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: Eye Diseases, Hereditary (D015785)
Parent Node: Neoplasms, Neuroepithelial (D018302)
Parent Node: Retinal Neoplasms (D019572)
..Starting node ..Retinoblastoma (D012175)
Child Nodes:
........CHROMOSOME 13q14 DELETION SYNDROME (OMIM:613884)
........Osteosarcoma, Retinoblastoma-Related (C566714)
Sister Nodes:
..Retinoblastoma (D012175) 2
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

10778

Name:

Retinoblastoma

Definition:

A malignant tumor arising from the nuclear layer of the retina that is the most common primary tumor of the eye in children. The tumor tends to occur in early childhood or infancy and may be present at birth. The majority are sporadic, but the condition may be transmitted as an autosomal dominant trait. Histologic features include dense cellularity, small round polygonal cells, and areas of calcification and necrosis. An abnormal pupil reflex (leukokoria); NYSTAGMUS, PATHOLOGIC; STRABISMUS; and visual loss represent common clinical characteristics of this condition. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2104)

Alternative IDs:

DO:DOID:4648|DO:DOID:768|OMIM:180200

ParentIDs:

MESH:D015785|MESH:D018302|MESH:D019572

TreeNumbers:

C04.557.465.625.600.725 |C04.557.470.670.725 |C04.557.580.625.600.725 |C04.588.364.818.760 |C11.270.862 |C11.319.475.760 |C11.768.717.760

Synonyms:

Slim Mappings:

Cancer|Eye disease

Reference:

