	NC_000013.10:g.32912169A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3682_3685delAATG (p.Asn1228Phefs)	675	BRCA2	Pathogenic	80359396	RCV000044243; RCV000113206;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912174	32912177	NM_000059.3:c.3682_3685delAATG	NP_000050.2:p.Asn1228Phefs	NC_000013.10:g.32912174_32912177delAATG	Breast Cancer Information Core (BRCA2):3910&base_change=del AATG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3685delG (p.Val1229Phefs)	675	BRCA2	Pathogenic	80359397	RCV000044244; RCV000113207;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912177	32912177	NM_000059.3:c.3685delG	NP_000050.2:p.Val1229Phefs	NC_000013.10:g.32912177delG	Breast Cancer Information Core (BRCA2):3913&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3689delC (p.Ser1230Leufs)	675	BRCA2	Pathogenic	80359398	RCV000044245; RCV000031434; RCV000219035; RCV000129939;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32912181	32912181	NM_000059.3:c.3689delC	NP_000050.2:p.Ser1230Leufs	NC_000013.10:g.32912181delC	Breast Cancer Information Core (BRCA2):3917&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.3697G>A (p.Ala1233Thr)	675	BRCA2	Uncertain significance	80358613	RCV000044246; RCV000113208;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912189	32912189	NM_000059.3:c.3697G>A	NP_000050.2:p.Ala1233Thr	NC_000013.10:g.32912189G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3708dupA (p.Ala1237Serfs)	675	BRCA2	Pathogenic	398122769	RCV000160278; RCV000077713;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912200	32912200	NM_000059.3:c.3708dupA	NP_000050.2:p.Ala1237Serfs	NC_000013.10:g.32912200dupA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3723_3725delTAGinsAT (p.Phe1241Leufs)	675	BRCA2	not provided	397507682	RCV000044251;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912215	32912217	NM_000059.3:c.3723_3725delTAGinsAT	NP_000050.2:p.Phe1241Leufs	NC_000013.10:g.32912215_32912217delTAGinsAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3731T>C (p.Ile1244Thr)	675	BRCA2	Uncertain significance	730881526	RCV000160069; RCV000165364;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912223	32912223	NM_000059.3:c.3731T>C	NP_000050.2:p.Ile1244Thr	NC_000013.10:g.32912223T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3737delA (p.Asn1246Ilefs)	675	BRCA2	Pathogenic	80359402	RCV000044252; RCV000113211;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912229	32912229	NM_000059.3:c.3737delA	NP_000050.2:p.Asn1246Ilefs	NC_000013.10:g.32912229delA	Breast Cancer Information Core (BRCA2):3965&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3742A>C (p.Ser1248Arg)	675	BRCA2	Uncertain significance	80358614	RCV000044253; RCV000113212;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912234	32912234	NM_000059.3:c.3742A>C	NP_000050.2:p.Ser1248Arg	NC_000013.10:g.32912234A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3744_3747delTGAG (p.Ser1248Argfs)	675	BRCA2	Pathogenic	80359403	RCV000044254; RCV000031437; RCV000131096;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912236	32912239	NM_000059.3:c.3744_3747delTGAG	NP_000050.2:p.Ser1248Argfs	NC_000013.10:g.32912236_32912239delTGAG	Breast Cancer Information Core (BRCA2):3972&base_change=del TGAG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3748G>T (p.Glu1250Ter)	675	BRCA2	Pathogenic	80358615	RCV000044255; RCV000113213;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912240	32912240	NM_000059.3:c.3748G>T	NP_000050.2:p.Glu1250Ter	NC_000013.10:g.32912240G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3749A>G (p.Glu1250Gly)	675	BRCA2	Uncertain significance	56400215	RCV000044256; RCV000113214; RCV000212231; RCV000129769;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912241	32912241	NM_000059.3:c.3749A>G	NP_000050.2:p.Glu1250Gly	NC_000013.10:g.32912241A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3751dupA (p.Thr1251Asnfs)	675	BRCA2	Pathogenic	397507683	RCV000044257;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912243	32912243	NM_000059.3:c.3751dupA	NP_000050.2:p.Thr1251Asnfs	NC_000013.10:g.32912243dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3763G>T (p.Val1255Leu)	675	BRCA2	Uncertain significance	80358617	RCV000044259; RCV000077312;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912255	32912255	NM_000059.3:c.3763G>T	NP_000050.2:p.Val1255Leu	NC_000013.10:g.32912255G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3767A>C (p.His1256Pro)	675	BRCA2	Uncertain significance	80358618	RCV000044260; RCV000113216;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912259	32912259	NM_000059.3:c.3767A>C	NP_000050.2:p.His1256Pro	NC_000013.10:g.32912259A>C,NC_000013.10:g.32912259A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3767A>G (p.His1256Arg)	675	BRCA2	Uncertain significance	80358618	RCV000044261; RCV000113217;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912259	32912259	NM_000059.3:c.3767A>G	NP_000050.2:p.His1256Arg	NC_000013.10:g.32912259A>C,NC_000013.10:g.32912259A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3772delA (p.Ile1258Terfs)	675	BRCA2	not provided	397507684	RCV000044262;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912264	32912264	NM_000059.3:c.3772delA	NP_000050.2:p.Ile1258Terfs	NC_000013.10:g.32912264delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3773_3774delTA (p.Ile1258Lysfs)	675	BRCA2	not provided	397507685	RCV000044263;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912265	32912266	NM_000059.3:c.3773_3774delTA	NP_000050.2:p.Ile1258Lysfs	NC_000013.10:g.32912265_32912266delTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3778_3779delTT (p.Leu1260Ilefs)	675	BRCA2	not provided	397507686	RCV000044264;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912270	32912271	NM_000059.3:c.3778_3779delTT	NP_000050.2:p.Leu1260Ilefs	NC_000013.10:g.32912270_32912271delTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3782C>G (p.Ser1261Cys)	675	BRCA2	Uncertain significance	276174836	RCV000044265; RCV000113218;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912274	32912274	NM_000059.3:c.3782C>G	NP_000050.2:p.Ser1261Cys	NC_000013.10:g.32912274C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3785C>G (p.Ser1262Ter)	675	BRCA2	Pathogenic	80358620	RCV000044266; RCV000113219; RCV000129108;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912277	32912277	NM_000059.3:c.3785C>G	NP_000050.2:p.Ser1262Ter	NC_000013.10:g.32912277C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3807T>C (p.Val1269=)	675	BRCA2	Benign	543304	RCV000123965; RCV000113220; RCV000152874; RCV000130362;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912299	32912299	NM_000059.3:c.3807T>C	NP_000050.2:p.Val1269=	NC_000013.10:g.32912299T>C,NC_000013.10:g.32912299T>G	Breast Cancer Information Core (BRCA2):4035&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3812C>A (p.Ser1271Ter)	675	BRCA2	Pathogenic	80358623	RCV000044270; RCV000113222;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912304	32912304	NM_000059.3:c.3812C>A	NP_000050.2:p.Ser1271Ter	NC_000013.10:g.32912304C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3820_3823delAAGA (p.Lys1274Terfs)	675	BRCA2	Pathogenic	730881620	RCV000160315; RCV000217692;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32912312	32912315	NM_000059.3:c.3820_3823delAAGA	NP_000050.2:p.Lys1274Terfs	NC_000013.10:g.32912312_32912315delAAGA	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3824T>C (p.Ile1275Thr)	675	BRCA2	Uncertain significance	80358625	RCV000044272; RCV000083101; RCV000132466;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912316	32912316	NM_000059.3:c.3824T>C	NP_000050.2:p.Ile1275Thr	NC_000013.10:g.32912316T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3824_3827delTAGA (p.Ile1275Lysfs)	675	BRCA2	not provided	397507688	RCV000044273;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912316	32912319	NM_000059.3:c.3824_3827delTAGA	NP_000050.2:p.Ile1275Lysfs	NC_000013.10:g.32912316_32912319delTAGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3830delA (p.Asn1277Ilefs)	675	BRCA2	not provided	397507689	RCV000044274;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912322	32912322	NM_000059.3:c.3830delA	NP_000050.2:p.Asn1277Ilefs	NC_000013.10:g.32912322delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3835A>G (p.Asn1279Asp)	675	BRCA2	Uncertain significance	80358626	RCV000044275; RCV000077314; RCV000221261; RCV000130851;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912327	32912327	NM_000059.3:c.3835A>G	NP_000050.2:p.Asn1279Asp	NC_000013.10:g.32912327A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3836delA (p.Asn1279Metfs)	675	BRCA2	not provided	397507690	RCV000044276;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912328	32912328	NM_000059.3:c.3836delA	NP_000050.2:p.Asn1279Metfs	NC_000013.10:g.32912328delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3837delT (p.Asn1279Lysfs)	675	BRCA2	Pathogenic	80359404	RCV000044277; RCV000113223;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912329	32912329	NM_000059.3:c.3837delT	NP_000050.2:p.Asn1279Lysfs	NC_000013.10:g.32912329delT	Breast Cancer Information Core (BRCA2):4065&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3839A>T (p.Asp1280Val)	675	BRCA2	Benign	56337919	RCV000044278; RCV000077315; RCV000167824; RCV000168567; RCV000162783;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912331	32912331	NM_000059.3:c.3839A>T	NP_000050.2:p.Asp1280Val	NC_000013.10:g.32912331A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3847_3848delGT (p.Val1283Lysfs)	675	BRCA2	Pathogenic	80359405	RCV000160281; RCV000031440; RCV000044280; RCV000131095;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912339	32912340	NM_000059.3:c.3847_3848delGT	NP_000050.2:p.Val1283Lysfs	NC_000013.10:g.32912339_32912340delGT	Breast Cancer Information Core (BRCA2):4075&base_change=del GT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3847delG (p.Val1283Terfs)	675	BRCA2	not provided	397507691	RCV000044281;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912339	32912339	NM_000059.3:c.3847delG	NP_000050.2:p.Val1283Terfs	NC_000013.10:g.32912339delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3848T>G (p.Val1283Gly)	675	BRCA2	Uncertain significance	80358628	RCV000044282; RCV000113224;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912340	32912340	NM_000059.3:c.3848T>G	NP_000050.2:p.Val1283Gly	NC_000013.10:g.32912340T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3849_3852delAAGT (p.Ser1284Lysfs)	675	BRCA2	not provided	397507692	RCV000044283;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912341	32912344	NM_000059.3:c.3849_3852delAAGT	NP_000050.2:p.Ser1284Lysfs	NC_000013.10:g.32912341_32912344delAAGT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3856A>G (p.Lys1286Glu)	675	BRCA2	Uncertain significance	80358629	RCV000044284; RCV000113227;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912348	32912348	NM_000059.3:c.3856A>G	NP_000050.2:p.Lys1286Glu	NC_000013.10:g.32912348A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3858_3860delAAA (p.Lys1286del)	675	BRCA2	Benign;Likely benign;Uncertain significance	80359407	RCV000044285; RCV000031442; RCV000200063; RCV000131324;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912350	32912352	NM_000059.3:c.3858_3860delAAA	NP_000050.2:p.Lys1286del	NC_000013.10:g.32912350_32912352delAAA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3859_3860delAA (p.Asn1287Terfs)	675	BRCA2	Pathogenic	80359408	RCV000044286; RCV000113228; RCV000216461;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32912351	32912352	NM_000059.3:c.3859_3860delAA	NP_000050.2:p.Asn1287Terfs	NC_000013.10:g.32912351_32912352delAA	Breast Cancer Information Core (BRCA2):4087&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3860_3863delATAA (p.Asn1287Ilefs)	675	BRCA2	Pathogenic	80359410	RCV000044287; RCV000113230;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912352	32912355	NM_000059.3:c.3860_3863delATAA	NP_000050.2:p.Asn1287Ilefs	NC_000013.10:g.32912352_32912355delATAA	Breast Cancer Information Core (BRCA2):4088&base_change=del ATAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3860delA (p.Asn1287Ilefs)	675	BRCA2	Pathogenic	80359406	RCV000044288; RCV000077316; RCV000214509; RCV000212232; RCV000131539;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	13	32912352	32912352	NM_000059.3:c.3860delA	NP_000050.2:p.Asn1287Ilefs	NC_000013.10:g.32912352delA	Breast Cancer Information Core (BRCA2):4082&base_change=del A,Breast Cancer Information Core (BRCA2):4088&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.3860dupA (p.Asn1287Lysfs)	675	BRCA2	Pathogenic	80359409	RCV000044289; RCV000113229;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912352	32912352	NM_000059.3:c.3860dupA	NP_000050.2:p.Asn1287Lysfs	NC_000013.10:g.32912352dupA	Breast Cancer Information Core (BRCA2):4088&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3863dupA (p.Asn1288Lysfs)	675	BRCA2	not provided	397507693	RCV000044291;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912355	32912355	NM_000059.3:c.3863dupA	NP_000050.2:p.Asn1288Lysfs	NC_000013.10:g.32912355dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3866_3867delAA (p.Lys1289Metfs)	675	BRCA2	not provided	397507694	RCV000044293;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912358	32912359	NM_000059.3:c.3866_3867delAA	NP_000050.2:p.Lys1289Metfs	NC_000013.10:g.32912358_32912359delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr)	675	BRCA2	Benign	41293485	RCV000044294; RCV000113233; RCV000167839; RCV000120338; RCV000128895;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912361	32912361	NM_000059.3:c.3869G>A	NP_000050.2:p.Cys1290Tyr	NC_000013.10:g.32912361G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.3871C>T (p.Gln1291Ter)	675	BRCA2	Likely pathogenic;Pathogenic	80358631	RCV000044295; RCV000113234;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912363	32912363	NM_000059.3:c.3871C>T	NP_000050.2:p.Gln1291Ter	NC_000013.10:g.32912363C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3881T>A (p.Leu1294Ter)	675	BRCA2	Pathogenic	80358632	RCV000044296; RCV000113235;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912373	32912373	NM_000059.3:c.3881T>A	NP_000050.2:p.Leu1294Ter	NC_000013.10:g.32912373T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3887delA (p.Asn1296Ilefs)	675	BRCA2	not provided	397507695	RCV000044297;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912379	32912379	NM_000059.3:c.3887delA	NP_000050.2:p.Asn1296Ilefs	NC_000013.10:g.32912379delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3893T>C (p.Ile1298Thr)	675	BRCA2	Uncertain significance	80358633	RCV000044298; RCV000113236;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912385	32912385	NM_000059.3:c.3893T>C	NP_000050.2:p.Ile1298Thr	NC_000013.10:g.32912385T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3895_3897delGAA (p.Glu1299del)	675	BRCA2	not provided	397507696	RCV000044299;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912387	32912389	NM_000059.3:c.3895_3897delGAA	NP_000050.2:p.Glu1299del	NC_000013.10:g.32912387_32912389delGAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3900_3905delGACTAC (p.Met1300_Thr1302delinsIle)	675	BRCA2	Uncertain significance	80359413	RCV000044301; RCV000113237;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912392	32912397	NM_000059.3:c.3900_3905delGACTAC	NP_000050.2:p.Met1300_Thr1302delinsIle	NC_000013.10:g.32912392_32912397delGACTAC	Breast Cancer Information Core (BRCA2):4128&base_change=del GACTAC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3904_3906delACT (p.Thr1302del)	675	BRCA2	Pathogenic;Uncertain significance	80359414	RCV000044302; RCV000009909;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912396	32912398	NM_000059.3:c.3904_3906delACT	NP_000050.2:p.Thr1302del	NC_000013.10:g.32912396_32912398delACT	OMIM Allelic Variant:600185.0008	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3905C>A (p.Thr1302Asn)	675	BRCA2	Uncertain significance	80358634	RCV000044303; RCV000113238;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912397	32912397	NM_000059.3:c.3905C>A	NP_000050.2:p.Thr1302Asn	NC_000013.10:g.32912397C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3909C>A (p.Gly1303=)	675	BRCA2	Uncertain significance	80359786	RCV000044304; RCV000113239;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912401	32912401	NM_000059.3:c.3909C>A	NP_000050.2:p.Gly1303=	NC_000013.10:g.32912401C>A	Breast Cancer Information Core (BRCA2):4137&base_change=C to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3911delC (p.Thr1304Ilefs)	675	BRCA2	Pathogenic	80359415	RCV000044306; RCV000113240;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912403	32912403	NM_000059.3:c.3911delC	NP_000050.2:p.Thr1304Ilefs	NC_000013.10:g.32912403delC	Breast Cancer Information Core (BRCA2):4139&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3914T>C (p.Phe1305Ser)	675	BRCA2	Uncertain significance	80358635	RCV000044307; RCV000113241;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912406	32912406	NM_000059.3:c.3914T>C	NP_000050.2:p.Phe1305Ser	NC_000013.10:g.32912406T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3915delT (p.Phe1305Leufs)	675	BRCA2	Pathogenic	397507698	RCV000044308; RCV000162054;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912407	32912407	NM_000059.3:c.3915delT	NP_000050.2:p.Phe1305Leufs	NC_000013.10:g.32912407delT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3916G>A (p.Val1306Ile)	675	BRCA2	Benign	80358636	RCV000044309; RCV000031447; RCV000203660; RCV000162737;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912408	32912408	NM_000059.3:c.3916G>A	NP_000050.2:p.Val1306Ile	NC_000013.10:g.32912408G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3917T>C (p.Val1306Ala)	675	BRCA2	Uncertain significance	80358637	RCV000044310; RCV000113242;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912409	32912409	NM_000059.3:c.3917T>C	NP_000050.2:p.Val1306Ala	NC_000013.10:g.32912409T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3919delG (p.Glu1307Lysfs)	675	BRCA2	Pathogenic	80359416	RCV000044311; RCV000113243;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912411	32912411	NM_000059.3:c.3919delG	NP_000050.2:p.Glu1307Lysfs	NC_000013.10:g.32912411delG	Breast Cancer Information Core (BRCA2):4147&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3929delC (p.Thr1310Metfs)	675	BRCA2	not provided	397507699	RCV000044313;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912421	32912421	NM_000059.3:c.3929delC	NP_000050.2:p.Thr1310Metfs	NC_000013.10:g.32912421delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3936_3954del19 (p.Asn1312Lysfs)	675	BRCA2	not provided	397507700	RCV000044314;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912428	32912446	NM_000059.3:c.3936_3954del19	NP_000050.2:p.Asn1312Lysfs	NC_000013.10:g.32912428_32912446del19	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3938A>C (p.Tyr1313Ser)	675	BRCA2	Uncertain significance	80358639	RCV000044315; RCV000113244;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912430	32912430	NM_000059.3:c.3938A>C	NP_000050.2:p.Tyr1313Ser	NC_000013.10:g.32912430A>C,NC_000013.10:g.32912430A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3938A>G (p.Tyr1313Cys)	675	BRCA2	Uncertain significance	80358639	RCV000044316; RCV000113245;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912430	32912430	NM_000059.3:c.3938A>G	NP_000050.2:p.Tyr1313Cys	NC_000013.10:g.32912430A>C,NC_000013.10:g.32912430A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3939C>A (p.Tyr1313Ter)	675	BRCA2	Pathogenic	80358641	RCV000044317; RCV000113246;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912431	32912431	NM_000059.3:c.3939C>A	NP_000050.2:p.Tyr1313Ter	NC_000013.10:g.32912431C>A,NC_000013.10:g.32912431C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3939delC (p.Tyr1313Terfs)	675	BRCA2	Pathogenic	276174838	RCV000044318; RCV000113247;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912431	32912431	NM_000059.3:c.3939delC	NP_000050.2:p.Tyr1313Terfs	NC_000013.10:g.32912431delC	Breast Cancer Information Core (BRCA2):4167&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3944G>A (p.Arg1315Lys)	675	BRCA2	Uncertain significance	80358643	RCV000044319; RCV000113248;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912436	32912436	NM_000059.3:c.3944G>A	NP_000050.2:p.Arg1315Lys	NC_000013.10:g.32912436G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3956_3959delATGA (p.Asn1319Lysfs)	675	BRCA2	Pathogenic	80359417	RCV000044320; RCV000113250;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912448	32912451	NM_000059.3:c.3956_3959delATGA	NP_000050.2:p.Asn1319Lysfs	NC_000013.10:g.32912448_32912451delATGA	Breast Cancer Information Core (BRCA2):4184&base_change=del ATGA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3958G>T (p.Glu1320Ter)	675	BRCA2	Pathogenic	80358644	RCV000044321; RCV000113251;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912450	32912450	NM_000059.3:c.3958G>T	NP_000050.2:p.Glu1320Ter	NC_000013.10:g.32912450G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3962A>G (p.Asp1321Gly)	675	BRCA2	Uncertain significance	80358645	RCV000044322; RCV000113252; RCV000212233;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912454	32912454	NM_000059.3:c.3962A>G	NP_000050.2:p.Asp1321Gly	NC_000013.10:g.32912454A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.3965A>C (p.Asn1322Thr)	675	BRCA2	Uncertain significance	80358646	RCV000044323; RCV000113253; RCV000165691;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912457	32912457	NM_000059.3:c.3965A>C	NP_000050.2:p.Asn1322Thr	NC_000013.10:g.32912457A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3966_3968delCAA (p.Asn1322del)	675	BRCA2	Uncertain significance	397507319	RCV000160317; RCV000203852; RCV000166560;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	13	32912458	32912460	NM_000059.3:c.3966_3968delCAA	NP_000050.2:p.Asn1322del	NC_000013.10:g.32912458_32912460delCAA	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.3966C>G (p.Asn1322Lys)	675	BRCA2	Uncertain significance	80358647	RCV000044324; RCV000077317;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912458	32912458	NM_000059.3:c.3966C>G	NP_000050.2:p.Asn1322Lys	NC_000013.10:g.32912458C>G,NC_000013.10:g.32912458C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.3967A>T (p.Lys1323Ter)	675	BRCA2	Pathogenic	80358648	RCV000044325; RCV000113255; RCV000131094;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912459	32912459	NM_000059.3:c.3967A>T	NP_000050.2:p.Lys1323Ter	NC_000013.10:g.32912459A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4000_4001delTT (p.Leu1334Argfs)	675	BRCA2	Pathogenic	398122775	RCV000160282; RCV000077720;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912492	32912493	NM_000059.3:c.4000_4001delTT	NP_000050.2:p.Leu1334Argfs	NC_000013.10:g.32912492_32912493delTT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4001T>A (p.Leu1334Ter)	675	BRCA2	Pathogenic	80358652	RCV000044330; RCV000113257;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912493	32912493	NM_000059.3:c.4001T>A	NP_000050.2:p.Leu1334Ter	NC_000013.10:g.32912493T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4005dupA (p.Phe1336Ilefs)	675	BRCA2	not provided	397507701	RCV000044331;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912497	32912497	NM_000059.3:c.4005dupA	NP_000050.2:p.Phe1336Ilefs	NC_000013.10:g.32912497dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4021delT (p.Ser1341Glnfs)	675	BRCA2	not provided	397507702	RCV000044332;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912513	32912513	NM_000059.3:c.4021delT	NP_000050.2:p.Ser1341Glnfs	NC_000013.10:g.32912513delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4037_4038delCT (p.Thr1346Serfs)	675	BRCA2	Pathogenic	80359421	RCV000044334; RCV000077318;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912529	32912530	NM_000059.3:c.4037_4038delCT	NP_000050.2:p.Thr1346Serfs	NC_000013.10:g.32912529_32912530delCT	Breast Cancer Information Core (BRCA2):4265&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4039G>C (p.Val1347Leu)	675	BRCA2	Uncertain significance	80358653	RCV000044335; RCV000113264;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912531	32912531	NM_000059.3:c.4039G>C	NP_000050.2:p.Val1347Leu	NC_000013.10:g.32912531G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4046T>C (p.Ile1349Thr)	675	BRCA2	Benign	80358654	RCV000044336; RCV000113266; RCV000203650; RCV000163004;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912538	32912538	NM_000059.3:c.4046T>C	NP_000050.2:p.Ile1349Thr	NC_000013.10:g.32912538T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4048_4051delCATA (p.His1350Lysfs)	675	BRCA2	Pathogenic	80359423	RCV000044337; RCV000113268; RCV000218617;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32912540	32912543	NM_000059.3:c.4048_4051delCATA	NP_000050.2:p.His1350Lysfs	NC_000013.10:g.32912540_32912543delCATA	Breast Cancer Information Core (BRCA2):4276&base_change=del CATA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.4054G>T (p.Asp1352Tyr)	675	BRCA2	Uncertain significance	80358655	RCV000044338; RCV000031455;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912546	32912546	NM_000059.3:c.4054G>T	NP_000050.2:p.Asp1352Tyr	NC_000013.10:g.32912546G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=)	675	BRCA2	Benign;Likely benign;Uncertain significance	28897724	RCV000123968; RCV000113269; RCV000044340; RCV000168569; RCV000162367;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912560	32912560	NM_000059.3:c.4068G>A	NP_000050.2:p.Leu1356=	NC_000013.10:g.32912560G>A,NC_000013.10:g.32912560G>T	Breast Cancer Information Core (BRCA2):4296&base_change=G to A,Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.:IBR-5	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4076delC (p.Thr1359Metfs)	675	BRCA2	Pathogenic	80359424	RCV000044341; RCV000113270;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912568	32912568	NM_000059.3:c.4076delC	NP_000050.2:p.Thr1359Metfs	NC_000013.10:g.32912568delC	Breast Cancer Information Core (BRCA2):4304&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4089C>T (p.Asn1363=)	675	BRCA2	Uncertain significance	80359787	RCV000044343; RCV000113271;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912581	32912581	NM_000059.3:c.4089C>T	NP_000050.2:p.Asn1363=	NC_000013.10:g.32912581C>T	Breast Cancer Information Core (BRCA2):4317&base_change=C to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu)	675	BRCA2	Benign	56248502	RCV000123970; RCV000113272; RCV000044344; RCV000120319; RCV000131014;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912582	32912582	NM_000059.3:c.4090A>C	NP_000050.2:p.Ile1364Leu	NC_000013.10:g.32912582A>C,NC_000013.10:g.32912582A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4092_4093delAT (p.Ile1364Metfs)	675	BRCA2	Pathogenic	80359426	RCV000044345; RCV000031458; RCV000162920;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912584	32912585	NM_000059.3:c.4092_4093delAT	NP_000050.2:p.Ile1364Metfs	NC_000013.10:g.32912584_32912585delAT	Breast Cancer Information Core (BRCA2):4320&base_change=del AT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4094G>A (p.Cys1365Tyr)	675	BRCA2	Benign	80358657	RCV000160222; RCV000031459; RCV000044346; RCV000162841;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912586	32912586	NM_000059.3:c.4094G>A	NP_000050.2:p.Cys1365Tyr	NC_000013.10:g.32912586G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4095T>A (p.Cys1365Ter)	675	BRCA2	Pathogenic	80358658	RCV000044347; RCV000113273;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912587	32912587	NM_000059.3:c.4095T>A	NP_000050.2:p.Cys1365Ter	NC_000013.10:g.32912587T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4095delT (p.Lys1367Asnfs)	675	BRCA2	not provided	397507703	RCV000044348;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912587	32912587	NM_000059.3:c.4095delT	NP_000050.2:p.Lys1367Asnfs	NC_000013.10:g.32912587delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4097_4098insCATC (p.Lys1367Ilefs)	675	BRCA2	not provided	397507704	RCV000044349;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912589	32912590	NM_000059.3:c.4097_4098insCATC	NP_000050.2:p.Lys1367Ilefs	NC_000013.10:g.32912589_32912590insCATC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4101delA (p.Lys1367Asnfs)	675	BRCA2	not provided	397507705	RCV000044350;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912593	32912593	NM_000059.3:c.4101delA	NP_000050.2:p.Lys1367Asnfs	NC_000013.10:g.32912593delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4101dupA (p.Leu1368Ilefs)	675	BRCA2	not provided	397507706	RCV000044351;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912593	32912593	NM_000059.3:c.4101dupA	NP_000050.2:p.Leu1368Ilefs	NC_000013.10:g.32912593dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4111C>T (p.Gln1371Ter)	675	BRCA2	Pathogenic	80358659	RCV000044353; RCV000077320; RCV000131073;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912603	32912603	NM_000059.3:c.4111C>T	NP_000050.2:p.Gln1371Ter	NC_000013.10:g.32912603C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4112dupA (p.Phe1372Valfs)	675	BRCA2	Pathogenic	730881606	RCV000160283;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912604	32912604	NM_000059.3:c.4112dupA	NP_000050.2:p.Phe1372Valfs	NC_000013.10:g.32912604dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4121delA (p.Lys1374Argfs)	675	BRCA2	not provided	397507707	RCV000044354;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912613	32912613	NM_000059.3:c.4121delA	NP_000050.2:p.Lys1374Argfs	NC_000013.10:g.32912613delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4130delA (p.Asn1377Thrfs)	675	BRCA2	Pathogenic	80359428	RCV000044355; RCV000113275;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912622	32912622	NM_000059.3:c.4130delA	NP_000050.2:p.Asn1377Thrfs	NC_000013.10:g.32912622delA	Breast Cancer Information Core (BRCA2):4358&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4136dupA (p.Ile1380Aspfs)	675	BRCA2	not provided	397507708	RCV000044357;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912628	32912628	NM_000059.3:c.4136dupA	NP_000050.2:p.Ile1380Aspfs	NC_000013.10:g.32912628dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4137_4141delGATTA (p.Ile1380Argfs)	675	BRCA2	Pathogenic	80359431	RCV000044358; RCV000113278;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912629	32912633	NM_000059.3:c.4137_4141delGATTA	NP_000050.2:p.Ile1380Argfs	NC_000013.10:g.32912629_32912633delGATTA	Breast Cancer Information Core (BRCA2):4365&base_change=del GATTA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4139_4140dupTT (p.Lys1381Leufs)	675	BRCA2	Pathogenic	276174842	RCV000044359; RCV000113279; RCV000130775;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912631	32912632	NM_000059.3:c.4139_4140dupTT	NP_000050.2:p.Lys1381Leufs	NC_000013.10:g.32912631_32912632dupTT	Breast Cancer Information Core (BRCA2):4366&base_change=ins TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4141_4143delAAA (p.Lys1381del)	675	BRCA2	Uncertain significance	587782157	RCV000160284; RCV000130747;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912633	32912635	NM_000059.3:c.4141_4143delAAA	NP_000050.2:p.Lys1381del	NC_000013.10:g.32912633_32912635delAAA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4146_4148delAGA (p.Glu1382del)	675	BRCA2	Likely benign;Uncertain significance	80359432	RCV000044360; RCV000031464; RCV000129284;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912638	32912640	NM_000059.3:c.4146_4148delAGA	NP_000050.2:p.Glu1382del	NC_000013.10:g.32912638_32912640delAGA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4151delT (p.Leu1384Cysfs)	675	BRCA2	not provided	397507710	RCV000044361;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912643	32912643	NM_000059.3:c.4151delT	NP_000050.2:p.Leu1384Cysfs	NC_000013.10:g.32912643delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4163_4164delCTinsA (p.Thr1388Asnfs)	675	BRCA2	Pathogenic	276174843	RCV000044363; RCV000031466; RCV000203655;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912655	32912656	NM_000059.3:c.4163_4164delCTinsA	NP_000050.2:p.Thr1388Asnfs	NC_000013.10:g.32912655_32912656delCTinsA	Breast Cancer Information Core (BRCA2):4391&base_change=del CT ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_000059.3(BRCA2):c.4163C>A (p.Thr1388Asn)	675	BRCA2	Uncertain significance	28897725	RCV000044362; RCV000113281;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912655	32912655	NM_000059.3:c.4163C>A	NP_000050.2:p.Thr1388Asn	NC_000013.10:g.32912655C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4168_4169delTT (p.Leu1390Glyfs)	675	BRCA2	Pathogenic	730881607	RCV000160285;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912660	32912661	NM_000059.3:c.4168_4169delTT	NP_000050.2:p.Leu1390Glyfs	NC_000013.10:g.32912660_32912661delTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4169delT (p.Leu1390Trpfs)	675	BRCA2	Pathogenic	80359433	RCV000044364; RCV000113282;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912661	32912661	NM_000059.3:c.4169delT	NP_000050.2:p.Leu1390Trpfs	NC_000013.10:g.32912661delT	Breast Cancer Information Core (BRCA2):4397&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4171delG (p.Glu1391Lysfs)	675	BRCA2	not provided	397507711	RCV000044366;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912663	32912663	NM_000059.3:c.4171delG	NP_000050.2:p.Glu1391Lysfs	NC_000013.10:g.32912663delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4174G>A (p.Val1392Ile)	675	BRCA2	Uncertain significance	80358661	RCV000044367; RCV000113283; RCV000165447;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912666	32912666	NM_000059.3:c.4174G>A	NP_000050.2:p.Val1392Ile	NC_000013.10:g.32912666G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg)	675	BRCA2	Benign	55969723	RCV000074529; RCV000031467; RCV000044368; RCV000120320; RCV000162521;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912679	32912679	NM_000059.3:c.4187A>G	NP_000050.2:p.Gln1396Arg	NC_000013.10:g.32912679A>G	Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.:IBR-6	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4188delA (p.Glu1397Lysfs)	675	BRCA2	Pathogenic	80359434	RCV000044369; RCV000077321; RCV000132340;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912680	32912680	NM_000059.3:c.4188delA	NP_000050.2:p.Glu1397Lysfs	NC_000013.10:g.32912680delA	Breast Cancer Information Core (BRCA2):4416&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4218_4221delAGAA (p.Lys1406Asnfs)	675	BRCA2	Pathogenic	80359435	RCV000044372; RCV000113285;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912710	32912713	NM_000059.3:c.4218_4221delAGAA	NP_000050.2:p.Lys1406Asnfs	NC_000013.10:g.32912710_32912713delAGAA	Breast Cancer Information Core (BRCA2):4446&base_change=del AGAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4223delA (p.Gln1408Argfs)	675	BRCA2	not provided	397507712	RCV000044374;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912715	32912715	NM_000059.3:c.4223delA	NP_000050.2:p.Gln1408Argfs	NC_000013.10:g.32912715delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met)	675	BRCA2	Benign	70953664	RCV000044375; RCV000113286; RCV000167832; RCV000120327; RCV000162766;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912733	32912733	NM_000059.3:c.4241C>T	NP_000050.2:p.Thr1414Met	NC_000013.10:g.32912733C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4243G>T (p.Glu1415Ter)	675	BRCA2	Pathogenic	397507327	RCV000044376; RCV000031471; RCV000219707;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32912735	32912735	NM_000059.3:c.4243G>T	NP_000050.2:p.Glu1415Ter	NC_000013.10:g.32912735G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.4258delG (p.Asp1420Ilefs)	675	BRCA2	Likely pathogenic;Pathogenic	80359436	RCV000044378; RCV000077322; RCV000165445;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912750	32912750	NM_000059.3:c.4258delG	NP_000050.2:p.Asp1420Ilefs	NC_000013.10:g.32912750delG	Breast Cancer Information Core (BRCA2):4486&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4271delC (p.Ser1424Leufs)	675	BRCA2	Pathogenic	80359437	RCV000044385; RCV000113288;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912763	32912763	NM_000059.3:c.4271delC	NP_000050.2:p.Ser1424Leufs	NC_000013.10:g.32912763delC	Breast Cancer Information Core (BRCA2):4499&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4276dupA (p.Thr1426Asnfs)	675	BRCA2	Pathogenic	80359438	RCV000044386; RCV000031472; RCV000130745;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912768	32912768	NM_000059.3:c.4276dupA	NP_000050.2:p.Thr1426Asnfs	NC_000013.10:g.32912768dupA	Breast Cancer Information Core (BRCA2):4504&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4277delC (p.Thr1426Asnfs)	675	BRCA2	Pathogenic	730881608	RCV000160286;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912769	32912769	NM_000059.3:c.4277delC	NP_000050.2:p.Thr1426Asnfs	NC_000013.10:g.32912769delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4279T>A (p.Phe1427Ile)	675	BRCA2	Uncertain significance	730881531	RCV000160076;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912771	32912771	NM_000059.3:c.4279T>A	NP_000050.2:p.Phe1427Ile	NC_000013.10:g.32912771T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4284dupT (p.Gln1429Serfs)	675	BRCA2	Likely pathogenic;Pathogenic	80359439	RCV000160287; RCV000031473; RCV000044387; RCV000130074;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32912776	32912776	-	-	NC_000013.10:g.32912776dupT	Breast Cancer Information Core (BRCA2):4510&base_change=ins T,Breast Cancer Information Core (BRCA2):4512&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4285C>T (p.Gln1429Ter)	675	BRCA2	Pathogenic	80358665	RCV000044388; RCV000113290; RCV000219511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32912777	32912777	NM_000059.3:c.4285C>T	NP_000050.2:p.Gln1429Ter	NC_000013.10:g.32912777C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.4301A>T (p.Lys1434Ile)	675	BRCA2	Likely benign	397507714	RCV000044389; RCV000131680;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912793	32912793	NM_000059.3:c.4301A>T	NP_000050.2:p.Lys1434Ile	NC_000013.10:g.32912793A>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4314delC (p.Ala1439Profs)	675	BRCA2	Pathogenic	80359441	RCV000044390; RCV000113291;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912806	32912806	NM_000059.3:c.4314delC	NP_000050.2:p.Ala1439Profs	NC_000013.10:g.32912806delC	Breast Cancer Information Core (BRCA2):4542&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4315G>A (p.Ala1439Thr)	675	BRCA2	Uncertain significance	80358666	RCV000044391; RCV000113292; RCV000129972;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912807	32912807	NM_000059.3:c.4315G>A	NP_000050.2:p.Ala1439Thr	NC_000013.10:g.32912807G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4316C>A (p.Ala1439Asp)	675	BRCA2	Uncertain significance	80358667	RCV000044392; RCV000031474; RCV000212234; RCV000131416;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912808	32912808	NM_000059.3:c.4316C>A	NP_000050.2:p.Ala1439Asp	NC_000013.10:g.32912808C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4318A>G (p.Lys1440Glu)	675	BRCA2	Uncertain significance	80358668	RCV000044393; RCV000113293; RCV000130424;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912810	32912810	NM_000059.3:c.4318A>G	NP_000050.2:p.Lys1440Glu	NC_000013.10:g.32912810A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4319A>G (p.Lys1440Arg)	675	BRCA2	Uncertain significance	80358669	RCV000044394; RCV000113294; RCV000130008;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912811	32912811	NM_000059.3:c.4319A>G	NP_000050.2:p.Lys1440Arg	NC_000013.10:g.32912811A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4325C>A (p.Ser1442Ter)	675	BRCA2	Pathogenic	80358670	RCV000044395; RCV000113295;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912817	32912817	NM_000059.3:c.4325C>A	NP_000050.2:p.Ser1442Ter	NC_000013.10:g.32912817C>A,NC_000013.10:g.32912817C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4339delG (p.Val1447Terfs)	675	BRCA2	Pathogenic	80359443	RCV000044396; RCV000113297;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912831	32912831	NM_000059.3:c.4339delG	NP_000050.2:p.Val1447Terfs	NC_000013.10:g.32912831delG	Breast Cancer Information Core (BRCA2):4567&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4352A>G (p.Asp1451Gly)	675	BRCA2	Uncertain significance	80358671	RCV000044398; RCV000113298;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912844	32912844	NM_000059.3:c.4352A>G	NP_000050.2:p.Asp1451Gly	NC_000013.10:g.32912844A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4372C>T (p.His1458Tyr)	675	BRCA2	Uncertain significance	80358672	RCV000044399; RCV000077323; RCV000216745;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32912864	32912864	NM_000059.3:c.4372C>T	NP_000050.2:p.His1458Tyr	NC_000013.10:g.32912864C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.4377C>G (p.Asn1459Lys)	675	BRCA2	Uncertain significance	80358673	RCV000044401; RCV000113299;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912869	32912869	NM_000059.3:c.4377C>G	NP_000050.2:p.Asn1459Lys	NC_000013.10:g.32912869C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4380_4381delTT (p.Ser1461Leufs)	675	BRCA2	not provided	397507715	RCV000044402;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912872	32912873	NM_000059.3:c.4380_4381delTT	NP_000050.2:p.Ser1461Leufs	NC_000013.10:g.32912872_32912873delTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4405_4409delGACAT (p.Asp1469Lysfs)	675	BRCA2	Pathogenic	397507331	RCV000160289; RCV000031480;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912897	32912901	NM_000059.3:c.4405_4409delGACAT	NP_000050.2:p.Asp1469Lysfs	NC_000013.10:g.32912897_32912901delGACAT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4409_4410delTA (p.Ile1470Lysfs)	675	BRCA2	Pathogenic	80359446	RCV000044406; RCV000113300;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912901	32912902	NM_000059.3:c.4409_4410delTA	NP_000050.2:p.Ile1470Lysfs	NC_000013.10:g.32912901_32912902delTA	Breast Cancer Information Core (BRCA2):4637&base_change=del TA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4409_4413delTAAGA (p.Ile1470Lysfs)	675	BRCA2	not provided	397507718	RCV000044407;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912901	32912905	NM_000059.3:c.4409_4413delTAAGA	NP_000050.2:p.Ile1470Lysfs	NC_000013.10:g.32912901_32912905delTAAGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4414_4415delAA (p.Lys1472Glufs)	675	BRCA2	Pathogenic	397507332	RCV000044409; RCV000031482;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912906	32912907	NM_000059.3:c.4414_4415delAA	NP_000050.2:p.Lys1472Glufs	NC_000013.10:g.32912906_32912907delAA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4423delA (p.Met1475Trpfs)	675	BRCA2	Pathogenic	80359447	RCV000044412; RCV000113302;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912915	32912915	NM_000059.3:c.4423delA	NP_000050.2:p.Met1475Trpfs	NC_000013.10:g.32912915delA	Breast Cancer Information Core (BRCA2):4651&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4440T>G (p.Tyr1480Ter)	675	BRCA2	Pathogenic	397507719	RCV000044415; RCV000222409;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	13	32912932	32912932	NM_000059.3:c.4440T>G	NP_000050.2:p.Tyr1480Ter	NC_000013.10:g.32912932T>G	-	C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.4449delA (p.Asp1484Thrfs)	675	BRCA2	Pathogenic	80359448	RCV000044416; RCV000031485; RCV000163360;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912941	32912941	NM_000059.3:c.4449delA	NP_000050.2:p.Asp1484Thrfs	NC_000013.10:g.32912941delA	Breast Cancer Information Core (BRCA2):4677&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4456_4459delGTTA (p.Val1486Asnfs)	675	BRCA2	Pathogenic	80359449	RCV000044417; RCV000083106; RCV000222405; RCV000212235;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	13	32912948	32912951	NM_000059.3:c.4456_4459delGTTA	NP_000050.2:p.Val1486Asnfs	NC_000013.10:g.32912948_32912951delGTTA	Breast Cancer Information Core (BRCA2):4682&base_change=del TAGT,Breast Cancer Information Core (BRCA2):4684&base_change=del GTTA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.4464_4465delCA (p.His1488Glnfs)	675	BRCA2	not provided	397507720	RCV000044418;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32912956	32912957	NM_000059.3:c.4464_4465delCA	NP_000050.2:p.His1488Glnfs	NC_000013.10:g.32912956_32912957delCA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4480dupA (p.Ser1494Lysfs)	675	BRCA2	Pathogenic	80359453	RCV000044422; RCV000113306;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912972	32912972	NM_000059.3:c.4480dupA	NP_000050.2:p.Ser1494Lysfs	NC_000013.10:g.32912972dupA	Breast Cancer Information Core (BRCA2):4705&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4483G>A (p.Val1495Ile)	675	BRCA2	Uncertain significance	80358680	RCV000044423; RCV000113309; RCV000212236; RCV000131290;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32912975	32912975	NM_000059.3:c.4483G>A	NP_000050.2:p.Val1495Ile	NC_000013.10:g.32912975G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4490T>A (p.Val1497Asp)	675	BRCA2	Uncertain significance	80358681	RCV000044424; RCV000083107;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32912982	32912982	NM_000059.3:c.4490T>A	NP_000050.2:p.Val1497Asp	NC_000013.10:g.32912982T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4513A>G (p.Thr1505Ala)	675	BRCA2	Uncertain significance	80358682	RCV000044426; RCV000113310;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913005	32913005	NM_000059.3:c.4513A>G	NP_000050.2:p.Thr1505Ala	NC_000013.10:g.32913005A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4525C>T (p.Gln1509Ter)	675	BRCA2	Pathogenic	80358683	RCV000044427; RCV000113311;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913017	32913017	NM_000059.3:c.4525C>T	NP_000050.2:p.Gln1509Ter	NC_000013.10:g.32913017C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4534C>T (p.Arg1512Cys)	675	BRCA2	Uncertain significance	80358684	RCV000044428; RCV000113312; RCV000130950;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913026	32913026	NM_000059.3:c.4534C>T	NP_000050.2:p.Arg1512Cys	NC_000013.10:g.32913026C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His)	675	BRCA2	Uncertain significance	80358685	RCV000044429; RCV000113313; RCV000167383;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913027	32913027	NM_000059.3:c.4535G>A	NP_000050.2:p.Arg1512His	NC_000013.10:g.32913027G>A,NC_000013.10:g.32913027G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4535delG (p.Arg1512Leufs)	675	BRCA2	not provided	397507723	RCV000044430;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913027	32913027	NM_000059.3:c.4535delG	NP_000050.2:p.Arg1512Leufs	NC_000013.10:g.32913027delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4536_4539dupTGAT (p.Glu1514Terfs)	675	BRCA2	not provided	397507724	RCV000044431;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913028	32913031	NM_000059.3:c.4536_4539dupTGAT	NP_000050.2:p.Glu1514Terfs	NC_000013.10:g.32913028_32913031dupTGAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4537G>A (p.Asp1513Asn)	675	BRCA2	Uncertain significance	80358687	RCV000044432; RCV000113315;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913029	32913029	NM_000059.3:c.4537G>A	NP_000050.2:p.Asp1513Asn	NC_000013.10:g.32913029G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4539T>A (p.Asp1513Glu)	675	BRCA2	Uncertain significance	80358688	RCV000044433; RCV000113316;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913031	32913031	NM_000059.3:c.4539T>A	NP_000050.2:p.Asp1513Glu	NC_000013.10:g.32913031T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4544delA (p.Lys1515Argfs)	675	BRCA2	not provided	397507725	RCV000044434;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913036	32913036	NM_000059.3:c.4544delA	NP_000050.2:p.Lys1515Argfs	NC_000013.10:g.32913036delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4546dupA (p.Ile1516Asnfs)	675	BRCA2	Pathogenic	80359456	RCV000044435; RCV000113317;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913038	32913038	NM_000059.3:c.4546dupA	NP_000050.2:p.Ile1516Asnfs	NC_000013.10:g.32913038dupA	Breast Cancer Information Core (BRCA2):4773&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4547T>A (p.Ile1516Asn)	675	BRCA2	Uncertain significance	80358689	RCV000044436; RCV000113318;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913039	32913039	NM_000059.3:c.4547T>A	NP_000050.2:p.Ile1516Asn	NC_000013.10:g.32913039T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4551_4554delAGAA (p.Lys1517Asnfs)	675	BRCA2	Pathogenic	80359457	RCV000044437; RCV000077328; RCV000131070;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913043	32913046	NM_000059.3:c.4551_4554delAGAA	NP_000050.2:p.Lys1517Asnfs	NC_000013.10:g.32913043_32913046delAGAA	Breast Cancer Information Core (BRCA2):4779&base_change=del AGAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4552G>T (p.Glu1518Ter)	675	BRCA2	not provided	397507727	RCV000044438;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913044	32913044	NM_000059.3:c.4552G>T	NP_000050.2:p.Glu1518Ter	NC_000013.10:g.32913044G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4554delA (p.Glu1518Aspfs)	675	BRCA2	Pathogenic	80359458	RCV000044439; RCV000113319;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913046	32913046	NM_000059.3:c.4554delA	NP_000050.2:p.Glu1518Aspfs	NC_000013.10:g.32913046delA	Breast Cancer Information Core (BRCA2):4782&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4556delC (p.Pro1519Leufs)	675	BRCA2	not provided	397507728	RCV000044440;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913048	32913048	NM_000059.3:c.4556delC	NP_000050.2:p.Pro1519Leufs	NC_000013.10:g.32913048delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4558A>G (p.Thr1520Ala)	675	BRCA2	Uncertain significance	80358690	RCV000044441; RCV000113320;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913050	32913050	NM_000059.3:c.4558A>G	NP_000050.2:p.Thr1520Ala	NC_000013.10:g.32913050A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4566G>T (p.Leu1522Phe)	675	BRCA2	not provided	397507729	RCV000044443;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913058	32913058	NM_000059.3:c.4566G>T	NP_000050.2:p.Leu1522Phe	NC_000013.10:g.32913058G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4570T>G (p.Phe1524Val)	675	BRCA2	Benign	56386506	RCV000044444; RCV000083108; RCV000167796; RCV000163006;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32913062	32913062	NM_000059.3:c.4570T>G	NP_000050.2:p.Phe1524Val	NC_000013.10:g.32913062T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4588A>T (p.Lys1530Ter)	675	BRCA2	Pathogenic	80358692	RCV000044447; RCV000077329; RCV000212238; RCV000162921;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32913080	32913080	NM_000059.3:c.4588A>T	NP_000050.2:p.Lys1530Ter	NC_000013.10:g.32913080A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.4589A>G (p.Lys1530Arg)	675	BRCA2	Uncertain significance	397507730	RCV000044448; RCV000218367;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913081	32913081	NM_000059.3:c.4589A>G	NP_000050.2:p.Lys1530Arg	NC_000013.10:g.32913081A>G	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.4593delA (p.Val1532Leufs)	675	BRCA2	not provided	397507731	RCV000044449;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913085	32913085	NM_000059.3:c.4593delA	NP_000050.2:p.Val1532Leufs	NC_000013.10:g.32913085delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4593dupA (p.Val1532Serfs)	675	BRCA2	Pathogenic	397507732	RCV000044450; RCV000077731;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913085	32913085	NM_000059.3:c.4593dupA	NP_000050.2:p.Val1532Serfs	NC_000013.10:g.32913085dupA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4594G>T (p.Val1532Phe)	675	BRCA2	Uncertain significance	80358693	RCV000044451; RCV000031492;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913086	32913086	NM_000059.3:c.4594G>T	NP_000050.2:p.Val1532Phe	NC_000013.10:g.32913086G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn)	675	BRCA2	Likely benign;Uncertain significance	80358694	RCV000044452; RCV000077330; RCV000212237; RCV000129285;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32913091	32913091	NM_000059.3:c.4599A>C	NP_000050.2:p.Lys1533Asn	NC_000013.10:g.32913091A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4631dupA (p.Asn1544Lysfs)	675	BRCA2	Pathogenic	80359460	RCV000044456; RCV000031493; RCV000132322;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913123	32913123	NM_000059.3:c.4631dupA	NP_000050.2:p.Asn1544Lysfs	NC_000013.10:g.32913123dupA	Breast Cancer Information Core (BRCA2):4859&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4638dupT (p.Asp1547Terfs)	675	BRCA2	not provided	397507733	RCV000044458;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913130	32913130	NM_000059.3:c.4638dupT	NP_000050.2:p.Asp1547Terfs	NC_000013.10:g.32913130dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4647_4650delAGAG (p.Lys1549Asnfs)	675	BRCA2	Pathogenic	397507734	RCV000044459; RCV000165672;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913139	32913142	NM_000059.3:c.4647_4650delAGAG	NP_000050.2:p.Lys1549Asnfs	NC_000013.10:g.32913139_32913142delAGAG	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4648G>T (p.Glu1550Ter)	675	BRCA2	Pathogenic	80358695	RCV000044460; RCV000113326; RCV000009935;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1838457,OMIM:605724,ORPHA:319462; MedGen:C2675520,OMIM:612555	13	32913140	32913140	NM_000059.3:c.4648G>T	NP_000050.2:p.Glu1550Ter	NC_000013.10:g.32913140G>T	OMIM Allelic Variant:600185.0029	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C1838457 605724 Fanconi anemia, complementation group D1
NM_000059.3(BRCA2):c.4655G>T (p.Gly1552Val)	675	BRCA2	Uncertain significance	80358696	RCV000044462; RCV000113327;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913147	32913147	NM_000059.3:c.4655G>T	NP_000050.2:p.Gly1552Val	NC_000013.10:g.32913147G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4658C>T (p.Thr1553Ile)	675	BRCA2	Uncertain significance	80358697	RCV000044464; RCV000113329;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913150	32913150	NM_000059.3:c.4658C>T	NP_000050.2:p.Thr1553Ile	NC_000013.10:g.32913150C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4662T>G (p.Ser1554Arg)	675	BRCA2	Uncertain significance	276174845	RCV000044465; RCV000077332; RCV000212239; RCV000166993;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32913154	32913154	NM_000059.3:c.4662T>G	NP_000050.2:p.Ser1554Arg	NC_000013.10:g.32913154T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn)	675	BRCA2	Benign;Uncertain significance	2219594	RCV000123976; RCV000077334; RCV000044469; RCV000120328; RCV000128957;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32913173	32913173	NM_000059.3:c.4681C>A	NP_000050.2:p.His1561Asn	NC_000013.10:g.32913173C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.4684C>T (p.Gln1562Ter)	675	BRCA2	not provided	397507737	RCV000044470;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913176	32913176	NM_000059.3:c.4684C>T	NP_000050.2:p.Gln1562Ter	NC_000013.10:g.32913176C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4695_4698dupGACC (p.Leu1567Aspfs)	675	BRCA2	not provided	397507738	RCV000044471;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913187	32913190	NM_000059.3:c.4695_4698dupGACC	NP_000050.2:p.Leu1567Aspfs	NC_000013.10:g.32913187_32913190dupGACC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4703A>G (p.Lys1568Arg)	675	BRCA2	Uncertain significance	80358699	RCV000044473; RCV000113334; RCV000213170;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913195	32913195	NM_000059.3:c.4703A>G	NP_000050.2:p.Lys1568Arg	NC_000013.10:g.32913195A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.4712_4713delAG (p.Glu1571Glyfs)	675	BRCA2	Pathogenic	80359464	RCV000044474; RCV000031500; RCV000213951; RCV000164613;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32913204	32913205	NM_000059.3:c.4712_4713delAG	NP_000050.2:p.Glu1571Glyfs	NC_000013.10:g.32913204_32913205delAG	Breast Cancer Information Core (BRCA2):4936&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.4730dupA (p.Leu1578Ilefs)	675	BRCA2	not provided	397507740	RCV000044477;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913222	32913222	NM_000059.3:c.4730dupA	NP_000050.2:p.Leu1578Ilefs	NC_000013.10:g.32913222dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4731_4736delATTAGCinsG (p.Leu1578Metfs)	675	BRCA2	Pathogenic	276174846	RCV000044478; RCV000113338; RCV000223243;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913223	32913228	NM_000059.3:c.4731_4736delATTAGCinsG	NP_000050.2:p.Leu1578Metfs	NC_000013.10:g.32913223_32913228delATTAGCinsG	Breast Cancer Information Core (BRCA2):4959&base_change=del ATTAGC ins G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.4732T>G (p.Leu1578Val)	675	BRCA2	Uncertain significance	80358700	RCV000044479; RCV000113339;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913224	32913224	NM_000059.3:c.4732T>G	NP_000050.2:p.Leu1578Val	NC_000013.10:g.32913224T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4742_4743insTG (p.Glu1581Aspfs)	675	BRCA2	Pathogenic	276174847	RCV000044481; RCV000113340;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913234	32913235	NM_000059.3:c.4742_4743insTG	NP_000050.2:p.Glu1581Aspfs	NC_000013.10:g.32913234_32913235insTG	Breast Cancer Information Core (BRCA2):4970&base_change=ins TG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4766delC (p.Pro1589Glnfs)	675	BRCA2	not provided	397507741	RCV000044490;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913258	32913258	NM_000059.3:c.4766delC	NP_000050.2:p.Pro1589Glnfs	NC_000013.10:g.32913258delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4779A>C (p.Glu1593Asp)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358703	RCV000044491; RCV000113341; RCV000034442; RCV000120321; RCV000129760;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32913271	32913271	NM_000059.3:c.4779A>C	NP_000050.2:p.Glu1593Asp	NC_000013.10:g.32913271A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.4780delA (p.Met1594Cysfs)	675	BRCA2	Pathogenic	397507742	RCV000044492; RCV000164279;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913272	32913272	NM_000059.3:c.4780delA	NP_000050.2:p.Met1594Cysfs	NC_000013.10:g.32913272delA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4797delT (p.Asn1599Lysfs)	675	BRCA2	Pathogenic	80359465	RCV000044493; RCV000113342;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913289	32913289	NM_000059.3:c.4797delT	NP_000050.2:p.Asn1599Lysfs	NC_000013.10:g.32913289delT	Breast Cancer Information Core (BRCA2):5025&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4798_4800delAAT (p.Asn1600del)	675	BRCA2	Uncertain significance	276174851	RCV000044494; RCV000113343;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913290	32913292	NM_000059.3:c.4798_4800delAAT	NP_000050.2:p.Asn1600del	NC_000013.10:g.32913290_32913292delAAT	Breast Cancer Information Core (BRCA2):5026&base_change=del AAT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4801_4803delGAT (p.Asp1601del)	675	BRCA2	Uncertain significance	730881609	RCV000160291;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913293	32913295	NM_000059.3:c.4801_4803delGAT	NP_000050.2:p.Asp1601del	NC_000013.10:g.32913293_32913295delGAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4802A>G (p.Asp1601Gly)	675	BRCA2	Uncertain significance	80358704	RCV000044495; RCV000113344;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913294	32913294	NM_000059.3:c.4802A>G	NP_000050.2:p.Asp1601Gly	NC_000013.10:g.32913294A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4808delA (p.Asn1603Thrfs)	675	BRCA2	not provided	397507743	RCV000044496;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913300	32913300	NM_000059.3:c.4808delA	NP_000050.2:p.Asn1603Thrfs	NC_000013.10:g.32913300delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4808dupA (p.Asn1603Lysfs)	675	BRCA2	Pathogenic	80359466	RCV000044497; RCV000113345;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913300	32913300	NM_000059.3:c.4808dupA	NP_000050.2:p.Asn1603Lysfs	NC_000013.10:g.32913300dupA	Breast Cancer Information Core (BRCA2):5036&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4824_4825delGA (p.Glu1608Aspfs)	675	BRCA2	Pathogenic	730881610	RCV000160292;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913316	32913317	NM_000059.3:c.4824_4825delGA	NP_000050.2:p.Glu1608Aspfs	NC_000013.10:g.32913316_32913317delGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358705	RCV000074530; RCV000031508; RCV000044498; RCV000130783;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32913320	32913320	NM_000059.3:c.4828G>A	NP_000050.2:p.Val1610Met	NC_000013.10:g.32913320G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4828dupG (p.Val1610Glyfs)	675	BRCA2	not provided	397507744	RCV000044499;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913320	32913320	NM_000059.3:c.4828dupG	NP_000050.2:p.Val1610Glyfs	NC_000013.10:g.32913320dupG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4829_4830delTG (p.Val1610Glyfs)	675	BRCA2	Pathogenic	80359468	RCV000044500; RCV000077338; RCV000217237; RCV000162922;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32913321	32913322	NM_000059.3:c.4829_4830delTG	NP_000050.2:p.Val1610Glyfs	NC_000013.10:g.32913321_32913322delTG	Breast Cancer Information Core (BRCA2):5057&base_change=del TG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.4830G>A (p.Val1610=)	675	BRCA2	Uncertain significance	80359789	RCV000044501; RCV000113348;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913322	32913322	NM_000059.3:c.4830G>A	NP_000050.2:p.Val1610=	NC_000013.10:g.32913322G>A,NC_000013.10:g.32913322G>T	Breast Cancer Information Core (BRCA2):5058&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4840A>G (p.Lys1614Glu)	675	BRCA2	Uncertain significance	80358706	RCV000044503; RCV000113349;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913332	32913332	NM_000059.3:c.4840A>G	NP_000050.2:p.Lys1614Glu	NC_000013.10:g.32913332A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4845_4846delCT (p.Leu1616Lysfs)	675	BRCA2	Pathogenic	80359469	RCV000044504; RCV000113350;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913337	32913338	NM_000059.3:c.4845_4846delCT	NP_000050.2:p.Leu1616Lysfs	NC_000013.10:g.32913337_32913338delCT	Breast Cancer Information Core (BRCA2):5073&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4848_4849delAA (p.Ser1617Terfs)	675	BRCA2	not provided	397507746	RCV000044505;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913340	32913341	NM_000059.3:c.4848_4849delAA	NP_000050.2:p.Ser1617Terfs	NC_000013.10:g.32913340_32913341delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4849A>C (p.Ser1617Arg)	675	BRCA2	Uncertain significance	80358707	RCV000044506; RCV000113351; RCV000165988;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913341	32913341	NM_000059.3:c.4849A>C	NP_000050.2:p.Ser1617Arg	NC_000013.10:g.32913341A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4854T>A (p.Asp1618Glu)	675	BRCA2	Uncertain significance	80358708	RCV000044507; RCV000077339; RCV000222179;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913346	32913346	NM_000059.3:c.4854T>A	NP_000050.2:p.Asp1618Glu	NC_000013.10:g.32913346T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.4856A>G (p.Asn1619Ser)	675	BRCA2	Uncertain significance	80358709	RCV000044508; RCV000113352;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913348	32913348	NM_000059.3:c.4856A>G	NP_000050.2:p.Asn1619Ser	NC_000013.10:g.32913348A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4859T>G (p.Leu1620Ter)	675	BRCA2	Pathogenic	80358710	RCV000044509; RCV000113353;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913351	32913351	NM_000059.3:c.4859T>G	NP_000050.2:p.Leu1620Ter	NC_000013.10:g.32913351T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4889C>A (p.Ser1630Ter)	675	BRCA2	not provided	80358711	RCV000044511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913381	32913381	NM_000059.3:c.4889C>A	NP_000050.2:p.Ser1630Ter	NC_000013.10:g.32913381C>A,NC_000013.10:g.32913381C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4894A>C (p.Ser1632Arg)	675	BRCA2	Uncertain significance	80358712	RCV000044514; RCV000113354; RCV000164849;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913386	32913386	NM_000059.3:c.4894A>C	NP_000050.2:p.Ser1632Arg	NC_000013.10:g.32913386A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4894_4895delAG (p.Ser1632Tyrfs)	675	BRCA2	not provided	397507748	RCV000044515;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913386	32913387	NM_000059.3:c.4894_4895delAG	NP_000050.2:p.Ser1632Tyrfs	NC_000013.10:g.32913386_32913387delAG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4897A>G (p.Ile1633Val)	675	BRCA2	Uncertain significance	80358713	RCV000044516; RCV000113355;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913389	32913389	NM_000059.3:c.4897A>G	NP_000050.2:p.Ile1633Val	NC_000013.10:g.32913389A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4898T>A (p.Ile1633Asn)	675	BRCA2	Uncertain significance	80358714	RCV000044517; RCV000113356; RCV000165405;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913390	32913390	NM_000059.3:c.4898T>A	NP_000050.2:p.Ile1633Asn	NC_000013.10:g.32913390T>A,NC_000013.10:g.32913390T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4901T>C (p.Phe1634Ser)	675	BRCA2	Uncertain significance	80358715	RCV000044518; RCV000113357; RCV000166286;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913393	32913393	NM_000059.3:c.4901T>C	NP_000050.2:p.Phe1634Ser	NC_000013.10:g.32913393T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4915G>A (p.Val1639Ile)	675	BRCA2	Benign;Uncertain significance	80358716	RCV000044519; RCV000031513; RCV000129029;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913407	32913407	NM_000059.3:c.4915G>A	NP_000050.2:p.Val1639Ile	NC_000013.10:g.32913407G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4917delA (p.His1640Metfs)	675	BRCA2	not provided	397507749	RCV000044520;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913409	32913409	NM_000059.3:c.4917delA	NP_000050.2:p.His1640Metfs	NC_000013.10:g.32913409delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4925A>C (p.Asn1642Thr)	675	BRCA2	Uncertain significance	80358718	RCV000044522; RCV000083110;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913417	32913417	NM_000059.3:c.4925A>C	NP_000050.2:p.Asn1642Thr	NC_000013.10:g.32913417A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4926_4935delTGTAGAAAAA (p.Asn1642Lysfs)	675	BRCA2	not provided	397507750	RCV000044523;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913418	32913427	NM_000059.3:c.4926_4935delTGTAGAAAAA	NP_000050.2:p.Asn1642Lysfs	NC_000013.10:g.32913418_32913427delTGTAGAAAAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4933A>T (p.Lys1645Ter)	675	BRCA2	Pathogenic	80358719	RCV000044525; RCV000113359;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913425	32913425	NM_000059.3:c.4933A>T	NP_000050.2:p.Lys1645Ter	NC_000013.10:g.32913425A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4935delA (p.Glu1646Lysfs)	675	BRCA2	Pathogenic	80359472	RCV000044526; RCV000113360;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913427	32913427	NM_000059.3:c.4935delA	NP_000050.2:p.Glu1646Lysfs	NC_000013.10:g.32913427delA	Breast Cancer Information Core (BRCA2):5163&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4940_4941delCA (p.Thr1647Serfs)	675	BRCA2	Pathogenic	397507751	RCV000044528; RCV000077342; RCV000132504;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913432	32913433	NM_000059.3:c.4940_4941delCA	NP_000050.2:p.Thr1647Serfs	NC_000013.10:g.32913432_32913433delCA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.4952delC (p.Pro1651Leufs)	675	BRCA2	not provided	397507752	RCV000044530;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913444	32913444	NM_000059.3:c.4952delC	NP_000050.2:p.Pro1651Leufs	NC_000013.10:g.32913444delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4954G>C (p.Ala1652Pro)	675	BRCA2	Uncertain significance	80358720	RCV000044531; RCV000113362;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913446	32913446	NM_000059.3:c.4954G>C	NP_000050.2:p.Ala1652Pro	NC_000013.10:g.32913446G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4965C>A (p.Tyr1655Ter)	675	BRCA2	Pathogenic	80358721	RCV000044532; RCV000083111;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913457	32913457	NM_000059.3:c.4965C>A	NP_000050.2:p.Tyr1655Ter	NC_000013.10:g.32913457C>A,NC_000013.10:g.32913457C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4987_4990delGTCA (p.Val1663Leufs)	675	BRCA2	not provided	397507753	RCV000044535;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913479	32913482	NM_000059.3:c.4987_4990delGTCA	NP_000050.2:p.Val1663Leufs	NC_000013.10:g.32913479_32913482delGTCA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.4999dupT (p.Ser1667Phefs)	675	BRCA2	not provided	397507754	RCV000044536;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913491	32913491	NM_000059.3:c.4999dupT	NP_000050.2:p.Ser1667Phefs	NC_000013.10:g.32913491dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5003C>G (p.Ala1668Gly)	675	BRCA2	Uncertain significance	80358724	RCV000044537; RCV000113367;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913495	32913495	NM_000059.3:c.5003C>G	NP_000050.2:p.Ala1668Gly	NC_000013.10:g.32913495C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5014dupT (p.Tyr1672Leufs)	675	BRCA2	not provided	397507755	RCV000044538;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913506	32913506	NM_000059.3:c.5014dupT	NP_000050.2:p.Tyr1672Leufs	NC_000013.10:g.32913506dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5035delA (p.Thr1679Leufs)	675	BRCA2	Pathogenic	80359477	RCV000044542; RCV000210136; RCV000031520; RCV000164040;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C2676676,OMIM:604370	13	32913527	32913527	NM_000059.3:c.5035delA	NP_000050.2:p.Thr1679Leufs	NC_000013.10:g.32913527delA	Breast Cancer Information Core (BRCA2):5263&base_change=del A	C2676676 604370 Breast-ovarian cancer, familial 1; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5035A>C (p.Thr1679Pro)	675	BRCA2	Uncertain significance	80358728	RCV000044541; RCV000113369; RCV000214875;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913527	32913527	NM_000059.3:c.5035A>C	NP_000050.2:p.Thr1679Pro	NC_000013.10:g.32913527A>C,NC_000013.10:g.32913527A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5045delG (p.Ser1682Ilefs)	675	BRCA2	not provided	397507756	RCV000044544;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913537	32913537	NM_000059.3:c.5045delG	NP_000050.2:p.Ser1682Ilefs	NC_000013.10:g.32913537delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5051C>G (p.Thr1684Ser)	675	BRCA2	Uncertain significance	80358729	RCV000044545; RCV000113371;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913543	32913543	NM_000059.3:c.5051C>G	NP_000050.2:p.Thr1684Ser	NC_000013.10:g.32913543C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5065_5066delGCinsAAA (p.Ala1689Lysfs)	675	BRCA2	Pathogenic	276174852	RCV000044546; RCV000113372;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913557	32913558	NM_000059.3:c.5065_5066delGCinsAAA	NP_000050.2:p.Ala1689Lysfs	NC_000013.10:g.32913557_32913558delGCinsAAA	Breast Cancer Information Core (BRCA2):5293&base_change=del GC ins AAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn)	675	BRCA2	Benign	56087561	RCV000074533; RCV000113374; RCV000044548; RCV000168573; RCV000162621;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32913562	32913562	NM_000059.3:c.5070A>C	NP_000050.2:p.Lys1690Asn	NC_000013.10:g.32913562A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs)	675	BRCA2	Pathogenic	80359480	RCV000160294; RCV000031524; RCV000044550; RCV000130743;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32913565	32913565	NM_000059.3:c.5073dupA	NP_000050.2:p.Trp1692Metfs	NC_000013.10:g.32913565dupA	Breast Cancer Information Core (BRCA2):5301&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5073delA (p.Lys1691Asnfs)	675	BRCA2	Pathogenic	80359481	RCV000044549; RCV000113375;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913565	32913565	NM_000059.3:c.5073delA	NP_000050.2:p.Lys1691Asnfs	NC_000013.10:g.32913565delA	Breast Cancer Information Core (BRCA2):5301&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5086_5087insA (p.Gly1696Glufs)	675	BRCA2	not provided	397507757	RCV000044551;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913578	32913579	NM_000059.3:c.5086_5087insA	NP_000050.2:p.Gly1696Glufs	NC_000013.10:g.32913578_32913579insA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5096A>G (p.Asp1699Gly)	675	BRCA2	Uncertain significance	80358732	RCV000044553; RCV000113377; RCV000173960; RCV000216651; RCV000130603;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32913588	32913588	NM_000059.3:c.5096A>G	NP_000050.2:p.Asp1699Gly	NC_000013.10:g.32913588A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.5098G>A (p.Gly1700Ser)	675	BRCA2	Uncertain significance	80358733	RCV000044554; RCV000113378; RCV000221190;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913590	32913590	NM_000059.3:c.5098G>A	NP_000050.2:p.Gly1700Ser	NC_000013.10:g.32913590G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5101C>T (p.Gln1701Ter)	675	BRCA2	not provided	397507758	RCV000044555;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913593	32913593	NM_000059.3:c.5101C>T	NP_000050.2:p.Gln1701Ter	NC_000013.10:g.32913593C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5104C>T (p.Pro1702Ser)	675	BRCA2	Uncertain significance	80358734	RCV000044556; RCV000113379; RCV000214445;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913596	32913596	NM_000059.3:c.5104C>T	NP_000050.2:p.Pro1702Ser	NC_000013.10:g.32913596C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5107G>C (p.Glu1703Gln)	675	BRCA2	Uncertain significance	80358735	RCV000044557; RCV000113380;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913599	32913599	NM_000059.3:c.5107G>C	NP_000050.2:p.Glu1703Gln	NC_000013.10:g.32913599G>C,NC_000013.10:g.32913599G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5107G>T (p.Glu1703Ter)	675	BRCA2	Pathogenic	80358735	RCV000044558; RCV000113381;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913599	32913599	NM_000059.3:c.5107G>T	NP_000050.2:p.Glu1703Ter	NC_000013.10:g.32913599G>C,NC_000013.10:g.32913599G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5113A>G (p.Ile1705Val)	675	BRCA2	Uncertain significance	80358737	RCV000044559; RCV000083112; RCV000217824; RCV000130471;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32913605	32913605	NM_000059.3:c.5113A>G	NP_000050.2:p.Ile1705Val	NC_000013.10:g.32913605A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5115_5119delAAATA (p.Asn1706Cysfs)	675	BRCA2	not provided	397507759	RCV000044560;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913607	32913611	NM_000059.3:c.5115_5119delAAATA	NP_000050.2:p.Asn1706Cysfs	NC_000013.10:g.32913607_32913611delAAATA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5116_5119delAATA (p.Asn1706Leufs)	675	BRCA2	Pathogenic	276174853	RCV000044561; RCV000077344; RCV000131076;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913608	32913611	NM_000059.3:c.5116_5119delAATA	NP_000050.2:p.Asn1706Leufs	NC_000013.10:g.32913608_32913611delAATA	Breast Cancer Information Core (BRCA2):5344&base_change=del AATA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5119A>G (p.Thr1707Ala)	675	BRCA2	Uncertain significance	80358738	RCV000044562; RCV000113383;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913611	32913611	NM_000059.3:c.5119A>G	NP_000050.2:p.Thr1707Ala	NC_000013.10:g.32913611A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5130_5133delTGTA (p.Tyr1710Terfs)	675	BRCA2	Pathogenic	80359484	RCV000044563; RCV000210164; RCV000077345; RCV000215028; RCV000131075;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C2676676,OMIM:604370; MedGen:CN221809	13	32913622	32913625	NM_000059.3:c.5130_5133delTGTA	NP_000050.2:p.Tyr1710Terfs	NC_000013.10:g.32913622_32913625delTGTA	Breast Cancer Information Core (BRCA2):5357&base_change=del ATGT,Breast Cancer Information Core (BRCA2):5358&base_change=del TGTA	C2676676 604370 Breast-ovarian cancer, familial 1; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.5131_5134delGTAG (p.Val1711Glufs)	675	BRCA2	Pathogenic	80359486	RCV000044564; RCV000113385;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913623	32913626	NM_000059.3:c.5131_5134delGTAG	NP_000050.2:p.Val1711Glufs	NC_000013.10:g.32913623_32913626delGTAG	Breast Cancer Information Core (BRCA2):5359&base_change=del GTAG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5131delG (p.Val1711Terfs)	675	BRCA2	not provided	397507760	RCV000044565;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913623	32913623	NM_000059.3:c.5131delG	NP_000050.2:p.Val1711Terfs	NC_000013.10:g.32913623delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5141_5144delATTT (p.Tyr1714Cysfs)	675	BRCA2	Pathogenic	80359487	RCV000044566; RCV000113386; RCV000222425;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32913633	32913636	NM_000059.3:c.5141_5144delATTT	NP_000050.2:p.Tyr1714Cysfs	NC_000013.10:g.32913633_32913636delATTT	Breast Cancer Information Core (BRCA2):5369&base_change=del ATTT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.5146_5149delTATG (p.Tyr1716Lysfs)	675	BRCA2	Pathogenic	276174854	RCV000044567; RCV000113387; RCV000214399;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913638	32913641	NM_000059.3:c.5146_5149delTATG	NP_000050.2:p.Tyr1716Lysfs	NC_000013.10:g.32913638_32913641delTATG	Breast Cancer Information Core (BRCA2):5373&base_change=del GTAT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5157_5161delTTCAA (p.Asn1719Lysfs)	675	BRCA2	Pathogenic	80359488	RCV000044568; RCV000113389;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913649	32913653	NM_000059.3:c.5157_5161delTTCAA	NP_000050.2:p.Asn1719Lysfs	