MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Fanconi Anemia (D005199)
..Starting node ..Fanconi Anemia, Complementation Group D1 (C563980)
Child Nodes:
Sister Nodes:
..Estren-Dameshek Variant of Fanconi Anemia (C565572)
..Estren-Dameshek Variant of Fanconi Pancytopenia (C565573)
..Fanconi Anemia, Complementation Group B (C564497)
..FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
..Fanconi Anemia, Complementation Group D1 (C563980)
..FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
..FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
..FANCONI ANEMIA, COMPLEMENTATION GROUP F (OMIM:603467)
..FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
..Fanconi Anemia, Complementation Group I (C563802)
..Fanconi Anemia, Complementation Group J (C563801)
..FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
..Fanconi Anemia, Complementation Group N (C563657)
..FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
..FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
..FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
..FANCONI ANEMIA, COMPLEMENTATION GROUP R (OMIM:617244)
..FANCONI ANEMIA, COMPLEMENTATION GROUP T (OMIM:616435)
..FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
..FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
..Milner Khallouf Gibson syndrome (C537473)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4616

Name:

Fanconi Anemia, Complementation Group D1

Definition:

Alternative IDs:

OMIM:605724

ParentIDs:

MESH:D005199

TreeNumbers:

C15.378.071.085.080.280/C563980 |C15.378.190.196.080.280/C563980 |C16.320.077.280/C563980 |C18.452.284.280/C563980

Synonyms:

FAD1 |FANCD1

Slim Mappings:

Blood disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C563980
MeSH: C563980
OMIM: 605724;
MSeqDR :
Genes: BRCA2;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0004808	Acute myeloid leukemia	HP:0040284
3	HP:0002023	Anal atresia	HP:0040284
4	HP:0005528	Bone marrow hypocellularity
5	HP:0000957	Cafe-au-lait spot	HP:0040284
6	HP:0003221	Chromosomal breakage induced by crosslinking agents
7	HP:0001508	Failure to thrive	HP:0040284
8	HP:0001511	Intrauterine growth retardation	HP:0040284
9	HP:0000252	Microcephaly	HP:0040284
10	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
11	HP:0009778	Short thumb	HP:0040284
12	HP:0006727	T-cell acute lymphoblastic leukemias	HP:0040284