MedGen: D012175
MeSH: D012175
OMIM: 180200;
MSeqDR :
Genes: RB1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000175	Cleft palate
3	HP:0012254	Ewing's sarcoma
4	HP:0001909	Leukemia
5	HP:0000555	Leukocoria
6	HP:0002665	Lymphoma
7	HP:0002669	Osteosarcoma
8	HP:0010799	Pinealoma
9	HP:0007862	Retinal calcification
10	HP:0009919	Retinoblastoma
11	HP:0001428	Somatic mutation
12	HP:0003745	Sporadic
13	HP:0007902	Vitreous hemorrhage
14	HP:0011531	Vitritis	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000077.5(CDKN2A):c.392G>A (p.Arg131His)	1029	CDKN2A	Uncertain significance	1563888782	RCV000761090\|RCV001346270\|RCV002352273;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	21970966	21970966	NC_000009.11:g.21970966C>T	-
NM_020937.4(FANCM):c.4826_4827del (p.Asp1609fs)	57697	FANCM	Likely pathogenic	1375421660	RCV000761170;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	14	45658051	45658052	NC_000014.8:g.45658051_45658052del	-
NM_001162498.3(LPAR6):c.361_362insGTAT (p.Pro121fs)	10161	LPAR6	Benign	1236830240	RCV000989123;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986198	48986199	13:g.48986198_48986199insATAC	-
NM_001162498.3(LPAR6):c.359del (p.Tyr120fs)	10161	LPAR6	Benign	1275629547	RCV000989124;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986201	48986201	13:g.48986201_48986201del	-
NM_001162498.3(LPAR6):c.358T>G (p.Tyr120Asp)	10161	LPAR6	Benign	1344531248	RCV000989125;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986202	48986202	13:g.48986202A>C	-
NM_001162498.3(LPAR6):c.354T>G (p.Ile118Met)	10161	LPAR6	Benign	1458608158	RCV000989126;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986206	48986206	13:g.48986206A>C	-
NM_001162498.3(LPAR6):c.350_352del (p.Ala117_Ile118delinsVal)	10161	LPAR6	Benign	1200570253	RCV000989127;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986208	48986210	13:g.48986208_48986210del	-
NM_001162498.3(LPAR6):c.347del (p.Leu116fs)	10161	LPAR6	Benign	1404056158	RCV000989128;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986213	48986213	13:g.48986213_48986213del	-
NM_001162498.3(LPAR6):c.341_344del (p.Arg114fs)	10161	LPAR6	Benign	1198561901	RCV000989129;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986216	48986219	13:g.48986216_48986219del	-
NM_001162498.3(LPAR6):c.921G>T (p.Trp307Cys)	-1	LPAR6;RB1	Benign/Likely benign	17071686	RCV000954285\|RCV000989118\|RCV003320482;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	48985639	48985639	13:g.48985639C>A	-
NM_002382.5(MAX):c.397G>A (p.Ala133Thr)	4149	MAX	Conflicting interpretations of pathogenicity	750459929	RCV000227155\|RCV000567888\|RCV000761172\|RCV001111565;	N	MONDO:MONDO:0017366,MedGen:C1708353, Orphanet:29072\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|Human Phenotype Ontology:HP	14	65543280	65543280	14:g.65543280C>T	ClinGen:CA7232798	C0027672 Hereditary cancer-predisposing syndrome;
NM_001042492.3(NF1):c.5255A>G (p.Lys1752Arg)	4763	NF1	Uncertain significance	864622373	RCV000206031\|RCV000761161\|RCV001753612\|RCV002317736;	N	MONDO:MONDO:0018975,MedGen:C0027831,OMIM:162200, Orphanet:636\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162; M	17	29653257	29653257	17:g.29653257A>G	ClinGen:CA350098	C0027672 Hereditary cancer-predisposing syndrome;
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val)	79728	PALB2	Conflicting interpretations of pathogenicity	146434474	RCV000200861\|RCV000255070\|RCV000562823\|RCV000761148\|RCV001194137\|RCV002492922\|RCV003390943;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:79	16	23646530	23646530	16:g.23646530T>A	ClinGen:CA339587	C0346153 114480 Familial cancer of breast;
NM_000264.5(PTCH1):c.4303G>A (p.Val1435Met)	5727	PTCH1	Uncertain significance	587778632	RCV000121902\|RCV000761023\|RCV001022254\|RCV001036592;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:109400, Orphanet:377	9	98209235	98209235	9:g.98209235C>T	ClinGen:CA161744	CN169374 not specified;
NM_000264.5(PTCH1):c.1028T>C (p.Val343Ala)	5727	PTCH1	Uncertain significance	962982192	RCV000761122\|RCV000812856\|RCV001017060\|RCV003411702;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:109400, Orphanet:377\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	9	98242290	98242290	NC_000009.11:g.98242290A>G	-
NM_000264.5(PTCH1):c.209C>T (p.Ala70Val)	5727	PTCH1	Uncertain significance	764137082	RCV000761112\|RCV000820241\|RCV001357103\|RCV002422647;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0007187,MedGen:C0004779,OMIM:109400, Orphanet:377\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98268874	98268874	NC_000009.11:g.98268874G>A	-
NC_000013.11:g.(?_48037747)_(48480071_?)del	5925	RB1	Pathogenic	-1	RCV001031475;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48611883	49054207	-1	-
NC_000013.10:g.(?_48611883)_(49054207_?)dup	5925	RB1	Uncertain significance	-1	RCV001350853;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48611883	49054207	-1	-
NC_000013.10:g.(?_48611883)_(48939117_?)del	5925	RB1	Pathogenic	-1	RCV001388373;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48611883	48939117	-1	-
NC_000013.10:g.(?_48611883)_(48878195_?)del	5925	RB1	Pathogenic	-1	RCV001975122;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48611883	48878195	-1	-
NC_000013.11:g.(?_48040910)_(48480071_?)del	5925	RB1	Pathogenic	-1	RCV001033135;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48615046	49054207	-1	-
NC_000013.10:g.(?_48615046)_(48930735_?)del	5925	RB1	Uncertain significance	-1	RCV003111008;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48615046	48930735		-
NC_000013.11:g.(?_48302747)_(48482890_?)del	5925	RB1	Pathogenic	-1	RCV001031865;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48876883	49057026	-1	-
NC_000013.11:g.(?_48303701)_(48304059_?)del	5925	RB1	Pathogenic	-1	RCV001031159;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877837	48878195	-1	-
NC_000013.11:g.(?_48303701)_(48412896_?)del	5925	RB1	Pathogenic	-1	RCV001033004;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877837	48987032	-1	-
NC_000013.11:g.(?_48303701)_(48480071_?)del	5925	RB1	Pathogenic	-1	RCV001032072;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877837	49054207	-1	-
NM_000321.3(RB1):c.-206_-189del	5925	RB1	Likely pathogenic	2138025895	RCV001523843;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877837	48877854	48877836	-
NC_000013.10:g.(?_48877837)_(48881552_?)del	5925	RB1	Pathogenic	-1	RCV003111020;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877837	48881552		-
NC_000013.11:g.48303714_48303721del	5925	RB1	Likely pathogenic	2138025968	RCV001378016;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877849	48877856		-
NM_000321.2(RB1):c.-198G>A	5925	RB1	Pathogenic	387906521	RCV000013961\|RCV000492684;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48877851	48877851	13:g.48877851G>A	ClinGen:CA026385,OMIM:614041.0018	C0027672 Hereditary cancer-predisposing syndrome;
NC_000013.10:g.(?_48877851)_(49054207_?)del	5925	RB1	Pathogenic	-1	RCV001383149;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877851	49054207	-1	-
NM_000321.2(RB1):c.-189G>T	5925	RB1	Pathogenic	387906520	RCV000013960;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877860	48877860	13:g.48877860G>T	ClinGen:CA026384,OMIM:614041.0017	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.-156C>A	5925	RB1	Uncertain significance	886050265	RCV000336808;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877893	48877893	NC_000013.10:g.48877893C>A	ClinGen:CA10639627	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.-155G>C	5925	RB1	Uncertain significance	1952049136	RCV001112469;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877894	48877894	13:g.48877894G>C	-
NM_000321.3(RB1):c.-153G>T	5925	RB1	Uncertain significance	886050266	RCV000393289;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877896	48877896	NC_000013.10:g.48877896G>T	ClinGen:CA10639628	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.-149G>T	5925	RB1	Conflicting interpretations of pathogenicity	1014776340	RCV001292913\|RCV002256730\|RCV002462902\|RCV003462853\|RCV003120538;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:15798	13	48877900	48877900	48877900	-
NM_000321.3(RB1):c.-100A>T	5925	RB1	Uncertain significance	1952049790	RCV001112470;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877949	48877949	13:g.48877949A>T	-
NM_000321.3(RB1):c.-81G>A	5925	RB1	Uncertain significance	886050267	RCV000296931;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48877968	48877968	NC_000013.10:g.48877968G>A	ClinGen:CA10634443	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.-69G>C	5925	RB1	Conflicting interpretations of pathogenicity	753117180	RCV000342520\|RCV002258873;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48877980	48877980	NC_000013.10:g.48877980G>C	ClinGen:CA10643552	C0035335 180200 Retinoblastoma;
NC_000013.11:g.(?_48303903)_(48480081_?)del	5925	RB1	Pathogenic	-1	RCV000707957;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878039	49054217		-	C0035335 180200 Retinoblastoma;
NC_000013.11:g.(?_48303903)_(48307416_?)del	5925	RB1	Pathogenic	-1	RCV000800048;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878039	48881552		-
NC_000013.10:g.(?_48878039)_(48919345_?)del	5925	RB1	Pathogenic	-1	RCV001388372;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878039	48919345	-1	-
NC_000013.11:g.(?_48303907)_(48480077_?)del	5925	RB1	Pathogenic	-1	RCV000632988;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878043	49054213		-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1A>T (p.Met1Leu)	5925	RB1	Uncertain significance	2138026940	RCV001964943;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878049	48878049	48878049	-
NM_000321.3(RB1):c.4C>A (p.Pro2Thr)	5925	RB1	Uncertain significance	1328198608	RCV001229314;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878052	48878052	13:g.48878052C>A	-
NM_000321.3(RB1):c.6G>T (p.Pro2=)	5925	RB1	Likely benign	1593411898	RCV001479635\|RCV002363437;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878054	48878054	13:g.48878054G>T	-
NM_000321.3(RB1):c.6G>A (p.Pro2=)	5925	RB1	Likely benign	1593411898	RCV001473185;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878054	48878054	48878054	-
NM_000321.3(RB1):c.13del (p.Thr5fs)	5925	RB1	Pathogenic	-1	RCV003332968\|RCV003397009;	N	MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878058	48878058		-
NM_000321.3(RB1):c.11A>G (p.Lys4Arg)	5925	RB1	Uncertain significance	1371181708	RCV001057690;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878059	48878059	13:g.48878059A>G	-
NM_000321.3(RB1):c.19dup (p.Arg7fs)	5925	RB1	Pathogenic	1131690852	RCV000492515\|RCV000795397\|RCV003222002;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48878061	48878062	NC_000013.10:g.48878067dup	ClinGen:CA609859297	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.13A>C (p.Thr5Pro)	5925	RB1	Uncertain significance	898303682	RCV000632954\|RCV003321697;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	48878061	48878061	NC_000013.10:g.48878061A>C	ClinGen:CA249842021	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.13A>G (p.Thr5Ala)	5925	RB1	Uncertain significance	898303682	RCV001067348\|RCV002393325;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878061	48878061	13:g.48878061A>G	-
NM_000321.3(RB1):c.13A>T (p.Thr5Ser)	5925	RB1	Uncertain significance	-1	RCV002942982\|RCV003170680;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878061	48878061	NC_000013.10:g.48878061A>T	-
NM_000321.3(RB1):c.14C>T (p.Thr5Ile)	5925	RB1	Uncertain significance	1265159988	RCV000809422\|RCV002390624;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878062	48878062	13:g.48878062C>T	-
NM_000321.3(RB1):c.19del (p.Arg7fs)	5925	RB1	Pathogenic	1131690852	RCV001386153;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878062	48878062	48878061	-
NM_000321.3(RB1):c.15C>A (p.Thr5=)	5925	RB1	Likely benign	1593411934	RCV001012306\|RCV001439359\|RCV003393781;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48878063	48878063	13:g.48878063C>A	-
NM_000321.3(RB1):c.16C>T (p.Pro6Ser)	5925	RB1	Conflicting interpretations of pathogenicity	886043138	RCV000382603\|RCV001085098\|RCV002401991;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878064	48878064	13:g.48878064C>T	ClinGen:CA10605156	CN169374 not specified;
NM_000321.3(RB1):c.17C>A (p.Pro6His)	5925	RB1	Uncertain significance	755482658	RCV001891978;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878065	48878065	48878065	-
NM_000321.3(RB1):c.18C>T (p.Pro6=)	5925	RB1	Likely benign	1017683562	RCV000877678\|RCV001013608;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878066	48878066	13:g.48878066C>T	-
NM_000321.3(RB1):c.19C>A (p.Arg7=)	5925	RB1	Likely benign	1952051704	RCV001211911\|RCV002418722;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878067	48878067	13:g.48878067C>A	-
NM_000321.3(RB1):c.20G>A (p.Arg7Gln)	5925	RB1	Uncertain significance	564059250	RCV001207424\|RCV002418695;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878068	48878068	13:g.48878068G>A	-
NM_000321.3(RB1):c.21A>G (p.Arg7=)	5925	RB1	Likely benign	2138027098	RCV001398023\|RCV002432099;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878069	48878069	48878069	-
NM_000321.3(RB1):c.22A>G (p.Lys8Glu)	5925	RB1	Uncertain significance	-1	RCV003017520\|RCV003340592;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878070	48878070	NC_000013.10:g.48878070A>G	-
NM_000321.3(RB1):c.26C>T (p.Thr9Met)	5925	RB1	Uncertain significance	1952051803	RCV001317389;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878074	48878074	48878074	-
NM_000321.3(RB1):c.26C>G (p.Thr9Arg)	5925	RB1	Uncertain significance	1952051803	RCV001351756;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878074	48878074	48878074	-
NM_000321.3(RB1):c.34_42del (p.9TAA[1])	5925	RB1	Likely benign	759465865	RCV000472900\|RCV001020205;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878076	48878084	NC_000013.10:g.48878082_48878090del	ClinGen:CA037461	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.32_63del (p.Ala11fs)	5925	RB1	Likely pathogenic	1593411974	RCV000989105;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878077	48878108	13:g.48878077_48878108del	-
NM_000321.3(RB1):c.34_71del (p.Thr12fs)	5925	RB1	Pathogenic	2138027150	RCV001920131;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878077	48878114	48878076	-
NM_000321.3(RB1):c.30C>T (p.Ala10=)	5925	RB1	Likely benign	530961288	RCV000474294\|RCV002323808;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878078	48878078	NC_000013.10:g.48878078C>T	ClinGen:CA16614427	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.30C>G (p.Ala10=)	5925	RB1	Likely benign	530961288	RCV000526510\|RCV001018614;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878078	48878078	13:g.48878078C>G	ClinGen:CA249842024	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.31G>T (p.Ala11Ser)	5925	RB1	Uncertain significance	587778852	RCV000114708;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878079	48878079	13:g.48878079G>T	ClinGen:CA026450	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.34_36dup (p.Thr12_Ala13insThr)	5925	RB1	Uncertain significance	-1	RCV002452071\|RCV003108013;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878079	48878080	48878079	-
NM_000321.3(RB1):c.32C>G (p.Ala11Gly)	5925	RB1	Uncertain significance	899323337	RCV000632957\|RCV002325216;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878080	48878080	NC_000013.10:g.48878080C>G	ClinGen:CA249842025	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.32C>T (p.Ala11Val)	5925	RB1	Uncertain significance	-1	RCV002326210\|RCV003099379;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878080	48878080	48878080	-
NM_000321.3(RB1):c.45_76del (p.Ala17fs)	5925	RB1	Pathogenic	1593412002	RCV000816353;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878081	48878112	13:g.48878081_48878112del	-
NM_000321.3(RB1):c.33C>T (p.Ala11=)	5925	RB1	Likely benign	1593411999	RCV001429136\|RCV002454180;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878081	48878081	13:g.48878081C>T	-
NM_000321.3(RB1):c.34A>T (p.Thr12Ser)	5925	RB1	Uncertain significance	1566174063	RCV000703761\|RCV001020458;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878082	48878082	NC_000013.10:g.48878082A>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.34A>G (p.Thr12Ala)	5925	RB1	Uncertain significance	1566174063	RCV000822727;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878082	48878082	13:g.48878082A>G	-
NM_000321.3(RB1):c.43_80dup (p.Pro28fs)	5925	RB1	Pathogenic	-1	RCV003444436;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878082	48878083		-
NM_000321.3(RB1):c.36del (p.Ala13fs)	5925	RB1	Pathogenic	1566174065	RCV000704628;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878083	48878083	NC_000013.10:g.48878084del	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.43_80del (p.Ala15fs)	5925	RB1	Pathogenic	2138027218	RCV001382439;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878083	48878120	48878082	-
NM_000321.3(RB1):c.45_79del (p.Ala16fs)	5925	RB1	Pathogenic	2138027212	RCV001939372\|RCV002275308;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48878083	48878117	48878082	-
NM_000321.3(RB1):c.37_65del (p.Ala13fs)	5925	RB1	Pathogenic	1064792974	RCV000462003;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878084	48878112	NC_000013.10:g.48878085_48878113del	ClinGen:CA16614430
NM_000321.3(RB1):c.36C>T (p.Thr12=)	5925	RB1	Likely benign	779180897	RCV001020919\|RCV001480539;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878084	48878084	13:g.48878084C>T	-
NM_000321.3(RB1):c.45_53dup (p.Ala16_Ala18dup)	5925	RB1	Uncertain significance	572454921	RCV001297511;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878084	48878085	48878084	-
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del)	5925	RB1	Benign	572454921	RCV000173106\|RCV000231673\|RCV000492473\|RCV001354146;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48878085	48878093	13:g.48878085_48878093del	ClinGen:CA026451	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.45_50dup (p.Ala17_Ala18dup)	5925	RB1	Uncertain significance	1173330253	RCV001058154\|RCV003160471;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878087	48878088	13:g.48878087_48878088insGCCGCT	-