NC_000013.10:g.32913649_32913653delTTCAA	Breast Cancer Information Core (BRCA2):5385&base_change=del TTCAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5159C>G (p.Ser1720Ter)	675	BRCA2	Pathogenic	80358740	RCV000044570; RCV000113390;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913651	32913651	NM_000059.3:c.5159C>G	NP_000050.2:p.Ser1720Ter	NC_000013.10:g.32913651C>A,NC_000013.10:g.32913651C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5164_5165delAG (p.Ser1722Tyrfs)	675	BRCA2	Pathogenic	80359490	RCV000044579; RCV000077346; RCV000216136;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913656	32913657	NM_000059.3:c.5164_5165delAG	NP_000050.2:p.Ser1722Tyrfs	NC_000013.10:g.32913656_32913657delAG	Breast Cancer Information Core (BRCA2):5392&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5164_5168dupAGTAC (p.Ile1724Valfs)	675	BRCA2	not provided	397507765	RCV000044580;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913656	32913660	NM_000059.3:c.5164_5168dupAGTAC	NP_000050.2:p.Ile1724Valfs	NC_000013.10:g.32913656_32913660dupAGTAC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5167A>C (p.Thr1723Pro)	675	BRCA2	Uncertain significance	80358742	RCV000044581; RCV000113391;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913659	32913659	NM_000059.3:c.5167A>C	NP_000050.2:p.Thr1723Pro	NC_000013.10:g.32913659A>C,NC_000013.10:g.32913659A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5170A>G (p.Ile1724Val)	675	BRCA2	Benign;Likely benign;Uncertain significance	35335654	RCV000160227; RCV000082938; RCV000206856; RCV000131376;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32913662	32913662	NM_000059.3:c.5170A>G	NP_000050.2:p.Ile1724Val	NC_000013.10:g.32913662A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5171delT (p.Ile1724Lysfs)	675	BRCA2	not provided	397507767	RCV000044592;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913663	32913663	NM_000059.3:c.5171delT	NP_000050.2:p.Ile1724Lysfs	NC_000013.10:g.32913663delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5180delA (p.Asn1727Metfs)	675	BRCA2	Pathogenic	80359491	RCV000044594; RCV000113394;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913672	32913672	NM_000059.3:c.5180delA	NP_000050.2:p.Asn1727Metfs	NC_000013.10:g.32913672delA	Breast Cancer Information Core (BRCA2):5408&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5180dupA (p.Asn1727Lysfs)	675	BRCA2	not provided	397507769	RCV000044595;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913672	32913672	NM_000059.3:c.5180dupA	NP_000050.2:p.Asn1727Lysfs	NC_000013.10:g.32913672dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5182G>A (p.Asp1728Asn)	675	BRCA2	Uncertain significance	80358744	RCV000044596; RCV000113395; RCV000220094;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913674	32913674	NM_000059.3:c.5182G>A	NP_000050.2:p.Asp1728Asn	NC_000013.10:g.32913674G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5188A>T (p.Asn1730Tyr)	675	BRCA2	not provided	397507770	RCV000044597;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913680	32913680	NM_000059.3:c.5188A>T	NP_000050.2:p.Asn1730Tyr	NC_000013.10:g.32913680A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5191C>A (p.His1731Asn)	675	BRCA2	Likely benign;Uncertain significance	80358745	RCV000044600; RCV000077348; RCV000222021; RCV000167854;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913683	32913683	NM_000059.3:c.5191C>A	NP_000050.2:p.His1731Asn	NC_000013.10:g.32913683C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5195delT (p.Leu1732Profs)	675	BRCA2	Pathogenic	587779363	RCV000074535; RCV000077349;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913687	32913687	NM_000059.3:c.5195delT	NP_000050.2:p.Leu1732Profs	NC_000013.10:g.32913687delT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5197dupT (p.Ser1733Phefs)	675	BRCA2	not provided	397507771	RCV000044601;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913689	32913689	NM_000059.3:c.5197dupT	NP_000050.2:p.Ser1733Phefs	NC_000013.10:g.32913689dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5207_5208delAA (p.Gln1736Argfs)	675	BRCA2	Pathogenic	397507773	RCV000044606; RCV000219814;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913699	32913700	NM_000059.3:c.5207_5208delAA	NP_000050.2:p.Gln1736Argfs	NC_000013.10:g.32913699_32913700delAA	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5208delA (p.Asp1737Ilefs)	675	BRCA2	not provided	397507774	RCV000044607;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913700	32913700	NM_000059.3:c.5208delA	NP_000050.2:p.Asp1737Ilefs	NC_000013.10:g.32913700delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5217T>A (p.Tyr1739Ter)	675	BRCA2	Pathogenic	80358746	RCV000044610; RCV000113399;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913709	32913709	NM_000059.3:c.5217T>A	NP_000050.2:p.Tyr1739Ter	NC_000013.10:g.32913709T>A,NC_000013.10:g.32913709T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5217_5220delTTTA (p.Tyr1739Terfs)	675	BRCA2	Pathogenic	80359494	RCV000044611; RCV000113400; RCV000219606;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913709	32913712	NM_000059.3:c.5217_5220delTTTA	NP_000050.2:p.Tyr1739Terfs	NC_000013.10:g.32913709_32913712delTTTA	Breast Cancer Information Core (BRCA2):5445&base_change=del TTTA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5217_5221delTTTAA (p.Tyr1739Terfs)	675	BRCA2	Pathogenic	80359495	RCV000044612; RCV000113401;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913709	32913713	NM_000059.3:c.5217_5221delTTTAA	NP_000050.2:p.Tyr1739Terfs	NC_000013.10:g.32913709_32913713delTTTAA	Breast Cancer Information Core (BRCA2):5445&base_change=del TTTAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5217_5223delTTTAAGT (p.Tyr1739Terfs)	675	BRCA2	Pathogenic	80359496	RCV000044613; RCV000077350; RCV000219434; RCV000131077;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32913709	32913715	NM_000059.3:c.5217_5223delTTTAAGT	NP_000050.2:p.Tyr1739Terfs	NC_000013.10:g.32913709_32913715delTTTAAGT	Breast Cancer Information Core (BRCA2):5445&base_change=del TTTAAGT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.5217_5224delTTTAAGTA (p.Tyr1739Terfs)	675	BRCA2	Pathogenic	80359497	RCV000044614; RCV000113402;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913709	32913716	NM_000059.3:c.5217_5224delTTTAAGTA	NP_000050.2:p.Tyr1739Terfs	NC_000013.10:g.32913709_32913716delTTTAAGTA	Breast Cancer Information Core (BRCA2):5445&base_change=del TTTAAGTA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5222_5225delGTAA (p.Ser1741Thrfs)	675	BRCA2	Pathogenic	80359498	RCV000160295; RCV000113407;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913714	32913717	NM_000059.3:c.5222_5225delGTAA	NP_000050.2:p.Ser1741Thrfs	NC_000013.10:g.32913714_32913717delGTAA	Breast Cancer Information Core (BRCA2):5450&base_change=del GTAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5224_5229delAACAGT (p.Asn1742_Ser1743del)	675	BRCA2	Uncertain significance	276174855	RCV000044617; RCV000113408;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913716	32913721	NM_000059.3:c.5224_5229delAACAGT	NP_000050.2:p.Asn1742_Ser1743del	NC_000013.10:g.32913716_32913721delAACAGT	Breast Cancer Information Core (BRCA2):5452&base_change=del AACAGT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5238dupT (p.Asn1747Terfs)	675	BRCA2	Pathogenic	80359499	RCV000044618; RCV000031535; RCV000212240; RCV000130726;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32913730	32913730	NM_000059.3:c.5238dupT	NP_000050.2:p.Asn1747Terfs	NC_000013.10:g.32913730dupT	Breast Cancer Information Core (BRCA2):5466&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.5249C>T (p.Ser1750Phe)	675	BRCA2	Uncertain significance	80358748	RCV000044619; RCV000113410; RCV000130265;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913741	32913741	NM_000059.3:c.5249C>T	NP_000050.2:p.Ser1750Phe	NC_000013.10:g.32913741C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5250delC (p.Tyr1751Thrfs)	675	BRCA2	not provided	397507776	RCV000044620;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913742	32913742	NM_000059.3:c.5250delC	NP_000050.2:p.Tyr1751Thrfs	NC_000013.10:g.32913742delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5254C>T (p.His1752Tyr)	675	BRCA2	Uncertain significance	80358749	RCV000044621; RCV000113411;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913746	32913746	NM_000059.3:c.5254C>T	NP_000050.2:p.His1752Tyr	NC_000013.10:g.32913746C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5254delC (p.His1752Ilefs)	675	BRCA2	Pathogenic	397507777	RCV000044622; RCV000214583;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913746	32913746	NM_000059.3:c.5254delC	NP_000050.2:p.His1752Ilefs	NC_000013.10:g.32913746delC	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5266_5269delGTAT (p.Val1756Ilefs)	675	BRCA2	Pathogenic	80359501	RCV000044623; RCV000031536;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913758	32913761	NM_000059.3:c.5266_5269delGTAT	NP_000050.2:p.Val1756Ilefs	NC_000013.10:g.32913758_32913761delGTAT	Breast Cancer Information Core (BRCA2):5494&base_change=del GTAT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5272A>G (p.Asn1758Asp)	675	BRCA2	Uncertain significance	80358750	RCV000044624; RCV000113413;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913764	32913764	NM_000059.3:c.5272A>G	NP_000050.2:p.Asn1758Asp	NC_000013.10:g.32913764A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5279C>G (p.Ser1760Ter)	675	BRCA2	Pathogenic	80358751	RCV000044625; RCV000113414; RCV000131074;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913771	32913771	NM_000059.3:c.5279C>G	NP_000050.2:p.Ser1760Ter	NC_000013.10:g.32913771C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5282G>A (p.Gly1761Glu)	675	BRCA2	Uncertain significance	80358752	RCV000044626; RCV000083115; RCV000129736;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913774	32913774	NM_000059.3:c.5282G>A	NP_000050.2:p.Gly1761Glu	NC_000013.10:g.32913774G>A,NC_000013.10:g.32913774G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5285A>C (p.Tyr1762Ser)	675	BRCA2	Uncertain significance	80358753	RCV000044627; RCV000113416;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913777	32913777	NM_000059.3:c.5285A>C	NP_000050.2:p.Tyr1762Ser	NC_000013.10:g.32913777A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5286T>A (p.Tyr1762Ter)	675	BRCA2	Pathogenic	80358754	RCV000044628; RCV000113417;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913778	32913778	NM_000059.3:c.5286T>A	NP_000050.2:p.Tyr1762Ter	NC_000013.10:g.32913778T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5290_5291delTC (p.Ser1764Lysfs)	675	BRCA2	Pathogenic	80359503	RCV000044629; RCV000031537; RCV000215243;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913782	32913783	NM_000059.3:c.5290_5291delTC	NP_000050.2:p.Ser1764Lysfs	NC_000013.10:g.32913782_32913783delTC	Breast Cancer Information Core (BRCA2):5518&base_change=del TC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5291C>G (p.Ser1764Ter)	675	BRCA2	not provided	397507778	RCV000044630;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913783	32913783	NM_000059.3:c.5291C>G	NP_000050.2:p.Ser1764Ter	NC_000013.10:g.32913783C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5298T>C (p.Asn1766=)	675	BRCA2	Benign	276174856	RCV000044631; RCV000113418;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913790	32913790	NM_000059.3:c.5298T>C	NP_000050.2:p.Asn1766=	NC_000013.10:g.32913790T>C	Breast Cancer Information Core (BRCA2):5526&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5299_5307delAAACTTGAT (p.Lys1767_Asp1769del)	675	BRCA2	Uncertain significance	80359504	RCV000044632; RCV000113419;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913791	32913799	NM_000059.3:c.5299_5307delAAACTTGAT	NP_000050.2:p.Lys1767_Asp1769del	NC_000013.10:g.32913791_32913799delAAACTTGAT	Breast Cancer Information Core (BRCA2):5527&base_change=del AAACTTGAT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5303_5304delTT (p.Leu1768Argfs)	675	BRCA2	Pathogenic	80359505	RCV000074536; RCV000031538; RCV000162923;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913795	32913796	NM_000059.3:c.5303_5304delTT	NP_000050.2:p.Leu1768Argfs	NC_000013.10:g.32913795_32913796delTT	Breast Cancer Information Core (BRCA2):5531&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5342A>G (p.Asp1781Gly)	675	BRCA2	Uncertain significance	80358756	RCV000044635; RCV000113420; RCV000214135;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32913834	32913834	NM_000059.3:c.5342A>G	NP_000050.2:p.Asp1781Gly	NC_000013.10:g.32913834A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5344C>A (p.Gln1782Lys)	675	BRCA2	Likely benign;Uncertain significance	80358757	RCV000044636; RCV000113421; RCV000132498;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913836	32913836	NM_000059.3:c.5344C>A	NP_000050.2:p.Gln1782Lys	NC_000013.10:g.32913836C>A,NC_000013.10:g.32913836C>G,NC_000013.10:g.32913836C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5344C>T (p.Gln1782Ter)	675	BRCA2	Pathogenic	80358757	RCV000044637; RCV000113422;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913836	32913836	NM_000059.3:c.5344C>T	NP_000050.2:p.Gln1782Ter	NC_000013.10:g.32913836C>A,NC_000013.10:g.32913836C>G,NC_000013.10:g.32913836C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5344_5345delCA (p.Gln1782Lysfs)	675	BRCA2	Pathogenic	80359506	RCV000044638; RCV000113423;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913836	32913837	NM_000059.3:c.5344_5345delCA	NP_000050.2:p.Gln1782Lysfs	NC_000013.10:g.32913836_32913837delCA	Breast Cancer Information Core (BRCA2):5572&base_change=del CA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5350_5351delAAinsT (p.Asn1784Serfs)	675	BRCA2	not provided	397507779	RCV000044640;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913842	32913843	NM_000059.3:c.5350_5351delAAinsT	NP_000050.2:p.Asn1784Serfs	NC_000013.10:g.32913842_32913843delAAinsT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs)	675	BRCA2	Pathogenic	80359508	RCV000044642; RCV000031541; RCV000195402; RCV000131977;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32913843	32913843	NM_000059.3:c.5351dupA	NP_000050.2:p.Asn1784Lysfs	NC_000013.10:g.32913843dupA	Breast Cancer Information Core (BRCA2):5579&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5351delA (p.Asn1784Thrfs)	675	BRCA2	Pathogenic	80359509	RCV000044641; RCV000031542;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913843	32913843	NM_000059.3:c.5351delA	NP_000050.2:p.Asn1784Thrfs	NC_000013.10:g.32913843delA	Breast Cancer Information Core (BRCA2):5579&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5353_5354delAC (p.Thr1785Terfs)	675	BRCA2	not provided	397507780	RCV000044643;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913845	32913846	NM_000059.3:c.5353_5354delAC	NP_000050.2:p.Thr1785Terfs	NC_000013.10:g.32913845_32913846delAC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5355dupT (p.Ser1786Terfs)	675	BRCA2	not provided	397507781	RCV000044644;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913847	32913847	NM_000059.3:c.5355dupT	NP_000050.2:p.Ser1786Terfs	NC_000013.10:g.32913847dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5364dupC (p.Lys1789Glnfs)	675	BRCA2	Pathogenic	587779364	RCV000074538;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913856	32913856	NM_000059.3:c.5364dupC	NP_000050.2:p.Lys1789Glnfs	NC_000013.10:g.32913856dupC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5380delG (p.Val1794Terfs)	675	BRCA2	not provided	397507782	RCV000044645;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913872	32913872	NM_000059.3:c.5380delG	NP_000050.2:p.Val1794Terfs	NC_000013.10:g.32913872delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5389_5390delGC (p.Ala1797Lysfs)	675	BRCA2	not provided	397507783	RCV000044646;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913881	32913882	NM_000059.3:c.5389_5390delGC	NP_000050.2:p.Ala1797Lysfs	NC_000013.10:g.32913881_32913882delGC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5390C>G (p.Ala1797Gly)	675	BRCA2	Uncertain significance	80358760	RCV000044649; RCV000113425; RCV000167078;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913882	32913882	NM_000059.3:c.5390C>G	NP_000050.2:p.Ala1797Gly	NC_000013.10:g.32913882C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5404C>T (p.Gln1802Ter)	675	BRCA2	Pathogenic	80358763	RCV000044653; RCV000113426;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913896	32913896	NM_000059.3:c.5404C>T	NP_000050.2:p.Gln1802Ter	NC_000013.10:g.32913896C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5405A>G (p.Gln1802Arg)	675	BRCA2	Uncertain significance	80358764	RCV000044654; RCV000083117;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913897	32913897	NM_000059.3:c.5405A>G	NP_000050.2:p.Gln1802Arg	NC_000013.10:g.32913897A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5410_5411delGT (p.Val1804Lysfs)	675	BRCA2	Pathogenic	80359512	RCV000044655; RCV000031544; RCV000219181; RCV000131109;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32913902	32913903	NM_000059.3:c.5410_5411delGT	NP_000050.2:p.Val1804Lysfs	NC_000013.10:g.32913902_32913903delGT	Breast Cancer Information Core (BRCA2):5638&base_change=del GT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser)	675	BRCA2	Uncertain significance	80358765	RCV000074540; RCV000113427; RCV000131487;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913906	32913906	NM_000059.3:c.5414A>G	NP_000050.2:p.Asn1805Ser	NC_000013.10:g.32913906A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5433_5436delGGAA (p.Glu1811Aspfs)	675	BRCA2	not provided	397507784	RCV000044659;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913925	32913928	NM_000059.3:c.5433_5436delGGAA	NP_000050.2:p.Glu1811Aspfs	NC_000013.10:g.32913925_32913928delGGAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5434G>T (p.Glu1812Ter)	675	BRCA2	Pathogenic	80358767	RCV000044660; RCV000113430;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913926	32913926	NM_000059.3:c.5434G>T	NP_000050.2:p.Glu1812Ter	NC_000013.10:g.32913926G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5439delT (p.Val1814Terfs)	675	BRCA2	Pathogenic	397507785	RCV000044661; RCV000198909;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	13	32913931	32913931	NM_000059.3:c.5439delT	NP_000050.2:p.Val1814Terfs	NC_000013.10:g.32913931delT	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_000059.3(BRCA2):c.5454delA (p.Cys1820Alafs)	675	BRCA2	Pathogenic	80359513	RCV000044662; RCV000113431; RCV000132083;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913946	32913946	NM_000059.3:c.5454delA	NP_000050.2:p.Cys1820Alafs	NC_000013.10:g.32913946delA	Breast Cancer Information Core (BRCA2):5682&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5466dupT (p.Lys1823Terfs)	675	BRCA2	Pathogenic	80359514	RCV000044664; RCV000113433;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913958	32913958	NM_000059.3:c.5466dupT	NP_000050.2:p.Lys1823Terfs	NC_000013.10:g.32913958dupT	Breast Cancer Information Core (BRCA2):5694&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5467A>C (p.Lys1823Gln)	675	BRCA2	Uncertain significance	276174858	RCV000044665; RCV000113434;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913959	32913959	NM_000059.3:c.5467A>C	NP_000050.2:p.Lys1823Gln	NC_000013.10:g.32913959A>C,NC_000013.10:g.32913959A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5471dupA (p.Asn1824Lysfs)	675	BRCA2	Pathogenic	80359515	RCV000044668; RCV000031548; RCV000166935;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913963	32913963	NM_000059.3:c.5471dupA	NP_000050.2:p.Asn1824Lysfs	NC_000013.10:g.32913963dupA	Breast Cancer Information Core (BRCA2):5699&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5471A>G (p.Asn1824Ser)	675	BRCA2	Uncertain significance	80358769	RCV000044666; RCV000113435;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913963	32913963	NM_000059.3:c.5471A>G	NP_000050.2:p.Asn1824Ser	NC_000013.10:g.32913963A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5471delA (p.Asn1824Metfs)	675	BRCA2	not provided	397507786	RCV000044667;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32913963	32913963	NM_000059.3:c.5471delA	NP_000050.2:p.Asn1824Metfs	NC_000013.10:g.32913963delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5479A>G (p.Ile1827Val)	675	BRCA2	Uncertain significance	80358770	RCV000044669; RCV000113437;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913971	32913971	NM_000059.3:c.5479A>G	NP_000050.2:p.Ile1827Val	NC_000013.10:g.32913971A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5482_5486delAAATT (p.Lys1828Valfs)	675	BRCA2	Pathogenic	80359516	RCV000044670; RCV000083118; RCV000034446; RCV000162924;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32913974	32913978	NM_000059.3:c.5482_5486delAAATT	NP_000050.2:p.Lys1828Valfs	NC_000013.10:g.32913974_32913978delAAATT	Breast Cancer Information Core (BRCA2):5710&base_change=del AAATT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5505T>G (p.Asn1835Lys)	675	BRCA2	Uncertain significance	80358772	RCV000044673; RCV000113441;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913997	32913997	NM_000059.3:c.5505T>G	NP_000050.2:p.Asn1835Lys	NC_000013.10:g.32913997T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5507A>C (p.Asn1836Thr)	675	BRCA2	Uncertain significance	80358773	RCV000044674; RCV000113442;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32913999	32913999	NM_000059.3:c.5507A>C	NP_000050.2:p.Asn1836Thr	NC_000013.10:g.32913999A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5526delT (p.Ala1843Hisfs)	675	BRCA2	Pathogenic	80359518	RCV000044677; RCV000113443;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914018	32914018	NM_000059.3:c.5526delT	NP_000050.2:p.Ala1843Hisfs	NC_000013.10:g.32914018delT	Breast Cancer Information Core (BRCA2):5754&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5542delA (p.Ser1848Valfs)	675	BRCA2	Pathogenic	80359519	RCV000044678; RCV000077353; RCV000218498; RCV000130725;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32914034	32914034	NM_000059.3:c.5542delA	NP_000050.2:p.Ser1848Valfs	NC_000013.10:g.32914034delA	Breast Cancer Information Core (BRCA2):5770&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.5555T>A (p.Val1852Asp)	675	BRCA2	not provided	483352930	RCV000114983;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914047	32914047	NM_000059.3:c.5555T>A	NP_000050.2:p.Val1852Asp	NC_000013.10:g.32914047T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5560_5561delGT (p.Val1854Phefs)	675	BRCA2	Pathogenic	397507787	RCV000044681;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914052	32914053	NM_000059.3:c.5560_5561delGT	NP_000050.2:p.Val1854Phefs	NC_000013.10:g.32914052_32914053delGT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5569G>T (p.Glu1857Ter)	675	BRCA2	Pathogenic	80358778	RCV000044682; RCV000113444;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914061	32914061	NM_000059.3:c.5569G>T	NP_000050.2:p.Glu1857Ter	NC_000013.10:g.32914061G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5569_5573delGAAAC (p.Glu1857Asnfs)	675	BRCA2	Pathogenic	397507788	RCV000044683; RCV000168578; RCV000167362;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914061	32914065	NM_000059.3:c.5569_5573delGAAAC	NP_000050.2:p.Glu1857Asnfs	NC_000013.10:g.32914061_32914065delGAAAC	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5577_5580delTAAA (p.Lys1861Terfs)	675	BRCA2	Pathogenic	80359522	RCV000044685; RCV000113446;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914069	32914072	NM_000059.3:c.5577_5580delTAAA	NP_000050.2:p.Lys1861Terfs	NC_000013.10:g.32914069_32914072delTAAA	Breast Cancer Information Core (BRCA2):5805&base_change=del TAAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5580_5584delAAAAG (p.Lys1860Asnfs)	675	BRCA2	not provided	397507789	RCV000044686;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914072	32914076	NM_000059.3:c.5580_5584delAAAAG	NP_000050.2:p.Lys1860Asnfs	NC_000013.10:g.32914072_32914076delAAAAG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5583dupA (p.Val1862Serfs)	675	BRCA2	Pathogenic	397507790	RCV000044687; RCV000166213;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914075	32914075	NM_000059.3:c.5583dupA	NP_000050.2:p.Val1862Serfs	NC_000013.10:g.32914075dupA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5585_5588delTGAA (p.Val1862Glufs)	675	BRCA2	Pathogenic	80359523	RCV000044688; RCV000077354; RCV000223488; RCV000162925;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32914077	32914080	NM_000059.3:c.5585_5588delTGAA	NP_000050.2:p.Val1862Glufs	NC_000013.10:g.32914077_32914080delTGAA	Breast Cancer Information Core (BRCA2):5813&base_change=del TGAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.5592_5593delCA (p.Phe1866Tyrfs)	675	BRCA2	not provided	397507791	RCV000044689;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914084	32914085	NM_000059.3:c.5592_5593delCA	NP_000050.2:p.Phe1866Tyrfs	NC_000013.10:g.32914084_32914085delCA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5595_5596delAT (p.Phe1866Tyrfs)	675	BRCA2	Pathogenic	80359524	RCV000044690; RCV000031558; RCV000219038;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914087	32914088	NM_000059.3:c.5595_5596delAT	NP_000050.2:p.Phe1866Tyrfs	NC_000013.10:g.32914087_32914088delAT	Breast Cancer Information Core (BRCA2):5823&base_change=del AT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5596T>C (p.Phe1866Leu)	675	BRCA2	Uncertain significance	80358779	RCV000044691; RCV000113447; RCV000165388;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914088	32914088	NM_000059.3:c.5596T>C	NP_000050.2:p.Phe1866Leu	NC_000013.10:g.32914088T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5602G>T (p.Asp1868Tyr)	675	BRCA2	Uncertain significance	80358781	RCV000044693; RCV000113448; RCV000129963;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914094	32914094	NM_000059.3:c.5602G>T	NP_000050.2:p.Asp1868Tyr	NC_000013.10:g.32914094G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5614A>T (p.Lys1872Ter)	675	BRCA2	Pathogenic	80358783	RCV000044696; RCV000113450; RCV000212241; RCV000162926;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32914106	32914106	NM_000059.3:c.5614A>T	NP_000050.2:p.Lys1872Ter	NC_000013.10:g.32914106A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.5621_5624delTTAA (p.Ile1874Argfs)	675	BRCA2	Pathogenic	80359526	RCV000044698; RCV000031561; RCV000223208; RCV000131115;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32914113	32914116	NM_000059.3:c.5621_5624delTTAA	NP_000050.2:p.Ile1874Argfs	NC_000013.10:g.32914113_32914116delTTAA	Breast Cancer Information Core (BRCA2):5849&base_change=del TTAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.5624delA (p.Lys1875Argfs)	675	BRCA2	not provided	397507792	RCV000044699;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914116	32914116	NM_000059.3:c.5624delA	NP_000050.2:p.Lys1875Argfs	NC_000013.10:g.32914116delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5626G>T (p.Glu1876Ter)	675	BRCA2	Pathogenic	397507793	RCV000044700; RCV000129291;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914118	32914118	NM_000059.3:c.5626G>T	NP_000050.2:p.Glu1876Ter	NC_000013.10:g.32914118G>A,NC_000013.10:g.32914118G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys)	675	BRCA2	Likely benign;Uncertain significance	80358784	RCV000044701; RCV000031564; RCV000195372; RCV000168579; RCV000164012;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914126	32914126	NM_000059.3:c.5634C>G	NP_000050.2:p.Asn1878Lys	NC_000013.10:g.32914126C>G,NC_000013.10:g.32914126C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5641_5644delAAAT (p.Lys1881Glnfs)	675	BRCA2	Pathogenic;Uncertain significance	276174860	RCV000074542; RCV000113451;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914133	32914136	NM_000059.3:c.5641_5644delAAAT	NP_000050.2:p.Lys1881Glnfs	NC_000013.10:g.32914133_32914136delAAAT	Breast Cancer Information Core (BRCA2):5869&base_change=del 4	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5645C>G (p.Ser1882Ter)	675	BRCA2	Pathogenic;risk factor	80358785	RCV000044706; RCV000009937; RCV000113452; RCV000009938; RCV000009939;	N	MedGen:C0025149,OMIM:155255,ORPHA:616; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C2751641,OMIM:613029; MedGen:CN033288,OMIM:194070	13	32914137	32914137	NM_000059.3:c.5645C>G	NP_000050.2:p.Ser1882Ter	NC_000013.10:g.32914137C>A,NC_000013.10:g.32914137C>G	OMIM Allelic Variant:600185.0031	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C2751641 613029 Glioma susceptibility 3; C0025149 155255 Medulloblastoma; CN033288 194070 Wilms tumor 1
NM_000059.3(BRCA2):c.5650_5659delATTTGCCAAA (p.Ile1884Argfs)	675	BRCA2	not provided	397507794	RCV000044707;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914142	32914151	NM_000059.3:c.5650_5659delATTTGCCAAA	NP_000050.2:p.Ile1884Argfs	NC_000013.10:g.32914142_32914151delATTTGCCAAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5651T>C (p.Ile1884Thr)	675	BRCA2	Uncertain significance	80358788	RCV000044708; RCV000113453; RCV000216526;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914143	32914143	NM_000059.3:c.5651T>C	NP_000050.2:p.Ile1884Thr	NC_000013.10:g.32914143T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5660C>T (p.Thr1887Met)	675	BRCA2	Uncertain significance	397507795	RCV000044711; RCV000129439;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914152	32914152	NM_000059.3:c.5660C>T	NP_000050.2:p.Thr1887Met	NC_000013.10:g.32914152C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5661G>A (p.Thr1887=)	675	BRCA2	Likely benign;Uncertain significance	80359793	RCV000044712; RCV000113456; RCV000163504;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914153	32914153	NM_000059.3:c.5661G>A	NP_000050.2:p.Thr1887=	NC_000013.10:g.32914153G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5663A>G (p.Lys1888Arg)	675	BRCA2	Uncertain significance	80358791	RCV000044713; RCV000113457; RCV000216952; RCV000131719;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914155	32914155	NM_000059.3:c.5663A>G	NP_000050.2:p.Lys1888Arg	NC_000013.10:g.32914155A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5665A>T (p.Ile1889Phe)	675	BRCA2	Uncertain significance	80358792	RCV000044714; RCV000113458;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914157	32914157	NM_000059.3:c.5665A>T	NP_000050.2:p.Ile1889Phe	NC_000013.10:g.32914157A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5665delA (p.Ile1889Leufs)	675	BRCA2	not provided	397507796	RCV000044715;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914157	32914157	NM_000059.3:c.5665delA	NP_000050.2:p.Ile1889Leufs	NC_000013.10:g.32914157delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5668A>G (p.Met1890Val)	675	BRCA2	Uncertain significance	80358793	RCV000044716; RCV000113459;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914160	32914160	NM_000059.3:c.5668A>G	NP_000050.2:p.Met1890Val	NC_000013.10:g.32914160A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5669T>C (p.Met1890Thr)	675	BRCA2	Uncertain significance	80358794	RCV000044717; RCV000113460; RCV000212242;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914161	32914161	NM_000059.3:c.5669T>C	NP_000050.2:p.Met1890Thr	NC_000013.10:g.32914161T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.5681dupA (p.Tyr1894Terfs)	675	BRCA2	Pathogenic	80359527	RCV000044718; RCV000031569; RCV000129296;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914173	32914173	NM_000059.3:c.5681dupA	NP_000050.2:p.Tyr1894Terfs	NC_000013.10:g.32914173dupA	Breast Cancer Information Core (BRCA2):5909&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5683G>C (p.Glu1895Gln)	675	BRCA2	not provided	146351301	RCV000044720;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914175	32914175	NM_000059.3:c.5683G>C	NP_000050.2:p.Glu1895Gln	NC_000013.10:g.32914175G>A,NC_000013.10:g.32914175G>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5699C>A (p.Ser1900Ter)	675	BRCA2	not provided	397507797	RCV000044721;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914191	32914191	NM_000059.3:c.5699C>A	NP_000050.2:p.Ser1900Ter	NC_000013.10:g.32914191C>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5702_5703delAG (p.Glu1901Glyfs)	675	BRCA2	Pathogenic	80359528	RCV000044722; RCV000113463;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914194	32914195	NM_000059.3:c.5702_5703delAG	NP_000050.2:p.Glu1901Glyfs	NC_000013.10:g.32914194_32914195delAG	Breast Cancer Information Core (BRCA2):5930&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)	675	BRCA2	Benign	4987048	RCV000044723; RCV000113464; RCV000167833; RCV000120340; RCV000131020;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914196	32914196	NM_000059.3:c.5704G>A	NP_000050.2:p.Asp1902Asn	NC_000013.10:g.32914196G>A,NC_000013.10:g.32914196G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5714A>G (p.His1905Arg)	675	BRCA2	Uncertain significance	80358796	RCV000044725; RCV000113466; RCV000130620;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914206	32914206	NM_000059.3:c.5714A>G	NP_000050.2:p.His1905Arg	NC_000013.10:g.32914206A>G,NC_000013.10:g.32914206A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5717_5718delAC (p.Asn1906Ilefs)	675	BRCA2	Pathogenic	80359529	RCV000044726; RCV000113467;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914209	32914210	NM_000059.3:c.5717_5718delAC	NP_000050.2:p.Asn1906Ilefs	NC_000013.10:g.32914209_32914210delAC	Breast Cancer Information Core (BRCA2):5945&base_change=del AC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5718_5721delCTCT (p.Ser1907Terfs)	675	BRCA2	Pathogenic	276174862	RCV000044727; RCV000113469;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914210	32914213	NM_000059.3:c.5718_5721delCTCT	NP_000050.2:p.Ser1907Terfs	NC_000013.10:g.32914210_32914213delCTCT	Breast Cancer Information Core (BRCA2):5946&base_change=del CTCT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5723T>C (p.Leu1908Pro)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358797	RCV000044729; RCV000031572; RCV000220622;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914215	32914215	NM_000059.3:c.5723T>C	NP_000050.2:p.Leu1908Pro	NC_000013.10:g.32914215T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5724delA (p.Asp1909Ilefs)	675	BRCA2	Pathogenic	80359532	RCV000044730; RCV000113470;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914216	32914216	NM_000059.3:c.5724delA	NP_000050.2:p.Asp1909Ilefs	NC_000013.10:g.32914216delA	Breast Cancer Information Core (BRCA2):5952&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5726A>G (p.Asp1909Gly)	675	BRCA2	Uncertain significance	80358798	RCV000044731; RCV000113471; RCV000213615; RCV000212243;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32914218	32914218	NM_000059.3:c.5726A>G	NP_000050.2:p.Asp1909Gly	NC_000013.10:g.32914218A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5728_5730delAAT (p.Asn1910del)	675	BRCA2	Uncertain significance	28897736	RCV000044732; RCV000113472; RCV000214058;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914220	32914222	NM_000059.3:c.5728_5730delAAT	NP_000050.2:p.Asn1910del	NC_000013.10:g.32914220_32914222delAAT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5729A>G (p.Asn1910Ser)	675	BRCA2	Uncertain significance	276174863	RCV000044733; RCV000113473; RCV000213160;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914221	32914221	NM_000059.3:c.5729A>G	NP_000050.2:p.Asn1910Ser	NC_000013.10:g.32914221A>G,NC_000013.10:g.32914221A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5734G>T (p.Glu1912Ter)	675	BRCA2	not provided	397507800	RCV000044737;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914226	32914226	NM_000059.3:c.5734G>T	NP_000050.2:p.Glu1912Ter	NC_000013.10:g.32914226G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5737T>C (p.Cys1913Arg)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358799	RCV000074543; RCV000031573; RCV000212244; RCV000132499;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914229	32914229	NM_000059.3:c.5737T>C	NP_000050.2:p.Cys1913Arg	NC_000013.10:g.32914229T>C,NC_000013.10:g.32914229T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5739T>A (p.Cys1913Ter)	675	BRCA2	not provided	397507801	RCV000044739;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914231	32914231	NM_000059.3:c.5739T>A	NP_000050.2:p.Cys1913Ter	NC_000013.10:g.32914231T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5752C>T (p.His1918Tyr)	675	BRCA2	Benign	80358803	RCV000160231; RCV000077359; RCV000044743; RCV000168582; RCV000163008;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914244	32914244	NM_000059.3:c.5752C>T	NP_000050.2:p.His1918Tyr	NC_000013.10:g.32914244C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5754_5755delTA (p.His1918Glnfs)	675	BRCA2	not provided	397507803	RCV000044745;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914246	32914247	NM_000059.3:c.5754_5755delTA	NP_000050.2:p.His1918Glnfs	NC_000013.10:g.32914246_32914247delTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5763dupT (p.Ala1922Cysfs)	675	BRCA2	Pathogenic	80359534	RCV000044747; RCV000113479;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914255	32914255	NM_000059.3:c.5763dupT	NP_000050.2:p.Ala1922Cysfs	NC_000013.10:g.32914255dupT	Breast Cancer Information Core (BRCA2):5991&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5771_5774delTTCA (p.Ile1924Argfs)	675	BRCA2	Pathogenic	80359535	RCV000044749; RCV000113481;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914263	32914266	NM_000059.3:c.5771_5774delTTCA	NP_000050.2:p.Ile1924Argfs	NC_000013.10:g.32914263_32914266delTTCA	Breast Cancer Information Core (BRCA2):5999&base_change=del TTCA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5773C>T (p.Gln1925Ter)	675	BRCA2	Pathogenic	80358806	RCV000044750; RCV000113482;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914265	32914265	NM_000059.3:c.5773C>T	NP_000050.2:p.Gln1925Ter	NC_000013.10:g.32914265C>G,NC_000013.10:g.32914265C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5774_5777delAGAG (p.Gln1925Leufs)	675	BRCA2	not provided	397507804	RCV000044751;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914266	32914269	NM_000059.3:c.5774_5777delAGAG	NP_000050.2:p.Gln1925Leufs	NC_000013.10:g.32914266_32914269delAGAG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5778_5779delTG (p.Ser1926Argfs)	675	BRCA2	Pathogenic	80359536	RCV000044752; RCV000113483;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914270	32914271	NM_000059.3:c.5778_5779delTG	NP_000050.2:p.Ser1926Argfs	NC_000013.10:g.32914270_32914271delTG	Breast Cancer Information Core (BRCA2):6006&base_change=del TG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5782G>T (p.Glu1928Ter)	675	BRCA2	Pathogenic	56253082	RCV000160102; RCV000031577; RCV000044754;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914274	32914274	NM_000059.3:c.5782G>T	NP_000050.2:p.Glu1928Ter	NC_000013.10:g.32914274G>A,NC_000013.10:g.32914274G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_000059.3(BRCA2):c.5789T>A (p.Leu1930Ter)	675	BRCA2	not provided	397507805	RCV000044756;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914281	32914281	NM_000059.3:c.5789T>A	NP_000050.2:p.Leu1930Ter	NC_000013.10:g.32914281T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5789delT (p.Leu1930Tyrfs)	675	BRCA2	not provided	397507806	RCV000044757;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914281	32914281	NM_000059.3:c.5789delT	NP_000050.2:p.Leu1930Tyrfs	NC_000013.10:g.32914281delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5791C>T (p.Gln1931Ter)	675	BRCA2	Pathogenic	80358807	RCV000044758; RCV000077361; RCV000131105;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914283	32914283	NM_000059.3:c.5791C>T	NP_000050.2:p.Gln1931Ter	NC_000013.10:g.32914283C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5796_5797delTA (p.His1932Glnfs)	675	BRCA2	Pathogenic	80359537	RCV000044759; RCV000113484; RCV000131106;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914288	32914289	NM_000059.3:c.5796_5797delTA	NP_000050.2:p.His1932Glnfs	NC_000013.10:g.32914288_32914289delTA	Breast Cancer Information Core (BRCA2):6024&base_change=del TA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5799_5800delCC (p.Asn1933Lysfs)	675	BRCA2	not provided	397507807	RCV000044760;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914291	32914292	NM_000059.3:c.5799_5800delCC	NP_000050.2:p.Asn1933Lysfs	NC_000013.10:g.32914291_32914292delCC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5804A>G (p.Asn1935Ser)	675	BRCA2	Uncertain significance	80358808	RCV000044762; RCV000113486;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914296	32914296	NM_000059.3:c.5804A>G	NP_000050.2:p.Asn1935Ser	NC_000013.10:g.32914296A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5820_5833delGAAAGTTTCTAAAA (p.Glu1940Aspfs)	675	BRCA2	Pathogenic	80359539	RCV000044764; RCV000113488;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914312	32914325	NM_000059.3:c.5820_5833delGAAAGTTTCTAAAA	NP_000050.2:p.Glu1940Aspfs	NC_000013.10:g.32914312_32914325delGAAAGTTTCTAAAA	Breast Cancer Information Core (BRCA2):6048&base_change=del 14	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5823delA (p.Val1942Phefs)	675	BRCA2	Pathogenic	80359540	RCV000044765; RCV000113489; RCV000217033;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914315	32914315	NM_000059.3:c.5823delA	NP_000050.2:p.Val1942Phefs	NC_000013.10:g.32914315delA	Breast Cancer Information Core (BRCA2):6051&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.5828delC (p.Ser1943Leufs)	675	BRCA2	Pathogenic	80359541	RCV000044766; RCV000031580; RCV000195355; RCV000131318;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914320	32914320	NM_000059.3:c.5828delC	NP_000050.2:p.Ser1943Leufs	NC_000013.10:g.32914320delC	Breast Cancer Information Core (BRCA2):6056&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5829_5830delTA (p.Lys1944Asnfs)	675	BRCA2	not provided	397507808	RCV000044767;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914321	32914322	NM_000059.3:c.5829_5830delTA	NP_000050.2:p.Lys1944Asnfs	NC_000013.10:g.32914321_32914322delTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5835_5843dupATCACCTTG (p.Cys1948_Glu2282delinsTer)	675	BRCA2	not provided	397507809	RCV000044769;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914327	32914335	NM_000059.3:c.5835_5843dupATCACCTTG	NP_000050.2:p.Cys1948_Glu2282delinsTer	NC_000013.10:g.32914327_32914335dupATCACCTTG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5836T>C (p.Ser1946Pro)	675	BRCA2	Uncertain significance	80358811	RCV000044770; RCV000113490; RCV000222466; RCV000129417;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914328	32914328	NM_000059.3:c.5836T>C	NP_000050.2:p.Ser1946Pro	NC_000013.10:g.32914328T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5836_5837insA (p.Ser1946Tyrfs)	675	BRCA2	Pathogenic	80359542	RCV000044771; RCV000113491;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914328	32914329	NM_000059.3:c.5836_5837insA	NP_000050.2:p.Ser1946Tyrfs	NC_000013.10:g.32914328_32914329insA	Breast Cancer Information Core (BRCA2):6064&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5851_5854delAGTT (p.Ser1951Trpfs)	675	BRCA2	Likely pathogenic;Pathogenic	80359543	RCV000044773; RCV000031582; RCV000131116;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914343	32914346	NM_000059.3:c.5851_5854delAGTT	NP_000050.2:p.Ser1951Trpfs	NC_000013.10:g.32914343_32914346delAGTT	Breast Cancer Information Core (BRCA2):6076&base_change=del GTTA,Breast Cancer Information Core (BRCA2):6079&base_change=del AGTT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5851_5854dupAGTT (p.Leu1952Terfs)	675	BRCA2	not provided	397507810	RCV000044774;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914343	32914346	NM_000059.3:c.5851_5854dupAGTT	NP_000050.2:p.Leu1952Terfs	NC_000013.10:g.32914343_32914346dupAGTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5857delG (p.Glu1953Lysfs)	675	BRCA2	Pathogenic	80359545	RCV000044776; RCV000113495;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914349	32914349	NM_000059.3:c.5857delG	NP_000050.2:p.Glu1953Lysfs	NC_000013.10:g.32914349delG	Breast Cancer Information Core (BRCA2):6085&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5864C>G (p.Ser1955Ter)	675	BRCA2	Pathogenic	80358815	RCV000044778; RCV000131666;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914356	32914356	NM_000059.3:c.5864C>G	NP_000050.2:p.Ser1955Ter	NC_000013.10:g.32914356C>A,NC_000013.10:g.32914356C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5866G>C (p.Asp1956His)	675	BRCA2	Uncertain significance	80358816	RCV000044779; RCV000113497;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914358	32914358	NM_000059.3:c.5866G>C	NP_000050.2:p.Asp1956His	NC_000013.10:g.32914358G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5869A>G (p.Ile1957Val)	675	BRCA2	Likely benign;Uncertain significance	80358817	RCV000044780; RCV000113498; RCV000203620; RCV000168584; RCV000129497;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914361	32914361	NM_000059.3:c.5869A>G	NP_000050.2:p.Ile1957Val	NC_000013.10:g.32914361A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5879G>A (p.Cys1960Tyr)	675	BRCA2	Benign;Likely benign;Uncertain significance	56157628	RCV000044781; RCV000031584; RCV000167827; RCV000130706;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914371	32914371	NM_000059.3:c.5879G>A	NP_000050.2:p.Cys1960Tyr	NC_000013.10:g.32914371G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5882G>A (p.Ser1961Asn)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358820	RCV000044784; RCV000031585; RCV000128953;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914374	32914374	NM_000059.3:c.5882G>A	NP_000050.2:p.Ser1961Asn	NC_000013.10:g.32914374G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5890delA (p.Lys1964Serfs)	675	BRCA2	Pathogenic	276174864	RCV000044785; RCV000113499;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914382	32914382	NM_000059.3:c.5890delA	NP_000050.2:p.Lys1964Serfs	NC_000013.10:g.32914382delA	Breast Cancer Information Core (BRCA2):6118&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5891A>G (p.Lys1964Arg)	675	BRCA2	Uncertain significance	80358821	RCV000044786; RCV000113500;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914383	32914383	NM_000059.3:c.5891A>G	NP_000050.2:p.Lys1964Arg	NC_000013.10:g.32914383A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr)	675	BRCA2	Likely benign;Uncertain significance	80358822	RCV000044787; RCV000031586; RCV000131689;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914388	32914388	NM_000059.3:c.5896C>T	NP_000050.2:p.His1966Tyr	NC_000013.10:g.32914388C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5897A>G (p.His1966Arg)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358823	RCV000044788; RCV000031587; RCV000195373; RCV000168585; RCV000130475;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914389	32914389	NM_000059.3:c.5897A>G	NP_000050.2:p.His1966Arg	NC_000013.10:g.32914389A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.5898delT (p.His1966Glnfs)	675	BRCA2	not provided	397507811	RCV000044789;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914390	32914390	NM_000059.3:c.5898delT	NP_000050.2:p.His1966Glnfs	NC_000013.10:g.32914390delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5904_5907delAGTC (p.Val1969Hisfs)	675	BRCA2	Pathogenic	80359547	RCV000044790; RCV000113502;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914396	32914399	NM_000059.3:c.5904_5907delAGTC	NP_000050.2:p.Val1969Hisfs	NC_000013.10:g.32914396_32914399delAGTC	Breast Cancer Information Core (BRCA2):6132&base_change=del AGTC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5909C>A (p.Ser1970Ter)	675	BRCA2	Pathogenic	80358824	RCV000044791; RCV000031588; RCV000131108;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914401	32914401	NM_000059.3:c.5909C>A	NP_000050.2:p.Ser1970Ter	NC_000013.10:g.32914401C>A,NC_000013.10:g.32914401C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5925T>A (p.Cys1975Ter)	675	BRCA2	Pathogenic	80358825	RCV000044792; RCV000113503;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914417	32914417	NM_000059.3:c.5925T>A	NP_000050.2:p.Cys1975Ter	NC_000013.10:g.32914417T>A,NC_000013.10:g.32914417T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5925T>G (p.Cys1975Trp)	675	BRCA2	Uncertain significance	80358825	RCV000044793; RCV000113504;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914417	32914417	NM_000059.3:c.5925T>G	NP_000050.2:p.Cys1975Trp	NC_000013.10:g.32914417T>A,NC_000013.10:g.32914417T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5939C>T (p.Thr1980Ile)	675	BRCA2	Uncertain significance	80358827	RCV000044794; RCV000113506;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914431	32914431	NM_000059.3:c.5939C>T	NP_000050.2:p.Thr1980Ile	NC_000013.10:g.32914431C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5944delA (p.Ser1982Valfs)	675	BRCA2	not provided	796460349	RCV000044795;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914436	32914436	NM_000059.3:c.5944delA	NP_000050.2:p.Ser1982Valfs	NC_000013.10:g.32914436delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5945dupG (p.Ser1982Argfs)	675	BRCA2	not provided	397507812	RCV000044797;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914437	32914437	NM_000059.3:c.5945dupG	NP_000050.2:p.Ser1982Argfs	NC_000013.10:g.32914437dupG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs)	675	BRCA2	Pathogenic;risk factor	80359550	RCV000044800; RCV000009910; RCV000009911; RCV000009912; RCV000034451; RCV000212245; RCV000129627;	Y	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C1838457,OMIM:605724,ORPHA:319462; MedGen:C2675520,OMIM:612555; MedGen:C3150546,OMIM:613347; MedGen:CN221809	13	32914438	32914438	NM_000059.3:c.5946delT	NP_000050.2:p.Ser1982Argfs	NC_000013.10:g.32914438delT	Breast Cancer Information Core (BRCA2):6174&base_change=del T,OMIM Allelic Variant:600185.0009	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C1838457 605724 Fanconi anemia, complementation group D1; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing synd
NM_000059.3(BRCA2):c.5946_5949delTGGA (p.Ser1982Argfs)	675	BRCA2	Pathogenic	80359549	RCV000044798; RCV000113508;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914438	32914441	NM_000059.3:c.5946_5949delTGGA	NP_000050.2:p.Ser1982Argfs	NC_000013.10:g.32914438_32914441delTGGA	Breast Cancer Information Core (BRCA2):6174&base_change=del TGGA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5946_5950delTGGAA (p.Ser1982Argfs)	675	BRCA2	not provided	397507813	RCV000044799;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914438	32914442	NM_000059.3:c.5946_5950delTGGAA	NP_000050.2:p.Ser1982Argfs	NC_000013.10:g.32914438_32914442delTGGAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5952dupA (p.Ser1985Ilefs)	675	BRCA2	Pathogenic	397507814	RCV000044801; RCV000162056;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914444	32914444	NM_000059.3:c.5952dupA	NP_000050.2:p.Ser1985Ilefs	NC_000013.10:g.32914444dupA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5954_5955delCT (p.Ser1985Cysfs)	675	BRCA2	Pathogenic	80359551	RCV000044802; RCV000113509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914446	32914447	NM_000059.3:c.5954_5955delCT	NP_000050.2:p.Ser1985Cysfs	NC_000013.10:g.32914446_32914447delCT	Breast Cancer Information Core (BRCA2):6181&base_change=del TC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5959C>T (p.Gln1987Ter)	675	BRCA2	Pathogenic	80358828	RCV000044803; RCV000113510;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914451	32914451	NM_000059.3:c.5959C>T	NP_000050.2:p.Gln1987Ter	NC_000013.10:g.32914451C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5964_5965delAT (p.Ser1989Argfs)	675	BRCA2	not provided	397507817	RCV000044805;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914456	32914457	NM_000059.3:c.5964_5965delAT	NP_000050.2:p.Ser1989Argfs	NC_000013.10:g.32914456_32914457delAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5967dupA (p.Asp1990Argfs)	675	BRCA2	Pathogenic	276174865	RCV000044806; RCV000113511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914459	32914459	NM_000059.3:c.5967dupA	NP_000050.2:p.Asp1990Argfs	NC_000013.10:g.32914459dupA	Breast Cancer Information Core (BRCA2):6195&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5968_5969delGA (p.Asp1990Cysfs)	675	BRCA2	Pathogenic	80359552	RCV000044807; RCV000113512;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914460	32914461	NM_000059.3:c.5968_5969delGA	NP_000050.2:p.Asp1990Cysfs	NC_000013.10:g.32914460_32914461delGA	Breast Cancer Information Core (BRCA2):6196&base_change=del GA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5972C>T (p.Ala1991Val)	675	BRCA2	Uncertain significance	80358829	RCV000044808; RCV000113513;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914464	32914464	NM_000059.3:c.5972C>T	NP_000050.2:p.Ala1991Val	NC_000013.10:g.32914464C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5975C>T (p.Ser1992Leu)	675	BRCA2	Uncertain significance	80358830	RCV000044809; RCV000113514;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914467	32914467	NM_000059.3:c.5975C>T	NP_000050.2:p.Ser1992Leu	NC_000013.10:g.32914467C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5981A>G (p.Gln1994Arg)	675	BRCA2	Uncertain significance	80358832	RCV000044811; RCV000113515;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914473	32914473	NM_000059.3:c.5981A>G	NP_000050.2:p.Gln1994Arg	NC_000013.10:g.32914473A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5984dupA (p.Asn1995Lysfs)	675	BRCA2	not provided	397507818	RCV000044812;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914476	32914476	NM_000059.3:c.5984dupA	NP_000050.2:p.Asn1995Lysfs	NC_000013.10:g.32914476dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358833	RCV000044813; RCV000077366; RCV000195331; RCV000129689;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914478	32914478	NM_000059.3:c.5986G>A	NP_000050.2:p.Ala1996Thr	NC_000013.10:g.32914478G>A,NC_000013.10:g.32914478G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.5992C>T (p.Gln1998Ter)	675	BRCA2	not provided	397507819	RCV000044814;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914484	32914484	NM_000059.3:c.5992C>T	NP_000050.2:p.Gln1998Ter	NC_000013.10:g.32914484C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.5998T>G (p.Phe2000Val)	675	BRCA2	Uncertain significance	730881541	RCV000160104;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914490	32914490	NM_000059.3:c.5998T>G	NP_000050.2:p.Phe2000Val	NC_000013.10:g.32914490T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6001delT (p.Ser2001Leufs)	675	BRCA2	Pathogenic	80359553	RCV000044817; RCV000113518;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914493	32914493	NM_000059.3:c.6001delT	NP_000050.2:p.Ser2001Leufs	NC_000013.10:g.32914493delT	Breast Cancer Information Core (BRCA2):6229&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6008T>C (p.Ile2003Thr)	675	BRCA2	Uncertain significance	80358837	RCV000044818; RCV000113519;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914500	32914500	NM_000059.3:c.6008T>C	NP_000050.2:p.Ile2003Thr	NC_000013.10:g.32914500T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6018T>A (p.Ser2006Arg)	675	BRCA2	not provided	397507821	RCV000044819;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914510	32914510	NM_000059.3:c.6018T>A	NP_000050.2:p.Ser2006Arg	NC_000013.10:g.32914510T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6024dupG (p.Gln2009Alafs)	675	BRCA2	Pathogenic	80359554	RCV000044820; RCV000031596; RCV000131918;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914516	32914516	NM_000059.3:c.6024dupG	NP_000050.2:p.Gln2009Alafs	NC_000013.10:g.32914516dupG	Breast Cancer Information Core (BRCA2):6252&base_change=ins G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6024G>C (p.Lys2008Asn)	675	BRCA2	Uncertain significance	56324666	RCV000160105; RCV000204438; RCV000129322;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	13	32914516	32914516	NM_000059.3:c.6024G>C	NP_000050.2:p.Lys2008Asn	NC_000013.10:g.32914516G>C	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6025C>T (p.Gln2009Ter)	675	BRCA2	Pathogenic	80358838	RCV000044821; RCV000113520; RCV000213281;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914517	32914517	NM_000059.3:c.6025C>T	NP_000050.2:p.Gln2009Ter	NC_000013.10:g.32914517C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6029T>G (p.Val2010Gly)	675	BRCA2	Uncertain significance	80358839	RCV000044822; RCV000077367; RCV000212246; RCV000129746;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914521	32914521	NM_000059.3:c.6029T>G	NP_000050.2:p.Val2010Gly	NC_000013.10:g.32914521T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6033_6034delTT (p.Ser2012Glnfs)	675	BRCA2	Pathogenic	397507823	RCV000044824; RCV000165674;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914525	32914526	NM_000059.3:c.6033_6034delTT	NP_000050.2:p.Ser2012Glnfs	NC_000013.10:g.32914525_32914526delTT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6033_6034insGT (p.Ser2012Valfs)	675	BRCA2	not provided	397507824	RCV000044825;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914525	32914526	NM_000059.3:c.6033_6034insGT	NP_000050.2:p.Ser2012Valfs	NC_000013.10:g.32914525_32914526insGT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6037A>G (p.Lys2013Glu)	675	BRCA2	Uncertain significance	80358840	RCV000044826; RCV000083121; RCV000162633;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914529	32914529	NM_000059.3:c.6037A>G	NP_000050.2:p.Lys2013Glu	NC_000013.10:g.32914529A>G,NC_000013.10:g.32914529A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6058G>T (p.Glu2020Ter)	675	BRCA2	not provided	80358842	RCV000044828;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914550	32914550	NM_000059.3:c.6058G>T	NP_000050.2:p.Glu2020Ter	NC_000013.10:g.32914550G>A,NC_000013.10:g.32914550G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6060_6063delACAT (p.Glu2020Aspfs)	675	BRCA2	not provided	397507825	RCV000044829;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914552	32914555	NM_000059.3:c.6060_6063delACAT	NP_000050.2:p.Glu2020Aspfs	NC_000013.10:g.32914552_32914555delACAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6065C>G (p.Ser2022Ter)	675	BRCA2	Pathogenic	80358843	RCV000044830; RCV000113522; RCV000217928;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914557	32914557	NM_000059.3:c.6065C>G	NP_000050.2:p.Ser2022Ter	NC_000013.10:g.32914557C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6068_6072delACCAG (p.Asp2023Alafs)	675	BRCA2	Pathogenic	80359555	RCV000044831; RCV000113523; RCV000162928;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914560	32914564	NM_000059.3:c.6068_6072delACCAG	NP_000050.2:p.Asp2023Alafs	NC_000013.10:g.32914560_32914564delACCAG	Breast Cancer Information Core (BRCA2):6296&base_change=del ACCAG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6070C>T (p.Gln2024Ter)	675	BRCA2	Pathogenic	80358844	RCV000044832; RCV000113524; RCV000162929;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914562	32914562	NM_000059.3:c.6070C>T	NP_000050.2:p.Gln2024Ter	NC_000013.10:g.32914562C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6071delA (p.Gln2024Argfs)	675	BRCA2	Pathogenic	80359556	RCV000044834; RCV000113526;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914563	32914563	NM_000059.3:c.6071delA	NP_000050.2:p.Gln2024Argfs	NC_000013.10:g.32914563delA	Breast Cancer Information Core (BRCA2):6299&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6078_6079delAA (p.Glu2028Argfs)	675	BRCA2	Pathogenic	80359557	RCV000044835; RCV000113527;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914570	32914571	NM_000059.3:c.6078_6079delAA	NP_000050.2:p.Glu2028Argfs	NC_000013.10:g.32914570_32914571delAA	Breast Cancer Information Core (BRCA2):6306&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6079A>G (p.Arg2027Gly)	675	BRCA2	Uncertain significance	80358846	RCV000044836; RCV000113528;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914571	32914571	NM_000059.3:c.6079A>G	NP_000050.2:p.Arg2027Gly	NC_000013.10:g.32914571A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6079dupA (p.Arg2027Lysfs)	675	BRCA2	Pathogenic	397507826	RCV000044837; RCV000076953; RCV000132018;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914571	32914571	NM_000059.3:c.6079dupA	NP_000050.2:p.Arg2027Lysfs	NC_000013.10:g.32914571dupA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6082G>T (p.Glu2028Ter)	675	BRCA2	not provided	397507827	RCV000044838;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914574	32914574	NM_000059.3:c.6082G>T	NP_000050.2:p.Glu2028Ter	NC_000013.10:g.32914574G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6082_6086delGAAGA (p.Glu2028Lysfs)	675	BRCA2	Pathogenic	80359558	RCV000044839; RCV000077368; RCV000131112;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914574	32914578	NM_000059.3:c.6082_6086delGAAGA	NP_000050.2:p.Glu2028Lysfs	NC_000013.10:g.32914574_32914578delGAAGA	Breast Cancer Information Core (BRCA2):6310&base_change=del GAAGA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6085G>T (p.Glu2029Ter)	675	BRCA2	not provided	397507828	RCV000044840;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914577	32914577	NM_000059.3:c.6085G>T	NP_000050.2:p.Glu2029Ter	NC_000013.10:g.32914577G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6086A>G (p.Glu2029Gly)	675	BRCA2	Uncertain significance	80358847	RCV000044841; RCV000113529;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914578	32914578	NM_000059.3:c.6086A>G	NP_000050.2:p.Glu2029Gly	NC_000013.10:g.32914578A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6096dupT (p.Ile2033Tyrfs)	675	BRCA2	Pathogenic	397507829	RCV000044842; RCV000216541;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914588	32914588	NM_000059.3:c.6096dupT	NP_000050.2:p.Ile2033Tyrfs	NC_000013.10:g.32914588dupT	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6099A>G (p.Ile2033Met)	675	BRCA2	Uncertain significance	80358848	RCV000044843; RCV000113531; RCV000164759;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914591	32914591	NM_000059.3:c.6099A>G	NP_000050.2:p.Ile2033Met	NC_000013.10:g.32914591A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6101G>A (p.Arg2034His)	675	BRCA2	Uncertain significance	80358849	RCV000044845; RCV000083122; RCV000120341; RCV000166225;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914593	32914593	NM_000059.3:c.6101G>A	NP_000050.2:p.Arg2034His	NC_000013.10:g.32914593G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6103delA (p.Thr2035Leufs)	675	BRCA2	Pathogenic	80359559	RCV000044846; RCV000113533;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914595	32914595	NM_000059.3:c.6103delA	NP_000050.2:p.Thr2035Leufs	NC_000013.10:g.32914595delA	Breast Cancer Information Core (BRCA2):6331&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6118A>T (p.Ile2040Leu)	675	BRCA2	Uncertain significance	80358850	RCV000044849; RCV000113534; RCV000129331;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914610	32914610	NM_000059.3:c.6118A>T	NP_000050.2:p.Ile2040Leu	NC_000013.10:g.32914610A>G,NC_000013.10:g.32914610A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6125A>C (p.Gln2042Pro)	675	BRCA2	Likely benign;Uncertain significance	80358852	RCV000044851; RCV000031599; RCV000203091; RCV000131951;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914617	32914617	NM_000059.3:c.6125A>C	NP_000050.2:p.Gln2042Pro	NC_000013.10:g.32914617A>C,NC_000013.10:g.32914617A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6129dupA (p.Gly2044Argfs)	675	BRCA2	Pathogenic	80359561	RCV000044852; RCV000113535;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914621	32914621	NM_000059.3:c.6129dupA	NP_000050.2:p.Gly2044Argfs	NC_000013.10:g.32914621dupA	Breast Cancer Information Core (BRCA2):6357&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6148G>A (p.Val2050Ile)	675	BRCA2	Uncertain significance	80358854	RCV000044855; RCV000083123;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914640	32914640	NM_000059.3:c.6148G>A	NP_000050.2:p.Val2050Ile	NC_000013.10:g.32914640G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6154delT (p.Ser2052Hisfs)	675	BRCA2	Pathogenic	80359562	RCV000044856; RCV000113537;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914646	32914646	NM_000059.3:c.6154delT	NP_000050.2:p.Ser2052Hisfs	NC_000013.10:g.32914646delT	Breast Cancer Information Core (BRCA2):6382&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6160G>C (p.Ala2054Pro)	675	BRCA2	Uncertain significance	80358855	RCV000044857; RCV000113538;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914652	32914652	NM_000059.3:c.6160G>C	NP_000050.2:p.Ala2054Pro	NC_000013.10:g.32914652G>A,NC_000013.10:g.32914652G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6164delT (p.Phe2055Serfs)	675	BRCA2	not provided	397507831	RCV000044858;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914656	32914656	NM_000059.3:c.6164delT	NP_000050.2:p.Phe2055Serfs	NC_000013.10:g.32914656delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6169G>T (p.Gly2057Ter)	675	BRCA2	Pathogenic	80358856	RCV000044859; RCV000113540;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914661	32914661	NM_000059.3:c.6169G>T	NP_000050.2:p.Gly2057Ter	NC_000013.10:g.32914661G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6172T>A (p.Phe2058Ile)	675	BRCA2	Likely benign;Uncertain significance	80358857	RCV000044860; RCV000083124; RCV000212247; RCV000129210;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914664	32914664	NM_000059.3:c.6172T>A	NP_000050.2:p.Phe2058Ile	NC_000013.10:g.32914664T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6178delA (p.Thr2060Glnfs)	675	BRCA2	Pathogenic	80359563	RCV000044861; RCV000113541;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914670	32914670	NM_000059.3:c.6178delA	NP_000050.2:p.Thr2060Glnfs	NC_000013.10:g.32914670delA	Breast Cancer Information Core (BRCA2):6406&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6198_6199delTT (p.Ser2067Hisfs)	675	BRCA2	Pathogenic	80359564	RCV000044863; RCV000113542;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914690	32914691	NM_000059.3:c.6198_6199delTT	NP_000050.2:p.Ser2067Hisfs	NC_000013.10:g.32914690_32914691delTT	Breast Cancer Information Core (BRCA2):6426&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6201delC (p.Ile2068Phefs)	675	BRCA2	Pathogenic	80359565	RCV000044865; RCV000113543; RCV000223404;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914693	32914693	NM_000059.3:c.6201delC	NP_000050.2:p.Ile2068Phefs	NC_000013.10:g.32914693delC	Breast Cancer Information Core (BRCA2):6429&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6202dupA (p.Ile2068Asnfs)	675	BRCA2	Pathogenic	397507833	RCV000044866; RCV000162057; RCV000129495;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914694	32914694	NM_000059.3:c.6202dupA	NP_000050.2:p.Ile2068Asnfs	NC_000013.10:g.32914694dupA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6206T>G (p.Leu2069Ter)	675	BRCA2	Pathogenic	80358859	RCV000044867; RCV000031607;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914698	32914698	NM_000059.3:c.6206T>G	NP_000050.2:p.Leu2069Ter	NC_000013.10:g.32914698T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6206delT (p.Leu2069Terfs)	675	BRCA2	not provided	397507834	RCV000044868;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914698	32914698	NM_000059.3:c.6206delT	NP_000050.2:p.Leu2069Terfs	NC_000013.10:g.32914698delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6209_6212delAAAG (p.Glu2070Valfs)	675	BRCA2	Pathogenic	276174866	RCV000044869; RCV000113545; RCV000213143;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914701	32914704	NM_000059.3:c.6209_6212delAAAG	NP_000050.2:p.Glu2070Valfs	NC_000013.10:g.32914701_32914704delAAAG	Breast Cancer Information Core (BRCA2):6437&base_change=del AAAG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6211A>C (p.Ser2071Arg)	675	BRCA2	Uncertain significance	80358860	RCV000044870; RCV000113547;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914703	32914703	NM_000059.3:c.6211A>C	NP_000050.2:p.Ser2071Arg	NC_000013.10:g.32914703A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6212G>T (p.Ser2071Ile)	675	BRCA2	Uncertain significance	80358861	RCV000044871; RCV000113548; RCV000215878;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914704	32914704	NM_000059.3:c.6212G>T	NP_000050.2:p.Ser2071Ile	NC_000013.10:g.32914704G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6215C>G (p.Ser2072Cys)	675	BRCA2	Uncertain significance	80358862	RCV000044872; RCV000031608; RCV000120333; RCV000130542;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914707	32914707	NM_000059.3:c.6215C>G	NP_000050.2:p.Ser2072Cys	NC_000013.10:g.32914707C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6216delC (p.Leu2073Tyrfs)	675	BRCA2	Pathogenic	80359567	RCV000044873; RCV000113549; RCV000129977;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914708	32914708	NM_000059.3:c.6216delC	NP_000050.2:p.Leu2073Tyrfs	NC_000013.10:g.32914708delC	Breast Cancer Information Core (BRCA2):6444&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6220_6222delCACinsAA (p.His2074Lysfs)	675	BRCA2	Pathogenic	276174867	RCV000044875; RCV000113551;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914712	32914714	NM_000059.3:c.6220_6222delCACinsAA	NP_000050.2:p.His2074Lysfs	NC_000013.10:g.32914712_32914714delCACinsAA	Breast Cancer Information Core (BRCA2):6448&base_change=del CAC ins AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6235delG (p.Val2079Cysfs)	675	BRCA2	not provided	397507835	RCV000044876;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914727	32914727	NM_000059.3:c.6235delG	NP_000050.2:p.Val2079Cysfs	NC_000013.10:g.32914727delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6238delT (p.Leu2080Terfs)	675	BRCA2	Pathogenic	80359569	RCV000044877; RCV000113553;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914730	32914730	NM_000059.3:c.6238delT	NP_000050.2:p.Leu2080Terfs	NC_000013.10:g.32914730delT	Breast Cancer Information Core (BRCA2):6466&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6239T>G (p.Leu2080Ter)	675	BRCA2	Pathogenic	80358864	RCV000044878; RCV000113554;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914731	32914731	NM_000059.3:c.6239T>G	NP_000050.2:p.Leu2080Ter	NC_000013.10:g.32914731T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6240dupA (p.Glu2081Argfs)	675	BRCA2	Pathogenic	80359570	RCV000044880; RCV000113555;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914732	32914732	NM_000059.3:c.6240dupA	NP_000050.2:p.Glu2081Argfs	NC_000013.10:g.32914732dupA	Breast Cancer Information Core (BRCA2):6468&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6267_6269delGCAinsC (p.Glu2089Aspfs)	675	BRCA2	Pathogenic	276174868	RCV000044881; RCV000031610; RCV000129598;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914759	32914761	NM_000059.3:c.6267_6269delGCAinsC	NP_000050.2:p.Glu2089Aspfs	NC_000013.10:g.32914759_32914761delGCAinsC	Breast Cancer Information Core (BRCA2):6495&base_change=del GCA ins C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6267_6270dupGCAT (p.Ser2091Alafs)	675	BRCA2	Pathogenic	730881611	RCV000160299;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914759	32914762	NM_000059.3:c.6267_6270dupGCAT	NP_000050.2:p.Ser2091Alafs	NC_000013.10:g.32914759_32914762dupGCAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6268_6269delCA (p.His2090Terfs)	675	BRCA2	not provided	397507836	RCV000044882;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914760	32914761	NM_000059.3:c.6268_6269delCA	NP_000050.2:p.His2090Terfs	NC_000013.10:g.32914760_32914761delCA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6270_6271delTA (p.His2090Glnfs)	675	BRCA2	Pathogenic	80359571	RCV000044883; RCV000113557;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914762	32914763	NM_000059.3:c.6270_6271delTA	NP_000050.2:p.His2090Glnfs	NC_000013.10:g.32914762_32914763delTA	Breast Cancer Information Core (BRCA2):6498&base_change=del TA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6274C>G (p.Leu2092Val)	675	BRCA2	Uncertain significance	587779365	RCV000074547;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914766	32914766	NM_000059.3:c.6274C>G	NP_000050.2:p.Leu2092Val	NC_000013.10:g.32914766C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6276delT (p.His2093Thrfs)	675	BRCA2	not provided	397507837	RCV000044885;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914768	32914768	NM_000059.3:c.6276delT	NP_000050.2:p.His2093Thrfs	NC_000013.10:g.32914768delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6280_6286delTATTCAC (p.Tyr2094Leufs)	675	BRCA2	Pathogenic	80359572	RCV000044886; RCV000113558;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914772	32914778	NM_000059.3:c.6280_6286delTATTCAC	NP_000050.2:p.Tyr2094Leufs	NC_000013.10:g.32914772_32914778delTATTCAC	Breast Cancer Information Core (BRCA2):6508&base_change=del TATTCAC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6281A>G (p.Tyr2094Cys)	675	BRCA2	Uncertain significance	397507838	RCV000044887; RCV000083125;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914773	32914773	NM_000059.3:c.6281A>G	NP_000050.2:p.Tyr2094Cys	NC_000013.10:g.32914773A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6282_6289delTTCACCTA (p.Ser2095Valfs)	675	BRCA2	Pathogenic	80359573	RCV000044888; RCV000113559;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914774	32914781	NM_000059.3:c.6282_6289delTTCACCTA	NP_000050.2:p.Ser2095Valfs	NC_000013.10:g.32914774_32914781delTTCACCTA	Breast Cancer Information Core (BRCA2):6510&base_change=del TTCACCTA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6293C>T (p.Ser2098Phe)	675	BRCA2	Uncertain significance	80358867	RCV000044890; RCV000113560; RCV000222689;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914785	32914785	NM_000059.3:c.6293C>T	NP_000050.2:p.Ser2098Phe	NC_000013.10:g.32914785C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6296G>C (p.Arg2099Thr)	675	BRCA2	Uncertain significance	80358868	RCV000044891; RCV000113561;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914788	32914788	NM_000059.3:c.6296G>C	NP_000050.2:p.Arg2099Thr	NC_000013.10:g.32914788G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6302delA (p.Asn2101Metfs)	675	BRCA2	not provided	397507839	RCV000044892;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914794	32914794	NM_000059.3:c.6302delA	NP_000050.2:p.Asn2101Metfs	NC_000013.10:g.32914794delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6304G>T (p.Val2102Leu)	675	BRCA2	Uncertain significance	80358869	RCV000044893; RCV000113563;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914796	32914796	NM_000059.3:c.6304G>T	NP_000050.2:p.Val2102Leu	NC_000013.10:g.32914796G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6308C>A (p.Ser2103Ter)	675	BRCA2	Pathogenic	80358870	RCV000044894; RCV000113564; RCV000217398;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32914800	32914800	NM_000059.3:c.6308C>A	NP_000050.2:p.Ser2103Ter	NC_000013.10:g.32914800C>A,NC_000013.10:g.32914800C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.6325_6326delGT (p.Val2109Terfs)	675	BRCA2	Pathogenic	276174871	RCV000044914; RCV000113574;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914817	32914818	NM_000059.3:c.6325_6326delGT	NP_000050.2:p.Val2109Terfs	NC_000013.10:g.32914817_32914818delGT	Breast Cancer Information Core (BRCA2):6553&base_change=del GT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6329A>C (p.Asp2110Ala)	675	BRCA2	Uncertain significance	80358873	RCV000044915; RCV000113575;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914821	32914821	NM_000059.3:c.6329A>C	NP_000050.2:p.Asp2110Ala	NC_000013.10:g.32914821A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6335_6336delGA (p.Arg2112Lysfs)	675	BRCA2	Pathogenic	80359574	RCV000044917; RCV000113576;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914827	32914828	NM_000059.3:c.6335_6336delGA	NP_000050.2:p.Arg2112Lysfs	NC_000013.10:g.32914827_32914828delGA	Breast Cancer Information Core (BRCA2):6563&base_change=del GA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser)	675	BRCA2	Benign	80358874	RCV000044918; RCV000031621; RCV000167817; RCV000034455; RCV000131603;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32914830	32914830	NM_000059.3:c.6338A>G	NP_000050.2:p.Asn2113Ser	NC_000013.10:g.32914830A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg)	675	BRCA2	Benign;Likely benign	55953736	RCV000044919; RCV000113577; RCV000167845; RCV000034456; RCV000120324; RCV000131142; RCV000148423;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221562; MedGen:CN221809	13	32914839	32914839	NM_000059.3:c.6347A>G	NP_000050.2:p.His2116Arg	NC_000013.10:g.32914839A>G	-	CN221562 Breast and/or ovarian cancer; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 no