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000059.3(BRCA2):c.-220G>T	675	BRCA2	Conflicting interpretations of pathogenicity	1036870835	RCV001111445\|RCV001111446\|RCV001425606\|RCV002259082\|RCV002511042;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|M	13	32889624	32889624	13:g.32889624G>T	-
NM_000059.3(BRCA2):c.-210A>G	675	BRCA2	Uncertain significance	886050111	RCV000290721\|RCV000340931;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32889634	32889634	NC_000013.10:g.32889634A>G	ClinGen:CA10634117	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.-175C>T	675	BRCA2	Benign	55880202	RCV000191545\|RCV000287128\|RCV000502751\|RCV000829446\|RCV001514889\|RCV002258824;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,M	13	32889669	32889669	NC_000013.10:g.32889669C>T	ClinGen:CA276568	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.-52A>G	675	BRCA2	Benign	206118	RCV000191546\|RCV000297492\|RCV000338379\|RCV000585661\|RCV001706165;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:CN169374\|MedGen:C3661900	13	32889792	32889792	13:g.32889792A>G	ClinGen:CA276569	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.-40+2T>C	675	BRCA2	Conflicting interpretations of pathogenicity	1593879845	RCV000797145\|RCV002352335\|RCV003330094;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32889806	32889806	13:g.32889806T>C	-
NM_000059.4(BRCA2):c.-40+7G>T	675	BRCA2	Conflicting interpretations of pathogenicity	1555279969	RCV000508126\|RCV000581674\|RCV000868731\|RCV001113448\|RCV001113449;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:61255	13	32889811	32889811	13:g.32889811G>T	ClinGen:CA645509353	C0027672 Hereditary cancer-predisposing syndrome;
NM_000059.4(BRCA2):c.-26G>A	675	BRCA2	Benign	1799943	RCV000112977\|RCV000114981\|RCV000246798\|RCV000397056\|RCV000580284\|RCV001520600\|RCV001705818;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672	13	32890572	32890572	13:g.32890572G>A	Breast Cancer Information Core (BIC) (BRCA2):203&base_change=G to A,ClinGen:CA016113	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.-11C>T	675	BRCA2	Benign	76874770	RCV000113002\|RCV000131010\|RCV000175515\|RCV000205927\|RCV000370664\|RCV001353870\|RCV001705819\|RCV003149775;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32890587	32890587	13:g.32890587C>T	Breast Cancer Information Core (BIC) (BRCA2):218&base_change=C to T,ClinGen:CA011132	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.68-7T>A	675	BRCA2	Benign	81002830	RCV000045051\|RCV000074550\|RCV000077384\|RCV000168529\|RCV000362403\|RCV000579605\|RCV000656581\|RCV001353785\|RCV001798237;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,Or	13	32893207	32893207	13:g.32893207T>A	Breast Cancer Information Core (BIC) (BRCA2):296-7&base_change=T to A,ClinGen:CA024538	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser)	675	BRCA2	Conflicting interpretations of pathogenicity	80358463	RCV000031339\|RCV000130469\|RCV000168530\|RCV001082266\|RCV001114847\|RCV001284556;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32893325	32893325	13:g.32893325A>G	ClinGen:CA013307	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.184T>C (p.Phe62Leu)	675	BRCA2	Uncertain significance	2072286770	RCV001114849\|RCV001114848;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32893330	32893330	13:g.32893330T>C	-
NM_000059.4(BRCA2):c.198A>G (p.Gln66=)	675	BRCA2	Benign	28897700	RCV000113265\|RCV000162901\|RCV000167850\|RCV000377649\|RCV000499809\|RCV001353470\|RCV001723632;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|M	13	32893344	32893344	13:g.32893344A>G	Breast Cancer Information Core (BIC) (BRCA2):426&base_change=A to G,ClinGen:CA014082	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)	675	BRCA2	Conflicting interpretations of pathogenicity	786201916	RCV000164444\|RCV000637554\|RCV001193279\|RCV001729420\|RCV003441762;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:C3661900	13	32893462	32893462	13:g.32893462G>A	ClinGen:CA017418	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.316+13A>G	675	BRCA2	Conflicting interpretations of pathogenicity	773097109	RCV000229296\|RCV000378354\|RCV000579746\|RCV000586995\|RCV000607980\|RCV001094073\|RCV001357840;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0012933,MedGen:C26	13	32893475	32893475	NC_000013.10:g.32893475A>G	ClinGen:CA6940341	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.323A>G (p.Asn108Ser)	675	BRCA2	Conflicting interpretations of pathogenicity	80358568	RCV000077298\|RCV000166938\|RCV000221445\|RCV000315720\|RCV001356621\|RCV001372390\|RCV002250509\|RCV002267810;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO	13	32899219	32899219	13:g.32899219A>G	ClinGen:CA017610	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)	675	BRCA2	Benign	80358674	RCV000044408\|RCV000077324\|RCV000120385\|RCV000131281\|RCV000349768\|RCV000677867\|RCV000679172\|RCV001353994\|RCV002250513\|RCV003153335;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32900252	32900252	13:g.32900252A>G	ClinGen:CA020118	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg)	675	BRCA2	Conflicting interpretations of pathogenicity	80358730	RCV000031522\|RCV000044547\|RCV000074532\|RCV000129126\|RCV001111540\|RCV001281705\|RCV001798044;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32900409	32900409	13:g.32900409A>G	ClinGen:CA021201	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.561G>A (p.Glu187=)	675	BRCA2	Uncertain significance	754678843	RCV000296477\|RCV000393185;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32900680	32900680	NC_000013.10:g.32900680G>A	ClinGen:CA10644140	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile)	675	BRCA2	Uncertain significance	80358818	RCV000044783\|RCV000113840\|RCV000166163\|RCV000780031\|RCV001111542\|RCV003441732;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32900706	32900706	13:g.32900706G>T	ClinGen:CA023332	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.608C>A (p.Thr203Asn)	675	BRCA2	Conflicting interpretations of pathogenicity	398122547	RCV000076954\|RCV000471187\|RCV000509879\|RCV000758918\|RCV001113535;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32900727	32900727	13:g.32900727C>A	ClinGen:CA023638	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.628A>G (p.Ile210Val)	675	BRCA2	Uncertain significance	1555281106	RCV000690118\|RCV001113537\|RCV001113536\|RCV002352134\|RCV003327447;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|M	13	32900747	32900747	13:g.32900747A>G	-	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.631+1G>A	675	BRCA2	Pathogenic/Likely pathogenic	81002897	RCV000009942\|RCV000044895\|RCV000113913\|RCV000131851\|RCV000985563\|RCV001310166;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|M	13	32900751	32900751	13:g.32900751G>A	Breast Cancer Information Core (BIC) (BRCA2):859+1&base_change=G to A,ClinGen:CA023848,OMIM:600185.0033	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.631+2T>G	675	BRCA2	Pathogenic	81002899	RCV000009943\|RCV000031615\|RCV000044897\|RCV000129071\|RCV000195357\|RCV000769680\|RCV000826135\|RCV001353557\|RCV003147279;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32900752	32900752	13:g.32900752T>G	Breast Cancer Information Core (BIC) (BRCA2):859+2&base_change=T to G,ClinGen:CA023852,OMIM:600185.0034	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.632-3C>T	675	BRCA2	Conflicting interpretations of pathogenicity	568027879	RCV001113538\|RCV001113539\|RCV001188038;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32903577	32903577	13:g.32903577C>T	-