NM_000321.3(RB1):c.45_70dup (p.Pro24fs)	5925	RB1	Pathogenic	1566174074	RCV000687725;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878088	48878089	NC_000013.10:g.48878093_48878118dup	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.43_65dup (p.Pro23fs)	5925	RB1	Pathogenic	587776790	RCV000013971;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878089	48878090	13:g.48878089_48878090insCGCTGCCGCCGCGGAACCCCCGG	ClinGen:CA256714,OMIM:614041.0027	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.42C>T (p.Ala14=)	5925	RB1	Benign/Likely benign	148980395	RCV000230089\|RCV000422313\|RCV000492403\|RCV000858032;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48878090	48878090	NC_000013.10:g.48878090C>T	ClinGen:CA038139	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.44C>G (p.Ala15Gly)	5925	RB1	Uncertain significance	564137727	RCV000693012;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878092	48878092	NC_000013.10:g.48878092C>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.54_76dup (p.Pro26fs)	5925	RB1	Pathogenic/Likely pathogenic	1555279210	RCV000492663\|RCV000697493;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878093	48878094	NC_000013.10:g.48878102_48878124dup	ClinGen:CA645369601	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.46_61GCC[2]GCGGAACCCCAGGCACCGCCGCCGCCGCCGCCGCGGAACCCC[1] (p.Pro21fs)	5925	RB1	Pathogenic	2138027345	RCV001387149;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878093	48878094	48878093	-
NM_000321.3(RB1):c.45T>C (p.Ala15=)	5925	RB1	Likely benign	-1	RCV002746503;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878093	48878093		-
NM_000321.3(RB1):c.54_73dup (p.Pro25fs)	5925	RB1	Pathogenic	1555279212	RCV000553322;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878094	48878095	NC_000013.10:g.48878102_48878121dup	ClinGen:CA658658234	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.48CGC[1] (p.Ala18del)	5925	RB1	Uncertain significance	1952052800	RCV001050997;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878094	48878096	13:g.48878094_48878096del	-
NM_000321.3(RB1):c.49G>A (p.Ala17Thr)	5925	RB1	Uncertain significance	1566174092	RCV001294674\|RCV002339719;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878097	48878097	48878097	-
NM_000321.3(RB1):c.50C>T (p.Ala17Val)	5925	RB1	Uncertain significance	1593412070	RCV001023539\|RCV001862264;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878098	48878098	13:g.48878098C>T	-
NM_000321.3(RB1):c.52G>T (p.Ala18Ser)	5925	RB1	Benign	528218090	RCV000226647\|RCV000568995;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878100	48878100	NC_000013.10:g.48878100G>T	ClinGen:CA038529	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.52G>A (p.Ala18Thr)	5925	RB1	Uncertain significance	528218090	RCV000802787;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878100	48878100	13:g.48878100G>A	-
NM_000321.3(RB1):c.56A>T (p.Glu19Val)	5925	RB1	Uncertain significance	-1	RCV002302149;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878104	48878104	48878104	-
NM_000321.3(RB1):c.62dup (p.Ala22fs)	5925	RB1	Pathogenic	1469887040	RCV001386154;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878105	48878106	48878105	-
NM_000321.3(RB1):c.59_71del (p.Pro20fs)	5925	RB1	Pathogenic	1952053203	RCV001231370;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878106	48878118	13:g.48878106_48878118del	-
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)	5925	RB1	Conflicting interpretations of pathogenicity	587778637	RCV000121915\|RCV000477348\|RCV000569325;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878107	48878107	13:g.48878107C>T	ClinGen:CA026462	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.60C>G (p.Pro20=)	5925	RB1	Likely benign	777340111	RCV000979440\|RCV003169504;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878108	48878108	13:g.48878108C>G	-
NM_000321.3(RB1):c.60C>T (p.Pro20=)	5925	RB1	Likely benign	777340111	RCV002178472\|RCV002352935;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878108	48878108	48878108	-
NM_000321.3(RB1):c.60C>A (p.Pro20=)	5925	RB1	Likely benign	777340111	RCV002088682\|RCV002352834;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878108	48878108	48878108	-
NM_000321.3(RB1):c.62C>T (p.Pro21Leu)	5925	RB1	Conflicting interpretations of pathogenicity	1444353743	RCV000698668\|RCV002360783\|RCV003460955;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48878110	48878110	NC_000013.10:g.48878110C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.62C>G (p.Pro21Arg)	5925	RB1	Uncertain significance	1444353743	RCV001364024;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878110	48878110	48878110	-
NM_000321.3(RB1):c.63G>A (p.Pro21=)	5925	RB1	Uncertain significance	1313614748	RCV001226568;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878111	48878111	13:g.48878111G>A	-
NM_000321.3(RB1):c.66_68del (p.Pro29del)	5925	RB1	Uncertain significance	1298675805	RCV001960464;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878113	48878115	48878112	-
NM_000321.3(RB1):c.66A>G (p.Ala22=)	5925	RB1	Likely benign	1014225642	RCV001473210\|RCV002367609;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878114	48878114	NC_000013.10:g.48878114A>G	ClinGen:CA16614283	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.66A>C (p.Ala22=)	5925	RB1	Likely benign	1014225642	RCV001443038;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878114	48878114	NC_000013.10:g.48878114A>C	ClinGen:CA16614436	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.69GCC[5] (p.Pro29dup)	5925	RB1	Uncertain significance	587778823	RCV000565292\|RCV000820387;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878114	48878115	NC_000013.10:g.48878117GCC[5]	ClinGen:CA6978876	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.69GCC[6] (p.Pro28_Pro29dup)	5925	RB1	Uncertain significance	587778823	RCV001026508\|RCV002551967;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878114	48878115	13:g.48878114_48878115insCCGCCG	-
NM_000321.3(RB1):c.69GCC[3] (p.Pro29del)	5925	RB1	Likely benign	587778823	RCV000474548\|RCV000564121;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878115	48878117	NC_000013.10:g.48878117GCC[3]	ClinGen:CA026465	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.67C>T (p.Pro23Ser)	5925	RB1	Uncertain significance	1349657979	RCV001036984;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878115	48878115	13:g.48878115C>T	-
NM_000321.3(RB1):c.67C>A (p.Pro23Thr)	5925	RB1	Uncertain significance	1349657979	RCV001220684;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878115	48878115	13:g.48878115C>A	-
NM_000321.3(RB1):c.68C>A (p.Pro23Gln)	5925	RB1	Uncertain significance	1952053594	RCV001048894;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878116	48878116	13:g.48878116C>A	-
NM_000321.3(RB1):c.68C>T (p.Pro23Leu)	5925	RB1	Uncertain significance	1952053594	RCV001940507\|RCV002361240;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878116	48878116	48878116	-
NM_000321.3(RB1):c.69G>A (p.Pro23=)	5925	RB1	Likely benign	746662122	RCV000564917\|RCV001399671;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878117	48878117	13:g.48878117G>A	ClinGen:CA483711616	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.69G>C (p.Pro23=)	5925	RB1	Likely benign	746662122	RCV002219242\|RCV002361474;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878117	48878117	48878117	-
NM_000321.3(RB1):c.71C>T (p.Pro24Leu)	5925	RB1	Uncertain significance	1285455572	RCV001340818;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878119	48878119	48878119	-
NM_000321.3(RB1):c.73C>T (p.Pro25Ser)	5925	RB1	Uncertain significance	1566174119	RCV001946175;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878121	48878121	48878121	-
NM_000321.3(RB1):c.73C>A (p.Pro25Thr)	5925	RB1	Uncertain significance	-1	RCV002811374;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878121	48878121	NC_000013.10:g.48878121C>A	-
NM_000321.3(RB1):c.74C>T (p.Pro25Leu)	5925	RB1	Uncertain significance	1593412158	RCV001026505\|RCV001862369;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878122	48878122	13:g.48878122C>T	-
NM_000321.3(RB1):c.78_83dup (p.Pro28_Pro29dup)	5925	RB1	Uncertain significance	1555279223	RCV000632928\|RCV002413811;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878123	48878124	NC_000013.10:g.48878126_48878131dup	ClinGen:CA658798151	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.76C>T (p.Pro26Ser)	5925	RB1	Uncertain significance	-1	RCV002400583\|RCV003099720;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878124	48878124	48878124	-
NM_000321.3(RB1):c.78G>C (p.Pro26=)	5925	RB1	Likely benign	1389899415	RCV002088688\|RCV002423347;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878126	48878126	48878126	-
NM_000321.3(RB1):c.83del (p.Pro28fs)	5925	RB1	Pathogenic	1276653645	RCV000704145;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878127	48878127	NC_000013.10:g.48878131del	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.79C>T (p.Pro27Ser)	5925	RB1	Uncertain significance	1309325353	RCV001374201\|RCV002420848;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878127	48878127	48878127	-
NM_000321.3(RB1):c.80C>G (p.Pro27Arg)	5925	RB1	Conflicting interpretations of pathogenicity	925399787	RCV001213879\|RCV002256701;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878128	48878128	13:g.48878128C>G	-
NM_000321.3(RB1):c.81C>G (p.Pro27=)	5925	RB1	Likely benign	1555279227	RCV000526509;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878129	48878129	13:g.48878129C>G	ClinGen:CA483711629	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.81C>A (p.Pro27=)	5925	RB1	Likely benign	1555279227	RCV002183498;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878129	48878129	48878129	-
NM_000321.3(RB1):c.83C>G (p.Pro28Arg)	5925	RB1	Benign/Likely benign	776175164	RCV000470650\|RCV001017708;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878131	48878131	NC_000013.10:g.48878131C>G	ClinGen:CA039558	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.83C>T (p.Pro28Leu)	5925	RB1	Conflicting interpretations of pathogenicity	776175164	RCV000688608\|RCV002440436\|RCV003117490;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48878131	48878131	NC_000013.10:g.48878131C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.86C>T (p.Pro29Leu)	5925	RB1	Uncertain significance	938094455	RCV001068419\|RCV002374984;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878134	48878134	13:g.48878134C>T	-
NM_000321.3(RB1):c.88G>C (p.Glu30Gln)	5925	RB1	Uncertain significance	1555279228	RCV000567305\|RCV001231699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878136	48878136	13:g.48878136G>C	ClinGen:CA388250295	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.89A>C (p.Glu30Ala)	5925	RB1	Conflicting interpretations of pathogenicity	1482284498	RCV000799491\|RCV001018600\|RCV003467377;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48878137	48878137	13:g.48878137A>C	-
NM_000321.3(RB1):c.92dup (p.Asp32fs)	5925	RB1	Pathogenic	1566174147	RCV000722027;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878139	48878140	NC_000013.10:g.48878140dup	-
NM_000321.3(RB1):c.94G>A (p.Asp32Asn)	5925	RB1	Uncertain significance	1593412219	RCV000791727\|RCV001090332\|RCV002370065;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878142	48878142	13:g.48878142G>A	-
NM_000321.3(RB1):c.94G>C (p.Asp32His)	5925	RB1	Uncertain significance	1593412219	RCV001347499;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878142	48878142	48878142	-
NM_000321.3(RB1):c.98dup (p.Glu34fs)	5925	RB1	Pathogenic	1952054473	RCV001048241;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878143	48878144	13:g.48878143_48878144insC	-
NM_000321.3(RB1):c.98C>T (p.Pro33Leu)	5925	RB1	Uncertain significance	1201977804	RCV000693443;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878146	48878146	NC_000013.10:g.48878146C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.98C>G (p.Pro33Arg)	5925	RB1	Uncertain significance	1201977804	RCV001305982;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878146	48878146	48878146	-
NM_000321.3(RB1):c.99A>G (p.Pro33=)	5925	RB1	Likely benign	1055176035	RCV001488457\|RCV002384798;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878147	48878147	48878147	-
NM_000321.3(RB1):c.100G>T (p.Glu34Ter)	5925	RB1	Pathogenic	2138027798	RCV001385813;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878148	48878148	48878148	-
NM_000321.3(RB1):c.100G>C (p.Glu34Gln)	5925	RB1	Uncertain significance	2138027798	RCV001924820;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878148	48878148	48878148	-
NM_000321.3(RB1):c.102G>C (p.Glu34Asp)	5925	RB1	Uncertain significance	1952054573	RCV001908069;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878150	48878150	48878150	-
NM_000321.3(RB1):c.103C>T (p.Gln35Ter)	5925	RB1	Pathogenic	587778869	RCV000114710;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878151	48878151	13:g.48878151C>T	ClinGen:CA026359	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.104A>T (p.Gln35Leu)	5925	RB1	Uncertain significance	1480581747	RCV000699680\|RCV001017125;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878152	48878152	NC_000013.10:g.48878152A>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.106G>A (p.Asp36Asn)	5925	RB1	Likely benign	745822791	RCV000526693\|RCV001017194;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878154	48878154	13:g.48878154G>A	ClinGen:CA027539	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.107A>G (p.Asp36Gly)	5925	RB1	Uncertain significance	2138027852	RCV001938476;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878155	48878155	48878155	-
NM_000321.3(RB1):c.108C>T (p.Asp36=)	5925	RB1	Likely benign	2138027862	RCV002088864;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878156	48878156	48878156	-
NM_000321.3(RB1):c.109A>C (p.Ser37Arg)	5925	RB1	Uncertain significance	896487590	RCV000632929\|RCV002448948;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878157	48878157	13:g.48878157A>C	ClinGen:CA388250346	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.109A>G (p.Ser37Gly)	5925	RB1	Conflicting interpretations of pathogenicity	896487590	RCV000632948\|RCV001017289\|RCV003420095\|RCV003235319;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|\|MedGen:C3661900	13	48878157	48878157	NC_000013.10:g.48878157A>G	ClinGen:CA249842033	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.111C>T (p.Ser37=)	5925	RB1	Likely benign	1411090163	RCV001009915\|RCV001408228;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878159	48878159	13:g.48878159C>T	-
NM_000321.3(RB1):c.111C>A (p.Ser37Arg)	5925	RB1	Uncertain significance	-1	RCV002301635;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878159	48878159	48878159	-
NM_000321.3(RB1):c.113_115delinsCT (p.Gly38fs)	5925	RB1	Pathogenic	886037649	RCV000114711;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878161	48878163	NC_000013.10:g.48878161_48878163delinsCT	ClinGen:CA10575637	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.113G>A (p.Gly38Asp)	5925	RB1	Benign/Likely benign	766529534	RCV000567067\|RCV000989106;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878161	48878161	13:g.48878161G>A	ClinGen:CA027677	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.114C>T (p.Gly38=)	5925	RB1	Likely benign	1369823342	RCV000632986\|RCV001017485;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878162	48878162	NC_000013.10:g.48878162C>T	ClinGen:CA483711648	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.115C>A (p.Pro39Thr)	5925	RB1	Uncertain significance	2138027915	RCV001925413;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878163	48878163	48878163	-
NM_000321.3(RB1):c.116C>T (p.Pro39Leu)	5925	RB1	Conflicting interpretations of pathogenicity	1180053508	RCV000632939\|RCV001010099;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878164	48878164	NC_000013.10:g.48878164C>T	ClinGen:CA388250363	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.118G>A (p.Glu40Lys)	5925	RB1	Uncertain significance	1593412262	RCV000810985\|RCV002336667;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878166	48878166	13:g.48878166G>A	-
NM_000321.3(RB1):c.118G>T (p.Glu40Ter)	5925	RB1	Pathogenic	1593412262	RCV001941800;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878166	48878166	48878166	-
NM_000321.3(RB1):c.119A>G (p.Glu40Gly)	5925	RB1	Uncertain significance	-1	RCV002797321;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878167	48878167	NC_000013.10:g.48878167A>G	-
NM_000321.3(RB1):c.121G>A (p.Asp41Asn)	5925	RB1	Uncertain significance	775161380	RCV001308227;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878169	48878169	48878169	-
NM_000321.3(RB1):c.121G>C (p.Asp41His)	5925	RB1	Uncertain significance	775161380	RCV001359263;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878169	48878169	48878169	-
NM_000321.3(RB1):c.121G>T (p.Asp41Tyr)	5925	RB1	Uncertain significance	775161380	RCV001958425\|RCV002352634;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878169	48878169	48878169	-
NM_000321.3(RB1):c.124C>G (p.Leu42Val)	5925	RB1	Uncertain significance	1312883856	RCV000989107;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878172	48878172	13:g.48878172C>G	-
NM_000321.3(RB1):c.124C>A (p.Leu42Met)	5925	RB1	Uncertain significance	1312883856	RCV001058904\|RCV002402424;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878172	48878172	13:g.48878172C>A	-
NM_000321.3(RB1):c.124C>T (p.Leu42=)	5925	RB1	Likely benign	1312883856	RCV002127640\|RCV002398239;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878172	48878172	48878172	-
NM_000321.3(RB1):c.125T>A (p.Leu42Gln)	5925	RB1	Uncertain significance	1593412272	RCV000796882;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878173	48878173	13:g.48878173T>A	-
NM_000321.3(RB1):c.125T>C (p.Leu42Pro)	5925	RB1	Uncertain significance	1593412272	RCV001296049;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878173	48878173	48878173	-
NM_000321.3(RB1):c.131_132del (p.Leu44fs)	5925	RB1	Pathogenic	-1	RCV002819746;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878176	48878177	NC_000013.10:g.48878177TC[1]	-
NM_000321.3(RB1):c.129T>A (p.Pro43=)	5925	RB1	Likely benign	1304775415	RCV001010844\|RCV001461695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878177	48878177	13:g.48878177T>A	-
NM_000321.3(RB1):c.130C>A (p.Leu44Ile)	5925	RB1	Uncertain significance	1345893304	RCV000809007\|RCV002381794;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48878178	48878178	13:g.48878178C>A	-