NM_000059.3(BRCA2):c.6352_6353delGT (p.Val2118Lysfs)	675	BRCA2	Pathogenic	80359576	RCV000044921; RCV000113578; RCV000217850;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914844	32914845	NM_000059.3:c.6352_6353delGT	NP_000050.2:p.Val2118Lysfs	NC_000013.10:g.32914844_32914845delGT	Breast Cancer Information Core (BRCA2):6580&base_change=del GT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6353_6366delTAAACTCAGAAATG (p.Val2118Glyfs)	675	BRCA2	not provided	397507844	RCV000044922;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914845	32914858	NM_000059.3:c.6353_6366delTAAACTCAGAAATG	NP_000050.2:p.Val2118Glyfs	NC_000013.10:g.32914845_32914858delTAAACTCAGAAATG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6359C>G (p.Ser2120Ter)	675	BRCA2	not provided	397507845	RCV000044923;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914851	32914851	NM_000059.3:c.6359C>G	NP_000050.2:p.Ser2120Ter	NC_000013.10:g.32914851C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6362A>G (p.Glu2121Gly)	675	BRCA2	Likely benign	397507846	RCV000044924; RCV000083126;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914854	32914854	NM_000059.3:c.6362A>G	NP_000050.2:p.Glu2121Gly	NC_000013.10:g.32914854A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6373dupA (p.Thr2125Asnfs)	675	BRCA2	Pathogenic	80359577	RCV000044926; RCV000031623; RCV000203626; RCV000164585;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914865	32914865	NM_000059.3:c.6373dupA	NP_000050.2:p.Thr2125Asnfs	NC_000013.10:g.32914865dupA	Breast Cancer Information Core (BRCA2):6601&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6373delA (p.Thr2125Profs)	675	BRCA2	Pathogenic	80359578	RCV000044925; RCV000077372; RCV000217749;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32914865	32914865	NM_000059.3:c.6373delA	NP_000050.2:p.Thr2125Profs	NC_000013.10:g.32914865delA	Breast Cancer Information Core (BRCA2):6601&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.6382A>T (p.Lys2128Ter)	675	BRCA2	Pathogenic	80358875	RCV000044927; RCV000113580;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914874	32914874	NM_000059.3:c.6382A>T	NP_000050.2:p.Lys2128Ter	NC_000013.10:g.32914874A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6384A>C (p.Lys2128Asn)	675	BRCA2	not provided	397507847	RCV000044928;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914876	32914876	NM_000059.3:c.6384A>C	NP_000050.2:p.Lys2128Asn	NC_000013.10:g.32914876A>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6390dupT (p.Lys2131Terfs)	675	BRCA2	not provided	397507848	RCV000044929;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914882	32914882	NM_000059.3:c.6390dupT	NP_000050.2:p.Lys2131Terfs	NC_000013.10:g.32914882dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6393_6396delATTA (p.Lys2131Asnfs)	675	BRCA2	Pathogenic	397507849	RCV000044930; RCV000211011; RCV000166186;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914885	32914888	NM_000059.3:c.6393_6396delATTA	NP_000050.2:p.Lys2131Asnfs	NC_000013.10:g.32914885_32914888delATTA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6401_6404delATAA (p.Asn2134Thrfs)	675	BRCA2	Pathogenic	80359583	RCV000044932; RCV000113582;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914893	32914896	NM_000059.3:c.6401_6404delATAA	NP_000050.2:p.Asn2134Thrfs	NC_000013.10:g.32914893_32914896delATAA	Breast Cancer Information Core (BRCA2):6629&base_change=del ATAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6406_6407delTT (p.Leu2136Lysfs)	675	BRCA2	not provided	397507850	RCV000044935;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914898	32914899	NM_000059.3:c.6406_6407delTT	NP_000050.2:p.Leu2136Lysfs	NC_000013.10:g.32914898_32914899delTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6407_6411delTAAAT (p.Leu2136Cysfs)	675	BRCA2	Pathogenic	80359586	RCV000044936; RCV000113584;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914899	32914903	NM_000059.3:c.6407_6411delTAAAT	NP_000050.2:p.Leu2136Cysfs	NC_000013.10:g.32914899_32914903delTAAAT	Breast Cancer Information Core (BRCA2):6635&base_change=del TAAAT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6408_6414delAAATGTT (p.Asn2137Lysfs)	675	BRCA2	Pathogenic	397507851	RCV000044937; RCV000166653;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914900	32914906	NM_000059.3:c.6408_6414delAAATGTT	NP_000050.2:p.Asn2137Lysfs	NC_000013.10:g.32914900_32914906delAAATGTT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe)	675	BRCA2	Benign;Uncertain significance	11571659	RCV000123984; RCV000077373; RCV000044938; RCV000120342; RCV000128955;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914904	32914904	NM_000059.3:c.6412G>T	NP_000050.2:p.Val2138Phe	NC_000013.10:g.32914904G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6413T>A (p.Val2138Asp)	675	BRCA2	Uncertain significance	80358877	RCV000044939; RCV000113585; RCV000223184; RCV000120349;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32914905	32914905	NM_000059.3:c.6413T>A	NP_000050.2:p.Val2138Asp	NC_000013.10:g.32914905T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6420T>G (p.Gly2140=)	675	BRCA2	Uncertain significance	80359794	RCV000044940; RCV000113586;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914912	32914912	NM_000059.3:c.6420T>G	NP_000050.2:p.Gly2140=	NC_000013.10:g.32914912T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6420_6421insA (p.Gly2141Argfs)	675	BRCA2	not provided	397507852	RCV000044941;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914912	32914913	NM_000059.3:c.6420_6421insA	NP_000050.2:p.Gly2141Argfs	NC_000013.10:g.32914912_32914913insA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6422dupG (p.Ser2142Phefs)	675	BRCA2	not provided	397507853	RCV000044942;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914914	32914914	NM_000059.3:c.6422dupG	NP_000050.2:p.Ser2142Phefs	NC_000013.10:g.32914914dupG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6428delC (p.Ser2143Terfs)	675	BRCA2	not provided	397507854	RCV000044943;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914920	32914920	NM_000059.3:c.6428delC	NP_000050.2:p.Ser2143Terfs	NC_000013.10:g.32914920delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6431delA (p.Asn2145Ilefs)	675	BRCA2	Pathogenic	80359587	RCV000044944; RCV000113587;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914923	32914923	NM_000059.3:c.6431delA	NP_000050.2:p.Asn2145Ilefs	NC_000013.10:g.32914923delA	Breast Cancer Information Core (BRCA2):6659&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6434_6441delATAATCAC (p.Asn2145Ilefs)	675	BRCA2	Pathogenic	397507371	RCV000044946; RCV000031626;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914926	32914933	NM_000059.3:c.6434_6441delATAATCAC	NP_000050.2:p.Asn2145Ilefs	NC_000013.10:g.32914926_32914933delATAATCAC	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6434A>G (p.Asn2145Ser)	675	BRCA2	Uncertain significance	80358878	RCV000044945; RCV000077374; RCV000212248; RCV000165446;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914926	32914926	NM_000059.3:c.6434A>G	NP_000050.2:p.Asn2145Ser	NC_000013.10:g.32914926A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6437_6440delATCA (p.Asn2146Thrfs)	675	BRCA2	not provided	397507855	RCV000044947;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914929	32914932	NM_000059.3:c.6437_6440delATCA	NP_000050.2:p.Asn2146Thrfs	NC_000013.10:g.32914929_32914932delATCA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6441C>G (p.His2147Gln)	675	BRCA2	Uncertain significance	80358879	RCV000044948; RCV000031627;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914933	32914933	NM_000059.3:c.6441C>G	NP_000050.2:p.His2147Gln	NC_000013.10:g.32914933C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6443_6444delCT (p.Ser2148Tyrfs)	675	BRCA2	Pathogenic	80359589	RCV000044950; RCV000113588;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914935	32914936	NM_000059.3:c.6443_6444delCT	NP_000050.2:p.Ser2148Tyrfs	NC_000013.10:g.32914935_32914936delCT	Breast Cancer Information Core (BRCA2):6671&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6444dupT (p.Ile2149Tyrfs)	675	BRCA2	Pathogenic	80359590	RCV000044952; RCV000031628;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914936	32914936	NM_000059.3:c.6444dupT	NP_000050.2:p.Ile2149Tyrfs	NC_000013.10:g.32914936dupT	Breast Cancer Information Core (BRCA2):6672&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6444_6447delTATT (p.Ile2149Lysfs)	675	BRCA2	Pathogenic	80359591	RCV000044951; RCV000113589;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914936	32914939	NM_000059.3:c.6444_6447delTATT	NP_000050.2:p.Ile2149Lysfs	NC_000013.10:g.32914936_32914939delTATT	Breast Cancer Information Core (BRCA2):6672&base_change=del TATT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6445_6446delAT (p.Ile2149Terfs)	675	BRCA2	Pathogenic	80359592	RCV000044953; RCV000113590;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914937	32914938	NM_000059.3:c.6445_6446delAT	NP_000050.2:p.Ile2149Terfs	NC_000013.10:g.32914937_32914938delAT	Breast Cancer Information Core (BRCA2):6673&base_change=del AT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6445delA (p.Ile2149Leufs)	675	BRCA2	not provided	397507856	RCV000044954;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914937	32914937	NM_000059.3:c.6445delA	NP_000050.2:p.Ile2149Leufs	NC_000013.10:g.32914937delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6447_6448delTA (p.Lys2150Serfs)	675	BRCA2	not provided	397507857	RCV000044956;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914939	32914940	NM_000059.3:c.6447_6448delTA	NP_000050.2:p.Lys2150Serfs	NC_000013.10:g.32914939_32914940delTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6447_6448dupTA (p.Lys2150Ilefs)	675	BRCA2	Pathogenic	397507858	RCV000044957; RCV000165176;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914939	32914940	NM_000059.3:c.6447_6448dupTA	NP_000050.2:p.Lys2150Ilefs	NC_000013.10:g.32914939_32914940dupTA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6449_6450delAA (p.Lys2150Serfs)	675	BRCA2	Pathogenic	80359594	RCV000044958; RCV000113591;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914941	32914942	NM_000059.3:c.6449_6450delAA	NP_000050.2:p.Lys2150Serfs	NC_000013.10:g.32914941_32914942delAA	Breast Cancer Information Core (BRCA2):6677&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6450dupA (p.Val2151Serfs)	675	BRCA2	Pathogenic	80359595	RCV000044960; RCV000113593; RCV000219921;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914942	32914942	NM_000059.3:c.6450dupA	NP_000050.2:p.Val2151Serfs	NC_000013.10:g.32914942dupA	Breast Cancer Information Core (BRCA2):6678&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6455C>A (p.Ser2152Tyr)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358881	RCV000044961; RCV000083128; RCV000167812; RCV000131213;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914947	32914947	NM_000059.3:c.6455C>A	NP_000050.2:p.Ser2152Tyr	NC_000013.10:g.32914947C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6458C>T (p.Pro2153Leu)	675	BRCA2	Uncertain significance	276174873	RCV000044962; RCV000113594; RCV000218559; RCV000131036;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32914950	32914950	NM_000059.3:c.6458C>T	NP_000050.2:p.Pro2153Leu	NC_000013.10:g.32914950C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6461A>C (p.Tyr2154Ser)	675	BRCA2	Uncertain significance	80358882	RCV000044963; RCV000113595; RCV000213967;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32914953	32914953	NM_000059.3:c.6461A>C	NP_000050.2:p.Tyr2154Ser	NC_000013.10:g.32914953A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6462T>G (p.Tyr2154Ter)	675	BRCA2	Pathogenic	80358883	RCV000044964; RCV000113596;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914954	32914954	NM_000059.3:c.6462T>G	NP_000050.2:p.Tyr2154Ter	NC_000013.10:g.32914954T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6468_6469delTC (p.Gln2157Ilefs)	675	BRCA2	Pathogenic	80359596	RCV000160302; RCV000031629; RCV000044965; RCV000131035;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914960	32914961	NM_000059.3:c.6468_6469delTC	NP_000050.2:p.Gln2157Ilefs	NC_000013.10:g.32914960_32914961delTC	Breast Cancer Information Core (BRCA2):6690&base_change=del TC,Breast Cancer Information Core (BRCA2):6696&base_change=del TC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6469C>T (p.Gln2157Ter)	675	BRCA2	not provided	397507859	RCV000044966;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914961	32914961	NM_000059.3:c.6469C>T	NP_000050.2:p.Gln2157Ter	NC_000013.10:g.32914961C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6475C>G (p.Gln2159Glu)	675	BRCA2	Uncertain significance	398122558	RCV000160111; RCV000076967; RCV000196558; RCV000166819;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32914967	32914967	NM_000059.3:c.6475C>G	NP_000050.2:p.Gln2159Glu	NC_000013.10:g.32914967C>G,NC_000013.10:g.32914967C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6486_6489delACAA (p.Lys2162Asnfs)	675	BRCA2	Pathogenic	80359598	RCV000044967; RCV000031630; RCV000212249; RCV000131034;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32914978	32914981	NM_000059.3:c.6486_6489delACAA	NP_000050.2:p.Lys2162Asnfs	NC_000013.10:g.32914978_32914981delACAA	Breast Cancer Information Core (BRCA2):6714&base_change=del ACAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.6490_6492delCAGinsGACT (p.Gln2164Aspfs)	675	BRCA2	not provided	397507861	RCV000044969;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914982	32914984	NM_000059.3:c.6490_6492delCAGinsGACT	NP_000050.2:p.Gln2164Aspfs	NC_000013.10:g.32914982_32914984delCAGinsGACT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6490delC (p.Gln2164Serfs)	675	BRCA2	Pathogenic	80359599	RCV000044970; RCV000113599;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914982	32914982	NM_000059.3:c.6490delC	NP_000050.2:p.Gln2164Serfs	NC_000013.10:g.32914982delC	Breast Cancer Information Core (BRCA2):6718&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6491_6494delAGTT (p.Gln2164Argfs)	675	BRCA2	not provided	397507862	RCV000044971;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914983	32914986	NM_000059.3:c.6491_6494delAGTT	NP_000050.2:p.Gln2164Argfs	NC_000013.10:g.32914983_32914986delAGTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6491_6495delAGTTG (p.Gln2164Argfs)	675	BRCA2	not provided	397507863	RCV000044972;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32914983	32914987	NM_000059.3:c.6491_6495delAGTTG	NP_000050.2:p.Gln2164Argfs	NC_000013.10:g.32914983_32914987delAGTTG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6494delT (p.Leu2165Trpfs)	675	BRCA2	Pathogenic	276174874	RCV000044973; RCV000113600;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32914986	32914986	NM_000059.3:c.6494delT	NP_000050.2:p.Leu2165Trpfs	NC_000013.10:g.32914986delT	Breast Cancer Information Core (BRCA2):6722&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6509_6510delAA (p.Lys2170Serfs)	675	BRCA2	Pathogenic	80359600	RCV000044974; RCV000113601;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915001	32915002	NM_000059.3:c.6509_6510delAA	NP_000050.2:p.Lys2170Serfs	NC_000013.10:g.32915001_32915002delAA	Breast Cancer Information Core (BRCA2):6737&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6527delA (p.Asn2176Thrfs)	675	BRCA2	not provided	397507864	RCV000044975;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915019	32915019	NM_000059.3:c.6527delA	NP_000050.2:p.Asn2176Thrfs	NC_000013.10:g.32915019delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6531_6534delTCAT (p.Ile2177Metfs)	675	BRCA2	Pathogenic	397507865	RCV000044977; RCV000221260;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32915023	32915026	NM_000059.3:c.6531_6534delTCAT	NP_000050.2:p.Ile2177Metfs	NC_000013.10:g.32915023_32915026delTCAT	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6532C>A (p.His2178Asn)	675	BRCA2	Uncertain significance	80358885	RCV000044978; RCV000113604;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915024	32915024	NM_000059.3:c.6532C>A	NP_000050.2:p.His2178Asn	NC_000013.10:g.32915024C>A,NC_000013.10:g.32915024C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6532C>T (p.His2178Tyr)	675	BRCA2	Uncertain significance	80358885	RCV000044979; RCV000113605;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915024	32915024	NM_000059.3:c.6532C>T	NP_000050.2:p.His2178Tyr	NC_000013.10:g.32915024C>A,NC_000013.10:g.32915024C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6535_6536insA (p.Val2179Aspfs)	675	BRCA2	Pathogenic	80359601	RCV000044980; RCV000031632;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915027	32915028	NM_000059.3:c.6535_6536insA	NP_000050.2:p.Val2179Aspfs		Breast Cancer Information Core (BRCA2):6763&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6540G>C (p.Leu2180Phe)	675	BRCA2	Benign;Likely benign	398122560	RCV000160235; RCV000076969; RCV000131800;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915032	32915032	NM_000059.3:c.6540G>C	NP_000050.2:p.Leu2180Phe	NC_000013.10:g.32915032G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6547G>T (p.Glu2183Ter)	675	BRCA2	Pathogenic	397507866	RCV000044981; RCV000132475;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915039	32915039	NM_000059.3:c.6547G>T	NP_000050.2:p.Glu2183Ter	NC_000013.10:g.32915039G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6550C>G (p.Gln2184Glu)	675	BRCA2	Uncertain significance	80358887	RCV000044982; RCV000113608; RCV000129780;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915042	32915042	NM_000059.3:c.6550C>G	NP_000050.2:p.Gln2184Glu	NC_000013.10:g.32915042C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6553delG (p.Ala2185Leufs)	675	BRCA2	Pathogenic	80359603	RCV000044983; RCV000113609;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915045	32915045	NM_000059.3:c.6553delG	NP_000050.2:p.Ala2185Leufs	NC_000013.10:g.32915045delG	Breast Cancer Information Core (BRCA2):6781&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6557C>A (p.Ser2186Ter)	675	BRCA2	not provided	397507867	RCV000044984;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915049	32915049	NM_000059.3:c.6557C>A	NP_000050.2:p.Ser2186Ter	NC_000013.10:g.32915049C>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6566dupA (p.Asn2189Lysfs)	675	BRCA2	Pathogenic	397507373	RCV000160303; RCV000031635; RCV000214634; RCV000122925;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32915058	32915058	-	-	NC_000013.10:g.32915054dupA,NC_000013.10:g.32915058dupA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6568G>A (p.Val2190Ile)	675	BRCA2	Uncertain significance	80358888	RCV000044986; RCV000077378; RCV000132273;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915060	32915060	NM_000059.3:c.6568G>A	NP_000050.2:p.Val2190Ile	NC_000013.10:g.32915060G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6589delA (p.Thr2197Leufs)	675	BRCA2	not provided	397507868	RCV000044987;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915081	32915081	NM_000059.3:c.6589delA	NP_000050.2:p.Thr2197Leufs	NC_000013.10:g.32915081delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6600_6601delTT (p.Ser2201Terfs)	675	BRCA2	Pathogenic	80359607	RCV000044990; RCV000113611; RCV000162932;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915092	32915093	NM_000059.3:c.6600_6601delTT	NP_000050.2:p.Ser2201Terfs	NC_000013.10:g.32915092_32915093delTT	Breast Cancer Information Core (BRCA2):6828&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6601delT (p.Ser2201Leufs)	675	BRCA2	Pathogenic	397507869	RCV000044991; RCV000165788;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915093	32915093	NM_000059.3:c.6601delT	NP_000050.2:p.Ser2201Leufs	NC_000013.10:g.32915093delT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6603_6604delTG (p.Asp2202Cysfs)	675	BRCA2	Pathogenic	80359608	RCV000044992; RCV000113612;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915095	32915096	NM_000059.3:c.6603_6604delTG	NP_000050.2:p.Asp2202Cysfs	NC_000013.10:g.32915095_32915096delTG	Breast Cancer Information Core (BRCA2):6831&base_change=del TG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6626_6627delTA (p.Ile2209Argfs)	675	BRCA2	Pathogenic	80359610	RCV000044994; RCV000113614;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915118	32915119	NM_000059.3:c.6626_6627delTA	NP_000050.2:p.Ile2209Argfs	NC_000013.10:g.32915118_32915119delTA	Breast Cancer Information Core (BRCA2):6854&base_change=del TA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6627_6634delAGAAGTTT (p.Ile2209Metfs)	675	BRCA2	not provided	397507870	RCV000044995;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915119	32915126	NM_000059.3:c.6627_6634delAGAAGTTT	NP_000050.2:p.Ile2209Metfs	NC_000013.10:g.32915119_32915126delAGAAGTTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6629_6630delAA (p.Glu2210Glyfs)	675	BRCA2	Pathogenic	80359611	RCV000044996; RCV000113615;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915121	32915122	NM_000059.3:c.6629_6630delAA	NP_000050.2:p.Glu2210Glyfs	NC_000013.10:g.32915121_32915122delAA	Breast Cancer Information Core (BRCA2):6857&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6634_6637delTGTT (p.Cys2212Leufs)	675	BRCA2	Pathogenic	397507871	RCV000044999; RCV000132328;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915126	32915129	NM_000059.3:c.6634_6637delTGTT	NP_000050.2:p.Cys2212Leufs	NC_000013.10:g.32915126_32915129delTGTT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6635_6636delGT (p.Cys2212Phefs)	675	BRCA2	not provided	397507872	RCV000045000;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915127	32915128	NM_000059.3:c.6635_6636delGT	NP_000050.2:p.Cys2212Phefs	NC_000013.10:g.32915127_32915128delGT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6637T>C (p.Ser2213Pro)	675	BRCA2	Uncertain significance	80358890	RCV000045001; RCV000113617;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915129	32915129	NM_000059.3:c.6637T>C	NP_000050.2:p.Ser2213Pro	NC_000013.10:g.32915129T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6638delC (p.Ser2213Leufs)	675	BRCA2	Pathogenic	80359612	RCV000045002; RCV000113618;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915130	32915130	NM_000059.3:c.6638delC	NP_000050.2:p.Ser2213Leufs	NC_000013.10:g.32915130delC	Breast Cancer Information Core (BRCA2):6866&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6641dupC (p.Tyr2215Leufs)	675	BRCA2	Pathogenic	80359613	RCV000045004; RCV000031641; RCV000130476;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915133	32915133	NM_000059.3:c.6641dupC	NP_000050.2:p.Tyr2215Leufs	NC_000013.10:g.32915133dupC	Breast Cancer Information Core (BRCA2):6869&base_change=ins C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6643delT (p.Tyr2215Thrfs)	675	BRCA2	Likely pathogenic;Pathogenic	80359614	RCV000045005; RCV000077380;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915135	32915135	NM_000059.3:c.6643delT	NP_000050.2:p.Tyr2215Thrfs	NC_000013.10:g.32915135delT	Breast Cancer Information Core (BRCA2):6871&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6644_6647delACTC (p.Tyr2215Serfs)	675	BRCA2	Pathogenic	80359616	RCV000045006; RCV000031642; RCV000219562; RCV000131027;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32915136	32915139	NM_000059.3:c.6644_6647delACTC	NP_000050.2:p.Tyr2215Serfs	NC_000013.10:g.32915136_32915139delACTC	Breast Cancer Information Core (BRCA2):6872&base_change=del ACTC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.6644dupA (p.Tyr2215Terfs)	675	BRCA2	Pathogenic	80359615	RCV000045007; RCV000113619;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915136	32915136	NM_000059.3:c.6644dupA	NP_000050.2:p.Tyr2215Terfs	NC_000013.10:g.32915136dupA	Breast Cancer Information Core (BRCA2):6872&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6652dupG (p.Asp2218Glyfs)	675	BRCA2	not provided	397507874	RCV000045009;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915144	32915144	NM_000059.3:c.6652dupG	NP_000050.2:p.Asp2218Glyfs	NC_000013.10:g.32915144dupG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6656C>G (p.Ser2219Ter)	675	BRCA2	Pathogenic	80358893	RCV000045010; RCV000113622;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915148	32915148	NM_000059.3:c.6656C>G	NP_000050.2:p.Ser2219Ter	NC_000013.10:g.32915148C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6658_6661delGAAA (p.Glu2220Thrfs)	675	BRCA2	Pathogenic	80359617	RCV000045011; RCV000113623;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915150	32915153	NM_000059.3:c.6658_6661delGAAA	NP_000050.2:p.Glu2220Thrfs	NC_000013.10:g.32915150_32915153delGAAA	Breast Cancer Information Core (BRCA2):6886&base_change=del GAAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6673delA (p.Thr2225Glnfs)	675	BRCA2	Pathogenic	276174875	RCV000045013; RCV000113625;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915165	32915165	NM_000059.3:c.6673delA	NP_000050.2:p.Thr2225Glnfs	NC_000013.10:g.32915165delA	Breast Cancer Information Core (BRCA2):6901&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6676_6677delGA (p.Glu2226Serfs)	675	BRCA2	Pathogenic	80359619	RCV000045014; RCV000113626; RCV000218089;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32915168	32915169	NM_000059.3:c.6676_6677delGA	NP_000050.2:p.Glu2226Serfs	NC_000013.10:g.32915168_32915169delGA	Breast Cancer Information Core (BRCA2):6904&base_change=del GA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6678delA (p.Ala2227Glnfs)	675	BRCA2	Pathogenic	80359620	RCV000045015; RCV000113627;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915170	32915170	NM_000059.3:c.6678delA	NP_000050.2:p.Ala2227Glnfs	NC_000013.10:g.32915170delA	Breast Cancer Information Core (BRCA2):6906&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6682dupG (p.Val2228Glyfs)	675	BRCA2	Pathogenic	80359621	RCV000045016; RCV000113628; RCV000218189;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32915174	32915174	NM_000059.3:c.6682dupG	NP_000050.2:p.Val2228Glyfs	NC_000013.10:g.32915174dupG	Breast Cancer Information Core (BRCA2):6910&base_change=ins G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6683T>C (p.Val2228Ala)	675	BRCA2	Uncertain significance	80358894	RCV000045017; RCV000113629; RCV000166253;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915175	32915175	NM_000059.3:c.6683T>C	NP_000050.2:p.Val2228Ala	NC_000013.10:g.32915175T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6684delA (p.Glu2229Lysfs)	675	BRCA2	not provided	397507876	RCV000045018;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915176	32915176	NM_000059.3:c.6684delA	NP_000050.2:p.Glu2229Lysfs	NC_000013.10:g.32915176delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6688delA (p.Ile2230Leufs)	675	BRCA2	not provided	397507877	RCV000045019;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915180	32915180	NM_000059.3:c.6688delA	NP_000050.2:p.Ile2230Leufs	NC_000013.10:g.32915180delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6698C>A (p.Ala2233Asp)	675	BRCA2	Uncertain significance	41293501	RCV000045020; RCV000113630; RCV000212250; RCV000165875;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32915190	32915190	NM_000059.3:c.6698C>A	NP_000050.2:p.Ala2233Asp	NC_000013.10:g.32915190C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6713A>G (p.Asp2238Gly)	675	BRCA2	Uncertain significance	80358895	RCV000045027; RCV000113631; RCV000212251; RCV000130198;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32915205	32915205	NM_000059.3:c.6713A>G	NP_000050.2:p.Asp2238Gly	NC_000013.10:g.32915205A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6714T>G (p.Asp2238Glu)	675	BRCA2	Uncertain significance	28897742	RCV000045028; RCV000113632; RCV000218646; RCV000212252;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32915206	32915206	NM_000059.3:c.6714T>G	NP_000050.2:p.Asp2238Glu	NC_000013.10:g.32915206T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6715G>T (p.Glu2239Ter)	675	BRCA2	Pathogenic	276174876	RCV000045029; RCV000113633;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915207	32915207	NM_000059.3:c.6715G>T	NP_000050.2:p.Glu2239Ter	NC_000013.10:g.32915207G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6722C>T (p.Thr2241Ile)	675	BRCA2	Uncertain significance	276174877	RCV000045031; RCV000113634;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915214	32915214	NM_000059.3:c.6722C>T	NP_000050.2:p.Thr2241Ile	NC_000013.10:g.32915214C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6724_6725delGA (p.Asp2242Phefs)	675	BRCA2	Pathogenic	397507375	RCV000045032; RCV000031644;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915216	32915217	NM_000059.3:c.6724_6725delGA	NP_000050.2:p.Asp2242Phefs	NC_000013.10:g.32915216_32915217delGA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6732delA (p.Lys2244Asnfs)	675	BRCA2	not provided	397507879	RCV000045033;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915224	32915224	NM_000059.3:c.6732delA	NP_000050.2:p.Lys2244Asnfs	NC_000013.10:g.32915224delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly)	675	BRCA2	Likely benign;Uncertain significance	80358896	RCV000045034; RCV000031645; RCV000163090;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915231	32915231	NM_000059.3:c.6739A>G	NP_000050.2:p.Ser2247Gly	NC_000013.10:g.32915231A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6741T>A (p.Ser2247Arg)	675	BRCA2	Uncertain significance	80358898	RCV000045037; RCV000113635;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915233	32915233	NM_000059.3:c.6741T>A	NP_000050.2:p.Ser2247Arg	NC_000013.10:g.32915233T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6743_6755delATGCCACACATTC (p.His2248Leufs)	675	BRCA2	Pathogenic	80359622	RCV000045038; RCV000113636;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915235	32915247	NM_000059.3:c.6743_6755delATGCCACACATTC	NP_000050.2:p.His2248Leufs	NC_000013.10:g.32915235_32915247delATGCCACACATTC	Breast Cancer Information Core (BRCA2):6971&base_change=del 13	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6754dupT (p.Ser2252Phefs)	675	BRCA2	Pathogenic	180670511	RCV000045040; RCV000113637;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915246	32915246	NM_000059.3:c.6754dupT	NP_000050.2:p.Ser2252Phefs	NC_000013.10:g.32915246dupT	Breast Cancer Information Core (BRCA2):6982&base_change=dup T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6757_6758delCT (p.Leu2253Phefs)	675	BRCA2	Pathogenic	80359623	RCV000045041; RCV000113638; RCV000162933;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915249	32915250	NM_000059.3:c.6757_6758delCT	NP_000050.2:p.Leu2253Phefs	NC_000013.10:g.32915249_32915250delCT	Breast Cancer Information Core (BRCA2):6985&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6761_6762delTT (p.Phe2254Tyrfs)	675	BRCA2	Pathogenic	80359624	RCV000045042; RCV000113639; RCV000222656;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32915253	32915254	NM_000059.3:c.6761_6762delTT	NP_000050.2:p.Phe2254Tyrfs	NC_000013.10:g.32915253_32915254delTT	Breast Cancer Information Core (BRCA2):6989&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.6767G>A (p.Cys2256Tyr)	675	BRCA2	Uncertain significance	80358900	RCV000045043; RCV000113640;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915259	32915259	NM_000059.3:c.6767G>A	NP_000050.2:p.Cys2256Tyr	NC_000013.10:g.32915259G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6768T>A (p.Cys2256Ter)	675	BRCA2	Pathogenic	80358901	RCV000045044; RCV000113641;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915260	32915260	NM_000059.3:c.6768T>A	NP_000050.2:p.Cys2256Ter	NC_000013.10:g.32915260T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6770C>G (p.Pro2257Arg)	675	BRCA2	Uncertain significance	80358903	RCV000045046; RCV000113642;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915262	32915262	NM_000059.3:c.6770C>G	NP_000050.2:p.Pro2257Arg	NC_000013.10:g.32915262C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6785T>G (p.Met2262Arg)	675	BRCA2	Likely benign;Uncertain significance	80358904	RCV000045047; RCV000077383; RCV000162802;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915277	32915277	NM_000059.3:c.6785T>G	NP_000050.2:p.Met2262Arg	NC_000013.10:g.32915277T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6800C>A (p.Ser2267Ter)	675	BRCA2	not provided	377698594	RCV000045054;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915292	32915292	NM_000059.3:c.6800C>A	NP_000050.2:p.Ser2267Ter	NC_000013.10:g.32915292C>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6809delG (p.Gly2270Glufs)	675	BRCA2	Pathogenic	80359625	RCV000045056; RCV000113648;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915301	32915301	NM_000059.3:c.6809delG	NP_000050.2:p.Gly2270Glufs	NC_000013.10:g.32915301delG	Breast Cancer Information Core (BRCA2):7037&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6814delA (p.Arg2272Glufs)	675	BRCA2	not provided	397507885	RCV000045060;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915306	32915306	NM_000059.3:c.6814delA	NP_000050.2:p.Arg2272Glufs	NC_000013.10:g.32915306delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6816_6817delAA (p.Gly2274Argfs)	675	BRCA2	not provided	397507886	RCV000045061;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915308	32915309	NM_000059.3:c.6816_6817delAA	NP_000050.2:p.Gly2274Argfs	NC_000013.10:g.32915308_32915309delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6823_6825delGAG (p.Glu2275del)	675	BRCA2	Uncertain significance	276174880	RCV000045065; RCV000113652;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915315	32915317	NM_000059.3:c.6823_6825delGAG	NP_000050.2:p.Glu2275del	NC_000013.10:g.32915315_32915317delGAG	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6826C>A (p.Pro2276Thr)	675	BRCA2	Uncertain significance	80358907	RCV000045066; RCV000113653;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915318	32915318	NM_000059.3:c.6826C>A	NP_000050.2:p.Pro2276Thr	NC_000013.10:g.32915318C>A,NC_000013.10:g.32915318C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6826C>T (p.Pro2276Ser)	675	BRCA2	Uncertain significance	80358907	RCV000045067; RCV000113654; RCV000213626;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32915318	32915318	NM_000059.3:c.6826C>T	NP_000050.2:p.Pro2276Ser	NC_000013.10:g.32915318C>A,NC_000013.10:g.32915318C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6833_6837delTCTTA (p.Ile2278Serfs)	675	BRCA2	Pathogenic	80359626	RCV000045068; RCV000113656; RCV000162934;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915325	32915329	NM_000059.3:c.6833_6837delTCTTA	NP_000050.2:p.Ile2278Serfs	NC_000013.10:g.32915325_32915329delTCTTA	Breast Cancer Information Core (BRCA2):7057&base_change=del CTTAT,Breast Cancer Information Core (BRCA2):7061&base_change=del TCTTA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.6841+1delG	675	BRCA2	not provided	397507887	RCV000045069;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32915334	32915334	NM_000059.3:c.6841+1delG		NC_000013.10:g.32915334delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6841+3A>T	675	BRCA2	Uncertain significance	81002825	RCV000045070; RCV000113657;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915336	32915336	NM_000059.3:c.6841+3A>T		NC_000013.10:g.32915336A>T	Breast Cancer Information Core (BRCA2):7069+3&base_change=A to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6841+7_6841+8delGT	675	BRCA2	Uncertain significance	276174882	RCV000045071; RCV000113660;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915340	32915341	NM_000059.3:c.6841+7_6841+8delGT		NC_000013.10:g.32915340_32915341delGT	Breast Cancer Information Core (BRCA2):7069+7&base_change=del GT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6841+80_6841+83delTTAA	675	BRCA2	Benign	11571661	RCV000114980; RCV000113661;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32915413	32915416	NM_000059.3:c.6841+80_6841+83delTTAA		NC_000013.10:g.32915413_32915416delTTAA	Breast Cancer Information Core (BRCA2):7069+79&base_change=del 4,Breast Cancer Information Core (BRCA2):7069+80&base_change=del TTAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6842-112T>G	675	BRCA2	Uncertain significance	276174883	RCV000045072; RCV000113662;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32918583	32918583	NM_000059.3:c.6842-112T>G		NC_000013.10:g.32918583T>G	Breast Cancer Information Core (BRCA2):7070-112&base_change=T to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6842-20T>A	675	BRCA2	Benign	81002811	RCV000045077; RCV000031651; RCV000212253;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32918675	32918675	NM_000059.3:c.6842-20T>A		NC_000013.10:g.32918675T>A,NC_000013.10:g.32918675T>C	Breast Cancer Information Core (BRCA2):7070-20&base_change=T to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.6842-19_6842-18delAT	675	BRCA2	Uncertain significance	276174884	RCV000045076; RCV000113666;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32918676	32918677	NM_000059.3:c.6842-19_6842-18delAT		NC_000013.10:g.32918676_32918677delAT	Breast Cancer Information Core (BRCA2):7070-19&base_change=del AT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6842-11T>A	675	BRCA2	Uncertain significance	81002877	RCV000045073; RCV000113663;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32918684	32918684	NM_000059.3:c.6842-11T>A		NC_000013.10:g.32918684T>A	Breast Cancer Information Core (BRCA2):7070-11&base_change=T to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6842G>T (p.Gly2281Val)	675	BRCA2	Uncertain significance	80358908	RCV000045078; RCV000113668; RCV000220896;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32918695	32918695	NM_000059.3:c.6842G>T	NP_000050.2:p.Gly2281Val	NC_000013.10:g.32918695G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.6847C>G (p.Pro2283Ala)	675	BRCA2	Uncertain significance	80358909	RCV000045079; RCV000077388;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32918700	32918700	NM_000059.3:c.6847C>G	NP_000050.2:p.Pro2283Ala	NC_000013.10:g.32918700C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6848C>A (p.Pro2283His)	675	BRCA2	Uncertain significance	80358910	RCV000045080; RCV000113669; RCV000168592; RCV000130966;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32918701	32918701	NM_000059.3:c.6848C>A	NP_000050.2:p.Pro2283His	NC_000013.10:g.32918701C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val)	675	BRCA2	Benign	56272235	RCV000157746; RCV000031652; RCV000045081; RCV000034457; RCV000168593; RCV000162602;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32918706	32918706	NM_000059.3:c.6853A>G	NP_000050.2:p.Ile2285Val	NC_000013.10:g.32918706A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.6871A>G (p.Asn2291Asp)	675	BRCA2	Uncertain significance	80358911	RCV000045082; RCV000113670;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32918724	32918724	NM_000059.3:c.6871A>G	NP_000050.2:p.Asn2291Asp	NC_000013.10:g.32918724A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6901G>A (p.Glu2301Lys)	675	BRCA2	Uncertain significance	80358915	RCV000045086; RCV000113671;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32918754	32918754	NM_000059.3:c.6901G>A	NP_000050.2:p.Glu2301Lys	NC_000013.10:g.32918754G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6929C>A (p.Thr2310Asn)	675	BRCA2	Uncertain significance	276174886	RCV000045087; RCV000113672;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32918782	32918782	NM_000059.3:c.6929C>A	NP_000050.2:p.Thr2310Asn	NC_000013.10:g.32918782C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6931C>A (p.Pro2311Thr)	675	BRCA2	Uncertain significance	730881551	RCV000160123;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32918784	32918784	NM_000059.3:c.6931C>A	NP_000050.2:p.Pro2311Thr	NC_000013.10:g.32918784C>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6936T>A (p.Asp2312Glu)	675	BRCA2	Uncertain significance	80358917	RCV000045089; RCV000113674;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32918789	32918789	NM_000059.3:c.6936T>A	NP_000050.2:p.Asp2312Glu	NC_000013.10:g.32918789T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6938-2A>G	675	BRCA2	Likely pathogenic;Pathogenic	81002863	RCV000045090; RCV000083132;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32920962	32920962	NM_000059.3:c.6938-2A>G		NC_000013.10:g.32920962A>G	Breast Cancer Information Core (BRCA2):7166-2&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6941delC (p.Thr2314Lysfs)	675	BRCA2	Pathogenic	80359628	RCV000045091; RCV000031656;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32920967	32920967	NM_000059.3:c.6941delC	NP_000050.2:p.Thr2314Lysfs	NC_000013.10:g.32920967delC	Breast Cancer Information Core (BRCA2):7169&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6943A>C (p.Ile2315Leu)	675	BRCA2	Likely benign;Uncertain significance	80358918	RCV000045092; RCV000113675; RCV000212254; RCV000130766;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32920969	32920969	NM_000059.3:c.6943A>C	NP_000050.2:p.Ile2315Leu	NC_000013.10:g.32920969A>C,NC_000013.10:g.32920969A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6943A>G (p.Ile2315Val)	675	BRCA2	Uncertain significance	80358918	RCV000045093; RCV000113676;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32920969	32920969	NM_000059.3:c.6943A>G	NP_000050.2:p.Ile2315Val	NC_000013.10:g.32920969A>C,NC_000013.10:g.32920969A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6944_6947delTAAA (p.Ile2315Lysfs)	675	BRCA2	Likely pathogenic;Pathogenic	80359629	RCV000045094; RCV000031657; RCV000212255; RCV000131028;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32920970	32920973	NM_000059.3:c.6944_6947delTAAA	NP_000050.2:p.Ile2315Lysfs	NC_000013.10:g.32920970_32920973delTAAA	Breast Cancer Information Core (BRCA2):7172&base_change=del TAAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter)	675	BRCA2	Pathogenic	80358920	RCV000045095; RCV000031658; RCV000212256;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32920978	32920978	NM_000059.3:c.6952C>T	NP_000050.2:p.Arg2318Ter	NC_000013.10:g.32920978C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.6953G>A (p.Arg2318Gln)	675	BRCA2	Likely benign;Uncertain significance	80358921	RCV000045096; RCV000077390; RCV000203633; RCV000168594; RCV000131677;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32920979	32920979	NM_000059.3:c.6953G>A	NP_000050.2:p.Arg2318Gln	NC_000013.10:g.32920979G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6956G>C (p.Arg2319Thr)	675	BRCA2	Uncertain significance	80358922	RCV000045097; RCV000113678; RCV000220047; RCV000132286;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32920982	32920982	NM_000059.3:c.6956G>C	NP_000050.2:p.Arg2319Thr	NC_000013.10:g.32920982G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.6959T>C (p.Leu2320Ser)	675	BRCA2	Uncertain significance	80358923	RCV000045098; RCV000113679;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32920985	32920985	NM_000059.3:c.6959T>C	NP_000050.2:p.Leu2320Ser	NC_000013.10:g.32920985T>A,NC_000013.10:g.32920985T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6959delT (p.Leu2320Cysfs)	675	BRCA2	not provided	397507888	RCV000045099;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32920985	32920985	NM_000059.3:c.6959delT	NP_000050.2:p.Leu2320Cysfs	NC_000013.10:g.32920985delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6966G>T (p.Met2322Ile)	675	BRCA2	Uncertain significance	80358924	RCV000045100; RCV000077391;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32920992	32920992	NM_000059.3:c.6966G>T	NP_000050.2:p.Met2322Ile	NC_000013.10:g.32920992G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6990_6994delTACCT (p.Ile2330Metfs)	675	BRCA2	Pathogenic	80359631	RCV000045103; RCV000113681;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32921016	32921020	NM_000059.3:c.6990_6994delTACCT	NP_000050.2:p.Ile2330Metfs	NC_000013.10:g.32921016_32921020delTACCT	Breast Cancer Information Core (BRCA2):7218&base_change=del TACCT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6991A>G (p.Thr2331Ala)	675	BRCA2	Uncertain significance	80358926	RCV000045104; RCV000113682;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32921017	32921017	NM_000059.3:c.6991A>G	NP_000050.2:p.Thr2331Ala	NC_000013.10:g.32921017A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.6996delT (p.Cys2332Trpfs)	675	BRCA2	not provided	397507889	RCV000045105;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32921022	32921022	NM_000059.3:c.6996delT	NP_000050.2:p.Cys2332Trpfs	NC_000013.10:g.32921022delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7003_7007delTTTCG (p.Phe2335Hisfs)	675	BRCA2	Pathogenic	80359632	RCV000045106; RCV000113683;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32921029	32921033	NM_000059.3:c.7003_7007delTTTCG	NP_000050.2:p.Phe2335Hisfs	NC_000013.10:g.32921029_32921033delTTTCG	Breast Cancer Information Core (BRCA2):7231&base_change=del TTTCG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7004_7007+2delTTCGGT	675	BRCA2	not provided	397507890	RCV000045107;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32921030	32921035	NM_000059.3:c.7004_7007+2delTTCGGT		NC_000013.10:g.32921030_32921035delTTCGGT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7006C>T (p.Arg2336Cys)	675	BRCA2	Uncertain significance	431825347	RCV000160124; RCV000082966; RCV000132214;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32921032	32921032	NM_000059.3:c.7006C>T	NP_000050.2:p.Arg2336Cys	NC_000013.10:g.32921032C>G,NC_000013.10:g.32921032C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7007G>C (p.Arg2336Pro)	675	BRCA2	Pathogenic	28897743	RCV000045113; RCV000077394; RCV000214499;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32921033	32921033	NM_000059.3:c.7007G>C	NP_000050.2:p.Arg2336Pro	NC_000013.10:g.32921033G>A,NC_000013.10:g.32921033G>C,NC_000013.10:g.32921033G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7007G>T (p.Arg2336Leu)	675	BRCA2	Likely pathogenic;Pathogenic	28897743	RCV000045114; RCV000113685; RCV000219635;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32921033	32921033	NM_000059.3:c.7007G>T	NP_000050.2:p.Arg2336Leu	NC_000013.10:g.32921033G>A,NC_000013.10:g.32921033G>C,NC_000013.10:g.32921033G>T	Breast Cancer Information Core (BRCA2):7235&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7007+1G>C	675	BRCA2	not provided	397507891	RCV000045108;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32921034	32921034	NM_000059.3:c.7007+1G>C		NC_000013.10:g.32921034G>C,NC_000013.10:g.32921034G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7007+1G>T	675	BRCA2	not provided	397507891	RCV000045109;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32921034	32921034	NM_000059.3:c.7007+1G>T		NC_000013.10:g.32921034G>C,NC_000013.10:g.32921034G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7007+5G>C	675	BRCA2	Uncertain significance	81002816	RCV000045111; RCV000113684;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32921038	32921038	NM_000059.3:c.7007+5G>C		NC_000013.10:g.32921038G>A,NC_000013.10:g.32921038G>C	Breast Cancer Information Core (BRCA2):7235+5&base_change=G to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7008-20A>G	675	BRCA2	Uncertain significance	81002903	RCV000045116; RCV000113686;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32928978	32928978	NM_000059.3:c.7008-20A>G		NC_000013.10:g.32928978A>G	Breast Cancer Information Core (BRCA2):7236-20&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7008-13C>T	675	BRCA2	Likely benign;Uncertain significance	81002792	RCV000045115; RCV000077395;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32928985	32928985	NM_000059.3:c.7008-13C>T		NC_000013.10:g.32928985C>T	Breast Cancer Information Core (BRCA2):7236-13&base_change=C to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7008-2A>G	675	BRCA2	Pathogenic	81002823	RCV000045117; RCV000113688;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32928996	32928996	NM_000059.3:c.7008-2A>G		NC_000013.10:g.32928996A>G,NC_000013.10:g.32928996A>T	Breast Cancer Information Core (BRCA2):7236-2&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7008-2A>T	675	BRCA2	Pathogenic	81002823	RCV000045118; RCV000113689; RCV000220759;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32928996	32928996	NM_000059.3:c.7008-2A>T		NC_000013.10:g.32928996A>G,NC_000013.10:g.32928996A>T	Breast Cancer Information Core (BRCA2):7236-2&base_change=A to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn)	675	BRCA2	Benign	45574331	RCV000045121; RCV000113692; RCV000167851; RCV000120355; RCV000128918;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32929007	32929007	NM_000059.3:c.7017G>C	NP_000050.2:p.Lys2339Asn	NC_000013.10:g.32929007G>C	HGMD:CM118447	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7021C>T (p.Arg2341Cys)	675	BRCA2	Uncertain significance	41293505	RCV000160126; RCV000076986; RCV000130453;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929011	32929011	NM_000059.3:c.7021C>T	NP_000050.2:p.Arg2341Cys	NC_000013.10:g.32929011C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter)	675	BRCA2	Pathogenic	80358928	RCV000045122; RCV000077396; RCV000215667;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32929014	32929014	NM_000059.3:c.7024C>T	NP_000050.2:p.Gln2342Ter	NC_000013.10:g.32929014C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7025_7026delAA (p.Gln2342Argfs)	675	BRCA2	Pathogenic	80359634	RCV000045123; RCV000077397;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929015	32929016	NM_000059.3:c.7025_7026delAA	NP_000050.2:p.Gln2342Argfs	NC_000013.10:g.32929015_32929016delAA	Breast Cancer Information Core (BRCA2):7253&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7032dupA (p.Gln2345Thrfs)	675	BRCA2	Pathogenic	80359635	RCV000045125; RCV000113694;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929022	32929022	NM_000059.3:c.7032dupA	NP_000050.2:p.Gln2345Thrfs	NC_000013.10:g.32929022dupA	Breast Cancer Information Core (BRCA2):7260&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7047delT (p.Phe2349Leufs)	675	BRCA2	not provided	397507893	RCV000045127;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929037	32929037	NM_000059.3:c.7047delT	NP_000050.2:p.Phe2349Leufs	NC_000013.10:g.32929037delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr)	675	BRCA2	Uncertain significance	80358930	RCV000045128; RCV000113696; RCV000212257; RCV000130893;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32929041	32929041	NM_000059.3:c.7051G>A	NP_000050.2:p.Ala2351Thr	NC_000013.10:g.32929041G>A,NC_000013.10:g.32929041G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7056T>A (p.Pro2352=)	675	BRCA2	Uncertain significance	276174888	RCV000045132; RCV000113700;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929046	32929046	NM_000059.3:c.7056T>A	NP_000050.2:p.Pro2352=	NC_000013.10:g.32929046T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7060C>T (p.Gln2354Ter)	675	BRCA2	Pathogenic	80358936	RCV000045134; RCV000113702;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929050	32929050	NM_000059.3:c.7060C>T	NP_000050.2:p.Gln2354Ter	NC_000013.10:g.32929050C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7067_7068delTT (p.Phe2356Serfs)	675	BRCA2	not provided	397507894	RCV000045135;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929057	32929058	NM_000059.3:c.7067_7068delTT	NP_000050.2:p.Phe2356Serfs	NC_000013.10:g.32929057_32929058delTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7082_7100dup19 (p.Leu2368Phefs)	675	BRCA2	not provided	397507895	RCV000045138;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929072	32929090	NM_000059.3:c.7082_7100dup19	NP_000050.2:p.Leu2368Phefs	NC_000013.10:g.32929072_32929090dup19	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7088A>G (p.Tyr2363Cys)	675	BRCA2	Uncertain significance	80358939	RCV000045139; RCV000113706; RCV000164874;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929078	32929078	NM_000059.3:c.7088A>G	NP_000050.2:p.Tyr2363Cys	NC_000013.10:g.32929078A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7090G>A (p.Glu2364Lys)	675	BRCA2	Uncertain significance	80358940	RCV000045140; RCV000113707;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929080	32929080	NM_000059.3:c.7090G>A	NP_000050.2:p.Glu2364Lys	NC_000013.10:g.32929080G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7092delA (p.Glu2364Aspfs)	675	BRCA2	not provided	397507896	RCV000045141;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929082	32929082	NM_000059.3:c.7092delA	NP_000050.2:p.Glu2364Aspfs	NC_000013.10:g.32929082delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7096C>G (p.Leu2366Val)	675	BRCA2	Likely benign;Uncertain significance	80358941	RCV000045142; RCV000031665; RCV000164923;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929086	32929086	NM_000059.3:c.7096C>G	NP_000050.2:p.Leu2366Val	NC_000013.10:g.32929086C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7107A>C (p.Glu2369Asp)	675	BRCA2	Uncertain significance	80358942	RCV000045143; RCV000113708;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929097	32929097	NM_000059.3:c.7107A>C	NP_000050.2:p.Glu2369Asp	NC_000013.10:g.32929097A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7108_7109delAA (p.Lys2370Ilefs)	675	BRCA2	Pathogenic	80359638	RCV000045144; RCV000113709;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929098	32929099	NM_000059.3:c.7108_7109delAA	NP_000050.2:p.Lys2370Ilefs	NC_000013.10:g.32929098_32929099delAA	Breast Cancer Information Core (BRCA2):7336&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7110delA (p.Lys2370Asnfs)	675	BRCA2	Pathogenic	397507897	RCV000045145; RCV000113710;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929100	32929100	NM_000059.3:c.7110delA	NP_000050.2:p.Lys2370Asnfs	NC_000013.10:g.32929100delA	Breast Cancer Information Core (BRCA2):7338&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7115C>G (p.Ser2372Ter)	675	BRCA2	Pathogenic	80358943	RCV000045146; RCV000113711;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929105	32929105	NM_000059.3:c.7115C>G	NP_000050.2:p.Ser2372Ter	NC_000013.10:g.32929105C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7118G>C (p.Ser2373Thr)	675	BRCA2	Uncertain significance	80358944	RCV000045147; RCV000113712;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929108	32929108	NM_000059.3:c.7118G>C	NP_000050.2:p.Ser2373Thr	NC_000013.10:g.32929108G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7133C>G (p.Ser2378Ter)	675	BRCA2	Pathogenic	276174889	RCV000045148; RCV000031667; RCV000216056;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32929123	32929123	NM_000059.3:c.7133C>G	NP_000050.2:p.Ser2378Ter	NC_000013.10:g.32929123C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7151_7152delAA (p.Gln2384Argfs)	675	BRCA2	Pathogenic	276174890	RCV000045150; RCV000113713; RCV000162935;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929141	32929142	NM_000059.3:c.7151_7152delAA	NP_000050.2:p.Gln2384Argfs	NC_000013.10:g.32929141_32929142delAA	Breast Cancer Information Core (BRCA2):7379&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7152A>G (p.Gln2384=)	675	BRCA2	Uncertain significance	80359796	RCV000045151; RCV000113714;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929142	32929142	NM_000059.3:c.7152A>G	NP_000050.2:p.Gln2384=	NC_000013.10:g.32929142A>G	Breast Cancer Information Core (BRCA2):7380&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7156dupT (p.Ser2386Phefs)	675	BRCA2	Pathogenic	80359639	RCV000045152; RCV000113715;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929146	32929146	NM_000059.3:c.7156dupT	NP_000050.2:p.Ser2386Phefs	NC_000013.10:g.32929146dupT	Breast Cancer Information Core (BRCA2):7384&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7166delG (p.Arg2389Lysfs)	675	BRCA2	not provided	397507898	RCV000045153;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929156	32929156	NM_000059.3:c.7166delG	NP_000050.2:p.Arg2389Lysfs	NC_000013.10:g.32929156delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7177dupA (p.Met2393Asnfs)	675	BRCA2	not provided	397507899	RCV000045155;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929167	32929167	NM_000059.3:c.7177dupA	NP_000050.2:p.Met2393Asnfs	NC_000013.10:g.32929167dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7180A>T (p.Arg2394Ter)	675	BRCA2	Pathogenic	80358946	RCV000045156; RCV000077398; RCV000131033;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929170	32929170	NM_000059.3:c.7180A>T	NP_000050.2:p.Arg2394Ter	NC_000013.10:g.32929170A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7182A>G (p.Arg2394=)	675	BRCA2	Uncertain significance	80359797	RCV000045157; RCV000113717;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929172	32929172	NM_000059.3:c.7182A>G	NP_000050.2:p.Arg2394=	NC_000013.10:g.32929172A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7183delC (p.His2395Thrfs)	675	BRCA2	not provided	397507900	RCV000045158;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929173	32929173	NM_000059.3:c.7183delC	NP_000050.2:p.His2395Thrfs	NC_000013.10:g.32929173delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7187dupT (p.Leu2396Phefs)	675	BRCA2	not provided	397507901	RCV000045159;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929177	32929177	NM_000059.3:c.7187dupT	NP_000050.2:p.Leu2396Phefs	NC_000013.10:g.32929177dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7193C>G (p.Thr2398Ser)	675	BRCA2	Uncertain significance	80358947	RCV000045160; RCV000113718; RCV000166255;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929183	32929183	NM_000059.3:c.7193C>G	NP_000050.2:p.Thr2398Ser	NC_000013.10:g.32929183C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7195A>G (p.Thr2399Ala)	675	BRCA2	Uncertain significance	80358948	RCV000045161; RCV000113719;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929185	32929185	NM_000059.3:c.7195A>G	NP_000050.2:p.Thr2399Ala	NC_000013.10:g.32929185A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7208_7211delCCAA (p.Thr2403Lysfs)	675	BRCA2	Pathogenic	80359641	RCV000045164; RCV000077399; RCV000215912;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32929198	32929201	NM_000059.3:c.7208_7211delCCAA	NP_000050.2:p.Thr2403Lysfs	NC_000013.10:g.32929198_32929201delCCAA	Breast Cancer Information Core (BRCA2):7436&base_change=del CCAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7210_7216delAAAGTCTinsTG (p.Lys2404Cysfs)	675	BRCA2	not provided	397507904	RCV000045165;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929200	32929206	NM_000059.3:c.7210_7216delAAAGTCTinsTG	NP_000050.2:p.Lys2404Cysfs	NC_000013.10:g.32929200_32929206delAAAGTCTinsTG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7211_7212delAA (p.Lys2404Serfs)	675	BRCA2	Pathogenic	80359642	RCV000045166; RCV000113720;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929201	32929202	NM_000059.3:c.7211_7212delAA	NP_000050.2:p.Lys2404Serfs	NC_000013.10:g.32929201_32929202delAA	Breast Cancer Information Core (BRCA2):7439&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7218T>G (p.Phe2406Leu)	675	BRCA2	Uncertain significance	80358949	RCV000045167; RCV000113725;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929208	32929208	NM_000059.3:c.7218T>G	NP_000050.2:p.Phe2406Leu	NC_000013.10:g.32929208T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7224A>G (p.Pro2408=)	675	BRCA2	Benign	276174891	RCV000045168; RCV000113732;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929214	32929214	NM_000059.3:c.7224A>G	NP_000050.2:p.Pro2408=	NC_000013.10:g.32929214A>G	Breast Cancer Information Core (BRCA2):7452&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7224_7227delACCT (p.Pro2409Leufs)	675	BRCA2	not provided	397507905	RCV000045169;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929214	32929217	NM_000059.3:c.7224_7227delACCT	NP_000050.2:p.Pro2409Leufs	NC_000013.10:g.32929214_32929217delACCT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7226delC (p.Pro2409Leufs)	675	BRCA2	Pathogenic	80359643	RCV000045170; RCV000113733;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929216	32929216	NM_000059.3:c.7226delC	NP_000050.2:p.Pro2409Leufs	NC_000013.10:g.32929216delC	Breast Cancer Information Core (BRCA2):7454&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7234_7235insG (p.Thr2412Serfs)	675	BRCA2	not provided	397507906	RCV000045172;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929224	32929225	NM_000059.3:c.7234_7235insG	NP_000050.2:p.Thr2412Serfs	NC_000013.10:g.32929224_32929225insG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7241C>G (p.Ser2414Ter)	675	BRCA2	Pathogenic	80358951	RCV000045173; RCV000113736; RCV000217367;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32929231	32929231	NM_000059.3:c.7241C>G	NP_000050.2:p.Ser2414Ter	NC_000013.10:g.32929231C>G,NC_000013.10:g.32929231C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7241C>T (p.Ser2414Leu)	675	BRCA2	Uncertain significance	80358951	RCV000045174; RCV000113737;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929231	32929231	NM_000059.3:c.7241C>T	NP_000050.2:p.Ser2414Leu	NC_000013.10:g.32929231C>G,NC_000013.10:g.32929231C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7242A>G (p.Ser2414=)	675	BRCA2	Benign	1799955	RCV000123992; RCV000113739; RCV000152882; RCV000130994;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32929232	32929232	NM_000059.3:c.7242A>G	NP_000050.2:p.Ser2414=	NC_000013.10:g.32929232A>G	Breast Cancer Information Core (BRCA2):7470&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7252A>G (p.Arg2418Gly)	675	BRCA2	Likely benign;Uncertain significance	80358953	RCV000045176; RCV000113740; RCV000163032;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929242	32929242	NM_000059.3:c.7252A>G	NP_000050.2:p.Arg2418Gly	NC_000013.10:g.32929242A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7254_7255delAG (p.Arg2418Serfs)	675	BRCA2	Pathogenic	80359644	RCV000045177; RCV000113741; RCV000220840;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32929244	32929245	NM_000059.3:c.7254_7255delAG	NP_000050.2:p.Arg2418Serfs	NC_000013.10:g.32929244_32929245delAG	Breast Cancer Information Core (BRCA2):7482&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.7258G>T (p.Glu2420Ter)	675	BRCA2	Pathogenic	397507385	RCV000045178; RCV000031671; RCV000221529;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32929248	32929248	NM_000059.3:c.7258G>T	NP_000050.2:p.Glu2420Ter	NC_000013.10:g.32929248G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7261C>T (p.Gln2421Ter)	675	BRCA2	not provided	397507908	RCV000045179;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929251	32929251	NM_000059.3:c.7261C>T	NP_000050.2:p.Gln2421Ter	NC_000013.10:g.32929251C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7301A>C (p.Lys2434Thr)	675	BRCA2	Uncertain significance	80358954	RCV000045182; RCV000113743; RCV000212258;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32929291	32929291	NM_000059.3:c.7301A>C	NP_000050.2:p.Lys2434Thr	NC_000013.10:g.32929291A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.7303C>T (p.Gln2435Ter)	675	BRCA2	not provided	397507910	RCV000045183;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929293	32929293	NM_000059.3:c.7303C>T	NP_000050.2:p.Gln2435Ter	NC_000013.10:g.32929293C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7313A>G (p.Asp2438Gly)	675	BRCA2	Uncertain significance	80358957	RCV000045186; RCV000113745; RCV000165902;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929303	32929303	NM_000059.3:c.7313A>G	NP_000050.2:p.Asp2438Gly	NC_000013.10:g.32929303A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg)	675	BRCA2	Benign	4986860	RCV000045187; RCV000113748; RCV000167852; RCV000034458; RCV000120351; RCV000162498;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32929309	32929309	NM_000059.3:c.7319A>G	NP_000050.2:p.His2440Arg	NC_000013.10:g.32929309A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.7322delG (p.Gly2441Alafs)	675	BRCA2	not provided	397507911	RCV000045189;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929312	32929312	NM_000059.3:c.7322delG	NP_000050.2:p.Gly2441Alafs	NC_000013.10:g.32929312delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7360delA (p.Ile2454Phefs)	675	BRCA2	Pathogenic	80359646	RCV000045191; RCV000113747;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929350	32929350	NM_000059.3:c.7360delA	NP_000050.2:p.Ile2454Phefs	NC_000013.10:g.32929350delA	Breast Cancer Information Core (BRCA2):7588&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7366C>G (p.Gln2456Glu)	675	BRCA2	not provided	397507912	RCV000045192;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929356	32929356	NM_000059.3:c.7366C>G	NP_000050.2:p.Gln2456Glu	NC_000013.10:g.32929356C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7375A>T (p.Lys2459Ter)	675	BRCA2	not provided	397507913	RCV000045193;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929365	32929365	NM_000059.3:c.7375A>T	NP_000050.2:p.Lys2459Ter	NC_000013.10:g.32929365A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7379_7382delACAA (p.Asn2460Thrfs)	675	BRCA2	Pathogenic	80359648	RCV000045194; RCV000031673;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929369	32929372	NM_000059.3:c.7379_7382delACAA	NP_000050.2:p.Asn2460Thrfs	NC_000013.10:g.32929369_32929372delACAA	Breast Cancer Information Core (BRCA2):7607&base_change=del ACAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7379delA (p.Asn2460Thrfs)	675	BRCA2	not provided	397507914	RCV000045195;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929369	32929369	NM_000059.3:c.7379delA	NP_000050.2:p.Asn2460Thrfs	NC_000013.10:g.32929369delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7380_7381insG (p.Asn2461Glufs)	675	BRCA2	Pathogenic	730881612	RCV000160304;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929370	32929371	NM_000059.3:c.7380_7381insG	NP_000050.2:p.Asn2461Glufs	NC_000013.10:g.32929370_32929371insG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7394C>T (p.Ala2465Val)	675	BRCA2	Uncertain significance	80358960	RCV000045196; RCV000113750;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929384	32929384	NM_000059.3:c.7394C>T	NP_000050.2:p.Ala2465Val	NC_000013.10:g.32929384C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val)	675	BRCA2	Benign	169547	RCV000045197; RCV000113751; RCV000203672; RCV000168597;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32929387	32929387	NM_000059.3:c.7397C>T	NP_000050.2:p.Ala2466Val	NC_000013.10:g.32929387Tx3d,NC_000013.10:g.32929387T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7408_7409delTT (p.Phe2470Hisfs)	675	BRCA2	not provided	397507915	RCV000045199;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929398	32929399	NM_000059.3:c.7408_7409delTT	NP_000050.2:p.Phe2470Hisfs	NC_000013.10:g.32929398_32929399delTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7409dupT (p.Thr2471Hisfs)	675	BRCA2	not provided	397507916	RCV000045200;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32929399	32929399	NM_000059.3:c.7409dupT	NP_000050.2:p.Thr2471Hisfs	NC_000013.10:g.32929399dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs)	675	BRCA2	Pathogenic	80359649	RCV000045202; RCV000031675;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929402	32929411	NM_000059.3:c.7412_7421delCAAAGTGTGA	NP_000050.2:p.Thr2471Lysfs	NC_000013.10:g.32929402_32929411delCAAAGTGTGA	Breast Cancer Information Core (BRCA2):7640&base_change=del CAAAGTGTGA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7414_7415delAA (p.Lys2472Valfs)	675	BRCA2	Pathogenic	80359650	RCV000045203; RCV000031676; RCV000131030;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929404	32929405	NM_000059.3:c.7414_7415delAA	NP_000050.2:p.Lys2472Valfs	NC_000013.10:g.32929404_32929405delAA	Breast Cancer Information Core (BRCA2):7642&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7415A>C (p.Lys2472Thr)	675	BRCA2	Benign	80358963	RCV000045204; RCV000113752; RCV000163012;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929405	32929405	NM_000059.3:c.7415A>C	NP_000050.2:p.Lys2472Thr	NC_000013.10:g.32929405A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7418G>A (p.Cys2473Tyr)	675	BRCA2	Likely benign;Uncertain significance	55924966	RCV000045205; RCV000113753; RCV000132080;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929408	32929408	NM_000059.3:c.7418G>A	NP_000050.2:p.Cys2473Tyr	NC_000013.10:g.32929408G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7419_7420delTG (p.Cys2473Terfs)	675	BRCA2	Pathogenic	80359651	RCV000045206; RCV000031677;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929409	32929410	NM_000059.3:c.7419_7420delTG	NP_000050.2:p.Cys2473Terfs	NC_000013.10:g.32929409_32929410delTG	Breast Cancer Information Core (BRCA2):7647&base_change=del TG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7429C>T (p.Pro2477Ser)	675	BRCA2	Uncertain significance	80358964	RCV000045208; RCV000113754;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32929419	32929419	NM_000059.3:c.7429C>T	NP_000050.2:p.Pro2477Ser	NC_000013.10:g.32929419C>A,NC_000013.10:g.32929419C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7436-17T>G	675	BRCA2	Uncertain significance	81002829	RCV000045213; RCV000113758;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930548	32930548	NM_000059.3:c.7436-17T>G		NC_000013.10:g.32930548T>G	Breast Cancer Information Core (BRCA2):7664-17&base_change=T to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7436-2A>T	675	BRCA2	not provided	397507917	RCV000045214;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930563	32930563	NM_000059.3:c.7436-2A>T		NC_000013.10:g.32930563A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7436A>G (p.Asp2479Gly)	675	BRCA2	Uncertain significance	730881555	RCV000160131;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930565	32930565	NM_000059.3:c.7436A>G	NP_000050.2:p.Asp2479Gly	NC_000013.10:g.32930565A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7438T>G (p.Leu2480Val)	675	BRCA2	Uncertain significance	80358965	RCV000045216; RCV000113759; RCV000167294;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930567	32930567	NM_000059.3:c.7438T>G	NP_000050.2:p.Leu2480Val	NC_000013.10:g.32930567T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7443delT (p.Thr2482Glnfs)	675	BRCA2	Pathogenic	80359652	RCV000045218; RCV000113761;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930572	32930572	NM_000059.3:c.7443delT	NP_000050.2:p.Thr2482Glnfs	NC_000013.10:g.32930572delT	Breast Cancer Information Core (BRCA2):7671&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7447A>G (p.Ser2483Gly)	675	BRCA2	Uncertain significance	80358966	RCV000045219; RCV000113762; RCV000215268; RCV000164907;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930576	32930576	NM_000059.3:c.7447A>G	NP_000050.2:p.Ser2483Gly	NC_000013.10:g.32930576A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358967	RCV000045220; RCV000083134; RCV000195378; RCV000129898;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32930577	32930577	NM_000059.3:c.7448G>A	NP_000050.2:p.Ser2483Asn	NC_000013.10:g.32930577G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7463G>A (p.Arg2488Lys)	675	BRCA2	Likely benign;Uncertain significance	80358968	RCV000045221; RCV000077401; RCV000168600;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930592	32930592	NM_000059.3:c.7463G>A	NP_000050.2:p.Arg2488Lys	NC_000013.10:g.32930592G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.7464A>C (p.Arg2488Ser)	675	BRCA2	Uncertain significance	80358969	RCV000045222; RCV000113764; RCV000164219;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930593	32930593	NM_000059.3:c.7464A>C	NP_000050.2:p.Arg2488Ser	NC_000013.10:g.32930593A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7466A>G (p.Asp2489Gly)	675	BRCA2	Uncertain significance	80358970	RCV000045223; RCV000031680; RCV000212259; RCV000131769;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930595	32930595	NM_000059.3:c.7466A>G	NP_000050.2:p.Asp2489Gly	NC_000013.10:g.32930595A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7467dupT (p.Ile2490Tyrfs)	675	BRCA2	not provided	397507918	RCV000045224;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930596	32930596	NM_000059.3:c.7467dupT	NP_000050.2:p.Ile2490Tyrfs	NC_000013.10:g.32930596dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr)	675	BRCA2	Benign;Likely benign;Uncertain significance	11571707	RCV000123996; RCV000082973; RCV000119156; RCV000120360; RCV000132404;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930598	32930598	NM_000059.3:c.7469T>C	NP_000050.2:p.Ile2490Thr	NC_000013.10:g.32930598T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7471C>T (p.Gln2491Ter)	675	BRCA2	not provided	80358971	RCV000045225; RCV000113766;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930600	32930600	NM_000059.3:c.7471C>T	NP_000050.2:p.Gln2491Ter	NC_000013.10:g.32930600C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7474_7475delGA (p.Asp2492Tyrfs)	675	BRCA2	Pathogenic	80359653	RCV000045226; RCV000113767;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930603	32930604	NM_000059.3:c.7474_7475delGA	NP_000050.2:p.Asp2492Tyrfs	NC_000013.10:g.32930603_32930604delGA	Breast Cancer Information Core (BRCA2):7702&base_change=del GA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7480C>T (p.Arg2494Ter)	675	BRCA2	Pathogenic	80358972	RCV000045227; RCV000031681; RCV000131084;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930609	32930609	NM_000059.3:c.7480C>T	NP_000050.2:p.Arg2494Ter	NC_000013.10:g.32930609C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7481G>A (p.Arg2494Gln)	675	BRCA2	Likely benign;Uncertain significance	80358973	RCV000045228; RCV000083135; RCV000164832;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930610	32930610	NM_000059.3:c.7481G>A	NP_000050.2:p.Arg2494Gln	NC_000013.10:g.32930610G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7484T>C (p.Ile2495Thr)	675	BRCA2	Likely benign;Uncertain significance	80358974	RCV000045229; RCV000077402; RCV000168601; RCV000162811;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930613	32930613	NM_000059.3:c.7484T>C	NP_000050.2:p.Ile2495Thr	NC_000013.10:g.32930613T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7491_7493delGAA (p.Lys2498del)	675	BRCA2	Uncertain significance	80359655	RCV000045231; RCV000113769;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930620	32930622	NM_000059.3:c.7491_7493delGAA	NP_000050.2:p.Lys2498del	NC_000013.10:g.32930620_32930622delGAA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7505G>A (p.Arg2502His)	675	BRCA2	Benign;Likely benign;Uncertain significance	56070345	RCV000045234; RCV000083136; RCV000195335; RCV000131692;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32930634	32930634	NM_000059.3:c.7505G>A	NP_000050.2:p.Arg2502His	NC_000013.10:g.32930634G>A,NC_000013.10:g.32930634G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7512T>G (p.Phe2504Leu)	675	BRCA2	Uncertain significance	80358977	RCV000045235; RCV000113771;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930641	32930641	NM_000059.3:c.7512T>G	NP_000050.2:p.Phe2504Leu	NC_000013.10:g.32930641T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser)	675	BRCA2	Likely benign;Uncertain significance	80358978	RCV000045236; RCV000077404; RCV000203651; RCV000120359; RCV000164682;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930651	32930651	NM_000059.3:c.7522G>A	NP_000050.2:p.Gly2508Ser	NC_000013.10:g.32930651G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7525_7526insT (p.Ser2509Metfs)	675	BRCA2	not provided	80359656	RCV000045237;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930654	32930655	NM_000059.3:c.7525_7526insT	NP_000050.2:p.Ser2509Metfs	NC_000013.10:g.32930654_32930655insT,NC_000013.10:g.32930654dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7529T>C (p.Leu2510Pro)	675	BRCA2	Pathogenic;Uncertain significance	80358979	RCV000045238; RCV000113772; RCV000009936;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1838457,OMIM:605724,ORPHA:319462; MedGen:C2675520,OMIM:612555	13	32930658	32930658	NM_000059.3:c.7529T>C	NP_000050.2:p.Leu2510Pro	NC_000013.10:g.32930658T>C	OMIM Allelic Variant:600185.0030	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C1838457 605724 Fanconi anemia, complementation group D1