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)	675	BRCA2	Pathogenic	80359604	RCV000009929\|RCV000009930\|RCV000009931\|RCV000009932\|RCV000031637\|RCV000044988\|RCV000074548\|RCV000131858\|RCV000210073\|RCV000466729\|RCV000735587\|RCV001356991\|RCV001843452\|RCV002496316\|RCV003128126\|RCV003162226\|RCV003335024\|RCV003389667;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0008679,MedGen:CN033288,OMIM:194070, Orphanet:654\|MONDO:MONDO:0013093,MedGen:C2751641,OMIM:613029, Orphanet:182067, Orphanet:360\|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:000	13	32903605	32903606	13:g.32903605_32903606del	Breast Cancer Information Core (BIC) (BRCA2):886&base_change=del GT,ClinGen:CA024188,OMIM:600185.0027	C2676676 604370 Breast-ovarian cancer, familial 1;
NM_000059.4(BRCA2):c.658dup (p.Val220fs)	675	BRCA2	Pathogenic	-1	RCV002285119;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32903605	32903606	32903605	-
NM_000059.4(BRCA2):c.679G>A (p.Ala227Thr)	675	BRCA2	Uncertain significance	398122563	RCV000076972\|RCV000162816\|RCV000467633\|RCV000758934\|RCV001113540\|RCV003474658;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32903627	32903627	13:g.32903627G>A	ClinGen:CA024411	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.844C>G (p.His282Asp)	675	BRCA2	Conflicting interpretations of pathogenicity	768605944	RCV001113541\|RCV001114948\|RCV003158428;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32906459	32906459	13:g.32906459C>G	-
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val)	675	BRCA2	Conflicting interpretations of pathogenicity	80359097	RCV000045529\|RCV000077440\|RCV000164639\|RCV001114949\|RCV001561218\|RCV003235008;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|M	13	32906462	32906462	13:g.32906462A>G	ClinGen:CA025663	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.865A>C (p.Asn289His)	675	BRCA2	Benign	766173	RCV000034465\|RCV000112858\|RCV000120305\|RCV000130996\|RCV000351416\|RCV000393165\|RCV000470594\|RCV000768559\|RCV002496513;	N	MedGen:C3661900\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D06132	13	32906480	32906480	13:g.32906480A>C	ClinGen:CA025765	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.909T>G (p.Ser303=)	675	BRCA2	Likely benign	757430441	RCV000200243\|RCV000215589\|RCV000366189\|RCV000495256\|RCV001353837\|RCV001711976\|RCV002465558;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|M	13	32906524	32906524	13:g.32906524T>G	ClinGen:CA339184	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.942A>G (p.Lys314=)	675	BRCA2	Conflicting interpretations of pathogenicity	1384322636	RCV001019336\|RCV001109311\|RCV001114950\|RCV002549502;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	13	32906557	32906557	13:g.32906557A>G	-
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser)	675	BRCA2	Benign/Likely benign	79483201	RCV000045821\|RCV000112866\|RCV000130455\|RCV000160200\|RCV000402194\|RCV000758976\|RCV000769684\|RCV002250498;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32906558	32906558	13:g.32906558T>A	ClinGen:CA026159	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)	675	BRCA2	Conflicting interpretations of pathogenicity	80358396	RCV000043719\|RCV000112875\|RCV000509731\|RCV000759572\|RCV001111640\|RCV001280581;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32906627	32906627	13:g.32906627G>A	ClinGen:CA010336	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)	675	BRCA2	Benign	144848	RCV000009916\|RCV000034427\|RCV000120303\|RCV000130720\|RCV000207052\|RCV000260146\|RCV000320173\|RCV000468776\|RCV000768560\|RCV002476952;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C1527349\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:000	13	32906729	32906729	13:g.32906729A>C	ClinGen:CA010835,OMIM:600185.0013	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1144A>C (p.Lys382Gln)	675	BRCA2	Conflicting interpretations of pathogenicity	371454630	RCV000130560\|RCV000195524\|RCV000238792\|RCV000500188\|RCV001112103\|RCV001170455\|RCV001353620\|RCV002227070;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32906759	32906759	13:g.32906759A>C	ClinGen:CA010932	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln)	675	BRCA2	Benign	397507263	RCV000082883\|RCV000129740\|RCV000197010\|RCV000294429\|RCV000436893\|RCV000587492\|RCV000677855\|RCV001353634;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|M	13	32906781	32906781	13:g.32906781C>A	ClinGen:CA011014	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1224G>A (p.Met408Ile)	675	BRCA2	Conflicting interpretations of pathogenicity	1593892275	RCV001112105\|RCV001112106\|RCV003158427;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32906839	32906839	13:g.32906839G>A	-
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)	675	BRCA2	Conflicting interpretations of pathogenicity	80358418	RCV000077253\|RCV000129196\|RCV001112107\|RCV001284073\|RCV001394892;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32906862	32906862	13:g.32906862T>G	ClinGen:CA011324	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1274A>G (p.Glu425Gly)	675	BRCA2	Conflicting interpretations of pathogenicity	768169574	RCV000222738\|RCV000701503\|RCV001115060\|RCV001115059;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32906889	32906889	13:g.32906889A>G	ClinGen:CA6940501	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=)	675	BRCA2	Benign	1801439	RCV000112914\|RCV000131025\|RCV000173629\|RCV000288642\|RCV000387648\|RCV000476213\|RCV000656587;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32906980	32906980	13:g.32906980A>G	Breast Cancer Information Core (BIC) (BRCA2):1593&base_change=A to G,ClinGen:CA011778	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu)	675	BRCA2	Conflicting interpretations of pathogenicity	56390402	RCV000031322\|RCV000131573\|RCV000679155\|RCV001082494\|RCV001109419\|RCV001818198;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32907075	32907075	13:g.32907075C>A	ClinGen:CA012131	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp)	675	BRCA2	Conflicting interpretations of pathogenicity	398122731	RCV000077665\|RCV000160207\|RCV000163030\|RCV000531905\|RCV001109420\|RCV001353480\|RCV001703984;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32907377	32907377	13:g.32907377A>G	ClinGen:CA013120	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=)	675	BRCA2	Benign	11571642	RCV000043883\|RCV000112968\|RCV000162709\|RCV000173628\|RCV000397994\|RCV000462260\|RCV000656589\|RCV000770713\|RCV001353850;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32907403	32907403	13:g.32907403T>C	Breast Cancer Information Core (BIC) (BRCA2):2016&base_change=T to C,ClinGen:CA013216	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)	675	BRCA2	Pathogenic	80359306	RCV000031344\|RCV000043896\|RCV000132177\|RCV000203637\|RCV001535574\|RCV002272030\|RCV003162267;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32907421	32907421	13:g.32907421_32907421del	Breast Cancer Information Core (BIC) (BRCA2):2034&base_change=del A,Breast Cancer Information Core (BIC) (BRCA2):2041&base_change=del A,ClinGen:CA013362	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2229T>C (p.His743=)	675	BRCA2	Benign	1801499	RCV000113024\|RCV000130972\|RCV000173973\|RCV000333511\|RCV000381055\|RCV000462704\|RCV000656591\|RCV000755640;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32910721	32910721	13:g.32910721T>C	Breast Cancer Information Core (BIC) (BRCA2):2457&base_change=T to C,ClinGen:CA014685	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2526A>G (p.Val842=)	675	BRCA2	Likely benign	770778164	RCV000164822\|RCV000384673\|RCV000283169\|RCV000495594\|RCV001193281;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|M	13	32911018	32911018	13:g.32911018A>G	ClinGen:CA015560	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=)	675	BRCA2	Benign	11571654	RCV000044011\|RCV000113057\|RCV000162905\|RCV000167797\|RCV000378892\|RCV000656592\|RCV001353445\|RCV001798228;	N	MedGen:CN169374\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911030	32911030	13:g.32911030A>C	Breast Cancer Information Core (BIC) (BRCA2):2766&base_change=A to C,ClinGen:CA015586	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=)	675	BRCA2	Benign/Likely benign	80359785	RCV000044014\|RCV000113060\|RCV000163041\|RCV000286274\|RCV000417797\|RCV000679162\|RCV000769688;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|M	13	32911042	32911042	13:g.32911042A>G	Breast Cancer Information Core (BIC) (BRCA2):2778&base_change=A to G,ClinGen:CA015617	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2596G>A (p.Glu866Lys)	675	BRCA2	Conflicting interpretations of pathogenicity	864622476	RCV000570600\|RCV001109532\|RCV001109533\|RCV001867857;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	13	32911088	32911088	NC_000013.10:g.32911088G>A	ClinGen:CA387772620	C0027672 Hereditary cancer-predisposing syndrome;