NM_000321.3(RB1):c.130C>G (p.Leu44Val)	5925	RB1	Uncertain significance	1345893304	RCV001362751\|RCV003469598;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48878178	48878178	48878178	-
NM_000321.3(RB1):c.130C>T (p.Leu44Phe)	5925	RB1	Uncertain significance	-1	RCV003086954;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878178	48878178	NC_000013.10:g.48878178C>T	-
NM_000321.3(RB1):c.132C>A (p.Leu44=)	5925	RB1	Likely benign	-1	RCV002876561;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878180	48878180		-
NM_000321.3(RB1):c.133G>T (p.Val45Phe)	5925	RB1	Uncertain significance	-1	RCV002663197;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878181	48878181	NC_000013.10:g.48878181G>T	-
NM_000321.3(RB1):c.135C>T (p.Val45=)	5925	RB1	Likely benign	1952055180	RCV002100995;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878183	48878183	48878183	-
NM_000321.3(RB1):c.137G>C (p.Arg46Thr)	5925	RB1	Uncertain significance	2138028088	RCV002013754;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878185	48878185	48878185	-
NM_000321.3(RB1):c.137+1G>A	5925	RB1	Pathogenic	1131690855	RCV001997090;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878186	48878186	48878186	-
NM_000321.3(RB1):c.137+4A>G	5925	RB1	Uncertain significance	2138028119	RCV001927313;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878189	48878189	48878189	-
NM_000321.3(RB1):c.137+6C>A	5925	RB1	Likely benign	1273298763	RCV000557262;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878191	48878191	NC_000013.10:g.48878191C>A	ClinGen:CA609859346	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.137+6C>T	5925	RB1	Likely benign	1273298763	RCV000696561;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878191	48878191	13:g.48878191C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.137+6C>G	5925	RB1	Uncertain significance	1273298763	RCV002005374;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878191	48878191	48878191	-
NM_000321.3(RB1):c.137+7G>A	5925	RB1	Likely benign	-1	RCV002918007;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878192	48878192	NC_000013.10:g.48878192G>A	-
NM_000321.3(RB1):c.137+11A>G	5925	RB1	Likely benign	2138028169	RCV001986031;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878196	48878196	48878196	-
NM_000321.3(RB1):c.137+12G>A	5925	RB1	Likely benign	574145040	RCV002115236;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878197	48878197	48878197	-
NM_000321.3(RB1):c.137+12G>C	5925	RB1	Likely benign	-1	RCV003064371;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878197	48878197	NC_000013.10:g.48878197G>C	-
NM_000321.3(RB1):c.137+13A>T	5925	RB1	Benign/Likely benign	762766187	RCV001112471;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878198	48878198	13:g.48878198A>T	-
NM_000321.3(RB1):c.137+14G>A	5925	RB1	Likely benign	-1	RCV003009869;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878199	48878199	NC_000013.10:g.48878199G>A	-
NM_000321.3(RB1):c.137+15C>T	5925	RB1	Likely benign	763972315	RCV002209473;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878200	48878200	48878200	-
NM_000321.3(RB1):c.137+15C>G	5925	RB1	Likely benign	-1	RCV002838712;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878200	48878200	NC_000013.10:g.48878200C>G	-
NM_000321.3(RB1):c.137+17G>A	5925	RB1	Likely benign	1293021818	RCV001993300;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878202	48878202	48878202	-
NM_000321.3(RB1):c.137+19C>T	5925	RB1	Likely benign	999325303	RCV002080181;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878204	48878204	48878204	-
NM_000321.3(RB1):c.137+20G>A	5925	RB1	Likely benign	-1	RCV003028902;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48878205	48878205	NC_000013.10:g.48878205G>A	-
NM_000321.3(RB1):c.138-20T>C	5925	RB1	Likely benign	376775524	RCV001956861;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881396	48881396	48881396	-
NM_000321.3(RB1):c.138-17T>C	5925	RB1	Likely benign	-1	RCV003095351;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881399	48881399	NC_000013.10:g.48881399T>C	-
NC_000013.11:g.(?_48307270)_(48349033_?)del	5925	RB1	Pathogenic	-1	RCV000810686;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881406	48923169		-
NC_000013.10:g.(?_48881406)_(48955589_?)dup	5925	RB1	Pathogenic	-1	RCV001383355;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881406	48955589	-1	-
NM_000321.3(RB1):c.138-9A>G	5925	RB1	Likely benign	-1	RCV003036499;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881407	48881407	NC_000013.10:g.48881407A>G	-
NM_000321.3(RB1):c.138-8T>C	5925	RB1	Likely benign	201562657	RCV000458079;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881408	48881408	NC_000013.10:g.48881408T>C	ClinGen:CA16613995	C0035335 180200 Retinoblastoma;
NC_000013.11:g.(?_48307274)_(48349029_?)del	5925	RB1	Pathogenic	-1	RCV000537923;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881410	48923165		-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.138-6T>C	5925	RB1	Likely benign	2138033764	RCV001460560;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881410	48881410	48881410	-
NM_000321.3(RB1):c.138-4G>A	5925	RB1	Likely benign	1010049143	RCV001432350\|RCV003302996;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881412	48881412	NC_000013.10:g.48881412G>A	ClinGen:CA249842399	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.139C>T (p.Leu47Phe)	5925	RB1	Uncertain significance	1952088853	RCV001036270\|RCV003346259;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881417	48881417	13:g.48881417C>T	-
NM_000321.3(RB1):c.140T>G (p.Leu47Arg)	5925	RB1	Uncertain significance	2138033812	RCV001983415;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881418	48881418	48881418	-
NM_000321.3(RB1):c.141T>G (p.Leu47=)	5925	RB1	Likely benign	-1	RCV002858082;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881419	48881419		-
NM_000321.3(RB1):c.142G>T (p.Glu48Ter)	5925	RB1	Pathogenic	-1	RCV003027945;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881420	48881420	NC_000013.10:g.48881420G>T	-
NM_000321.3(RB1):c.143A>G (p.Glu48Gly)	5925	RB1	Uncertain significance	2138033826	RCV002013838\|RCV002389027;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881421	48881421	48881421	-
NM_000321.3(RB1):c.144G>A (p.Glu48=)	5925	RB1	Likely benign	1021965284	RCV001011647\|RCV001506594;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881422	48881422	13:g.48881422G>A	-
NM_000321.3(RB1):c.148G>C (p.Glu50Gln)	5925	RB1	Conflicting interpretations of pathogenicity	1060503085	RCV000461996\|RCV002393152;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881426	48881426	NC_000013.10:g.48881426G>C	ClinGen:CA16614037	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.150A>T (p.Glu50Asp)	5925	RB1	Uncertain significance	1330924197	RCV001011950\|RCV002551753;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881428	48881428	13:g.48881428A>T	-
NM_000321.3(RB1):c.153A>C (p.Glu51Asp)	5925	RB1	Uncertain significance	756860689	RCV001011986\|RCV002549355;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881431	48881431	13:g.48881431A>C	-
NM_000321.3(RB1):c.155C>T (p.Thr52Ile)	5925	RB1	Benign/Likely benign	780588550	RCV000688857\|RCV001012161;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881433	48881433	13:g.48881433C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.155C>G (p.Thr52Arg)	5925	RB1	Uncertain significance	780588550	RCV001343400;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881433	48881433	48881433	-
NM_000321.3(RB1):c.156_164del (p.Glu53_Pro55del)	5925	RB1	Uncertain significance	-1	RCV002658248;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881433	48881441	NC_000013.10:g.48881434_48881442del	-
NM_000321.3(RB1):c.156A>C (p.Thr52=)	5925	RB1	Likely benign	1593414358	RCV001443192;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881434	48881434	13:g.48881434A>C	-
NM_000321.3(RB1):c.157GAA[1] (p.Glu54del)	5925	RB1	Uncertain significance	1952089186	RCV001204303;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881434	48881436	13:g.48881434_48881436del	-
NM_000321.3(RB1):c.158A>C (p.Glu53Ala)	5925	RB1	Uncertain significance	-1	RCV003032685;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881436	48881436	NC_000013.10:g.48881436A>C	-
NM_000321.3(RB1):c.159A>G (p.Glu53=)	5925	RB1	Likely benign	-1	RCV002582911\|RCV003308146;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881437	48881437		-
NM_000321.3(RB1):c.160G>T (p.Glu54Ter)	5925	RB1	Pathogenic	-1	RCV002287299;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881438	48881438	48881438	-
NM_000321.3(RB1):c.161A>G (p.Glu54Gly)	5925	RB1	Uncertain significance	1952089249	RCV001043064\|RCV003380809;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881439	48881439	13:g.48881439A>G	-
NM_000321.3(RB1):c.163C>T (p.Pro55Ser)	5925	RB1	Uncertain significance	769618862	RCV001307163;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881441	48881441	48881441	-
NM_000321.3(RB1):c.163C>A (p.Pro55Thr)	5925	RB1	Uncertain significance	-1	RCV002975733;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881441	48881441	NC_000013.10:g.48881441C>A	-
NM_000321.3(RB1):c.165T>A (p.Pro55=)	5925	RB1	Likely benign	775560197	RCV000951395\|RCV001012555;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881443	48881443	13:g.48881443T>A	-
NM_000321.3(RB1):c.172A>G (p.Thr58Ala)	5925	RB1	Uncertain significance	1593414365	RCV001012876\|RCV001064651;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881450	48881450	13:g.48881450A>G	-
NM_000321.3(RB1):c.173C>T (p.Thr58Ile)	5925	RB1	Benign	138574644	RCV000121923\|RCV000632963\|RCV003162556;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881451	48881451	13:g.48881451C>T	ClinGen:CA026400	CN169374 not specified;
NM_000321.3(RB1):c.174dup (p.Ala59fs)	5925	RB1	Pathogenic	2138034025	RCV001543670;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881451	48881452	48881451	-
NM_000321.3(RB1):c.175G>C (p.Ala59Pro)	5925	RB1	Uncertain significance	184754468	RCV001203295\|RCV003462681;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48881453	48881453	13:g.48881453G>C	-
NM_000321.3(RB1):c.175G>A (p.Ala59Thr)	5925	RB1	Uncertain significance	-1	RCV003055232;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881453	48881453	NC_000013.10:g.48881453G>A	-
NM_000321.3(RB1):c.177A>T (p.Ala59=)	5925	RB1	Likely benign	189574280	RCV000959825\|RCV002400115;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881455	48881455	13:g.48881455A>T	-
NM_000321.3(RB1):c.177A>G (p.Ala59=)	5925	RB1	Likely benign	-1	RCV002404042\|RCV003097240;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881455	48881455		-
NM_000321.3(RB1):c.180A>G (p.Leu60=)	5925	RB1	Likely benign	878853948	RCV000233430\|RCV001013197;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881458	48881458	NC_000013.10:g.48881458A>G	ClinGen:CA10583156	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.180A>C (p.Leu60Phe)	5925	RB1	Uncertain significance	878853948	RCV001996619;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881458	48881458	48881458	-
NM_000321.3(RB1):c.182G>A (p.Cys61Tyr)	5925	RB1	Uncertain significance	1593414390	RCV000800503;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881460	48881460	13:g.48881460G>A	-
NM_000321.3(RB1):c.184C>T (p.Gln62Ter)	5925	RB1	Pathogenic	2138034088	RCV001938303;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881462	48881462	48881462	-
NM_000321.3(RB1):c.184C>A (p.Gln62Lys)	5925	RB1	Uncertain significance	-1	RCV003085799;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881462	48881462	NC_000013.10:g.48881462C>A	-
NM_000321.3(RB1):c.190T>C (p.Leu64=)	5925	RB1	Likely benign	-1	RCV002410523\|RCV003097344;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881468	48881468		-
NM_000321.3(RB1):c.191T>G (p.Leu64Ter)	5925	RB1	Pathogenic	2138034131	RCV001389644;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881469	48881469	48881469	-
NM_000321.3(RB1):c.196A>G (p.Ile66Val)	5925	RB1	Uncertain significance	1952089702	RCV001327638;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881474	48881474	48881474	-
NM_000321.3(RB1):c.199C>T (p.Pro67Ser)	5925	RB1	Uncertain significance	1952089775	RCV001352329\|RCV002420767;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881477	48881477	48881477	-
NM_000321.3(RB1):c.201A>C (p.Pro67=)	5925	RB1	Likely benign	1268550381	RCV001431849\|RCV002420973;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881479	48881479	48881479	-
NM_000321.3(RB1):c.201A>T (p.Pro67=)	5925	RB1	Likely benign	1268550381	RCV002201712;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881479	48881479	48881479	-
NM_000321.3(RB1):c.202G>A (p.Asp68Asn)	5925	RB1	Uncertain significance	-1	RCV002300415;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881480	48881480	48881480	-
NM_000321.3(RB1):c.203A>G (p.Asp68Gly)	5925	RB1	Uncertain significance	1952089852	RCV001212771;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881481	48881481	13:g.48881481A>G	-
NM_000321.3(RB1):c.206A>G (p.His69Arg)	5925	RB1	Uncertain significance	776591592	RCV001349229;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881484	48881484	48881484	-
NM_000321.3(RB1):c.207T>C (p.His69=)	5925	RB1	Likely benign	759594127	RCV000570326\|RCV000866936\|RCV001726251;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48881485	48881485	NC_000013.10:g.48881485T>C	ClinGen:CA033937	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.208G>A (p.Val70Ile)	5925	RB1	Uncertain significance	2138034226	RCV002011975;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881486	48881486	48881486	-
NM_000321.3(RB1):c.219_220del (p.Arg73fs)	5925	RB1	Pathogenic	587778862	RCV000114738\|RCV000492118;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881489	48881490	13:g.48881489_48881490del	ClinGen:CA026426	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.213A>T (p.Arg71Ser)	5925	RB1	Uncertain significance	1326990660	RCV001205611\|RCV002255627;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881491	48881491	13:g.48881491A>T	-
NM_000321.3(RB1):c.215A>G (p.Glu72Gly)	5925	RB1	Conflicting interpretations of pathogenicity	753307498	RCV002013928\|RCV002425412;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881493	48881493	48881493	-
NM_000321.3(RB1):c.217del (p.Arg73fs)	5925	RB1	Pathogenic	587778840	RCV000114737;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881495	48881495	13:g.48881495_48881495del	ClinGen:CA026425	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.217A>G (p.Arg73Gly)	5925	RB1	Uncertain significance	-1	RCV002432866\|RCV003098691;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881495	48881495	48881495	-
NM_000321.3(RB1):c.220G>A (p.Ala74Thr)	5925	RB1	Uncertain significance	1952090208	RCV001318907\|RCV002431912;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881498	48881498	48881498	-
NM_000321.3(RB1):c.220del (p.Ala74fs)	5925	RB1	Pathogenic	-1	RCV002847580;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881498	48881498	NC_000013.10:g.48881498del	-
NM_000321.3(RB1):c.221C>G (p.Ala74Gly)	5925	RB1	Uncertain significance	764472420	RCV000550936;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881499	48881499	13:g.48881499C>G	ClinGen:CA034844	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.224G>T (p.Trp75Leu)	5925	RB1	Uncertain significance	-1	RCV002800686\|RCV003308285;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881502	48881502	NC_000013.10:g.48881502G>T	-
NM_000321.3(RB1):c.227_228dup (p.Thr77Ter)	5925	RB1	Pathogenic	587778824	RCV000114739;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881504	48881505	13:g.48881504_48881505insTA	ClinGen:CA269733	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.229_232del (p.Thr77fs)	5925	RB1	Pathogenic	2138034389	RCV001872293;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881507	48881510	48881506	-
NM_000321.3(RB1):c.231T>C (p.Thr77=)	5925	RB1	Likely benign	1277146164	RCV001500957\|RCV002456906;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881509	48881509	48881509	-
NM_000321.3(RB1):c.234G>A (p.Trp78Ter)	5925	RB1	Pathogenic	2138034427	RCV001950933\|RCV003332367;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48881512	48881512	48881512	-
NM_000321.3(RB1):c.235G>C (p.Glu79Gln)	5925	RB1	Uncertain significance	1060503090	RCV000472444\|RCV002446828\|RCV003463954;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48881513	48881513	NC_000013.10:g.48881513G>C	ClinGen:CA16613996	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.238A>G (p.Lys80Glu)	5925	RB1	Uncertain significance	751870680	RCV000456691\|RCV001015371;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48881516	48881516	NC_000013.10:g.48881516A>G	ClinGen:CA035434	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.240del (p.Val81fs)	5925	RB1	Pathogenic	-1	RCV002848186;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881516	48881516	NC_000013.10:g.48881518del	-
NM_000321.3(RB1):c.245C>A (p.Ser82Ter)	5925	RB1	Pathogenic	755704180	RCV001039105;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881523	48881523	13:g.48881523C>A	-
NM_000321.3(RB1):c.245C>T (p.Ser82Leu)	5925	RB1	Uncertain significance	-1	RCV002430728\|RCV003101843;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881523	48881523	48881523	-
NM_000321.3(RB1):c.246A>G (p.Ser82=)	5925	RB1	Likely benign	2138034514	RCV001469896;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881524	48881524	48881524	-
NM_000321.3(RB1):c.248C>T (p.Ser83Phe)	5925	RB1	Uncertain significance	1593414429	RCV000799593;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881526	48881526	13:g.48881526C>T	-
NM_000321.3(RB1):c.254A>G (p.Asp85Gly)	5925	RB1	Uncertain significance	1952090656	RCV001061391;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881532	48881532	13:g.48881532A>G	-
NM_000321.3(RB1):c.258A>C (p.Gly86=)	5925	RB1	Likely benign	-1	RCV003068079;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881536	48881536		-
NM_000321.3(RB1):c.259G>A (p.Val87Ile)	5925	RB1	Uncertain significance	-1	RCV002886337;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881537	48881537	NC_000013.10:g.48881537G>A	-
NM_000321.3(RB1):c.263T>G (p.Leu88Trp)	5925	RB1	Uncertain significance	1555279518	RCV000632930\|RCV003459511;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48881541	48881541	NC_000013.10:g.48881541T>G	ClinGen:CA388250698	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.264G>C (p.Leu88Phe)	5925	RB1	Uncertain significance	1952090786	RCV001228573;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881542	48881542	13:g.48881542G>C	-