NM_000059.3(BRCA2):c.7534C>T (p.Leu2512Phe)	675	BRCA2	Likely benign;Uncertain significance	80358980	RCV000045239; RCV000113773; RCV000212260; RCV000130690;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930663	32930663	NM_000059.3:c.7534C>T	NP_000050.2:p.Leu2512Phe	NC_000013.10:g.32930663C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7538delC (p.Ala2513Glufs)	675	BRCA2	not provided	397507919	RCV000045240;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930667	32930667	NM_000059.3:c.7538delC	NP_000050.2:p.Ala2513Glufs	NC_000013.10:g.32930667delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7543delA (p.Thr2515Hisfs)	675	BRCA2	Pathogenic	80359658	RCV000045241; RCV000113774;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930672	32930672	NM_000059.3:c.7543delA	NP_000050.2:p.Thr2515Hisfs	NC_000013.10:g.32930672delA	Breast Cancer Information Core (BRCA2):7771&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7544delC (p.Thr2515Asnfs)	675	BRCA2	not provided	397507920	RCV000045243;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930673	32930673	NM_000059.3:c.7544delC	NP_000050.2:p.Thr2515Asnfs	NC_000013.10:g.32930673delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7561A>G (p.Ile2521Val)	675	BRCA2	Uncertain significance	80358983	RCV000045247; RCV000113776; RCV000219637;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32930690	32930690	NM_000059.3:c.7561A>G	NP_000050.2:p.Ile2521Val	NC_000013.10:g.32930690A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7562T>C (p.Ile2521Thr)	675	BRCA2	Uncertain significance	80358984	RCV000045248; RCV000083137;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930691	32930691	NM_000059.3:c.7562T>C	NP_000050.2:p.Ile2521Thr	NC_000013.10:g.32930691T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7565C>T (p.Ser2522Phe)	675	BRCA2	Likely benign;Uncertain significance	80358985	RCV000045249; RCV000031686; RCV000212261; RCV000162600;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930694	32930694	NM_000059.3:c.7565C>T	NP_000050.2:p.Ser2522Phe	NC_000013.10:g.32930694C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7567_7568delCT (p.Leu2523Glufs)	675	BRCA2	Pathogenic	80359664	RCV000045250; RCV000031687;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930696	32930697	NM_000059.3:c.7567_7568delCT	NP_000050.2:p.Leu2523Glufs	NC_000013.10:g.32930696_32930697delCT	Breast Cancer Information Core (BRCA2):7795&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7583G>A (p.Gly2528Glu)	675	BRCA2	Uncertain significance	80358986	RCV000045253; RCV000113777;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930712	32930712	NM_000059.3:c.7583G>A	NP_000050.2:p.Gly2528Glu	NC_000013.10:g.32930712G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7588delC (p.Gln2530Lysfs)	675	BRCA2	Pathogenic	730881613	RCV000160305;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930717	32930717	NM_000059.3:c.7588delC	NP_000050.2:p.Gln2530Lysfs	NC_000013.10:g.32930717delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7593delT (p.Ser2533Leufs)	675	BRCA2	Pathogenic	80359665	RCV000045254; RCV000113778;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930722	32930722	NM_000059.3:c.7593delT	NP_000050.2:p.Ser2533Leufs	NC_000013.10:g.32930722delT	Breast Cancer Information Core (BRCA2):7821&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7598C>G (p.Ser2533Cys)	675	BRCA2	Uncertain significance	80358987	RCV000045255; RCV000031690; RCV000214587; RCV000130650;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32930727	32930727	NM_000059.3:c.7598C>G	NP_000050.2:p.Ser2533Cys	NC_000013.10:g.32930727C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val)	675	BRCA2	Likely benign;Uncertain significance	74047012	RCV000045256; RCV000031691; RCV000220233; RCV000195379;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32930730	32930730	NM_000059.3:c.7601C>T	NP_000050.2:p.Ala2534Val	NC_000013.10:g.32930730C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7610A>G (p.His2537Arg)	675	BRCA2	Uncertain significance	80358988	RCV000045257; RCV000113792;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32930739	32930739	NM_000059.3:c.7610A>G	NP_000050.2:p.His2537Arg	NC_000013.10:g.32930739A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7612A>T (p.Lys2538Ter)	675	BRCA2	not provided	397507921	RCV000045258;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930741	32930741	NM_000059.3:c.7612A>T	NP_000050.2:p.Lys2538Ter	NC_000013.10:g.32930741A>G,NC_000013.10:g.32930741A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7617+1G>T	675	BRCA2	not provided	397507922	RCV000045260;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32930747	32930747	NM_000059.3:c.7617+1G>T		NC_000013.10:g.32930747G>A,NC_000013.10:g.32930747G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7618-114_7618-112delAGT	675	BRCA2	Uncertain significance	276174894	RCV000045263; RCV000113794;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931765	32931767	NM_000059.3:c.7618-114_7618-112delAGT		NC_000013.10:g.32931765_32931767delAGT	Breast Cancer Information Core (BRCA2):7846-114&base_change=del AGT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7618-59G>T	675	BRCA2	Uncertain significance	276174895	RCV000045268; RCV000113795;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931820	32931820	NM_000059.3:c.7618-59G>T		NC_000013.10:g.32931820G>T	Breast Cancer Information Core (BRCA2):7846-59&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7618-27T>A	675	BRCA2	not provided	397507925	RCV000045267;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931852	32931852	NM_000059.3:c.7618-27T>A		NC_000013.10:g.32931852T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7618-16T>G	675	BRCA2	not provided	397507924	RCV000045264;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931863	32931863	NM_000059.3:c.7618-16T>G		NC_000013.10:g.32931863T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7618-1G>C	675	BRCA2	not provided	397507389	RCV000045266;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931878	32931878	NM_000059.3:c.7618-1G>C		NC_000013.10:g.32931878G>A,NC_000013.10:g.32931878G>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7618C>A (p.Leu2540Met)	675	BRCA2	Uncertain significance	397507390	RCV000160135; RCV000031693; RCV000166080;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931879	32931879	NM_000059.3:c.7618C>A	NP_000050.2:p.Leu2540Met	NC_000013.10:g.32931879C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7625C>G (p.Thr2542Arg)	675	BRCA2	Uncertain significance	80358989	RCV000045269; RCV000113796;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931886	32931886	NM_000059.3:c.7625C>G	NP_000050.2:p.Thr2542Arg	NC_000013.10:g.32931886C>G,NC_000013.10:g.32931886C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7631G>A (p.Gly2544Asp)	675	BRCA2	Uncertain significance	397507926	RCV000045271; RCV000214936;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32931892	32931892	NM_000059.3:c.7631G>A	NP_000050.2:p.Gly2544Asp	NC_000013.10:g.32931892G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7633G>A (p.Val2545Ile)	675	BRCA2	Uncertain significance	80358990	RCV000045272; RCV000113799; RCV000212262; RCV000130821;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32931894	32931894	NM_000059.3:c.7633G>A	NP_000050.2:p.Val2545Ile	NC_000013.10:g.32931894G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7636_7645delTCTAAACATT (p.Ser2546Alafs)	675	BRCA2	not provided	397507927	RCV000045273;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931897	32931906	NM_000059.3:c.7636_7645delTCTAAACATT	NP_000050.2:p.Ser2546Alafs	NC_000013.10:g.32931897_32931906delTCTAAACATT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7639A>G (p.Lys2547Glu)	675	BRCA2	Uncertain significance	80358991	RCV000045274; RCV000113800; RCV000216129;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32931900	32931900	NM_000059.3:c.7639A>G	NP_000050.2:p.Lys2547Glu	NC_000013.10:g.32931900A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7643A>G (p.His2548Arg)	675	BRCA2	Uncertain significance	80358992	RCV000045275; RCV000031694; RCV000129573;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931904	32931904	NM_000059.3:c.7643A>G	NP_000050.2:p.His2548Arg	NC_000013.10:g.32931904A>G,NC_000013.10:g.32931904A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7647C>A (p.Cys2549Ter)	675	BRCA2	Pathogenic	80358993	RCV000045276; RCV000113801;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931908	32931908	NM_000059.3:c.7647C>A	NP_000050.2:p.Cys2549Ter	NC_000013.10:g.32931908C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7655_7658delTTAA (p.Ile2552Thrfs)	675	BRCA2	Pathogenic	80359669	RCV000045277; RCV000113803;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931916	32931919	NM_000059.3:c.7655_7658delTTAA	NP_000050.2:p.Ile2552Thrfs	NC_000013.10:g.32931916_32931919delTTAA	Breast Cancer Information Core (BRCA2):7883&base_change=del TTAA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7661G>A (p.Ser2554Asn)	675	BRCA2	Uncertain significance	398122588	RCV000160136; RCV000077006; RCV000215704;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32931922	32931922	NM_000059.3:c.7661G>A	NP_000050.2:p.Ser2554Asn	NC_000013.10:g.32931922G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7671delA (p.Glu2558Serfs)	675	BRCA2	not provided	397507928	RCV000045278;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931932	32931932	NM_000059.3:c.7671delA	NP_000050.2:p.Glu2558Serfs	NC_000013.10:g.32931932delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7673_7674delAG (p.Glu2558Valfs)	675	BRCA2	Pathogenic	80359672	RCV000045279; RCV000113805; RCV000131089;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931934	32931935	NM_000059.3:c.7673_7674delAG	NP_000050.2:p.Glu2558Valfs	NC_000013.10:g.32931934_32931935delAG	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7675_7676insAAAC (p.Ser2559Terfs)	675	BRCA2	not provided	397507929	RCV000045280;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931936	32931937	NM_000059.3:c.7675_7676insAAAC	NP_000050.2:p.Ser2559Terfs	NC_000013.10:g.32931936_32931937insAAAC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7679_7680delTT (p.Phe2560Serfs)	675	BRCA2	Pathogenic	80359673	RCV000045281; RCV000077406;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931940	32931941	NM_000059.3:c.7679_7680delTT	NP_000050.2:p.Phe2560Serfs	NC_000013.10:g.32931940_32931941delTT	Breast Cancer Information Core (BRCA2):7907&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7680delT (p.Gln2561Serfs)	675	BRCA2	not provided	397507931	RCV000045284;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931941	32931941	NM_000059.3:c.7680delT	NP_000050.2:p.Gln2561Serfs	NC_000013.10:g.32931941delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7680dupT (p.Gln2561Serfs)	675	BRCA2	Pathogenic	397507932	RCV000045285; RCV000082977;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931941	32931941	NM_000059.3:c.7680dupT	NP_000050.2:p.Gln2561Serfs	NC_000013.10:g.32931941dupT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7681C>T (p.Gln2561Ter)	675	BRCA2	Pathogenic	80358994	RCV000045286; RCV000083140;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931942	32931942	NM_000059.3:c.7681C>T	NP_000050.2:p.Gln2561Ter	NC_000013.10:g.32931942C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7681_7682insT (p.Gln2561Leufs)	675	BRCA2	not provided	397507933	RCV000045287;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931942	32931943	NM_000059.3:c.7681_7682insT	NP_000050.2:p.Gln2561Leufs	NC_000013.10:g.32931942_32931943insT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7684T>C (p.Phe2562Leu)	675	BRCA2	Likely benign;Uncertain significance	80358995	RCV000045288; RCV000031696; RCV000220943; RCV000221024;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32931945	32931945	NM_000059.3:c.7684T>C	NP_000050.2:p.Phe2562Leu	NC_000013.10:g.32931945T>C,NC_000013.10:g.32931945T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7689delC (p.His2563Glnfs)	675	BRCA2	Pathogenic	80359674	RCV000045289; RCV000077407; RCV000165023;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931950	32931950	NM_000059.3:c.7689delC	NP_000050.2:p.His2563Glnfs	NC_000013.10:g.32931950delC	Breast Cancer Information Core (BRCA2):7917&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7696G>T (p.Asp2566Tyr)	675	BRCA2	Uncertain significance	80358996	RCV000045290; RCV000113806;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931957	32931957	NM_000059.3:c.7696G>T	NP_000050.2:p.Asp2566Tyr	NC_000013.10:g.32931957G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7697dupA (p.Asp2566Glufs)	675	BRCA2	not provided	397507934	RCV000045291;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931958	32931958	NM_000059.3:c.7697dupA	NP_000050.2:p.Asp2566Glufs	NC_000013.10:g.32931958dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7707delT (p.Lys2570Argfs)	675	BRCA2	not provided	397507935	RCV000045292;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32931968	32931968	NM_000059.3:c.7707delT	NP_000050.2:p.Lys2570Argfs	NC_000013.10:g.32931968delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7712A>G (p.Glu2571Gly)	675	BRCA2	Uncertain significance	55689095	RCV000045293; RCV000113807; RCV000195380; RCV000130819;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32931973	32931973	NM_000059.3:c.7712A>G	NP_000050.2:p.Glu2571Gly	NC_000013.10:g.32931973A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7721G>A (p.Trp2574Ter)	675	BRCA2	Pathogenic	80358997	RCV000045295; RCV000077408;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931982	32931982	NM_000059.3:c.7721G>A	NP_000050.2:p.Trp2574Ter	NC_000013.10:g.32931982G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7738C>T (p.Gln2580Ter)	675	BRCA2	Pathogenic	80358999	RCV000045297; RCV000113809;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32931999	32931999	NM_000059.3:c.7738C>T	NP_000050.2:p.Gln2580Ter	NC_000013.10:g.32931999C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7742T>G (p.Leu2581Trp)	675	BRCA2	Uncertain significance	80359000	RCV000045298; RCV000113810;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932003	32932003	NM_000059.3:c.7742T>G	NP_000050.2:p.Leu2581Trp	NC_000013.10:g.32932003T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7751G>A (p.Gly2584Asp)	675	BRCA2	Uncertain significance	80359001	RCV000045299; RCV000113811; RCV000131991;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932012	32932012	NM_000059.3:c.7751G>A	NP_000050.2:p.Gly2584Asp	NC_000013.10:g.32932012G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7751delG (p.Gly2584Valfs)	675	BRCA2	not provided	397507936	RCV000045300;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32932012	32932012	NM_000059.3:c.7751delG	NP_000050.2:p.Gly2584Valfs	NC_000013.10:g.32932012delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7753G>A (p.Gly2585Arg)	675	BRCA2	Uncertain significance	80359002	RCV000045301; RCV000113812; RCV000212263;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32932014	32932014	NM_000059.3:c.7753G>A	NP_000050.2:p.Gly2585Arg	NC_000013.10:g.32932014G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.7758G>A (p.Trp2586Ter)	675	BRCA2	Pathogenic	80359004	RCV000045303; RCV000031698;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932019	32932019	NM_000059.3:c.7758G>A	NP_000050.2:p.Trp2586Ter	NC_000013.10:g.32932019G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7761delC (p.Ile2588Tyrfs)	675	BRCA2	Pathogenic	80359678	RCV000045306; RCV000113813;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932022	32932022	NM_000059.3:c.7761delC	NP_000050.2:p.Ile2588Tyrfs	NC_000013.10:g.32932022delC	Breast Cancer Information Core (BRCA2):7989&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7772A>G (p.Asn2591Ser)	675	BRCA2	Uncertain significance	80359006	RCV000045309; RCV000113816;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932033	32932033	NM_000059.3:c.7772A>G	NP_000050.2:p.Asn2591Ser	NC_000013.10:g.32932033A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7783G>T (p.Ala2595Ser)	675	BRCA2	Uncertain significance	80359007	RCV000045310; RCV000113817;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932044	32932044	NM_000059.3:c.7783G>T	NP_000050.2:p.Ala2595Ser	NC_000013.10:g.32932044G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7795_7797delGAA (p.Glu2599del)	675	BRCA2	Uncertain significance	80359682	RCV000045312; RCV000113819; RCV000130941;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932056	32932058	NM_000059.3:c.7795_7797delGAA	NP_000050.2:p.Glu2599del	NC_000013.10:g.32932056_32932058delGAA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7805G>C (p.Arg2602Thr)	675	BRCA2	not provided	397507938	RCV000045318;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32932066	32932066	NM_000059.3:c.7805G>C	NP_000050.2:p.Arg2602Thr	NC_000013.10:g.32932066G>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7805+1G>A	675	BRCA2	Pathogenic	81002809	RCV000045313; RCV000077411;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932067	32932067	NM_000059.3:c.7805+1G>A		NC_000013.10:g.32932067G>A	Breast Cancer Information Core (BRCA2):8033+1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7805+3A>C	675	BRCA2	Uncertain significance	81002810	RCV000045314; RCV000113820;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932069	32932069	NM_000059.3:c.7805+3A>C		NC_000013.10:g.32932069A>C	Breast Cancer Information Core (BRCA2):8033+3&base_change=A to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7805+6C>G	675	BRCA2	Benign;Likely benign;Uncertain significance	81002819	RCV000124001; RCV000077412; RCV000045315; RCV000174984;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32932072	32932072	NM_000059.3:c.7805+6C>G		NC_000013.10:g.32932072C>G	Breast Cancer Information Core (BRCA2):8033+6&base_change=C to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7805+7T>A	675	BRCA2	Uncertain significance	81002800	RCV000045316; RCV000113821;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32932073	32932073	NM_000059.3:c.7805+7T>A		NC_000013.10:g.32932073T>A	Breast Cancer Information Core (BRCA2):8033+7&base_change=T to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7806-14T>C	675	BRCA2	Benign	9534262	RCV000124004; RCV000113823; RCV000152883; RCV000132168;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32936646	32936646	NM_000059.3:c.7806-14T>C		NC_000013.10:g.32936646T>C	Breast Cancer Information Core (BRCA2):8034-14&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.7806-12T>C	675	BRCA2	Uncertain significance	81002875	RCV000045319; RCV000113822;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936648	32936648	NM_000059.3:c.7806-12T>C		NC_000013.10:g.32936648T>C	Breast Cancer Information Core (BRCA2):8034-12&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7806-9T>G	675	BRCA2	Uncertain significance	397507939	RCV000045323; RCV000113827;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936651	32936651	NM_000059.3:c.7806-9T>G		NC_000013.10:g.32936651T>G	Breast Cancer Information Core (BRCA2):8034-9&base_change=T to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7806-2A>G	675	BRCA2	Likely pathogenic;Pathogenic	81002836	RCV000045321; RCV000077414; RCV000131088;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936658	32936658	NM_000059.3:c.7806-2A>G		NC_000013.10:g.32936658A>G	Breast Cancer Information Core (BRCA2):8034-2&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7806-1G>T	675	BRCA2	Pathogenic	81002860	RCV000045320; RCV000113825;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936659	32936659	NM_000059.3:c.7806-1G>T		NC_000013.10:g.32936659G>T	Breast Cancer Information Core (BRCA2):8034-1&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7806_7807insAG (p.Ala2603Argfs)	675	BRCA2	Pathogenic	80359683	RCV000045324; RCV000113828;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936660	32936661	NM_000059.3:c.7806_7807insAG	NP_000050.2:p.Ala2603Argfs	NC_000013.10:g.32936660_32936661insAG	Breast Cancer Information Core (BRCA2):8034&base_change=ins AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7819A>C (p.Thr2607Pro)	675	BRCA2	Uncertain significance	80359008	RCV000045325; RCV000113829;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936673	32936673	NM_000059.3:c.7819A>C	NP_000050.2:p.Thr2607Pro	NC_000013.10:g.32936673A>C,NC_000013.10:g.32936673A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7826G>A (p.Gly2609Asp)	675	BRCA2	Uncertain significance	80359009	RCV000045326; RCV000113831;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936680	32936680	NM_000059.3:c.7826G>A	NP_000050.2:p.Gly2609Asp	NC_000013.10:g.32936680G>A,NC_000013.10:g.32936680G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7832A>G (p.Asp2611Gly)	675	BRCA2	Uncertain significance	80359010	RCV000045327; RCV000113832; RCV000165314;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936686	32936686	NM_000059.3:c.7832A>G	NP_000050.2:p.Asp2611Gly	NC_000013.10:g.32936686A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7846delT (p.Ser2616Leufs)	675	BRCA2	Pathogenic	397507940	RCV000045328; RCV000162059;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936700	32936700	NM_000059.3:c.7846delT	NP_000050.2:p.Ser2616Leufs	NC_000013.10:g.32936700delT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7847delC (p.Ser2616Leufs)	675	BRCA2	Pathogenic	80359685	RCV000045329; RCV000113833; RCV000213408;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32936701	32936701	NM_000059.3:c.7847delC	NP_000050.2:p.Ser2616Leufs	NC_000013.10:g.32936701delC	Breast Cancer Information Core (BRCA2):8075&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.7857G>A (p.Trp2619Ter)	675	BRCA2	Pathogenic	80359011	RCV000045331; RCV000031704; RCV000162936;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936711	32936711	NM_000059.3:c.7857G>A	NP_000050.2:p.Trp2619Ter	NC_000013.10:g.32936711G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7863T>A (p.Tyr2621Ter)	675	BRCA2	Pathogenic	276174896	RCV000045332; RCV000113834;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936717	32936717	NM_000059.3:c.7863T>A	NP_000050.2:p.Tyr2621Ter	NC_000013.10:g.32936717T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7865A>G (p.Asn2622Ser)	675	BRCA2	Likely pathogenic;Uncertain significance	142899125	RCV000160144; RCV000077013; RCV000197898; RCV000175118; RCV000130086;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32936719	32936719	NM_000059.3:c.7865A>G	NP_000050.2:p.Asn2622Ser	NC_000013.10:g.32936719A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.7872_7873delTA (p.Tyr2624Terfs)	675	BRCA2	not provided	397507942	RCV000045334;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32936726	32936727	NM_000059.3:c.7872_7873delTA	NP_000050.2:p.Tyr2624Terfs	NC_000013.10:g.32936726_32936727delTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7878G>C (p.Trp2626Cys)	675	BRCA2	Pathogenic	80359013	RCV000045336; RCV000031707; RCV000163025;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936732	32936732	NM_000059.3:c.7878G>C	NP_000050.2:p.Trp2626Cys	NC_000013.10:g.32936732G>A,NC_000013.10:g.32936732G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe)	675	BRCA2	Pathogenic	80359014	RCV000045337; RCV000077415; RCV000218666; RCV000131675;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32936733	32936733	NM_000059.3:c.7879A>T	NP_000050.2:p.Ile2627Phe	NC_000013.10:g.32936733A>G,NC_000013.10:g.32936733A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.7884dupA (p.Trp2629Metfs)	675	BRCA2	not provided	397507943	RCV000045338;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32936738	32936738	NM_000059.3:c.7884dupA	NP_000050.2:p.Trp2629Metfs	NC_000013.10:g.32936738dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7886G>A (p.Trp2629Ter)	675	BRCA2	Pathogenic	80359015	RCV000045339; RCV000113835;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936740	32936740	NM_000059.3:c.7886G>A	NP_000050.2:p.Trp2629Ter	NC_000013.10:g.32936740G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7908T>A (p.Cys2636Ter)	675	BRCA2	Pathogenic	80359016	RCV000045340; RCV000113836;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936762	32936762	NM_000059.3:c.7908T>A	NP_000050.2:p.Cys2636Ter	NC_000013.10:g.32936762T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7913_7917delTTCCT (p.Phe2638Terfs)	675	BRCA2	Pathogenic	80359686	RCV000045341; RCV000031708; RCV000212264; RCV000131090;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32936767	32936771	NM_000059.3:c.7913_7917delTTCCT	NP_000050.2:p.Phe2638Terfs	NC_000013.10:g.32936767_32936771delTTCCT	Breast Cancer Information Core (BRCA2):8138&base_change=del CCTTT,Breast Cancer Information Core (BRCA2):8141&base_change=del TTCCT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.7915C>G (p.Pro2639Ala)	675	BRCA2	Uncertain significance	80359017	RCV000045342; RCV000113838;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936769	32936769	NM_000059.3:c.7915C>G	NP_000050.2:p.Pro2639Ala	NC_000013.10:g.32936769C>A,NC_000013.10:g.32936769C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7926delT (p.Phe2642Leufs)	675	BRCA2	not provided	397507944	RCV000045343;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32936780	32936780	NM_000059.3:c.7926delT	NP_000050.2:p.Phe2642Leufs	NC_000013.10:g.32936780delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7928C>G (p.Ala2643Gly)	675	BRCA2	Likely benign;Uncertain significance	80359018	RCV000045344; RCV000077416; RCV000129050;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936782	32936782	NM_000059.3:c.7928C>G	NP_000050.2:p.Ala2643Gly	NC_000013.10:g.32936782C>G,NC_000013.10:g.32936782C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7931A>G (p.Asn2644Ser)	675	BRCA2	Uncertain significance	80359020	RCV000045347; RCV000077417; RCV000162644;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936785	32936785	NM_000059.3:c.7931A>G	NP_000050.2:p.Asn2644Ser	NC_000013.10:g.32936785A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7934delG (p.Arg2645Asnfs)	675	BRCA2	Pathogenic	80359688	RCV000045348; RCV000077418; RCV000132051;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936788	32936788	NM_000059.3:c.7934delG	NP_000050.2:p.Arg2645Asnfs	NC_000013.10:g.32936788delG	Breast Cancer Information Core (BRCA2):8162&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7940T>C (p.Leu2647Pro)	675	BRCA2	Likely pathogenic;Uncertain significance	80359021	RCV000045351; RCV000083142; RCV000162550;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936794	32936794	NM_000059.3:c.7940T>C	NP_000050.2:p.Leu2647Pro	NC_000013.10:g.32936794T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7941A>C (p.Leu2647=)	675	BRCA2	Benign	276174898	RCV000045352; RCV000113841;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936795	32936795	NM_000059.3:c.7941A>C	NP_000050.2:p.Leu2647=	NC_000013.10:g.32936795A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7947A>G (p.Pro2649=)	675	BRCA2	Uncertain significance	80359799	RCV000045353; RCV000113842;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936801	32936801	NM_000059.3:c.7947A>G	NP_000050.2:p.Pro2649=	NC_000013.10:g.32936801A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7954delG (p.Val2652Cysfs)	675	BRCA2	Pathogenic	80359689	RCV000045354; RCV000113843;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936808	32936808	NM_000059.3:c.7954delG	NP_000050.2:p.Val2652Cysfs	NC_000013.10:g.32936808delG	Breast Cancer Information Core (BRCA2):8182&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7958T>C (p.Leu2653Pro)	675	BRCA2	Pathogenic;Uncertain significance	80359022	RCV000045355; RCV000113844;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936812	32936812	NM_000059.3:c.7958T>C	NP_000050.2:p.Leu2653Pro	NC_000013.10:g.32936812T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7961T>C (p.Leu2654Pro)	675	BRCA2	Uncertain significance	80359023	RCV000045356; RCV000113845;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936815	32936815	NM_000059.3:c.7961T>C	NP_000050.2:p.Leu2654Pro	NC_000013.10:g.32936815T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7963C>T (p.Gln2655Ter)	675	BRCA2	Pathogenic	397507395	RCV000045357; RCV000031710;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936817	32936817	NM_000059.3:c.7963C>T	NP_000050.2:p.Gln2655Ter	NC_000013.10:g.32936817C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7963delC (p.Gln2655Asnfs)	675	BRCA2	not provided	397507945	RCV000045358;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32936817	32936817	NM_000059.3:c.7963delC	NP_000050.2:p.Gln2655Asnfs	NC_000013.10:g.32936817delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg)	675	BRCA2	Likely pathogenic;Uncertain significance	80359024	RCV000045359; RCV000113846; RCV000212265;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32936818	32936818	NM_000059.3:c.7964A>G	NP_000050.2:p.Gln2655Arg	NC_000013.10:g.32936818A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.7974C>G (p.Tyr2658Ter)	675	BRCA2	Pathogenic	80359025	RCV000045360; RCV000031711;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936828	32936828	NM_000059.3:c.7974C>G	NP_000050.2:p.Tyr2658Ter	NC_000013.10:g.32936828C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7975A>G (p.Arg2659Gly)	675	BRCA2	Uncertain significance	80359026	RCV000045361; RCV000031712;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936829	32936829	NM_000059.3:c.7975A>G	NP_000050.2:p.Arg2659Gly	NC_000013.10:g.32936829A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys)	675	BRCA2	Pathogenic;Uncertain significance	80359027	RCV000045366; RCV000031713; RCV000212266; RCV000131687;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32936830	32936830	NM_000059.3:c.7976G>A	NP_000050.2:p.Arg2659Lys	NC_000013.10:g.32936830G>A,NC_000013.10:g.32936830G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.7976G>C (p.Arg2659Thr)	675	BRCA2	Pathogenic	80359027	RCV000045367; RCV000113849;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936830	32936830	NM_000059.3:c.7976G>C	NP_000050.2:p.Arg2659Thr	NC_000013.10:g.32936830G>A,NC_000013.10:g.32936830G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7976+1G>A	675	BRCA2	Likely pathogenic;Pathogenic	81002873	RCV000045363; RCV000077419; RCV000131083;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936831	32936831	NM_000059.3:c.7976+1G>A		NC_000013.10:g.32936831G>A	Breast Cancer Information Core (BRCA2):8204+1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7976+3_7976+4delAA	675	BRCA2	not provided	397507946	RCV000045365;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32936833	32936834	NM_000059.3:c.7976+3_7976+4delAA		NC_000013.10:g.32936833_32936834delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7976+23C>T	675	BRCA2	Likely benign;Uncertain significance	183623188	RCV000045364; RCV000113848;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32936853	32936853	NM_000059.3:c.7976+23C>T		NC_000013.10:g.32936853C>T	Breast Cancer Information Core (BRCA2):8204+23&base_change=C to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7977-7C>G	675	BRCA2	not provided	397507948	RCV000045370;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937309	32937309	NM_000059.3:c.7977-7C>G		NC_000013.10:g.32937309C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7977-2delA	675	BRCA2	not provided	397507947	RCV000045369;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937314	32937314	NM_000059.3:c.7977-2delA		NC_000013.10:g.32937314delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7978T>G (p.Tyr2660Asp)	675	BRCA2	Likely pathogenic;Uncertain significance	80359029	RCV000045371; RCV000077420;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937317	32937317	NM_000059.3:c.7978T>G	NP_000050.2:p.Tyr2660Asp	NC_000013.10:g.32937317T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7979_7991delATGATACGGAAAT (p.Tyr2660Leufs)	675	BRCA2	Pathogenic	730881614	RCV000160306;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937318	32937330	NM_000059.3:c.7979_7991delATGATACGGAAAT	NP_000050.2:p.Tyr2660Leufs	NC_000013.10:g.32937318_32937330delATGATACGGAAAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7980T>G (p.Tyr2660Ter)	675	BRCA2	not provided	397507949	RCV000045372;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937319	32937319	NM_000059.3:c.7980T>G	NP_000050.2:p.Tyr2660Ter	NC_000013.10:g.32937319T>C,NC_000013.10:g.32937319T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7980_7984delTGATA (p.Asp2661Glyfs)	675	BRCA2	not provided	397507950	RCV000045373;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937319	32937323	NM_000059.3:c.7980_7984delTGATA	NP_000050.2:p.Asp2661Glyfs	NC_000013.10:g.32937319_32937323delTGATA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7987G>A (p.Glu2663Lys)	675	BRCA2	Uncertain significance	80359030	RCV000045374; RCV000077421; RCV000163114;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937326	32937326	NM_000059.3:c.7987G>A	NP_000050.2:p.Glu2663Lys	NC_000013.10:g.32937326G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val)	675	BRCA2	Pathogenic	80359031	RCV000045375; RCV000077422; RCV000163034;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937327	32937327	NM_000059.3:c.7988A>T	NP_000050.2:p.Glu2663Val	NC_000013.10:g.32937327A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=)	675	BRCA2	Likely benign;Uncertain significance	80359800	RCV000045376; RCV000195381; RCV000163206;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145	13	32937331	32937331	NM_000059.3:c.7992T>A	NP_000050.2:p.Ile2664=	NC_000013.10:g.32937331T>A,NC_000013.10:g.32937331T>C,NC_000013.10:g.32937331T>G	-	C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.7992T>C (p.Ile2664=)	675	BRCA2	Uncertain significance	80359800	RCV000045377; RCV000113852;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937331	32937331	NM_000059.3:c.7992T>C	NP_000050.2:p.Ile2664=	NC_000013.10:g.32937331T>A,NC_000013.10:g.32937331T>C,NC_000013.10:g.32937331T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7996A>T (p.Arg2666Ter)	675	BRCA2	Pathogenic	80359032	RCV000045379; RCV000113853;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937335	32937335	NM_000059.3:c.7996A>T	NP_000050.2:p.Arg2666Ter	NC_000013.10:g.32937335A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.7997G>C (p.Arg2666Thr)	675	BRCA2	Uncertain significance	80359033	RCV000045380; RCV000113854;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937336	32937336	NM_000059.3:c.7997G>C	NP_000050.2:p.Arg2666Thr	NC_000013.10:g.32937336G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8002A>T (p.Arg2668Ter)	675	BRCA2	Pathogenic	276174900	RCV000045382; RCV000113855;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937341	32937341	NM_000059.3:c.8002A>T	NP_000050.2:p.Arg2668Ter	NC_000013.10:g.32937341A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8002_8008dupAGAAGAT (p.Ser2670Terfs)	675	BRCA2	not provided	397507951	RCV000045383;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937341	32937347	NM_000059.3:c.8002_8008dupAGAAGAT	NP_000050.2:p.Ser2670Terfs	NC_000013.10:g.32937341_32937347dupAGAAGAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8009C>A (p.Ser2670Ter)	675	BRCA2	not provided	80359035	RCV000045384;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937348	32937348	NM_000059.3:c.8009C>A	NP_000050.2:p.Ser2670Ter	NC_000013.10:g.32937348C>A,NC_000013.10:g.32937348C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu)	675	BRCA2	Likely pathogenic;Uncertain significance	80359035	RCV000045385; RCV000077423; RCV000212267; RCV000131082;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32937348	32937348	NM_000059.3:c.8009C>T	NP_000050.2:p.Ser2670Leu	NC_000013.10:g.32937348C>A,NC_000013.10:g.32937348C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.8014A>G (p.Ile2672Val)	675	BRCA2	Likely benign;Uncertain significance	80359037	RCV000045387; RCV000031717; RCV000129989;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937353	32937353	NM_000059.3:c.8014A>G	NP_000050.2:p.Ile2672Val	NC_000013.10:g.32937353A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8016A>G (p.Ile2672Met)	675	BRCA2	Uncertain significance	730881562	RCV000160147; RCV000166822;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937355	32937355	NM_000059.3:c.8016A>G	NP_000050.2:p.Ile2672Met	NC_000013.10:g.32937355A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8020_8021delAA (p.Lys2674Aspfs)	675	BRCA2	not provided	397507952	RCV000045388;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937359	32937360	NM_000059.3:c.8020_8021delAA	NP_000050.2:p.Lys2674Aspfs	NC_000013.10:g.32937359_32937360delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8021delA (p.Lys2674Argfs)	675	BRCA2	not provided	397507953	RCV000045389;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937360	32937360	NM_000059.3:c.8021delA	NP_000050.2:p.Lys2674Argfs	NC_000013.10:g.32937360delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr)	675	BRCA2	Benign;Likely benign;Uncertain significance	80359038	RCV000045391; RCV000031718; RCV000212268; RCV000129443;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32937366	32937366	NM_000059.3:c.8027T>C	NP_000050.2:p.Met2676Thr	NC_000013.10:g.32937366T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8029_8030delGA (p.Glu2677Lysfs)	675	BRCA2	not provided	397507955	RCV000045392;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937368	32937369	NM_000059.3:c.8029_8030delGA	NP_000050.2:p.Glu2677Lysfs	NC_000013.10:g.32937368_32937369delGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8029delG (p.Glu2677Lysfs)	675	BRCA2	Pathogenic	80359691	RCV000045393; RCV000113857; RCV000166854;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937368	32937368	NM_000059.3:c.8029delG	NP_000050.2:p.Glu2677Lysfs	NC_000013.10:g.32937368delG	Breast Cancer Information Core (BRCA2):8257&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8032A>G (p.Arg2678Gly)	675	BRCA2	Uncertain significance	80359039	RCV000045394; RCV000077424;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937371	32937371	NM_000059.3:c.8032A>G	NP_000050.2:p.Arg2678Gly	NC_000013.10:g.32937371A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8032_8033dupAG (p.Asp2679Glyfs)	675	BRCA2	not provided	397507956	RCV000045395;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937371	32937372	NM_000059.3:c.8032_8033dupAG	NP_000050.2:p.Asp2679Glyfs	NC_000013.10:g.32937371_32937372dupAG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8035G>T (p.Asp2679Tyr)	675	BRCA2	Uncertain significance	80359040	RCV000045396; RCV000113858;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937374	32937374	NM_000059.3:c.8035G>T	NP_000050.2:p.Asp2679Tyr	NC_000013.10:g.32937374G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8036A>G (p.Asp2679Gly)	675	BRCA2	Uncertain significance	80359041	RCV000045397; RCV000113859; RCV000131797;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937375	32937375	NM_000059.3:c.8036A>G	NP_000050.2:p.Asp2679Gly	NC_000013.10:g.32937375A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8039A>G (p.Asp2680Gly)	675	BRCA2	Uncertain significance	80359042	RCV000045398; RCV000113860;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937378	32937378	NM_000059.3:c.8039A>G	NP_000050.2:p.Asp2680Gly	NC_000013.10:g.32937378A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8042_8043delCA (p.Thr2681Serfs)	675	BRCA2	Pathogenic	276174901	RCV000045399; RCV000077425;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937381	32937382	NM_000059.3:c.8042_8043delCA	NP_000050.2:p.Thr2681Serfs	NC_000013.10:g.32937381_32937382delCA	Breast Cancer Information Core (BRCA2):8270&base_change=del CA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8047_8054dupGCAAAAAC (p.Leu2686Glnfs)	675	BRCA2	Pathogenic	397507957	RCV000045400; RCV000218114;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32937386	32937393	NM_000059.3:c.8047_8054dupGCAAAAAC	NP_000050.2:p.Leu2686Glnfs	NC_000013.10:g.32937386_32937393dupGCAAAAAC	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8051A>G (p.Lys2684Arg)	675	BRCA2	Uncertain significance	80359043	RCV000045401; RCV000077426; RCV000132517;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937390	32937390	NM_000059.3:c.8051A>G	NP_000050.2:p.Lys2684Arg	NC_000013.10:g.32937390A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8053delA (p.Thr2685Hisfs)	675	BRCA2	not provided	397507958	RCV000045402;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937392	32937392	NM_000059.3:c.8053delA	NP_000050.2:p.Thr2685Hisfs	NC_000013.10:g.32937392delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8053dupA (p.Thr2685Asnfs)	675	BRCA2	not provided	397507959	RCV000045403;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937392	32937392	NM_000059.3:c.8053dupA	NP_000050.2:p.Thr2685Asnfs	NC_000013.10:g.32937392dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8056C>T (p.Leu2686Phe)	675	BRCA2	not provided	397507960	RCV000045404;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937395	32937395	NM_000059.3:c.8056C>T	NP_000050.2:p.Leu2686Phe	NC_000013.10:g.32937395C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8057T>C (p.Leu2686Pro)	675	BRCA2	Uncertain significance	28897746	RCV000045405; RCV000113861;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937396	32937396	NM_000059.3:c.8057T>C	NP_000050.2:p.Leu2686Pro	NC_000013.10:g.32937396T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8058delT (p.Val2687Phefs)	675	BRCA2	Pathogenic	80359692	RCV000045406; RCV000113862;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937397	32937397	NM_000059.3:c.8058delT	NP_000050.2:p.Val2687Phefs	NC_000013.10:g.32937397delT	Breast Cancer Information Core (BRCA2):8286&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8059G>T (p.Val2687Phe)	675	BRCA2	Uncertain significance	80359044	RCV000045407; RCV000113863; RCV000212269;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32937398	32937398	NM_000059.3:c.8059G>T	NP_000050.2:p.Val2687Phe	NC_000013.10:g.32937398G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.8063T>C (p.Leu2688Pro)	675	BRCA2	Likely pathogenic;Uncertain significance	80359045	RCV000045408; RCV000031719; RCV000219486;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32937402	32937402	NM_000059.3:c.8063T>C	NP_000050.2:p.Leu2688Pro	NC_000013.10:g.32937402T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8064_8065delCT (p.Val2690Phefs)	675	BRCA2	not provided	397507961	RCV000045409;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937403	32937404	NM_000059.3:c.8064_8065delCT	NP_000050.2:p.Val2690Phefs	NC_000013.10:g.32937403_32937404delCT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter)	675	BRCA2	Likely pathogenic;Pathogenic	80359046	RCV000045410; RCV000113864;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937406	32937406	NM_000059.3:c.8067T>A	NP_000050.2:p.Cys2689Ter	NC_000013.10:g.32937406T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8067delT (p.Cys2689Trpfs)	675	BRCA2	Pathogenic	80359693	RCV000045411; RCV000113865;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937406	32937406	NM_000059.3:c.8067delT	NP_000050.2:p.Cys2689Trpfs	NC_000013.10:g.32937406delT	Breast Cancer Information Core (BRCA2):8295&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8068_8069delGT (p.Val2690Phefs)	675	BRCA2	Pathogenic	80359694	RCV000045412; RCV000113866;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937407	32937408	NM_000059.3:c.8068_8069delGT	NP_000050.2:p.Val2690Phefs	NC_000013.10:g.32937407_32937408delGT	Breast Cancer Information Core (BRCA2):8296&base_change=del GT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8072C>T (p.Ser2691Phe)	675	BRCA2	Uncertain significance	80359047	RCV000045414; RCV000113867;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937411	32937411	NM_000059.3:c.8072C>T	NP_000050.2:p.Ser2691Phe	NC_000013.10:g.32937411C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8072_8073delCT (p.Ser2691Terfs)	675	BRCA2	not provided	397507963	RCV000045415;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937411	32937412	NM_000059.3:c.8072_8073delCT	NP_000050.2:p.Ser2691Terfs	NC_000013.10:g.32937411_32937412delCT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8084C>G (p.Ser2695Ter)	675	BRCA2	Pathogenic	80359048	RCV000045416; RCV000113868;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937423	32937423	NM_000059.3:c.8084C>G	NP_000050.2:p.Ser2695Ter	NC_000013.10:g.32937423C>G,NC_000013.10:g.32937423C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8084C>T (p.Ser2695Leu)	675	BRCA2	Uncertain significance	80359048	RCV000045417; RCV000113869;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937423	32937423	NM_000059.3:c.8084C>T	NP_000050.2:p.Ser2695Leu	NC_000013.10:g.32937423C>G,NC_000013.10:g.32937423C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8087T>A (p.Leu2696Ter)	675	BRCA2	Pathogenic	80359050	RCV000045418; RCV000113870;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937426	32937426	NM_000059.3:c.8087T>A	NP_000050.2:p.Leu2696Ter	NC_000013.10:g.32937426T>A,NC_000013.10:g.32937426T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8087delT (p.Leu2696Terfs)	675	BRCA2	Pathogenic	80359695	RCV000045419; RCV000113871;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937426	32937426	NM_000059.3:c.8087delT	NP_000050.2:p.Leu2696Terfs	NC_000013.10:g.32937426delT	Breast Cancer Information Core (BRCA2):8315&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8092G>A (p.Ala2698Thr)	675	BRCA2	Likely benign;Uncertain significance	80359052	RCV000074554; RCV000031720; RCV000129982;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937431	32937431	NM_000059.3:c.8092G>A	NP_000050.2:p.Ala2698Thr	NC_000013.10:g.32937431G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8111C>T (p.Ser2704Phe)	675	BRCA2	Uncertain significance	80359054	RCV000045424; RCV000113873; RCV000166944; RCV000148440;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221572	13	32937450	32937450	NM_000059.3:c.8111C>T	NP_000050.2:p.Ser2704Phe	NC_000013.10:g.32937450C>T	-	CN221572 Breast cancer; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8130delT (p.Ser2710Argfs)	675	BRCA2	Pathogenic	80359696	RCV000045426; RCV000113874;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937469	32937469	NM_000059.3:c.8130delT	NP_000050.2:p.Ser2710Argfs	NC_000013.10:g.32937469delT	Breast Cancer Information Core (BRCA2):8358&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8134G>A (p.Asp2712Asn)	675	BRCA2	Uncertain significance	80359056	RCV000045427; RCV000083144; RCV000218294; RCV000130697;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32937473	32937473	NM_000059.3:c.8134G>A	NP_000050.2:p.Asp2712Asn	NC_000013.10:g.32937473G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8135A>T (p.Asp2712Val)	675	BRCA2	Uncertain significance	80359057	RCV000045428; RCV000077428; RCV000130071;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937474	32937474	NM_000059.3:c.8135A>T	NP_000050.2:p.Asp2712Val	NC_000013.10:g.32937474A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8140C>T (p.Gln2714Ter)	675	BRCA2	Pathogenic	80359058	RCV000045429; RCV000113875;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937479	32937479	NM_000059.3:c.8140C>T	NP_000050.2:p.Gln2714Ter	NC_000013.10:g.32937479C>G,NC_000013.10:g.32937479C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8141A>G (p.Gln2714Arg)	675	BRCA2	Uncertain significance	80359059	RCV000045430; RCV000113876; RCV000212270; RCV000129843;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32937480	32937480	NM_000059.3:c.8141A>G	NP_000050.2:p.Gln2714Arg	NC_000013.10:g.32937480A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8162T>A (p.Leu2721His)	675	BRCA2	Uncertain significance	80359061	RCV000045433; RCV000113878; RCV000223648;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32937501	32937501	NM_000059.3:c.8162T>A	NP_000050.2:p.Leu2721His	NC_000013.10:g.32937501T>A,NC_000013.10:g.32937501T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8162T>G (p.Leu2721Arg)	675	BRCA2	not provided	80359061	RCV000045434;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937501	32937501	NM_000059.3:c.8162T>G	NP_000050.2:p.Leu2721Arg	NC_000013.10:g.32937501T>A,NC_000013.10:g.32937501T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8165C>G (p.Thr2722Arg)	675	BRCA2	Pathogenic	80359062	RCV000045435; RCV000031723; RCV000163026;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937504	32937504	NM_000059.3:c.8165C>G	NP_000050.2:p.Thr2722Arg	NC_000013.10:g.32937504C>G	OMIM Allelic Variant:600185.0025	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8168A>G (p.Asp2723Gly)	675	BRCA2	Pathogenic	41293513	RCV000045438; RCV000031724; RCV000216099; RCV000131682;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32937507	32937507	NM_000059.3:c.8168A>G	NP_000050.2:p.Asp2723Gly	NC_000013.10:g.32937507A>C,NC_000013.10:g.32937507A>G,NC_000013.10:g.32937507A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.8168A>C (p.Asp2723Ala)	675	BRCA2	Likely pathogenic;Uncertain significance	41293513	RCV000045437; RCV000113879; RCV000218818; RCV000200976;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	13	32937507	32937507	NM_000059.3:c.8168A>C	NP_000050.2:p.Asp2723Ala	NC_000013.10:g.32937507A>C,NC_000013.10:g.32937507A>G,NC_000013.10:g.32937507A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8171G>T (p.Gly2724Val)	675	BRCA2	Uncertain significance	80359063	RCV000045439; RCV000113881;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937510	32937510	NM_000059.3:c.8171G>T	NP_000050.2:p.Gly2724Val	NC_000013.10:g.32937510G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8172_8175dupGTGG (p.Tyr2726Valfs)	675	BRCA2	not provided	397507964	RCV000045440;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937511	32937514	NM_000059.3:c.8172_8175dupGTGG	NP_000050.2:p.Tyr2726Valfs	NC_000013.10:g.32937511_32937514dupGTGG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8174_8185delGGTATGCTGTTAinsTT (p.Trp2725Phefs)	675	BRCA2	Pathogenic	730881615	RCV000160307;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937513	32937524	NM_000059.3:c.8174_8185delGGTATGCTGTTAinsTT	NP_000050.2:p.Trp2725Phefs	NC_000013.10:g.32937513_32937524delGGTATGCTGTTAinsTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8175G>A (p.Trp2725Ter)	675	BRCA2	not provided	397507965	RCV000045441;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937514	32937514	NM_000059.3:c.8175G>A	NP_000050.2:p.Trp2725Ter	NC_000013.10:g.32937514G>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8177A>G (p.Tyr2726Cys)	675	BRCA2	Uncertain significance	80359064	RCV000045442; RCV000077430; RCV000212271; RCV000130671;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32937516	32937516	NM_000059.3:c.8177A>G	NP_000050.2:p.Tyr2726Cys	NC_000013.10:g.32937516A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8182G>C (p.Val2728Leu)	675	BRCA2	Benign	28897749	RCV000045444; RCV000113883;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937521	32937521	NM_000059.3:c.8182G>C	NP_000050.2:p.Val2728Leu	NC_000013.10:g.32937521G>A,NC_000013.10:g.32937521G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn)	675	BRCA2	Benign	80359065	RCV000124007; RCV000113885; RCV000045445; RCV000120363; RCV000129090;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32937526	32937526	NM_000059.3:c.8187G>T	NP_000050.2:p.Lys2729Asn	NC_000013.10:g.32937526G>A,NC_000013.10:g.32937526G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8189C>T (p.Ala2730Val)	675	BRCA2	Uncertain significance	80359067	RCV000045446; RCV000113887;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937528	32937528	NM_000059.3:c.8189C>T	NP_000050.2:p.Ala2730Val	NC_000013.10:g.32937528C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8191C>T (p.Gln2731Ter)	675	BRCA2	not provided	397507966	RCV000045449;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937530	32937530	NM_000059.3:c.8191C>T	NP_000050.2:p.Gln2731Ter	NC_000013.10:g.32937530C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8195T>G (p.Leu2732Ter)	675	BRCA2	not provided	397507967	RCV000045450;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937534	32937534	NM_000059.3:c.8195T>G	NP_000050.2:p.Leu2732Ter	NC_000013.10:g.32937534T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8206dupC (p.Leu2736Profs)	675	BRCA2	not provided	397507968	RCV000045451;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937545	32937545	NM_000059.3:c.8206dupC	NP_000050.2:p.Leu2736Profs	NC_000013.10:g.32937545dupC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8207delT (p.Leu2736Profs)	675	BRCA2	not provided	397507969	RCV000045452;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937546	32937546	NM_000059.3:c.8207delT	NP_000050.2:p.Leu2736Profs	NC_000013.10:g.32937546delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile)	675	BRCA2	Likely benign;Uncertain significance	80359069	RCV000045453; RCV000077431; RCV000214196; RCV000129733;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32937554	32937554	NM_000059.3:c.8215G>A	NP_000050.2:p.Val2739Ile	NC_000013.10:g.32937554G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8219T>A (p.Leu2740Ter)	675	BRCA2	Pathogenic	80359070	RCV000045454; RCV000113889; RCV000009934;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1838457,OMIM:605724,ORPHA:319462; MedGen:C2675520,OMIM:612555	13	32937558	32937558	NM_000059.3:c.8219T>A	NP_000050.2:p.Leu2740Ter	NC_000013.10:g.32937558T>A	OMIM Allelic Variant:600185.0028	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C1838457 605724 Fanconi anemia, complementation group D1
NM_000059.3(BRCA2):c.8228_8229insA (p.Arg2744Glnfs)	675	BRCA2	not provided	397507970	RCV000045455;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937567	32937568	NM_000059.3:c.8228_8229insA	NP_000050.2:p.Arg2744Glnfs	NC_000013.10:g.32937567_32937568insA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8229_8243delCAGACTGACAGTTGG (p.Arg2744_Gly2748del)	675	BRCA2	Uncertain significance	80359698	RCV000045456; RCV000113891; RCV000129438;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937568	32937582	NM_000059.3:c.8229_8243delCAGACTGACAGTTGG	NP_000050.2:p.Arg2744_Gly2748del	NC_000013.10:g.32937568_32937582delCAGACTGACAGTTGG	Breast Cancer Information Core (BRCA2):8457&base_change=del 15	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8234_8237delTGAC (p.Leu2745Glnfs)	675	BRCA2	Pathogenic	80359699	RCV000045457; RCV000113893;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937573	32937576	NM_000059.3:c.8234_8237delTGAC	NP_000050.2:p.Leu2745Glnfs	NC_000013.10:g.32937573_32937576delTGAC	Breast Cancer Information Core (BRCA2):8462&base_change=del TGAC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8234dupT (p.Thr2746Aspfs)	675	BRCA2	Pathogenic	276174903	RCV000045458; RCV000113892;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937573	32937573	NM_000059.3:c.8234dupT	NP_000050.2:p.Thr2746Aspfs	NC_000013.10:g.32937573dupT	Breast Cancer Information Core (BRCA2):8462&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8237_8238delCA (p.Thr2746Serfs)	675	BRCA2	Pathogenic	80359700	RCV000045459; RCV000113894;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937576	32937577	NM_000059.3:c.8237_8238delCA	NP_000050.2:p.Thr2746Serfs	NC_000013.10:g.32937576_32937577delCA	Breast Cancer Information Core (BRCA2):8465&base_change=del CA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp)	675	BRCA2	Pathogenic	80359071	RCV000045460; RCV000113895; RCV000216216;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32937582	32937582	NM_000059.3:c.8243G>A	NP_000050.2:p.Gly2748Asp	NC_000013.10:g.32937582G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8247_8248delGA (p.Lys2750Aspfs)	675	BRCA2	Pathogenic	80359701	RCV000045461; RCV000077432; RCV000162938;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937586	32937587	NM_000059.3:c.8247_8248delGA	NP_000050.2:p.Lys2750Aspfs	NC_000013.10:g.32937586_32937587delGA	Breast Cancer Information Core (BRCA2):8474&base_change=del AG,Breast Cancer Information Core (BRCA2):8475&base_change=del GA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8249_8251delAGA (p.Lys2750del)	675	BRCA2	Uncertain significance	80359703	RCV000045462; RCV000077433; RCV000164620;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937588	32937590	NM_000059.3:c.8249_8251delAGA	NP_000050.2:p.Lys2750del	NC_000013.10:g.32937588_32937590delAGA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8254A>T (p.Ile2752Phe)	675	BRCA2	Uncertain significance	80359072	RCV000045463; RCV000113898; RCV000130435;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937593	32937593	NM_000059.3:c.8254A>T	NP_000050.2:p.Ile2752Phe	NC_000013.10:g.32937593A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8258_8260delTTC (p.Leu2753del)	675	BRCA2	not provided	397507971	RCV000045464;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937597	32937599	NM_000059.3:c.8258_8260delTTC	NP_000050.2:p.Leu2753del	NC_000013.10:g.32937597_32937599delTTC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8285delC (p.Pro2762Leufs)	675	BRCA2	not provided	397507972	RCV000045465;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937624	32937624	NM_000059.3:c.8285delC	NP_000050.2:p.Pro2762Leufs	NC_000013.10:g.32937624delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8298_8299dupAC (p.Pro2767Hisfs)	675	BRCA2	not provided	397507973	RCV000045467;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937637	32937638	NM_000059.3:c.8298_8299dupAC	NP_000050.2:p.Pro2767Hisfs	NC_000013.10:g.32937637_32937638dupAC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8308G>A (p.Ala2770Thr)	675	BRCA2	Likely benign	397507974	RCV000045468; RCV000219587;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32937647	32937647	NM_000059.3:c.8308G>A	NP_000050.2:p.Ala2770Thr	NC_000013.10:g.32937647G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8314G>T (p.Glu2772Ter)	675	BRCA2	Pathogenic	397507975	RCV000045469; RCV000166747;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937653	32937653	NM_000059.3:c.8314G>T	NP_000050.2:p.Glu2772Ter	NC_000013.10:g.32937653G>A,NC_000013.10:g.32937653G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8317_8330delTCTCTTATGTTAAA (p.Ser2773Aspfs)	675	BRCA2	not provided	397507976	RCV000045470;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937656	32937669	NM_000059.3:c.8317_8330delTCTCTTATGTTAAA	NP_000050.2:p.Ser2773Aspfs	NC_000013.10:g.32937656_32937669delTCTCTTATGTTAAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8322dupT (p.Met2775Tyrfs)	675	BRCA2	Pathogenic	80359706	RCV000045472; RCV000031736; RCV000220249;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32937661	32937661	NM_000059.3:c.8322dupT	NP_000050.2:p.Met2775Tyrfs	NC_000013.10:g.32937661dupT	Breast Cancer Information Core (BRCA2):8550&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8327T>G (p.Leu2776Ter)	675	BRCA2	not provided	397507977	RCV000045475;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937666	32937666	NM_000059.3:c.8327T>G	NP_000050.2:p.Leu2776Ter	NC_000013.10:g.32937666T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8330_8331delAG (p.Lys2777Asnfs)	675	BRCA2	not provided	397507978	RCV000045476;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32937669	32937670	NM_000059.3:c.8330_8331delAG	NP_000050.2:p.Lys2777Asnfs	NC_000013.10:g.32937669_32937670delAG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8331G>A (p.Lys2777=)	675	BRCA2	Uncertain significance	80359802	RCV000045480; RCV000113906;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937670	32937670	NM_000059.3:c.8331G>A	NP_000050.2:p.Lys2777=	NC_000013.10:g.32937670G>A	Breast Cancer Information Core (BRCA2):8559&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8331+1G>A	675	BRCA2	Likely pathogenic;Pathogenic	81002837	RCV000045477; RCV000031737; RCV000212272; RCV000166511;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32937671	32937671	NM_000059.3:c.8331+1G>A		NC_000013.10:g.32937671G>A,NC_000013.10:g.32937671G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.8331+1G>T	675	BRCA2	Pathogenic	81002837	RCV000045478; RCV000113904;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937671	32937671	NM_000059.3:c.8331+1G>T		NC_000013.10:g.32937671G>A,NC_000013.10:g.32937671G>T	Breast Cancer Information Core (BRCA2):8559+1&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8331+70A>C	675	BRCA2	Uncertain significance	276174905	RCV000045479; RCV000113905;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32937740	32937740	NM_000059.3:c.8331+70A>C		NC_000013.10:g.32937740A>C	Breast Cancer Information Core (BRCA2):8559+70&base_change=A to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8332-64A>G	675	BRCA2	Uncertain significance	81002866	RCV000045482; RCV000113907;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944475	32944475	NM_000059.3:c.8332-64A>G		NC_000013.10:g.32944475A>G	Breast Cancer Information Core (BRCA2):8560-64&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8332-1G>C	675	BRCA2	not provided	397507979	RCV000045481;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944538	32944538	NM_000059.3:c.8332-1G>C		NC_000013.10:g.32944538G>C,NC_000013.10:g.32944538G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8340_8343delTAAC (p.Asn2781Valfs)	675	BRCA2	Pathogenic	80359707	RCV000045484; RCV000077434; RCV000162939;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944547	32944550	NM_000059.3:c.8340_8343delTAAC	NP_000050.2:p.Asn2781Valfs	NC_000013.10:g.32944547_32944550delTAAC	Breast Cancer Information Core (BRCA2):8568&base_change=del TAAC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8343delC (p.Asn2781Lysfs)	675	BRCA2	Pathogenic	80359708	RCV000045485; RCV000113910;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944550	32944550	NM_000059.3:c.8343delC	NP_000050.2:p.Asn2781Lysfs	NC_000013.10:g.32944550delC	Breast Cancer Information Core (BRCA2):8571&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8348dupC (p.Arg2784Serfs)	675	BRCA2	not provided	397507980	RCV000045486;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944555	32944555	NM_000059.3:c.8348dupC	NP_000050.2:p.Arg2784Serfs	NC_000013.10:g.32944555dupC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr)	675	BRCA2	Likely benign;Uncertain significance	80359077	RCV000045489; RCV000077436; RCV000220216; RCV000130784;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32944563	32944563	NM_000059.3:c.8356G>A	NP_000050.2:p.Ala2786Thr	NC_000013.10:g.32944563G>A,NC_000013.10:g.32944563G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8356G>C (p.Ala2786Pro)	675	BRCA2	Uncertain significance	80359077	RCV000045490; RCV000113911;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944563	32944563	NM_000059.3:c.8356G>C	NP_000050.2:p.Ala2786Pro	NC_000013.10:g.32944563G>A,NC_000013.10:g.32944563G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8359C>T (p.Arg2787Cys)	675	BRCA2	Uncertain significance	41293517	RCV000045491; RCV000113912; RCV000130122;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944566	32944566	NM_000059.3:c.8359C>T	NP_000050.2:p.Arg2787Cys	NC_000013.10:g.32944566C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8360G>A (p.Arg2787His)	675	BRCA2	Uncertain significance	80359078	RCV000045492; RCV000031739; RCV000214554; RCV000212273;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32944567	32944567	NM_000059.3:c.8360G>A	NP_000050.2:p.Arg2787His	NC_000013.10:g.32944567G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8362T>C (p.Trp2788Arg)	675	BRCA2	Uncertain significance	80359079	RCV000045493; RCV000113915; RCV000219719;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32944569	32944569	NM_000059.3:c.8362T>C	NP_000050.2:p.Trp2788Arg	NC_000013.10:g.32944569T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8363G>A (p.Trp2788Ter)	675	BRCA2	Pathogenic	80359080	RCV000045494; RCV000162060;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944570	32944570	NM_000059.3:c.8363G>A	NP_000050.2:p.Trp2788Ter	NC_000013.10:g.32944570G>A,NC_000013.10:g.32944570G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8363G>C (p.Trp2788Ser)	675	BRCA2	Uncertain significance	80359080	RCV000045495; RCV000113916;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944570	32944570	NM_000059.3:c.8363G>C	NP_000050.2:p.Trp2788Ser	NC_000013.10:g.32944570G>A,NC_000013.10:g.32944570G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8364G>A (p.Trp2788Ter)	675	BRCA2	Pathogenic	397507981	RCV000045496; RCV000216791;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32944571	32944571	NM_000059.3:c.8364G>A	NP_000050.2:p.Trp2788Ter	NC_000013.10:g.32944571G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8375T>C (p.Leu2792Pro)	675	BRCA2	Uncertain significance	28897751	RCV000045498; RCV000113921;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944582	32944582	NM_000059.3:c.8375T>C	NP_000050.2:p.Leu2792Pro	NC_000013.10:g.32944582T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8382C>G (p.Phe2794Leu)	675	BRCA2	Uncertain significance	80359084	RCV000045501; RCV000113922; RCV000130127;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944589	32944589	NM_000059.3:c.8382C>G	NP_000050.2:p.Phe2794Leu	NC_000013.10:g.32944589C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8393C>T (p.Pro2798Leu)	675	BRCA2	Uncertain significance	276174906	RCV000045503; RCV000113923;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944600	32944600	NM_000059.3:c.8393C>T	NP_000050.2:p.Pro2798Leu	NC_000013.10:g.32944600C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8394_8396delTAGinsAA (p.Arg2799Asnfs)	675	BRCA2	Pathogenic	276174907	RCV000045504; RCV000113924;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944601	32944603	NM_000059.3:c.8394_8396delTAGinsAA	NP_000050.2:p.Arg2799Asnfs	NC_000013.10:g.32944601_32944603delTAGinsAA	Breast Cancer Information Core (BRCA2):8622&base_change=del TAG ins AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8395delA (p.Arg2799Aspfs)	675	BRCA2	Pathogenic	80359709	RCV000045505; RCV000113925;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944602	32944602	NM_000059.3:c.8395delA	NP_000050.2:p.Arg2799Aspfs	NC_000013.10:g.32944602delA	Breast Cancer Information Core (BRCA2):8623&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8396G>C (p.Arg2799Thr)	675	BRCA2	not provided	397507982	RCV000045506;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944603	32944603	NM_000059.3:c.8396G>C	NP_000050.2:p.Arg2799Thr	NC_000013.10:g.32944603G>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8398C>T (p.Pro2800Ser)	675	BRCA2	Uncertain significance	80359086	RCV000045507; RCV000113926;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944605	32944605	NM_000059.3:c.8398C>T	NP_000050.2:p.Pro2800Ser	NC_000013.10:g.32944605C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8399C>G (p.Pro2800Arg)	675	BRCA2	Uncertain significance	80359087	RCV000045508; RCV000113927;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944606	32944606	NM_000059.3:c.8399C>G	NP_000050.2:p.Pro2800Arg	NC_000013.10:g.32944606C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8414T>C (p.Leu2805Ser)	675	BRCA2	not provided	397507983	RCV000045509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944621	32944621	NM_000059.3:c.8414T>C	NP_000050.2:p.Leu2805Ser	NC_000013.10:g.32944621T>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8415_8416delAT (p.Leu2805Phefs)	675	BRCA2	not provided	397507984	RCV000045510;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944622	32944623	NM_000059.3:c.8415_8416delAT	NP_000050.2:p.Leu2805Phefs	NC_000013.10:g.32944622_32944623delAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8415dupA (p.Ser2806Ilefs)	675	BRCA2	not provided	397507985	RCV000045511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944622	32944622	NM_000059.3:c.8415dupA	NP_000050.2:p.Ser2806Ilefs	NC_000013.10:g.32944622dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8420C>T (p.Ser2807Leu)	675	BRCA2	Uncertain significance	55763607	RCV000045513; RCV000083147; RCV000212274; RCV000130247;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32944627	32944627	NM_000059.3:c.8420C>T	NP_000050.2:p.Ser2807Leu	NC_000013.10:g.32944627C>A,NC_000013.10:g.32944627C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8428A>C (p.Ser2810Arg)	675	BRCA2	Uncertain significance	80359089	RCV000045514; RCV000113929;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944635	32944635	NM_000059.3:c.8428A>C	NP_000050.2:p.Ser2810Arg	NC_000013.10:g.32944635A>C,NC_000013.10:g.32944635A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8428A>G (p.Ser2810Gly)	675	BRCA2	Uncertain significance	80359089	RCV000045515; RCV000113930; RCV000129757;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944635	32944635	NM_000059.3:c.8428A>G	NP_000050.2:p.Ser2810Gly	NC_000013.10:g.32944635A>C,NC_000013.10:g.32944635A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8432A>G (p.Asp2811Gly)	675	BRCA2	Uncertain significance	80359090	RCV000045516; RCV000113931;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944639	32944639	NM_000059.3:c.8432A>G	NP_000050.2:p.Asp2811Gly	NC_000013.10:g.32944639A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8436dupA (p.Gly2813Argfs)	675	BRCA2	Pathogenic	80359710	RCV000045518; RCV000113932;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944643	32944643	NM_000059.3:c.8436dupA	NP_000050.2:p.Gly2813Argfs	NC_000013.10:g.32944643dupA	Breast Cancer Information Core (BRCA2):8664&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8437_8439delGGA (p.Gly2813del)	675	BRCA2	not provided	397507986	RCV000045519;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944644	32944646	NM_000059.3:c.8437_8439delGGA	NP_000050.2:p.Gly2813del	NC_000013.10:g.32944644_32944646delGGA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8438G>A (p.Gly2813Glu)	675	BRCA2	Uncertain significance	80359092	RCV000045520; RCV000113933;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944645	32944645	NM_000059.3:c.8438G>A	NP_000050.2:p.Gly2813Glu	NC_000013.10:g.32944645G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8443G>A (p.Val2815Ile)	675	BRCA2	Uncertain significance	80359093	RCV000045521; RCV000113934;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944650	32944650	NM_000059.3:c.8443G>A	NP_000050.2:p.Val2815Ile	NC_000013.10:g.32944650G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8451T>A (p.Cys2817Ter)	675	BRCA2	not provided	397507987	RCV000045522;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944658	32944658	NM_000059.3:c.8451T>A	NP_000050.2:p.Cys2817Ter	NC_000013.10:g.32944658T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8452G>A (p.Val2818Ile)	675	BRCA2	Uncertain significance	80359094	RCV000045523; RCV000113935; RCV000212275; RCV000166574;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32944659	32944659	NM_000059.3:c.8452G>A	NP_000050.2:p.Val2818Ile	NC_000013.10:g.32944659G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8458G>T (p.Val2820Leu)	675	BRCA2	Uncertain significance	80359095	RCV000045524; RCV000113936;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944665	32944665	NM_000059.3:c.8458G>T	NP_000050.2:p.Val2820Leu	NC_000013.10:g.32944665G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8462T>C (p.Ile2821Thr)	675	BRCA2	Uncertain significance	80359096	RCV000045526; RCV000113938;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944669	32944669	NM_000059.3:c.8462T>C	NP_000050.2:p.Ile2821Thr	NC_000013.10:g.32944669T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8463dupT (p.Ile2822Tyrfs)	675	BRCA2	not provided	397507988	RCV000045527;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32944670	32944670	NM_000059.3:c.8463dupT	NP_000050.2:p.Ile2822Tyrfs	NC_000013.10:g.32944670dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8474delC (p.Ala2825Aspfs)	675	BRCA2	Pathogenic	80359711	RCV000045528; RCV000113939; RCV000166065;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944681	32944681	NM_000059.3:c.8474delC	NP_000050.2:p.Ala2825Aspfs	NC_000013.10:g.32944681delC	Breast Cancer Information Core (BRCA2):8702&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8482A>G (p.Ile2828Val)	675	BRCA2	Uncertain significance	80359098	RCV000045530; RCV000113940; RCV000129626;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944689	32944689	NM_000059.3:c.8482A>G	NP_000050.2:p.Ile2828Val	NC_000013.10:g.32944689A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8485C>T (p.Gln2829Ter)	675	BRCA2	Pathogenic	80359099	RCV000045531; RCV000113942;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944692	32944692	NM_000059.3:c.8485C>T	NP_000050.2:p.Gln2829Ter	NC_000013.10:g.32944692C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8486A>G (p.Gln2829Arg)	675	BRCA2	Likely pathogenic;Uncertain significance	80359100	RCV000045532; RCV000031744; RCV000168607;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32944693	32944693	NM_000059.3:c.8486A>G	NP_000050.2:p.Gln2829Arg	NC_000013.10:g.32944693A>G,NC_000013.10:g.32944693A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.8486A>T (p.Gln2829Leu)	675	BRCA2	Uncertain significance	80359100	RCV000045533; RCV000113943;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944693	32944693	NM_000059.3:c.8486A>T	NP_000050.2:p.Gln2829Leu	NC_000013.10:g.32944693A>G,NC_000013.10:g.32944693A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8487+1G>A	675	BRCA2	Pathogenic	81002798	RCV000045534; RCV000077441; RCV000220501; RCV000212276; RCV000122367; RCV000131086;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32944695	32944695	NM_000059.3:c.8487+1G>A		NC_000013.10:g.32944695G>A,NC_000013.10:g.32944695G>T	Breast Cancer Information Core (BRCA2):8715+1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.8487+3A>G	675	BRCA2	Uncertain significance	81002806	RCV000045535; RCV000113945;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944697	32944697	NM_000059.3:c.8487+3A>G		NC_000013.10:g.32944697A>G	Breast Cancer Information Core (BRCA2):8715+3&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8487+4T>C	675	BRCA2	Uncertain significance	81002801	RCV000045536; RCV000113947;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32944698	32944698	NM_000059.3:c.8487+4T>C		NC_000013.10:g.32944698T>C	Breast Cancer Information Core (BRCA2):8715+4&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8489G>A (p.Trp2830Ter)	675	BRCA2	Pathogenic	80359101	RCV000045538; RCV000077442; RCV000222775;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32945094	32945094	NM_000059.3:c.8489G>A	NP_000050.2:p.Trp2830Ter	NC_000013.10:g.32945094G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_000059.3(BRCA2):c.8490G>A (p.Trp2830Ter)	675	BRCA2	Pathogenic	587776351	RCV000143787;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945095	32945095	NM_000059.3:c.8490G>A	NP_000050.2:p.Trp2830Ter	NC_000013.10:g.32945095G>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8501delC (p.Thr2834Asnfs)	675	BRCA2	Pathogenic	80359712	RCV000045539; RCV000031749;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945106	32945106	NM_000059.3:c.8501delC	NP_000050.2:p.Thr2834Asnfs	NC_000013.10:g.32945106delC	Breast Cancer Information Core (BRCA2):8729&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8504C>A (p.Ser2835Ter)	675	BRCA2	Pathogenic	80359102	RCV000045541; RCV000113951;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945109	32945109	NM_000059.3:c.8504C>A	NP_000050.2:p.Ser2835Ter	NC_000013.10:g.32945109C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8505delA (p.Ser2836Leufs)	675	BRCA2	Pathogenic	80359713	RCV000045542; RCV000113952; RCV000164732;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945110	32945110	NM_000059.3:c.8505delA	NP_000050.2:p.Ser2836Leufs	NC_000013.10:g.32945110delA	Breast Cancer Information Core (BRCA2):8733&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8524C>T (p.Arg2842Cys)	675	BRCA2	Likely benign;Uncertain significance	80359104	RCV000045544; RCV000077443; RCV000212277; RCV000165225;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32945129	32945129	NM_000059.3:c.8524C>T	NP_000050.2:p.Arg2842Cys	NC_000013.10:g.32945129C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8525G>A (p.Arg2842His)	675	BRCA2	Benign	80359105	RCV000045545; RCV000077444; RCV000167773; RCV000163013;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32945130	32945130	NM_000059.3:c.8525G>A	NP_000050.2:p.Arg2842His	NC_000013.10:g.32945130G>A,NC_000013.10:g.32945130G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8528A>G (p.Asn2843Ser)	675	BRCA2	Uncertain significance	80359107	RCV000045546; RCV000113955;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945133	32945133	NM_000059.3:c.8528A>G	NP_000050.2:p.Asn2843Ser	NC_000013.10:g.32945133A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8528delA (p.Asn2843Metfs)	675	BRCA2	not provided	397507989	RCV000045547;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945133	32945133	NM_000059.3:c.8528delA	NP_000050.2:p.Asn2843Metfs	NC_000013.10:g.32945133delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8532_8533delAA (p.Glu2846Glyfs)	675	BRCA2	not provided	397507990	RCV000045548;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945137	32945138	NM_000059.3:c.8532_8533delAA	NP_000050.2:p.Glu2846Glyfs	NC_000013.10:g.32945137_32945138delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8535_8538delAGAG (p.Glu2846Lysfs)	675	BRCA2	Pathogenic	80359715	RCV000045549; RCV000113957;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945140	32945143	NM_000059.3:c.8535_8538delAGAG	NP_000050.2:p.Glu2846Lysfs	NC_000013.10:g.32945140_32945143delAGAG	Breast Cancer Information Core (BRCA2):8763&base_change=del AGAG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8545A>G (p.Lys2849Glu)	675	BRCA2	Uncertain significance	80359109	RCV000045552; RCV000077445; RCV000162806;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945150	32945150	NM_000059.3:c.8545A>G	NP_000050.2:p.Lys2849Glu	NC_000013.10:g.32945150A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8546delA (p.Lys2849Argfs)	675	BRCA2	not provided	397507991	RCV000045553;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945151	32945151	NM_000059.3:c.8546delA	NP_000050.2:p.Lys2849Argfs	NC_000013.10:g.32945151delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8548_8551delGAAG (p.Glu2850Glnfs)	675	BRCA2	Pathogenic	397507406	RCV000045555; RCV000031750;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945153	32945156	NM_000059.3:c.8548_8551delGAAG	NP_000050.2:p.Glu2850Glnfs	NC_000013.10:g.32945153_32945156delGAAG	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8548G>A (p.Glu2850Lys)	675	BRCA2	Uncertain significance	80359110	RCV000045554; RCV000113959;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945153	32945153	NM_000059.3:c.8548G>A	NP_000050.2:p.Glu2850Lys	NC_000013.10:g.32945153G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8560delT (p.Tyr2854Metfs)	675	BRCA2	Pathogenic	80359717	RCV000045556; RCV000113960;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945165	32945165	NM_000059.3:c.8560delT	NP_000050.2:p.Tyr2854Metfs	NC_000013.10:g.32945165delT	Breast Cancer Information Core (BRCA2):8788&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8561dupA (p.Tyr2854Terfs)	675	BRCA2	not provided	397507992	RCV000045557;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945166	32945166	NM_000059.3:c.8561dupA	NP_000050.2:p.Tyr2854Terfs	NC_000013.10:g.32945166dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8572C>A (p.Gln2858Lys)	675	BRCA2	Uncertain significance	80359112	RCV000045560; RCV000113961; RCV000212278; RCV000166603;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32945177	32945177	NM_000059.3:c.8572C>A	NP_000050.2:p.Gln2858Lys	NC_000013.10:g.32945177C>A,NC_000013.10:g.32945177C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8572C>T (p.Gln2858Ter)	675	BRCA2	Pathogenic	80359112	RCV000045561; RCV000113962;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945177	32945177	NM_000059.3:c.8572C>T	NP_000050.2:p.Gln2858Ter	NC_000013.10:g.32945177C>A,NC_000013.10:g.32945177C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg)	675	BRCA2	Likely benign;Uncertain significance	80359114	RCV000045562; RCV000113963; RCV000176022; RCV000212279; RCV000131683;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32945178	32945178	NM_000059.3:c.8573A>G	NP_000050.2:p.Gln2858Arg	NC_000013.10:g.32945178A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.8579delA (p.Lys2860Argfs)	675	BRCA2	not provided	397507993	RCV000045565;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945184	32945184	NM_000059.3:c.8579delA	NP_000050.2:p.Lys2860Argfs	NC_000013.10:g.32945184delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8585dupT (p.Glu2863Argfs)	675	BRCA2	Pathogenic	80359720	RCV000045566; RCV000031753; RCV000218001;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32945190	32945190	NM_000059.3:c.8585dupT	NP_000050.2:p.Glu2863Argfs	NC_000013.10:g.32945190dupT	Breast Cancer Information Core (BRCA2):8813&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8588_8590dupAAG (p.Glu2863_Ala2864insGlu)	675	BRCA2	Uncertain significance	730881616	RCV000160309; RCV000164688;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945193	32945195	NM_000059.3:c.8588_8590dupAAG	NP_000050.2:p.Glu2863_Ala2864insGlu	NC_000013.10:g.32945193_32945195dupAAG	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8591C>T (p.Ala2864Val)	675	BRCA2	Uncertain significance	80359116	RCV000045567; RCV000113966; RCV000165226;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945196	32945196	NM_000059.3:c.8591C>T	NP_000050.2:p.Ala2864Val	NC_000013.10:g.32945196C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8593T>G (p.Leu2865Val)	675	BRCA2	Uncertain significance	80359117	RCV000045568; RCV000031754;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945198	32945198	NM_000059.3:c.8593T>G	NP_000050.2:p.Leu2865Val	NC_000013.10:g.32945198T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8594T>A (p.Leu2865Ter)	675	BRCA2	Pathogenic	80359118	RCV000045569; RCV000113968;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945199	32945199	NM_000059.3:c.8594T>A	NP_000050.2:p.Leu2865Ter	NC_000013.10:g.32945199T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8599A>C (p.Thr2867Pro)	675	BRCA2	Uncertain significance	80359119	RCV000045571; RCV000083148;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945204	32945204	NM_000059.3:c.8599A>C	NP_000050.2:p.Thr2867Pro	NC_000013.10:g.32945204A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8601dupT (p.Lys2868Terfs)	675	BRCA2	not provided	397507995	RCV000045572;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945206	32945206	NM_000059.3:c.8601dupT	NP_000050.2:p.Lys2868Terfs	NC_000013.10:g.32945206dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8618T>G (p.Phe2873Cys)	675	BRCA2	Uncertain significance	80359120	RCV000045573; RCV000113969;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945223	32945223	NM_000059.3:c.8618T>G	NP_000050.2:p.Phe2873Cys	NC_000013.10:g.32945223T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8620G>T (p.Glu2874Ter)	675	BRCA2	not provided	397507996	RCV000045574;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945225	32945225	NM_000059.3:c.8620G>T	NP_000050.2:p.Glu2874Ter	NC_000013.10:g.32945225G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8629G>T (p.Glu2877Ter)	675	BRCA2	Pathogenic	80359121	RCV000045575; RCV000113970; RCV000218194;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32945234	32945234	NM_000059.3:c.8629G>T	NP_000050.2:p.Glu2877Ter	NC_000013.10:g.32945234G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8632+1G>A	675	BRCA2	not provided	397507997	RCV000045577;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945238	32945238	NM_000059.3:c.8632+1G>A		NC_000013.10:g.32945238G>A,NC_000013.10:g.32945238G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8632+2T>G	675	BRCA2	not provided	397507998	RCV000045579;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32945239	32945239	NM_000059.3:c.8632+2T>G		NC_000013.10:g.32945239T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8632+24A>G	675	BRCA2	Uncertain significance	81002851	RCV000045578; RCV000113972;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945261	32945261	NM_000059.3:c.8632+24A>G		NC_000013.10:g.32945261A>G	Breast Cancer Information Core (BRCA2):8860+24&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8632+135G>A	675	BRCA2	Uncertain significance	276174908	RCV000045576; RCV000113971;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32945372	32945372	NM_000059.3:c.8632+135G>A		NC_000013.10:g.32945372G>A	Breast Cancer Information Core (BRCA2):8860+135&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8633-26A>G	675	BRCA2	Benign;Uncertain significance	56268579	RCV000045582; RCV000113976;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950781	32950781	NM_000059.3:c.8633-26A>G		NC_000013.10:g.32950781A>G	Breast Cancer Information Core (BRCA2):8861-26&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8633-16C>G	675	BRCA2	Benign;Likely benign;Uncertain significance	81002818	RCV000045581; RCV000113974; RCV000212280;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32950791	32950791	NM_000059.3:c.8633-16C>G		NC_000013.10:g.32950791C>G	Breast Cancer Information Core (BRCA2):8861-16&base_change=C to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.8633-2A>G	675	BRCA2	Pathogenic	81002886	RCV000045583; RCV000031755;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950805	32950805	NM_000059.3:c.8633-2A>G		NC_000013.10:g.32950805A>G,NC_000013.10:g.32950805A>T	Breast Cancer Information Core (BRCA2):8861-2&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8633-2A>T	675	BRCA2	not provided	81002886	RCV000045584;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950805	32950805	NM_000059.3:c.8633-2A>T		NC_000013.10:g.32950805A>G,NC_000013.10:g.32950805A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8633_8754del122 (p.Glu2878Glyfs)	675	BRCA2	Pathogenic	-1	RCV000045585; RCV000113977;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950807	32950928	NM_000059.3:c.8633_8754del122	NP_000050.2:p.Glu2878Glyfs		Breast Cancer Information Core (BRCA2):8861&base_change=del 122	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8636dupA (p.Asn2879Lysfs)	675	BRCA2	Pathogenic	80359723	RCV000045586; RCV000113978;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950810	32950810	NM_000059.3:c.8636dupA	NP_000050.2:p.Asn2879Lysfs	NC_000013.10:g.32950810dupA	Breast Cancer Information Core (BRCA2):8864&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8642_8643insTT (p.Lys2882Terfs)	675	BRCA2	not provided	397507999	RCV000045587;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950816	32950817	NM_000059.3:c.8642_8643insTT	NP_000050.2:p.Lys2882Terfs	NC_000013.10:g.32950816_32950817insTT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8644A>T (p.Lys2882Ter)	675	BRCA2	not provided	397508000	RCV000045588;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950818	32950818	NM_000059.3:c.8644A>T	NP_000050.2:p.Lys2882Ter	NC_000013.10:g.32950818A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8646_8649delACCA (p.Lys2882Asnfs)	675	BRCA2	not provided	397508001	RCV000045589;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950820	32950823	NM_000059.3:c.8646_8649delACCA	NP_000050.2:p.Lys2882Asnfs	NC_000013.10:g.32950820_32950823delACCA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8647C>T (p.Pro2883Ser)	675	BRCA2	Uncertain significance	80359122	RCV000045590; RCV000031758;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950821	32950821	NM_000059.3:c.8647C>T	NP_000050.2:p.Pro2883Ser	NC_000013.10:g.32950821C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8647delC (p.Pro2883Hisfs)	675	BRCA2	Pathogenic	276174910	RCV000045591; RCV000113980;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950821	32950821	NM_000059.3:c.8647delC	NP_000050.2:p.Pro2883Hisfs	NC_000013.10:g.32950821delC	Breast Cancer Information Core (BRCA2):8875&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8663G>A (p.Arg2888His)	675	BRCA2	Uncertain significance	80359124	RCV000045593; RCV000113981; RCV000215217; RCV000212281;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32950837	32950837	NM_000059.3:c.8663G>A	NP_000050.2:p.Arg2888His	NC_000013.10:g.32950837G>A,NC_000013.10:g.32950837G>C,NC_000013.10:g.32950837G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8663G>C (p.Arg2888Pro)	675	BRCA2	Uncertain significance	80359124	RCV000045594; RCV000113982;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950837	32950837	NM_000059.3:c.8663G>C	NP_000050.2:p.Arg2888Pro	NC_000013.10:g.32950837G>A,NC_000013.10:g.32950837G>C,NC_000013.10:g.32950837G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8663G>T (p.Arg2888Leu)	675	BRCA2	Uncertain significance	80359124	RCV000045595; RCV000113983;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950837	32950837	NM_000059.3:c.8663G>T	NP_000050.2:p.Arg2888Leu	NC_000013.10:g.32950837G>A,NC_000013.10:g.32950837G>C,NC_000013.10:g.32950837G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8665G>T (p.Ala2889Ser)	675	BRCA2	Uncertain significance	80359126	RCV000045596; RCV000113984; RCV000216553;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32950839	32950839	NM_000059.3:c.8665G>T	NP_000050.2:p.Ala2889Ser	NC_000013.10:g.32950839G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8673_8674delAA (p.Arg2892Thrfs)	675	BRCA2	Pathogenic	80359724	RCV000045598; RCV000113985; RCV000222868;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32950847	32950848	NM_000059.3:c.8673_8674delAA	NP_000050.2:p.Arg2892Thrfs	NC_000013.10:g.32950847_32950848delAA	Breast Cancer Information Core (BRCA2):8901&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.8676delA (p.Arg2892Serfs)	675	BRCA2	Pathogenic	80359725	RCV000045599; RCV000113986;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950850	32950850	NM_000059.3:c.8676delA	NP_000050.2:p.Arg2892Serfs	NC_000013.10:g.32950850delA	Breast Cancer Information Core (BRCA2):8904&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8677C>T (p.Gln2893Ter)	675	BRCA2	Pathogenic	397507409	RCV000045600; RCV000031760;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950851	32950851	NM_000059.3:c.8677C>T	NP_000050.2:p.Gln2893Ter	NC_000013.10:g.32950851C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8680C>T (p.Gln2894Ter)	675	BRCA2	not provided	397508002	RCV000045601;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950854	32950854	NM_000059.3:c.8680C>T	NP_000050.2:p.Gln2894Ter	NC_000013.10:g.32950854C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8695C>T (p.Gln2899Ter)	675	BRCA2	Pathogenic	397507411	RCV000045603; RCV000031762;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950869	32950869	NM_000059.3:c.8695C>T	NP_000050.2:p.Gln2899Ter	NC_000013.10:g.32950869C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp)	675	BRCA2	Benign;Likely benign;Uncertain significance	80359129	RCV000045605; RCV000031763; RCV000195309; RCV000130464;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32950876	32950876	NM_000059.3:c.8702G>A	NP_000050.2:p.Gly2901Asp	NC_000013.10:g.32950876G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8713_8716delTATG (p.Tyr2905Lysfs)	675	BRCA2	Pathogenic	80359726	RCV000045606; RCV000113988;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950887	32950890	NM_000059.3:c.8713_8716delTATG	NP_000050.2:p.Tyr2905Lysfs	NC_000013.10:g.32950887_32950890delTATG	Breast Cancer Information Core (BRCA2):8941&base_change=del TATG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8717_8718delAA (p.Glu2906Glyfs)	675	BRCA2	not provided	397508003	RCV000045607;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950891	32950892	NM_000059.3:c.8717_8718delAA	NP_000050.2:p.Glu2906Glyfs	NC_000013.10:g.32950891_32950892delAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8730delT (p.Asn2910Lysfs)	675	BRCA2	not provided	397508004	RCV000045609;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950904	32950904	NM_000059.3:c.8730delT	NP_000050.2:p.Asn2910Lysfs	NC_000013.10:g.32950904delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8732C>T (p.Ala2911Val)	675	BRCA2	Uncertain significance	80359130	RCV000045610; RCV000113990; RCV000223485;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32950906	32950906	NM_000059.3:c.8732C>T	NP_000050.2:p.Ala2911Val	NC_000013.10:g.32950906C>A,NC_000013.10:g.32950906C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8754G>A (p.Glu2918=)	675	BRCA2	Likely pathogenic;Pathogenic	80359803	RCV000045618; RCV000077451; RCV000131042;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950928	32950928	NM_000059.3:c.8754G>A	NP_000050.2:p.Glu2918=	NC_000013.10:g.32950928G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8754+1G>A	675	BRCA2	not provided	397508006	RCV000045613;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950929	32950929	NM_000059.3:c.8754+1G>A		NC_000013.10:g.32950929G>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8754+4A>G	675	BRCA2	Pathogenic;Uncertain significance	81002893	RCV000045615; RCV000077450;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950932	32950932	NM_000059.3:c.8754+4A>G		NC_000013.10:g.32950932A>G,NC_000013.10:g.32950932A>T	Breast Cancer Information Core (BRCA2):8982+4&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8754+5G>A	675	BRCA2	Pathogenic;Uncertain significance	81002813	RCV000045616; RCV000031765;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950933	32950933	NM_000059.3:c.8754+5G>A		NC_000013.10:g.32950933G>A,NC_000013.10:g.32950933G>T	Breast Cancer Information Core (BRCA2):8982+5&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8754+5G>T	675	BRCA2	Uncertain significance	81002813	RCV000045617; RCV000113993;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32950933	32950933	NM_000059.3:c.8754+5G>T		NC_000013.10:g.32950933G>A,NC_000013.10:g.32950933G>T	Breast Cancer Information Core (BRCA2):8982+5&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8754+11A>C	675	BRCA2	not provided	397508005	RCV000045612;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32950939	32950939	NM_000059.3:c.8754+11A>C		NC_000013.10:g.32950939A>C	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8754+111C>T	675	BRCA2	Uncertain significance	276174911	RCV000045611; RCV000113992;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32951039	32951039	NM_000059.3:c.8754+111C>T		NC_000013.10:g.32951039C>T	Breast Cancer Information Core (BRCA2):8982+111&base_change=C to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8755-79G>A	675	BRCA2	Uncertain significance	81002878	RCV000045620; RCV000113995;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953375	32953375	NM_000059.3:c.8755-79G>A		NC_000013.10:g.32953375G>A	Breast Cancer Information Core (BRCA2):8983-79&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8755-1G>A	675	BRCA2	Likely pathogenic;Pathogenic	81002812	RCV000045619; RCV000031766; RCV000220836; RCV000131043;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32953453	32953453	NM_000059.3:c.8755-1G>A		NC_000013.10:g.32953453G>A	Breast Cancer Information Core (BRCA2):8983-1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8756G>T (p.Gly2919Val)	675	BRCA2	Uncertain significance	80359131	RCV000045621; RCV000113996; RCV000130693;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953455	32953455	NM_000059.3:c.8756G>T	NP_000050.2:p.Gly2919Val	NC_000013.10:g.32953455G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8756delG (p.Gly2919Valfs)	675	BRCA2	Pathogenic	80359728	RCV000045622; RCV000113997;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953455	32953455	NM_000059.3:c.8756delG	NP_000050.2:p.Gly2919Valfs	NC_000013.10:g.32953455delG	Breast Cancer Information Core (BRCA2):8984&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8773C>T (p.Gln2925Ter)	675	BRCA2	Pathogenic	80359134	RCV000045625; RCV000113998;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953472	32953472	NM_000059.3:c.8773C>T	NP_000050.2:p.Gln2925Ter	NC_000013.10:g.32953472C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8774A>G (p.Gln2925Arg)	675	BRCA2	Uncertain significance	80359135	RCV000045626; RCV000113999;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953473	32953473	NM_000059.3:c.8774A>G	NP_000050.2:p.Gln2925Arg	NC_000013.10:g.32953473A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8775G>C (p.Gln2925His)	675	BRCA2	Uncertain significance	80359136	RCV000045627; RCV000077452; RCV000223271; RCV000130540;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32953474	32953474	NM_000059.3:c.8775G>C	NP_000050.2:p.Gln2925His	NC_000013.10:g.32953474G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8789A>G (p.Asn2930Ser)	675	BRCA2	not provided	397508008	RCV000045628;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953488	32953488	NM_000059.3:c.8789A>G	NP_000050.2:p.Asn2930Ser	NC_000013.10:g.32953488A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8789delA (p.Asn2930Ilefs)	675	BRCA2	Pathogenic	80359729	RCV000045629; RCV000114000;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953488	32953488	NM_000059.3:c.8789delA	NP_000050.2:p.Asn2930Ilefs	NC_000013.10:g.32953488delA	Breast Cancer Information Core (BRCA2):9017&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8806T>A (p.Leu2936Met)	675	BRCA2	Uncertain significance	80359137	RCV000045630; RCV000114003;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953505	32953505	NM_000059.3:c.8806T>A	NP_000050.2:p.Leu2936Met	NC_000013.10:g.32953505T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8808G>C (p.Leu2936Phe)	675	BRCA2	Uncertain significance	80359138	RCV000045631; RCV000114004; RCV000130654;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953507	32953507	NM_000059.3:c.8808G>C	NP_000050.2:p.Leu2936Phe	NC_000013.10:g.32953507G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8817_8820delGAAA (p.Lys2939Asnfs)	675	BRCA2	not provided	397508010	RCV000045633;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953516	32953519	NM_000059.3:c.8817_8820delGAAA	NP_000050.2:p.Lys2939Asnfs	NC_000013.10:g.32953516_32953519delGAAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8820_8823delACAA (p.Gln2941Leufs)	675	BRCA2	not provided	397508011	RCV000045634;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953519	32953522	NM_000059.3:c.8820_8823delACAA	NP_000050.2:p.Gln2941Leufs	NC_000013.10:g.32953519_32953522delACAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8821C>T (p.Gln2941Ter)	675	BRCA2	not provided	397508012	RCV000045635;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953520	32953520	NM_000059.3:c.8821C>T	NP_000050.2:p.Gln2941Ter	NC_000013.10:g.32953520C>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8824G>A (p.Ala2942Thr)	675	BRCA2	Uncertain significance	80359139	RCV000045636; RCV000114005; RCV000129548;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953523	32953523	NM_000059.3:c.8824G>A	NP_000050.2:p.Ala2942Thr	NC_000013.10:g.32953523G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8827_8828insG (p.Gln2943Argfs)	675	BRCA2	not provided	397508013	RCV000045637;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953526	32953527	NM_000059.3:c.8827_8828insG	NP_000050.2:p.Gln2943Argfs	NC_000013.10:g.32953526_32953527insG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8842delA (p.Ile2948Leufs)	675	BRCA2	not provided	397508014	RCV000045639;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953541	32953541	NM_000059.3:c.8842delA	NP_000050.2:p.Ile2948Leufs	NC_000013.10:g.32953541delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8848_8851delAAGG (p.Lys2950Profs)	675	BRCA2	not provided	397508015	RCV000045640;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953547	32953550	NM_000059.3:c.8848_8851delAAGG	NP_000050.2:p.Lys2950Profs	NC_000013.10:g.32953547_32953550delAAGG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8848delAinsCT (p.Lys2950Leufs)	675	BRCA2	Pathogenic	276174912	RCV000045641; RCV000114006;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953547	32953547	NM_000059.3:c.8848delAinsCT	NP_000050.2:p.Lys2950Leufs	NC_000013.10:g.32953547delAinsCT	Breast Cancer Information Core (BRCA2):9076&base_change=del A ins CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn)	675	BRCA2	Benign;Likely benign;Uncertain significance	28897754	RCV000160253; RCV000114008; RCV000045642; RCV000120366; RCV000162603;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32953549	32953549	NM_000059.3:c.8850G>T	NP_000050.2:p.Lys2950Asn	NC_000013.10:g.32953549G>A,NC_000013.10:g.32953549G>T	HGMD:CM014327,Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C.:IBR-11	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.8854A>G (p.Met2952Val)	675	BRCA2	Likely benign;Uncertain significance	397508016	RCV000045644; RCV000077454; RCV000166571;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953553	32953553	NM_000059.3:c.8854A>G	NP_000050.2:p.Met2952Val	NC_000013.10:g.32953553A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8869C>T (p.Gln2957Ter)	675	BRCA2	Pathogenic	276174913	RCV000045645; RCV000031773;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953568	32953568	NM_000059.3:c.8869C>T	NP_000050.2:p.Gln2957Ter	NC_000013.10:g.32953568C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8890dupA (p.Arg2964Lysfs)	675	BRCA2	not provided	397508017	RCV000045648;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953589	32953589	NM_000059.3:c.8890dupA	NP_000050.2:p.Arg2964Lysfs	NC_000013.10:g.32953589dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8893G>C (p.Asp2965His)	675	BRCA2	Likely benign;Uncertain significance	80359141	RCV000045649; RCV000114012; RCV000129723;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953592	32953592	NM_000059.3:c.8893G>C	NP_000050.2:p.Asp2965His	NC_000013.10:g.32953592G>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8912delA (p.Lys2971Serfs)	675	BRCA2	Pathogenic	80359731	RCV000045652; RCV000114013;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953611	32953611	NM_000059.3:c.8912delA	NP_000050.2:p.Lys2971Serfs	NC_000013.10:g.32953611delA	Breast Cancer Information Core (BRCA2):9140&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8912dupA (p.Leu2972Valfs)	675	BRCA2	not provided	397508018	RCV000045653;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953611	32953611	NM_000059.3:c.8912dupA	NP_000050.2:p.Leu2972Valfs	NC_000013.10:g.32953611dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8915T>G (p.Leu2972Trp)	675	BRCA2	Uncertain significance	80359142	RCV000045654; RCV000114014; RCV000215767; RCV000212282;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32953614	32953614	NM_000059.3:c.8915T>G	NP_000050.2:p.Leu2972Trp	NC_000013.10:g.32953614T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8915delT (p.Leu2972Cysfs)	675	BRCA2	not provided	397508019	RCV000045655;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953614	32953614	NM_000059.3:c.8915delT	NP_000050.2:p.Leu2972Cysfs	NC_000013.10:g.32953614delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8917C>G (p.Arg2973Gly)	675	BRCA2	Uncertain significance	45469092	RCV000045656; RCV000114015;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953616	32953616	NM_000059.3:c.8917C>G	NP_000050.2:p.Arg2973Gly	NC_000013.10:g.32953616C>G,NC_000013.10:g.32953616C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8924delT (p.Val2975Glufs)	675	BRCA2	not provided	397508020	RCV000045659;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953623	32953623	NM_000059.3:c.8924delT	NP_000050.2:p.Val2975Glufs	NC_000013.10:g.32953623delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8933C>A (p.Ser2978Ter)	675	BRCA2	Pathogenic	80359144	RCV000045660; RCV000114016;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953632	32953632	NM_000059.3:c.8933C>A	NP_000050.2:p.Ser2978Ter	NC_000013.10:g.32953632C>A,NC_000013.10:g.32953632C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8941G>A (p.Glu2981Lys)	675	BRCA2	Uncertain significance	139052578	RCV000045661; RCV000034470; RCV000212283; RCV000130691;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374; MedGen:CN221809	13	32953640	32953640	NM_000059.3:c.8941G>A	NP_000050.2:p.Glu2981Lys	NC_000013.10:g.32953640G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.8946delA (p.Asp2983Ilefs)	675	BRCA2	not provided	397508021	RCV000045663;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953645	32953645	NM_000059.3:c.8946delA	NP_000050.2:p.Asp2983Ilefs	NC_000013.10:g.32953645delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8950delT (p.Ser2984Glnfs)	675	BRCA2	not provided	397508022	RCV000045664;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953649	32953649	NM_000059.3:c.8950delT	NP_000050.2:p.Ser2984Glnfs	NC_000013.10:g.32953649delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8951C>G (p.Ser2984Ter)	675	BRCA2	Pathogenic	80359146	RCV000045665; RCV000114019;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953650	32953650	NM_000059.3:c.8951C>G	NP_000050.2:p.Ser2984Ter	NC_000013.10:g.32953650C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8953+1G>T	675	BRCA2	Pathogenic	81002882	RCV000074557; RCV000031781; RCV000213611; RCV000131051;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32953653	32953653	NM_000059.3:c.8953+1G>T		NC_000013.10:g.32953653G>A,NC_000013.10:g.32953653G>T	Breast Cancer Information Core (BRCA2):9181+1&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.8953+1G>A	675	BRCA2	not provided	81002882	RCV000045667;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953653	32953653	NM_000059.3:c.8953+1G>A		NC_000013.10:g.32953653G>A,NC_000013.10:g.32953653G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8953+1delG	675	BRCA2	Pathogenic	730881617	RCV000160310;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953653	32953653	NM_000059.3:c.8953+1delG		NC_000013.10:g.32953653delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8953+5G>T	675	BRCA2	not provided	397508023	RCV000045669;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953657	32953657	NM_000059.3:c.8953+5G>T		NC_000013.10:g.32953657G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8954-3C>G	675	BRCA2	Pathogenic	81002844	RCV000045671; RCV000114023;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953884	32953884	NM_000059.3:c.8954-3C>G		NC_000013.10:g.32953884C>G	Breast Cancer Information Core (BRCA2):9182-3&base_change=C to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8956dupA (p.Ile2986Asnfs)	675	BRCA2	not provided	397508024	RCV000045672;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953889	32953889	NM_000059.3:c.8956dupA	NP_000050.2:p.Ile2986Asnfs	NC_000013.10:g.32953889dupA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8961_8964delGAGT (p.Ser2988Phefs)	675	BRCA2	Pathogenic	80359734	RCV000045673; RCV000077457; RCV000220005; RCV000215485;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	13	32953894	32953897	NM_000059.3:c.8961_8964delGAGT	NP_000050.2:p.Ser2988Phefs	NC_000013.10:g.32953894_32953897delGAGT	Breast Cancer Information Core (BRCA2):9189&base_change=del GAGT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.8962A>G (p.Ser2988Gly)	675	BRCA2	Uncertain significance	80359147	RCV000045674; RCV000114024;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953895	32953895	NM_000059.3:c.8962A>G	NP_000050.2:p.Ser2988Gly	NC_000013.10:g.32953895A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8978C>A (p.Ser2993Ter)	675	BRCA2	not provided	397508025	RCV000045677;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953911	32953911	NM_000059.3:c.8978C>A	NP_000050.2:p.Ser2993Ter	NC_000013.10:g.32953911C>A,NC_000013.10:g.32953911C>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8978_8991delCATCAGATTTATAT (p.Ser2993Phefs)	675	BRCA2	not provided	397508026	RCV000045678;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953911	32953924	NM_000059.3:c.8978_8991delCATCAGATTTATAT	NP_000050.2:p.Ser2993Phefs	NC_000013.10:g.32953911_32953924delCATCAGATTTATAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8980_8983delTCAG (p.Ser2994Ilefs)	675	BRCA2	Pathogenic	80359737	RCV000045680; RCV000114027;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953913	32953916	NM_000059.3:c.8980_8983delTCAG	NP_000050.2:p.Ser2994Ilefs	NC_000013.10:g.32953913_32953916delTCAG	Breast Cancer Information Core (BRCA2):9208&base_change=del TCAG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8991T>G (p.Tyr2997Ter)	675	BRCA2	not provided	397508028	RCV000045682;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953924	32953924	NM_000059.3:c.8991T>G	NP_000050.2:p.Tyr2997Ter	NC_000013.10:g.32953924T>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.8999T>A (p.Leu3000Ter)	675	BRCA2	Pathogenic	80359151	RCV000045684; RCV000114029;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953932	32953932	NM_000059.3:c.8999T>A	NP_000050.2:p.Leu3000Ter	NC_000013.10:g.32953932T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9007G>T (p.Gly3003Ter)	675	BRCA2	not provided	397508029	RCV000045687;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953940	32953940	NM_000059.3:c.9007G>T	NP_000050.2:p.Gly3003Ter	NC_000013.10:g.32953940G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9016_9017delTA (p.Tyr3006Glnfs)	675	BRCA2	Pathogenic	80359739	RCV000045688; RCV000083152;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953949	32953950	NM_000059.3:c.9016_9017delTA	NP_000050.2:p.Tyr3006Glnfs	NC_000013.10:g.32953949_32953950delTA	Breast Cancer Information Core (BRCA2):9243&base_change=del AT,Breast Cancer Information Core (BRCA2):9244&base_change=del TA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9018C>A (p.Tyr3006Ter)	675	BRCA2	Pathogenic	80359154	RCV000045689; RCV000114031; RCV000131053;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953951	32953951	NM_000059.3:c.9018C>A	NP_000050.2:p.Tyr3006Ter	NC_000013.10:g.32953951C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9018_9019insTCTA (p.Arg3007Serfs)	675	BRCA2	not provided	397508030	RCV000045690;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953951	32953952	NM_000059.3:c.9018_9019insTCTA	NP_000050.2:p.Arg3007Serfs	NC_000013.10:g.32953951_32953952insTCTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9026_9030delATCAT (p.Tyr3009Serfs)	675	BRCA2	Pathogenic	80359741	RCV000045692; RCV000031787; RCV000214145;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32953959	32953963	NM_000059.3:c.9026_9030delATCAT	NP_000050.2:p.Tyr3009Serfs	NC_000013.10:g.32953959_32953963delATCAT	Breast Cancer Information Core (BRCA2):9254&base_change=del ATCAT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9027delT (p.His3010Ilefs)	675	BRCA2	Pathogenic	80359742	RCV000045693; RCV000114033;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953960	32953960	NM_000059.3:c.9027delT	NP_000050.2:p.His3010Ilefs	NC_000013.10:g.32953960delT	Breast Cancer Information Core (BRCA2):9255&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9032T>C (p.Leu3011Pro)	675	BRCA2	Likely benign;Uncertain significance	80359155	RCV000045694; RCV000077458; RCV000212284; RCV000130329;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32953965	32953965	NM_000059.3:c.9032T>C	NP_000050.2:p.Leu3011Pro	NC_000013.10:g.32953965T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile)	675	BRCA2	Benign;Likely benign	28897755	RCV000157752; RCV000031788; RCV000045695; RCV000034471; RCV000168611; RCV000131061; RCV000148415;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221572; MedGen:CN221809	13	32953971	32953971	NM_000059.3:c.9038C>T	NP_000050.2:p.Thr3013Ile	NC_000013.10:g.32953971C>T	-	CN221572 Breast cancer; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN1
NM_000059.3(BRCA2):c.9041C>A (p.Ser3014Ter)	675	BRCA2	Pathogenic	80359156	RCV000045696; RCV000114034;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953974	32953974	NM_000059.3:c.9041C>A	NP_000050.2:p.Ser3014Ter	NC_000013.10:g.32953974C>A,NC_000013.10:g.32953974C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9054_9055delTA (p.Ser3018Argfs)	675	BRCA2	Pathogenic	80359743	RCV000045697; RCV000114036;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953987	32953988	NM_000059.3:c.9054_9055delTA	NP_000050.2:p.Ser3018Argfs	NC_000013.10:g.32953987_32953988delTA	Breast Cancer Information Core (BRCA2):9282&base_change=del TA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9057delA (p.Lys3019Asnfs)	675	BRCA2	Pathogenic	80359744	RCV000045698; RCV000114037;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953990	32953990	NM_000059.3:c.9057delA	NP_000050.2:p.Lys3019Asnfs	NC_000013.10:g.32953990delA	Breast Cancer Information Core (BRCA2):9285&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9059C>G (p.Ser3020Cys)	675	BRCA2	Uncertain significance	80359157	RCV000045699; RCV000114038;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32953992	32953992	NM_000059.3:c.9059C>G	NP_000050.2:p.Ser3020Cys	NC_000013.10:g.32953992C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9063_9078del16 (p.Glu3021Aspfs)	675	BRCA2	not provided	397508032	RCV000045701;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32953996	32954011	NM_000059.3:c.9063_9078del16	NP_000050.2:p.Glu3021Aspfs	NC_000013.10:g.32953996_32954011del16	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9069_9076delTAACATAC (p.Asn3024Valfs)	675	BRCA2	Pathogenic	80359746	RCV000045702; RCV000114040; RCV000222600;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32954002	32954009	NM_000059.3:c.9069_9076delTAACATAC	NP_000050.2:p.Asn3024Valfs	NC_000013.10:g.32954002_32954009delTAACATAC	Breast Cancer Information Core (BRCA2):9297&base_change=del TAACATAC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9074_9075delTA (p.Ile3025Thrfs)	675	BRCA2	not provided	397508034	RCV000045704;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32954007	32954008	NM_000059.3:c.9074_9075delTA	NP_000050.2:p.Ile3025Thrfs	NC_000013.10:g.32954007_32954008delTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9076C>T (p.Gln3026Ter)	675	BRCA2	Pathogenic	80359159	RCV000045706; RCV000031790; RCV000131038;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954009	32954009	NM_000059.3:c.9076C>T	NP_000050.2:p.Gln3026Ter	NC_000013.10:g.32954009C>G,NC_000013.10:g.32954009C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9076C>G (p.Gln3026Glu)	675	BRCA2	Uncertain significance	80359159	RCV000045705; RCV000114041; RCV000129636;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954009	32954009	NM_000059.3:c.9076C>G	NP_000050.2:p.Gln3026Glu	NC_000013.10:g.32954009C>G,NC_000013.10:g.32954009C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9086C>T (p.Ala3029Val)	675	BRCA2	Uncertain significance	80359162	RCV000045708; RCV000077459; RCV000129861;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954019	32954019	NM_000059.3:c.9086C>T	NP_000050.2:p.Ala3029Val	NC_000013.10:g.32954019C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9094_9097delAAAA (p.Lys3032Leufs)	675	BRCA2	not provided	397508035	RCV000045709;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32954027	32954030	NM_000059.3:c.9094_9097delAAAA	NP_000050.2:p.Lys3032Leufs	NC_000013.10:g.32954027_32954030delAAAA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9097dupA (p.Thr3033Asnfs)	675	BRCA2	Pathogenic	397507419	RCV000045711; RCV000210094; RCV000031791; RCV000195406; RCV000130439;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C2676676,OMIM:604370	13	32954030	32954030	NM_000059.3:c.9097dupA	NP_000050.2:p.Thr3033Asnfs	NC_000013.10:g.32954030dupA	-	C2676676 604370 Breast-ovarian cancer, familial 1; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9097delA (p.Thr3033Leufs)	675	BRCA2	Pathogenic	397507420	RCV000045710; RCV000031792;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954030	32954030	NM_000059.3:c.9097delA	NP_000050.2:p.Thr3033Leufs	NC_000013.10:g.32954030delA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9098_9099insA (p.Gln3034Serfs)	675	BRCA2	Pathogenic	80359747	RCV000045712; RCV000114044;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954031	32954032	NM_000059.3:c.9098_9099insA	NP_000050.2:p.Gln3034Serfs	NC_000013.10:g.32954031_32954032insA,NC_000013.10:g.32954031dupC	Breast Cancer Information Core (BRCA2):9326&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9099_9100delTC (p.Gln3034Valfs)	675	BRCA2	Pathogenic	80359748	RCV000045713; RCV000114046;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954032	32954033	NM_000059.3:c.9099_9100delTC	NP_000050.2:p.Gln3034Valfs	NC_000013.10:g.32954032_32954033delTC	Breast Cancer Information Core (BRCA2):9327&base_change=del TC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9100C>T (p.Gln3034Ter)	675	BRCA2	Pathogenic	80359163	RCV000045714; RCV000114047; RCV000220911;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32954033	32954033	NM_000059.3:c.9100C>T	NP_000050.2:p.Gln3034Ter	NC_000013.10:g.32954033C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.9100dupC (p.Gln3034Profs)	675	BRCA2	not provided	397508036	RCV000045715;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32954033	32954033	NM_000059.3:c.9100dupC	NP_000050.2:p.Gln3034Profs	NC_000013.10:g.32954033dupC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9101A>G (p.Gln3034Arg)	675	BRCA2	Uncertain significance	80359164	RCV000045716; RCV000031793; RCV000132242;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954034	32954034	NM_000059.3:c.9101A>G	NP_000050.2:p.Gln3034Arg	NC_000013.10:g.32954034A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9109C>T (p.Gln3037Ter)	675	BRCA2	Pathogenic	397508037	RCV000045719; RCV000083153;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954042	32954042	NM_000059.3:c.9109C>T	NP_000050.2:p.Gln3037Ter	NC_000013.10:g.32954042C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9116C>T (p.Pro3039Leu)	675	BRCA2	Likely benign;Uncertain significance	80359167	RCV000045720; RCV000083154; RCV000131718;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954049	32954049	NM_000059.3:c.9116C>T	NP_000050.2:p.Pro3039Leu	NC_000013.10:g.32954049C>G,NC_000013.10:g.32954049C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9117+1G>A	675	BRCA2	Pathogenic	81002802	RCV000045721; RCV000114050;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954051	32954051	NM_000059.3:c.9117+1G>A		NC_000013.10:g.32954051G>A,NC_000013.10:g.32954051G>T	Breast Cancer Information Core (BRCA2):9345+1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9117+1G>T	675	BRCA2	Pathogenic	81002802	RCV000045722; RCV000114051;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954051	32954051	NM_000059.3:c.9117+1G>T		NC_000013.10:g.32954051G>A,NC_000013.10:g.32954051G>T	Breast Cancer Information Core (BRCA2):9345+1&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9117+2T>A	675	BRCA2	not provided	397508038	RCV000045723;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32954052	32954052	NM_000059.3:c.9117+2T>A		NC_000013.10:g.32954052T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9117+9C>T	675	BRCA2	Uncertain significance	81002869	RCV000045724; RCV000114052;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954059	32954059	NM_000059.3:c.9117+9C>T		NC_000013.10:g.32954059C>T	Breast Cancer Information Core (BRCA2):9345+9&base_change=C to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9118-14T>C	675	BRCA2	Uncertain significance	81002815	RCV000045726; RCV000114053;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954130	32954130	NM_000059.3:c.9118-14T>C		NC_000013.10:g.32954130T>C	Breast Cancer Information Core (BRCA2):9346-14&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9118-6C>T	675	BRCA2	Uncertain significance	81002890	RCV000045728; RCV000031799;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954138	32954138	NM_000059.3:c.9118-6C>T		NC_000013.10:g.32954138C>T	Breast Cancer Information Core (BRCA2):9346-6&base_change=C to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9118-2A>G	675	BRCA2	Pathogenic	81002862	RCV000045727; RCV000077460; RCV000212285;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32954142	32954142	NM_000059.3:c.9118-2A>G		NC_000013.10:g.32954142A>G	Breast Cancer Information Core (BRCA2):9346-2&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.9118G>A (p.Val3040Ile)	675	BRCA2	Uncertain significance	80359168	RCV000045729; RCV000114054;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954144	32954144	NM_000059.3:c.9118G>A	NP_000050.2:p.Val3040Ile	NC_000013.10:g.32954144G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9148C>T (p.Gln3050Ter)	675	BRCA2	Pathogenic	80359170	RCV000045731; RCV000083155; RCV000221883;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32954174	32954174	NM_000059.3:c.9148C>T	NP_000050.2:p.Gln3050Ter	NC_000013.10:g.32954174C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_000059.3(BRCA2):c.9157delG (p.Glu3053Serfs)	675	BRCA2	Pathogenic	80359750	RCV000045734; RCV000114056;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954183	32954183	NM_000059.3:c.9157delG	NP_000050.2:p.Glu3053Serfs	NC_000013.10:g.32954183delG	Breast Cancer Information Core (BRCA2):9385&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9161C>A (p.Pro3054His)	675	BRCA2	Uncertain significance	80359172	RCV000045735; RCV000114057;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954187	32954187	NM_000059.3:c.9161C>A	NP_000050.2:p.Pro3054His	NC_000013.10:g.32954187C>A,NC_000013.10:g.32954187C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9177delA (p.Lys3059Asnfs)	675	BRCA2	Pathogenic	80359751	RCV000045738; RCV000114060;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954203	32954203	NM_000059.3:c.9177delA	NP_000050.2:p.Lys3059Asnfs	NC_000013.10:g.32954203delA	Breast Cancer Information Core (BRCA2):9405&base_change=del A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9182T>A (p.Leu3061Ter)	675	BRCA2	Pathogenic	80359175	RCV000045739; RCV000114061; RCV000162941;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954208	32954208	NM_000059.3:c.9182T>A	NP_000050.2:p.Leu3061Ter	NC_000013.10:g.32954208T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9187C>T (p.Pro3063Ser)	675	BRCA2	Uncertain significance	80359176	RCV000045740; RCV000114062; RCV000168613;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32954213	32954213	NM_000059.3:c.9187C>T	NP_000050.2:p.Pro3063Ser	NC_000013.10:g.32954213C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.9190G>A (p.Asp3064Asn)	675	BRCA2	Benign;Likely benign;Uncertain significance	80359177	RCV000045742; RCV000077462; RCV000130150;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954216	32954216	NM_000059.3:c.9190G>A	NP_000050.2:p.Asp3064Asn	NC_000013.10:g.32954216G>A,NC_000013.10:g.32954216G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9190G>T (p.Asp3064Tyr)	675	BRCA2	Uncertain significance	80359177	RCV000045743; RCV000114063; RCV000129844;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954216	32954216	NM_000059.3:c.9190G>T	NP_000050.2:p.Asp3064Tyr	NC_000013.10:g.32954216G>A,NC_000013.10:g.32954216G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter)	675	BRCA2	Pathogenic	80359180	RCV000045745; RCV000210196; RCV000077463; RCV000009941; RCV000131052;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1838457,OMIM:605724,ORPHA:319462; MedGen:C2675520,OMIM:612555; MedGen:C2676676,OMIM:604370	13	32954222	32954222	NM_000059.3:c.9196C>T	NP_000050.2:p.Gln3066Ter	NC_000013.10:g.32954222C>G,NC_000013.10:g.32954222C>T	OMIM Allelic Variant:600185.0032	C2676676 604370 Breast-ovarian cancer, familial 1; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C1838457 605724 Fanconi anemia, complementation group D1; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9196C>G (p.Gln3066Glu)	675	BRCA2	Uncertain significance	80359180	RCV000045744; RCV000114064;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954222	32954222	NM_000059.3:c.9196C>G	NP_000050.2:p.Gln3066Glu	NC_000013.10:g.32954222C>G,NC_000013.10:g.32954222C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9207T>A (p.Cys3069Ter)	675	BRCA2	Pathogenic	80359183	RCV000045747; RCV000114065;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954233	32954233	NM_000059.3:c.9207T>A	NP_000050.2:p.Cys3069Ter	NC_000013.10:g.32954233T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9213G>T (p.Glu3071Asp)	675	BRCA2	Uncertain significance	80359184	RCV000045748; RCV000114066;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954239	32954239	NM_000059.3:c.9213G>T	NP_000050.2:p.Glu3071Asp	NC_000013.10:g.32954239G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9215T>A (p.Val3072Glu)	675	BRCA2	Uncertain significance	80359185	RCV000045749; RCV000114067;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954241	32954241	NM_000059.3:c.9215T>A	NP_000050.2:p.Val3072Glu	NC_000013.10:g.32954241T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu)	675	BRCA2	Likely pathogenic;Uncertain significance	80359187	RCV000045751; RCV000114069; RCV000216816; RCV000221088;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	13	32954253	32954253	NM_000059.3:c.9227G>A	NP_000050.2:p.Gly3076Glu	NC_000013.10:g.32954253G>A,NC_000013.10:g.32954253G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9227delG (p.Gly3076Aspfs)	675	BRCA2	not provided	397508040	RCV000045752;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32954253	32954253	NM_000059.3:c.9227delG	NP_000050.2:p.Gly3076Aspfs	NC_000013.10:g.32954253delG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9237T>C (p.Val3079=)	675	BRCA2	Uncertain significance	80359805	RCV000045754; RCV000114071;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954263	32954263	NM_000059.3:c.9237T>C	NP_000050.2:p.Val3079=	NC_000013.10:g.32954263T>C	Breast Cancer Information Core (BRCA2):9465&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9242T>C (p.Val3081Ala)	675	BRCA2	Likely benign;Uncertain significance	80359189	RCV000045755; RCV000031805; RCV000203623; RCV000129976;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32954268	32954268	NM_000059.3:c.9242T>C	NP_000050.2:p.Val3081Ala	NC_000013.10:g.32954268T>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9247A>G (p.Lys3083Glu)	675	BRCA2	Uncertain significance	80359190	RCV000045756; RCV000031806; RCV000221707; RCV000212286;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	13	32954273	32954273	NM_000059.3:c.9247A>G	NP_000050.2:p.Lys3083Glu	NC_000013.10:g.32954273A>G,NC_000013.10:g.32954273A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9247A>T (p.Lys3083Ter)	675	BRCA2	not provided	80359190	RCV000045757;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32954273	32954273	NM_000059.3:c.9247A>T	NP_000050.2:p.Lys3083Ter	NC_000013.10:g.32954273A>G,NC_000013.10:g.32954273A>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9249A>T (p.Lys3083Asn)	675	BRCA2	Uncertain significance	80359191	RCV000045758; RCV000114073; RCV000212287; RCV000131342;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32954275	32954275	NM_000059.3:c.9249A>T	NP_000050.2:p.Lys3083Asn	NC_000013.10:g.32954275A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs)	675	BRCA2	Likely pathogenic;Pathogenic	80359752	RCV000045760; RCV000031808; RCV000195407; RCV000130780;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32954279	32954279	NM_000059.3:c.9253dupA	NP_000050.2:p.Thr3085Asnfs	NC_000013.10:g.32954279dupA	Breast Cancer Information Core (BRCA2):9481&base_change=ins A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9253delA (p.Thr3085Glnfs)	675	BRCA2	not provided	397508041	RCV000045759;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32954279	32954279	NM_000059.3:c.9253delA	NP_000050.2:p.Thr3085Glnfs	NC_000013.10:g.32954279delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9256G>T (p.Gly3086Ter)	675	BRCA2	Pathogenic	80359192	RCV000045762; RCV000114076;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954282	32954282	NM_000059.3:c.9256G>T	NP_000050.2:p.Gly3086Ter	NC_000013.10:g.32954282G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9256+1G>A	675	BRCA2	Pathogenic	81002883	RCV000045761; RCV000114075;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32954283	32954283	NM_000059.3:c.9256+1G>A		NC_000013.10:g.32954283G>A,NC_000013.10:g.32954283G>C	Breast Cancer Information Core (BRCA2):9484+1&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9257-75G>C	675	BRCA2	Uncertain significance	276174922	RCV000045768; RCV000114081;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968751	32968751	NM_000059.3:c.9257-75G>C		NC_000013.10:g.32968751G>C	Breast Cancer Information Core (BRCA2):9485-75&base_change=G to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9257-16T>C	675	BRCA2	Benign	11571818	RCV000124013; RCV000114078; RCV000045764; RCV000152886;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32968810	32968810	NM_000059.3:c.9257-16T>C		NC_000013.10:g.32968810T>C	Breast Cancer Information Core (BRCA2):9485-16&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.9257-1G>A	675	BRCA2	Likely pathogenic	81002889	RCV000045766; RCV000164703;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32968825	32968825	NM_000059.3:c.9257-1G>A		NC_000013.10:g.32968825G>A,NC_000013.10:g.32968825G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9257-1G>C	675	BRCA2	Likely pathogenic;Pathogenic	81002889	RCV000045767; RCV000083156; RCV000212288; RCV000131040;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32968825	32968825	NM_000059.3:c.9257-1G>C		NC_000013.10:g.32968825G>A,NC_000013.10:g.32968825G>C	Breast Cancer Information Core (BRCA2):9485-1&base_change=G to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.9262dupG (p.Ala3088Glyfs)	675	BRCA2	not provided	397508042	RCV000045769;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32968831	32968831	NM_000059.3:c.9262dupG	NP_000050.2:p.Ala3088Glyfs	NC_000013.10:g.32968831dupG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9263C>T (p.Ala3088Val)	675	BRCA2	Uncertain significance	80359193	RCV000045770; RCV000114083;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968832	32968832	NM_000059.3:c.9263C>T	NP_000050.2:p.Ala3088Val	NC_000013.10:g.32968832C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9269dupT (p.Val3091Argfs)	675	BRCA2	Pathogenic	80359753	RCV000045771; RCV000114084;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968838	32968838	NM_000059.3:c.9269dupT	NP_000050.2:p.Val3091Argfs	NC_000013.10:g.32968838dupT	Breast Cancer Information Core (BRCA2):9497&base_change=ins T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9271G>A (p.Val3091Ile)	675	BRCA2	Likely benign;Uncertain significance	80359194	RCV000045772; RCV000083157; RCV000167774; RCV000165867;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32968840	32968840	NM_000059.3:c.9271G>A	NP_000050.2:p.Val3091Ile	NC_000013.10:g.32968840G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys)	675	BRCA2	Likely benign;Uncertain significance	80359195	RCV000045774; RCV000077466; RCV000131684;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968844	32968844	NM_000059.3:c.9275A>G	NP_000050.2:p.Tyr3092Cys	NC_000013.10:g.32968844A>C,NC_000013.10:g.32968844A>G,NC_000013.10:g.32968844A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9275_9276delAT (p.Tyr3092Phefs)	675	BRCA2	not provided	397508043	RCV000045775;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32968844	32968845	NM_000059.3:c.9275_9276delAT	NP_000050.2:p.Tyr3092Phefs	NC_000013.10:g.32968844_32968845delAT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9276T>G (p.Tyr3092Ter)	675	BRCA2	Pathogenic	80359197	RCV000045777; RCV000114085;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968845	32968845	NM_000059.3:c.9276T>G	NP_000050.2:p.Tyr3092Ter	NC_000013.10:g.32968845T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9286G>T (p.Glu3096Ter)	675	BRCA2	Pathogenic	80359199	RCV000045780; RCV000114086;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968855	32968855	NM_000059.3:c.9286G>T	NP_000050.2:p.Glu3096Ter	NC_000013.10:g.32968855G>A,NC_000013.10:g.32968855G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9291T>A (p.Cys3097Ter)	675	BRCA2	not provided	397508044	RCV000045781;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32968860	32968860	NM_000059.3:c.9291T>A	NP_000050.2:p.Cys3097Ter	NC_000013.10:g.32968860T>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9294C>A (p.Tyr3098Ter)	675	BRCA2	Pathogenic	80359200	RCV000045783; RCV000031811;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968863	32968863	NM_000059.3:c.9294C>A	NP_000050.2:p.Tyr3098Ter	NC_000013.10:g.32968863C>A,NC_000013.10:g.32968863C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter)	675	BRCA2	Pathogenic	80359200	RCV000074562; RCV000210096; RCV000031812; RCV000045784; RCV000131041;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C2676676,OMIM:604370	13	32968863	32968863	NM_000059.3:c.9294C>G	NP_000050.2:p.Tyr3098Ter	NC_000013.10:g.32968863C>A,NC_000013.10:g.32968863C>G	-	C2676676 604370 Breast-ovarian cancer, familial 1; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9301C>G (p.Leu3101Val)	675	BRCA2	Uncertain significance	80359202	RCV000045786; RCV000114087;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968870	32968870	NM_000059.3:c.9301C>G	NP_000050.2:p.Leu3101Val	NC_000013.10:g.32968870C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9307A>G (p.Ile3103Val)	675	BRCA2	Uncertain significance	80359203	RCV000045788; RCV000077468; RCV000162720;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968876	32968876	NM_000059.3:c.9307A>G	NP_000050.2:p.Ile3103Val	NC_000013.10:g.32968876A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9309A>G (p.Ile3103Met)	675	BRCA2	Uncertain significance	80359204	RCV000045789; RCV000114088;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968878	32968878	NM_000059.3:c.9309A>G	NP_000050.2:p.Ile3103Met	NC_000013.10:g.32968878A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9310_9311delAA (p.Lys3104Valfs)	675	BRCA2	Pathogenic	80359756	RCV000045791; RCV000114089;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968879	32968880	NM_000059.3:c.9310_9311delAA	NP_000050.2:p.Lys3104Valfs	NC_000013.10:g.32968879_32968880delAA	Breast Cancer Information Core (BRCA2):9538&base_change=del AA	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9317G>A (p.Trp3106Ter)	675	BRCA2	Pathogenic	80359205	RCV000045792; RCV000114090;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968886	32968886	NM_000059.3:c.9317G>A	NP_000050.2:p.Trp3106Ter	NC_000013.10:g.32968886G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9324_9325insATTA (p.Leu3109Ilefs)	675	BRCA2	not provided	397508046	RCV000045793;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32968893	32968894	NM_000059.3:c.9324_9325insATTA	NP_000050.2:p.Leu3109Ilefs	NC_000013.10:g.32968893_32968894insATTA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9331G>T (p.Glu3111Ter)	675	BRCA2	Pathogenic	397508047	RCV000045794; RCV000212289; RCV000130826;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	13	32968900	32968900	NM_000059.3:c.9331G>T	NP_000050.2:p.Glu3111Ter	NC_000013.10:g.32968900G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.9350A>C (p.His3117Pro)	675	BRCA2	Uncertain significance	80359206	RCV000045796; RCV000114093;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968919	32968919	NM_000059.3:c.9350A>C	NP_000050.2:p.His3117Pro	NC_000013.10:g.32968919A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9353T>C (p.Met3118Thr)	675	BRCA2	Uncertain significance	56204128	RCV000045797; RCV000031815; RCV000168615; RCV000131368; RCV000148437;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221572	13	32968922	32968922	NM_000059.3:c.9353T>C	NP_000050.2:p.Met3118Thr	NC_000013.10:g.32968922T>C	-	CN221572 Breast cancer; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.9356T>G (p.Leu3119Ter)	675	BRCA2	Pathogenic	80359207	RCV000045798; RCV000114094;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968925	32968925	NM_000059.3:c.9356T>G	NP_000050.2:p.Leu3119Ter	NC_000013.10:g.32968925T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9356_9357delTAinsG (p.Leu3119Terfs)	675	BRCA2	not provided	397508048	RCV000045799;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32968925	32968926	NM_000059.3:c.9356_9357delTAinsG	NP_000050.2:p.Leu3119Terfs	NC_000013.10:g.32968925_32968926delTAinsG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9360delT (p.Ile3120Metfs)	675	BRCA2	Pathogenic	80359757	RCV000045800; RCV000114095;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968929	32968929	NM_000059.3:c.9360delT	NP_000050.2:p.Ile3120Metfs	NC_000013.10:g.32968929delT	Breast Cancer Information Core (BRCA2):9588&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9367A>G (p.Ser3123Gly)	675	BRCA2	Uncertain significance	80359208	RCV000045801; RCV000114097; RCV000212290; RCV000165396;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32968936	32968936	NM_000059.3:c.9367A>G	NP_000050.2:p.Ser3123Gly	NC_000013.10:g.32968936A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile)	675	BRCA2	Likely pathogenic;Pathogenic;Uncertain significance	28897759	RCV000045802; RCV000031816; RCV000176516; RCV000130337;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32968940	32968940	NM_000059.3:c.9371A>T	NP_000050.2:p.Asn3124Ile	NC_000013.10:g.32968940A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.9374T>A (p.Leu3125His)	675	BRCA2	Uncertain significance	80359209	RCV000045803; RCV000114098;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968943	32968943	NM_000059.3:c.9374T>A	NP_000050.2:p.Leu3125His	NC_000013.10:g.32968943T>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9375C>G (p.Leu3125=)	675	BRCA2	Uncertain significance	276174924	RCV000045804; RCV000114099;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968944	32968944	NM_000059.3:c.9375C>G	NP_000050.2:p.Leu3125=	NC_000013.10:g.32968944C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9380G>A (p.Trp3127Ter)	675	BRCA2	Pathogenic	80359211	RCV000045806; RCV000031818; RCV000131047;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968949	32968949	NM_000059.3:c.9380G>A	NP_000050.2:p.Trp3127Ter	NC_000013.10:g.32968949G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9385C>G (p.Pro3129Ala)	675	BRCA2	Uncertain significance	80359213	RCV000045808; RCV000114102;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968954	32968954	NM_000059.3:c.9385C>G	NP_000050.2:p.Pro3129Ala	NC_000013.10:g.32968954C>G,NC_000013.10:g.32968954C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9393delC (p.Lys3132Asnfs)	675	BRCA2	not provided	397508049	RCV000045809;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32968962	32968962	NM_000059.3:c.9393delC	NP_000050.2:p.Lys3132Asnfs	NC_000013.10:g.32968962delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9401delG (p.Gly3134Alafs)	675	BRCA2	Pathogenic	80359759	RCV000045812; RCV000031822;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968970	32968970	NM_000059.3:c.9401delG	NP_000050.2:p.Gly3134Alafs	NC_000013.10:g.32968970delG	Breast Cancer Information Core (BRCA2):9629&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9403delC (p.Leu3135Phefs)	675	BRCA2	Pathogenic	80359760	RCV000045813; RCV000077470; RCV000164828;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968972	32968972	NM_000059.3:c.9403delC	NP_000050.2:p.Leu3135Phefs	NC_000013.10:g.32968972delC	Breast Cancer Information Core (BRCA2):9631&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9408delT (p.Thr3137Leufs)	675	BRCA2	Pathogenic	80359761	RCV000045814; RCV000114105;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968977	32968977	NM_000059.3:c.9408delT	NP_000050.2:p.Thr3137Leufs	NC_000013.10:g.32968977delT	Breast Cancer Information Core (BRCA2):9636&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9414A>G (p.Leu3138=)	675	BRCA2	Likely benign;Uncertain significance	80359807	RCV000045815; RCV000114106; RCV000215620;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32968983	32968983	NM_000059.3:c.9414A>G	NP_000050.2:p.Leu3138=	NC_000013.10:g.32968983A>G	Breast Cancer Information Core (BRCA2):9642&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9425A>G (p.Asp3142Gly)	675	BRCA2	Uncertain significance	80359216	RCV000045816; RCV000083159; RCV000213617;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32968994	32968994	NM_000059.3:c.9425A>G	NP_000050.2:p.Asp3142Gly	NC_000013.10:g.32968994A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.9426_9427delTT (p.Ser3144Cysfs)	675	BRCA2	Pathogenic	80359762	RCV000045817; RCV000114107;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32968995	32968996	NM_000059.3:c.9426_9427delTT	NP_000050.2:p.Ser3144Cysfs	NC_000013.10:g.32968995_32968996delTT	Breast Cancer Information Core (BRCA2):9654&base_change=del TT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9430delT (p.Ser3144Leufs)	675	BRCA2	not provided	397508050	RCV000045818;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32968999	32968999	NM_000059.3:c.9430delT	NP_000050.2:p.Ser3144Leufs	NC_000013.10:g.32968999delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9431delC (p.Ser3144Leufs)	675	BRCA2	not provided	397508051	RCV000045819;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32969000	32969000	NM_000059.3:c.9431delC	NP_000050.2:p.Ser3144Leufs	NC_000013.10:g.32969000delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9435_9436delGT (p.Ser3147Cysfs)	675	BRCA2	Pathogenic	80359763	RCV000074563; RCV000210147; RCV000031823; RCV000205868; RCV000131046;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:C2676676,OMIM:604370	13	32969004	32969005	NM_000059.3:c.9435_9436delGT	NP_000050.2:p.Ser3147Cysfs	NC_000013.10:g.32969004_32969005delGT	Breast Cancer Information Core (BRCA2):9663&base_change=del GT	C2676676 604370 Breast-ovarian cancer, familial 1; C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9454G>A (p.Glu3152Lys)	675	BRCA2	Likely benign;Uncertain significance	80359218	RCV000045822; RCV000077471; RCV000167823; RCV000165404;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32969023	32969023	NM_000059.3:c.9454G>A	NP_000050.2:p.Glu3152Lys	NC_000013.10:g.32969023G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9455A>G (p.Glu3152Gly)	675	BRCA2	Uncertain significance	80359219	RCV000045823; RCV000114109; RCV000214951;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32969024	32969024	NM_000059.3:c.9455A>G	NP_000050.2:p.Glu3152Gly	NC_000013.10:g.32969024A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9455_9456delAG (p.Glu3152Glyfs)	675	BRCA2	Pathogenic	80359764	RCV000045824; RCV000083160;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32969024	32969025	NM_000059.3:c.9455_9456delAG	NP_000050.2:p.Glu3152Glyfs	NC_000013.10:g.32969024_32969025delAG	Breast Cancer Information Core (BRCA2):9683&base_change=del AG	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9458delG (p.Gly3153Alafs)	675	BRCA2	Pathogenic	397508052	RCV000045826; RCV000218767;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32969027	32969027	NM_000059.3:c.9458delG	NP_000050.2:p.Gly3153Alafs	NC_000013.10:g.32969027delG	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9463_9467delTTTCAinsGAATGATC (p.Phe3155_Ile3418delinsGlu)	675	BRCA2	not provided	397508053	RCV000045827;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32969032	32969036	NM_000059.3:c.9463_9467delTTTCAinsGAATGATC	NP_000050.2:p.Phe3155_Ile3418delinsGlu	NC_000013.10:g.32969032_32969036delTTTCAinsGAATGATC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9466C>T (p.Gln3156Ter)	675	BRCA2	Uncertain significance	276174925	RCV000045828; RCV000114113;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32969035	32969035	NM_000059.3:c.9466C>T	NP_000050.2:p.Gln3156Ter	NC_000013.10:g.32969035C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9466delC (p.Gln3156Lysfs)	675	BRCA2	Pathogenic	80359766	RCV000045829; RCV000114114;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32969035	32969035	NM_000059.3:c.9466delC	NP_000050.2:p.Gln3156Lysfs	NC_000013.10:g.32969035delC	Breast Cancer Information Core (BRCA2):9694&base_change=del C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9474delA (p.Phe3159Serfs)	675	BRCA2	not provided	397508054	RCV000045830;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32969043	32969043	NM_000059.3:c.9474delA	NP_000050.2:p.Phe3159Serfs	NC_000013.10:g.32969043delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9477C>A (p.Phe3159Leu)	675	BRCA2	Uncertain significance	80359221	RCV000045831; RCV000114116; RCV000221995;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32969046	32969046	NM_000059.3:c.9477C>A	NP_000050.2:p.Phe3159Leu	NC_000013.10:g.32969046C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9481A>T (p.Lys3161Ter)	675	BRCA2	Pathogenic	80359222	RCV000045832; RCV000114117;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32969050	32969050	NM_000059.3:c.9481A>T	NP_000050.2:p.Lys3161Ter	NC_000013.10:g.32969050A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9498delT (p.Glu3167Argfs)	675	BRCA2	not provided	397508055	RCV000045833;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32969067	32969067	NM_000059.3:c.9498delT	NP_000050.2:p.Glu3167Argfs	NC_000013.10:g.32969067delT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9498dupT (p.Glu3167Terfs)	675	BRCA2	not provided	397508056	RCV000045834;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32969067	32969067	NM_000059.3:c.9498dupT	NP_000050.2:p.Glu3167Terfs	NC_000013.10:g.32969067dupT	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9500A>C (p.Glu3167Ala)	675	BRCA2	Uncertain significance	80359223	RCV000045836; RCV000114120;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32969069	32969069	NM_000059.3:c.9500A>C	NP_000050.2:p.Glu3167Ala	NC_000013.10:g.32969069A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9501G>A (p.Glu3167=)	675	BRCA2	Pathogenic	80359808	RCV000045841; RCV000114122;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32969070	32969070	NM_000059.3:c.9501G>A	NP_000050.2:p.Glu3167=	NC_000013.10:g.32969070G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9501+1G>A	675	BRCA2	not provided	397508058	RCV000045837;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32969071	32969071	NM_000059.3:c.9501+1G>A		NC_000013.10:g.32969071G>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9502-71G>T	675	BRCA2	Uncertain significance	81002856	RCV000045845; RCV000114125;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32970964	32970964	NM_000059.3:c.9502-71G>T		NC_000013.10:g.32970964G>T	Breast Cancer Information Core (BRCA2):9730-71&base_change=G to T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9502-28A>G	675	BRCA2	not provided	397508059	RCV000045843;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32971007	32971007	NM_000059.3:c.9502-28A>G		NC_000013.10:g.32971007A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9502-2A>C	675	BRCA2	Likely pathogenic;Pathogenic	81002868	RCV000045844; RCV000114124; RCV000131049;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971033	32971033	NM_000059.3:c.9502-2A>C		NC_000013.10:g.32971033A>C	Breast Cancer Information Core (BRCA2):9730-2&base_change=A to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9507delT (p.Ile3169Metfs)	675	BRCA2	Pathogenic	80359767	RCV000045846; RCV000114126;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971040	32971040	NM_000059.3:c.9507delT	NP_000050.2:p.Ile3169Metfs	NC_000013.10:g.32971040delT	Breast Cancer Information Core (BRCA2):9735&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9509A>G (p.Asp3170Gly)	675	BRCA2	Benign	80359224	RCV000045847; RCV000114127; RCV000163018;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971042	32971042	NM_000059.3:c.9509A>G	NP_000050.2:p.Asp3170Gly	NC_000013.10:g.32971042A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9513_9516delACTT (p.Leu3172Alafs)	675	BRCA2	Pathogenic	80359769	RCV000045848; RCV000114129;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971046	32971049	NM_000059.3:c.9513_9516delACTT	NP_000050.2:p.Leu3172Alafs	NC_000013.10:g.32971046_32971049delACTT	Breast Cancer Information Core (BRCA2):9741&base_change=del ACTT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9537dupG (p.Leu3180Alafs)	675	BRCA2	not provided	397508061	RCV000045850;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32971070	32971070	NM_000059.3:c.9537dupG	NP_000050.2:p.Leu3180Alafs	NC_000013.10:g.32971070dupG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9538C>T (p.Leu3180Phe)	675	BRCA2	Uncertain significance	200598289	RCV000045851; RCV000077472; RCV000165783;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971071	32971071	NM_000059.3:c.9538C>T	NP_000050.2:p.Leu3180Phe	NC_000013.10:g.32971071C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9541_9554delATGCATATACTGCA (p.Met3181Cysfs)	675	BRCA2	Pathogenic	397508062	RCV000045852; RCV000077473;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971074	32971087	NM_000059.3:c.9541_9554delATGCATATACTGCA	NP_000050.2:p.Met3181Cysfs	NC_000013.10:g.32971074_32971087delATGCATATACTGCA	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9562G>A (p.Asp3188Asn)	675	BRCA2	Uncertain significance	80359226	RCV000045854; RCV000114132;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971095	32971095	NM_000059.3:c.9562G>A	NP_000050.2:p.Asp3188Asn	NC_000013.10:g.32971095G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9572G>A (p.Trp3191Ter)	675	BRCA2	not provided	397508063	RCV000045858;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32971105	32971105	NM_000059.3:c.9572G>A	NP_000050.2:p.Trp3191Ter	NC_000013.10:g.32971105G>A,NC_000013.10:g.32971105G>T	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9580_9581delCC (p.Pro3194Asnfs)	675	BRCA2	Pathogenic	80359771	RCV000045859; RCV000031832;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971113	32971114	NM_000059.3:c.9580_9581delCC	NP_000050.2:p.Pro3194Asnfs	NC_000013.10:g.32971113_32971114delCC	Breast Cancer Information Core (BRCA2):9808&base_change=del CC	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala)	675	BRCA2	Likely benign;Uncertain significance	80359227	RCV000045861; RCV000083162; RCV000129471;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971116	32971116	NM_000059.3:c.9583A>G	NP_000050.2:p.Thr3195Ala	NC_000013.10:g.32971116A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9599C>G (p.Ser3200Ter)	675	BRCA2	Pathogenic	80359230	RCV000045864; RCV000031836;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971132	32971132	NM_000059.3:c.9599C>G	NP_000050.2:p.Ser3200Ter	NC_000013.10:g.32971132C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9610A>G (p.Thr3204Ala)	675	BRCA2	Uncertain significance	80359231	RCV000045865; RCV000114133; RCV000213913;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32971143	32971143	NM_000059.3:c.9610A>G	NP_000050.2:p.Thr3204Ala	NC_000013.10:g.32971143A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9611C>G (p.Thr3204Ser)	675	BRCA2	Uncertain significance	80359232	RCV000045866; RCV000114134;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971144	32971144	NM_000059.3:c.9611C>G	NP_000050.2:p.Thr3204Ser	NC_000013.10:g.32971144C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9613_9614delGCinsCT (p.Ala3205Leu)	675	BRCA2	Uncertain significance	276174926	RCV000160311; RCV000114136; RCV000045867; RCV000120371; RCV000129271;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32971146	32971147	NM_000059.3:c.9613_9614delGCinsCT	NP_000050.2:p.Ala3205Leu	NC_000013.10:g.32971146_32971147delGCinsCT	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.9613G>A (p.Ala3205Thr)	675	BRCA2	Uncertain significance	528504546	RCV000160174;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32971146	32971146	NM_000059.3:c.9613G>A	NP_000050.2:p.Ala3205Thr	NC_000013.10:g.32971146G>A	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9637A>G (p.Asn3213Asp)	675	BRCA2	Uncertain significance	80359235	RCV000045871; RCV000114138; RCV000129983;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971170	32971170	NM_000059.3:c.9637A>G	NP_000050.2:p.Asn3213Asp	NC_000013.10:g.32971170A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9646C>T (p.Leu3216=)	675	BRCA2	Uncertain significance	80359809	RCV000045872; RCV000114139;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971179	32971179	NM_000059.3:c.9646C>T	NP_000050.2:p.Leu3216=	NC_000013.10:g.32971179C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9648+54G>A	675	BRCA2	Uncertain significance	11571823	RCV000045875; RCV000114142;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32971235	32971235	NM_000059.3:c.9648+54G>A		NC_000013.10:g.32971235G>A	Breast Cancer Information Core (BRCA2):9876+54&base_change=G to A	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9648+106delT	675	BRCA2	Benign	11571824	RCV000045873; RCV000114140; RCV000205892;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32971287	32971287	NM_000059.3:c.9648+106delT		NC_000013.10:g.32971287delT	Breast Cancer Information Core (BRCA2):9876+106&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome
NM_000059.3(BRCA2):c.9649-8T>C	675	BRCA2	Uncertain significance	81002857	RCV000045880; RCV000114148;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972291	32972291	NM_000059.3:c.9649-8T>C		NC_000013.10:g.32972291T>C	Breast Cancer Information Core (BRCA2):9877-8&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9649-2A>G	675	BRCA2	Pathogenic	81002895	RCV000045879; RCV000114145;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972297	32972297	NM_000059.3:c.9649-2A>G		NC_000013.10:g.32972297A>G	Breast Cancer Information Core (BRCA2):9877-2&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9658C>T (p.Pro3220Ser)	675	BRCA2	Uncertain significance	80359236	RCV000045882; RCV000114149;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972308	32972308	NM_000059.3:c.9658C>T	NP_000050.2:p.Pro3220Ser	NC_000013.10:g.32972308C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9666delT (p.Cys3222Trpfs)	675	BRCA2	Pathogenic	80359772	RCV000045883; RCV000114150; RCV000130019;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972316	32972316	NM_000059.3:c.9666delT	NP_000050.2:p.Cys3222Trpfs	NC_000013.10:g.32972316delT	Breast Cancer Information Core (BRCA2):9894&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9676delT (p.Tyr3226Ilefs)	675	BRCA2	Pathogenic	80359774	RCV000045884; RCV000114152;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972326	32972326	NM_000059.3:c.9676delT	NP_000050.2:p.Tyr3226Ilefs	NC_000013.10:g.32972326delT	Breast Cancer Information Core (BRCA2):9904&base_change=del T	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9677A>G (p.Tyr3226Cys)	675	BRCA2	Uncertain significance	80359237	RCV000045885; RCV000114153; RCV000165822;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972327	32972327	NM_000059.3:c.9677A>G	NP_000050.2:p.Tyr3226Cys	NC_000013.10:g.32972327A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9690A>T (p.Leu3230Phe)	675	BRCA2	Uncertain significance	80359238	RCV000045886; RCV000114154; RCV000131275;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972340	32972340	NM_000059.3:c.9690A>T	NP_000050.2:p.Leu3230Phe	NC_000013.10:g.32972340A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9705_9706insG (p.Lys3236Glufs)	675	BRCA2	not provided	397508064	RCV000045888;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32972355	32972356	NM_000059.3:c.9705_9706insG	NP_000050.2:p.Lys3236Glufs	NC_000013.10:g.32972355_32972356insG	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9706A>G (p.Lys3236Glu)	675	BRCA2	Uncertain significance	80359239	RCV000045889; RCV000114155;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972356	32972356	NM_000059.3:c.9706A>G	NP_000050.2:p.Lys3236Glu	NC_000013.10:g.32972356A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9718G>A (p.Val3240Ile)	675	BRCA2	Uncertain significance	80359240	RCV000045890; RCV000114156; RCV000165570;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972368	32972368	NM_000059.3:c.9718G>A	NP_000050.2:p.Val3240Ile	NC_000013.10:g.32972368G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9728delC (p.Pro3243Leufs)	675	BRCA2	Pathogenic	730881618	RCV000160312;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32972378	32972378	NM_000059.3:c.9728delC	NP_000050.2:p.Pro3243Leufs	NC_000013.10:g.32972378delC	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile)	675	BRCA2	Benign	11571831	RCV000045893; RCV000114158; RCV000167853; RCV000034473; RCV000120377; RCV000128917;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32972380	32972380	NM_000059.3:c.9730G>A	NP_000050.2:p.Val3244Ile	NC_000013.10:g.32972380G>A,NC_000013.10:g.32972380G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.9738C>T (p.Ala3246=)	675	BRCA2	Benign;Likely benign;Uncertain significance	80359811	RCV000045894; RCV000114161; RCV000212291; RCV000162800;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32972388	32972388	NM_000059.3:c.9738C>T	NP_000050.2:p.Ala3246=	NC_000013.10:g.32972388C>A,NC_000013.10:g.32972388C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.9806G>A (p.Arg3269Lys)	675	BRCA2	Uncertain significance	80359243	RCV000045899; RCV000112811;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972456	32972456	NM_000059.3:c.9806G>A	NP_000050.2:p.Arg3269Lys	NC_000013.10:g.32972456G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9816T>G (p.Asp3272Glu)	675	BRCA2	Uncertain significance	56111359	RCV000045900; RCV000112813;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972466	32972466	NM_000059.3:c.9816T>G	NP_000050.2:p.Asp3272Glu	NC_000013.10:g.32972466T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9820T>G (p.Leu3274Val)	675	BRCA2	Uncertain significance	80359244	RCV000045901; RCV000112814; RCV000222518;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32972470	32972470	NM_000059.3:c.9820T>G	NP_000050.2:p.Leu3274Val	NC_000013.10:g.32972470T>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9828A>T (p.Arg3276Ser)	675	BRCA2	Uncertain significance	80359245	RCV000045902; RCV000112815;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972478	32972478	NM_000059.3:c.9828A>T	NP_000050.2:p.Arg3276Ser	NC_000013.10:g.32972478A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9839C>A (p.Pro3280His)	675	BRCA2	Benign;Uncertain significance	80359246	RCV000045904; RCV000077477; RCV000130774;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972489	32972489	NM_000059.3:c.9839C>A	NP_000050.2:p.Pro3280His	NC_000013.10:g.32972489C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9843A>C (p.Pro3281=)	675	BRCA2	Uncertain significance	11571832	RCV000045905; RCV000112816;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972493	32972493	NM_000059.3:c.9843A>C	NP_000050.2:p.Pro3281=	NC_000013.10:g.32972493A>C,NC_000013.10:g.32972493A>G	Breast Cancer Information Core (BRCA2):10071&base_change=A to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9868delG (p.Val3290Phefs)	675	BRCA2	Pathogenic	80359776	RCV000045907; RCV000112818;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972518	32972518	NM_000059.3:c.9868delG	NP_000050.2:p.Val3290Phefs	NC_000013.10:g.32972518delG	Breast Cancer Information Core (BRCA2):10096&base_change=del G	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9876G>A (p.Pro3292=)	675	BRCA2	Likely benign	369047997	RCV000160259; RCV000210972; RCV000196882; RCV000163043;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32972526	32972526	NM_000059.3:c.9876G>A	NP_000050.2:p.Pro3292=	NC_000013.10:g.32972526G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9883C>T (p.Gln3295Ter)	675	BRCA2	Pathogenic	80359247	RCV000045909; RCV000112819;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972533	32972533	NM_000059.3:c.9883C>T	NP_000050.2:p.Gln3295Ter	NC_000013.10:g.32972533C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9890C>G (p.Ala3297Gly)	675	BRCA2	Uncertain significance	80359248	RCV000045910; RCV000112820;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972540	32972540	NM_000059.3:c.9890C>G	NP_000050.2:p.Ala3297Gly	NC_000013.10:g.32972540C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9891_9894dupATTT (p.Gln3299Ilefs)	675	BRCA2	Pathogenic	730881619	RCV000160313; RCV000222723;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32972541	32972544	NM_000059.3:c.9891_9894dupATTT	NP_000050.2:p.Gln3299Ilefs	NC_000013.10:g.32972541_32972544dupATTT	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.9905G>A (p.Arg3302Lys)	675	BRCA2	Likely benign;Uncertain significance	80359249	RCV000045911; RCV000083164;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972555	32972555	NM_000059.3:c.9905G>A	NP_000050.2:p.Arg3302Lys	NC_000013.10:g.32972555G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9907A>T (p.Ser3303Cys)	675	BRCA2	Uncertain significance	276174930	RCV000045912; RCV000112821; RCV000167325;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972557	32972557	NM_000059.3:c.9907A>T	NP_000050.2:p.Ser3303Cys	NC_000013.10:g.32972557A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9917C>T (p.Thr3306Ile)	675	BRCA2	Uncertain significance	80359250	RCV000045913; RCV000112822;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972567	32972567	NM_000059.3:c.9917C>T	NP_000050.2:p.Thr3306Ile	NC_000013.10:g.32972567C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9925G>T (p.Glu3309Ter)	675	BRCA2	Pathogenic	80359251	RCV000045917; RCV000112825;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972575	32972575	NM_000059.3:c.9925G>T	NP_000050.2:p.Glu3309Ter	NC_000013.10:g.32972575G>A,NC_000013.10:g.32972575G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9934A>G (p.Ile3312Val)	675	BRCA2	Uncertain significance	80359254	RCV000045919; RCV000031848;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972584	32972584	NM_000059.3:c.9934A>G	NP_000050.2:p.Ile3312Val	NC_000013.10:g.32972584A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.9936A>G (p.Ile3312Met)	675	BRCA2	Uncertain significance	80359255	RCV000045920; RCV000112826; RCV000165864;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972586	32972586	NM_000059.3:c.9936A>G	NP_000050.2:p.Ile3312Met	NC_000013.10:g.32972586A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9952A>C (p.Asn3318His)	675	BRCA2	Likely benign;Uncertain significance	80359256	RCV000045925; RCV000083165; RCV000165163;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972602	32972602	NM_000059.3:c.9952A>C	NP_000050.2:p.Asn3318His	NC_000013.10:g.32972602A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter)	675	BRCA2	Benign	11571833	RCV000157753; RCV000031849; RCV000045926; RCV000034474; RCV000120374; RCV000128910;	Y	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32972626	32972626	NM_000059.3:c.9976A>T	NP_000050.2:p.Lys3326Ter	NC_000013.10:g.32972626A>T	HGMD:CM993644	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.9997_9998delCT (p.Leu3333Phefs)	675	BRCA2	Uncertain significance	730881621	RCV000160318; RCV000217081;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32972647	32972648	NM_000059.3:c.9997_9998delCT	NP_000050.2:p.Leu3333Phefs	NC_000013.10:g.32972647_32972648delCT	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.10024G>T (p.Glu3342Ter)	675	BRCA2	Likely benign;Uncertain significance	28897761	RCV000043704; RCV000112832; RCV000129731;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972674	32972674	NM_000059.3:c.10024G>T	NP_000050.2:p.Glu3342Ter	NC_000013.10:g.32972674G>A,NC_000013.10:g.32972674G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.10070C>T (p.Thr3357Ile)	675	BRCA2	Uncertain significance	80358388	RCV000043706; RCV000112834; RCV000212292; RCV000130535;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32972720	32972720	NM_000059.3:c.10070C>T	NP_000050.2:p.Thr3357Ile	NC_000013.10:g.32972720C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.10071delA (p.Gly3358Glufs)	675	BRCA2	not provided	397507567	RCV000043707;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32972721	32972721	NM_000059.3:c.10071delA	NP_000050.2:p.Gly3358Glufs	NC_000013.10:g.32972721delA	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10076A>G (p.Glu3359Gly)	675	BRCA2	Uncertain significance	80358389	RCV000043708; RCV000112835; RCV000222126;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32972726	32972726	NM_000059.3:c.10076A>G	NP_000050.2:p.Glu3359Gly	NC_000013.10:g.32972726A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_000059.3(BRCA2):c.10091_10092delCT (p.Ser3364Cysfs)	675	BRCA2	Uncertain significance	80359257	RCV000043710; RCV000112837;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972741	32972742	NM_000059.3:c.10091_10092delCT	NP_000050.2:p.Ser3364Cysfs	NC_000013.10:g.32972741_32972742delCT	Breast Cancer Information Core (BRCA2):10319&base_change=del CT	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10105A>G (p.Thr3369Ala)	675	BRCA2	Uncertain significance	80358392	RCV000043712; RCV000112840;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972755	32972755	NM_000059.3:c.10105A>G	NP_000050.2:p.Thr3369Ala	NC_000013.10:g.32972755A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala)	675	BRCA2	Benign;Likely benign;Uncertain significance	80358393	RCV000043714; RCV000031301; RCV000167810; RCV000034424; RCV000131701;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN221809	13	32972761	32972761	NM_000059.3:c.10111A>G	NP_000050.2:p.Thr3371Ala	NC_000013.10:g.32972761A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_000059.3(BRCA2):c.10112C>G (p.Thr3371Ser)	675	BRCA2	Uncertain significance	80358394	RCV000043715; RCV000112842;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972762	32972762	NM_000059.3:c.10112C>G	NP_000050.2:p.Thr3371Ser	NC_000013.10:g.32972762C>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10121C>T (p.Thr3374Ile)	675	BRCA2	Benign;Likely benign;Uncertain significance	56309455	RCV000043718; RCV000077246; RCV000167783; RCV000120375; RCV000131153;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32972771	32972771	NM_000059.3:c.10121C>T	NP_000050.2:p.Thr3374Ile	NC_000013.10:g.32972771C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.10151G>A (p.Arg3384Gln)	675	BRCA2	Uncertain significance	80358397	RCV000043721; RCV000112845; RCV000212293;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32972801	32972801	NM_000059.3:c.10151G>A	NP_000050.2:p.Arg3384Gln	NC_000013.10:g.32972801G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_000059.3(BRCA2):c.10153C>T (p.Arg3385Cys)	675	BRCA2	Benign;Likely benign	397507261	RCV000160261; RCV000031302; RCV000199846; RCV000130138;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C0677776, Orphanet:ORPHA145; MedGen:C2675520,OMIM:612555	13	32972803	32972803	NM_000059.3:c.10153C>T	NP_000050.2:p.Arg3385Cys	NC_000013.10:g.32972803C>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0677776 Hereditary breast and ovarian cancer syndrome; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.10157G>T (p.Cys3386Phe)	675	BRCA2	Uncertain significance	80358399	RCV000043723; RCV000112847;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972807	32972807	NM_000059.3:c.10157G>T	NP_000050.2:p.Cys3386Phe	NC_000013.10:g.32972807G>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10175A>C (p.Lys3392Thr)	675	BRCA2	Uncertain significance	80358400	RCV000043724; RCV000112848;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972825	32972825	NM_000059.3:c.10175A>C	NP_000050.2:p.Lys3392Thr	NC_000013.10:g.32972825A>C	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10204G>A (p.Glu3402Lys)	675	BRCA2	Uncertain significance	276174804	RCV000043726; RCV000112849; RCV000130717;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972854	32972854	NM_000059.3:c.10204G>A	NP_000050.2:p.Glu3402Lys	NC_000013.10:g.32972854G>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser)	675	BRCA2	Likely benign;Uncertain significance	80358401	RCV000043727; RCV000112850; RCV000212294; RCV000129602;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32972870	32972870	NM_000059.3:c.10220A>G	NP_000050.2:p.Asn3407Ser	NC_000013.10:g.32972870A>G	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter)	675	BRCA2	Benign;Likely benign	80358402	RCV000074509; RCV000112851; RCV000212295; RCV000131732;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374	13	32972872	32972872	NM_000059.3:c.10222A>T	NP_000050.2:p.Lys3408Ter	NC_000013.10:g.32972872A>T	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_000059.3(BRCA2):c.10230C>A (p.Asp3410Glu)	675	BRCA2	Uncertain significance	80358404	RCV000043730; RCV000112852;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555	13	32972880	32972880	NM_000059.3:c.10230C>A	NP_000050.2:p.Asp3410Glu	NC_000013.10:g.32972880C>A	-	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val)	675	BRCA2	Benign	1801426	RCV000157754; RCV000112853; RCV000034426; RCV000120373; RCV000130982;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:CN169374; MedGen:CN221809	13	32972884	32972884	NM_000059.3:c.10234A>G	NP_000050.2:p.Ile3412Val	NC_000013.10:g.32972884A>G	HGMD:CM970189	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_000059.3(BRCA2):c.10250A>G (p.Tyr3417Cys)	675	BRCA2	Likely benign	730881600	RCV000160263;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	13	32972900	32972900	NM_000059.3:c.10250A>G	NP_000050.2:p.Tyr3417Cys	NC_000013.10:g.32972900A>G	-	C0346153 114480 Familial cancer of breast
NM_000059.3(BRCA2):c.10251T>C (p.Tyr3417=)	675	BRCA2	Likely benign;Uncertain significance	80359779	RCV000043731; RCV000112855; RCV000218321;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C2675520,OMIM:612555; MedGen:C3280492,OMIM:614327,ORPHA:289539	13	32972901	32972901	NM_000059.3:c.10251T>C	NP_000050.2:p.Tyr3417=	NC_000013.10:g.32972901T>C	Breast Cancer Information Core (BRCA2):10479&base_change=T to C	C2675520 612555 Breast-ovarian cancer, familial 2; C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.3730_3731delAT (p.Met1244Valfs)	83990	BRIP1	Uncertain significance	730881646	RCV000205061; RCV000217493; RCV000160359;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	59760676	59760677	NM_032043.2:c.3730_3731delAT	NP_114432.2:p.Met1244Valfs	NC_000017.10:g.59760676_59760677delAT	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.3571A>G (p.Ile1191Val)	83990	BRIP1	Uncertain significance	761405340	RCV000198324; RCV000219026; RCV000166662;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59760836	59760836	NM_032043.2:c.3571A>G	NP_114432.2:p.Ile1191Val	NC_000017.10:g.59760836T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.3525dupT (p.Ile1176Tyrfs)	83990	BRIP1	Likely pathogenic;Uncertain significance	777367075	RCV000196468; RCV000216896;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59760882	59760882	NM_032043.2:c.3525dupT	NP_114432.2:p.Ile1176Tyrfs	NC_000017.10:g.59760882dupA	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.3507C>A (p.Asp1169Glu)	83990	BRIP1	Uncertain significance	375741316	RCV000205088; RCV000216628;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59760900	59760900	NM_032043.2:c.3507C>A	NP_114432.2:p.Asp1169Glu		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.3464G>A (p.Gly1155Glu)	83990	BRIP1	Uncertain significance	45603843	RCV000200049; RCV000116158;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59760943	59760943	NM_032043.2:c.3464G>A	NP_114432.2:p.Gly1155Glu	NC_000017.10:g.59760943C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.3459T>C (p.Asp1153=)	83990	BRIP1	Benign;Likely benign	4987050	RCV000195846; RCV000212336; RCV000124030;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59760948	59760948	NM_032043.2:c.3459T>C	NP_114432.2:p.Asp1153=	NC_000017.10:g.59760948A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.3444C>A (p.Asp1148Glu)	83990	BRIP1	Uncertain significance	28997573	RCV000204453; RCV000120402; RCV000131003;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59760963	59760963	NM_032043.2:c.3444C>A	NP_114432.2:p.Asp1148Glu	NC_000017.10:g.59760963G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.3431A>G (p.Glu1144Gly)	83990	BRIP1	Uncertain significance	774605759	RCV000206799;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59760976	59760976	NM_032043.2:c.3431A>G	NP_114432.2:p.Glu1144Gly	NC_000017.10:g.59760976T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3401delC (p.Pro1134Leufs)	83990	BRIP1	Uncertain significance	756853672	RCV000205001; RCV000220379;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59761006	59761006	NM_032043.2:c.3401delC	NP_114432.2:p.Pro1134Leufs		-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_032043.2(BRIP1):c.3378A>C (p.Glu1126Asp)	83990	BRIP1	Likely benign;Uncertain significance	145855459	RCV000199757; RCV000212334; RCV000116156;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59761029	59761029	NM_032043.2:c.3378A>C	NP_114432.2:p.Glu1126Asp	NC_000017.10:g.59761029T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.3374_3376delCAG (p.Ala1125del)	83990	BRIP1	Uncertain significance	745344948	RCV000168472;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761031	59761033	NM_032043.2:c.3374_3376delCAG	NP_114432.2:p.Ala1125del	NC_000017.10:g.59761031_59761033delCTG	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3354T>C (p.Asn1118=)	83990	BRIP1	Likely benign;Uncertain significance	757427210	RCV000195896; RCV000165041;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761053	59761053	NM_032043.2:c.3354T>C	NP_114432.2:p.Asn1118=	NC_000017.10:g.59761053A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.3331G>C (p.Glu1111Gln)	83990	BRIP1	Uncertain significance	587780248	RCV000204181; RCV000214821; RCV000116155;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	59761076	59761076	NM_032043.2:c.3331G>C	NP_114432.2:p.Glu1111Gln	NC_000017.10:g.59761076C>G	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.3299A>T (p.Asp1100Val)	83990	BRIP1	Uncertain significance	864622072	RCV000203867;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761108	59761108	NM_032043.2:c.3299A>T	NP_114432.2:p.Asp1100Val	NC_000017.10:g.59761108T>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3275C>T (p.Pro1092Leu)	83990	BRIP1	Uncertain significance	587780830	RCV000123358; RCV000130186;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761132	59761132	NM_032043.2:c.3275C>T	NP_114432.2:p.Pro1092Leu	NC_000017.10:g.59761132G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.3266C>G (p.Ser1089Cys)	83990	BRIP1	Uncertain significance	761278503	RCV000205242;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761141	59761141	NM_032043.2:c.3266C>G	NP_114432.2:p.Ser1089Cys	NC_000017.10:g.59761141G>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3238G>A (p.Asp1080Asn)	83990	BRIP1	Uncertain significance	786204230	RCV000168373;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761169	59761169	NM_032043.2:c.3238G>A	NP_114432.2:p.Asp1080Asn	NC_000017.10:g.59761169C>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3237T>G (p.Ile1079Met)	83990	BRIP1	Uncertain significance	587781666	RCV000200144; RCV000129821;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761170	59761170	NM_032043.2:c.3237T>G	NP_114432.2:p.Ile1079Met	NC_000017.10:g.59761170A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.3236T>C (p.Ile1079Thr)	83990	BRIP1	Uncertain significance	150813402	RCV000204707; RCV000218787; RCV000116154;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	59761171	59761171	NM_032043.2:c.3236T>C	NP_114432.2:p.Ile1079Thr	NC_000017.10:g.59761171A>G	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.3227C>T (p.Ser1076Leu)	83990	BRIP1	Uncertain significance	864622113	RCV000204843;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761180	59761180	NM_032043.2:c.3227C>T	NP_114432.2:p.Ser1076Leu	NC_000017.10:g.59761180G>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3215C>A (p.Thr1072Asn)	83990	BRIP1	Uncertain significance	786204068	RCV000167953;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761192	59761192	NM_032043.2:c.3215C>A	NP_114432.2:p.Thr1072Asn	NC_000017.10:g.59761192G>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn)	83990	BRIP1	Uncertain significance	373040333	RCV000197620; RCV000213740; RCV000129015;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59761258	59761258	NM_032043.2:c.3149C>A	NP_114432.2:p.Thr1050Asn	NC_000017.10:g.59761258G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.3117G>A (p.Glu1039=)	83990	BRIP1	Likely benign	769310105	RCV000204316; RCV000216726;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59761290	59761290	NM_032043.2:c.3117G>A	NP_114432.2:p.Glu1039=		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.3104G>A (p.Arg1035His)	83990	BRIP1	Uncertain significance	367816363	RCV000206801; RCV000212333; RCV000116152;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59761303	59761303	NM_032043.2:c.3104G>A	NP_114432.2:p.Arg1035His	NC_000017.10:g.59761303C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.3103C>T (p.Arg1035Cys)	83990	BRIP1	Likely benign;Uncertain significance	45437094	RCV000196034; RCV000217987; RCV000129008;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59761304	59761304	NM_032043.2:c.3103C>T	NP_114432.2:p.Arg1035Cys	NC_000017.10:g.59761304G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.3099T>C (p.Pro1033=)	83990	BRIP1	Benign;Likely benign	202228407	RCV000195671; RCV000163110;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761308	59761308	NM_032043.2:c.3099T>C	NP_114432.2:p.Pro1033=	NC_000017.10:g.59761308A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.3080A>C (p.Glu1027Ala)	83990	BRIP1	Uncertain significance	863224804	RCV000195734;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761327	59761327	NM_032043.2:c.3080A>C	NP_114432.2:p.Glu1027Ala	NC_000017.10:g.59761327T>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3051G>A (p.Pro1017=)	83990	BRIP1	Likely benign	776990704	RCV000199217;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761356	59761356	NM_032043.2:c.3051G>A	NP_114432.2:p.Pro1017=	NC_000017.10:g.59761356C>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3042T>C (p.Gly1014=)	83990	BRIP1	Likely benign	188258913	RCV000123357; RCV000163156;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761365	59761365	NM_032043.2:c.3042T>C	NP_114432.2:p.Gly1014=	NC_000017.10:g.59761365A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.3039T>A (p.Thr1013=)	83990	BRIP1	Uncertain significance	863224803	RCV000199262;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761368	59761368	NM_032043.2:c.3039T>A	NP_114432.2:p.Thr1013=	NC_000017.10:g.59761368A>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.3009A>G (p.Ser1003=)	83990	BRIP1	Likely benign	751823379	RCV000196991; RCV000162641;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761398	59761398	NM_032043.2:c.3009A>G	NP_114432.2:p.Ser1003=	NC_000017.10:g.59761398T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.2937A>G (p.Lys979=)	83990	BRIP1	Benign;Likely benign	75091137	RCV000198911; RCV000212332; RCV000124029;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59761470	59761470	NM_032043.2:c.2937A>G	NP_114432.2:p.Lys979=	NC_000017.10:g.59761470T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2935A>G (p.Lys979Glu)	83990	BRIP1	Uncertain significance	730881627	RCV000205057; RCV000212331; RCV000160326;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59761472	59761472	NM_032043.2:c.2935A>G	NP_114432.2:p.Lys979Glu	NC_000017.10:g.59761472T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2929G>C (p.Ala977Pro)	83990	BRIP1	Uncertain significance	864622628	RCV000204833;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59761478	59761478	NM_032043.2:c.2929G>C	NP_114432.2:p.Ala977Pro	NC_000017.10:g.59761478C>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2885T>C (p.Ile962Thr)	83990	BRIP1	Uncertain significance	786201632	RCV000197368; RCV000164008;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59763217	59763217	NM_032043.2:c.2885T>C	NP_114432.2:p.Ile962Thr	NC_000017.10:g.59763217A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.2833G>C (p.Glu945Gln)	83990	BRIP1	Uncertain significance	863224802	RCV000195543;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59763269	59763269	NM_032043.2:c.2833G>C	NP_114432.2:p.Glu945Gln	NC_000017.10:g.59763269C>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2830C>G (p.Gln944Glu)	83990	BRIP1	Uncertain significance	140233356	RCV000199089; RCV000212330; RCV000116149;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59763272	59763272	NM_032043.2:c.2830C>G	NP_114432.2:p.Gln944Glu	NC_000017.10:g.59763272G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2828T>C (p.Val943Ala)	83990	BRIP1	Uncertain significance	786204143	RCV000168126;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59763274	59763274	NM_032043.2:c.2828T>C	NP_114432.2:p.Val943Ala	NC_000017.10:g.59763274A>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2801T>C (p.Phe934Ser)	83990	BRIP1	Uncertain significance	778916092	RCV000204761; RCV000221756;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59763301	59763301	NM_032043.2:c.2801T>C	NP_114432.2:p.Phe934Ser		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.2800T>G (p.Phe934Val)	83990	BRIP1	Uncertain significance	863224801	RCV000200748;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59763302	59763302	NM_032043.2:c.2800T>G	NP_114432.2:p.Phe934Val	NC_000017.10:g.59763302A>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2662C>T (p.His888Tyr)	83990	BRIP1	Uncertain significance	757668121	RCV000198208;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59763440	59763440	NM_032043.2:c.2662C>T	NP_114432.2:p.His888Tyr	NC_000017.10:g.59763440G>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2609A>C (p.His870Pro)	83990	BRIP1	Uncertain significance	864622201	RCV000206566;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59763493	59763493	NM_032043.2:c.2609A>C	NP_114432.2:p.His870Pro	NC_000017.10:g.59763493T>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2594G>A (p.Arg865Gln)	83990	BRIP1	Uncertain significance	781609846	RCV000198650; RCV000165535;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59763508	59763508	NM_032043.2:c.2594G>A	NP_114432.2:p.Arg865Gln	NC_000017.10:g.59763508C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.2579T>C (p.Leu860Pro)	83990	BRIP1	Uncertain significance	587780242	RCV000196126; RCV000212328; RCV000116146;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59763523	59763523	NM_032043.2:c.2579T>C	NP_114432.2:p.Leu860Pro	NC_000017.10:g.59763523A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2564G>A (p.Arg855His)	83990	BRIP1	Uncertain significance	200894063	RCV000167924; RCV000144588; RCV000212327; RCV000116144;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1836860,OMIM:609054; MedGen:CN169374	17	59770802	59770802	NM_032043.2:c.2564G>A	NP_114432.2:p.Arg855His	NC_000017.10:g.59770802C>T	-	C0346153 114480 Familial cancer of breast; C1836860 609054 Fanconi anemia, complementation group J; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2563C>T (p.Arg855Cys)	83990	BRIP1	Uncertain significance	146031731	RCV000199690; RCV000215624;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59770803	59770803	NM_032043.2:c.2563C>T	NP_114432.2:p.Arg855Cys	NC_000017.10:g.59770803G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.2492+2dupT	83990	BRIP1	Likely pathogenic;Uncertain significance	587780240	RCV000205157; RCV000116143;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59793310	59793310	NM_032043.2:c.2492+2dupT		NC_000017.10:g.59793310dupA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.2469G>T (p.Arg823Ser)	83990	BRIP1	Uncertain significance	587780239	RCV000123356; RCV000212325; RCV000116142;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59793335	59793335	NM_032043.2:c.2469G>T	NP_114432.2:p.Arg823Ser	NC_000017.10:g.59793335C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2464T>C (p.Tyr822His)	83990	BRIP1	Uncertain significance	760887592	RCV000196234;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59793340	59793340	NM_032043.2:c.2464T>C	NP_114432.2:p.Tyr822His	NC_000017.10:g.59793340A>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2447G>A (p.Trp816Ter)	83990	BRIP1	Pathogenic	786204250	RCV000168450;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59793357	59793357	NM_032043.2:c.2447G>A	NP_114432.2:p.Trp816Ter	NC_000017.10:g.59793357C>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2440C>T (p.Arg814Cys)	83990	BRIP1	Likely benign;Uncertain significance	201869624	RCV000168400; RCV000120399; RCV000131535;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59793364	59793364	NM_032043.2:c.2440C>T	NP_114432.2:p.Arg814Cys	NC_000017.10:g.59793364G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2400C>G (p.Tyr800Ter)	83990	BRIP1	Pathogenic	574552037	RCV000205848; RCV000131417;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59793404	59793404	NM_032043.2:c.2400C>G	NP_114432.2:p.Tyr800Ter	NC_000017.10:g.59793404G>A,NC_000017.10:g.59793404G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter)	83990	BRIP1	Pathogenic	137852986	RCV000205436; RCV000005004; RCV000212324; RCV000116139;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1836860,OMIM:609054; MedGen:CN221809	17	59793412	59793412	NM_032043.2:c.2392C>T	NP_114432.2:p.Arg798Ter	NC_000017.10:g.59793412G>A	OMIM Allelic Variant:605882.0003	C0346153 114480 Familial cancer of breast; C1836860 609054 Fanconi anemia, complementation group J; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_032043.2(BRIP1):c.2349A>T (p.Gly783=)	83990	BRIP1	Uncertain significance	863224799	RCV000199823;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59820404	59820404	NM_032043.2:c.2349A>T	NP_114432.2:p.Gly783=	NC_000017.10:g.59820404T>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2325T>G (p.Asn775Lys)	83990	BRIP1	Uncertain significance	375146450	RCV000206272;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59820428	59820428	NM_032043.2:c.2325T>G	NP_114432.2:p.Asn775Lys	NC_000017.10:g.59820428A>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2286T>C (p.Arg762=)	83990	BRIP1	Benign;Likely benign	61754141	RCV000197387; RCV000212321; RCV000124023;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59820467	59820467	NM_032043.2:c.2286T>C	NP_114432.2:p.Arg762=	NC_000017.10:g.59820467A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2268C>T (p.Leu756=)	83990	BRIP1	Likely benign	864622332	RCV000206498;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59820485	59820485	NM_032043.2:c.2268C>T	NP_114432.2:p.Leu756=	NC_000017.10:g.59820485G>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2255_2256delAA (p.Lys752Argfs)	83990	BRIP1	Pathogenic	730881649	RCV000167986; RCV000212320; RCV000160364;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	17	59821794	59821795	NM_032043.2:c.2255_2256delAA	NP_114432.2:p.Lys752Argfs	NC_000017.10:g.59821794_59821795delTT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_032043.2(BRIP1):c.2236A>G (p.Ile746Val)	83990	BRIP1	Benign	111536363	RCV000123355; RCV000120395; RCV000129045;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59821814	59821814	NM_032043.2:c.2236A>G	NP_114432.2:p.Ile746Val	NC_000017.10:g.59821814T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2220G>T (p.Gln740His)	83990	BRIP1	Uncertain significance	45589637	RCV000123354; RCV000120396; RCV000131414;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59821830	59821830	NM_032043.2:c.2220G>T	NP_114432.2:p.Gln740His	NC_000017.10:g.59821830C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2114_2118delAAGAA (p.Lys705Thrfs)	83990	BRIP1	Pathogenic	864622611	RCV000204583; RCV000216913;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	17	59821932	59821936	NM_032043.2:c.2114_2118delAAGAA	NP_114432.2:p.Lys705Thrfs		-	C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_032043.2(BRIP1):c.2108delAinsTCC (p.Lys703Ilefs)	83990	BRIP1	Pathogenic	786203384	RCV000203877; RCV000166665;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59821942	59821942	NM_032043.2:c.2108delAinsTCC	NP_114432.2:p.Lys703Ilefs	NC_000017.10:g.59821942delTinsGGA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.2098-10C>T	83990	BRIP1	Likely benign	864622767	RCV000206194;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59821962	59821962	NM_032043.2:c.2098-10C>T		NC_000017.10:g.59821962G>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.2097+7G>A	83990	BRIP1	Benign	4988352	RCV000123353; RCV000124038;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59853755	59853755	NM_032043.2:c.2097+7G>A		NC_000017.10:g.59853755C>T	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_032043.2(BRIP1):c.2087C>T (p.Pro696Leu)	83990	BRIP1	Uncertain significance	147755155	RCV000204798; RCV000212318; RCV000116135;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59853772	59853772	NM_032043.2:c.2087C>T	NP_114432.2:p.Pro696Leu	NC_000017.10:g.59853772G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2061G>C (p.Val687=)	83990	BRIP1	Benign;Likely benign	112414873	RCV000123352; RCV000212316; RCV000160354;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59853798	59853798	NM_032043.2:c.2061G>C	NP_114432.2:p.Val687=	NC_000017.10:g.59853798C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.2010dupT (p.Glu671Terfs)	83990	BRIP1	Pathogenic	775537066	RCV000205261; RCV000167209;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59853849	59853849	NM_032043.2:c.2010dupT	NP_114432.2:p.Glu671Terfs	NC_000017.10:g.59853849dupA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1984G>A (p.Ala662Thr)	83990	BRIP1	Uncertain significance	571340013	RCV000168048; RCV000167392;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59853875	59853875	NM_032043.2:c.1984G>A	NP_114432.2:p.Ala662Thr	NC_000017.10:g.59853875C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1972C>T (p.Arg658Trp)	83990	BRIP1	Uncertain significance	786203170	RCV000205396; RCV000166362;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59853887	59853887	NM_032043.2:c.1972C>T	NP_114432.2:p.Arg658Trp	NC_000017.10:g.59853887G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1946G>C (p.Gly649Ala)	83990	BRIP1	Uncertain significance	746066323	RCV000204591;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59853913	59853913	NM_032043.2:c.1946G>C	NP_114432.2:p.Gly649Ala	NC_000017.10:g.59853913C>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1936-5_1936-4delTCinsGT	83990	BRIP1	Uncertain significance	587781481	RCV000205283; RCV000116133;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59853927	59853928	NM_032043.2:c.1936-5_1936-4delTCinsGT		NC_000017.10:g.59853927_59853928delGAinsAC	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1936-4C>T	83990	BRIP1	Likely benign	587780552	RCV000119210;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59853927	59853927	NM_032043.2:c.1936-4C>T		NC_000017.10:g.59853927G>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1890A>G (p.Thr630=)	83990	BRIP1	Likely benign	145796331	RCV000200360; RCV000165296;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59857667	59857667	NM_032043.2:c.1890A>G	NP_114432.2:p.Thr630=	NC_000017.10:g.59857667T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1871C>T (p.Ser624Leu)	83990	BRIP1	Uncertain significance	587781321	RCV000197937; RCV000166032;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59857686	59857686	NM_032043.2:c.1871C>T	NP_114432.2:p.Ser624Leu	NC_000017.10:g.59857686G>A,NC_000017.10:g.59857686G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1867T>A (p.Phe623Ile)	83990	BRIP1	Uncertain significance	864622438	RCV000206329;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59857690	59857690	NM_032043.2:c.1867T>A	NP_114432.2:p.Phe623Ile	NC_000017.10:g.59857690A>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1838C>T (p.Thr613Ile)	83990	BRIP1	Uncertain significance	864622345	RCV000204974;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59857719	59857719	NM_032043.2:c.1838C>T	NP_114432.2:p.Thr613Ile	NC_000017.10:g.59857719G>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1787C>T (p.Pro596Leu)	83990	BRIP1	Uncertain significance	864622155	RCV000205584;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59858208	59858208	NM_032043.2:c.1787C>T	NP_114432.2:p.Pro596Leu	NC_000017.10:g.59858208G>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1758T>C (p.Val586=)	83990	BRIP1	Likely benign	863224433	RCV000198169;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59858237	59858237	NM_032043.2:c.1758T>C	NP_114432.2:p.Val586=	NC_000017.10:g.59858237A>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1735C>T (p.Arg579Cys)	83990	BRIP1	Uncertain significance	28997571	RCV000196018; RCV000212315; RCV000116130;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59858260	59858260	NM_032043.2:c.1735C>T	NP_114432.2:p.Arg579Cys	NC_000017.10:g.59858260G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.1731G>A (p.Lys577=)	83990	BRIP1	Uncertain significance	587780829	RCV000123351;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59858264	59858264	NM_032043.2:c.1731G>A	NP_114432.2:p.Lys577=	NC_000017.10:g.59858264C>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1655T>C (p.Ile552Thr)	83990	BRIP1	Uncertain significance	369340666	RCV000204568; RCV000215881; RCV000132461;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59858340	59858340	NM_032043.2:c.1655T>C	NP_114432.2:p.Ile552Thr	NC_000017.10:g.59858340A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.1653G>A (p.Ala551=)	83990	BRIP1	Likely benign	750213758	RCV000197315; RCV000163462;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59858342	59858342	NM_032043.2:c.1653G>A	NP_114432.2:p.Ala551=	NC_000017.10:g.59858342C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1652C>A (p.Ala551Glu)	83990	BRIP1	Uncertain significance	375246789	RCV000205457; RCV000217074;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59858343	59858343	NM_032043.2:c.1652C>A	NP_114432.2:p.Ala551Glu		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.1629-3T>C	83990	BRIP1	Benign;Uncertain significance	587780828	RCV000123350; RCV000212313; RCV000130219;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59858369	59858369	NM_032043.2:c.1629-3T>C		NC_000017.10:g.59858369A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.1626C>T (p.Ser542=)	83990	BRIP1	Likely benign	373709958	RCV000200498; RCV000162732;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59861633	59861633	NM_032043.2:c.1626C>T	NP_114432.2:p.Ser542=	NC_000017.10:g.59861633G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1609C>G (p.Leu537Val)	83990	BRIP1	Uncertain significance	864622208	RCV000205999;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59861650	59861650	NM_032043.2:c.1609C>G	NP_114432.2:p.Leu537Val	NC_000017.10:g.59861650G>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1591T>G (p.Phe531Val)	83990	BRIP1	Uncertain significance	4988350	RCV000206417;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59861668	59861668	NM_032043.2:c.1591T>G	NP_114432.2:p.Phe531Val	NC_000017.10:g.59861668A>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1474-3T>C	83990	BRIP1	Uncertain significance	552752779	RCV000199588; RCV000164980;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59861788	59861788	NM_032043.2:c.1474-3T>C		NC_000017.10:g.59861788A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.1474-9T>G	83990	BRIP1	Likely benign	863224432	RCV000198265;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59861794	59861794	NM_032043.2:c.1474-9T>G		NC_000017.10:g.59861794A>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1473+6A>G	83990	BRIP1	Uncertain significance	587780827	RCV000123349;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59870952	59870952	NM_032043.2:c.1473+6A>G		NC_000017.10:g.59870952T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1446C>G (p.Ile482Met)	83990	BRIP1	Uncertain significance	759360709	RCV000197743;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59870985	59870985	NM_032043.2:c.1446C>G	NP_114432.2:p.Ile482Met	NC_000017.10:g.59870985G>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1444A>G (p.Ile482Val)	83990	BRIP1	Uncertain significance	142744352	RCV000195858; RCV000218129; RCV000116128;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	59870987	59870987	NM_032043.2:c.1444A>G	NP_114432.2:p.Ile482Val	NC_000017.10:g.59870987T>C	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.1433A>G (p.His478Arg)	83990	BRIP1	Uncertain significance	45501097	RCV000123348; RCV000120388; RCV000116125;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59870998	59870998	NM_032043.2:c.1433A>G	NP_114432.2:p.His478Arg	NC_000017.10:g.59870998T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.1383T>C (p.Tyr461=)	83990	BRIP1	Benign;Likely benign	587780875	RCV000205219; RCV000212310; RCV000124034;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59871048	59871048	NM_032043.2:c.1383T>C	NP_114432.2:p.Tyr461=	NC_000017.10:g.59871048A>C,NC_000017.10:g.59871048A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.1383T>G (p.Tyr461Ter)	83990	BRIP1	Pathogenic	587780875	RCV000195948;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59871048	59871048	NM_032043.2:c.1383T>G	NP_114432.2:p.Tyr461Ter	NC_000017.10:g.59871048A>C,NC_000017.10:g.59871048A>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1363T>A (p.Tyr455Asn)	83990	BRIP1	Uncertain significance	587780826	RCV000123347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59871068	59871068	NM_032043.2:c.1363T>A	NP_114432.2:p.Tyr455Asn	NC_000017.10:g.59871068A>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1356C>T (p.Asn452=)	83990	BRIP1	Benign;Likely benign	730881640	RCV000205394; RCV000213455; RCV000160351;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	59871075	59871075	NM_032043.2:c.1356C>T	NP_114432.2:p.Asn452=	NC_000017.10:g.59871075G>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.1343G>A (p.Trp448Ter)	83990	BRIP1	Pathogenic	775171520	RCV000198848;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59871088	59871088	NM_032043.2:c.1343G>A	NP_114432.2:p.Trp448Ter	NC_000017.10:g.59871088C>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1341-3C>G	83990	BRIP1	Uncertain significance	864622597	RCV000204500;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59871093	59871093	NM_032043.2:c.1341-3C>G		NC_000017.10:g.59871093G>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1304A>G (p.His435Arg)	83990	BRIP1	Uncertain significance	730881636	RCV000204749; RCV000212308; RCV000160338;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59876497	59876497	NM_032043.2:c.1304A>G	NP_114432.2:p.His435Arg	NC_000017.10:g.59876497T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.1287T>C (p.Asn429=)	83990	BRIP1	Likely benign	863224431	RCV000196759;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59876514	59876514	NM_032043.2:c.1287T>C	NP_114432.2:p.Asn429=	NC_000017.10:g.59876514A>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1263A>G (p.Glu421=)	83990	BRIP1	Likely benign	864622423	RCV000206499;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59876538	59876538	NM_032043.2:c.1263A>G	NP_114432.2:p.Glu421=	NC_000017.10:g.59876538T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1255C>T (p.Arg419Trp)	83990	BRIP1	Uncertain significance	150624408	RCV000206467; RCV000120413; RCV000116120;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59876546	59876546	NM_032043.2:c.1255C>T	NP_114432.2:p.Arg419Trp	NC_000017.10:g.59876546G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.1236delA (p.Val413Phefs)	83990	BRIP1	Pathogenic	863224525	RCV000200575; RCV000216061;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59876565	59876565	NM_032043.2:c.1236delA	NP_114432.2:p.Val413Phefs	NC_000017.10:g.59876565delT	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.1207C>T (p.Arg403Trp)	83990	BRIP1	Uncertain significance	369631413	RCV000123346; RCV000215569;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59876594	59876594	NM_032043.2:c.1207C>T	NP_114432.2:p.Arg403Trp	NC_000017.10:g.59876594G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.1198G>T (p.Asp400Tyr)	83990	BRIP1	Uncertain significance	764711572	RCV000196847; RCV000215891; RCV000219685;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	17	59876603	59876603	NM_032043.2:c.1198G>T	NP_114432.2:p.Asp400Tyr	NC_000017.10:g.59876603C>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.1171A>G (p.Ile391Val)	83990	BRIP1	Uncertain significance	863224798	RCV000195653;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59876630	59876630	NM_032043.2:c.1171A>G	NP_114432.2:p.Ile391Val	NC_000017.10:g.59876630T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1165G>A (p.Val389Ile)	83990	BRIP1	Uncertain significance	587780825	RCV000123345; RCV000219844;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59876636	59876636	NM_032043.2:c.1165G>A	NP_114432.2:p.Val389Ile	NC_000017.10:g.59876636C>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.1153C>A (p.Leu385Met)	83990	BRIP1	Uncertain significance	748001678	RCV000199172;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59876648	59876648	NM_032043.2:c.1153C>A	NP_114432.2:p.Leu385Met	NC_000017.10:g.59876648G>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1059C>T (p.Tyr353=)	83990	BRIP1	Likely benign	864622375	RCV000205462;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59878695	59878695	NM_032043.2:c.1059C>T	NP_114432.2:p.Tyr353=	NC_000017.10:g.59878695G>A	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.1021G>A (p.Val341Ile)	83990	BRIP1	Uncertain significance	863224797	RCV000197282;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59878733	59878733	NM_032043.2:c.1021G>A	NP_114432.2:p.Val341Ile	NC_000017.10:g.59878733C>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.972A>T (p.Thr324=)	83990	BRIP1	Likely benign	779627397	RCV000203800;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59878782	59878782	NM_032043.2:c.972A>T	NP_114432.2:p.Thr324=		-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.958delA (p.Ser320Valfs)	83990	BRIP1	Pathogenic	864622236	RCV000204964;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59878796	59878796	NM_032043.2:c.958delA	NP_114432.2:p.Ser320Valfs	NC_000017.10:g.59878796delT	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.(?_-1)_918+?dup	83990	BRIP1	Uncertain significance	-1	RCV000200216;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59885828	59938901	NM_032043.2:c.(?_-1)_918+?dup			-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg)	83990	BRIP1	Benign;Likely benign	28997570	RCV000123367; RCV000120408; RCV000116167;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59885856	59885856	NM_032043.2:c.890A>G	NP_114432.2:p.Lys297Arg	NC_000017.10:g.59885856T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.890delA (p.Lys297Serfs)	83990	BRIP1	Pathogenic	786202610	RCV000168341; RCV000165504;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59885856	59885856	NM_032043.2:c.890delA	NP_114432.2:p.Lys297Serfs	NC_000017.10:g.59885856delT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.866delT (p.Val289Alafs)	83990	BRIP1	Pathogenic	864622166	RCV000205570;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59885880	59885880	NM_032043.2:c.866delT	NP_114432.2:p.Val289Alafs	NC_000017.10:g.59885880delA	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.852C>T (p.Val284=)	83990	BRIP1	Benign;Likely benign	144940449	RCV000206292; RCV000212304; RCV000160349;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59885894	59885894	NM_032043.2:c.852C>T	NP_114432.2:p.Val284=	NC_000017.10:g.59885894G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.797C>T (p.Thr266Met)	83990	BRIP1	Uncertain significance	550031006	RCV000198777; RCV000116165;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59885949	59885949	NM_032043.2:c.797C>T	NP_114432.2:p.Thr266Met	NC_000017.10:g.59885949G>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_032043.2(BRIP1):c.790C>T (p.Arg264Trp)	83990	BRIP1	Likely benign	28997569	RCV000123366; RCV000120409; RCV000116164;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59885956	59885956	NM_032043.2:c.790C>T	NP_114432.2:p.Arg264Trp	NC_000017.10:g.59885956G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.778A>G (p.Thr260Ala)	83990	BRIP1	Uncertain significance	138743097	RCV000123365; RCV000212303; RCV000160362;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59885968	59885968	NM_032043.2:c.778A>G	NP_114432.2:p.Thr260Ala	NC_000017.10:g.59885968T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.751C>T (p.Arg251Cys)	83990	BRIP1	Likely pathogenic;Uncertain significance	752309409	RCV000206065; RCV000219928; RCV000165345;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	17	59885995	59885995	NM_032043.2:c.751C>T	NP_114432.2:p.Arg251Cys	NC_000017.10:g.59885995G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_032043.2(BRIP1):c.701A>G (p.Lys234Arg)	83990	BRIP1	Uncertain significance	587780834	RCV000123364;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59886045	59886045	NM_032043.2:c.701A>G	NP_114432.2:p.Lys234Arg	NC_000017.10:g.59886045T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.679C>G (p.Gln227Glu)	83990	BRIP1	Uncertain significance	45459799	RCV000196200;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59886067	59886067	NM_032043.2:c.679C>G	NP_114432.2:p.Gln227Glu	NC_000017.10:g.59886067G>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.638A>G (p.His213Arg)	83990	BRIP1	Uncertain significance	376760085	RCV000205783; RCV000217577; RCV000166239;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59886108	59886108	NM_032043.2:c.638A>G	NP_114432.2:p.His213Arg	NC_000017.10:g.59886108T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.630C>T (p.Pro210=)	83990	BRIP1	Likely benign	864622510	RCV000205934; RCV000221545;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59886116	59886116	NM_032043.2:c.630C>T	NP_114432.2:p.Pro210=		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.628C>T (p.Pro210Ser)	83990	BRIP1	Uncertain significance	150313156	RCV000200420; RCV000130394;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59886118	59886118	NM_032043.2:c.628C>T	NP_114432.2:p.Pro210Ser	NC_000017.10:g.59886118G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.627+1G>A	83990	BRIP1	Likely pathogenic;Pathogenic	587780833	RCV000123363; RCV000223616; RCV000160322;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	17	59924461	59924461	NM_032043.2:c.627+1G>A		NC_000017.10:g.59924461C>T	-	C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.617C>T (p.Ser206Leu)	83990	BRIP1	Uncertain significance	565458815	RCV000168335; RCV000222015;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59924472	59924472	NM_032043.2:c.617C>T	NP_114432.2:p.Ser206Leu	NC_000017.10:g.59924472G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.612C>G (p.Ser204=)	83990	BRIP1	Likely benign	587780832	RCV000123362;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59924477	59924477	NM_032043.2:c.612C>G	NP_114432.2:p.Ser204=	NC_000017.10:g.59924477G>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.590C>T (p.Ser197Phe)	83990	BRIP1	Uncertain significance	533184563	RCV000198544; RCV000131156;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59924499	59924499	NM_032043.2:c.590C>T	NP_114432.2:p.Ser197Phe	NC_000017.10:g.59924499G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.587A>G (p.Asn196Ser)	83990	BRIP1	Likely benign;Uncertain significance	550707862	RCV000198125; RCV000116163;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59924502	59924502	NM_032043.2:c.587A>G	NP_114432.2:p.Asn196Ser	NC_000017.10:g.59924502T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.584T>C (p.Leu195Pro)	83990	BRIP1	Benign;Likely benign	4988347	RCV000123361; RCV000120407; RCV000116162;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59924505	59924505	NM_032043.2:c.584T>C	NP_114432.2:p.Leu195Pro	NC_000017.10:g.59924505A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.577G>A (p.Val193Ile)	83990	BRIP1	Benign;Likely benign	4988346	RCV000119142; RCV000120406; RCV000116161;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59924512	59924512	NM_032043.2:c.577G>A	NP_114432.2:p.Val193Ile	NC_000017.10:g.59924512C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.550G>T (p.Asp184Tyr)	83990	BRIP1	Uncertain significance	201047375	RCV000168177; RCV000212302; RCV000132540;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59924539	59924539	NM_032043.2:c.550G>T	NP_114432.2:p.Asp184Tyr	NC_000017.10:g.59924539C>A,NC_000017.10:g.59924539C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.537A>G (p.Glu179=)	83990	BRIP1	Likely benign;Uncertain significance	775509896	RCV000196641; RCV000165068;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59924552	59924552	NM_032043.2:c.537A>G	NP_114432.2:p.Glu179=	NC_000017.10:g.59924552T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.518G>A (p.Arg173His)	83990	BRIP1	Uncertain significance	761432927	RCV000199555; RCV000166292;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59924571	59924571	NM_032043.2:c.518G>A	NP_114432.2:p.Arg173His	NC_000017.10:g.59924571C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys)	83990	BRIP1	Benign;Likely benign	4988345	RCV000123360; RCV000120405; RCV000129172;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59924572	59924572	NM_032043.2:c.517C>T	NP_114432.2:p.Arg173Cys	NC_000017.10:g.59924572G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.508-1G>C	83990	BRIP1	Likely pathogenic	864622277	RCV000203783;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59924582	59924582	NM_032043.2:c.508-1G>C		NC_000017.10:g.59924582C>G	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.484C>T (p.Arg162Ter)	83990	BRIP1	Pathogenic	747604569	RCV000198978; RCV000166003;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59926513	59926513	NM_032043.2:c.484C>T	NP_114432.2:p.Arg162Ter	NC_000017.10:g.59926513G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.430G>A (p.Ala144Thr)	83990	BRIP1	Benign	116952709	RCV000168274; RCV000120404; RCV000131536;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59926567	59926567	NM_032043.2:c.430G>A	NP_114432.2:p.Ala144Thr	NC_000017.10:g.59926567C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.415T>G (p.Ser139Ala)	83990	BRIP1	Uncertain significance	202072866	RCV000119157; RCV000217838; RCV000131152;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59926582	59926582	NM_032043.2:c.415T>G	NP_114432.2:p.Ser139Ala	NC_000017.10:g.59926582A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.413T>C (p.Leu138Ser)	83990	BRIP1	Uncertain significance	587780251	RCV000168359; RCV000212301; RCV000116160;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59926584	59926584	NM_032043.2:c.413T>C	NP_114432.2:p.Leu138Ser	NC_000017.10:g.59926584A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.394A>T (p.Thr132Ser)	83990	BRIP1	Uncertain significance	730881623	RCV000167936; RCV000212300; RCV000160320;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59926603	59926603	NM_032043.2:c.394A>T	NP_114432.2:p.Thr132Ser	NC_000017.10:g.59926603T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.386C>T (p.Pro129Leu)	83990	BRIP1	Uncertain significance	587780831	RCV000123359; RCV000213973;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59926611	59926611	NM_032043.2:c.386C>T	NP_114432.2:p.Pro129Leu	NC_000017.10:g.59926611G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.370A>G (p.Thr124Ala)	83990	BRIP1	Uncertain significance	45617634	RCV000205266; RCV000212299; RCV000160363;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59934428	59934428	NM_032043.2:c.370A>G	NP_114432.2:p.Thr124Ala	NC_000017.10:g.59934428T>C,NC_000017.10:g.59934428T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.317G>A (p.Arg106His)	83990	BRIP1	Likely benign;Uncertain significance	143615668	RCV000197570; RCV000220020; RCV000131589;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59934481	59934481	NM_032043.2:c.317G>A	NP_114432.2:p.Arg106His	NC_000017.10:g.59934481C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.316C>T (p.Arg106Cys)	83990	BRIP1	Uncertain significance	587780247	RCV000205068; RCV000212298; RCV000116153;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59934482	59934482	NM_032043.2:c.316C>T	NP_114432.2:p.Arg106Cys	NC_000017.10:g.59934482G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.297C>T (p.Asp99=)	83990	BRIP1	Likely benign	201617644	RCV000204492; RCV000163407;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934501	59934501	NM_032043.2:c.297C>T	NP_114432.2:p.Asp99=	NC_000017.10:g.59934501G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.290_293delACAA (p.Asn97Metfs)	83990	BRIP1	Pathogenic	763009188	RCV000197800; RCV000167103;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934505	59934508	NM_032043.2:c.290_293delACAA	NP_114432.2:p.Asn97Metfs	NC_000017.10:g.59934505_59934508delTTGT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.293A>G (p.Asn98Ser)	83990	BRIP1	Uncertain significance	781121675	RCV000206440;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934505	59934505	NM_032043.2:c.293A>G	NP_114432.2:p.Asn98Ser	NC_000017.10:g.59934505T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.281A>G (p.Asp94Gly)	83990	BRIP1	Uncertain significance	529201896	RCV000197173;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934517	59934517	NM_032043.2:c.281A>G	NP_114432.2:p.Asp94Gly	NC_000017.10:g.59934517T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.262_264delTGT (p.Cys88del)	83990	BRIP1	Uncertain significance	587781388	RCV000206278; RCV000221468; RCV000129221;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	17	59934534	59934536	NM_032043.2:c.262_264delTGT	NP_114432.2:p.Cys88del	NC_000017.10:g.59934534_59934536delACA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; C3280492 614327 Tumor predisposition syndrome
NM_032043.2(BRIP1):c.260G>C (p.Cys87Ser)	83990	BRIP1	Uncertain significance	863224800	RCV000197005;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934538	59934538	NM_032043.2:c.260G>C	NP_114432.2:p.Cys87Ser	NC_000017.10:g.59934538C>G,NC_000017.10:g.59934538C>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.260G>A (p.Cys87Tyr)	83990	BRIP1	Uncertain significance	863224800	RCV000200543;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934538	59934538	NM_032043.2:c.260G>A	NP_114432.2:p.Cys87Tyr	NC_000017.10:g.59934538C>G,NC_000017.10:g.59934538C>T	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.254C>T (p.Ser85Leu)	83990	BRIP1	Uncertain significance	587781830	RCV000198791; RCV000130117;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934544	59934544	NM_032043.2:c.254C>T	NP_114432.2:p.Ser85Leu	NC_000017.10:g.59934544G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.249A>G (p.Gln83=)	83990	BRIP1	Likely benign;Uncertain significance	45528833	RCV000195494; RCV000178374; RCV000163644;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	17	59934549	59934549	NM_032043.2:c.249A>G	NP_114432.2:p.Gln83=	NC_000017.10:g.59934549T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_032043.2(BRIP1):c.246A>G (p.Val82=)	83990	BRIP1	Likely benign	864622659	RCV000204750;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934552	59934552	NM_032043.2:c.246A>G	NP_114432.2:p.Val82=	NC_000017.10:g.59934552T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.225C>T (p.Gly75=)	83990	BRIP1	Likely benign	186802750	RCV000199408; RCV000163431;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59934573	59934573	NM_032043.2:c.225C>T	NP_114432.2:p.Gly75=	NC_000017.10:g.59934573G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.205+3A>G	83990	BRIP1	Likely benign	539329589	RCV000197132;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59937154	59937154	NM_032043.2:c.205+3A>G		NC_000017.10:g.59937154T>C	-	C0346153 114480 Familial cancer of breast
NM_032043.2(BRIP1):c.195A>G (p.Gln65=)	83990	BRIP1	Benign;Likely benign	141436143	RCV000200414; RCV000212297; RCV000160348;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59937167	59937167	NM_032043.2:c.195A>G	NP_114432.2:p.Gln65=	NC_000017.10:g.59937167T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala)	83990	BRIP1	Likely pathogenic;Pathogenic;Uncertain significance	28903098	RCV000199377; RCV000005002; RCV000200979; RCV000116124;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN068837; MedGen:CN221809	17	59937223	59937223	NM_032043.2:c.139C>G	NP_114432.2:p.Pro47Ala	NC_000017.10:g.59937223G>C,NC_000017.10:g.59937223G>T	OMIM Allelic Variant:605882.0001	CN068837 Breast cancer, early-onset; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_032043.2(BRIP1):c.133G>T (p.Glu45Ter)	83990	BRIP1	Pathogenic	587781292	RCV000196974; RCV000128992;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	59937229	59937229	NM_032043.2:c.133G>T	NP_114432.2:p.Glu45Ter	NC_000017.10:g.59937229C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_032043.2(BRIP1):c.36G>T (p.Gly12=)	83990	BRIP1	Benign;Likely benign	45566938	RCV000197948; RCV000212296; RCV000124032;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	17	59938865	59938865	NM_032043.2:c.36G>T	NP_114432.2:p.Gly12=	NC_000017.10:g.59938865C>A,NC_000017.10:g.59938865C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.*7T>C	11200	CHEK2	Benign;Uncertain significance	121908710	RCV000206507; RCV000119290; RCV000160461;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374; MedGen:CN221809	22	29083878	29083878	NM_007194.3:c.*7T>C		NC_000022.10:g.29083878A>G	-	C0346153 114480 Familial cancer of breast; CN221809 not provided; CN169374 not specified
NM_007194.3(CHEK2):c.320-?_*(1_?)dup	11200	CHEK2	Uncertain significance	-1	RCV000199289;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29083884	29121355	NM_007194.3:c.320-?_*(1_?)dup			-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.1623T>C (p.Ala541=)	11200	CHEK2	Likely benign	773670297	RCV000204786;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29083894	29083894	NM_007194.3:c.1623T>C	NP_009125.1:p.Ala541=	NC_000022.10:g.29083894A>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.1597A>G (p.Thr533Ala)	11200	CHEK2	Likely benign;Uncertain significance	562517792	RCV000199838; RCV000130825;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29083920	29083920	NM_007194.3:c.1597A>G	NP_009125.1:p.Thr533Ala	NC_000022.10:g.29083920T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.1596delC (p.Thr533Glnfs)	11200	CHEK2	Uncertain significance	587781519	RCV000205993; RCV000129505;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29083921	29083921	NM_007194.3:c.1596delC	NP_009125.1:p.Thr533Glnfs	NC_000022.10:g.29083921delG	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.1586G>A (p.Gly529Asp)	11200	CHEK2	Uncertain significance	751653049	RCV000200863;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29083931	29083931	NM_007194.3:c.1586G>A	NP_009125.1:p.Gly529Asp	NC_000022.10:g.29083931C>T	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.1567delC (p.Arg523Valfs)	11200	CHEK2	Pathogenic;Uncertain significance	587782684	RCV000205272; RCV000212478; RCV000132111;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29083950	29083950	NM_007194.3:c.1567delC	NP_009125.1:p.Arg523Valfs	NC_000022.10:g.29083950delG	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1563G>A (p.Arg521=)	11200	CHEK2	Likely benign	761278013	RCV000197690; RCV000163193;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29083954	29083954	NM_007194.3:c.1563G>A	NP_009125.1:p.Arg521=	NC_000022.10:g.29083954C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.1556G>T (p.Arg519Leu)	11200	CHEK2	Uncertain significance	587780180	RCV000198277; RCV000212476; RCV000116007;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29083961	29083961	NM_007194.3:c.1556G>T	NP_009125.1:p.Arg519Leu	NC_000022.10:g.29083961C>A,NC_000022.10:g.29083961C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1534C>G (p.Leu512Val)	11200	CHEK2	Uncertain significance	17882942	RCV000197078; RCV000218664; RCV000130543;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29085131	29085131	NM_007194.3:c.1534C>G	NP_009125.1:p.Leu512Val	NC_000022.10:g.29085131G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1525C>T (p.Pro509Ser)	11200	CHEK2	Uncertain significance	587780179	RCV000200569; RCV000212472; RCV000116004;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29085140	29085140	NM_007194.3:c.1525C>T	NP_009125.1:p.Pro509Ser	NC_000022.10:g.29085140G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1510G>C (p.Glu504Gln)	11200	CHEK2	Uncertain significance	587782489	RCV000198676; RCV000214263; RCV000131614;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29085155	29085155	NM_007194.3:c.1510G>C	NP_009125.1:p.Glu504Gln	NC_000022.10:g.29085155C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1501G>A (p.Glu501Lys)	11200	CHEK2	Likely benign;Uncertain significance	17883172	RCV000205886; RCV000213437; RCV000160440;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	22	29085164	29085164	NM_007194.3:c.1501G>A	NP_009125.1:p.Glu501Lys	NC_000022.10:g.29085164C>T	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.1497G>C (p.Leu499=)	11200	CHEK2	Benign;Likely benign	587780890	RCV000195471; RCV000212470; RCV000124266;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29085168	29085168	NM_007194.3:c.1497G>C	NP_009125.1:p.Leu499=	NC_000022.10:g.29085168C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1489G>A (p.Asp497Asn)	11200	CHEK2	Likely benign;Uncertain significance	143965148	RCV000203702; RCV000221776; RCV000131571;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29085176	29085176	NM_007194.3:c.1489G>A	NP_009125.1:p.Asp497Asn	NC_000022.10:g.29085176C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1462-7C>G	11200	CHEK2	Benign;Likely benign	730881707	RCV000203819; RCV000160460;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29085210	29085210	NM_007194.3:c.1462-7C>G		NC_000022.10:g.29085210G>C	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007194.3(CHEK2):c.1451C>T (p.Pro484Leu)	11200	CHEK2	Uncertain significance	564605612	RCV000206213; RCV000212468; RCV000129213;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29090030	29090030	NM_007194.3:c.1451C>T	NP_009125.1:p.Pro484Leu	NC_000022.10:g.29090030G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1448A>G (p.His483Arg)	11200	CHEK2	Uncertain significance	587780177	RCV000199678; RCV000212466; RCV000116002;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29090033	29090033	NM_007194.3:c.1448A>G	NP_009125.1:p.His483Arg	NC_000022.10:g.29090033T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1427C>T (p.Thr476Met)	11200	CHEK2	Likely pathogenic;Uncertain significance	142763740	RCV000198554; RCV000210077; RCV000212465; RCV000116001;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1858433; MedGen:CN221809	22	29090054	29090054	NM_007194.3:c.1427C>T	NP_009125.1:p.Thr476Met	NC_000022.10:g.29090054G>A	-	C1858433 Breast and colorectal cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.1423T>A (p.Phe475Ile)	11200	CHEK2	Uncertain significance	370968992	RCV000206734; RCV000212464; RCV000129382;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29090058	29090058	NM_007194.3:c.1423T>A	NP_009125.1:p.Phe475Ile	NC_000022.10:g.29090058A>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1421G>A (p.Arg474His)	11200	CHEK2	Uncertain significance	121908706	RCV000206096; RCV000114766; RCV000212463; RCV000116000;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374; MedGen:CN221809	22	29090060	29090060	NM_007194.3:c.1421G>A	NP_009125.1:p.Arg474His	NC_000022.10:g.29090060C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007194.3(CHEK2):c.1420C>T (p.Arg474Cys)	11200	CHEK2	Uncertain significance	540635787	RCV000206044; RCV000212462; RCV000115999;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29090061	29090061	NM_007194.3:c.1420C>T	NP_009125.1:p.Arg474Cys	NC_000022.10:g.29090061G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1410T>C (p.Asp470=)	11200	CHEK2	Likely benign	864622382	RCV000203830;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29090071	29090071	NM_007194.3:c.1410T>C	NP_009125.1:p.Asp470=	NC_000022.10:g.29090071A>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.1407G>A (p.Val469=)	11200	CHEK2	Benign;Likely benign	17881378	RCV000200578; RCV000212461; RCV000124265;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29090074	29090074	NM_007194.3:c.1407G>A	NP_009125.1:p.Val469=	NC_000022.10:g.29090074C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1343T>G (p.Ile448Ser)	11200	CHEK2	Benign	17886163	RCV000203747; RCV000120559; RCV000132487;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29091147	29091147	NM_007194.3:c.1343T>G	NP_009125.1:p.Ile448Ser	NC_000022.10:g.29091147A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1336A>G (p.Asn446Asp)	11200	CHEK2	Uncertain significance	121908705	RCV000196666; RCV000114765; RCV000160437;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374; MedGen:CN221809	22	29091154	29091154	NM_007194.3:c.1336A>G	NP_009125.1:p.Asn446Asp	NC_000022.10:g.29091154T>C	-	C0346153 114480 Familial cancer of breast; CN221809 not provided; CN169374 not specified
NM_007194.3(CHEK2):c.1312G>T (p.Asp438Tyr)	11200	CHEK2	Uncertain significance	200050883	RCV000199565; RCV000200982; RCV000115996;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29091178	29091178	NM_007194.3:c.1312G>T	NP_009125.1:p.Asp438Tyr	NC_000022.10:g.29091178C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1283C>T (p.Ser428Phe)	11200	CHEK2	Pathogenic;risk factor	137853011	RCV000005953; RCV000197718; RCV000210180; RCV000212459; RCV000115994;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1858433; MedGen:CN068448; MedGen:CN221809	22	29091207	29091207	NM_007194.3:c.1283C>T	NP_009125.1:p.Ser428Phe	NC_000022.10:g.29091207G>A	OMIM Allelic Variant:604373.0014	C1858433 Breast and colorectal cancer, susceptibility to; CN068448 Breast cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.1270T>C (p.Tyr424His)	11200	CHEK2	Uncertain significance	139366548	RCV000197909; RCV000212458; RCV000115993;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29091220	29091220	NM_007194.3:c.1270T>C	NP_009125.1:p.Tyr424His	NC_000022.10:g.29091220A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1263delT (p.Ser422Valfs)	11200	CHEK2	Pathogenic	587780174	RCV000198820; RCV000212457; RCV000115992;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	22	29091227	29091227	NM_007194.3:c.1263delT	NP_009125.1:p.Ser422Valfs	NC_000022.10:g.29091227delA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.1260-8A>G	11200	CHEK2	Uncertain significance	863224747	RCV000196032;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29091238	29091238	NM_007194.3:c.1260-8A>G		NC_000022.10:g.29091238T>C	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.1260-10C>G	11200	CHEK2	Benign;Likely benign	730881706	RCV000199374; RCV000160459;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29091240	29091240	NM_007194.3:c.1260-10C>G		NC_000022.10:g.29091240G>C	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007194.3(CHEK2):c.1217G>A (p.Arg406His)	11200	CHEK2	Likely benign;Uncertain significance	200649225	RCV000197065; RCV000215450; RCV000132141;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29091740	29091740	NM_007194.3:c.1217G>A	NP_009125.1:p.Arg406His	NC_000022.10:g.29091740C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1215C>A (p.Asn405Lys)	11200	CHEK2	Uncertain significance	587780171	RCV000199599; RCV000219945; RCV000115989;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	22	29091742	29091742	NM_007194.3:c.1215C>A	NP_009125.1:p.Asn405Lys	NC_000022.10:g.29091742G>T	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.1176G>A (p.Ala392=)	11200	CHEK2	Likely benign	142692907	RCV000195525; RCV000163080;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29091781	29091781	NM_007194.3:c.1176G>A	NP_009125.1:p.Ala392=	NC_000022.10:g.29091781C>A,NC_000022.10:g.29091781C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.1175C>T (p.Ala392Val)	11200	CHEK2	Uncertain significance	373073383	RCV000206654; RCV000217234; RCV000129508;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29091782	29091782	NM_007194.3:c.1175C>T	NP_009125.1:p.Ala392Val	NC_000022.10:g.29091782G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1169A>C (p.Tyr390Ser)	11200	CHEK2	Likely pathogenic;Uncertain significance	200928781	RCV000206869; RCV000222009; RCV000130486;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	22	29091788	29091788	NM_007194.3:c.1169A>C	NP_009125.1:p.Tyr390Ser	NC_000022.10:g.29091788T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.1154G>A (p.Cys385Tyr)	11200	CHEK2	Uncertain significance	145324174	RCV000204142;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29091803	29091803	NM_007194.3:c.1154G>A	NP_009125.1:p.Cys385Tyr		-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.1153T>C (p.Cys385Arg)	11200	CHEK2	Uncertain significance	587782817	RCV000205294; RCV000216008; RCV000132390;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29091804	29091804	NM_007194.3:c.1153T>C	NP_009125.1:p.Cys385Arg	NC_000022.10:g.29091804A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1118A>G (p.Lys373Arg)	11200	CHEK2	Uncertain significance	786202446	RCV000204014; RCV000165259;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29091839	29091839	NM_007194.3:c.1118A>G	NP_009125.1:p.Lys373Arg	NC_000022.10:g.29091839T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.1111C>T (p.His371Tyr)	11200	CHEK2	Likely pathogenic;Uncertain significance	531398630	RCV000197709; RCV000212449; RCV000115982;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29091846	29091846	NM_007194.3:c.1111C>T	NP_009125.1:p.His371Tyr	NC_000022.10:g.29091846G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs)	11200	CHEK2	Pathogenic	555607708	RCV000123265; RCV000210137; RCV000212447; RCV000115980;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1858433; MedGen:CN221809	22	29091857	29091857	NM_007194.3:c.1100delC	NP_009125.1:p.Thr367Metfs	NC_000022.10:g.29091857delG	-	C1858433 Breast and colorectal cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.1070C>T (p.Ser357Phe)	11200	CHEK2	Uncertain significance	765425451	RCV000205218; RCV000221104;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	22	29092914	29092914	NM_007194.3:c.1070C>T	NP_009125.1:p.Ser357Phe		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.1039G>A (p.Asp347Asn)	11200	CHEK2	Likely pathogenic;Uncertain significance	28909980	RCV000205583; RCV000221549; RCV000160431;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	22	29092945	29092945	NM_007194.3:c.1039G>A	NP_009125.1:p.Asp347Asn	NC_000022.10:g.29092945C>T	-	C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.1037G>A (p.Arg346His)	11200	CHEK2	Uncertain significance	730881688	RCV000203780; RCV000212446; RCV000160430;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29092947	29092947	NM_007194.3:c.1037G>A	NP_009125.1:p.Arg346His	NC_000022.10:g.29092947C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1033C>T (p.His345Tyr)	11200	CHEK2	Uncertain significance	864622537	RCV000205862;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29092951	29092951	NM_007194.3:c.1033C>T	NP_009125.1:p.His345Tyr	NC_000022.10:g.29092951G>A	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.1028T>C (p.Ile343Thr)	11200	CHEK2	Uncertain significance	863224746	RCV000195910;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29092956	29092956	NM_007194.3:c.1028T>C	NP_009125.1:p.Ile343Thr	NC_000022.10:g.29092956A>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.1023C>T (p.Asn341=)	11200	CHEK2	Likely benign	377668478	RCV000199430; RCV000163051;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29092961	29092961	NM_007194.3:c.1023C>T	NP_009125.1:p.Asn341=	NC_000022.10:g.29092961G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.1012C>T (p.Leu338Phe)	11200	CHEK2	Uncertain significance	587782441	RCV000199485; RCV000131506;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29092972	29092972	NM_007194.3:c.1012C>T	NP_009125.1:p.Leu338Phe	NC_000022.10:g.29092972G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.1003G>C (p.Val335Leu)	11200	CHEK2	Uncertain significance	563752762	RCV000196907; RCV000222711;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29095831	29095831	NM_007194.3:c.1003G>C	NP_009125.1:p.Val335Leu	NC_000022.10:g.29095831C>G,NC_000022.10:g.29095831C>T	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007194.3(CHEK2):c.1000G>A (p.Ala334Thr)	11200	CHEK2	Uncertain significance	864622371	RCV000205766; RCV000215416;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	22	29095834	29095834	NM_007194.3:c.1000G>A	NP_009125.1:p.Ala334Thr		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.953G>T (p.Arg318Leu)	11200	CHEK2	Uncertain significance	143611747	RCV000200593;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29095881	29095881	NM_007194.3:c.953G>T	NP_009125.1:p.Arg318Leu	NC_000022.10:g.29095881C>A,NC_000022.10:g.29095881C>T	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.952C>T (p.Arg318Cys)	11200	CHEK2	Uncertain significance	148053495	RCV000205025; RCV000212442; RCV000116034;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29095882	29095882	NM_007194.3:c.952C>T	NP_009125.1:p.Arg318Cys	NC_000022.10:g.29095882G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.916G>A (p.Gly306Arg)	11200	CHEK2	Uncertain significance	587783051	RCV000144594;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29095918	29095918	NM_007194.3:c.916G>A	NP_009125.1:p.Gly306Arg	NC_000022.10:g.29095918C>T	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.914A>G (p.Glu305Gly)	11200	CHEK2	Uncertain significance	587783052	RCV000144595;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29095920	29095920	NM_007194.3:c.914A>G	NP_009125.1:p.Glu305Gly	NC_000022.10:g.29095920T>C	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.909-10T>G	11200	CHEK2	Likely benign	864622231	RCV000206282;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29095935	29095935	NM_007194.3:c.909-10T>G		NC_000022.10:g.29095935A>C	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.908+6T>C	11200	CHEK2	Uncertain significance	748988275	RCV000205660;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29099487	29099487	NM_007194.3:c.908+6T>C		NC_000022.10:g.29099487A>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.904G>A (p.Glu302Lys)	11200	CHEK2	Uncertain significance	587782460	RCV000199375; RCV000221531; RCV000131547;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29099497	29099497	NM_007194.3:c.904G>A	NP_009125.1:p.Glu302Lys	NC_000022.10:g.29099497C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.846+4_846+7delAGTA	11200	CHEK2	Uncertain significance	764884641	RCV000197064; RCV000222175;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	22	29105987	29105990	NM_007194.3:c.846+4_846+7delAGTA		NC_000022.10:g.29105987_29105990delTACT	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.846+1G>C	11200	CHEK2	Likely pathogenic	864622149	RCV000206880; RCV000218773;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	22	29105993	29105993	NM_007194.3:c.846+1G>C		NC_000022.10:g.29105993C>G	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.842A>G (p.Asn281Ser)	11200	CHEK2	Uncertain significance	587782196	RCV000206362; RCV000222277; RCV000130856;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29105998	29105998	NM_007194.3:c.842A>G	NP_009125.1:p.Asn281Ser	NC_000022.10:g.29105998T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.792+2T>C	11200	CHEK2	Likely pathogenic	545982789	RCV000205137;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29107895	29107895	NM_007194.3:c.792+2T>C		NC_000022.10:g.29107895A>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.751A>T (p.Ile251Phe)	11200	CHEK2	Uncertain significance	587780189	RCV000206871; RCV000212436; RCV000116030;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29107938	29107938	NM_007194.3:c.751A>T	NP_009125.1:p.Ile251Phe	NC_000022.10:g.29107938T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.742A>G (p.Ile248Val)	11200	CHEK2	Uncertain significance	779457035	RCV000198756;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29107947	29107947	NM_007194.3:c.742A>G	NP_009125.1:p.Ile248Val	NC_000022.10:g.29107947T>C	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.731A>C (p.Lys244Thr)	11200	CHEK2	Uncertain significance	587778193	RCV000196195;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29107958	29107958	NM_007194.3:c.731A>C	NP_009125.1:p.Lys244Thr	NC_000022.10:g.29107958T>C,NC_000022.10:g.29107958T>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.727T>C (p.Cys243Arg)	11200	CHEK2	Uncertain significance	141776984	RCV000205087; RCV000212435; RCV000129205;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29107962	29107962	NM_007194.3:c.727T>C	NP_009125.1:p.Cys243Arg	NC_000022.10:g.29107962A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.715G>A (p.Glu239Lys)	11200	CHEK2	Pathogenic;Uncertain significance	121908702	RCV000205850; RCV000005948; RCV000114762; RCV000212434; RCV000131201;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C4015779; MedGen:CN169374; MedGen:CN221809	22	29107974	29107974	NM_007194.3:c.715G>A	NP_009125.1:p.Glu239Lys	NC_000022.10:g.29107974C>A,NC_000022.10:g.29107974C>T	OMIM Allelic Variant:604373.0011	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C4015779 Prostate cancer, somatic