NM_000059.4(BRCA2):c.2606C>T (p.Ser869Leu)	675	BRCA2	Conflicting interpretations of pathogenicity	80358523	RCV000113070\|RCV000163028\|RCV001109534\|RCV001339978\|RCV001357214;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|M	13	32911098	32911098	13:g.32911098C>T	ClinGen:CA015810	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser)	675	BRCA2	Benign	2227943	RCV000077285\|RCV000120345\|RCV000162622\|RCV000167848\|RCV000299643\|RCV000656593\|RCV001353953\|RCV003149672;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911278	32911278	13:g.32911278T>C	ClinGen:CA016363	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)	675	BRCA2	Benign/Likely benign	28897716	RCV000044061\|RCV000083092\|RCV000120336\|RCV000129118\|RCV000397028\|RCV000679163\|RCV000768590\|RCV001353683\|RCV002496688;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911295	32911295	13:g.32911295G>A	ClinGen:CA016407	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)	675	BRCA2	Benign	11571655	RCV000044081\|RCV000113110\|RCV000162529\|RCV000168559\|RCV000369425\|RCV000585112\|RCV000768591;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911375	32911375	13:g.32911375G>A	ClinGen:CA016678	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=)	675	BRCA2	Benign	45525041	RCV000044085\|RCV000113113\|RCV000162604\|RCV000168560\|RCV000308141\|RCV000474196\|RCV000586047\|RCV000768592\|RCV001358171;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911411	32911411	13:g.32911411G>A	ClinGen:CA016784	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile)	675	BRCA2	Benign	2227944	RCV000077289\|RCV000120316\|RCV000162623\|RCV000167849\|RCV000365242\|RCV000656594\|RCV001353508\|RCV003149674;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911452	32911452	13:g.32911452A>T	ClinGen:CA016915	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)	675	BRCA2	Benign	80358545	RCV000044098\|RCV000113125\|RCV000130463\|RCV000167829\|RCV000324539\|RCV000679165;	N	MedGen:CN169374\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911479	32911479	13:g.32911479T>G	ClinGen:CA016971	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)	675	BRCA2	Conflicting interpretations of pathogenicity	431825304	RCV000082909\|RCV000222899\|RCV000588617\|RCV000799401\|RCV001113630\|RCV002247480;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911718	32911718	13:g.32911718G>A	ClinGen:CA017586	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=)	675	BRCA2	Benign	36060526	RCV000044161\|RCV000113152\|RCV000152872\|RCV000162497\|RCV000372410\|RCV000474724\|RCV000656595\|RCV000768626\|RCV001353464\|RCV002490603;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32911756	32911756	13:g.32911756T>C	ClinGen:CA017665	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr)	675	BRCA2	Conflicting interpretations of pathogenicity	765232270	RCV000637783\|RCV003338700\|RCV003157798;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32911815	32911815	13:g.32911815A>C	ClinGen:CA6940687	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=)	675	BRCA2	Benign	1801406	RCV000114982\|RCV000113170\|RCV000130987\|RCV000152873\|RCV000337515\|RCV000375777\|RCV000656596;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724	13	32911888	32911888	13:g.32911888A>G	ClinGen:CA017926,Breast Cancer Information Core (BIC) (BRCA2):3624&base_change=A to G	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.3415A>C (p.Lys1139Gln)	675	BRCA2	Conflicting interpretations of pathogenicity	747903103	RCV000293210\|RCV000350466\|RCV003157506;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32911907	32911907	NC_000013.10:g.32911907A>C	ClinGen:CA10643168	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.3447G>A (p.Met1149Ile)	675	BRCA2	Conflicting interpretations of pathogenicity	876660471	RCV000221868\|RCV000696715\|RCV001109616\|RCV001109617\|RCV002478813\|RCV003150129;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|M	13	32911939	32911939	13:g.32911939G>A	ClinGen:CA10579578	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.3495T>C (p.His1165=)	675	BRCA2	Benign	776655838	RCV000167473\|RCV000343589\|RCV000395567\|RCV000495612\|RCV000604215;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|M	13	32911987	32911987	13:g.32911987T>C	ClinGen:CA018171	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.3497T>A (p.Val1166Asp)	675	BRCA2	Conflicting interpretations of pathogenicity	762886975	RCV000166339\|RCV000309640\|RCV000366646\|RCV001094081\|RCV001356826;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|M	13	32911989	32911989	13:g.32911989T>A	ClinGen:CA018181	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=)	675	BRCA2	Benign	1799952	RCV000044214\|RCV000113188\|RCV000162494\|RCV000168565\|RCV000268403\|RCV000656597\|RCV000768627\|RCV002477145;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32912008	32912008	13:g.32912008G>A	Breast Cancer Information Core (BIC) (BRCA2):3744&base_change=G to A,ClinGen:CA018238	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=)	675	BRCA2	Benign	543304	RCV000130362\|RCV000113220\|RCV000152874\|RCV000316398\|RCV000354795\|RCV000476701\|RCV000656598;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32912299	32912299	13:g.32912299T>C	Breast Cancer Information Core (BIC) (BRCA2):4035&base_change=T to C,ClinGen:CA018842	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)	675	BRCA2	Conflicting interpretations of pathogenicity	1469541725	RCV001220912\|RCV001535557\|RCV003158527;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145; MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32912308	32912308	13:g.32912308G>C	-
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr)	675	BRCA2	Conflicting interpretations of pathogenicity	80358625	RCV000044272\|RCV000083101\|RCV000132466\|RCV000985512\|RCV001112374\|RCV002271387;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32912316	32912316	13:g.32912316T>C	ClinGen:CA018880	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr)	675	BRCA2	Benign	41293485	RCV000113233\|RCV000120338\|RCV000128895\|RCV000167839\|RCV000319921\|RCV000467710\|RCV000514107\|RCV003149596;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32912361	32912361	13:g.32912361G>A	ClinGen:CA019036	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)	675	BRCA2	Benign	28897724	RCV000044340\|RCV000113269\|RCV000162367\|RCV000168569\|RCV000385860\|RCV000513194\|RCV000768629\|RCV001262741\|RCV001353901;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32912560	32912560	13:g.32912560G>A	Breast Cancer Information Core (BIC) (BRCA2):4296&base_change=G to A,ClinGen:CA019458	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu)	675	BRCA2	Benign	56248502	RCV000044344\|RCV000113272\|RCV000120319\|RCV000131014\|RCV000389513\|RCV000469910\|RCV000656601\|RCV000770724;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32912582	