NM_000321.3(RB1):c.264+1G>A	5925	RB1	Pathogenic	1131690907	RCV000492283\|RCV001856950;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881543	48881543	NC_000013.10:g.48881543G>A	ClinGen:CA388250701	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.264+1G>T	5925	RB1	Pathogenic	1131690907	RCV001386155;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881543	48881543	48881543	-
NM_000321.3(RB1):c.264+5G>A	5925	RB1	Likely pathogenic	1131690853	RCV001301388;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881547	48881547	48881547	-
NM_000321.3(RB1):c.264+18dup	5925	RB1	Benign	750176218	RCV002124804;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881556	48881557	48881556	-
NM_000321.3(RB1):c.264+19C>T	5925	RB1	Likely benign	768676562	RCV002077975;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881561	48881561	48881561	-
NM_000321.3(RB1):c.264+20G>A	5925	RB1	Likely benign	200985890	RCV000606301\|RCV002064143;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48881562	48881562	13:g.48881562G>A	ClinGen:CA036469	CN169374 not specified;
NM_000321.3(RB1):c.265-15A>G	5925	RB1	Likely benign	-1	RCV002996489;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916720	48916720	NC_000013.10:g.48916720A>G	-
NM_000321.3(RB1):c.265-14T>A	5925	RB1	Likely benign	-1	RCV003050912;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916721	48916721	NC_000013.10:g.48916721T>A	-
NM_000321.3(RB1):c.265-13T>A	5925	RB1	Likely benign	1331450918	RCV002124468;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916722	48916722	48916722	-
NC_000013.11:g.(?_48342589)_(48345209_?)del	5925	RB1	Pathogenic	-1	RCV001031283;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916725	48919345	-1	-
NC_000013.11:g.(?_48342589)_(48368614_?)del	5925	RB1	Pathogenic	-1	RCV001032304;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916725	48942750	-1	-
NC_000013.10:g.(?_48916725)_(48922009_?)del	5925	RB1	Pathogenic	-1	RCV003111015;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916725	48922009		-
NM_000321.3(RB1):c.265-8del	5925	RB1	Uncertain significance	1952455310	RCV001052607;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916727	48916727	13:g.48916727_48916727del	-
NC_000013.10:g.(?_48916729)_(48942746_?)dup	5925	RB1	Pathogenic	-1	RCV000548284;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916729	48942746		-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.265-6_265-4del	5925	RB1	Benign	780733860	RCV000529349\|RCV002456069;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916729	48916731	NC_000013.10:g.48916729_48916731del	ClinGen:CA036692	C0035335 180200 Retinoblastoma;
NC_000013.11:g.(?_48342599)_(48345199_?)del	5925	RB1	Pathogenic	-1	RCV000462833;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916735	48919335		-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.265G>A (p.Gly89Arg)	5925	RB1	Uncertain significance	1952455387	RCV001299909;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916735	48916735	48916735	-
NM_000321.3(RB1):c.266G>A (p.Gly89Glu)	5925	RB1	Uncertain significance	371655281	RCV001016265\|RCV001873275;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916736	48916736	13:g.48916736G>A	-
NM_000321.3(RB1):c.269G>T (p.Gly90Val)	5925	RB1	Conflicting interpretations of pathogenicity	554727080	RCV000559096\|RCV000763897\|RCV002438313\|RCV003470733;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0149925,OMIM:182280, Orphanet:70573; MONDO:MONDO:0002629,MedGen:C058	13	48916739	48916739	13:g.48916739G>T	ClinGen:CA037060	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.272_276del (p.Tyr91fs)	5925	RB1	Pathogenic	1593434175	RCV000816071;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916740	48916744	13:g.48916740_48916744del	-
NM_000321.3(RB1):c.270T>C (p.Gly90=)	5925	RB1	Likely benign	1593434172	RCV001016249\|RCV001478528;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916740	48916740	13:g.48916740T>C	-
NM_000321.3(RB1):c.272A>G (p.Tyr91Cys)	5925	RB1	Benign/Likely benign	750850735	RCV000867444\|RCV002427143;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916742	48916742	13:g.48916742A>G	-
NM_000321.3(RB1):c.273T>C (p.Tyr91=)	5925	RB1	Conflicting interpretations of pathogenicity	750136284	RCV000549050\|RCV001016457\|RCV002281103;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48916743	48916743	13:g.48916743T>C	ClinGen:CA037393	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.276T>G (p.Ile92Met)	5925	RB1	Uncertain significance	1555282772	RCV000537741\|RCV000763898;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500, Orphanet:668; MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980; Human Phenotype On	13	48916746	48916746	13:g.48916746T>G	ClinGen:CA388252332	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.279A>G (p.Gln93=)	5925	RB1	Likely benign	2138083552	RCV001457481;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916749	48916749	48916749	-
NM_000321.3(RB1):c.287dup (p.Glu97fs)	5925	RB1	Pathogenic	-1	RCV002877174;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916752	48916753	NC_000013.10:g.48916757dup	-
NM_000321.3(RB1):c.283A>T (p.Lys95Ter)	5925	RB1	Pathogenic	1555282775	RCV000632934;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916753	48916753	NC_000013.10:g.48916753A>T	ClinGen:CA388252351	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.283A>C (p.Lys95Gln)	5925	RB1	Uncertain significance	-1	RCV002435218\|RCV003102777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916753	48916753	48916753	-
NM_000321.3(RB1):c.285A>G (p.Lys95=)	5925	RB1	Likely benign	755688480	RCV000548106\|RCV002438315;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916755	48916755	13:g.48916755A>G	ClinGen:CA037478	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.291A>G (p.Glu97=)	5925	RB1	Likely benign	919345517	RCV000937821\|RCV002434265;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916761	48916761	13:g.48916761A>G	-
NM_000321.3(RB1):c.295_296dup (p.Trp99fs)	5925	RB1	Pathogenic	1952455844	RCV001204113;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916762	48916763	13:g.48916762_48916763insTG	-
NM_000321.3(RB1):c.293T>C (p.Leu98Pro)	5925	RB1	Uncertain significance	2138083652	RCV002020115;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916763	48916763	48916763	-
NM_000321.3(RB1):c.294G>A (p.Leu98=)	5925	RB1	Likely benign	2138083659	RCV001485908\|RCV002439166;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916764	48916764	48916764	-
NM_000321.3(RB1):c.297G>A (p.Trp99Ter)	5925	RB1	Pathogenic	794727481	RCV000177038\|RCV000492718\|RCV001386156;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916767	48916767	13:g.48916767G>A	ClinGen:CA026447	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.297_298insA (p.Gly100fs)	5925	RB1	Pathogenic	1566186087	RCV000703743;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916767	48916768	NC_000013.10:g.48916767_48916768insA	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.299G>C (p.Gly100Ala)	5925	RB1	Uncertain significance	886050268	RCV000302815\|RCV002436160;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916769	48916769	NC_000013.10:g.48916769G>C	ClinGen:CA10639629	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.299G>T (p.Gly100Val)	5925	RB1	Uncertain significance	886050268	RCV001236136;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916769	48916769	13:g.48916769G>T	-
NM_000321.3(RB1):c.301A>G (p.Ile101Val)	5925	RB1	Uncertain significance	1555282783	RCV000632951\|RCV001018070;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916771	48916771	13:g.48916771A>G	ClinGen:CA388252391	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.305_306del (p.Cys102fs)	5925	RB1	Pathogenic	587778825	RCV000114701;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916774	48916775	13:g.48916774_48916775del	ClinGen:CA026448	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.309_312del (p.Phe104fs)	5925	RB1	Pathogenic	1952456105	RCV001240257;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916778	48916781	13:g.48916778_48916781del	-
NM_000321.3(RB1):c.316G>T (p.Ala106Ser)	5925	RB1	Uncertain significance	1210328667	RCV001018947\|RCV001237092;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916786	48916786	13:g.48916786G>T	-
NM_000321.3(RB1):c.321A>C (p.Ala107=)	5925	RB1	Likely benign	2138083810	RCV001462149\|RCV002449238;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916791	48916791	48916791	-
NM_000321.3(RB1):c.323T>C (p.Val108Ala)	5925	RB1	Uncertain significance	376408183	RCV001303187;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916793	48916793	48916793	-
NM_000321.3(RB1):c.328C>G (p.Leu110Val)	5925	RB1	Uncertain significance	-1	RCV003074473;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916798	48916798	NC_000013.10:g.48916798C>G	-
NM_000321.3(RB1):c.331G>A (p.Asp111Asn)	5925	RB1	Uncertain significance	1952456285	RCV001112472;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916801	48916801	13:g.48916801G>A	-
NM_000321.3(RB1):c.334G>A (p.Glu112Lys)	5925	RB1	Uncertain significance	1199831823	RCV001063389;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916804	48916804	13:g.48916804G>A	-
NM_000321.3(RB1):c.336G>A (p.Glu112=)	5925	RB1	Likely benign	-1	RCV002701485;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916806	48916806		-
NM_000321.3(RB1):c.337A>C (p.Met113Leu)	5925	RB1	Uncertain significance	1593434246	RCV001020137\|RCV001350780;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916807	48916807	13:g.48916807A>C	-
NM_000321.3(RB1):c.339G>A (p.Met113Ile)	5925	RB1	Uncertain significance	1593434250	RCV000822166\|RCV001020197;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916809	48916809	13:g.48916809G>A	-
NM_000321.3(RB1):c.341C>T (p.Ser114Leu)	5925	RB1	Benign/Likely benign	139673557	RCV000632935\|RCV001020260;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916811	48916811	13:g.48916811C>T	ClinGen:CA249846142	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.342G>A (p.Ser114=)	5925	RB1	Benign/Likely benign	748093967	RCV000228736\|RCV001020288;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916812	48916812	NC_000013.10:g.48916812G>A	ClinGen:CA037639	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.343T>C (p.Phe115Leu)	5925	RB1	Uncertain significance	1555282792	RCV000541400;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916813	48916813	NC_000013.10:g.48916813T>C	ClinGen:CA388252489	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.349T>C (p.Phe117Leu)	5925	RB1	Uncertain significance	-1	RCV002626112;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916819	48916819	NC_000013.10:g.48916819T>C	-
NM_000321.3(RB1):c.352A>T (p.Thr118Ser)	5925	RB1	Uncertain significance	1429553692	RCV001059400\|RCV002451247\|RCV002482041;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500, Orphanet:668; Human Phenotype O	13	48916822	48916822	13:g.48916822A>T	-
NM_000321.3(RB1):c.352A>G (p.Thr118Ala)	5925	RB1	Uncertain significance	-1	RCV003022884;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916822	48916822	NC_000013.10:g.48916822A>G	-
NM_000321.3(RB1):c.354T>A (p.Thr118=)	5925	RB1	Conflicting interpretations of pathogenicity	951251256	RCV001020579\|RCV001069942;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916824	48916824	13:g.48916824T>A	-
NM_000321.3(RB1):c.356A>C (p.Glu119Ala)	5925	RB1	Uncertain significance	1347755761	RCV000551740\|RCV002456070;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916826	48916826	13:g.48916826A>C	ClinGen:CA388252518	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.357G>A (p.Glu119=)	5925	RB1	Likely benign	1593434283	RCV001504567;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916827	48916827	13:g.48916827G>A	-
NM_000321.3(RB1):c.357G>T (p.Glu119Asp)	5925	RB1	Uncertain significance	1593434283	RCV001366741\|RCV003339619;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916827	48916827	48916827	-
NM_000321.3(RB1):c.360A>G (p.Leu120=)	5925	RB1	Likely benign	-1	RCV002867170;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916830	48916830		-
NM_000321.3(RB1):c.363G>A (p.Gln121=)	5925	RB1	Likely benign	777410222	RCV001438047\|RCV002258257;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916833	48916833	48916833	-
NM_000321.3(RB1):c.364A>G (p.Lys122Glu)	5925	RB1	Uncertain significance	1301539544	RCV001339799;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916834	48916834	48916834	-
NM_000321.3(RB1):c.367A>G (p.Asn123Asp)	5925	RB1	Conflicting interpretations of pathogenicity	149800437	RCV000525619\|RCV000568188\|RCV001262454;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0	13	48916837	48916837	13:g.48916837A>G	ClinGen:CA037735	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.368A>G (p.Asn123Ser)	5925	RB1	Uncertain significance	2138084066	RCV001990586;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916838	48916838	48916838	-
NM_000321.3(RB1):c.370A>G (p.Ile124Val)	5925	RB1	Uncertain significance	769858139	RCV000697537\|RCV001020939;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916840	48916840	13:g.48916840A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.371_372del (p.Ile124fs)	5925	RB1	Pathogenic	1566186125	RCV000722028\|RCV001020949\|RCV003226972;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48916840	48916841	NC_000013.10:g.48916841_48916842del	-
NM_000321.3(RB1):c.371T>C (p.Ile124Thr)	5925	RB1	Uncertain significance	-1	RCV003066956\|RCV003358072;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916841	48916841	NC_000013.10:g.48916841T>C	-
NM_000321.3(RB1):c.372A>G (p.Ile124Met)	5925	RB1	Uncertain significance	1593434342	RCV001020984\|RCV001301503;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916842	48916842	13:g.48916842A>G	-
NM_000321.3(RB1):c.373G>T (p.Glu125Ter)	5925	RB1	Pathogenic/Likely pathogenic	1952457111	RCV001809313\|RCV002343870;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916843	48916843	48916843	-
NM_000321.3(RB1):c.376del (p.Ile126fs)	5925	RB1	Pathogenic	886042357	RCV000312051\|RCV000725057;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	48916844	48916844	13:g.48916844_48916844del	ClinGen:CA10604120	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.375A>G (p.Glu125=)	5925	RB1	Likely benign	-1	RCV002363834\|RCV003094348;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916845	48916845		-
NM_000321.3(RB1):c.377del (p.Ile126fs)	5925	RB1	Pathogenic	2138084130	RCV001390007\|RCV002368232;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916847	48916847	48916846	-
NM_000321.3(RB1):c.379A>G (p.Ser127Gly)	5925	RB1	Uncertain significance	775559506	RCV001894386;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916849	48916849	48916849	-
NM_000321.3(RB1):c.380G>C (p.Ser127Thr)	5925	RB1	Likely pathogenic	1131690843	RCV000492301\|RCV000814584;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916850	48916850	NC_000013.10:g.48916850G>C	ClinGen:CA388252576	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.380G>T (p.Ser127Ile)	5925	RB1	Likely pathogenic	1131690843	RCV001231903;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916850	48916850	13:g.48916850G>T	-
NM_000321.3(RB1):c.380+1G>A	5925	RB1	Pathogenic	1131690902	RCV000492145\|RCV001290126;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916851	48916851	13:g.48916851G>A	ClinGen:CA388252578	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.380+3A>T	5925	RB1	Pathogenic	1555282811	RCV000632932;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916853	48916853	NC_000013.10:g.48916853A>T	ClinGen:CA658798139	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.380+4A>C	5925	RB1	Uncertain significance	-1	RCV002830090;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916854	48916854	NC_000013.10:g.48916854A>C	-
NM_000321.3(RB1):c.380+5A>T	5925	RB1	Uncertain significance	2138084167	RCV001359264;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916855	48916855	48916855	-
NM_000321.3(RB1):c.380+6G>A	5925	RB1	Uncertain significance	-1	RCV002890127;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916856	48916856	NC_000013.10:g.48916856G>A	-
NM_000321.3(RB1):c.380+10C>G	5925	RB1	Benign/Likely benign	187110786	RCV000078640\|RCV000231569\|RCV001727560\|RCV002257403;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48916860	48916860	13:g.48916860C>G	ClinGen:CA026452	CN169374 not specified;
NM_000321.3(RB1):c.380+11T>C	5925	RB1	Likely benign	774892592	RCV002094540;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916861	48916861	48916861	-
NM_000321.3(RB1):c.380+12T>C	5925	RB1	Benign/Likely benign	3092881	RCV000078641\|RCV000402398\|RCV000588906;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48916862	48916862	13:g.48916862T>C	ClinGen:CA026453	CN517202 not provided;
NM_000321.3(RB1):c.380+12T>G	5925	RB1	Likely benign	3092881	RCV002084119;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916862	48916862	48916862	-
NM_000321.3(RB1):c.380+13G>C	5925	RB1	Likely benign	1266867448	RCV002209359;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916863	48916863	48916863	-
NM_000321.3(RB1):c.380+14T>C	5925	RB1	Likely benign	-1	RCV002680877;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916864	48916864	NC_000013.10:g.48916864T>C	-
NM_000321.3(RB1):c.380+15A>G	5925	RB1	Likely benign	1293468919	RCV002153172;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916865	48916865	48916865	-
NM_000321.3(RB1):c.380+16T>C	5925	RB1	Likely benign	1420345590	RCV002142130;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916866	48916866	48916866	-
NM_000321.3(RB1):c.380+17A>G	5925	RB1	Likely benign	2138084210	RCV002218220;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916867	48916867	48916867	-
NM_000321.3(RB1):c.380+20T>C	5925	RB1	Likely benign	767961998	RCV002105871;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916870	48916870	48916870	-
NM_000321.3(RB1):c.380+45C>T	5925	RB1	Benign	520342	RCV000244097\|RCV001675688\|RCV003316345;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48916895	48916895	NC_000013.10:g.48916895C>T	ClinGen:CA037900	CN169374 not specified;
NC_000013.10:g.(?_48919196)_(48955599_?)del	5925	RB1	Pathogenic	-1	RCV003111016;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919196	48955599		-
NM_000321.3(RB1):c.381-16A>C	5925	RB1	Likely benign	-1	RCV003057907;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919200	48919200	NC_000013.10:g.48919200A>C	-