NM_007194.3(CHEK2):c.714C>T (p.Phe238=)	11200	CHEK2	Likely benign	864622322	RCV000205233;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29107975	29107975	NM_007194.3:c.714C>T	NP_009125.1:p.Phe238=	NC_000022.10:g.29107975G>A	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.707T>C (p.Leu236Pro)	11200	CHEK2	Likely benign;Uncertain significance	587782471	RCV000199653; RCV000212433; RCV000131577;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29107982	29107982	NM_007194.3:c.707T>C	NP_009125.1:p.Leu236Pro	NC_000022.10:g.29107982A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.688G>T (p.Ala230Ser)	11200	CHEK2	Uncertain significance	748636216	RCV000200524; RCV000166779;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29108001	29108001	NM_007194.3:c.688G>T	NP_009125.1:p.Ala230Ser	NC_000022.10:g.29108001C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.686G>C (p.Gly229Ala)	11200	CHEK2	Uncertain significance	778212685	RCV000198627;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29108003	29108003	NM_007194.3:c.686G>C	NP_009125.1:p.Gly229Ala	NC_000022.10:g.29108003C>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.683+10T>A	11200	CHEK2	Likely benign	747427230	RCV000197477;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29115373	29115373	NM_007194.3:c.683+10T>A		NC_000022.10:g.29115373A>T	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.683+1G>T	11200	CHEK2	Likely pathogenic	786203650	RCV000204794; RCV000216702; RCV000167053;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	22	29115382	29115382	NM_007194.3:c.683+1G>T		NC_000022.10:g.29115382C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.665T>C (p.Met222Thr)	11200	CHEK2	Uncertain significance	775134484	RCV000204561;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29115401	29115401	NM_007194.3:c.665T>C	NP_009125.1:p.Met222Thr	NC_000022.10:g.29115401A>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.664A>G (p.Met222Val)	11200	CHEK2	Uncertain significance	786203472	RCV000204804; RCV000166790;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29115402	29115402	NM_007194.3:c.664A>G	NP_009125.1:p.Met222Val	NC_000022.10:g.29115402T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.663C>G (p.Ile221Met)	11200	CHEK2	Uncertain significance	200451612	RCV000204676; RCV000212432; RCV000131415;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29115403	29115403	NM_007194.3:c.663C>G	NP_009125.1:p.Ile221Met	NC_000022.10:g.29115403G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.661A>G (p.Ile221Val)	11200	CHEK2	Uncertain significance	199749372	RCV000206722; RCV000129028;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29115405	29115405	NM_007194.3:c.661A>G	NP_009125.1:p.Ile221Val	NC_000022.10:g.29115405T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.613A>T (p.Thr205Ser)	11200	CHEK2	Uncertain significance	587780187	RCV000206150; RCV000116028;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29115453	29115453	NM_007194.3:c.613A>T	NP_009125.1:p.Thr205Ser	NC_000022.10:g.29115453T>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_007194.3(CHEK2):c.608A>G (p.Asp203Gly)	11200	CHEK2	Uncertain significance	587782813	RCV000203988; RCV000212431; RCV000132380;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29115458	29115458	NM_007194.3:c.608A>G	NP_009125.1:p.Asp203Gly	NC_000022.10:g.29115458T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.593-1G>T	11200	CHEK2	Likely pathogenic	786203229	RCV000195929;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29115474	29115474	NM_007194.3:c.593-1G>T		NC_000022.10:g.29115474C>A,NC_000022.10:g.29115474C>T	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.593-11_593-7delTTCTT	11200	CHEK2	Likely benign	863224414	RCV000198112;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29115480	29115484	NM_007194.3:c.593-11_593-7delTTCTT		NC_000022.10:g.29115480_29115484delAAGAA	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.591delA (p.Val198Phefs)	11200	CHEK2	Pathogenic	587782245	RCV000204563; RCV000130949;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29120966	29120966	NM_007194.3:c.591delA	NP_009125.1:p.Val198Phefs	NC_000022.10:g.29120966delT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.587A>G (p.Asn196Ser)	11200	CHEK2	Uncertain significance	863224751	RCV000196744;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29120970	29120970	NM_007194.3:c.587A>G	NP_009125.1:p.Asn196Ser	NC_000022.10:g.29120970T>C	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.578T>C (p.Leu193Pro)	11200	CHEK2	Uncertain significance	766599514	RCV000199633;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29120979	29120979	NM_007194.3:c.578T>C	NP_009125.1:p.Leu193Pro	NC_000022.10:g.29120979A>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.557A>G (p.Asn186Ser)	11200	CHEK2	Uncertain significance	369223840	RCV000206453; RCV000219155;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	22	29121000	29121000	NM_007194.3:c.557A>G	NP_009125.1:p.Asn186Ser		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.556A>C (p.Asn186His)	11200	CHEK2	Uncertain significance	146198085	RCV000198345; RCV000130733;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121001	29121001	NM_007194.3:c.556A>C	NP_009125.1:p.Asn186His	NC_000022.10:g.29121001T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.544C>A (p.Pro182Thr)	11200	CHEK2	Uncertain significance	786203973	RCV000207334; RCV000167508;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121013	29121013	NM_007194.3:c.544C>A	NP_009125.1:p.Pro182Thr	NC_000022.10:g.29121013G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.541C>T (p.Arg181Cys)	11200	CHEK2	Pathogenic;Uncertain significance	137853010	RCV000196466; RCV000005945; RCV000216866; RCV000164479;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C4015779; MedGen:CN169374	22	29121016	29121016	NM_007194.3:c.541C>T	NP_009125.1:p.Arg181Cys	NC_000022.10:g.29121016G>A,NC_000022.10:g.29121016G>C	OMIM Allelic Variant:604373.0008	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C4015779 Prostate cancer, somatic
NM_007194.3(CHEK2):c.539G>A (p.Arg180His)	11200	CHEK2	Pathogenic;Uncertain significance	137853009	RCV000206384; RCV000005944; RCV000212427; RCV000116025;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C4015779; MedGen:CN169374	22	29121018	29121018	NM_007194.3:c.539G>A	NP_009125.1:p.Arg180His	NC_000022.10:g.29121018C>T	OMIM Allelic Variant:604373.0007	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C4015779 Prostate cancer, somatic
NM_007194.3(CHEK2):c.538C>T (p.Arg180Cys)	11200	CHEK2	Likely benign;Uncertain significance	77130927	RCV000196561; RCV000212426; RCV000116024;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29121019	29121019	NM_007194.3:c.538C>T	NP_009125.1:p.Arg180Cys	NC_000022.10:g.29121019G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.533G>A (p.Gly178Glu)	11200	CHEK2	Uncertain significance	864622691	RCV000204617;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121024	29121024	NM_007194.3:c.533G>A	NP_009125.1:p.Gly178Glu	NC_000022.10:g.29121024C>T	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.499G>A (p.Gly167Arg)	11200	CHEK2	Likely pathogenic;Uncertain significance	72552322	RCV000200030; RCV000210071; RCV000212424; RCV000131700;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1858433; MedGen:CN221809	22	29121058	29121058	NM_007194.3:c.499G>A	NP_009125.1:p.Gly167Arg	NC_000022.10:g.29121058C>T	-	C1858433 Breast and colorectal cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.497A>G (p.Asn166Ser)	11200	CHEK2	Uncertain significance	587782413	RCV000197451; RCV000131455;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121060	29121060	NM_007194.3:c.497A>G	NP_009125.1:p.Asn166Ser	NC_000022.10:g.29121060T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del)	11200	CHEK2	Likely pathogenic;Uncertain significance	587782008	RCV000198423; RCV000210175; RCV000212423; RCV000130429;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1858433; MedGen:CN221809	22	29121072	29121074	NM_007194.3:c.483_485delAGA	NP_009125.1:p.Glu161del	NC_000022.10:g.29121072_29121074delTCT	-	C1858433 Breast and colorectal cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.480_483dupAGAA (p.Asp162Argfs)	11200	CHEK2	Pathogenic	864622453	RCV000206009;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121074	29121077	NM_007194.3:c.480_483dupAGAA	NP_009125.1:p.Asp162Argfs	NC_000022.10:g.29121074_29121077dupTTCT	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.480A>G (p.Ile160Met)	11200	CHEK2	Likely benign;Uncertain significance	575910805	RCV000199707; RCV000212422; RCV000116020;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29121077	29121077	NM_007194.3:c.480A>G	NP_009125.1:p.Ile160Met	NC_000022.10:g.29121077T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.479T>C (p.Ile160Thr)	11200	CHEK2	Uncertain significance	72552323	RCV000206788; RCV000166559;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121078	29121078	NM_007194.3:c.479T>C	NP_009125.1:p.Ile160Thr	NC_000022.10:g.29121078A>C,NC_000022.10:g.29121078A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.475T>C (p.Tyr159His)	11200	CHEK2	Uncertain significance	781254437	RCV000206006; RCV000215682; RCV000165429;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29121082	29121082	NM_007194.3:c.475T>C	NP_009125.1:p.Tyr159His	NC_000022.10:g.29121082A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.474A>C (p.Ala158=)	11200	CHEK2	Likely benign	745699485	RCV000206435; RCV000162779;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121083	29121083	NM_007194.3:c.474A>C	NP_009125.1:p.Ala158=	NC_000022.10:g.29121083T>C,NC_000022.10:g.29121083T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.473C>T (p.Ala158Val)	11200	CHEK2	Uncertain significance	864622351	RCV000203746;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121084	29121084	NM_007194.3:c.473C>T	NP_009125.1:p.Ala158Val	NC_000022.10:g.29121084G>A	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.470T>C (p.Ile157Thr)	11200	CHEK2	Likely pathogenic;Pathogenic;risk factor	17879961	RCV000144596; RCV000005939; RCV000005936; RCV000210131; RCV000005937; RCV000005938; RCV000212410; RCV000120555; RCV000116018;	Y	; MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1836482,OMIM:609265; MedGen:C1858433; MedGen:C1858438; MedGen:CN169374; MedGen:CN221809	22	29121087	29121087	NM_007194.3:c.470T>C	NP_009125.1:p.Ile157Thr	NC_000022.10:g.29121087A>G	OMIM Allelic Variant:604373.0002	C1858433 Breast and colorectal cancer, susceptibility to; C1858438 Colorectal cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; C1836482 609265 Li-Fraumeni syndrome 2; CN221809 not
NM_007194.3(CHEK2):c.444+5G>A	11200	CHEK2	Uncertain significance	189961251	RCV000206661; RCV000129580;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121226	29121226	NM_007194.3:c.444+5G>A		NC_000022.10:g.29121226C>G,NC_000022.10:g.29121226C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.444+5G>C	11200	CHEK2	Uncertain significance	189961251	RCV000206019;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121226	29121226	NM_007194.3:c.444+5G>C		NC_000022.10:g.29121226C>G,NC_000022.10:g.29121226C>T	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.444+1G>T	11200	CHEK2	Likely pathogenic;Pathogenic	121908698	RCV000199852; RCV000114770;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	22	29121230	29121230	NM_007194.3:c.444+1G>T		NC_000022.10:g.29121230C>A,NC_000022.10:g.29121230C>T	-	C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_007194.3(CHEK2):c.444+1G>A	11200	CHEK2	Pathogenic	121908698	RCV000196718; RCV000210090; RCV000212418; RCV000116017;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1858433; MedGen:CN221809	22	29121230	29121230	NM_007194.3:c.444+1G>A		NC_000022.10:g.29121230C>A,NC_000022.10:g.29121230C>T	-	C1858433 Breast and colorectal cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.434G>A (p.Arg145Gln)	11200	CHEK2	Uncertain significance	587781667	RCV000206197; RCV000129822;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121241	29121241	NM_007194.3:c.434G>A	NP_009125.1:p.Arg145Gln	NC_000022.10:g.29121241C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.433C>T (p.Arg145Trp)	11200	CHEK2	Likely pathogenic;Pathogenic	137853007	RCV000197612; RCV000005940; RCV000212417; RCV000120554; RCV000116016;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1836482,OMIM:609265; MedGen:CN169374; MedGen:CN221809	22	29121242	29121242	NM_007194.3:c.433C>T	NP_009125.1:p.Arg145Trp	NC_000022.10:g.29121242G>A	OMIM Allelic Variant:604373.0003	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; C1836482 609265 Li-Fraumeni syndrome 2; CN221809 not provided; CN169374 not specified
NM_007194.3(CHEK2):c.409_417delCGAACATAC (p.Arg137_Tyr139del)	11200	CHEK2	Uncertain significance	786203325	RCV000199899; RCV000166588;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121258	29121266	NM_007194.3:c.409_417delCGAACATAC	NP_009125.1:p.Arg137_Tyr139del	NC_000022.10:g.29121258_29121266delGTATGTTCG	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.410G>A (p.Arg137Gln)	11200	CHEK2	Likely benign	368570187	RCV000204285; RCV000116014;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121265	29121265	NM_007194.3:c.410G>A	NP_009125.1:p.Arg137Gln	NC_000022.10:g.29121265C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.405delA (p.Lys135Asnfs)	11200	CHEK2	Pathogenic	730881699	RCV000206058; RCV000160449;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121270	29121270	NM_007194.3:c.405delA	NP_009125.1:p.Lys135Asnfs	NC_000022.10:g.29121270delT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.377A>G (p.Asp126Gly)	11200	CHEK2	Uncertain significance	864622541	RCV000203958;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121298	29121298	NM_007194.3:c.377A>G	NP_009125.1:p.Asp126Gly	NC_000022.10:g.29121298T>C	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.349A>G (p.Arg117Gly)	11200	CHEK2	Likely pathogenic	28909982	RCV000204429; RCV000212414; RCV000116012;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	22	29121326	29121326	NM_007194.3:c.349A>G	NP_009125.1:p.Arg117Gly	NC_000022.10:g.29121326T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.322T>C (p.Cys108Arg)	11200	CHEK2	Uncertain significance	730881681	RCV000198019; RCV000212413; RCV000160423;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29121353	29121353	NM_007194.3:c.322T>C	NP_009125.1:p.Cys108Arg	NC_000022.10:g.29121353A>G,NC_000022.10:g.29121353A>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.320-1G>C	11200	CHEK2	Likely pathogenic	864622613	RCV000203880;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29121356	29121356	NM_007194.3:c.320-1G>C		NC_000022.10:g.29121356C>G	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.320-3C>A	11200	CHEK2	Uncertain significance	863224749	RCV000195464; RCV000219631;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	22	29121358	29121358	NM_007194.3:c.320-3C>A		NC_000022.10:g.29121358G>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.320-5T>A	11200	CHEK2	Likely benign;Uncertain significance	121908700	RCV000195943; RCV000119289; RCV000212412; RCV000116011;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374; MedGen:CN221809	22	29121360	29121360	NM_007194.3:c.320-5T>A		NC_000022.10:g.29121360A>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_007194.3(CHEK2):c.307T>C (p.Phe103Leu)	11200	CHEK2	Uncertain significance	587781669	RCV000204150; RCV000129825;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29130403	29130403	NM_007194.3:c.307T>C	NP_009125.1:p.Phe103Leu	NC_000022.10:g.29130403A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.279G>A (p.Trp93Ter)	11200	CHEK2	Pathogenic	587782070	RCV000199638; RCV000130559;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29130431	29130431	NM_007194.3:c.279G>A	NP_009125.1:p.Trp93Ter	NC_000022.10:g.29130431C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.277T>C (p.Trp93Arg)	11200	CHEK2	Uncertain significance	730881697	RCV000205700; RCV000212409; RCV000160447;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29130433	29130433	NM_007194.3:c.277T>C	NP_009125.1:p.Trp93Arg	NC_000022.10:g.29130433A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.277delT (p.Trp93Glyfs)	11200	CHEK2	Pathogenic	786203458	RCV000197766; RCV000223102; RCV000166773;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	22	29130433	29130433	NM_007194.3:c.277delT	NP_009125.1:p.Trp93Glyfs	NC_000022.10:g.29130433delA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.246_260delCCAAGAACCTGAGGA (p.Asp82_Glu86del)	11200	CHEK2	Uncertain significance	587780181	RCV000197398; RCV000212408; RCV000116010;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29130450	29130464	NM_007194.3:c.246_260delCCAAGAACCTGAGGA	NP_009125.1:p.Asp82_Glu86del	NC_000022.10:g.29130450_29130464delTCCTCAGGTTCTTGG	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.254C>T (p.Pro85Leu)	11200	CHEK2	Benign;Likely benign;Pathogenic	17883862	RCV000196893; RCV000005942; RCV000120551; RCV000132520;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0029463,OMIM:259500,ORPHA:668,SNOMED CT:21708004; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29130456	29130456	NM_007194.3:c.254C>T	NP_009125.1:p.Pro85Leu	NC_000022.10:g.29130456G>A	OMIM Allelic Variant:604373.0005	C1857588 217080 Cone-rod dystrophy amelogenesis imperfecta; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C0029463 259500 Osteosarcoma
NM_007194.3(CHEK2):c.247delC (p.Gln83Lysfs)	11200	CHEK2	Pathogenic	587782766	RCV000204969; RCV000220709; RCV000132293;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	22	29130463	29130463	NM_007194.3:c.247delC	NP_009125.1:p.Gln83Lysfs	NC_000022.10:g.29130463delG	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.194C>G (p.Thr65Arg)	11200	CHEK2	Uncertain significance	864622684	RCV000204519;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29130516	29130516	NM_007194.3:c.194C>G	NP_009125.1:p.Thr65Arg	NC_000022.10:g.29130516G>C	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.190G>A (p.Glu64Lys)	11200	CHEK2	Likely pathogenic;Uncertain significance	141568342	RCV000199067; RCV000210191; RCV000212407; RCV000116009;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1858433; MedGen:CN221809	22	29130520	29130520	NM_007194.3:c.190G>A	NP_009125.1:p.Glu64Lys	NC_000022.10:g.29130520C>T	-	C1858433 Breast and colorectal cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_007194.3(CHEK2):c.186C>T (p.Ser62=)	11200	CHEK2	Likely benign	786203025	RCV000206741; RCV000217910; RCV000166147;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29130524	29130524	NM_007194.3:c.186C>T	NP_009125.1:p.Ser62=	NC_000022.10:g.29130524G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.170C>T (p.Ser57Phe)	11200	CHEK2	Uncertain significance	730881695	RCV000197274; RCV000219585; RCV000160445;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	22	29130540	29130540	NM_007194.3:c.170C>T	NP_009125.1:p.Ser57Phe	NC_000022.10:g.29130540G>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.151C>T (p.Gln51Ter)	11200	CHEK2	Pathogenic	587781592	RCV000195906; RCV000129647;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29130559	29130559	NM_007194.3:c.151C>T	NP_009125.1:p.Gln51Ter	NC_000022.10:g.29130559G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_007194.3(CHEK2):c.146C>T (p.Ser49Phe)	11200	CHEK2	Uncertain significance	730881694	RCV000205611;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29130564	29130564	NM_007194.3:c.146C>T	NP_009125.1:p.Ser49Phe		-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.84C>A (p.Ser28=)	11200	CHEK2	Likely benign	863224415	RCV000196438; RCV000220881;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	22	29130626	29130626	NM_007194.3:c.84C>A	NP_009125.1:p.Ser28=	NC_000022.10:g.29130626G>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.15G>A (p.Ser5=)	11200	CHEK2	Likely benign	145183886	RCV000204321; RCV000214040;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	22	29130695	29130695	NM_007194.3:c.15G>A	NP_009125.1:p.Ser5=		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_007194.3(CHEK2):c.14C>T (p.Ser5Leu)	11200	CHEK2	Uncertain significance	201084748	RCV000196102; RCV000120550; RCV000129718;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29130696	29130696	NM_007194.3:c.14C>T	NP_009125.1:p.Ser5Leu	NC_000022.10:g.29130696G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.7C>T (p.Arg3Trp)	11200	CHEK2	Uncertain significance	199708878	RCV000200637; RCV000212406; RCV000131200;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29130703	29130703	NM_007194.3:c.7C>T	NP_009125.1:p.Arg3Trp	NC_000022.10:g.29130703G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_007194.3(CHEK2):c.1A>G (p.Met1Val)	11200	CHEK2	Uncertain significance	863224748	RCV000195519;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	22	29130709	29130709	NM_007194.3:c.1A>G	NP_009125.1:p.Met1Val	NC_000022.10:g.29130709T>C	-	C0346153 114480 Familial cancer of breast
NM_007194.3(CHEK2):c.-6G>A	11200	CHEK2	Likely benign;Uncertain significance	376995740	RCV000197200; RCV000115979;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	22	29130715	29130715	NM_007194.3:c.-6G>A		NC_000022.10:g.29130715C>T	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_005228.3(EGFR):c.2602G>A (p.Glu868Lys)	1956	EGFR	not provided	104886013	RCV000119351;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	7	55259544	55259544	NM_005228.3:c.2602G>A	NP_005219.2:p.Glu868Lys	NC_000007.13:g.55259544G>A	-	C0346153 114480 Familial cancer of breast
NM_001005862.2(ERBB2):c.2404-3C>T	2064	ERBB2	not provided	104886007	RCV000119345;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	37881299	37881299	NM_001005862.2:c.2404-3C>T		NC_000017.10:g.37881299C>T	-	C0346153 114480 Familial cancer of breast
NM_001005862.2(ERBB2):c.2430G>A (p.Arg810=)	2064	ERBB2	not provided	104886011	RCV000119347;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	37881328	37881328	NM_001005862.2:c.2430G>A	NP_001005862.1:p.Arg810=	NC_000017.10:g.37881328G>A	-	C0346153 114480 Familial cancer of breast
NM_001005862.2(ERBB2):c.2445C>T (p.Asp815=)	2064	ERBB2	not provided	137852788	RCV000119789;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	37881343	37881343	NM_001005862.2:c.2445C>T	NP_001005862.1:p.Asp815=	NC_000017.10:g.37881343C>T	-	C0346153 114480 Familial cancer of breast
NM_001005862.2(ERBB2):c.2478C>T (p.Pro826=)	2064	ERBB2	not provided	104886009	RCV000119348;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	37881376	37881376	NM_001005862.2:c.2478C>T	NP_001005862.1:p.Pro826=	NC_000017.10:g.37881376C>T	-	C0346153 114480 Familial cancer of breast
NM_001005862.2(ERBB2):c.3056G>A (p.Ser1019Asn)	2064	ERBB2	not provided	104886025	RCV000119365;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	37883243	37883243	NM_001005862.2:c.3056G>A	NP_001005862.1:p.Ser1019Asn	NC_000017.10:g.37883243G>A	-	C0346153 114480 Familial cancer of breast
NM_000125.3(ESR1):c.908A>G (p.Lys303Arg)	2099	ESR1	risk factor	796065354	RCV000190425;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	6	152265455	152265455	NM_000125.3:c.908A>G	NP_000116.2:p.Lys303Arg	NC_000006.11:g.152265455A>G	-	C0346153 114480 Familial cancer of breast
NM_001002295.1(GATA3):c.1032C>T (p.Leu344=)	2625	GATA3	not provided	104886017	RCV000119363;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	10	8111543	8111543	NM_001002295.1:c.1032C>T	NP_001002295.1:p.Leu344=	NC_000010.10:g.8111543C>T	-	C0346153 114480 Familial cancer of breast
NM_033360.3(KRAS):c.176C>T (p.Ala59Val)	3845	KRAS	not provided	104886029	RCV000119371;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	12	25380282	25380282	NM_033360.3:c.176C>T	NP_203524.1:p.Ala59Val	NC_000012.11:g.25380282G>A	-	C0346153 114480 Familial cancer of breast
m.14766C>T	4519	MT-CYB	Likely pathogenic	193302980	RCV000128802;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14766	14766	-	-	NC_012920.1:m.14766C>T	-	C0346153 114480 Familial cancer of breast
m.14783T>C	4519	MT-CYB	Likely pathogenic	193302982	RCV000128803;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14783	14783	-	-	NC_012920.1:m.14783T>C	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.14800C>T	4519	MT-CYB	Likely pathogenic	527236164	RCV000133406;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14800	14800	-	-	NC_012920.1:m.14800C>T	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.14891C>G	4519	MT-CYB	Likely pathogenic	386419981	RCV000133407;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14891	14891	-	-	NC_012920.1:m.14891C>G	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.14905G>A	4519	MT-CYB	Likely pathogenic	193302983	RCV000133450;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14905	14905	-	-	NC_012920.1:m.14905G>A	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.14935T>C	4519	MT-CYB	Likely pathogenic	527236204	RCV000133451;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14935	14935	-	-	NC_012920.1:m.14935T>C	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.14950C>T	4519	MT-CYB	Likely pathogenic	527236166	RCV000133408;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14950	14950	-	-	NC_012920.1:m.14950C>T	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.14968T>C	4519	MT-CYB	Likely pathogenic	527236167	RCV000133409;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14968	14968	-	-	NC_012920.1:m.14968T>C	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.14974C>G	4519	MT-CYB	Likely pathogenic	527236168	RCV000133410;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14974	14974	-	-	NC_012920.1:m.14974C>G	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15001T>C	4519	MT-CYB	Likely pathogenic	527236169	RCV000133411;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15001	15001	-	-	NC_012920.1:m.15001T>C	-	C0346153 114480 Familial cancer of breast
m.15043G>A	4519	MT-CYB	Likely pathogenic	193302985	RCV000128804;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15043	15043	-	-	NC_012920.1:m.15043G>A	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15049C>T	4519	MT-CYB	Likely pathogenic	527236170	RCV000133412;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15049	15049	-	-	NC_012920.1:m.15049C>T	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15214T>C	4519	MT-CYB	Likely pathogenic	527236173	RCV000133415;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15214	15214	-	-	NC_012920.1:m.15214T>C	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15226A>G	4519	MT-CYB	Likely pathogenic	527236174	RCV000133416;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15226	15226	-	-	NC_012920.1:m.15226A>G	-	C0346153 114480 Familial cancer of breast
m.15287T>C	4519	MT-CYB	Likely pathogenic	527236044	RCV000128805;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15287	15287	-	-	NC_012920.1:m.15287T>C	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15289T>C	4519	MT-CYB	Likely pathogenic	527236175	RCV000133417;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15289	15289	-	-	NC_012920.1:m.15289T>C	-	C0346153 114480 Familial cancer of breast
m.15301G>A	4519	MT-CYB	Likely pathogenic	193302991	RCV000128806;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15301	15301	-	-	NC_012920.1:m.15301G>A	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15323G>A	4519	MT-CYB	Likely pathogenic	527236177	RCV000133419;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15323	15323	-	-	NC_012920.1:m.15323G>A	-	C0346153 114480 Familial cancer of breast
m.15326A>G	4519	MT-CYB	Likely pathogenic	2853508	RCV000128807;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15326	15326	-	-	NC_012920.1:m.15326A>G	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15346G>A	4519	MT-CYB	Likely pathogenic	527236180	RCV000133422;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15346	15346	-	-	NC_012920.1:m.15346G>A	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15349C>A	4519	MT-CYB	Likely pathogenic	527236201	RCV000133423;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15349	15349	-	-	NC_012920.1:m.15349C>A	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15349C>T	4519	MT-CYB	Likely pathogenic	527236201	RCV000133424;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15349	15349	-	-	NC_012920.1:m.15349C>T	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15355G>A	4519	MT-CYB	Likely pathogenic	527236181	RCV000133425;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15355	15355	-	-	NC_012920.1:m.15355G>A	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15385C>T	4519	MT-CYB	Likely pathogenic	527236183	RCV000133427;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15385	15385	-	-	NC_012920.1:m.15385C>T	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15458T>C	4519	MT-CYB	Likely pathogenic	527236185	RCV000133429;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15458	15458	-	-	NC_012920.1:m.15458T>C	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15470T>C	4519	MT-CYB	Likely pathogenic	527236187	RCV000133431;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15470	15470	-	-	NC_012920.1:m.15470T>C	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15553G>A	4519	MT-CYB	Likely pathogenic	527236189	RCV000133433;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15553	15553	-	-	NC_012920.1:m.15553G>A	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15637C>T	4519	MT-CYB	Likely pathogenic	527236190	RCV000133434;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15637	15637	-	-	NC_012920.1:m.15637C>T	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15649A>G	4519	MT-CYB	Likely pathogenic	527236191	RCV000133435;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15649	15649	-	-	NC_012920.1:m.15649A>G	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15682A>G	4519	MT-CYB	Likely pathogenic	527236192	RCV000133436;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15682	15682	-	-	NC_012920.1:m.15682A>G	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15758A>G	4519	MT-CYB	Likely pathogenic	527236193	RCV000133437;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15758	15758	-	-	NC_012920.1:m.15758A>G	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15784T>C	4519	MT-CYB	Likely pathogenic	527236194	RCV000133438;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15784	15784	-	-	NC_012920.1:m.15784T>C	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.14732A>G	4556	MT-TE	Likely pathogenic	527236202	RCV000133449;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	14732	14732	-	-	NC_012920.1:m.14732A>G	-	C0346153 114480 Familial cancer of breast
NC_012920.1:m.15927G>A	4576	MT-TT	Likely pathogenic	193303002	RCV000133441;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	M	15927	15927	-	-	NC_012920.1:m.15927G>A	-	C0346153 114480 Familial cancer of breast
NM_006311.3(NCOR1):c.4707delT (p.Pro1570Glnfs)	9611	NCOR1	Uncertain significance	869025295	RCV000207335;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	15971242	15971242	NM_006311.3:c.4707delT	NP_006302.2:p.Pro1570Glnfs	NC_000017.10:g.15971242delA	-	C0346153 114480 Familial cancer of breast
NM_001080413.3(NOBOX):c.138C>A (p.Tyr46Ter)	135935	NOBOX	Uncertain significance	370043070	RCV000207333;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	7	144101721	144101721	NM_001080413.3:c.138C>A	NP_001073882.3:p.Tyr46Ter	NC_000007.13:g.144101721G>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.*347A>C	79728	PALB2	Likely benign	515726053	RCV000114436;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614433	23614433	NM_024675.3:c.*347A>C		NC_000016.9:g.23614433T>G	PALB2 database:PALB2_10172	C0346153 114480 Familial cancer of breast
PALB2:c.3202-?_*297del (p.Gly1068_Ser1186delins45)	79728	PALB2	Pathogenic	-1	RCV000114608; RCV000114607;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348	16	23614483	23619333	NM_024675.3:c.3202-?_*297del			PALB2 database:PALB2_10163	C0346153 114480 Familial cancer of breast; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.*232G>T	79728	PALB2	Likely benign	180748355	RCV000114435;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614548	23614548	NM_024675.3:c.*232G>T		NC_000016.9:g.23614548C>A	PALB2 database:PALB2_10171	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3351-?_*(1_?)del	79728	PALB2	Pathogenic	-1	RCV000168419;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614779	23614990	NM_024675.3:c.3351-?_*(1_?)del			-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2587-?_*(1_?)del	79728	PALB2	Pathogenic	-1	RCV000168323;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614779	23637718	NM_024675.3:c.2587-?_*(1_?)del			-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3202-?_*(1_?)del	79728	PALB2	Pathogenic	-1	RCV000205329; RCV000210201;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614779	23619333	NM_024675.3:c.3202-?_*(1_?)del			-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3114-?_*(1_?)del	79728	PALB2	Pathogenic	-1	RCV000204353;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614779	23625412	NM_024675.3:c.3114-?_*(1_?)del			-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter)	79728	PALB2	Likely pathogenic;Pathogenic;risk factor	118203998	RCV000001305; RCV000001304; RCV000114635; RCV000114634; RCV000212830; RCV000121742; RCV000129158;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1835817,OMIM:610832; MedGen:C3150547,OMIM:613348; MedGen:CN068448; MedGen:CN169374; MedGen:CN221809	16	23614792	23614792	NM_024675.3:c.3549C>G	NP_078951.2:p.Tyr1183Ter	NC_000016.9:g.23614792G>C,NC_000016.9:g.23614792G>T	Fanconi anemia database (FANCN):FANCN_00008,OMIM Allelic Variant:610355.0003,PALB2 database:PALB2_00008	CN068448 Breast cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C1835817 610832 Fanconi anemia, complementation group N; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified; C3150547 6
NM_024675.3(PALB2):c.3549C>A (p.Tyr1183Ter)	79728	PALB2	Pathogenic	118203998	RCV000200012; RCV000212831; RCV000116108;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23614792	23614792	NM_024675.3:c.3549C>A	NP_078951.2:p.Tyr1183Ter	NC_000016.9:g.23614792G>C,NC_000016.9:g.23614792G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.3539T>C (p.Ile1180Thr)	79728	PALB2	Uncertain significance	180177139	RCV000114633;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614802	23614802	NM_024675.3:c.3539T>C	NP_078951.2:p.Ile1180Thr	NC_000016.9:g.23614802A>G	PALB2 database:PALB2_10170	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3538A>G (p.Ile1180Val)	79728	PALB2	Uncertain significance	863224788	RCV000195715; RCV000216876;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23614803	23614803	NM_024675.3:c.3538A>G	NP_078951.2:p.Ile1180Val	NC_000016.9:g.23614803T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3507_3508delTC (p.His1170Phefs)	79728	PALB2	Likely pathogenic;Pathogenic	587776428	RCV000211073; RCV000133490; RCV000129272;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23614833	23614834	NM_024675.3:c.3507_3508delTC	NP_078951.2:p.His1170Phefs	NC_000016.9:g.23614833_23614834delGA	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.3497delG (p.Gly1166Valfs)	79728	PALB2	Pathogenic	180177138	RCV000114632; RCV000114631;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348	16	23614844	23614844	NM_024675.3:c.3497delG	NP_078951.2:p.Gly1166Valfs	NC_000016.9:g.23614844delC	PALB2 database:PALB2_10169	C0346153 114480 Familial cancer of breast; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=)	79728	PALB2	Benign;Likely benign	45439097	RCV000114630; RCV000212828; RCV000127303;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23614846	23614846	NM_024675.3:c.3495G>A	NP_078951.2:p.Ser1165=	NC_000016.9:g.23614846C>T	PALB2 database:PALB2_10168	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3:c.3495T>G	79728	PALB2	Likely benign	45439097	RCV000211056;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614846	23614846	-	-		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3483T>C (p.Phe1161=)	79728	PALB2	Likely benign	372686500	RCV000114629; RCV000163039;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614858	23614858	NM_024675.3:c.3483T>C	NP_078951.2:p.Phe1161=	NC_000016.9:g.23614858A>G	PALB2 database:PALB2_10203	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3473A>G (p.His1158Arg)	79728	PALB2	Uncertain significance	45505500	RCV000199321; RCV000217762;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23614868	23614868	NM_024675.3:c.3473A>G	NP_078951.2:p.His1158Arg	NC_000016.9:g.23614868T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3456dupA (p.Pro1153Thrfs)	79728	PALB2	Likely pathogenic;Pathogenic	587776426	RCV000200796; RCV000214210; RCV000133488; RCV000116106;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	16	23614885	23614885	NM_024675.3:c.3456dupA	NP_078951.2:p.Pro1153Thrfs	NC_000016.9:g.23614885dupT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3449T>G (p.Leu1150Arg)	79728	PALB2	Uncertain significance	45566737	RCV000211075; RCV000130657;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614892	23614892	NM_024675.3:c.3449T>G	NP_078951.2:p.Leu1150Arg	NC_000016.9:g.23614892A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3448C>T (p.Leu1150Phe)	79728	PALB2	Uncertain significance	863224787	RCV000198123;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614893	23614893	NM_024675.3:c.3448C>T	NP_078951.2:p.Leu1150Phe	NC_000016.9:g.23614893G>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3433G>C (p.Gly1145Arg)	79728	PALB2	Uncertain significance	180177137	RCV000114627;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614908	23614908	NM_024675.3:c.3433G>C	NP_078951.2:p.Gly1145Arg	NC_000016.9:g.23614908C>G,NC_000016.9:g.23614908C>T	PALB2 database:PALB2_10167	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His)	79728	PALB2	Uncertain significance	62625284	RCV000114625; RCV000116104;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614913	23614913	NM_024675.3:c.3428T>A	NP_078951.2:p.Leu1143His	NC_000016.9:g.23614913A>G,NC_000016.9:g.23614913A>T	PALB2 database:PALB2_10166	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3428T>C (p.Leu1143Pro)	79728	PALB2	Uncertain significance	62625284	RCV000114626;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614913	23614913	NM_024675.3:c.3428T>C	NP_078951.2:p.Leu1143Pro	NC_000016.9:g.23614913A>G,NC_000016.9:g.23614913A>T	PALB2 database:PALB2_10165	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3426dupA (p.Leu1143Thrfs)	79728	PALB2	Pathogenic	587776425	RCV000195604; RCV000133487;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23614915	23614915	NM_024675.3:c.3426dupA	NP_078951.2:p.Leu1143Thrfs	NC_000016.9:g.23614915dupT	-	C0346153 114480 Familial cancer of breast; CN221809 not provided
NM_024675.3(PALB2):c.3418T>G (p.Trp1140Gly)	79728	PALB2	Uncertain significance	62625283	RCV000195510; RCV000162652;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614923	23614923	NM_024675.3:c.3418T>G	NP_078951.2:p.Trp1140Gly	NC_000016.9:g.23614923A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3373G>T (p.Asp1125Tyr)	79728	PALB2	Uncertain significance	146444298	RCV000205701; RCV000220052;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23614968	23614968	NM_024675.3:c.3373G>T	NP_078951.2:p.Asp1125Tyr		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3367G>A (p.Val1123Met)	79728	PALB2	Uncertain significance	757118000	RCV000211079; RCV000164958;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614974	23614974	NM_024675.3:c.3367G>A	NP_078951.2:p.Val1123Met	NC_000016.9:g.23614974C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3366C>T (p.Asp1122=)	79728	PALB2	Likely benign	373783514	RCV000123342; RCV000164965;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614975	23614975	NM_024675.3:c.3366C>T	NP_078951.2:p.Asp1122=	NC_000016.9:g.23614975G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3366C>A (p.Asp1122Glu)	79728	PALB2	Uncertain significance	373783514	RCV000211062;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614975	23614975	NM_024675.3:c.3366C>A	NP_078951.2:p.Asp1122Glu		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3362delG (p.Gly1121Valfs)	79728	PALB2	Likely pathogenic;Pathogenic	515726117	RCV000114624; RCV000130740;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614979	23614979	NM_024675.3:c.3362delG	NP_078951.2:p.Gly1121Valfs	NC_000016.9:g.23614979delC	PALB2 database:PALB2_10208	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3356T>C (p.Leu1119Pro)	79728	PALB2	Uncertain significance	515726116	RCV000114623;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23614985	23614985	NM_024675.3:c.3356T>C	NP_078951.2:p.Leu1119Pro	NC_000016.9:g.23614985A>G	PALB2 database:PALB2_10164	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3350+16T>G	79728	PALB2	Likely benign	515726115	RCV000114620;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619169	23619169	NM_024675.3:c.3350+16T>G		NC_000016.9:g.23619169A>C	PALB2 database:PALB2_10162	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3350+11A>G	79728	PALB2	Likely benign	515726114	RCV000114619;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619174	23619174	NM_024675.3:c.3350+11A>G		NC_000016.9:g.23619174T>C	PALB2 database:PALB2_10161	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3350+4A>G	79728	PALB2	Pathogenic;Uncertain significance	180177136	RCV000114622; RCV000114621; RCV000213830;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1835817,OMIM:610832; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23619181	23619181	NM_024675.3:c.3350+4A>G		NC_000016.9:g.23619181T>C	Fanconi anemia database (FANCN):FANCN_00010,PALB2 database:PALB2_00010	C0346153 114480 Familial cancer of breast; C1835817 610832 Fanconi anemia, complementation group N; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3350+1G>A	79728	PALB2	Likely pathogenic	864622192	RCV000204129;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619184	23619184	NM_024675.3:c.3350+1G>A		NC_000016.9:g.23619184C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3331C>G (p.Pro1111Ala)	79728	PALB2	Uncertain significance	864622193	RCV000205952; RCV000222857;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23619204	23619204	NM_024675.3:c.3331C>G	NP_078951.2:p.Pro1111Ala		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3323delA (p.Tyr1108Serfs)	79728	PALB2	Pathogenic	180177135	RCV000114618; RCV000168157; RCV000132282;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1835817,OMIM:610832	16	23619212	23619212	NM_024675.3:c.3323delA	NP_078951.2:p.Tyr1108Serfs	NC_000016.9:g.23619212delT	Fanconi anemia database (FANCN):FANCN_00012,PALB2 database:PALB2_00012	C0346153 114480 Familial cancer of breast; C1835817 610832 Fanconi anemia, complementation group N; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3321G>A (p.Leu1107=)	79728	PALB2	Likely benign	515726113	RCV000114617;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619214	23619214	NM_024675.3:c.3321G>A	NP_078951.2:p.Leu1107=	16:g.23619214C>T	PALB2 database:PALB2_10202	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3320T>C (p.Leu1107Pro)	79728	PALB2	Uncertain significance	149194681	RCV000204289; RCV000131597;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619215	23619215	NM_024675.3:c.3320T>C	NP_078951.2:p.Leu1107Pro	NC_000016.9:g.23619215A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3310G>A (p.Gly1104Ser)	79728	PALB2	Uncertain significance	188254555	RCV000205794;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619225	23619225	NM_024675.3:c.3310G>A	NP_078951.2:p.Gly1104Ser	NC_000016.9:g.23619225C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met)	79728	PALB2	Uncertain significance	201657283	RCV000114616; RCV000212827; RCV000116103;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23619228	23619228	NM_024675.3:c.3307G>A	NP_078951.2:p.Val1103Met	NC_000016.9:g.23619228C>G,NC_000016.9:g.23619228C>T	PALB2 database:PALB2_10201	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.3306C>G (p.Ser1102Arg)	79728	PALB2	Uncertain significance	515726112	RCV000114615; RCV000216794;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23619229	23619229	NM_024675.3:c.3306C>G	NP_078951.2:p.Ser1102Arg	16:g.23619229G>C	PALB2 database:PALB2_10160	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=)	79728	PALB2	Benign;Likely benign	45516100	RCV000114614; RCV000114613; RCV000162360;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348	16	23619235	23619235	NM_024675.3:c.3300T>G	NP_078951.2:p.Thr1100=	NC_000016.9:g.23619235A>C	PALB2 database:PALB2_10159	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.3297G>A (p.Thr1099=)	79728	PALB2	Likely benign	45565738	RCV000199114; RCV000163669;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619238	23619238	NM_024675.3:c.3297G>A	NP_078951.2:p.Thr1099=	NC_000016.9:g.23619238C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3294G>A (p.Lys1098=)	79728	PALB2	Likely benign	875989796	RCV000211069;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619241	23619241	NM_024675.3:c.3294G>A	NP_078951.2:p.Lys1098=	NC_000016.9:g.23619241C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3290C>G (p.Pro1097Arg)	79728	PALB2	Uncertain significance	587781308	RCV000206496; RCV000129027;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619245	23619245	NM_024675.3:c.3290C>G	NP_078951.2:p.Pro1097Arg	NC_000016.9:g.23619245G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3286_3289delAACCinsGTTAATGA (p.Asn1096Valfs)	79728	PALB2	Pathogenic	587782337	RCV000206761; RCV000217334;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23619246	23619249	NM_024675.3:c.3286_3289delAACCinsGTTAATGA	NP_078951.2:p.Asn1096Valfs		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3278T>C (p.Ile1093Thr)	79728	PALB2	Uncertain significance	45616636	RCV000197231; RCV000223658; RCV000160854;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	16	23619257	23619257	NM_024675.3:c.3278T>C	NP_078951.2:p.Ile1093Thr	NC_000016.9:g.23619257A>G	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter)	79728	PALB2	Pathogenic	864622138	RCV000206656;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619264	23619264	NM_024675.3:c.3271C>T	NP_078951.2:p.Gln1091Ter	NC_000016.9:g.23619264G>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3260G>A (p.Ser1087Asn)	79728	PALB2	Uncertain significance	863224786	RCV000196033;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619275	23619275	NM_024675.3:c.3260G>A	NP_078951.2:p.Ser1087Asn	NC_000016.9:g.23619275C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3257G>A (p.Arg1086Gln)	79728	PALB2	Uncertain significance	146377793	RCV000203792; RCV000212826; RCV000130835;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23619278	23619278	NM_024675.3:c.3257G>A	NP_078951.2:p.Arg1086Gln	NC_000016.9:g.23619278C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter)	79728	PALB2	Likely pathogenic;Pathogenic;risk factor	587776527	RCV000114612; RCV000168017; RCV000212825; RCV000160853;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN221809	16	23619279	23619279	NM_024675.3:c.3256C>T	NP_078951.2:p.Arg1086Ter	NC_000016.9:g.23619279G>A	OMIM Allelic Variant:610355.0010,PALB2 database:PALB2_10200	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.3252G>A (p.Ser1084=)	79728	PALB2	Likely benign	141570833	RCV000114611; RCV000162543;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619283	23619283	NM_024675.3:c.3252G>A	NP_078951.2:p.Ser1084=	NC_000016.9:g.23619283C>T	PALB2 database:PALB2_10157	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu)	79728	PALB2	Uncertain significance	62625271	RCV000114610; RCV000174409; RCV000212824; RCV000160852;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374; MedGen:CN221809	16	23619284	23619284	NM_024675.3:c.3251C>T	NP_078951.2:p.Ser1084Leu	NC_000016.9:g.23619284G>A	PALB2 database:PALB2_10199	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; CN169374 not specified
NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp)	79728	PALB2	Benign;Uncertain significance	147045425	RCV000114609; RCV000212823; RCV000116102;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23619286	23619286	NM_024675.3:c.3249G>C	NP_078951.2:p.Glu1083Asp	NC_000016.9:g.23619286C>G	PALB2 database:PALB2_10198	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.3247G>A (p.Glu1083Lys)	79728	PALB2	Uncertain significance	747785029	RCV000196986;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619288	23619288	NM_024675.3:c.3247G>A	NP_078951.2:p.Glu1083Lys	NC_000016.9:g.23619288C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3209T>C (p.Leu1070Pro)	79728	PALB2	Uncertain significance	863224785	RCV000200608;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619326	23619326	NM_024675.3:c.3209T>C	NP_078951.2:p.Leu1070Pro	NC_000016.9:g.23619326A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3202-1G>C	79728	PALB2	Likely pathogenic;Pathogenic	515726111	RCV000114605; RCV000160851;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619334	23619334	NM_024675.3:c.3202-1G>C		16:g.23619334C>G	PALB2 database:PALB2_10152	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3202-9C>T	79728	PALB2	Likely benign	757444247	RCV000196913;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619342	23619342	NM_024675.3:c.3202-9C>T		NC_000016.9:g.23619342G>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3202-45A>G	79728	PALB2	Likely benign	370826543	RCV000114606;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23619378	23619378	NM_024675.3:c.3202-45A>G		NC_000016.9:g.23619378T>C	PALB2 database:PALB2_10156	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3201+1125T>C	79728	PALB2	Uncertain significance	515726109	RCV000114601;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23624200	23624200	NM_024675.3:c.3201+1125T>C		16:g.23624200A>G	PALB2 database:PALB2_10155	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3201+115T>C	79728	PALB2	Likely benign	515726110	RCV000114603;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625210	23625210	NM_024675.3:c.3201+115T>C		16:g.23625210A>G	PALB2 database:PALB2_10207	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3201+112A>G	79728	PALB2	Uncertain significance	376034945	RCV000114602;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625213	23625213	NM_024675.3:c.3201+112A>G		NC_000016.9:g.23625213T>C	PALB2 database:PALB2_10154	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3201+96G>A	79728	PALB2	Likely benign	373044186	RCV000114604;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625229	23625229	NM_024675.3:c.3201+96G>A		NC_000016.9:g.23625229C>T	PALB2 database:PALB2_10153	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3172T>G (p.Ser1058Ala)	79728	PALB2	Uncertain significance	863224784	RCV000198725;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625354	23625354	NM_024675.3:c.3172T>G	NP_078951.2:p.Ser1058Ala	NC_000016.9:g.23625354A>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3146T>C (p.Met1049Thr)	79728	PALB2	Uncertain significance	138273800	RCV000204730; RCV000130431;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625380	23625380	NM_024675.3:c.3146T>C	NP_078951.2:p.Met1049Thr	NC_000016.9:g.23625380A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3143A>G (p.Lys1048Arg)	79728	PALB2	Uncertain significance	515726107	RCV000114599;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625383	23625383	NM_024675.3:c.3143A>G	NP_078951.2:p.Lys1048Arg	16:g.23625383T>C	PALB2 database:PALB2_10197	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3128G>C (p.Gly1043Ala)	79728	PALB2	Uncertain significance	377713277	RCV000114598; RCV000131630;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625398	23625398	NM_024675.3:c.3128G>C	NP_078951.2:p.Gly1043Ala	NC_000016.9:g.23625398C>G	PALB2 database:PALB2_10151	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs)	79728	PALB2	Likely pathogenic;Pathogenic;risk factor	180177133	RCV000001309; RCV000114596; RCV000114597; RCV000114595; RCV000131150;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1835817,OMIM:610832; MedGen:C3150547,OMIM:613348; MedGen:CN068448	16	23625410	23625410	NM_024675.3:c.3116delA	NP_078951.2:p.Asn1039Ilefs	NC_000016.9:g.23625410delT	Fanconi anemia database (FANCN):FANCN_00014,OMIM Allelic Variant:610355.0005,OMIM Allelic Variant:610355.0009,PALB2 database:PALB2_00014	CN068448 Breast cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C1835817 610832 Fanconi anemia, complementation group N; C0027672 Hereditary cancer-predisposing syndrome; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.3114-40T>G	79728	PALB2	Likely benign	515726105	RCV000114592;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625452	23625452	NM_024675.3:c.3114-40T>G		NC_000016.9:g.23625452A>C	PALB2 database:PALB2_10146	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3114-42G>T	79728	PALB2	Likely benign	515726106	RCV000114593; RCV000208880;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625454	23625454	NM_024675.3:c.3114-42G>T		NC_000016.9:g.23625454C>A	PALB2 database:PALB2_10147	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3114-51T>A	79728	PALB2	Likely benign	249936	RCV000114594;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23625463	23625463	NM_024675.3:c.3114-51T>A		NC_000016.9:g.23625463A>T	PALB2 database:PALB2_10148	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3113+131G>T	79728	PALB2	Likely benign	150730533	RCV000114590;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23632552	23632552	NM_024675.3:c.3113+131G>T		NC_000016.9:g.23632552C>A	PALB2 database:PALB2_10149	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter)	79728	PALB2	Likely pathogenic;Pathogenic;Uncertain significance;risk fac	180177132	RCV000144703; RCV000114591; RCV000212822; RCV000116096;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN068448; MedGen:CN221809	16	23632683	23632683	NM_024675.3:c.3113G>A	NP_078951.2:p.Trp1038Ter	NC_000016.9:g.23632683C>T	OMIM Allelic Variant:610355.0013,PALB2 database:PALB2_10150	CN068448 Breast cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.3106G>C (p.Val1036Leu)	79728	PALB2	Uncertain significance	756906403	RCV000168000; RCV000216674;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23632690	23632690	NM_024675.3:c.3106G>C	NP_078951.2:p.Val1036Leu	NC_000016.9:g.23632690C>G	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3103A>G (p.Ile1035Val)	79728	PALB2	Uncertain significance	863224783	RCV000196785; RCV000220160;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23632693	23632693	NM_024675.3:c.3103A>G	NP_078951.2:p.Ile1035Val	NC_000016.9:g.23632693T>A,NC_000016.9:g.23632693T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3103A>T (p.Ile1035Phe)	79728	PALB2	Uncertain significance	863224783	RCV000205673;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23632693	23632693	NM_024675.3:c.3103A>T	NP_078951.2:p.Ile1035Phe		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3073G>A (p.Ala1025Thr)	79728	PALB2	Uncertain significance	746872839	RCV000202108; RCV000213208;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23632723	23632723	NM_024675.3:c.3073G>A	NP_078951.2:p.Ala1025Thr		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.3059A>G (p.Gln1020Arg)	79728	PALB2	Uncertain significance	776221283	RCV000206051;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23632737	23632737	NM_024675.3:c.3059A>G	NP_078951.2:p.Gln1020Arg	NC_000016.9:g.23632737T>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.3056T>C (p.Val1019Ala)	79728	PALB2	Uncertain significance	376619846	RCV000114589; RCV000131550;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23632740	23632740	NM_024675.3:c.3056T>C	NP_078951.2:p.Val1019Ala	NC_000016.9:g.23632740A>G	PALB2 database:PALB2_10145	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp)	79728	PALB2	Likely benign;Uncertain significance	183489969	RCV000114588; RCV000212821; RCV000130354;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23632742	23632742	NM_024675.3:c.3054G>C	NP_078951.2:p.Glu1018Asp	NC_000016.9:g.23632742C>G	PALB2 database:PALB2_10144	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.3048delT (p.Phe1016Leufs)	79728	PALB2	Pathogenic	515726104	RCV000114587; RCV000129785;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23632748	23632748	NM_024675.3:c.3048delT	NP_078951.2:p.Phe1016Leufs	NC_000016.9:g.23632748delA	PALB2 database:PALB2_10143	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.3026delC (p.Pro1009Leufs)	79728	PALB2	Pathogenic	180177131	RCV000114586; RCV000133484; RCV000160811;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23632770	23632770	NM_024675.3:c.3026delC	NP_078951.2:p.Pro1009Leufs	NC_000016.9:g.23632770delG	PALB2 database:PALB2_10142	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.3024C>T (p.Pro1008=)	79728	PALB2	Likely benign	180177130	RCV000114585;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23632772	23632772	NM_024675.3:c.3024C>T	NP_078951.2:p.Pro1008=	NC_000016.9:g.23632772G>A	PALB2 database:PALB2_10141	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2997-9T>C	79728	PALB2	Likely benign	765733708	RCV000198637;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23632808	23632808	NM_024675.3:c.2997-9T>C		NC_000016.9:g.23632808A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2997-624G>C	79728	PALB2	Benign	447529	RCV000114584;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23633423	23633423	NM_024675.3:c.2997-624G>C		NC_000016.9:g.23633423C>G	PALB2 database:PALB2_10140	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2996+183delA	79728	PALB2	Likely benign	199767268	RCV000114582;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634107	23634107	NM_024675.3:c.2996+183delA		NC_000016.9:g.23634107delT	PALB2 database:PALB2_10139	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2996+124C>T	79728	PALB2	Likely benign	151026179	RCV000114580;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634166	23634166	NM_024675.3:c.2996+124C>T		NC_000016.9:g.23634166G>A	PALB2 database:PALB2_10138	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2996+58T>C	79728	PALB2	Likely benign	180177129	RCV000114583;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634232	23634232	NM_024675.3:c.2996+58T>C		NC_000016.9:g.23634232A>G	PALB2 database:PALB2_10137	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2996+17T>C	79728	PALB2	Benign;Likely benign	180177128	RCV000114581; RCV000212820; RCV000127301;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23634273	23634273	NM_024675.3:c.2996+17T>C		NC_000016.9:g.23634273A>G	PALB2 database:PALB2_10136	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2996+9delA	79728	PALB2	Likely benign	769414858	RCV000197031;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634281	23634281	NM_024675.3:c.2996+9delA		NC_000016.9:g.23634281delT	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu)	79728	PALB2	Benign;Likely benign	45551636	RCV000114579; RCV000114578; RCV000121762; RCV000127300;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN169374	16	23634293	23634293	NM_024675.3:c.2993G>A	NP_078951.2:p.Gly998Glu	NC_000016.9:g.23634293C>T	PALB2 database:PALB2_10135	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.2982dupT (p.Ala995Cysfs)	79728	PALB2	Likely pathogenic;Pathogenic	180177127	RCV000114576; RCV000213482;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23634304	23634304	NM_024675.3:c.2982dupT	NP_078951.2:p.Ala995Cysfs	NC_000016.9:g.23634304dupA	PALB2 database:PALB2_10134	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2966_2967insCAACAAGT (p.Glu990Asnfs)	79728	PALB2	Likely pathogenic	875989792	RCV000211065;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634319	23634320	NM_024675.3:c.2966_2967insCAACAAGT	NP_078951.2:p.Glu990Asnfs	NC_000016.9:g.23634319_23634320insACTTGTTG	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2955T>G (p.Ser985=)	79728	PALB2	Likely benign	765643734	RCV000200287; RCV000163267;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634331	23634331	NM_024675.3:c.2955T>G	NP_078951.2:p.Ser985=	NC_000016.9:g.23634331A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2947A>T (p.Thr983Ser)	79728	PALB2	Uncertain significance	587782211	RCV000206313; RCV000130889;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634339	23634339	NM_024675.3:c.2947A>T	NP_078951.2:p.Thr983Ser	NC_000016.9:g.23634339T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2935A>C (p.Ser979Arg)	79728	PALB2	Uncertain significance	751227032	RCV000198507;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634351	23634351	NM_024675.3:c.2935A>C	NP_078951.2:p.Ser979Arg	NC_000016.9:g.23634351T>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2931dupA (p.Val978Serfs)	79728	PALB2	Pathogenic	587782570	RCV000195468; RCV000222458; RCV000131794;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23634355	23634355	NM_024675.3:c.2931dupA	NP_078951.2:p.Val978Serfs	NC_000016.9:g.23634355dupT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2920_2923delAAGA (p.Lys974Glyfs)	79728	PALB2	Pathogenic	786204122	RCV000168075;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634363	23634366	NM_024675.3:c.2920_2923delAAGA	NP_078951.2:p.Lys974Glyfs	NC_000016.9:g.23634363_23634366delTCTT	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2922G>T (p.Lys974Asn)	79728	PALB2	Uncertain significance	730881892	RCV000205333; RCV000160849;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23634364	23634364	NM_024675.3:c.2922G>T	NP_078951.2:p.Lys974Asn	NC_000016.9:g.23634364C>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.2920_2921delAA (p.Lys974Glufs)	79728	PALB2	Pathogenic	180177126	RCV000114575; RCV000133483; RCV000132234;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23634365	23634366	-	-	NC_000016.9:g.23634365_23634366delTT	PALB2 database:PALB2_10133	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.2903C>G (p.Ala968Gly)	79728	PALB2	Likely benign;Uncertain significance	369132015	RCV000114574; RCV000215879; RCV000131197;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23634383	23634383	NM_024675.3:c.2903C>G	NP_078951.2:p.Ala968Gly	NC_000016.9:g.23634383G>C	PALB2 database:PALB2_10132	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2899A>C (p.Lys967Gln)	79728	PALB2	Uncertain significance	864622525	RCV000205092;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634387	23634387	NM_024675.3:c.2899A>C	NP_078951.2:p.Lys967Gln	NC_000016.9:g.23634387T>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr)	79728	PALB2	Uncertain significance;association	587780214	RCV000204848; RCV000212819; RCV000116094; RCV000202384;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3539878; MedGen:CN169374	16	23634389	23634389	NM_024675.3:c.2897T>C	NP_078951.2:p.Ile966Thr	NC_000016.9:g.23634389A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C3539878 Triple-negative breast cancer
NM_024675.3(PALB2):c.2896A>G (p.Ile966Val)	79728	PALB2	Uncertain significance	786204248	RCV000168443; RCV000220514;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23634390	23634390	NM_024675.3:c.2896A>G	NP_078951.2:p.Ile966Val	NC_000016.9:g.23634390T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2882T>C (p.Leu961Pro)	79728	PALB2	Uncertain significance	786203248	RCV000196629; RCV000166475;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634404	23634404	NM_024675.3:c.2882T>C	NP_078951.2:p.Leu961Pro	NC_000016.9:g.23634404A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2881C>T (p.Leu961=)	79728	PALB2	Benign;Likely benign	61755166	RCV000198809; RCV000166333;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634405	23634405	NM_024675.3:c.2881C>T	NP_078951.2:p.Leu961=	NC_000016.9:g.23634405G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2869A>C (p.Lys957Gln)	79728	PALB2	Uncertain significance	515726103	RCV000114573; RCV000212818; RCV000160848;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23634417	23634417	NM_024675.3:c.2869A>C	NP_078951.2:p.Lys957Gln	NC_000016.9:g.23634417T>G	PALB2 database:PALB2_10131	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2865T>A (p.Ser955Arg)	79728	PALB2	Uncertain significance	515726102	RCV000114572;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634421	23634421	NM_024675.3:c.2865T>A	NP_078951.2:p.Ser955Arg	16:g.23634421A>T	PALB2 database:PALB2_10196	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2859T>C (p.Asp953=)	79728	PALB2	Likely benign	515726101	RCV000114571;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634427	23634427	NM_024675.3:c.2859T>C	NP_078951.2:p.Asp953=	NC_000016.9:g.23634427A>G	PALB2 database:PALB2_10195	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro)	79728	PALB2	Likely benign;Uncertain significance	149522412	RCV000114570; RCV000121763; RCV000129725;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23634435	23634435	NM_024675.3:c.2851T>C	NP_078951.2:p.Ser951Pro	NC_000016.9:g.23634435A>G	PALB2 database:PALB2_10130	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2837C>G (p.Ala946Gly)	79728	PALB2	Uncertain significance	515726100	RCV000114569;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634449	23634449	NM_024675.3:c.2837C>G	NP_078951.2:p.Ala946Gly	16:g.23634449G>C	PALB2 database:PALB2_10194	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2835-1G>C	79728	PALB2	Likely pathogenic	515726099	RCV000114567; RCV000220116;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23634452	23634452	NM_024675.3:c.2835-1G>C		NC_000016.9:g.23634452C>G,NC_000016.9:g.23634452C>T	PALB2 database:PALB2_10127	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2835-1G>A	79728	PALB2	Likely pathogenic	515726099	RCV000168057;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634452	23634452	NM_024675.3:c.2835-1G>A		NC_000016.9:g.23634452C>G,NC_000016.9:g.23634452C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2835-27C>T	79728	PALB2	Likely benign	199757736	RCV000114568;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23634478	23634478	NM_024675.3:c.2835-27C>T		NC_000016.9:g.23634478G>A	PALB2 database:PALB2_10128	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2834+21_2834+27del	79728	PALB2	Uncertain significance	515726098	RCV000114566;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635303	23635309	NM_024675.3:c.2834+21_2834+27del			PALB2 database:PALB2_10217	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2834+20T>G	79728	PALB2	Likely benign	515726097	RCV000114565;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635310	23635310	NM_024675.3:c.2834+20T>G		16:g.23635310A>C	PALB2 database:PALB2_10129	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2834+12C>T	79728	PALB2	Likely benign	515726096	RCV000114564;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635318	23635318	NM_024675.3:c.2834+12C>T		16:g.23635318G>A	PALB2 database:PALB2_10216	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2834+2T>G	79728	PALB2	Likely pathogenic	864622481	RCV000205865;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635328	23635328	NM_024675.3:c.2834+2T>G		NC_000016.9:g.23635328A>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2823C>A (p.Ile941=)	79728	PALB2	Likely benign	515726095	RCV000114563;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635341	23635341	NM_024675.3:c.2823C>A	NP_078951.2:p.Ile941=	16:g.23635341G>T	PALB2 database:PALB2_10193	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp)	79728	PALB2	Benign;Likely benign;Uncertain significance	45478192	RCV000114562; RCV000114561; RCV000116092;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348	16	23635348	23635348	NM_024675.3:c.2816T>G	NP_078951.2:p.Leu939Trp	NC_000016.9:g.23635348A>C	PALB2 database:PALB2_10126	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.2810G>A (p.Gly937Glu)	79728	PALB2	Uncertain significance	786202641	RCV000206821; RCV000165549;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635354	23635354	NM_024675.3:c.2810G>A	NP_078951.2:p.Gly937Glu	NC_000016.9:g.23635354C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2794G>A (p.Val932Met)	79728	PALB2	Benign;Likely benign	45624036	RCV000114560; RCV000114559; RCV000121760; RCV000116090;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN169374	16	23635370	23635370	NM_024675.3:c.2794G>A	NP_078951.2:p.Val932Met	NC_000016.9:g.23635370C>T	PALB2 database:PALB2_10125	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu)	79728	PALB2	Uncertain significance	180177125	RCV000114558; RCV000129279;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635391	23635391	NM_024675.3:c.2773G>C	NP_078951.2:p.Val925Leu	NC_000016.9:g.23635391C>G	PALB2 database:PALB2_10124	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2763G>C (p.Gln921His)	79728	PALB2	Uncertain significance	372931676	RCV000198606;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635401	23635401	NM_024675.3:c.2763G>C	NP_078951.2:p.Gln921His	NC_000016.9:g.23635401C>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2761C>T (p.Gln921Ter)	79728	PALB2	Pathogenic	180177124	RCV000114557;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635403	23635403	NM_024675.3:c.2761C>T	NP_078951.2:p.Gln921Ter	NC_000016.9:g.23635403G>A	PALB2 database:PALB2_10123	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2755G>A (p.Val919Ile)	79728	PALB2	Uncertain significance	775193384	RCV000211057;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635409	23635409	NM_024675.3:c.2755G>A	NP_078951.2:p.Val919Ile	NC_000016.9:g.23635409C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2753C>A (p.Pro918Gln)	79728	PALB2	Uncertain significance	587780822	RCV000123341; RCV000220315;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23635411	23635411	NM_024675.3:c.2753C>A	NP_078951.2:p.Pro918Gln	NC_000016.9:g.23635411G>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2752C>T (p.Pro918Ser)	79728	PALB2	Uncertain significance	515726094	RCV000114556; RCV000165106;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23635412	23635412	NM_024675.3:c.2752C>T	NP_078951.2:p.Pro918Ser	16:g.23635412G>A	PALB2 database:PALB2_10192	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2749-18C>T	79728	PALB2	Benign;Likely benign;Uncertain significance	182194007	RCV000114555; RCV000212817; RCV000127298;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23635433	23635433	NM_024675.3:c.2749-18C>T		NC_000016.9:g.23635433G>A	PALB2 database:PALB2_10120	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2748+121T>C	79728	PALB2	Likely benign	515726093	RCV000114554;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637436	23637436	NM_024675.3:c.2748+121T>C		NC_000016.9:g.23637436A>G	PALB2 database:PALB2_10121	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2748+9delG	79728	PALB2	Likely benign	863224430	RCV000198769;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637548	23637548	NM_024675.3:c.2748+9delG		NC_000016.9:g.23637548delC	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2742C>T (p.Phe914=)	79728	PALB2	Benign;Likely benign	115759702	RCV000196595; RCV000212816; RCV000127297;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23637563	23637563	NM_024675.3:c.2742C>T	NP_078951.2:p.Phe914=	NC_000016.9:g.23637563G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2732C>T (p.Thr911Ile)	79728	PALB2	Uncertain significance	180177123	RCV000114553; RCV000160845;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23637573	23637573	NM_024675.3:c.2732C>T	NP_078951.2:p.Thr911Ile	NC_000016.9:g.23637573G>A	PALB2 database:PALB2_10122	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.2718G>A (p.Trp906Ter)	79728	PALB2	Pathogenic	180177122	RCV000114552;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637587	23637587	NM_024675.3:c.2718G>A	NP_078951.2:p.Trp906Ter	NC_000016.9:g.23637587C>T	PALB2 database:PALB2_10118	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2686dupT (p.Ser896Phefs)	79728	PALB2	Pathogenic	515726091	RCV000114550;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637619	23637619	NM_024675.3:c.2686dupT	NP_078951.2:p.Ser896Phefs		PALB2 database:PALB2_10117	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys)	79728	PALB2	Uncertain significance	45476495	RCV000114549; RCV000131257;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637631	23637631	NM_024675.3:c.2674G>A	NP_078951.2:p.Glu892Lys	NC_000016.9:g.23637631C>T	PALB2 database:PALB2_10215	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2671T>A (p.Cys891Ser)	79728	PALB2	Uncertain significance	786204208	RCV000168304;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637634	23637634	NM_024675.3:c.2671T>A	NP_078951.2:p.Cys891Ser	NC_000016.9:g.23637634A>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2661C>A (p.Ile887=)	79728	PALB2	Likely benign	180177120	RCV000114548;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637644	23637644	NM_024675.3:c.2661C>A	NP_078951.2:p.Ile887=	NC_000016.9:g.23637644G>T	PALB2 database:PALB2_10116	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2640C>T (p.Ala880=)	79728	PALB2	Likely benign	752928633	RCV000196557;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637665	23637665	NM_024675.3:c.2640C>T	NP_078951.2:p.Ala880=	NC_000016.9:g.23637665G>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2619T>G (p.Ser873Arg)	79728	PALB2	Uncertain significance	587782387	RCV000199659; RCV000131395;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637686	23637686	NM_024675.3:c.2619T>G	NP_078951.2:p.Ser873Arg	NC_000016.9:g.23637686A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2612A>G (p.Asp871Gly)	79728	PALB2	Uncertain significance	515726090	RCV000114547;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637693	23637693	NM_024675.3:c.2612A>G	NP_078951.2:p.Asp871Gly	NC_000016.9:g.23637693T>C	PALB2 database:PALB2_10115	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2607C>T (p.Ser869=)	79728	PALB2	Benign;Likely benign	45542234	RCV000123340; RCV000212814; RCV000127296;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23637698	23637698	NM_024675.3:c.2607C>T	NP_078951.2:p.Ser869=	NC_000016.9:g.23637698G>A,NC_000016.9:g.23637698G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2607C>A (p.Ser869=)	79728	PALB2	Benign;Likely benign	45542234	RCV000200410; RCV000160819;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23637698	23637698	NM_024675.3:c.2607C>A	NP_078951.2:p.Ser869=	NC_000016.9:g.23637698G>A,NC_000016.9:g.23637698G>T	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.2606C>G (p.Ser869Cys)	79728	PALB2	Uncertain significance	779279139	RCV000211067;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637699	23637699	NM_024675.3:c.2606C>G	NP_078951.2:p.Ser869Cys	NC_000016.9:g.23637699G>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2597G>T (p.Gly866Val)	79728	PALB2	Uncertain significance	62625279	RCV000167868;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637708	23637708	NM_024675.3:c.2597G>T	NP_078951.2:p.Gly866Val	NC_000016.9:g.23637708C>A,NC_000016.9:g.23637708C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2597delG (p.Gly866Valfs)	79728	PALB2	Pathogenic	786204156	RCV000168153;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637708	23637708	NM_024675.3:c.2597delG	NP_078951.2:p.Gly866Valfs	NC_000016.9:g.23637708delC	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser)	79728	PALB2	Benign;Likely benign	45568339	RCV000114546; RCV000114545; RCV000121759; RCV000116089;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN169374	16	23637715	23637715	NM_024675.3:c.2590C>T	NP_078951.2:p.Pro864Ser	NC_000016.9:g.23637715G>A	PALB2 database:PALB2_10114	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.2587-37G>C	79728	PALB2	Likely benign	180177118	RCV000114541;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637755	23637755	NM_024675.3:c.2587-37G>C		NC_000016.9:g.23637755C>G	PALB2 database:PALB2_10112	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2587-38C>G	79728	PALB2	Likely benign	180177119	RCV000114542;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637756	23637756	NM_024675.3:c.2587-38C>G		NC_000016.9:g.23637756G>C	PALB2 database:PALB2_10113	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2587-59T>C	79728	PALB2	Likely benign	371085248	RCV000114543;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23637777	23637777	NM_024675.3:c.2587-59T>C		NC_000016.9:g.23637777A>G	PALB2 database:PALB2_10214	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2586+81C>T	79728	PALB2	Likely benign	114710547	RCV000114540;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640444	23640444	NM_024675.3:c.2586+81C>T		NC_000016.9:g.23640444G>A	PALB2 database:PALB2_10109	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2586+58C>T	79728	PALB2	Benign	249954	RCV000114539;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640467	23640467	NM_024675.3:c.2586+58C>T		NC_000016.9:g.23640467G>A	PALB2 database:PALB2_10110	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2586+31T>G	79728	PALB2	Likely benign	180177117	RCV000114538;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640494	23640494	NM_024675.3:c.2586+31T>G		NC_000016.9:g.23640494A>C	PALB2 database:PALB2_10111	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2586+10A>G	79728	PALB2	Benign;Likely benign;Uncertain significance	373321719	RCV000114537; RCV000127295;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23640515	23640515	NM_024675.3:c.2586+10A>G		NC_000016.9:g.23640515T>C	PALB2 database:PALB2_10213	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.2571G>A (p.Leu857=)	79728	PALB2	Likely benign	587780821	RCV000123339;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640540	23640540	NM_024675.3:c.2571G>A	NP_078951.2:p.Leu857=	NC_000016.9:g.23640540C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2561A>G (p.Asn854Ser)	79728	PALB2	Uncertain significance	146455175	RCV000203889;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640550	23640550	NM_024675.3:c.2561A>G	NP_078951.2:p.Asn854Ser	NC_000016.9:g.23640550T>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2559C>T (p.Gly853=)	79728	PALB2	Likely pathogenic;Uncertain significance	180177115	RCV000114536; RCV000212813; RCV000116088;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23640552	23640552	NM_024675.3:c.2559C>T	NP_078951.2:p.Gly853=	NC_000016.9:g.23640552G>A	PALB2 database:PALB2_10108	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.2543A>G (p.Asp848Gly)	79728	PALB2	Uncertain significance	762129437	RCV000197723;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640568	23640568	NM_024675.3:c.2543A>G	NP_078951.2:p.Asp848Gly	NC_000016.9:g.23640568T>C	-	C0346153 114480 Familial cancer of breast