32912582	13:g.32912582A>C	ClinGen:CA019496	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met)	675	BRCA2	Benign	70953664	RCV000113286\|RCV000120327\|RCV000162766\|RCV000167832\|RCV000346290\|RCV000656603\|RCV001353946;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32912733	32912733	13:g.32912733C>T	ClinGen:CA019759	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4515_4525del (p.Phe1506fs)	675	BRCA2	Pathogenic	863224827	RCV000199893\|RCV000240973\|RCV000575412\|RCV001729453\|RCV003474965;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|M	13	32913004	32913014	NC_000013.10:g.32913007_32913017del	ClinGen:CA338948	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys)	675	BRCA2	Conflicting interpretations of pathogenicity	80358684	RCV000044428\|RCV000113312\|RCV000130950\|RCV000755874\|RCV001113729\|RCV003230379\|RCV003153336;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32913026	32913026	13:g.32913026C>T	ClinGen:CA020333	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=)	675	BRCA2	Benign	206075	RCV000119245\|RCV000132170\|RCV000152875\|RCV000257902\|RCV000340564\|RCV000461053\|RCV000656604\|RCV001354028;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32913055	32913055	13:g.32913055A>G	ClinGen:CA020461	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)	675	BRCA2	Likely benign	80359788	RCV000044445\|RCV000113323\|RCV000123973\|RCV000163135\|RCV000305604\|RCV000471202\|RCV000679173\|RCV000769693\|RCV001353832;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32913076	32913076	13:g.32913076C>T	ClinGen:CA020487	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)	675	BRCA2	Pathogenic	80359460	RCV000031494\|RCV000044455\|RCV000130639\|RCV000160290\|RCV001535778\|RCV003473178;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32913119	32913119	13:g.32913119_32913119del	Breast Cancer Information Core (BIC) (BRCA2):4859&base_change=del A,ClinGen:CA020560	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter)	675	BRCA2	Pathogenic	80358695	RCV000009935\|RCV000044460\|RCV000113326\|RCV000571951\|RCV001530923\|RCV003473074;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|M	13	32913140	32913140	13:g.32913140G>T	ClinGen:CA020587,OMIM:600185.0029	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=)	675	BRCA2	Likely benign	28897730	RCV000123977\|RCV000162568\|RCV000195757\|RCV000299697\|RCV000495537\|RCV000585192\|RCV000769697;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:61255	13	32913178	32913178	13:g.32913178A>G	ClinGen:CA020646	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter)	675	BRCA2	Pathogenic/Likely pathogenic	2137509604	RCV001806374\|RCV002541449;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	13	32913225	32913225	32913225	-
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)	675	BRCA2	Pathogenic	1593903422	RCV000799227\|RCV001028061;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32913278	32913278	13:g.32913278_32913278del	-
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met)	675	BRCA2	Conflicting interpretations of pathogenicity	80358705	RCV000031508\|RCV000044498\|RCV000074530\|RCV000130783\|RCV001112023\|RCV001353552;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32913320	32913320	13:g.32913320G>A	ClinGen:CA020880	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter)	675	BRCA2	Pathogenic	80358721	RCV000031517\|RCV000044533\|RCV000128925\|RCV000194794\|RCV000195354\|RCV000496311\|RCV000762918\|RCV000785221\|RCV001269282\|RCV001353669\|RCV003473182;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462; MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555	13	32913457	32913457	13:g.32913457C>G	ClinGen:CA021070	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.4991T>C (p.Ile1664Thr)	675	BRCA2	Conflicting interpretations of pathogenicity	863224590	RCV000198889\|RCV000571680\|RCV001334182;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32913483	32913483	NC_000013.10:g.32913483T>C	ClinGen:CA338267	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=)	675	BRCA2	Benign	28897734	RCV000044603\|RCV000113396\|RCV000152876\|RCV000162368\|RCV000277308\|RCV000475668\|RCV000488323\|RCV000768598\|RCV002477147;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32913691	32913691	13:g.32913691C>T	Breast Cancer Information Core (BIC) (BRCA2):5427&base_change=C to T,ClinGen:CA021671	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.5267T>A (p.Val1756Glu)	675	BRCA2	Conflicting interpretations of pathogenicity	770664957	RCV000216072\|RCV000985541\|RCV001112466\|RCV001112024\|RCV001854705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32913759	32913759	13:g.32913759T>A	ClinGen:CA6940863	C0027672 Hereditary cancer-predisposing syndrome;
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=)	675	BRCA2	Likely benign	199879914	RCV000122915\|RCV000162513\|RCV000329212\|RCV000456829\|RCV000495454\|RCV000585978\|RCV001175341;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22753	13	32913760	32913760	13:g.32913760A>G	ClinGen:CA021893	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)	675	BRCA2	Conflicting interpretations of pathogenicity	80358765	RCV000113427\|RCV000131487\|RCV000590661\|RCV000855580\|RCV001112467\|RCV001358175\|RCV000044656;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0007254,MedGen:C000	13	32913906	32913906	13:g.32913906A>G	ClinGen:CA022277	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=)	675	BRCA2	Benign	34351119	RCV000119248\|RCV000152877\|RCV000162496\|RCV000205532\|RCV000278816\|RCV000456283\|RCV000656608\|RCV000768630\|RCV001353956\|RCV002477303;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32913910	32913910	13:g.32913910A>G	ClinGen:CA022290	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.5453C>A (p.Ser1818Ter)	675	BRCA2	Pathogenic	1566232471	RCV000761285\|RCV001024132;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32913945	32913945	NC_000013.10:g.32913945C>A	-
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)	675	BRCA2	Pathogenic	80359520	RCV000031556\|RCV000044684\|RCV000131118\|RCV000160296\|RCV000509336\|RCV000735566\|RCV001289538\|RCV001353722\|RCV003162273;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32914068	32914071	13:g.32914066_32914069del	Breast Cancer Information Core (BIC) (BRCA2):5803&base_change=del ATTA,Breast Cancer Information Core (BIC) (BRCA2):5804&base_change=del TTAA,ClinGen:CA0	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.5602G>A (p.Asp1868Asn)	675	BRCA2	Conflicting interpretations of pathogenicity	80358781	RCV000509970\|RCV000692500\|RCV001113817\|RCV001113818;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32914094	32914094	13:g.32914094G>A	ClinGen:CA387786063	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.5604C>T (p.Asp1868=)	675	BRCA2	Conflicting interpretations of pathogenicity	1401654517	RCV000774480\|RCV001113819\|RCV001113820\|RCV001464209;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	13	32914096	32914096	NC_000013.10:g.32914096C>T	-