NM_000321.3(RB1):c.381-11T>C	5925	RB1	Likely benign	756363252	RCV002175056;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919205	48919205	48919205	-
NC_000013.11:g.(?_48345070)_(48345209_?)del	5925	RB1	Pathogenic	-1	RCV000813968;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919206	48919345		-
NC_000013.10:g.(?_48919206)_(48923169_?)del	5925	RB1	Pathogenic	-1	RCV003111017;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919206	48923169		-
NC_000013.11:g.(?_48345074)_(48345205_?)del	5925	RB1	Pathogenic	-1	RCV000708179;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919210	48919341		-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.381-2A>G	5925	RB1	Pathogenic	1952480014	RCV001243830;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919214	48919214	13:g.48919214A>G	-
NM_000321.3(RB1):c.381-1G>A	5925	RB1	Conflicting interpretations of pathogenicity	1566186836	RCV000722024\|RCV001759441;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	48919215	48919215	NC_000013.10:g.48919215G>A	-
NM_000321.3(RB1):c.381T>C (p.Ser127=)	5925	RB1	Uncertain significance	780321508	RCV002018267;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919216	48919216	48919216	-
NM_000321.3(RB1):c.382G>C (p.Val128Leu)	5925	RB1	Uncertain significance	1952480074	RCV001905497;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919217	48919217	48919217	-
NM_000321.3(RB1):c.383T>C (p.Val128Ala)	5925	RB1	Uncertain significance	1566186839	RCV000700453;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919218	48919218	13:g.48919218T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.385C>T (p.His129Tyr)	5925	RB1	Uncertain significance	1952480132	RCV001055489;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919220	48919220	13:g.48919220C>T	-
NM_000321.3(RB1):c.387T>G (p.His129Gln)	5925	RB1	Uncertain significance	1593435676	RCV000815320\|RCV002363126;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919222	48919222	13:g.48919222T>G	-
NM_000321.3(RB1):c.388A>T (p.Lys130Ter)	5925	RB1	Pathogenic	1566186840	RCV000690735;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919223	48919223	NC_000013.10:g.48919223A>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.390del (p.Lys130fs)	5925	RB1	Pathogenic	2138087163	RCV001386157;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919223	48919223	48919222	-
NM_000321.3(RB1):c.389A>C (p.Lys130Thr)	5925	RB1	Uncertain significance	1593435682	RCV000800264\|RCV002360947;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919224	48919224	13:g.48919224A>C	-
NM_000321.3(RB1):c.392T>C (p.Phe131Ser)	5925	RB1	Uncertain significance	1593435687	RCV000801034\|RCV003307459;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919227	48919227	13:g.48919227T>C	-
NM_000321.3(RB1):c.393C>G (p.Phe131Leu)	5925	RB1	Uncertain significance	749495284	RCV000309105;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919228	48919228	NC_000013.10:g.48919228C>G	ClinGen:CA038069	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.393C>A (p.Phe131Leu)	5925	RB1	Uncertain significance	749495284	RCV001299885\|RCV002375357;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919228	48919228	48919228	-
NM_000321.3(RB1):c.394T>C (p.Phe132Leu)	5925	RB1	Uncertain significance	-1	RCV002923490;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919229	48919229	NC_000013.10:g.48919229T>C	-
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr)	5925	RB1	Uncertain significance	762380973	RCV001021530\|RCV001035290;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919230	48919230	13:g.48919230T>A	-
NM_000321.3(RB1):c.396T>C (p.Phe132=)	5925	RB1	Likely benign	768768956	RCV001421082\|RCV002377666;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919231	48919231	48919231	-
NM_000321.3(RB1):c.397A>C (p.Asn133His)	5925	RB1	Conflicting interpretations of pathogenicity	3092900	RCV000981682\|RCV002354884;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919232	48919232	13:g.48919232A>C	-
NM_000321.3(RB1):c.397A>T (p.Asn133Tyr)	5925	RB1	Uncertain significance	3092900	RCV001973635;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919232	48919232	48919232	-
NM_000321.3(RB1):c.399C>T (p.Asn133=)	5925	RB1	Likely benign	765277265	RCV000468583\|RCV002374868;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919234	48919234	NC_000013.10:g.48919234C>T	ClinGen:CA16613997	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.399del (p.Leu134fs)	5925	RB1	Pathogenic	2138087235	RCV001383396;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919234	48919234	48919233	-
NM_000321.3(RB1):c.399C>G (p.Asn133Lys)	5925	RB1	Uncertain significance	765277265	RCV001887030;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919234	48919234	48919234	-
NM_000321.3(RB1):c.400T>C (p.Leu134=)	5925	RB1	Likely benign	2138087245	RCV002155891;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919235	48919235	48919235	-
NM_000321.3(RB1):c.402A>G (p.Leu134=)	5925	RB1	Likely benign	1566186851	RCV001430486\|RCV002358965;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919237	48919237	48919237	-
NM_000321.3(RB1):c.409G>T (p.Glu137Ter)	5925	RB1	Pathogenic	121913296	RCV000114702\|RCV000427414;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741,MONDO:MONDO:0005070,MeSH:D009369,Me	13	48919244	48919244	13:g.48919244G>T	ClinGen:CA026454	C0027651 Neoplasm;
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)	5925	RB1	Benign/Likely benign	3092902	RCV000034596\|RCV000570544\|RCV000989108;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919246	48919246	13:g.48919246A>T	ClinGen:CA026455,UniProtKB:P06400#VAR_005573	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.417T>C (p.Asp139=)	5925	RB1	Likely benign	1555283135	RCV000554221;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919252	48919252	13:g.48919252T>C	ClinGen:CA483726222	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.417del (p.Asp139fs)	5925	RB1	Pathogenic	2138087348	RCV001939588;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919252	48919252	48919251	-
NM_000321.3(RB1):c.419C>A (p.Thr140Asn)	5925	RB1	Uncertain significance	2138087361	RCV001907867;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919254	48919254	48919254	-
NM_000321.3(RB1):c.422G>A (p.Ser141Asn)	5925	RB1	Uncertain significance	2138087383	RCV001984244;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919257	48919257	48919257	-
NM_000321.3(RB1):c.424A>G (p.Thr142Ala)	5925	RB1	Uncertain significance	1307149332	RCV001360460\|RCV002329356;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919259	48919259	48919259	-
NM_000321.3(RB1):c.428_437del (p.Lys143fs)	5925	RB1	Pathogenic	-1	RCV003048280;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919262	48919271	NC_000013.10:g.48919263_48919272del	-
NM_000321.3(RB1):c.428A>C (p.Lys143Thr)	5925	RB1	Uncertain significance	1952480749	RCV001041977;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919263	48919263	13:g.48919263A>C	-
NM_000321.3(RB1):c.431T>C (p.Val144Ala)	5925	RB1	Uncertain significance	2138087434	RCV001889488;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919266	48919266	48919266	-
NM_000321.3(RB1):c.432T>C (p.Val144=)	5925	RB1	Likely benign	1593435736	RCV001399365;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919267	48919267	13:g.48919267T>C	-
NM_000321.3(RB1):c.436A>C (p.Asn146His)	5925	RB1	Uncertain significance	1266294051	RCV002027161\|RCV002331637;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919271	48919271	48919271	-
NM_000321.3(RB1):c.438_441del (p.Asn146fs)	5925	RB1	Pathogenic	587778841	RCV000114703;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919273	48919276	13:g.48919273_48919276del	ClinGen:CA026456	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.438T>C (p.Asn146=)	5925	RB1	Likely benign	-1	RCV002914732;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919273	48919273		-
NM_000321.3(RB1):c.442A>G (p.Met148Val)	5925	RB1	Uncertain significance	-1	RCV002603226;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919277	48919277	NC_000013.10:g.48919277A>G	-
NM_000321.3(RB1):c.444G>A (p.Met148Ile)	5925	RB1	Uncertain significance	-1	RCV002802080;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919279	48919279	NC_000013.10:g.48919279G>A	-
NM_000321.3(RB1):c.446C>G (p.Ser149Ter)	5925	RB1	Pathogenic	587778870	RCV000114704\|RCV002326809;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919281	48919281	13:g.48919281C>G	ClinGen:CA026458	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.446C>T (p.Ser149Leu)	5925	RB1	Likely benign	587778870	RCV001056115\|RCV002327320;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919281	48919281	13:g.48919281C>T	-
NM_000321.3(RB1):c.449G>C (p.Arg150Thr)	5925	RB1	Uncertain significance	-1	RCV002296752;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919284	48919284	48919284	-
NM_000321.3(RB1):c.452T>A (p.Leu151Gln)	5925	RB1	Conflicting interpretations of pathogenicity	2138087581	RCV002215491\|RCV002337243;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919287	48919287	48919287	-
NM_000321.3(RB1):c.453del (p.Leu151_Leu152insTer)	5925	RB1	Pathogenic	2138087597	RCV001523798;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919288	48919288	48919287	-
NM_000321.3(RB1):c.459G>C (p.Lys153Asn)	5925	RB1	Uncertain significance	773642334	RCV001368843\|RCV003346529;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919294	48919294	48919294	-
NM_000321.3(RB1):c.459del (p.Lys154fs)	5925	RB1	Pathogenic	2138087628	RCV001910839;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919294	48919294	48919293	-
NM_000321.3(RB1):c.463dup (p.Tyr155fs)	5925	RB1	Pathogenic	587778854	RCV000114705;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919297	48919298	13:g.48919297_48919298insT	ClinGen:CA269702	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.462G>A (p.Lys154=)	5925	RB1	Conflicting interpretations of pathogenicity	369830657	RCV000528113\|RCV001022812\|RCV001545276;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48919297	48919297	13:g.48919297G>A	ClinGen:CA038226	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.465_468dup (p.Val157Ter)	5925	RB1	Pathogenic	1566186889	RCV000705554;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919299	48919300	NC_000013.10:g.48919300_48919303dup	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.466G>T (p.Asp156Tyr)	5925	RB1	Uncertain significance	1034616967	RCV001226438\|RCV002339613;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919301	48919301	13:g.48919301G>T	-
NM_000321.3(RB1):c.466G>C (p.Asp156His)	5925	RB1	Uncertain significance	1034616967	RCV001350275\|RCV002341733;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919301	48919301	48919301	-
NM_000321.3(RB1):c.469G>A (p.Val157Ile)	5925	RB1	Uncertain significance	2138087706	RCV002024549;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919304	48919304	48919304	-
NM_000321.3(RB1):c.473T>A (p.Leu158Ter)	5925	RB1	Pathogenic	1952481401	RCV001257127;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919308	48919308	13:g.48919308T>A	-
NM_000321.3(RB1):c.474G>C (p.Leu158Phe)	5925	RB1	Conflicting interpretations of pathogenicity	1319691084	RCV000697025\|RCV002334328\|RCV003238804;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48919309	48919309	NC_000013.10:g.48919309G>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.474G>A (p.Leu158=)	5925	RB1	Likely benign	1319691084	RCV002105047\|RCV002331728;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919309	48919309	48919309	-
NM_000321.3(RB1):c.476T>G (p.Phe159Cys)	5925	RB1	Uncertain significance	2138087738	RCV001954350;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919311	48919311	48919311	-
NM_000321.3(RB1):c.477T>A (p.Phe159Leu)	5925	RB1	Uncertain significance	1952481513	RCV001327710\|RCV002329296;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919312	48919312	48919312	-
NM_000321.3(RB1):c.479C>T (p.Ala160Val)	5925	RB1	Uncertain significance	1952481610	RCV001314959;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919314	48919314	48919314	-
NM_000321.3(RB1):c.480A>G (p.Ala160=)	5925	RB1	Likely benign	776484051	RCV001440059\|RCV003284330;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48919315	48919315	48919315	-
NM_000321.3(RB1):c.485T>A (p.Phe162Tyr)	5925	RB1	Benign/Likely benign	764881599	RCV001023161\|RCV001059649\|RCV002505547;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980; Human Phenotyp	13	48919320	48919320	13:g.48919320T>A	-
NM_000321.3(RB1):c.486C>T (p.Phe162=)	5925	RB1	Likely benign	2138087778	RCV001404004;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919321	48919321	48919321	-
NM_000321.3(RB1):c.495G>A (p.Leu165=)	5925	RB1	Likely benign	2138087832	RCV001452353;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919330	48919330	48919330	-
NM_000321.3(RB1):c.497A>C (p.Glu166Ala)	5925	RB1	Uncertain significance	-1	RCV002300111;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919332	48919332	48919332	-
NM_000321.3(RB1):c.497A>G (p.Glu166Gly)	5925	RB1	Uncertain significance	-1	RCV002934003;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919332	48919332	NC_000013.10:g.48919332A>G	-
NM_000321.3(RB1):c.500+1G>T	5925	RB1	Pathogenic	1131690880	RCV000492213\|RCV002523986;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919336	48919336	13:g.48919336G>T	ClinGen:CA388252868	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.500+6_500+10del	5925	RB1	Uncertain significance	1328603105	RCV001213144;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919336	48919340	13:g.48919336_48919340del	-
NM_000321.3(RB1):c.500+2T>C	5925	RB1	Pathogenic	2138087877	RCV002005116;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919337	48919337	48919337	-
NM_000321.3(RB1):c.500+17A>G	5925	RB1	Likely benign	1483892858	RCV002169300;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919352	48919352	48919352	-
NM_000321.3(RB1):c.500+23T>G	5925	RB1	Benign	198617	RCV000247859\|RCV001689789\|RCV001795390;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48919358	48919358	NC_000013.10:g.48919358T>G	ClinGen:CA038309	CN169374 not specified;
NM_000321.3(RB1):c.501-20C>A	5925	RB1	Likely benign	2138091470	RCV002185291;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921941	48921941	48921941	-
NM_000321.3(RB1):c.501-19A>G	5925	RB1	Likely benign	1210034006	RCV002112759;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921942	48921942	48921942	-
NM_000321.3(RB1):c.501-17_501-15del	5925	RB1	Likely benign	755753209	RCV002110388;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921942	48921944	48921941	-
NM_000321.3(RB1):c.501-18T>A	5925	RB1	Likely benign	2138091486	RCV002084091;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921943	48921943	48921943	-
NM_000321.3(RB1):c.501-17A>T	5925	RB1	Likely benign	-1	RCV003038885;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921944	48921944	NC_000013.10:g.48921944A>T	-
NC_000013.10:g.(?_48921946)_(48922009_?)del	5925	RB1	Uncertain significance	-1	RCV001318854;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921946	48922009	-1	-
NM_000321.3(RB1):c.501-15T>C	5925	RB1	Likely benign	2138091494	RCV002162712;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921946	48921946	48921946	-
NM_000321.3(RB1):c.501-9T>C	5925	RB1	Likely benign	1593437266	RCV001447392;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921952	48921952	13:g.48921952T>C	-
NM_000321.3(RB1):c.501-8C>A	5925	RB1	Likely benign	1952511460	RCV001444692;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921953	48921953	48921953	-
NM_000321.3(RB1):c.501-7T>A	5925	RB1	Likely benign	1031585875	RCV002199597;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921954	48921954	48921954	-
NM_000321.3(RB1):c.501-3C>T	5925	RB1	Uncertain significance	773662417	RCV000691767\|RCV001023419;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48921958	48921958	NC_000013.10:g.48921958C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.506dup (p.Cys169fs)	5925	RB1	Pathogenic	2138091538	RCV001904009;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921965	48921966	48921965	-
NM_000321.3(RB1):c.506G>A (p.Cys169Tyr)	5925	RB1	Uncertain significance	1251503080	RCV001068939\|RCV002339344;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48921966	48921966	13:g.48921966G>A	-
NM_000321.3(RB1):c.506G>C (p.Cys169Ser)	5925	RB1	Uncertain significance	1251503080	RCV001324507;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921966	48921966	48921966	-
NM_000321.3(RB1):c.508G>T (p.Glu170Ter)	5925	RB1	Pathogenic	587778826	RCV000114706;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921968	48921968	13:g.48921968G>T	ClinGen:CA026460	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.508G>A (p.Glu170Lys)	5925	RB1	Uncertain significance	-1	RCV002736654;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921968	48921968	NC_000013.10:g.48921968G>A	-
NM_000321.3(RB1):c.510del (p.Glu170fs)	5925	RB1	Pathogenic	1555283482	RCV000632933;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921969	48921969	NC_000013.10:g.48921970del	ClinGen:CA658798140	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.509A>G (p.Glu170Gly)	5925	RB1	Uncertain significance	-1	RCV002579704;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921969	48921969	NC_000013.10:g.48921969A>G	-
NM_000321.3(RB1):c.510A>G (p.Glu170=)	5925	RB1	Likely benign	-1	RCV002598118;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921970	48921970		-
NM_000321.3(RB1):c.513_515dup (p.Ile172dup)	5925	RB1	Uncertain significance	2138091572	RCV001970821;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921971	48921972	48921971	-
NM_000321.3(RB1):c.514A>G (p.Ile172Val)	5925	RB1	Uncertain significance	2138091600	RCV001365733\|RCV002341775;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48921974	48921974	48921974	-
NM_000321.3(RB1):c.514A>T (p.Ile172Leu)	5925	RB1	Uncertain significance	-1	RCV002338243\|RCV003096631;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921974	48921974	48921974	-
NM_000321.3(RB1):c.515T>C (p.Ile172Thr)	5925	RB1	Uncertain significance	1952511717	RCV001226489\|RCV002339615;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48921975	48921975	13:g.48921975T>C	-
NM_000321.3(RB1):c.520T>G (p.Leu174Val)	5925	RB1	Uncertain significance	1426744051	RCV001345274;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921980	48921980	48921980	-