PALB2:c.2515-1G>T	79728	PALB2	Likely pathogenic;Pathogenic;risk factor	587776417	RCV000001312; RCV000114532; RCV000133479;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN221809	16	23640597	23640597	NM_024675.3:c.2515-1G>T		NC_000016.9:g.23640597C>A,NC_000016.9:g.23640597C>G	OMIM Allelic Variant:610355.0008,PALB2 database:PALB2_10212	C0346153 114480 Familial cancer of breast; CN221809 not provided; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.2515-1G>C	79728	PALB2	Likely pathogenic	587776417	RCV000198016;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640597	23640597	NM_024675.3:c.2515-1G>C		NC_000016.9:g.23640597C>A,NC_000016.9:g.23640597C>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2515-24A>G	79728	PALB2	Likely benign	515726089	RCV000114534; RCV000114533;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348	16	23640620	23640620	NM_024675.3:c.2515-24A>G		16:g.23640620T>C	PALB2 database:PALB2_10107	C0346153 114480 Familial cancer of breast; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.2514+71delC	79728	PALB2	Likely benign	180177114	RCV000114531;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640890	23640890	NM_024675.3:c.2514+71delC		NC_000016.9:g.23640890delG	PALB2 database:PALB2_10106	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2514+3A>G	79728	PALB2	Uncertain significance	515726088	RCV000114530; RCV000160843;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23640958	23640958	NM_024675.3:c.2514+3A>G		NC_000016.9:g.23640958T>C	PALB2 database:PALB2_10105	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.2506G>T (p.Val836Phe)	79728	PALB2	Uncertain significance	536644825	RCV000195841;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640969	23640969	NM_024675.3:c.2506G>T	NP_078951.2:p.Val836Phe	NC_000016.9:g.23640969C>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2484C>T (p.Cys828=)	79728	PALB2	Likely benign	875989798	RCV000211068;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640991	23640991	NM_024675.3:c.2484C>T	NP_078951.2:p.Cys828=	NC_000016.9:g.23640991G>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2478C>T (p.Asn826=)	79728	PALB2	Likely benign	786201885	RCV000206600; RCV000164395;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23640997	23640997	NM_024675.3:c.2478C>T	NP_078951.2:p.Asn826=	NC_000016.9:g.23640997G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2474G>C (p.Arg825Thr)	79728	PALB2	Likely benign;Uncertain significance	146218439	RCV000198186; RCV000165079;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641001	23641001	NM_024675.3:c.2474G>C	NP_078951.2:p.Arg825Thr	NC_000016.9:g.23641001C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2470dupT (p.Cys824Leufs)	79728	PALB2	Pathogenic	863224521	RCV000199043; RCV000215206;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23641005	23641005	NM_024675.3:c.2470dupT	NP_078951.2:p.Cys824Leufs	NC_000016.9:g.23641005dupA	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2469C>A (p.Leu823=)	79728	PALB2	Likely benign	515726087	RCV000114529;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641006	23641006	NM_024675.3:c.2469C>A	NP_078951.2:p.Leu823=	16:g.23641006G>T	PALB2 database:PALB2_10191	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2469C>G (p.Leu823=)	79728	PALB2	Likely benign	515726087	RCV000205616;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641006	23641006	NM_024675.3:c.2469C>G	NP_078951.2:p.Leu823=		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2442G>A (p.Glu814=)	79728	PALB2	Benign;Likely benign	140776736	RCV000114528; RCV000212812; RCV000160818;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641033	23641033	NM_024675.3:c.2442G>A	NP_078951.2:p.Glu814=	NC_000016.9:g.23641033C>T	PALB2 database:PALB2_10104	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2417C>T (p.Pro806Leu)	79728	PALB2	Uncertain significance	45464991	RCV000204760; RCV000129403;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641058	23641058	NM_024675.3:c.2417C>T	NP_078951.2:p.Pro806Leu	NC_000016.9:g.23641058G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2401G>A (p.Asp801Asn)	79728	PALB2	Uncertain significance	587782765	RCV000167989; RCV000132292;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641074	23641074	NM_024675.3:c.2401G>A	NP_078951.2:p.Asp801Asn	NC_000016.9:g.23641074C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2391delA (p.Gln797Hisfs)	79728	PALB2	Likely pathogenic;Pathogenic	515726086	RCV000114525; RCV000210140;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641084	23641084	-	-		PALB2 database:PALB2_10190	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2386G>T (p.Gly796Ter)	79728	PALB2	Likely pathogenic;Pathogenic	180177112	RCV000114524; RCV000129116;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641089	23641089	NM_024675.3:c.2386G>T	NP_078951.2:p.Gly796Ter	NC_000016.9:g.23641089C>A	PALB2 database:PALB2_10102	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2379C>T (p.Gly793=)	79728	PALB2	Likely benign;Uncertain significance	377626805	RCV000200135; RCV000212811; RCV000116084;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641096	23641096	NM_024675.3:c.2379C>T	NP_078951.2:p.Gly793=	NC_000016.9:g.23641096G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2365C>T (p.Leu789=)	79728	PALB2	Benign;Likely benign	145805054	RCV000114523; RCV000212810; RCV000160817;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641110	23641110	NM_024675.3:c.2365C>T	NP_078951.2:p.Leu789=	NC_000016.9:g.23641110G>A	PALB2 database:PALB2_10101	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2360C>T (p.Thr787Ile)	79728	PALB2	Uncertain significance	201042302	RCV000197564; RCV000216753;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23641115	23641115	NM_024675.3:c.2360C>T	NP_078951.2:p.Thr787Ile	NC_000016.9:g.23641115G>A	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2337A>C (p.Ser779=)	79728	PALB2	Likely benign	786201651	RCV000211059; RCV000164043;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641138	23641138	NM_024675.3:c.2337A>C	NP_078951.2:p.Ser779=	NC_000016.9:g.23641138T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2329G>A (p.Asp777Asn)	79728	PALB2	Uncertain significance	148026749	RCV000204167; RCV000212809; RCV000160841;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641146	23641146	NM_024675.3:c.2329G>A	NP_078951.2:p.Asp777Asn	NC_000016.9:g.23641146C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2328C>T (p.Phe776=)	79728	PALB2	Likely benign	45508997	RCV000211085; RCV000223186;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23641147	23641147	NM_024675.3:c.2328C>T	NP_078951.2:p.Phe776=		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2323C>T (p.Gln775Ter)	79728	PALB2	Pathogenic;risk factor	180177111	RCV000144702; RCV000114521; RCV000164897;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN068448	16	23641152	23641152	NM_024675.3:c.2323C>T	NP_078951.2:p.Gln775Ter	NC_000016.9:g.23641152G>A	OMIM Allelic Variant:610355.0012,PALB2 database:PALB2_10100	CN068448 Breast cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2301C>A (p.Val767=)	79728	PALB2	Likely benign	515726084	RCV000114520;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641174	23641174	NM_024675.3:c.2301C>A	NP_078951.2:p.Val767=	16:g.23641174G>T	PALB2 database:PALB2_10099	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe)	79728	PALB2	Uncertain significance	373478248	RCV000123338; RCV000212808; RCV000130052;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641186	23641186	NM_024675.3:c.2289G>C	NP_078951.2:p.Leu763Phe	NC_000016.9:g.23641186C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2275C>A (p.Gln759Lys)	79728	PALB2	Uncertain significance	515726083	RCV000114518;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641200	23641200	NM_024675.3:c.2275C>A	NP_078951.2:p.Gln759Lys	16:g.23641200G>T	PALB2 database:PALB2_10098	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2258G>A (p.Arg753Gln)	79728	PALB2	Uncertain significance	587778586	RCV000195647; RCV000121757;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641217	23641217	NM_024675.3:c.2258G>A	NP_078951.2:p.Arg753Gln	NC_000016.9:g.23641217C>T	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.2256A>G (p.Gly752=)	79728	PALB2	Benign;Likely benign	147120218	RCV000114517; RCV000212806; RCV000130422;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641219	23641219	NM_024675.3:c.2256A>G	NP_078951.2:p.Gly752=	NC_000016.9:g.23641219T>C	PALB2 database:PALB2_10097	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2244A>G (p.Thr748=)	79728	PALB2	Likely benign	750048627	RCV000211088; RCV000163058;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641231	23641231	NM_024675.3:c.2244A>G	NP_078951.2:p.Thr748=	NC_000016.9:g.23641231T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2229T>C (p.Tyr743=)	79728	PALB2	Likely benign	730881888	RCV000199909; RCV000219447;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23641246	23641246	NM_024675.3:c.2229T>C	NP_078951.2:p.Tyr743=	NC_000016.9:g.23641246A>G,NC_000016.9:g.23641246A>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys)	79728	PALB2	Likely benign;Uncertain significance	141749524	RCV000197626; RCV000164010;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641247	23641247	NM_024675.3:c.2228A>G	NP_078951.2:p.Tyr743Cys	NC_000016.9:g.23641247T>A,NC_000016.9:g.23641247T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2208C>A (p.Ala736=)	79728	PALB2	Likely benign	369113809	RCV000204026; RCV000164661;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641267	23641267	NM_024675.3:c.2208C>A	NP_078951.2:p.Ala736=	NC_000016.9:g.23641267G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2205A>G (p.Pro735=)	79728	PALB2	Likely benign	515726082	RCV000114516;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641270	23641270	NM_024675.3:c.2205A>G	NP_078951.2:p.Pro735=	16:g.23641270T>C	PALB2 database:PALB2_10096	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2200A>T (p.Thr734Ser)	79728	PALB2	Uncertain significance	45543843	RCV000114515; RCV000212807; RCV000116081;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641275	23641275	NM_024675.3:c.2200A>T	NP_078951.2:p.Thr734Ser	NC_000016.9:g.23641275T>A	PALB2 database:PALB2_10095	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2178T>C (p.Pro726=)	79728	PALB2	Likely benign	863224429	RCV000196097;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641297	23641297	NM_024675.3:c.2178T>C	NP_078951.2:p.Pro726=	NC_000016.9:g.23641297A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2176C>T (p.Pro726Ser)	79728	PALB2	Uncertain significance	566813395	RCV000197340;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641299	23641299	NM_024675.3:c.2176C>T	NP_078951.2:p.Pro726Ser	NC_000016.9:g.23641299G>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2167_2168delAT (p.Met723Valfs)	79728	PALB2	Pathogenic	587776416	RCV000123337; RCV000133478; RCV000129400;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23641307	23641308	NM_024675.3:c.2167_2168delAT	NP_078951.2:p.Met723Valfs	NC_000016.9:g.23641307_23641308delAT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.2145_2146delTA (p.Asp715Glufs)	79728	PALB2	Pathogenic	515726081	RCV000114513;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641329	23641330	NM_024675.3:c.2145_2146delTA	NP_078951.2:p.Asp715Glufs		PALB2 database:PALB2_10004	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2140G>A (p.Asp714Asn)	79728	PALB2	Uncertain significance	45537237	RCV000195423;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641335	23641335	NM_024675.3:c.2140G>A	NP_078951.2:p.Asp714Asn	NC_000016.9:g.23641335C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val)	79728	PALB2	Benign;Likely benign	141458731	RCV000114512; RCV000116080;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641340	23641340	NM_024675.3:c.2135C>T	NP_078951.2:p.Ala712Val	NC_000016.9:g.23641340G>A	PALB2 database:PALB2_10093	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2106A>G (p.Ile702Met)	79728	PALB2	Uncertain significance	730881886	RCV000211076; RCV000212805; RCV000160837;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641369	23641369	NM_024675.3:c.2106A>G	NP_078951.2:p.Ile702Met	NC_000016.9:g.23641369T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.2100A>T (p.Ser700=)	79728	PALB2	Likely benign	757145884	RCV000200038; RCV000164155;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641375	23641375	NM_024675.3:c.2100A>T	NP_078951.2:p.Ser700=	NC_000016.9:g.23641375T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2091C>A (p.Gly697=)	79728	PALB2	Likely benign	875989797	RCV000211080;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641384	23641384	NM_024675.3:c.2091C>A	NP_078951.2:p.Gly697=	NC_000016.9:g.23641384G>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2087C>T (p.Thr696Met)	79728	PALB2	Uncertain significance	587780820	RCV000123336; RCV000132543;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641388	23641388	NM_024675.3:c.2087C>T	NP_078951.2:p.Thr696Met	NC_000016.9:g.23641388G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2082A>G (p.Thr694=)	79728	PALB2	Likely benign	781440401	RCV000205968; RCV000162752;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641393	23641393	NM_024675.3:c.2082A>G	NP_078951.2:p.Thr694=	NC_000016.9:g.23641393T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2067G>A (p.Ser689=)	79728	PALB2	Benign;Likely benign	371149159	RCV000197495; RCV000165391;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641408	23641408	NM_024675.3:c.2067G>A	NP_078951.2:p.Ser689=	NC_000016.9:g.23641408C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2031T>C (p.Val677=)	79728	PALB2	Likely benign	864622756	RCV000204811;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641444	23641444	NM_024675.3:c.2031T>C	NP_078951.2:p.Val677=	NC_000016.9:g.23641444A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.2027T>C (p.Ile676Thr)	79728	PALB2	Benign;Likely benign;Uncertain significance	200875161	RCV000195981; RCV000131362;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641448	23641448	NM_024675.3:c.2027T>C	NP_078951.2:p.Ile676Thr	NC_000016.9:g.23641448A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln)	79728	PALB2	Benign;Likely benign	45532440	RCV000114505; RCV000114504; RCV000121756; RCV000127292;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN169374	16	23641461	23641461	NM_024675.3:c.2014G>C	NP_078951.2:p.Glu672Gln	NC_000016.9:g.23641461C>G	PALB2 database:PALB2_10092	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656Glnfs)	79728	PALB2	Pathogenic	786204129	RCV000168094;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641508	23641509	NM_024675.3:c.1966_1967insAGAGGAAGCTGTATTTTTC	NP_078951.2:p.Pro656Glnfs	NC_000016.9:g.23641508_23641509insGAAAAATACAGCTTCCTCT	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1947_1966dup20 (p.Pro656Glnfs)	79728	PALB2	Likely pathogenic	786204129	RCV000211063;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641509	23641528	NM_024675.3:c.1947_1966dup20	NP_078951.2:p.Pro656Glnfs		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1947dupA (p.Glu650Argfs)	79728	PALB2	Likely pathogenic;Pathogenic	515726075	RCV000114502;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641528	23641528	NM_024675.3:c.1947dupA	NP_078951.2:p.Glu650Argfs		PALB2 database:PALB2_10189	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1935G>A (p.Glu645=)	79728	PALB2	Likely benign	141707455	RCV000114501; RCV000167184;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641540	23641540	NM_024675.3:c.1935G>A	NP_078951.2:p.Glu645=	NC_000016.9:g.23641540C>T	PALB2 database:PALB2_10188	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1931G>A (p.Gly644Glu)	79728	PALB2	Uncertain significance	875989794	RCV000211083;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641544	23641544	NM_024675.3:c.1931G>A	NP_078951.2:p.Gly644Glu	NC_000016.9:g.23641544C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1882_1890delAAGTCCTGC (p.Lys628_Cys630del)	79728	PALB2	Uncertain significance	587778583	RCV000123335; RCV000121753;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641585	23641593	NM_024675.3:c.1882_1890delAAGTCCTGC	NP_078951.2:p.Lys628_Cys630del	NC_000016.9:g.23641585_23641593delGCAGGACTT	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.1881G>T (p.Val627=)	79728	PALB2	Benign;Likely benign	139362268	RCV000114500; RCV000212802; RCV000127291;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641594	23641594	NM_024675.3:c.1881G>T	NP_078951.2:p.Val627=	NC_000016.9:g.23641594C>A,NC_000016.9:g.23641594C>T	PALB2 database:PALB2_10091	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1863T>C (p.Pro621=)	79728	PALB2	Likely benign	587780819	RCV000123334;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641612	23641612	NM_024675.3:c.1863T>C	NP_078951.2:p.Pro621=	NC_000016.9:g.23641612A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1848T>C (p.Asp616=)	79728	PALB2	Likely benign	863224428	RCV000199475;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641627	23641627	NM_024675.3:c.1848T>C	NP_078951.2:p.Asp616=	NC_000016.9:g.23641627A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1839G>A (p.Gln613=)	79728	PALB2	Likely benign	199682414	RCV000197939; RCV000214157;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23641636	23641636	NM_024675.3:c.1839G>A	NP_078951.2:p.Gln613=	NC_000016.9:g.23641636C>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.1810C>T (p.Leu604=)	79728	PALB2	Benign;Likely benign	144015319	RCV000114499; RCV000212801; RCV000160816;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641665	23641665	NM_024675.3:c.1810C>T	NP_078951.2:p.Leu604=	NC_000016.9:g.23641665G>A	PALB2 database:PALB2_10090	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1805A>T (p.Gln602Leu)	79728	PALB2	Uncertain significance	864622768	RCV000204088;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641670	23641670	NM_024675.3:c.1805A>T	NP_078951.2:p.Gln602Leu	NC_000016.9:g.23641670T>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1794G>A (p.Leu598=)	79728	PALB2	Likely benign	182494675	RCV000206106; RCV000219903;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23641681	23641681	NM_024675.3:c.1794G>A	NP_078951.2:p.Leu598=		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.1792C>T (p.Leu598=)	79728	PALB2	Likely benign	746702349	RCV000195746;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641683	23641683	NM_024675.3:c.1792C>T	NP_078951.2:p.Leu598=	NC_000016.9:g.23641683G>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1790T>G (p.Met597Arg)	79728	PALB2	Uncertain significance	786203214	RCV000168192; RCV000166427;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641685	23641685	NM_024675.3:c.1790T>G	NP_078951.2:p.Met597Arg	NC_000016.9:g.23641685A>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1758T>C (p.Asp586=)	79728	PALB2	Likely benign	864622567	RCV000205497;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641717	23641717	NM_024675.3:c.1758T>C	NP_078951.2:p.Asp586=	NC_000016.9:g.23641717A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1748T>G (p.Leu583Trp)	79728	PALB2	Uncertain significance	587782151	RCV000198999; RCV000130719;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641727	23641727	NM_024675.3:c.1748T>G	NP_078951.2:p.Leu583Trp	NC_000016.9:g.23641727A>C,NC_000016.9:g.23641727A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1743A>G (p.Leu581=)	79728	PALB2	Likely benign	180177105	RCV000114498; RCV000220391;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23641732	23641732	NM_024675.3:c.1743A>G	NP_078951.2:p.Leu581=	NC_000016.9:g.23641732T>C	PALB2 database:PALB2_10083	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr)	79728	PALB2	Uncertain significance	370422990	RCV000114495; RCV000212800; RCV000116072;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23641776	23641776	NM_024675.3:c.1699C>T	NP_078951.2:p.His567Tyr	NC_000016.9:g.23641776G>A	PALB2 database:PALB2_10082	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1691A>G (p.Lys564Arg)	79728	PALB2	Uncertain significance	62625276	RCV000197146; RCV000165968;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641784	23641784	NM_024675.3:c.1691A>G	NP_078951.2:p.Lys564Arg	NC_000016.9:g.23641784T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1685-58C>A	79728	PALB2	Likely benign	180177108	RCV000114493;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641848	23641848	NM_024675.3:c.1685-58C>A		NC_000016.9:g.23641848G>T	PALB2 database:PALB2_10088	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1685-70T>G	79728	PALB2	Likely benign	180177109	RCV000114494;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23641860	23641860	NM_024675.3:c.1685-70T>G		NC_000016.9:g.23641860A>C	PALB2 database:PALB2_10089	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1684+1597T>C	79728	PALB2	Benign	16940342	RCV000114488;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23644586	23644586	NM_024675.3:c.1684+1597T>C		NC_000016.9:g.23644586A>G	PALB2 database:PALB2_10084	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1684+42_1684+43insTGA	79728	PALB2	Likely benign	180177106	RCV000114492;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646140	23646141	NM_024675.3:c.1684+42_1684+43insTGA		NC_000016.9:g.23646140_23646141insTCA	PALB2 database:PALB2_10086	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1684+39_1684+41del	79728	PALB2	Likely benign	368593832	RCV000114490;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646142	23646144	NM_024675.3:c.1684+39_1684+41del		NC_000016.9:g.23646142_23646144delTCA	PALB2 database:PALB2_10087	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1684+39_1684+41dup	79728	PALB2	Likely benign	515726074	RCV000114491;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646142	23646144	NM_024675.3:c.1684+39_1684+41dup		NC_000016.9:g.23646142_23646144dupTCA	PALB2 database:PALB2_10211	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1684+29A>G	79728	PALB2	Benign	74320059	RCV000114489; RCV000210759;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646154	23646154	NM_024675.3:c.1684+29A>G		NC_000016.9:g.23646154T>C	PALB2 database:PALB2_10085	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg)	79728	PALB2	Benign;Likely benign	152451	RCV000114486; RCV000121747; RCV000128962;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646191	23646191	NM_024675.3:c.1676A>G	NP_078951.2:p.Gln559Arg	NC_000016.9:g.23646191T>C	PALB2 database:PALB2_10081	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1659C>A (p.His553Gln)	79728	PALB2	Uncertain significance	370318597	RCV000168288;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646208	23646208	NM_024675.3:c.1659C>A	NP_078951.2:p.His553Gln	NC_000016.9:g.23646208G>C,NC_000016.9:g.23646208G>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1656G>A (p.Gln552=)	79728	PALB2	Likely benign	180177104	RCV000114485;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646211	23646211	NM_024675.3:c.1656G>A	NP_078951.2:p.Gln552=	NC_000016.9:g.23646211C>T	PALB2 database:PALB2_10080	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1647C>A (p.His549Gln)	79728	PALB2	Uncertain significance	747842085	RCV000203956; RCV000219639;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23646220	23646220	NM_024675.3:c.1647C>A	NP_078951.2:p.His549Gln		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.1641C>T (p.Thr547=)	79728	PALB2	Benign;Likely benign	564514783	RCV000198904; RCV000212799; RCV000160824;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646226	23646226	NM_024675.3:c.1641C>T	NP_078951.2:p.Thr547=	NC_000016.9:g.23646226G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1637T>C (p.Val546Ala)	79728	PALB2	Uncertain significance	148647206	RCV000123333; RCV000215046;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23646230	23646230	NM_024675.3:c.1637T>C	NP_078951.2:p.Val546Ala	NC_000016.9:g.23646230A>G	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.1633G>T (p.Glu545Ter)	79728	PALB2	Pathogenic	180177103	RCV000114484; RCV000131237;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646234	23646234	NM_024675.3:c.1633G>T	NP_078951.2:p.Glu545Ter	NC_000016.9:g.23646234C>A	PALB2 database:PALB2_10079	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1623G>A (p.Arg541=)	79728	PALB2	Likely benign	745665968	RCV000204373; RCV000162458;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646244	23646244	NM_024675.3:c.1623G>A	NP_078951.2:p.Arg541=	NC_000016.9:g.23646244C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu)	79728	PALB2	Uncertain significance	142103232	RCV000168207; RCV000220923; RCV000160871;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	16	23646257	23646257	NM_024675.3:c.1610C>T	NP_078951.2:p.Ser537Leu	NC_000016.9:g.23646257G>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.1606C>T (p.Leu536=)	79728	PALB2	Benign;Likely benign	151162255	RCV000114483; RCV000212798; RCV000127312;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646261	23646261	NM_024675.3:c.1606C>T	NP_078951.2:p.Leu536=	NC_000016.9:g.23646261G>A	PALB2 database:PALB2_10078	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs)	79728	PALB2	Pathogenic;risk factor	180177102	RCV000001310; RCV000114482; RCV000212797; RCV000132474;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN068448; MedGen:CN221809	16	23646275	23646275	NM_024675.3:c.1592delT	NP_078951.2:p.Leu531Cysfs	NC_000016.9:g.23646275delA	OMIM Allelic Variant:610355.0006,PALB2 database:PALB2_10077	CN068448 Breast cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.1572A>G (p.Ser524=)	79728	PALB2	Benign;Likely benign	45472400	RCV000114481; RCV000114480; RCV000212796; RCV000127311;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN169374	16	23646295	23646295	NM_024675.3:c.1572A>G	NP_078951.2:p.Ser524=	NC_000016.9:g.23646295T>C	PALB2 database:PALB2_10076	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.1564C>T (p.Pro522Ser)	79728	PALB2	Uncertain significance	373876101	RCV000205286; RCV000116069;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646303	23646303	NM_024675.3:c.1564C>T	NP_078951.2:p.Pro522Ser	NC_000016.9:g.23646303G>A	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.1563C>G (p.Thr521=)	79728	PALB2	Likely benign	864622170	RCV000205681;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646304	23646304	NM_024675.3:c.1563C>G	NP_078951.2:p.Thr521=	NC_000016.9:g.23646304G>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1546delA (p.Arg516Glufs)	79728	PALB2	Pathogenic	587781560	RCV000196008; RCV000129579;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646321	23646321	NM_024675.3:c.1546delA	NP_078951.2:p.Arg516Glufs	NC_000016.9:g.23646321delT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg)	79728	PALB2	Likely benign;Uncertain significance	515726072	RCV000114479; RCV000129175;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646323	23646323	NM_024675.3:c.1544A>G	NP_078951.2:p.Lys515Arg	NC_000016.9:g.23646323T>C	PALB2 database:PALB2_10075	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1498T>C (p.Ser500Pro)	79728	PALB2	Uncertain significance	869025294	RCV000207336;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646369	23646369	NM_024675.3:c.1498T>C	NP_078951.2:p.Ser500Pro	NC_000016.9:g.23646369A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr)	79728	PALB2	Benign;Likely benign;Uncertain significance	75023630	RCV000197379; RCV000200991; RCV000160870;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646375	23646375	NM_024675.3:c.1492G>T	NP_078951.2:p.Asp498Tyr	NC_000016.9:g.23646375C>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1487A>G (p.Asp496Gly)	79728	PALB2	Uncertain significance	786204228	RCV000168368;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646380	23646380	NM_024675.3:c.1487A>G	NP_078951.2:p.Asp496Gly	NC_000016.9:g.23646380T>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1479delC (p.Thr494Leufs)	79728	PALB2	Pathogenic	515726071	RCV000114478; RCV000129889;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646388	23646388	NM_024675.3:c.1479delC	NP_078951.2:p.Thr494Leufs	NC_000016.9:g.23646388delG	PALB2 database:PALB2_10074	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1478C>T (p.Pro493Leu)	79728	PALB2	Likely benign;Uncertain significance	770965402	RCV000211081; RCV000217376;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23646389	23646389	NM_024675.3:c.1478C>T	NP_078951.2:p.Pro493Leu		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.1475G>T (p.Gly492Val)	79728	PALB2	Uncertain significance	515726070	RCV000114477;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646392	23646392	NM_024675.3:c.1475G>T	NP_078951.2:p.Gly492Val	16:g.23646392C>A	PALB2 database:PALB2_10183	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1470C>T (p.Pro490=)	79728	PALB2	Benign;Likely benign	45612837	RCV000114476; RCV000212795; RCV000127310;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646397	23646397	NM_024675.3:c.1470C>T	NP_078951.2:p.Pro490=	NC_000016.9:g.23646397G>A	PALB2 database:PALB2_10073	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1461C>T (p.Val487=)	79728	PALB2	Likely benign	515726069	RCV000114475;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646406	23646406	NM_024675.3:c.1461C>T	NP_078951.2:p.Val487=	16:g.23646406G>A	PALB2 database:PALB2_10072	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1457A>T (p.Lys486Ile)	79728	PALB2	Uncertain significance	864622291	RCV000205091;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646410	23646410	NM_024675.3:c.1457A>T	NP_078951.2:p.Lys486Ile	NC_000016.9:g.23646410T>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1454C>T (p.Thr485Ile)	79728	PALB2	Uncertain significance	786202699	RCV000205126; RCV000165637;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646413	23646413	NM_024675.3:c.1454C>T	NP_078951.2:p.Thr485Ile	NC_000016.9:g.23646413G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1431C>T (p.Thr477=)	79728	PALB2	Likely benign	515726068	RCV000114474;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646436	23646436	NM_024675.3:c.1431C>T	NP_078951.2:p.Thr477=	NC_000016.9:g.23646436G>A	PALB2 database:PALB2_10182	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1419A>C (p.Pro473=)	79728	PALB2	Benign;Likely benign	62625275	RCV000114473; RCV000212794; RCV000127309;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646448	23646448	NM_024675.3:c.1419A>C	NP_078951.2:p.Pro473=	NC_000016.9:g.23646448T>G	PALB2 database:PALB2_10071	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1380A>G (p.Gln460=)	79728	PALB2	Likely benign	372641262	RCV000114471;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646487	23646487	NM_024675.3:c.1380A>G	NP_078951.2:p.Gln460=	NC_000016.9:g.23646487T>C	PALB2 database:PALB2_10181	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg)	79728	PALB2	Uncertain significance	749494645	RCV000204210; RCV000166836;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646488	23646488	NM_024675.3:c.1379A>G	NP_078951.2:p.Gln460Arg	NC_000016.9:g.23646488T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1348A>C (p.Asn450His)	79728	PALB2	Uncertain significance	62625274	RCV000198442; RCV000212791; RCV000116067;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646519	23646519	NM_024675.3:c.1348A>C	NP_078951.2:p.Asn450His	NC_000016.9:g.23646519T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1347A>G (p.Lys449=)	79728	PALB2	Likely benign;Uncertain significance	587780205	RCV000197253; RCV000212790; RCV000116066;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646520	23646520	NM_024675.3:c.1347A>G	NP_078951.2:p.Lys449=	NC_000016.9:g.23646520T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1337A>T (p.Asp446Val)	79728	PALB2	Uncertain significance	146434474	RCV000200861;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646530	23646530	NM_024675.3:c.1337A>T	NP_078951.2:p.Asp446Val	NC_000016.9:g.23646530T>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1317G>A (p.Gly439=)	79728	PALB2	Likely benign	515726066	RCV000114469;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646550	23646550	NM_024675.3:c.1317G>A	NP_078951.2:p.Gly439=	16:g.23646550C>T	PALB2 database:PALB2_10180	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1317delG (p.Phe440Leufs)	79728	PALB2	Pathogenic	515726067	RCV000114470; RCV000212789; RCV000129522;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23646550	23646550	NM_024675.3:c.1317delG	NP_078951.2:p.Phe440Leufs		PALB2 database:PALB2_10070	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.1316G>T (p.Gly439Val)	79728	PALB2	Uncertain significance	537258442	RCV000167944;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646551	23646551	NM_024675.3:c.1316G>T	NP_078951.2:p.Gly439Val	NC_000016.9:g.23646551C>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1314delA (p.Phe440Leufs)	79728	PALB2	Pathogenic	515726065	RCV000114468; RCV000114467;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348	16	23646553	23646553	NM_024675.3:c.1314delA	NP_078951.2:p.Phe440Leufs		PALB2 database:PALB2_10069	C0346153 114480 Familial cancer of breast; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.1281T>C (p.Ala427=)	79728	PALB2	Benign;Likely benign	138697796	RCV000206142; RCV000212787; RCV000127308;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646586	23646586	NM_024675.3:c.1281T>C	NP_078951.2:p.Ala427=	NC_000016.9:g.23646586A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1273G>A (p.Val425Met)	79728	PALB2	Likely benign;Uncertain significance	576081828	RCV000205365; RCV000167189;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646594	23646594	NM_024675.3:c.1273G>A	NP_078951.2:p.Val425Met	NC_000016.9:g.23646594C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1250C>A (p.Ser417Tyr)	79728	PALB2	Uncertain significance	45510998	RCV000114466; RCV000212788; RCV000116065;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646617	23646617	NM_024675.3:c.1250C>A	NP_078951.2:p.Ser417Tyr	NC_000016.9:g.23646617G>T	PALB2 database:PALB2_10068	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1242A>C (p.Arg414=)	79728	PALB2	Likely benign	875989795	RCV000211070;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646625	23646625	NM_024675.3:c.1242A>C	NP_078951.2:p.Arg414=	NC_000016.9:g.23646625T>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1241G>A (p.Arg414Gln)	79728	PALB2	Uncertain significance	749461008	RCV000168333;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646626	23646626	NM_024675.3:c.1241G>A	NP_078951.2:p.Arg414Gln	NC_000016.9:g.23646626C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1240C>T (p.Arg414Ter)	79728	PALB2	Pathogenic	180177100	RCV000123331; RCV000116064;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646627	23646627	NM_024675.3:c.1240C>T	NP_078951.2:p.Arg414Ter	NC_000016.9:g.23646627G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1230T>C (p.Val410=)	79728	PALB2	Likely benign	587780818	RCV000123330;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646637	23646637	NM_024675.3:c.1230T>C	NP_078951.2:p.Val410=	NC_000016.9:g.23646637A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1194G>A (p.Val398=)	79728	PALB2	Benign;Likely benign	61755173	RCV000114463; RCV000114462; RCV000212786; RCV000127307;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN169374	16	23646673	23646673	NM_024675.3:c.1194G>A	NP_078951.2:p.Val398=	NC_000016.9:g.23646673C>T	PALB2 database:PALB2_10066	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.1194G>T (p.Val398=)	79728	PALB2	Likely benign	61755173	RCV000211072;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646673	23646673	NM_024675.3:c.1194G>T	NP_078951.2:p.Val398=		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1189A>T (p.Thr397Ser)	79728	PALB2	Likely benign;Uncertain significance	367578415	RCV000205533; RCV000212785; RCV000130855;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646678	23646678	NM_024675.3:c.1189A>T	NP_078951.2:p.Thr397Ser	NC_000016.9:g.23646678T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1188C>T (p.Cys396=)	79728	PALB2	Likely benign	587780817	RCV000123329; RCV000163124;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646679	23646679	NM_024675.3:c.1188C>T	NP_078951.2:p.Cys396=	NC_000016.9:g.23646679G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1178A>G (p.Lys393Arg)	79728	PALB2	Uncertain significance	765898856	RCV000204310;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646689	23646689	NM_024675.3:c.1178A>G	NP_078951.2:p.Lys393Arg	NC_000016.9:g.23646689T>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1145G>T (p.Ser382Ile)	79728	PALB2	Uncertain significance	515726063	RCV000114461;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646722	23646722	NM_024675.3:c.1145G>T	NP_078951.2:p.Ser382Ile	NC_000016.9:g.23646722C>A	PALB2 database:PALB2_10065	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1128T>G (p.Ser376Arg)	79728	PALB2	Uncertain significance	587780204	RCV000204740; RCV000116062;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646739	23646739	NM_024675.3:c.1128T>G	NP_078951.2:p.Ser376Arg	NC_000016.9:g.23646739A>C	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.1123C>A (p.Leu375Ile)	79728	PALB2	Uncertain significance	373298267	RCV000198293; RCV000166837;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646744	23646744	NM_024675.3:c.1123C>A	NP_078951.2:p.Leu375Ile	NC_000016.9:g.23646744G>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1115G>C (p.Ser372Thr)	79728	PALB2	Uncertain significance	786204243	RCV000168425;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646752	23646752	NM_024675.3:c.1115G>C	NP_078951.2:p.Ser372Thr	NC_000016.9:g.23646752C>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1097A>G (p.Asn366Ser)	79728	PALB2	Uncertain significance	554849907	RCV000204324; RCV000164773;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646770	23646770	NM_024675.3:c.1097A>G	NP_078951.2:p.Asn366Ser	NC_000016.9:g.23646770T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1096A>G (p.Asn366Asp)	79728	PALB2	Uncertain significance	786204080	RCV000167975;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646771	23646771	NM_024675.3:c.1096A>G	NP_078951.2:p.Asn366Asp	NC_000016.9:g.23646771T>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1095G>C (p.Arg365Ser)	79728	PALB2	Uncertain significance	515726062	RCV000114459;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646772	23646772	NM_024675.3:c.1095G>C	NP_078951.2:p.Arg365Ser	NC_000016.9:g.23646772C>G,NC_000016.9:g.23646772C>T	PALB2 database:PALB2_10179	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1093A>G (p.Arg365Gly)	79728	PALB2	Uncertain significance	773001248	RCV000205169; RCV000164864;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646774	23646774	NM_024675.3:c.1093A>G	NP_078951.2:p.Arg365Gly	NC_000016.9:g.23646774T>C,NC_000016.9:g.23646774T>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1093A>C (p.Arg365=)	79728	PALB2	Likely benign	773001248	RCV000199103;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646774	23646774	NM_024675.3:c.1093A>C	NP_078951.2:p.Arg365=	NC_000016.9:g.23646774T>C,NC_000016.9:g.23646774T>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1085T>C (p.Leu362Pro)	79728	PALB2	Uncertain significance	875989793	RCV000211066;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646782	23646782	NM_024675.3:c.1085T>C	NP_078951.2:p.Leu362Pro		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1056_1057delGA (p.Lys353Ilefs)	79728	PALB2	Pathogenic	180177099	RCV000114457; RCV000165605;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646810	23646811	NM_024675.3:c.1056_1057delGA	NP_078951.2:p.Lys353Ilefs	NC_000016.9:g.23646810_23646811delTC	PALB2 database:PALB2_10064	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1054G>C (p.Glu352Gln)	79728	PALB2	Uncertain significance	201035780	RCV000119209; RCV000130853;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646813	23646813	NM_024675.3:c.1054G>C	NP_078951.2:p.Glu352Gln	NC_000016.9:g.23646813C>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.1050_1051delAAinsTCT (p.Gln350Hisfs)	79728	PALB2	Pathogenic	180177098	RCV000114455;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646816	23646817	NM_024675.3:c.1050_1051delAAinsTCT	NP_078951.2:p.Gln350Hisfs	NC_000016.9:g.23646816_23646817delTTinsAGA	PALB2 database:PALB2_10063	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1037_1041delAAGAA (p.Lys346Thrfs)	79728	PALB2	Pathogenic	587776410	RCV000205410; RCV000133471; RCV000130093;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23646826	23646830	NM_024675.3:c.1037_1041delAAGAA	NP_078951.2:p.Lys346Thrfs	NC_000016.9:g.23646826_23646830delTTCTT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.1038A>G (p.Lys346=)	79728	PALB2	Likely benign	515726059	RCV000114454;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646829	23646829	NM_024675.3:c.1038A>G	NP_078951.2:p.Lys346=	16:g.23646829T>C	PALB2 database:PALB2_10061	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter)	79728	PALB2	Pathogenic;risk factor	180177097	RCV000144519; RCV000114453; RCV000114452; RCV000215551;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN068448	16	23646840	23646840	NM_024675.3:c.1027C>T	NP_078951.2:p.Gln343Ter	NC_000016.9:g.23646840G>A	OMIM Allelic Variant:610355.0011,PALB2 database:PALB2_10060	CN068448 Breast cancer, susceptibility to; C0346153 114480 Familial cancer of breast; C3150547 613348 Pancreatic cancer 3; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser)	79728	PALB2	Benign;Uncertain significance	45494092	RCV000114451; RCV000114450; RCV000121752; RCV000127306;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN169374	16	23646857	23646857	NM_024675.3:c.1010T>C	NP_078951.2:p.Leu337Ser	NC_000016.9:g.23646857A>G	PALB2 database:PALB2_10059	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys)	79728	PALB2	Likely benign;Uncertain significance	200620434	RCV000114449; RCV000212784; RCV000116060;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646866	23646866	NM_024675.3:c.1001A>G	NP_078951.2:p.Tyr334Cys	NC_000016.9:g.23646866T>C	PALB2 database:PALB2_10058	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp)	79728	PALB2	Likely benign;Uncertain significance	202241382	RCV000114448; RCV000165476;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646867	23646867	NM_024675.3:c.1000T>G	NP_078951.2:p.Tyr334Asp	NC_000016.9:g.23646867A>C	PALB2 database:PALB2_10057	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.999C>T (p.Thr333=)	79728	PALB2	Uncertain significance	180177096	RCV000114675;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646868	23646868	NM_024675.3:c.999C>T	NP_078951.2:p.Thr333=	NC_000016.9:g.23646868G>A	PALB2 database:PALB2_10056	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.995T>A (p.Leu332His)	79728	PALB2	Uncertain significance	377149139	RCV000199494; RCV000132538;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646872	23646872	NM_024675.3:c.995T>A	NP_078951.2:p.Leu332His	NC_000016.9:g.23646872A>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.985C>G (p.Leu329Val)	79728	PALB2	Uncertain significance	863224792	RCV000196873;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646882	23646882	NM_024675.3:c.985C>G	NP_078951.2:p.Leu329Val	NC_000016.9:g.23646882G>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.956C>A (p.Ser319Tyr)	79728	PALB2	Uncertain significance	200144401	RCV000114674;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646911	23646911	NM_024675.3:c.956C>A	NP_078951.2:p.Ser319Tyr	NC_000016.9:g.23646911G>T	PALB2 database:PALB2_10187	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.950C>T (p.Thr317Ile)	79728	PALB2	Uncertain significance	45548638	RCV000200449; RCV000164806;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646917	23646917	NM_024675.3:c.950C>T	NP_078951.2:p.Thr317Ile	NC_000016.9:g.23646917G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.929G>A (p.Ser310Asn)	79728	PALB2	Uncertain significance	370887726	RCV000196709;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646938	23646938	NM_024675.3:c.929G>A	NP_078951.2:p.Ser310Asn	NC_000016.9:g.23646938C>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.928A>G (p.Ser310Gly)	79728	PALB2	Uncertain significance	45561331	RCV000200242; RCV000212782; RCV000116115;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646939	23646939	NM_024675.3:c.928A>G	NP_078951.2:p.Ser310Gly	NC_000016.9:g.23646939T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.925A>G (p.Ile309Val)	79728	PALB2	Benign;Likely benign	3809683	RCV000114672; RCV000121749; RCV000129841;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646942	23646942	NM_024675.3:c.925A>G	NP_078951.2:p.Ile309Val	NC_000016.9:g.23646942T>C	PALB2 database:PALB2_10054	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.909C>T (p.Leu303=)	79728	PALB2	Benign;Likely benign	145788619	RCV000114670; RCV000212781; RCV000127304;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23646958	23646958	NM_024675.3:c.909C>T	NP_078951.2:p.Leu303=	NC_000016.9:g.23646958G>A	PALB2 database:PALB2_10055	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.900A>G (p.Thr300=)	79728	PALB2	Likely benign;Uncertain significance	771660444	RCV000205195; RCV000167125;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646967	23646967	NM_024675.3:c.900A>G	NP_078951.2:p.Thr300=	NC_000016.9:g.23646967T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.899C>T (p.Thr300Ile)	79728	PALB2	Uncertain significance	528541334	RCV000114669; RCV000219489; RCV000121751;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN169374	16	23646968	23646968	NM_024675.3:c.899C>T	NP_078951.2:p.Thr300Ile	NC_000016.9:g.23646968G>A	PALB2 database:PALB2_10053	C0346153 114480 Familial cancer of breast; CN169374 not specified; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.897T>C (p.Ser299=)	79728	PALB2	Likely benign	180177095	RCV000114668;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23646970	23646970	NM_024675.3:c.897T>C	NP_078951.2:p.Ser299=	NC_000016.9:g.23646970A>G	PALB2 database:PALB2_10052	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.860dupT (p.Ser288Lysfs)	79728	PALB2	Likely pathogenic;Pathogenic	864622301	RCV000204478;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647007	23647007	NM_024675.3:c.860dupT	NP_078951.2:p.Ser288Lysfs	NC_000016.9:g.23647007dupA	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.854C>T (p.Ser285Leu)	79728	PALB2	Uncertain significance	180177094	RCV000114667;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647013	23647013	NM_024675.3:c.854C>T	NP_078951.2:p.Ser285Leu	NC_000016.9:g.23647013G>A	PALB2 database:PALB2_10051	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.841A>T (p.Ile281Phe)	79728	PALB2	Uncertain significance	751882053	RCV000198379;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647026	23647026	NM_024675.3:c.841A>T	NP_078951.2:p.Ile281Phe	NC_000016.9:g.23647026T>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.833_834delTAinsAT (p.Leu278His)	79728	PALB2	Uncertain significance	587778582	RCV000204991; RCV000121746; RCV000131311;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647033	23647034	NM_024675.3:c.833_834delTAinsAT	NP_078951.2:p.Leu278His	NC_000016.9:g.23647033_23647034delTAinsAT	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.832C>G (p.Leu278Val)	79728	PALB2	Uncertain significance	515726128	RCV000114665;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647035	23647035	NM_024675.3:c.832C>G	NP_078951.2:p.Leu278Val	16:g.23647035G>C	PALB2 database:PALB2_10050	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.814G>A (p.Glu272Lys)	79728	PALB2	Uncertain significance	515726127	RCV000114664; RCV000165689;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647053	23647053	NM_024675.3:c.814G>A	NP_078951.2:p.Glu272Lys	NC_000016.9:g.23647053C>T	PALB2 database:PALB2_10049	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.807T>C (p.Gly269=)	79728	PALB2	Likely benign;Uncertain significance	180177093	RCV000114663; RCV000218873;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23647060	23647060	NM_024675.3:c.807T>C	NP_078951.2:p.Gly269=	NC_000016.9:g.23647060A>G	PALB2 database:PALB2_10048	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.769G>A (p.Gly257Ser)	79728	PALB2	Uncertain significance	587780824	RCV000123344; RCV000165945;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647098	23647098	NM_024675.3:c.769G>A	NP_078951.2:p.Gly257Ser	NC_000016.9:g.23647098C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.768C>T (p.Ser256=)	79728	PALB2	Likely benign	45487491	RCV000206372; RCV000163571;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647099	23647099	NM_024675.3:c.768C>T	NP_078951.2:p.Ser256=	NC_000016.9:g.23647099G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.765T>C (p.Asp255=)	79728	PALB2	Likely benign	45465299	RCV000114662; RCV000215345;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23647102	23647102	NM_024675.3:c.765T>C	NP_078951.2:p.Asp255=	NC_000016.9:g.23647102A>G	PALB2 database:PALB2_10047	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.761C>A (p.Ser254Ter)	79728	PALB2	Pathogenic	864622695	RCV000206812;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647106	23647106	NM_024675.3:c.761C>A	NP_078951.2:p.Ser254Ter	NC_000016.9:g.23647106G>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.757_758delCT (p.Leu253Ilefs)	79728	PALB2	Pathogenic	180177092	RCV000114659; RCV000114660; RCV000114658; RCV000212779; RCV000116112;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C1835817,OMIM:610832; MedGen:C3150547,OMIM:613348; MedGen:CN221809	16	23647109	23647110	NM_024675.3:c.757_758delCT	NP_078951.2:p.Leu253Ilefs	NC_000016.9:g.23647109_23647110delAG	Fanconi anemia database (FANCN):FANCN_00005,PALB2 database:PALB2_00005	C0346153 114480 Familial cancer of breast; C1835817 610832 Fanconi anemia, complementation group N; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.758dupT (p.Ser254Ilefs)	79728	PALB2	Likely pathogenic;Pathogenic	515726126	RCV000114661; RCV000212780; RCV000129208;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN221809	16	23647109	23647109	NM_024675.3:c.758dupT	NP_078951.2:p.Ser254Ilefs		PALB2 database:PALB2_10046	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided
NM_024675.3(PALB2):c.753G>C (p.Gln251His)	79728	PALB2	Uncertain significance	863224791	RCV000196503;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647114	23647114	NM_024675.3:c.753G>C	NP_078951.2:p.Gln251His	NC_000016.9:g.23647114C>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.751C>T (p.Gln251Ter)	79728	PALB2	Pathogenic	180177091	RCV000114657; RCV000217801; RCV000210097;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23647116	23647116	NM_024675.3:c.751C>T	NP_078951.2:p.Gln251Ter	NC_000016.9:g.23647116G>A	PALB2 database:PALB2_10044	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.740C>G (p.Thr247Arg)	79728	PALB2	Uncertain significance	587782658	RCV000211087; RCV000132073;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647127	23647127	NM_024675.3:c.740C>G	NP_078951.2:p.Thr247Arg	NC_000016.9:g.23647127G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.735G>A (p.Ala245=)	79728	PALB2	Likely benign	371612049	RCV000198997; RCV000214366;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23647132	23647132	NM_024675.3:c.735G>A	NP_078951.2:p.Ala245=	NC_000016.9:g.23647132C>T	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.734C>T (p.Ala245Val)	79728	PALB2	Uncertain significance	571063157	RCV000200032; RCV000130900;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647133	23647133	NM_024675.3:c.734C>T	NP_078951.2:p.Ala245Val	NC_000016.9:g.23647133G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.722A>G (p.Asn241Ser)	79728	PALB2	Uncertain significance	587780823	RCV000123343; RCV000131587;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647145	23647145	NM_024675.3:c.722A>G	NP_078951.2:p.Asn241Ser	NC_000016.9:g.23647145T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp)	79728	PALB2	Benign;Likely benign	113217267	RCV000114654; RCV000121748; RCV000116111;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647146	23647146	NM_024675.3:c.721A>G	NP_078951.2:p.Asn241Asp	NC_000016.9:g.23647146T>C	PALB2 database:PALB2_10043	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.697delG (p.Val233Leufs)	79728	PALB2	Pathogenic	180177090	RCV000114653;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647170	23647170	NM_024675.3:c.697delG	NP_078951.2:p.Val233Leufs	NC_000016.9:g.23647170delC	PALB2 database:PALB2_10042	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.693dupA (p.Gly232Argfs)	79728	PALB2	Likely pathogenic	875989791	RCV000211082;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647174	23647174	NM_024675.3:c.693dupA	NP_078951.2:p.Gly232Argfs	NC_000016.9:g.23647174dupT	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.660T>C (p.Ser220=)	79728	PALB2	Likely benign	571762192	RCV000203679;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647207	23647207	NM_024675.3:c.660T>C	NP_078951.2:p.Ser220=	NC_000016.9:g.23647207A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.656A>G (p.Asp219Gly)	79728	PALB2	Likely benign;Uncertain significance	45594034	RCV000114652; RCV000212778; RCV000129603;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647211	23647211	NM_024675.3:c.656A>G	NP_078951.2:p.Asp219Gly	NC_000016.9:g.23647211T>C	PALB2 database:PALB2_10041	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.632A>G (p.Glu211Gly)	79728	PALB2	Uncertain significance	180177089	RCV000114651;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647235	23647235	NM_024675.3:c.632A>G	NP_078951.2:p.Glu211Gly	NC_000016.9:g.23647235T>C	PALB2 database:PALB2_10040	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu)	79728	PALB2	Benign;Likely benign;Uncertain significance	57605939	RCV000114650; RCV000121750; RCV000131969;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647238	23647238	NM_024675.3:c.629C>T	NP_078951.2:p.Pro210Leu	NC_000016.9:g.23647238G>A	PALB2 database:PALB2_10038	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.620C>G (p.Pro207Arg)	79728	PALB2	Uncertain significance	515726125	RCV000114649;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647247	23647247	NM_024675.3:c.620C>G	NP_078951.2:p.Pro207Arg	16:g.23647247G>C	PALB2 database:PALB2_10039	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.618T>G (p.Leu206=)	79728	PALB2	Likely benign	180177088	RCV000114648;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647249	23647249	NM_024675.3:c.618T>G	NP_078951.2:p.Leu206=	NC_000016.9:g.23647249A>C	PALB2 database:PALB2_10037	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.577dupA (p.Thr193Asnfs)	79728	PALB2	Likely pathogenic	875989790	RCV000211071;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647290	23647290	NM_024675.3:c.577dupA	NP_078951.2:p.Thr193Asnfs	NC_000016.9:g.23647290dupT	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.571C>G (p.Pro191Ala)	79728	PALB2	Uncertain significance	587780221	RCV000211086; RCV000116110;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647296	23647296	NM_024675.3:c.571C>G	NP_078951.2:p.Pro191Ala	NC_000016.9:g.23647296G>C	-	C0346153 114480 Familial cancer of breast; CN169374 not specified
NM_024675.3(PALB2):c.563C>G (p.Ala188Gly)	79728	PALB2	Uncertain significance	587781975	RCV000168329; RCV000130368;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647304	23647304	NM_024675.3:c.563C>G	NP_078951.2:p.Ala188Gly	NC_000016.9:g.23647304G>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.557A>T (p.Asn186Ile)	79728	PALB2	Uncertain significance	587782164	RCV000197454; RCV000130756;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647310	23647310	NM_024675.3:c.557A>T	NP_078951.2:p.Asn186Ile	NC_000016.9:g.23647310T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.554A>G (p.Lys185Arg)	79728	PALB2	Uncertain significance	864622667	RCV000206508;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647313	23647313	NM_024675.3:c.554A>G	NP_078951.2:p.Lys185Arg	NC_000016.9:g.23647313T>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.541G>C (p.Glu181Gln)	79728	PALB2	Uncertain significance	864622280	RCV000205547;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647326	23647326	NM_024675.3:c.541G>C	NP_078951.2:p.Glu181Gln		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.522_523delAA (p.Arg175Thrfs)	79728	PALB2	Likely pathogenic	875989789	RCV000211064;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647344	23647345	NM_024675.3:c.522_523delAA	NP_078951.2:p.Arg175Thrfs	NC_000016.9:g.23647344_23647345delTT	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.511T>A (p.Leu171Met)	79728	PALB2	Uncertain significance	863224790	RCV000196309;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647356	23647356	NM_024675.3:c.511T>A	NP_078951.2:p.Leu171Met	NC_000016.9:g.23647356A>T	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.509_510delGA (p.Arg170Ilefs)	79728	PALB2	Pathogenic	515726123	RCV000114646; RCV000114645; RCV000212776; RCV000130658;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN221809	16	23647357	23647358	-	-		PALB2 database:PALB2_10036,PALB2 database:PALB2_10186	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.508A>G (p.Arg170Gly)	79728	PALB2	Likely benign;Uncertain significance	864622622	RCV000205323; RCV000215139;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23647359	23647359	NM_024675.3:c.508A>G	NP_078951.2:p.Arg170Gly		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.505C>A (p.Leu169Ile)	79728	PALB2	Uncertain significance	180177086	RCV000114643;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647362	23647362	NM_024675.3:c.505C>A	NP_078951.2:p.Leu169Ile	NC_000016.9:g.23647362G>T	PALB2 database:PALB2_10035	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.503C>A (p.Ser168Ter)	79728	PALB2	Pathogenic	515726122	RCV000114642;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647364	23647364	NM_024675.3:c.503C>A	NP_078951.2:p.Ser168Ter	NC_000016.9:g.23647364G>A,NC_000016.9:g.23647364G>T	PALB2 database:PALB2_10034	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn)	79728	PALB2	Benign;Likely benign;Likely pathogenic;Uncertain significanc	139555085	RCV000114637; RCV000200990; RCV000128994;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647467	23647467	NM_024675.3:c.400G>A	NP_078951.2:p.Asp134Asn	NC_000016.9:g.23647467C>T	PALB2 database:PALB2_10033	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.398G>T (p.Ser133Ile)	79728	PALB2	Uncertain significance	864622411	RCV000204748;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647469	23647469	NM_024675.3:c.398G>T	NP_078951.2:p.Ser133Ile	NC_000016.9:g.23647469C>A	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.393G>C (p.Arg131Ser)	79728	PALB2	Uncertain significance	864622461	RCV000205247;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647474	23647474	NM_024675.3:c.393G>C	NP_078951.2:p.Arg131Ser	NC_000016.9:g.23647474C>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.380A>G (p.His127Arg)	79728	PALB2	Uncertain significance	863224789	RCV000199860;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647487	23647487	NM_024675.3:c.380A>G	NP_078951.2:p.His127Arg	NC_000016.9:g.23647487T>C	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.353T>C (p.Ile118Thr)	79728	PALB2	Uncertain significance	370404126	RCV000211074; RCV000212774; RCV000116107;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647514	23647514	NM_024675.3:c.353T>C	NP_078951.2:p.Ile118Thr	NC_000016.9:g.23647514A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.351T>C (p.Pro117=)	79728	PALB2	Likely benign	763330757	RCV000196796;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647516	23647516	NM_024675.3:c.351T>C	NP_078951.2:p.Pro117=	NC_000016.9:g.23647516A>G	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.344G>T (p.Gly115Val)	79728	PALB2	Likely benign;Uncertain significance	145598272	RCV000114628; RCV000165559;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647523	23647523	NM_024675.3:c.344G>T	NP_078951.2:p.Gly115Val	NC_000016.9:g.23647523C>A	PALB2 database:PALB2_10185	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.315G>C (p.Glu105Asp)	79728	PALB2	Uncertain significance	515726108	RCV000114600; RCV000212773; RCV000116099;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647552	23647552	NM_024675.3:c.315G>C	NP_078951.2:p.Glu105Asp	NC_000016.9:g.23647552C>G	PALB2 database:PALB2_10032	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.312T>C (p.Pro104=)	79728	PALB2	Likely benign	749203259	RCV000204233; RCV000163526;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647555	23647555	NM_024675.3:c.312T>C	NP_078951.2:p.Pro104=	NC_000016.9:g.23647555A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe)	79728	PALB2	Uncertain significance	61756147	RCV000114577; RCV000212772; RCV000116095;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647569	23647569	NM_024675.3:c.298C>T	NP_078951.2:p.Leu100Phe	NC_000016.9:g.23647569G>A	PALB2 database:PALB2_10031	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.232G>A (p.Val78Ile)	79728	PALB2	Likely benign;Uncertain significance	515726085	RCV000114522; RCV000212771; RCV000116083;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23647635	23647635	NM_024675.3:c.232G>A	NP_078951.2:p.Val78Ile	NC_000016.9:g.23647635C>T	PALB2 database:PALB2_10030	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.229delT (p.Cys77Valfs)	79728	PALB2	Pathogenic	180177084	RCV000114519;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647638	23647638	NM_024675.3:c.229delT	NP_078951.2:p.Cys77Valfs	NC_000016.9:g.23647638delA	PALB2 database:PALB2_10029	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.226A>G (p.Ile76Val)	79728	PALB2	Likely benign;Uncertain significance	541028076	RCV000203860; RCV000223229;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23647641	23647641	NM_024675.3:c.226A>G	NP_078951.2:p.Ile76Val		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.212-2A>G	79728	PALB2	Likely pathogenic;Pathogenic	730881879	RCV000206312; RCV000213220; RCV000160830;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539; MedGen:CN221809	16	23647657	23647657	NM_024675.3:c.212-2A>G		NC_000016.9:g.23647657T>C	-	C0346153 114480 Familial cancer of breast; CN221809 not provided; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.212-10delT	79728	PALB2	Benign	766487430	RCV000199961;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647665	23647665	NM_024675.3:c.212-10delT		NC_000016.9:g.23647665delA	-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.212-25_212-24insAT	79728	PALB2	Likely benign	515726078	RCV000114508;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647679	23647680	NM_024675.3:c.212-25_212-24insAT			PALB2 database:PALB2_10027	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.212-25T>A	79728	PALB2	Likely benign	515726077	RCV000114507;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647680	23647680	NM_024675.3:c.212-25T>A		NC_000016.9:g.23647680A>T	PALB2 database:PALB2_10026	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.212-33A>C	79728	PALB2	Likely benign	515726079	RCV000114509;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647688	23647688	NM_024675.3:c.212-33A>C		16:g.23647688T>G	PALB2 database:PALB2_10025	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.212-58A>C	79728	PALB2	Benign	80291632	RCV000114510; RCV000210760;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647713	23647713	NM_024675.3:c.212-58A>C		NC_000016.9:g.23647713T>G	PALB2 database:PALB2_10023	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.212-70T>C	79728	PALB2	Likely benign	515726080	RCV000114511;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647725	23647725	NM_024675.3:c.212-70T>C		16:g.23647725A>G	PALB2 database:PALB2_10024	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.212-180T>G	79728	PALB2	Likely benign	515726076	RCV000114506;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23647835	23647835	NM_024675.3:c.212-180T>G		16:g.23647835A>C	PALB2 database:PALB2_10210	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter)	79728	PALB2	Likely pathogenic;Pathogenic	180177083	RCV000114503; RCV000163078;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649186	23649186	NM_024675.3:c.196C>T	NP_078951.2:p.Gln66Ter	NC_000016.9:g.23649186G>A	PALB2 database:PALB2_10022	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.195G>A (p.Pro65=)	79728	PALB2	Likely benign	751176316	RCV000204765; RCV000164062;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649187	23649187	NM_024675.3:c.195G>A	NP_078951.2:p.Pro65=	NC_000016.9:g.23649187C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.194C>T (p.Pro65Leu)	79728	PALB2	Uncertain significance	62625272	RCV000168167; RCV000121745; RCV000116075;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23649188	23649188	NM_024675.3:c.194C>T	NP_078951.2:p.Pro65Leu	NC_000016.9:g.23649188G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs)	79728	PALB2	Likely pathogenic;Pathogenic;Uncertain significance;risk fac	180177143	RCV000114497; RCV000114496; RCV000212770; RCV000116073;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348; MedGen:CN221809	16	23649207	23649210	NM_024675.3:c.172_175delTTGT	NP_078951.2:p.Gln60Argfs	NC_000016.9:g.23649207_23649210delACAA	OMIM Allelic Variant:610355.0007,PALB2 database:PALB2_10002,PALB2 database:PALB2_10021	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN221809 not provided; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.149A>C (p.Lys50Thr)	79728	PALB2	Likely benign;Uncertain significance	763598472	RCV000205692; RCV000221595;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23649233	23649233	NM_024675.3:c.149A>C	NP_078951.2:p.Lys50Thr		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.142A>G (p.Ile48Val)	79728	PALB2	Uncertain significance	786203134	RCV000200742; RCV000213155; RCV000166309;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23649240	23649240	NM_024675.3:c.142A>G	NP_078951.2:p.Ile48Val	NC_000016.9:g.23649240T>C	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.110G>A (p.Arg37His)	79728	PALB2	Uncertain significance	202194596	RCV000114460; RCV000212768; RCV000116061;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23649272	23649272	NM_024675.3:c.110G>A	NP_078951.2:p.Arg37His	NC_000016.9:g.23649272C>T	PALB2 database:PALB2_10020	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.109C>T (p.Arg37Cys)	79728	PALB2	Uncertain significance	200048921	RCV000204029;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649273	23649273	NM_024675.3:c.109C>T	NP_078951.2:p.Arg37Cys		-	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.109-59C>G	79728	PALB2	Likely benign	515726061	RCV000114458;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649332	23649332	NM_024675.3:c.109-59C>G		NC_000016.9:g.23649332G>C	PALB2 database:PALB2_10019	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.100C>T (p.Arg34Cys)	79728	PALB2	Uncertain significance	373483056	RCV000199940; RCV000164663;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649399	23649399	NM_024675.3:c.100C>T	NP_078951.2:p.Arg34Cys	NC_000016.9:g.23649399G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.94C>G (p.Leu32Val)	79728	PALB2	Likely benign;Uncertain significance	151316635	RCV000114673; RCV000121744; RCV000116117;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23649405	23649405	NM_024675.3:c.94C>G	NP_078951.2:p.Leu32Val	NC_000016.9:g.23649405G>C	PALB2 database:PALB2_10178	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.93dupA (p.Leu32Thrfs)	79728	PALB2	Pathogenic	864622498	RCV000204530; RCV000223136;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23649406	23649406	NM_024675.3:c.93dupA	NP_078951.2:p.Leu32Thrfs		-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.90G>T (p.Lys30Asn)	79728	PALB2	Uncertain significance	515726130	RCV000114671;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649409	23649409	NM_024675.3:c.90G>T	NP_078951.2:p.Lys30Asn	16:g.23649409C>A	PALB2 database:PALB2_10177	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.85A>G (p.Ser29Gly)	79728	PALB2	Uncertain significance	776110440	RCV000167900; RCV000217631;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23649414	23649414	NM_024675.3:c.85A>G	NP_078951.2:p.Ser29Gly	NC_000016.9:g.23649414T>C	-	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.84C>T (p.Tyr28=)	79728	PALB2	Likely benign	761533286	RCV000195762; RCV000164145;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649415	23649415	NM_024675.3:c.84C>T	NP_078951.2:p.Tyr28=	NC_000016.9:g.23649415G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.83A>G (p.Tyr28Cys)	79728	PALB2	Uncertain significance	515726129	RCV000114666; RCV000220533;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23649416	23649416	NM_024675.3:c.83A>G	NP_078951.2:p.Tyr28Cys	16:g.23649416T>C	PALB2 database:PALB2_10018	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.72delG (p.Arg26Glyfs)	79728	PALB2	Pathogenic	180177142	RCV000114656; RCV000114655; RCV000164203;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3150547,OMIM:613348	16	23649427	23649427	NM_024675.3:c.72delG	NP_078951.2:p.Arg26Glyfs	NC_000016.9:g.23649427delC	PALB2 database:PALB2_10017	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; C3150547 613348 Pancreatic cancer 3
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg)	79728	PALB2	Benign;Likely benign;Uncertain significance	138789658	RCV000114647; RCV000121743; RCV000129207;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23649446	23649446	NM_024675.3:c.53A>G	NP_078951.2:p.Lys18Arg	NC_000016.9:g.23649446T>C	PALB2 database:PALB2_10016	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.49-2A>T	79728	PALB2	Likely pathogenic	786203245	RCV000198571; RCV000166471;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649452	23649452	NM_024675.3:c.49-2A>T		NC_000016.9:g.23649452T>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.49-54C>T	79728	PALB2	Likely benign	515726121	RCV000114641;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649504	23649504	NM_024675.3:c.49-54C>T		NC_000016.9:g.23649504G>A	PALB2 database:PALB2_10209	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.49-104C>T	79728	PALB2	Likely benign	606231405	RCV000114437;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649554	23649554	NM_024675.3:c.49-104C>T		NC_000016.9:g.23649554G>A	PALB2 database:PALB2_10008	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.49-173G>T	79728	PALB2	Likely benign	515726120	RCV000114640;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23649623	23649623	NM_024675.3:c.49-173G>T		16:g.23649623C>A	PALB2 database:PALB2_10015	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.48+27G>T	79728	PALB2	Likely benign	515726119	RCV000114639;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652404	23652404	NM_024675.3:c.48+27G>T		NC_000016.9:g.23652404C>A	PALB2 database:PALB2_10014	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.48+1G>C	79728	PALB2	Likely pathogenic	515726118	RCV000114638; RCV000213648;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:C3280492,OMIM:614327,ORPHA:289539	16	23652430	23652430	NM_024675.3:c.48+1G>C		16:g.23652430C>G	PALB2 database:PALB2_10001	C0346153 114480 Familial cancer of breast; C3280492 614327 Tumor predisposition syndrome
NM_024675.3(PALB2):c.37G>A (p.Glu13Lys)	79728	PALB2	Uncertain significance	373287455	RCV000197594; RCV000160873;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652442	23652442	NM_024675.3:c.37G>A	NP_078951.2:p.Glu13Lys	NC_000016.9:g.23652442C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.26T>A (p.Leu9His)	79728	PALB2	Likely benign	515726092	RCV000114551;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652453	23652453	NM_024675.3:c.26T>A	NP_078951.2:p.Leu9His	16:g.23652453A>T	PALB2 database:PALB2_10013	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.23C>T (p.Pro8Leu)	79728	PALB2	Likely benign;Uncertain significance	150390726	RCV000114527; RCV000212767; RCV000160872;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23652456	23652456	NM_024675.3:c.23C>T	NP_078951.2:p.Pro8Leu	NC_000016.9:g.23652456G>A	PALB2 database:PALB2_10012	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.13C>T (p.Pro5Ser)	79728	PALB2	Uncertain significance	377085677	RCV000114472; RCV000212766; RCV000116068;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23652466	23652466	NM_024675.3:c.13C>T	NP_078951.2:p.Pro5Ser	NC_000016.9:g.23652466G>A	PALB2 database:PALB2_10176	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.12T>C (p.Pro4=)	79728	PALB2	Benign;Likely benign	567706422	RCV000123332; RCV000212765; RCV000160826;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23652467	23652467	NM_024675.3:c.12T>C	NP_078951.2:p.Pro4=	NC_000016.9:g.23652467A>G	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu)	79728	PALB2	Uncertain significance	45619737	RCV000114464; RCV000212764; RCV000116063;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23652468	23652468	NM_024675.3:c.11C>T	NP_078951.2:p.Pro4Leu	NC_000016.9:g.23652468G>A	PALB2 database:PALB2_10175	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.10C>T (p.Pro4Ser)	79728	PALB2	Uncertain significance	587782483	RCV000205368; RCV000212763; RCV000131600;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	16	23652469	23652469	NM_024675.3:c.10C>T	NP_078951.2:p.Pro4Ser	NC_000016.9:g.23652469G>A	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_024675.3(PALB2):c.9G>A (p.Glu3=)	79728	PALB2	Likely benign	786202325	RCV000204176; RCV000165076;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652470	23652470	NM_024675.3:c.9G>A	NP_078951.2:p.Glu3=	NC_000016.9:g.23652470C>A,NC_000016.9:g.23652470C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_024675.3(PALB2):c.-25C>A	79728	PALB2	Likely benign	515726056	RCV000114443;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652503	23652503	NM_024675.3:c.-25C>A		NC_000016.9:g.23652503G>T	PALB2 database:PALB2_10173	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.-46G>A	79728	PALB2	Likely benign	180177141	RCV000114445;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652524	23652524	NM_024675.3:c.-46G>A		NC_000016.9:g.23652524C>T	PALB2 database:PALB2_10010	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.-47G>A	79728	PALB2	Benign	8053188	RCV000114446;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652525	23652525	NM_024675.3:c.-47G>A		NC_000016.9:g.23652525C>T	PALB2 database:PALB2_10007	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.-98C>A	79728	PALB2	Likely benign	515726058	RCV000114447;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652576	23652576	NM_024675.3:c.-98C>A		NC_000016.9:g.23652576G>T	PALB2 database:PALB2_10174	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.-145G>C	79728	PALB2	Likely benign	373698818	RCV000114438;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652623	23652623	NM_024675.3:c.-145G>C		NC_000016.9:g.23652623C>G	PALB2 database:PALB2_10204	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.-158G>C	79728	PALB2	Likely benign	138200248	RCV000114439;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652636	23652636	NM_024675.3:c.-158G>C		NC_000016.9:g.23652636C>G	PALB2 database:PALB2_10205	C0346153 114480 Familial cancer of breast
NM_024675.3(PALB2):c.-194C>G	79728	PALB2	Likely benign	515726054	RCV000114440;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	16	23652672	23652672	NM_024675.3:c.-194C>G		16:g.23652672G>C	PALB2 database:PALB2_10011	C0346153 114480 Familial cancer of breast
NM_006218.3(PIK3CA):c.1571G>A (p.Arg524Lys)	5290	PIK3CA	not provided	104885999	RCV000119355;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	3	178936029	178936029	NM_006218.3:c.1571G>A	NP_006209.2:p.Arg524Lys	NC_000003.11:g.178936029G>A	-	C0346153 114480 Familial cancer of breast
NM_006218.3(PIK3CA):c.1664G>A (p.Arg555Lys)	5290	PIK3CA	not provided	104886000	RCV000119357;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	3	178936122	178936122	NM_006218.3:c.1664G>A	NP_006209.2:p.Arg555Lys	NC_000003.11:g.178936122G>A	-	C0346153 114480 Familial cancer of breast
NM_006218.3(PIK3CA):c.1664+18G>A	5290	PIK3CA	not provided	104886001	RCV000119358;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	3	178936140	178936140	NM_006218.3:c.1664+18G>A		NC_000003.11:g.178936140G>A	-	C0346153 114480 Familial cancer of breast
NM_006218.3(PIK3CA):c.1769G>A (p.Trp590Ter)	5290	PIK3CA	not provided	104886021	RCV000119367;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	3	178937381	178937381	NM_006218.3:c.1769G>A	NP_006209.2:p.Trp590Ter	NC_000003.11:g.178937381G>A	-	C0346153 114480 Familial cancer of breast
NM_003629.3(PIK3R3):c.797G>A (p.Arg266His)	8503	PIK3R3	Uncertain significance	765790132	RCV000207330;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	1	46521611	46521611	NM_003629.3:c.797G>A	NP_003620.3:p.Arg266His	NC_000001.10:g.46521611C>T	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.*919G>T	9055	PRC1	Uncertain significance	15172	RCV000162276;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91509442	91509442	NM_003981.3:c.*919G>T		NC_000015.9:g.91509442C>A	-	C0346153 114480 Familial cancer of breast
NM_003981.3(PRC1):c.*769A>G	9055	PRC1	Uncertain significance	7601	RCV000162271;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	91509592	91509592	NM_003981.3:c.*769A>G		NC_000015.9:g.91509592T>C	-	C0346153 114480 Familial cancer of breast
NM_005732.3(RAD50):c.2910C>T (p.Asp970=)	10111	RAD50	Benign;Likely benign	148269640	RCV000030966; RCV000162538;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	5	131944889	131944889	NM_005732.3:c.2910C>T	NP_005723.2:p.Asp970=	NC_000005.9:g.131944889C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome
NM_005732.3(RAD50):c.3879C>T (p.Ile1293=)	10111	RAD50	Benign;Likely benign	28903094	RCV000030965; RCV000212928; RCV000160911;	N	MedGen:C0027672,SNOMED CT:699346009; MedGen:C0346153,OMIM:114480,SNOMED CT:254843006; MedGen:CN169374	5	131977996	131977996	NM_005732.3:c.3879C>T	NP_005723.2:p.Ile1293=	NC_000005.9:g.131977996C>T	-	C0346153 114480 Familial cancer of breast; C0027672 Hereditary cancer-predisposing syndrome; CN169374 not specified
NM_002875.4(RAD51):c.449G>A (p.Arg150Gln)	5888	RAD51	Pathogenic	121917739	RCV000014007;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	15	41011016	41011016	NM_002875.4:c.449G>A	NP_002866.2:p.Arg150Gln	NC_000015.9:g.41011016G>A	OMIM Allelic Variant:179617.0001	C0346153 114480 Familial cancer of breast
NM_000546.5(TP53):c.413delC (p.Lys139Argfs)	7157	TP53	not provided	137852794	RCV000119794;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	7578517	7578517	NM_000546.5:c.413delC	NP_000537.3:p.Lys139Argfs	NC_000017.10:g.7578517delG	-	C0346153 114480 Familial cancer of breast
NM_000546.5(TP53):c.386C>T (p.Ala129Val)	7157	TP53	not provided	137852792	RCV000119793;	N	MedGen:C0346153,OMIM:114480,SNOMED CT:254843006	17	7578544	7578544	NM_000546.5:c.386C>T	NP_000537.3:p.Ala129Val	NC_000017.10:g.7578544G>A	-	C0346153 114480 Familial cancer of breast