NM_000059.4(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter)	675	BRCA2	Pathogenic	276174859	RCV000009924\|RCV000044694\|RCV000113449\|RCV000129595\|RCV000214770\|RCV000255347\|RCV001310124\|RCV003473362;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|M	13	32914101	32914102	NC_000013.10:g.32914101_32914102delinsAG	ClinGen:CA022697,OMIM:600185.0021	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys)	675	BRCA2	Conflicting interpretations of pathogenicity	55996097	RCV000077357\|RCV000129072\|RCV000167807\|RCV000168580\|RCV000336386\|RCV000755862;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32914127	32914127	13:g.32914127G>A	ClinGen:CA022780	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn)	675	BRCA2	Benign	4987048	RCV000113464\|RCV000120340\|RCV000131020\|RCV000167833\|RCV000314320\|RCV000424920\|RCV000462033\|RCV000735573;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32914196	32914196	13:g.32914196G>A	ClinGen:CA023014	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val)	675	BRCA2	Benign	79538375	RCV000031578\|RCV000044755\|RCV000162909\|RCV000173974\|RCV001110579\|RCV001762065\|RCV002490438\|RCV003237416;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32914277	32914277	13:g.32914277A>G	ClinGen:CA023228	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)	675	BRCA2	Conflicting interpretations of pathogenicity	55877890	RCV000531811\|RCV000568300\|RCV003447541;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32914430	32914430	NC_000013.10:g.32914430A>C	ClinGen:CA6940915	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)	675	BRCA2	Pathogenic	80359550	RCV000009911\|RCV000009910\|RCV000009912\|RCV000034451\|RCV000044800\|RCV000129627\|RCV000212245\|RCV000367838\|RCV000414179\|RCV000768632\|RCV000785226\|RCV001535431\|RCV003128125;	Y	MONDO:MONDO:0013235,MedGen:C3150546,OMIM:613347, Orphanet:1333\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MOND	13	32914438	32914438	NC_000013.10:g.32914438del	Breast Cancer Information Core (BIC) (BRCA2):6174&base_change=del T,ClinGen:CA023403,OMIM:600185.0005,OMIM:600185.0009	CN239275 BRCA2-Related Disorders;
NM_000059.4(BRCA2):c.5986G>A (p.Ala1996Thr)	675	BRCA2	Conflicting interpretations of pathogenicity	80358833	RCV000044813\|RCV000077366\|RCV000129689\|RCV000195331\|RCV000318984\|RCV000859013;	N	MedGen:CN169374\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32914478	32914478	13:g.32914478G>A	ClinGen:CA023455	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6101G>A (p.Arg2034His)	675	BRCA2	Conflicting interpretations of pathogenicity	80358849	RCV000083122\|RCV000120341\|RCV000166225\|RCV001110580\|RCV001529429\|RCV001374119;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D06132	13	32914593	32914593	13:g.32914593G>A	ClinGen:CA023655	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro)	675	BRCA2	Conflicting interpretations of pathogenicity	56172926	RCV000044901\|RCV000077370\|RCV000131282\|RCV001085349\|RCV001112565\|RCV001705700;	N	MedGen:CN169374\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32914809	32914809	13:g.32914809T>C	ClinGen:CA023867	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)	675	BRCA2	Conflicting interpretations of pathogenicity	55953736	RCV000219720\|RCV001071124\|RCV001311839\|RCV001535551;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145; MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,	13	32914839	32914839	13:g.32914839A>T	ClinGen:CA10579690	C0027672 Hereditary cancer-predisposing syndrome;
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=)	675	BRCA2	Benign	206076	RCV000119246\|RCV000162377\|RCV000152878\|RCV000257903\|RCV000261979\|RCV000464673\|RCV000656614\|RCV001353926;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32915005	32915005	13:g.32915005G>C	ClinGen:CA024126	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe)	675	BRCA2	Conflicting interpretations of pathogenicity	398122560	RCV000076969\|RCV000131800\|RCV000160235\|RCV000234409\|RCV001109883;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32915032	32915032	13:g.32915032G>C	ClinGen:CA024153	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6713A>G (p.Asp2238Gly)	675	BRCA2	Conflicting interpretations of pathogenicity	80358895	RCV000113631\|RCV000130198\|RCV000212251\|RCV000656798\|RCV001110667\|RCV001351104;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D06132	13	32915205	32915205	13:g.32915205A>G	ClinGen:CA024315	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg)	675	BRCA2	Conflicting interpretations of pathogenicity	80358904	RCV000077383\|RCV000162802\|RCV000225748\|RCV001110668\|RCV001284581\|RCV001818218;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|M	13	32915277	32915277	13:g.32915277T>G	ClinGen:CA024407	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6886A>C (p.Ile2296Leu)	675	BRCA2	Conflicting interpretations of pathogenicity	576279166	RCV000132216\|RCV000203848\|RCV000353391\|RCV000410842\|RCV000479638\|RCV001284584;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|M	13	32918739	32918739	13:g.32918739A>C	ClinGen:CA024540	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn)	675	BRCA2	Uncertain significance	276174886	RCV000113672\|RCV000487181\|RCV000563131\|RCV001322299\|RCV003338397\|RCV003319303;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32918782	32918782	13:g.32918782C>A	ClinGen:CA024564	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)	675	BRCA2	Benign	80358916	RCV000045088\|RCV000113673\|RCV000163021\|RCV000243078\|RCV000328837\|RCV000586654\|RCV002496694;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32918788	32918788	13:g.32918788A>T	ClinGen:CA024570	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	675	BRCA2	Pathogenic	28897743	RCV000009923\|RCV000031659\|RCV000045112\|RCV000131031\|RCV000174440\|RCV000475925\|RCV000735595\|RCV001001799\|RCV002496486;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|M	13	32921033	32921033	13:g.32921033G>A	OMIM:600185.0020,ClinGen:CA024713	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn)	675	BRCA2	Benign	45574331	RCV000113692\|RCV000120355\|RCV000128918\|RCV000167851\|RCV000383466\|RCV000465613\|RCV000514662\|RCV000768605\|RCV001353904\|RCV002504934;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32929007	32929007	13:g.32929007G>C	ClinGen:CA024755	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7034A>G (p.Gln2345Arg)	675	BRCA2	Uncertain significance	876661187	RCV000222987\|RCV001112648\|RCV001112649;	N	MedGen:CN517202\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32929024	32929024	13:g.32929024A>G	ClinGen:CA10577488	CN169374 not specified;
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly)	675	BRCA2	Benign/Likely benign	80358932	RCV000031663\|RCV000120352\|RCV000131678\|RCV000167842\|RCV000343881\|RCV000587020\|RCV001353781\|RCV001798052\|RCV002250490;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32929042	32929042	13:g.32929042C>G	ClinGen:CA024806	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg)	675	BRCA2	Benign	80358935	RCV000113701\|RCV000120356\|RCV000130876\|RCV000203630\|RCV000294899\|RCV000590450\|RCV000735599;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32929047	32929047	NC_000013.10:g.32929047G>C	ClinGen:CA024818	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7104G>A (p.Leu2368=)	675	BRCA2	Likely benign	764698623	RCV000495712\|RCV000529923\|RCV000567000\|RCV001114004;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32929094	32929094	13:g.32929094G>A	ClinGen:CA6941059	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=)	675	BRCA2	Benign	1799955	RCV000113739\|RCV000152882\|RCV000130994\|RCV000336026\|RCV000394273\|RCV000474663\|RCV000656617;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32929232	32929232	13:g.32929232A>G	Breast Cancer Information Core (BIC) (BRCA2):7470&base_change=A to G,ClinGen:CA024992	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.3(BRCA2):c.7435+10G>A	675	BRCA2	Conflicting interpretations of pathogenicity	81002793	RCV000045210\|RCV000113755\|RCV000426181\|RCV000302479\|RCV000579409;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,O	13	32929435	32929435	13:g.32929435G>A	Breast Cancer Information Core (BIC) (BRCA2):7663+10&base_change=G to A,ClinGen:CA025078	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7464_7465insTA (p.Asp2489Ter)	675	BRCA2	Pathogenic	886038169	RCV000009921\|RCV000241322;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32930592	32930593	13:g.32930592_32930593insAT	ClinGen:CA10586575,OMIM:600185.0018	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7464A>C (p.Arg2488Ser)	675	BRCA2	Conflicting interpretations of pathogenicity	80358969	RCV000113764\|RCV000164219\|RCV000759655\|RCV001110755\|RCV001305633;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32930593	32930593	13:g.32930593A>C	ClinGen:CA025098	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro)	675	BRCA2	Pathogenic	80358979	RCV000009936\|RCV000113772\|RCV000478444\|RCV000509658\|RCV001290186;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32930658	32930658	13:g.32930658T>C	ClinGen:CA025134,OMIM:600185.0030	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer)	675	BRCA2	Pathogenic	1555286294	RCV000584149\|RCV000680273\|RCV001860076;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	13	32930708	32930708	13:g.32930708_32930708del	ClinGen:CA658683852	C1838457 605724 Fanconi anemia, complementation group D1;