NM_000321.3(RB1):c.526_532del (p.Gln176fs)	5925	RB1	Pathogenic	1952511865	RCV001035710;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921984	48921990	13:g.48921984_48921990del	-
NM_000321.3(RB1):c.528A>G (p.Gln176=)	5925	RB1	Likely benign	1952511922	RCV001225151;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921988	48921988	13:g.48921988A>G	-
NM_000321.3(RB1):c.529C>T (p.Pro177Ser)	5925	RB1	Uncertain significance	1357310270	RCV000538419\|RCV002350196;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48921989	48921989	13:g.48921989C>T	ClinGen:CA388156840	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.530C>A (p.Pro177His)	5925	RB1	Uncertain significance	1952511945	RCV001229698;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921990	48921990	13:g.48921990C>A	-
NM_000321.3(RB1):c.530C>G (p.Pro177Arg)	5925	RB1	Uncertain significance	1952511945	RCV002010312\|RCV003303609;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48921990	48921990	48921990	-
NM_000321.3(RB1):c.530C>T (p.Pro177Leu)	5925	RB1	Uncertain significance	-1	RCV003067901;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921990	48921990	NC_000013.10:g.48921990C>T	-
NM_000321.3(RB1):c.534_539+5del	5925	RB1	Likely pathogenic	-1	RCV002852118;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921992	48922002	NC_000013.10:g.48921994_48922004del	-
NM_000321.3(RB1):c.533G>A (p.Ser178Asn)	5925	RB1	Uncertain significance	-1	RCV002346884\|RCV003102722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921993	48921993	48921993	-
NM_000321.3(RB1):c.535A>G (p.Ser179Gly)	5925	RB1	Uncertain significance	970490020	RCV001952622;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48921995	48921995	48921995	-
NM_000321.3(RB1):c.536G>T (p.Ser179Ile)	5925	RB1	Uncertain significance	1566187849	RCV000697833\|RCV001023986\|RCV003465601;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48921996	48921996	NC_000013.10:g.48921996G>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.539C>T (p.Ser180Leu)	5925	RB1	Conflicting interpretations of pathogenicity	367654488	RCV000632972\|RCV002343228\|RCV003392470\|RCV003411502;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|	13	48921999	48921999	13:g.48921999C>T	ClinGen:CA038630	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.539+1G>A	5925	RB1	Likely pathogenic	1566187856	RCV000702435\|RCV001024025;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48922000	48922000	NC_000013.10:g.48922000G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.539+1G>C	5925	RB1	Likely pathogenic	-1	RCV002620192;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48922000	48922000	NC_000013.10:g.48922000G>C	-
NM_000321.3(RB1):c.539+3A>G	5925	RB1	Uncertain significance	-1	RCV003081303;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48922002	48922002	NC_000013.10:g.48922002A>G	-
NM_000321.3(RB1):c.539+12A>G	5925	RB1	Likely benign	374509447	RCV002197815;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48922011	48922011	48922011	-
NM_000321.3(RB1):c.539+13C>T	5925	RB1	Likely benign	1408304236	RCV002140634;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48922012	48922012	48922012	-
NM_000321.3(RB1):c.539+13C>G	5925	RB1	Likely benign	1408304236	RCV002218578;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48922012	48922012	48922012	-
NM_000321.3(RB1):c.539+14A>G	5925	RB1	Likely benign	-1	RCV002943902;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48922013	48922013	NC_000013.10:g.48922013A>G	-
NM_000321.3(RB1):c.539+18T>C	5925	RB1	Likely benign	1368410297	RCV002090465;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48922017	48922017	48922017	-
NM_000321.3(RB1):c.540-20G>C	5925	RB1	Likely benign	-1	RCV003060272;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923072	48923072	NC_000013.10:g.48923072G>C	-
NM_000321.3(RB1):c.540-20G>T	5925	RB1	Likely benign	-1	RCV002890375;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923072	48923072	NC_000013.10:g.48923072G>T	-
NM_000321.3(RB1):c.540-17_540-14del	5925	RB1	Likely benign	770994222	RCV002129531;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923073	48923076	48923072	-
NM_000321.3(RB1):c.540-14T>C	5925	RB1	Benign	140706037	RCV002104425;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923078	48923078	48923078	-
NM_000321.3(RB1):c.540-13A>T	5925	RB1	Likely benign	-1	RCV003086134;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923079	48923079	NC_000013.10:g.48923079A>T	-
NM_000321.3(RB1):c.540-10T>G	5925	RB1	Likely benign	-1	RCV003048352;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923082	48923082	NC_000013.10:g.48923082T>G	-
NM_000321.3(RB1):c.540-9G>C	5925	RB1	Likely benign	1340503453	RCV000531756;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923083	48923083	NC_000013.10:g.48923083G>C	ClinGen:CA609572939	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.540-9G>A	5925	RB1	Likely benign	-1	RCV002639302;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923083	48923083	NC_000013.10:g.48923083G>A	-
NM_000321.3(RB1):c.540-6del	5925	RB1	Likely benign	1952522406	RCV002169234;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923084	48923084	48923083	-
NM_000321.3(RB1):c.540-5A>C	5925	RB1	Likely benign	2138093401	RCV001436199;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923087	48923087	48923087	-
NM_000321.3(RB1):c.540-4A>G	5925	RB1	Uncertain significance	2138093406	RCV001366265;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923088	48923088	48923088	-
NM_000321.3(RB1):c.540-3T>C	5925	RB1	Benign/Likely benign	149703672	RCV001024043\|RCV001034022;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923089	48923089	13:g.48923089T>C	-
NM_000321.3(RB1):c.541A>G (p.Ile181Val)	5925	RB1	Uncertain significance	781708508	RCV001351014\|RCV002350658;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923093	48923093	48923093	-
NM_000321.3(RB1):c.545C>A (p.Ser182Tyr)	5925	RB1	Uncertain significance	-1	RCV002922716;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923097	48923097	NC_000013.10:g.48923097C>A	-
NM_000321.3(RB1):c.547A>G (p.Thr183Ala)	5925	RB1	Uncertain significance	1593437952	RCV000803727\|RCV002345801;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923099	48923099	13:g.48923099A>G	-
NM_000321.3(RB1):c.548C>T (p.Thr183Ile)	5925	RB1	Uncertain significance	1952522583	RCV001343521\|RCV003169651;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923100	48923100	48923100	-
NM_000321.3(RB1):c.549T>C (p.Thr183=)	5925	RB1	Likely benign	147793910	RCV001498801\|RCV002343678;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923101	48923101	48923101	-
NM_000321.3(RB1):c.552A>C (p.Glu184Asp)	5925	RB1	Uncertain significance	1220347917	RCV000632958\|RCV002343227;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923104	48923104	13:g.48923104A>C	ClinGen:CA388156901	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.554T>G (p.Ile185Arg)	5925	RB1	Uncertain significance	-1	RCV003066442\|RCV003170981;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923106	48923106	NC_000013.10:g.48923106T>G	-
NM_000321.3(RB1):c.560C>T (p.Ser187Phe)	5925	RB1	Conflicting interpretations of pathogenicity	770277291	RCV001024323\|RCV001246900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923112	48923112	13:g.48923112C>T	-
NM_000321.3(RB1):c.560C>G (p.Ser187Cys)	5925	RB1	Uncertain significance	770277291	RCV001303376\|RCV002350550;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923112	48923112	48923112	-
NM_000321.3(RB1):c.562G>A (p.Ala188Thr)	5925	RB1	Uncertain significance	1189153218	RCV000692163\|RCV001024341;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923114	48923114	NC_000013.10:g.48923114G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.564A>G (p.Ala188=)	5925	RB1	Likely benign	1952522861	RCV002157276;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923116	48923116	48923116	-
NM_000321.3(RB1):c.565T>C (p.Leu189=)	5925	RB1	Likely benign	2138093547	RCV002151134\|RCV002346516;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923117	48923117	48923117	-
NM_000321.3(RB1):c.566T>A (p.Leu189Ter)	5925	RB1	Pathogenic	2138093555	RCV001380247;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923118	48923118	48923118	-
NM_000321.3(RB1):c.570G>A (p.Val190=)	5925	RB1	Likely benign	775061547	RCV000840887\|RCV001500029\|RCV002347864;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923122	48923122	NC_000013.10:g.48923122G>A	ClinGen:CA038829	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.571C>T (p.Leu191=)	5925	RB1	Benign/Likely benign	538578527	RCV000546642\|RCV001024450;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923123	48923123	13:g.48923123C>T	ClinGen:CA038852	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.577G>C (p.Val193Leu)	5925	RB1	Uncertain significance	1952523027	RCV001224305\|RCV002356953;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923129	48923129	13:g.48923129G>C	-
NM_000321.3(RB1):c.578T>C (p.Val193Ala)	5925	RB1	Uncertain significance	1060503093	RCV000476719\|RCV003168838;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923130	48923130	NC_000013.10:g.48923130T>C	ClinGen:CA16613998	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.586A>G (p.Ile196Val)	5925	RB1	Uncertain significance	1952523113	RCV001297982;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923138	48923138	48923138	-
NM_000321.3(RB1):c.589A>G (p.Thr197Ala)	5925	RB1	Uncertain significance	1421476380	RCV001072028;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923141	48923141	13:g.48923141A>G	-
NM_000321.3(RB1):c.596del (p.Leu199fs)	5925	RB1	Pathogenic	2138093700	RCV001949654;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923144	48923144	48923143	-
NM_000321.3(RB1):c.596T>A (p.Leu199Ter)	5925	RB1	Pathogenic	121913298	RCV000437633;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923148	48923148	13:g.48923148T>A	ClinGen:CA16602773	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.597_601dup (p.Ala201delinsAspTer)	5925	RB1	Pathogenic	1555283670	RCV000626660;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923148	48923149	13:g.48923148_48923149insATTAG	ClinGen:CA658798141	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.597del (p.Leu199fs)	5925	RB1	Pathogenic	2138093727	RCV001949294;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923149	48923149	48923148	-
NM_000321.3(RB1):c.600A>C (p.Leu200Phe)	5925	RB1	Uncertain significance	-1	RCV002295021;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923152	48923152	48923152	-
NM_000321.3(RB1):c.606del (p.Glu204fs)	5925	RB1	Pathogenic	1593438023	RCV000989109;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923156	48923156	13:g.48923156_48923156del	-
NM_000321.3(RB1):c.607G>T (p.Gly203Trp)	5925	RB1	Uncertain significance	1012377281	RCV000531975\|RCV002358465;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923159	48923159	NC_000013.10:g.48923159G>T	ClinGen:CA249269407	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.607G>C (p.Gly203Arg)	5925	RB1	Uncertain significance	1012377281	RCV000709344;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923159	48923159	13:g.48923159G>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.607G>A (p.Gly203Arg)	5925	RB1	Uncertain significance	1012377281	RCV001959469;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923159	48923159	48923159	-
NM_000321.3(RB1):c.607+1G>T	5925	RB1	Pathogenic	587776789	RCV000013969\|RCV000492204\|RCV000484757;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48923160	48923160	13:g.48923160G>T	ClinGen:CA026463,OMIM:614041.0025	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.607+1G>A	5925	RB1	Pathogenic	587776789	RCV000483814\|RCV000492670\|RCV000786882\|RCV002525820;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0013699,MedGen:C1838333,OMIM:614337, Orphanet:144\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923160	48923160	13:g.48923160G>A	ClinGen:CA16619811	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.607+2dup	5925	RB1	Pathogenic/Likely pathogenic	1131690895	RCV000492470\|RCV001042526;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923160	48923161	NC_000013.10:g.48923161dup	ClinGen:CA645369532	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.607+1G>C	5925	RB1	Pathogenic	587776789	RCV001959117\|RCV002352655;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48923160	48923160	48923160	-
NM_000321.3(RB1):c.607+8C>T	5925	RB1	Likely benign	1555283680	RCV000552404;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923167	48923167	13:g.48923167C>T	ClinGen:CA658656349	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.607+12A>G	5925	RB1	Likely benign	-1	RCV002885928;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923171	48923171	NC_000013.10:g.48923171A>G	-
NM_000321.3(RB1):c.607+13T>A	5925	RB1	Likely benign	750225169	RCV002093458;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48923172	48923172	48923172	-
NM_000321.3(RB1):c.608-19A>G	5925	RB1	Likely benign	-1	RCV003045054;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934134	48934134	NC_000013.10:g.48934134A>G	-
NM_000321.3(RB1):c.608-17G>A	5925	RB1	Likely benign	1186097725	RCV002140409;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934136	48934136	48934136	-
NM_000321.3(RB1):c.608-16T>A	5925	RB1	Likely benign	936403247	RCV002212781;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934137	48934137	48934137	-
NM_000321.3(RB1):c.608-14C>T	5925	RB1	Likely benign	-1	RCV003035158;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934139	48934139	NC_000013.10:g.48934139C>T	-
NM_000321.3(RB1):c.608-13A>T	5925	RB1	Likely benign	751643356	RCV002196508;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934140	48934140	48934140	-
NM_000321.3(RB1):c.608-13A>C	5925	RB1	Likely benign	751643356	RCV002145391;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934140	48934140	48934140	-
NM_000321.3(RB1):c.608-4dup	5925	RB1	Benign/Likely benign	762805947	RCV002176607\|RCV002256940;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934140	48934141	48934140	-
NM_000321.3(RB1):c.608-4del	5925	RB1	Benign/Likely benign	762805947	RCV000363829\|RCV000574026\|RCV000843883\|RCV002469125;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	13	48934141	48934141	NC_000013.10:g.48934149del	ClinGen:CA6978886	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.608-12T>C	5925	RB1	Likely benign	-1	RCV002599535;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934141	48934141	NC_000013.10:g.48934141T>C	-
NM_000321.3(RB1):c.608-11T>C	5925	RB1	Likely benign	1158572664	RCV002082812;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934142	48934142	48934142	-
NM_000321.3(RB1):c.608-11T>G	5925	RB1	Likely benign	-1	RCV002914792;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934142	48934142	NC_000013.10:g.48934142T>G	-
NM_000321.3(RB1):c.608-10T>C	5925	RB1	Likely benign	1039235140	RCV001405011;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934143	48934143	NC_000013.10:g.48934143T>C	ClinGen:CA16614000	C0035335 180200 Retinoblastoma;
NC_000013.11:g.(?_48360007)_(48368614_?)del	5925	RB1	Pathogenic	-1	RCV000817277;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934143	48942750		-
NM_000321.3(RB1):c.608-9T>G	5925	RB1	Likely benign	781780669	RCV000546846;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934144	48934144	NC_000013.10:g.48934144T>G	ClinGen:CA039106	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.608-7T>G	5925	RB1	Likely benign	746360576	RCV000949866;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934146	48934146	13:g.48934146T>G	-
NM_000321.3(RB1):c.608-3C>G	5925	RB1	Uncertain significance	1952624919	RCV001062491;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934150	48934150	13:g.48934150C>G	-
NM_000321.3(RB1):c.608-2del	5925	RB1	Uncertain significance	1952624973	RCV001342399;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934151	48934151	48934150	-
NC_000013.11:g.48360019del	5925	RB1	Pathogenic	-1	RCV003062580;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934152	48934152		-
NM_000321.3(RB1):c.608G>A (p.Gly203Glu)	5925	RB1	Uncertain significance	2138107541	RCV001902349\|RCV002359306;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934153	48934153	48934153	-
NM_000321.3(RB1):c.609G>A (p.Gly203=)	5925	RB1	Likely benign	2138107549	RCV001449485;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934154	48934154	48934154	-
NM_000321.3(RB1):c.610G>A (p.Glu204Lys)	5925	RB1	Uncertain significance	1340261233	RCV001959630;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934155	48934155	48934155	-
NM_000321.3(RB1):c.610G>T (p.Glu204Ter)	5925	RB1	Pathogenic	1340261233	RCV001953895;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934155	48934155	48934155	-
NM_000321.3(RB1):c.611_612insTTTTTT (p.Glu204delinsAspPheLeu)	5925	RB1	Uncertain significance	1593443469	RCV000989110;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934156	48934157	13:g.48934156_48934157insTTTTTT	-
NM_000321.3(RB1):c.611A>T (p.Glu204Val)	5925	RB1	Uncertain significance	-1	RCV003013168;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934156	48934156	NC_000013.10:g.48934156A>T	-
NM_000321.3(RB1):c.613G>A (p.Val205Ile)	5925	RB1	Uncertain significance	770100636	RCV000476876\|RCV001024932;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934158	48934158	NC_000013.10:g.48934158G>A	ClinGen:CA039119	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.616T>C (p.Leu206=)	5925	RB1	Conflicting interpretations of pathogenicity	886050270	RCV000269222\|RCV002356422;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934161	48934161	13:g.48934161T>C	ClinGen:CA10634444	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.618A>G (p.Leu206=)	5925	RB1	Likely benign	1593443486	RCV002118350\|RCV002352901;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934163	48934163	48934163	-
NM_000321.3(RB1):c.619C>A (p.Gln207Lys)	5925	RB1	Uncertain significance	2138107604	RCV001372733;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934164	48934164	48934164	-
NM_000321.3(RB1):c.619C>T (p.Gln207Ter)	5925	RB1	Pathogenic	2138107604	RCV002272784;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934164	48934164	48934164	-
NM_000321.3(RB1):c.621A>C (p.Gln207His)	5925	RB1	Uncertain significance	1952625195	RCV002016038;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934166	48934166	48934166	-