NM_000059.4(BRCA2):c.7806-14T>C	675	BRCA2	Benign	9534262	RCV000132168\|RCV000113823\|RCV000152883\|RCV000331967\|RCV000386451\|RCV000459462\|RCV001811402\|RCV001798289;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32936646	32936646	NC_000013.10:g.32936646T>C	Breast Cancer Information Core (BIC) (BRCA2):8034-14&base_change=T to C,ClinGen:CA025287	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.7976+12G>A	675	BRCA2	Conflicting interpretations of pathogenicity	81002827	RCV000045362\|RCV000113847\|RCV000129688\|RCV000195308\|RCV000293235\|RCV001353771;	N	MedGen:CN169374\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32936842	32936842	13:g.32936842G>A	Breast Cancer Information Core (BIC) (BRCA2):8204+12&base_change=G to A,ClinGen:CA025363	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)	675	BRCA2	Conflicting interpretations of pathogenicity	756105620	RCV000335958\|RCV000586599\|RCV000510067\|RCV000530767\|RCV001535652;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462; MONDO:MONDO:0003582,MeSH:D0613	13	32937452	32937452	13:g.32937452A>G	ClinGen:CA6941189	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.8154T>C (p.Ile2718=)	675	BRCA2	Likely benign	148880015	RCV000124006\|RCV000163230\|RCV000411296\|RCV001084044\|RCV001114097;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32937493	32937493	13:g.32937493T>C	ClinGen:CA025474	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)	675	BRCA2	Benign	80359065	RCV000009925\|RCV000045445\|RCV000113885\|RCV000120363\|RCV000129090\|RCV000735610\|RCV001353739\|RCV002250493;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,O	13	32937526	32937526	13:g.32937526G>T	ClinGen:CA025498,OMIM:600185.0022	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile)	675	BRCA2	Conflicting interpretations of pathogenicity	80359069	RCV000045453\|RCV000077431\|RCV000129733\|RCV000214196\|RCV001110061\|RCV001080912\|RCV001353878\|RCV003149693\|RCV003421957;	N	MedGen:C3661900\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D06132	13	32937554	32937554	13:g.32937554G>A	ClinGen:CA025521	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8219T>A (p.Leu2740Ter)	675	BRCA2	Pathogenic	80359070	RCV000009934\|RCV000113889\|RCV000236578\|RCV001380789;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	13	32937558	32937558	13:g.32937558T>A	ClinGen:CA025524,OMIM:600185.0028	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)	675	BRCA2	Conflicting interpretations of pathogenicity	80359094	RCV000566230\|RCV001320393\|RCV001821668\|RCV003227793\|RCV003234782;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:61255	13	32944659	32944659	NC_000013.10:g.32944659G>T	ClinGen:CA387752584	C0027672 Hereditary cancer-predisposing syndrome;
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=)	675	BRCA2	Benign	9590940	RCV000045525\|RCV000113937\|RCV000128993\|RCV000152884\|RCV000404467\|RCV000470439\|RCV001711222\|RCV002477152;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32944667	32944667	13:g.32944667A>C	ClinGen:CA025653	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8488-1G>A	675	BRCA2	Pathogenic	397507404	RCV000009920\|RCV000031747\|RCV000160152\|RCV000213906\|RCV000231355\|RCV000763329\|RCV002221480\|RCV003162283\|RCV003473221;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32945092	32945092	13:g.32945092G>A	ClinGen:CA025677,OMIM:600185.0017	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8530G>A (p.Glu2844Lys)	675	BRCA2	Conflicting interpretations of pathogenicity	755783122	RCV000215245\|RCV000232530\|RCV000307069\|RCV000503308\|RCV000662587;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0012933,MedGen	13	32945135	32945135	13:g.32945135G>A	ClinGen:CA6941257	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8732C>A (p.Ala2911Glu)	675	BRCA2	Uncertain significance	80359130	RCV000009926\|RCV003114180;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	13	32950906	32950906	NC_000013.10:g.32950906C>A	ClinGen:CA025796,OMIM:600185.0023	C1838457 605724 Fanconi anemia, complementation group D1;
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val)	675	BRCA2	Conflicting interpretations of pathogenicity	373227180	RCV000130462\|RCV000233879\|RCV000356690\|RCV000409083\|RCV000780004\|RCV001775622\|RCV003390819;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|M	13	32953524	32953524	13:g.32953524C>T	ClinGen:CA025840	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg)	675	BRCA2	Uncertain significance	587781800	RCV000130065\|RCV000410010\|RCV000462799\|RCV000487119\|RCV001112819\|RCV001193118;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32953533	32953533	13:g.32953533A>G	ClinGen:CA025844	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met)	675	BRCA2	Benign	59004709	RCV000077456\|RCV000163015\|RCV000168609\|RCV001080800\|RCV001112821\|RCV001353409\|RCV001719798\|RCV001798242;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32953604	32953604	13:g.32953604G>A	ClinGen:CA025866	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)	675	BRCA2	Conflicting interpretations of pathogenicity	80359161	RCV000129295\|RCV000114042\|RCV000758971\|RCV001055261\|RCV001568367\|RCV003460793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32954015	32954015	13:g.32954015G>C	ClinGen:CA025963	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu)	675	BRCA2	Conflicting interpretations of pathogenicity	202155613	RCV000031795\|RCV000074559\|RCV000223314\|RCV000289162\|RCV000344086\|RCV002250496\|RCV002271381;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32954039	32954039	13:g.32954039C>G	ClinGen:CA025983	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.9196C>T (p.Gln3066Ter)	675	BRCA2	Pathogenic	80359180	RCV000009941\|RCV000077463\|RCV000131052\|RCV000210196\|RCV000235644\|RCV000257912\|RCV001357808\|RCV003460449;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145\|Me	13	32954222	32954222	13:g.32954222C>T	ClinGen:CA026028,OMIM:600185.0032	C2676676 604370 Breast-ovarian cancer, familial 1;
NM_000059.4(BRCA2):c.9246dup (p.Lys3083fs)	675	BRCA2	Pathogenic	886038189	RCV000241025\|RCV000460386\|RCV000483716\|RCV000569477\|RCV003387517\|RCV003463713;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32954271	32954272	13:g.32954271_32954272insG	ClinGen:CA10586595	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu)	675	BRCA2	Conflicting interpretations of pathogenicity	587776476	RCV000129373\|RCV000144220\|RCV000499802\|RCV001114170\|RCV001088631\|RCV001353675;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	13	32969002	32969002	13:g.32969002G>C	ClinGen:CA026155	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala)	675	BRCA2	Conflicting interpretations of pathogenicity	587782568	RCV000131791\|RCV000483383\|RCV000657154\|RCV001110138\|RCV001110139\|RCV001082356;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D06132	13	32969062	32969062	13:g.32969062A>G	ClinGen:CA026176	C0677776 Hereditary breast and ovarian cancer syndrome;
NM_000059.4(BRCA2):c.9502-12T>G	675	BRCA2	Benign	81002803	RCV000045842\|RCV000114123\|RCV000131584\|RCV000589086\|RCV001110141\|RCV001358665\|RCV002272043;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32971023	32971023	13:g.32971023T>G	Breast Cancer Information Core (BIC) (BRCA2):9730-12&base_change=T to G,ClinGen:CA026188	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.9606G>A (p.Pro3202=)	675	BRCA2	Likely benign	755890067	RCV000164400\|RCV000460818\|RCV000495294\|RCV000504386\|RCV001110896\|RCV001087565;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0003582,MeSH:D06132	13	32971139	32971139	13:g.32971139G>A	ClinGen:CA026230	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs)	675	BRCA2	Pathogenic	80359773	RCV000009922\|RCV000114151\|RCV000130631\|RCV000197712\|RCV000372727\|RCV001353641\|RCV003390793\|RCV003460795;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|M	13	32972321	32972322	13:g.32972321_32972322insA	OMIM:600185.0019,Breast Cancer Information Core (BIC) (BRCA2):9900&base_change=ins A,ClinGen:CA026263	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.9693del (p.Leu3232fs)	675	BRCA2	Pathogenic	1566260827	RCV000680274;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32972343	32972343	13:g.32972343_32972343del	-	C1838457 605724 Fanconi anemia, complementation group D1;
NM_000059.4(BRCA2):c.9760A>G (p.Lys3254Glu)	675	BRCA2	Uncertain significance	2073050616	RCV001110898\|RCV001110897;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32972410	32972410	13:g.32972410A>G	-
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)	675	BRCA2	Benign	56121817	RCV000045908\|RCV000077478\|RCV000131346\|RCV000195340\|RCV000301085\|RCV000513762\|RCV001357526\|RCV002250524;	N	MedGen:CN169374\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32972525	32972525	13:g.32972525C>T	ClinGen:CA026319	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)	675	BRCA2	Benign	28897762	RCV000043713\|RCV000112841\|RCV000162524\|RCV000168619\|RCV000260989\|RCV000464865\|RCV000656626\|RCV000768612;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724,O	13	32972760	32972760	13:g.32972760G>A	ClinGen:CA010263	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*50A>G	675	BRCA2	Uncertain significance	761312704	RCV000322262\|RCV000376854;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32972957	32972957	NC_000013.10:g.32972957A>G	ClinGen:CA6941496	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*105A>C	675	BRCA2	Benign	15869	RCV000112856\|RCV000273093\|RCV000585691\|RCV001811401\|RCV002319438;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32973012	32973012	13:g.32973012A>C	Breast Cancer Information Core (BIC) (BRCA2):10590&base_change=A to C,ClinGen:CA010709	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*134C>T	675	BRCA2	Uncertain significance	1228334381	RCV001110233\|RCV001114254;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32973041	32973041	13:g.32973041C>T	-
NM_000059.4(BRCA2):c.*172G>A	675	BRCA2	Conflicting interpretations of pathogenicity	574944914	RCV000288738\|RCV000382792\|RCV002262972;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:C3661900	13	32973079	32973079	NC_000013.10:g.32973079G>A	ClinGen:CA10634119	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*248T>C	675	BRCA2	Likely benign	542356535	RCV000350694\|RCV000388870;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973155	32973155	NC_000013.10:g.32973155T>C	ClinGen:CA10644143	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*271C>A	675	BRCA2	Uncertain significance	868342410	RCV001110234\|RCV001110235;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973178	32973178	13:g.32973178C>A	-
NM_000059.4(BRCA2):c.*292A>C	675	BRCA2	Uncertain significance	886050112	RCV000292137\|RCV000349435;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973199	32973199	13:g.32973199A>C	ClinGen:CA10643170	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*295C>G	675	BRCA2	Benign	11571834	RCV000191871\|RCV000297879;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973202	32973202	NC_000013.10:g.32973202C>G	ClinGen:CA276890	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*369A>G	675	BRCA2	Benign	7334543	RCV000191872\|RCV000309611\|RCV000585726\|RCV002399709;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	32973276	32973276	13:g.32973276A>G	ClinGen:CA276891	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*382A>G	675	BRCA2	Likely benign	559790882	RCV000269374\|RCV000366317;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973289	32973289	13:g.32973289A>G	ClinGen:CA10639299	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*390A>G	675	BRCA2	Benign	56003538	RCV000191874\|RCV000388239;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973297	32973297	13:g.32973297A>G	ClinGen:CA276893	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*397C>A	675	BRCA2	Benign	11571835	RCV000191875\|RCV000330314;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973304	32973304	13:g.32973304C>A	ClinGen:CA276894	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*399T>C	675	BRCA2	Uncertain significance	886050115	RCV000281214\|RCV000387262;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32973306	32973306	13:g.32973306T>C	ClinGen:CA10644151	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*532A>G	675	BRCA2	Benign	11571836	RCV000191876\|RCV000341382\|RCV001682902;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MedGen:C3661900	13	32973439	32973439	NC_000013.10:g.32973439A>G	ClinGen:CA276895	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*545T>C	675	BRCA2	Uncertain significance	536333595	RCV000282839\|RCV000403607;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32973452	32973452	13:g.32973452T>C	ClinGen:CA10643178	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*623C>T	675	BRCA2	Uncertain significance	145550800	RCV001114342\|RCV001114341;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973530	32973530	13:g.32973530C>T	-
NM_000059.4(BRCA2):c.*696G>A	675	BRCA2	Uncertain significance	886050118	RCV000310217\|RCV000362569;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32973603	32973603	13:g.32973603G>A	ClinGen:CA10644171	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*753C>T	675	BRCA2	Uncertain significance	190094748	RCV000313810\|RCV000397227;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32973660	32973660	13:g.32973660C>T	ClinGen:CA10634121	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*839T>C	675	BRCA2	Likely benign	76358429	RCV000331229\|RCV000355634\|RCV001311846;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MedGen:C3661900	13	32973746	32973746	13:g.32973746T>C	ClinGen:CA10639302	C0015625 Fanconi anemia;
NM_000059.4(BRCA2):c.*841A>G	675	BRCA2	Benign	186619625	RCV000254904\|RCV000259887;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973748	32973748	13:g.32973748A>G	ClinGen:CA10588180	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*842A>G	675	BRCA2	Benign	192347116	RCV000254877\|RCV000378951;	N	MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145\|MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462	13	32973749	32973749	NC_000013.10:g.32973749A>G	ClinGen:CA10588181	C2675520 612555 Breast-ovarian cancer, familial 2;
NM_000059.4(BRCA2):c.*854T>C	675	BRCA2	Uncertain significance	572993583	RCV000321035\|RCV000377946;	N	MONDO:MONDO:0011584,MedGen:C1838457,OMIM:605724, Orphanet:319462\|MONDO:MONDO:0012933,MedGen:C2675520,OMIM:612555, Orphanet:145	13	32973761	32973761	13:g.32973761T>C	ClinGen:CA10639306	C0015625 Fanconi anemia;

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