NM_000321.3(RB1):c.621A>G (p.Gln207=)	5925	RB1	Likely benign	-1	RCV002366486\|RCV003103276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934166	48934166		-
NM_000321.3(RB1):c.628G>T (p.Asp210Tyr)	5925	RB1	Conflicting interpretations of pathogenicity	148992508	RCV000034597\|RCV000492290\|RCV000601517\|RCV001079302;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934173	48934173	13:g.48934173G>T	ClinGen:CA026464	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.630T>A (p.Asp210Glu)	5925	RB1	Uncertain significance	1952625286	RCV001223161\|RCV002366006;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934175	48934175	13:g.48934175T>A	-
NM_000321.3(RB1):c.630T>C (p.Asp210=)	5925	RB1	Likely benign	1952625286	RCV002089137;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934175	48934175	48934175	-
NM_000321.3(RB1):c.634C>A (p.Leu212Met)	5925	RB1	Uncertain significance	147085238	RCV001057563\|RCV002365719;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934179	48934179	13:g.48934179C>A	-
NM_000321.3(RB1):c.634C>T (p.Leu212=)	5925	RB1	Likely benign	147085238	RCV001474647\|RCV002368452;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934179	48934179	48934179	-
NM_000321.3(RB1):c.640A>G (p.Ile214Val)	5925	RB1	Uncertain significance	1952625382	RCV001220343;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934185	48934185	13:g.48934185A>G	-
NM_000321.3(RB1):c.643T>C (p.Ser215Pro)	5925	RB1	Uncertain significance	748923368	RCV001025270\|RCV001326894;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934188	48934188	13:g.48934188T>C	-
NM_000321.3(RB1):c.644C>A (p.Ser215Ter)	5925	RB1	Pathogenic	768305224	RCV000492073\|RCV000812389;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934189	48934189	13:g.48934189C>A	ClinGen:CA388158248	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.644C>T (p.Ser215Leu)	5925	RB1	Uncertain significance	768305224	RCV001341831\|RCV002368127;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934189	48934189	48934189	-
NM_000321.3(RB1):c.644C>G (p.Ser215Ter)	5925	RB1	Pathogenic	-1	RCV003062581;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934189	48934189	NC_000013.10:g.48934189C>G	-
NM_000321.3(RB1):c.649del (p.Gln217fs)	5925	RB1	Pathogenic	1593443514	RCV000989111;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934194	48934194	13:g.48934194_48934194del	-
NM_000321.3(RB1):c.652T>G (p.Leu218Val)	5925	RB1	Likely pathogenic	1566191596	RCV000693455;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934197	48934197	NC_000013.10:g.48934197T>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.656T>C (p.Met219Thr)	5925	RB1	Uncertain significance	1952625561	RCV001060902;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934201	48934201	13:g.48934201T>C	-
NM_000321.3(RB1):c.656T>A (p.Met219Lys)	5925	RB1	Uncertain significance	1952625561	RCV001201492;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934201	48934201	13:g.48934201T>A	-
NM_000321.3(RB1):c.658C>T (p.Leu220=)	5925	RB1	Likely benign	367960214	RCV000233629\|RCV001025434;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934203	48934203	NC_000013.10:g.48934203C>T	ClinGen:CA039161	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.658C>A (p.Leu220Ile)	5925	RB1	Uncertain significance	-1	RCV002913870;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934203	48934203	NC_000013.10:g.48934203C>A	-
NM_000321.3(RB1):c.660A>G (p.Leu220=)	5925	RB1	Conflicting interpretations of pathogenicity	886449283	RCV000702022\|RCV002360806;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934205	48934205	NC_000013.10:g.48934205A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.674A>G (p.Tyr225Cys)	5925	RB1	Uncertain significance	771567627	RCV002033850\|RCV002361368;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934219	48934219	48934219	-
NM_000321.3(RB1):c.679A>G (p.Ile227Val)	5925	RB1	Uncertain significance	-1	RCV003099072\|RCV003294500;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934224	48934224	NC_000013.10:g.48934224A>G	-
NM_000321.3(RB1):c.685C>T (p.Leu229Phe)	5925	RB1	Benign	766131342	RCV000535072\|RCV001025740;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934230	48934230	13:g.48934230C>T	ClinGen:CA039248	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.687C>T (p.Leu229=)	5925	RB1	Likely benign	2138107911	RCV001463751;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934232	48934232	48934232	-
NM_000321.3(RB1):c.688T>G (p.Ser230Ala)	5925	RB1	Uncertain significance	1952625902	RCV001319434;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934233	48934233	48934233	-
NM_000321.3(RB1):c.689C>T (p.Ser230Leu)	5925	RB1	Uncertain significance	1459523811	RCV000818155\|RCV002363141;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934234	48934234	13:g.48934234C>T	-
NM_000321.3(RB1):c.690A>T (p.Ser230=)	5925	RB1	Likely benign	2138107923	RCV002214935;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934235	48934235	48934235	-
NM_000321.3(RB1):c.691C>T (p.Pro231Ser)	5925	RB1	Uncertain significance	1952625956	RCV001342968;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934236	48934236	48934236	-
NM_000321.3(RB1):c.692C>T (p.Pro231Leu)	5925	RB1	Uncertain significance	2138107936	RCV001981816;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934237	48934237	48934237	-
NM_000321.3(RB1):c.694C>T (p.Pro232Ser)	5925	RB1	Conflicting interpretations of pathogenicity	1195873978	RCV000545275\|RCV001025836\|RCV003470734;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48934239	48934239	NC_000013.10:g.48934239C>T	ClinGen:CA388158529	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.696C>T (p.Pro232=)	5925	RB1	Likely benign	-1	RCV002889447;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934241	48934241		-
NM_000321.3(RB1):c.697A>G (p.Met233Val)	5925	RB1	Conflicting interpretations of pathogenicity	770860809	RCV000559948\|RCV002367788\|RCV003470735;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48934242	48934242	13:g.48934242A>G	ClinGen:CA249273488	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.699G>A (p.Met233Ile)	5925	RB1	Uncertain significance	1952626050	RCV001347440\|RCV003169698;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934244	48934244	48934244	-
NM_000321.3(RB1):c.700T>G (p.Leu234Val)	5925	RB1	Uncertain significance	1362138725	RCV002026300\|RCV003161231;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934245	48934245	48934245	-
NM_000321.3(RB1):c.702G>A (p.Leu234=)	5925	RB1	Likely benign	1479014864	RCV002188489;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934247	48934247	48934247	-
NM_000321.3(RB1):c.707A>G (p.Lys236Arg)	5925	RB1	Uncertain significance	1952626193	RCV001343280;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934252	48934252	48934252	-
NM_000321.3(RB1):c.708A>C (p.Lys236Asn)	5925	RB1	Uncertain significance	1173696113	RCV001788980;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934253	48934253	48934253	-
NM_000321.3(RB1):c.718A>G (p.Lys240Glu)	5925	RB1	Uncertain significance	2138108056	RCV001372288\|RCV002377556;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48934263	48934263	48934263	-
NM_000321.3(RB1):c.718+5G>T	5925	RB1	Conflicting interpretations of pathogenicity	1131690848	RCV000492375\|RCV001070474;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934268	48934268	13:g.48934268G>T	ClinGen:CA645369535	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.718+8_718+11del	5925	RB1	Likely benign	1593443613	RCV001459130;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934269	48934272	13:g.48934269_48934272del	-
NM_000321.3(RB1):c.718+7A>G	5925	RB1	Likely benign	774694773	RCV001432464;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934270	48934270	48934270	-
NM_000321.3(RB1):c.718+10T>C	5925	RB1	Likely benign	-1	RCV003064509;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934273	48934273	NC_000013.10:g.48934273T>C	-
NM_000321.3(RB1):c.718+12A>G	5925	RB1	Benign	535040007	RCV002129842;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934275	48934275	48934275	-
NM_000321.3(RB1):c.718+12A>C	5925	RB1	Likely benign	-1	RCV003055360;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934275	48934275	NC_000013.10:g.48934275A>C	-
NM_000321.3(RB1):c.718+14T>A	5925	RB1	Likely benign	1335503262	RCV002160228;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934277	48934277	48934277	-
NM_000321.3(RB1):c.718+18G>T	5925	RB1	Likely benign	2138108129	RCV002071247;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48934281	48934281	48934281	-
NM_000321.3(RB1):c.719-11C>T	5925	RB1	Likely benign	919154164	RCV002205737;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936940	48936940	48936940	-
NM_000321.3(RB1):c.719-10A>G	5925	RB1	Likely benign	2138112023	RCV002082386;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936941	48936941	48936941	-
NM_000321.3(RB1):c.719-8T>C	5925	RB1	Likely benign	754589578	RCV000227333;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936943	48936943	NC_000013.10:g.48936943T>C	ClinGen:CA039382	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.719-3C>T	5925	RB1	Uncertain significance	2138112047	RCV001999691;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936948	48936948	48936948	-
NM_000321.3(RB1):c.719-2A>T	5925	RB1	Likely pathogenic	1952654925	RCV001196348;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936949	48936949	13:g.48936949A>T	-
NM_000321.3(RB1):c.719-2A>C	5925	RB1	Uncertain significance	1952654925	RCV001319561;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936949	48936949	48936949	-
NM_000321.3(RB1):c.719-1_719delinsAG	5925	RB1	Likely pathogenic	2138112061	RCV001523799;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936950	48936951	48936950	-
NM_000321.3(RB1):c.720A>G (p.Lys240=)	5925	RB1	Likely benign	1555284919	RCV000632984;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936952	48936952	NC_000013.10:g.48936952A>G	ClinGen:CA483557820	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.722C>T (p.Thr241Ile)	5925	RB1	Uncertain significance	1593445085	RCV001026182\|RCV001873406;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936954	48936954	13:g.48936954C>T	-
NM_000321.3(RB1):c.722del (p.Thr241fs)	5925	RB1	Uncertain significance	-1	RCV003154604;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936954	48936954		-
NM_000321.3(RB1):c.723A>G (p.Thr241=)	5925	RB1	Likely benign	-1	RCV002371037\|RCV003098514;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936955	48936955		-
NM_000321.3(RB1):c.726dup (p.Val243fs)	5925	RB1	Pathogenic	1593445096	RCV000810383;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936957	48936958	13:g.48936957_48936958insT	-
NM_000321.3(RB1):c.725C>G (p.Ala242Gly)	5925	RB1	Uncertain significance	-1	RCV002876968;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936957	48936957	NC_000013.10:g.48936957C>G	-
NM_000321.3(RB1):c.727G>C (p.Val243Leu)	5925	RB1	Uncertain significance	1952655034	RCV001340167\|RCV002384458;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48936959	48936959	48936959	-
NM_000321.3(RB1):c.730A>T (p.Ile244Leu)	5925	RB1	Uncertain significance	778605591	RCV001871475;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936962	48936962	48936962	-
NM_000321.3(RB1):c.731T>C (p.Ile244Thr)	5925	RB1	Conflicting interpretations of pathogenicity	147754935	RCV000533722\|RCV001026275;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48936963	48936963	NC_000013.10:g.48936963T>C	ClinGen:CA039420	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.733C>T (p.Pro245Ser)	5925	RB1	Uncertain significance	1952655166	RCV001222289;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936965	48936965	13:g.48936965C>T	-
NM_000321.3(RB1):c.734C>T (p.Pro245Leu)	5925	RB1	Uncertain significance	2138112166	RCV001977132;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936966	48936966	48936966	-
NM_000321.3(RB1):c.735C>T (p.Pro245=)	5925	RB1	Likely benign	771620677	RCV001446220;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936967	48936967	13:g.48936967C>T	-
NM_000321.3(RB1):c.739A>G (p.Asn247Asp)	5925	RB1	Uncertain significance	1429451823	RCV001303031\|RCV002384365\|RCV003416174;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	13	48936971	48936971	48936971	-
NM_000321.3(RB1):c.744T>C (p.Gly248=)	5925	RB1	Likely benign	1297277579	RCV001026450\|RCV002551963;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936976	48936976	13:g.48936976T>C	-
NM_000321.3(RB1):c.745T>A (p.Ser249Thr)	5925	RB1	Uncertain significance	2138112221	RCV001980376\|RCV003348724;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48936977	48936977	48936977	-
NM_000321.3(RB1):c.748C>T (p.Pro250Ser)	5925	RB1	Uncertain significance	1566192505	RCV001298460\|RCV002393706;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48936980	48936980	48936980	-
NM_000321.3(RB1):c.749C>G (p.Pro250Arg)	5925	RB1	Uncertain significance	1952655335	RCV001340667;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936981	48936981	48936981	-
NM_000321.3(RB1):c.751C>T (p.Arg251Ter)	5925	RB1	Pathogenic	1131690863	RCV000492399\|RCV000548468;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936983	48936983	NC_000013.10:g.48936983C>T	ClinGen:CA388159319	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.752G>A (p.Arg251Gln)	5925	RB1	Conflicting interpretations of pathogenicity	772678500	RCV000697570\|RCV000763899\|RCV002388279;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500, Orphanet:668; Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C01499	13	48936984	48936984	NC_000013.10:g.48936984G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.754A>T (p.Thr252Ser)	5925	RB1	Uncertain significance	1952655426	RCV001212235;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936986	48936986	13:g.48936986A>T	-
NM_000321.3(RB1):c.756A>G (p.Thr252=)	5925	RB1	Likely benign	1469535414	RCV001464396;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936988	48936988	48936988	-
NM_000321.3(RB1):c.757C>A (p.Pro253Thr)	5925	RB1	Uncertain significance	1952655473	RCV001203986;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936989	48936989	13:g.48936989C>A	-
NM_000321.3(RB1):c.757C>G (p.Pro253Ala)	5925	RB1	Uncertain significance	-1	RCV003024777;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936989	48936989	NC_000013.10:g.48936989C>G	-
NM_000321.3(RB1):c.760A>G (p.Arg254Gly)	5925	RB1	Uncertain significance	2138112300	RCV001938089\|RCV002388822;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48936992	48936992	48936992	-
NM_000321.3(RB1):c.761G>A (p.Arg254Lys)	5925	RB1	Conflicting interpretations of pathogenicity	200674097	RCV000699465\|RCV001026628\|RCV003460960;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48936993	48936993	NC_000013.10:g.48936993G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.762G>T (p.Arg254Ser)	5925	RB1	Uncertain significance	-1	RCV002304751;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936994	48936994	48936994	-
NM_000321.3(RB1):c.763C>T (p.Arg255Ter)	5925	RB1	Pathogenic	587778842	RCV000114712\|RCV000492345\|RCV000790825;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48936995	48936995	13:g.48936995C>T	ClinGen:CA026466	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.763C>G (p.Arg255Gly)	5925	RB1	Uncertain significance	587778842	RCV001912460;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936995	48936995	48936995	-
NM_000321.3(RB1):c.763C>A (p.Arg255=)	5925	RB1	Likely benign	-1	RCV002654664;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936995	48936995		-
NM_000321.3(RB1):c.764G>A (p.Arg255Gln)	5925	RB1	Uncertain significance	746954896	RCV001026664\|RCV001862376;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936996	48936996	13:g.48936996G>A	-
NM_000321.3(RB1):c.766G>A (p.Gly256Ser)	5925	RB1	Uncertain significance	-1	RCV003056038;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936998	48936998	NC_000013.10:g.48936998G>A	-
NM_000321.3(RB1):c.768dup (p.Gln257fs)	5925	RB1	Pathogenic	2138112354	RCV001533522;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48936999	48937000	48936999	-
NM_000321.3(RB1):c.772_776del (p.Asn258fs)	5925	RB1	Pathogenic	1566192530	RCV000699397\|RCV002397438\|RCV003332238;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48937001	48937005	NC_000013.10:g.48937004_48937008del	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.770A>G (p.Gln257Arg)	5925	RB1	Uncertain significance	1232080974	RCV000697565\|RCV001026741;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937002	48937002	13:g.48937002A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.773A>G (p.Asn258Ser)	5925	RB1	Uncertain significance	-1	RCV002625178;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937005	48937005	NC_000013.10:g.48937005A>G	-
NM_000321.3(RB1):c.774C>T (p.Asn258=)	5925	RB1	Likely benign	-1	RCV003019538;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937006	48937006		-
NM_000321.3(RB1):c.775A>T (p.Arg259Trp)	5925	RB1	Uncertain significance	1299654789	RCV001917367;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937007	48937007	48937007	-
NM_000321.3(RB1):c.779G>C (p.Ser260Thr)	5925	RB1	Uncertain significance	1342634687	RCV001062828;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937011	48937011	13:g.48937011G>C	-
NM_000321.3(RB1):c.782C>T (p.Ala261Val)	5925	RB1	Conflicting interpretations of pathogenicity	776307088	RCV000704004\|RCV003380697;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937014	48937014	NC_000013.10:g.48937014C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.783A>G (p.Ala261=)	5925	RB1	Likely benign	759311626	RCV000527870;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937015	48937015	NC_000013.10:g.48937015A>G	ClinGen:CA039509	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.784C>T (p.Arg262Trp)	5925	RB1	Conflicting interpretations of pathogenicity	556201144	RCV000466550\|RCV002411502;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937016	48937016	NC_000013.10:g.48937016C>T	ClinGen:CA16614007	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.785G>A (p.Arg262Gln)	5925	RB1	Uncertain significance	752342013	RCV001044586\|RCV003160326;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937017	48937017	13:g.48937017G>A	-
NM_000321.3(RB1):c.787del (p.Arg262_Ile263insTer)	5925	RB1	Pathogenic	2138112461	RCV001898449;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937019	48937019	48937018	-
NM_000321.3(RB1):c.795del (p.Lys265fs)	5925	RB1	Pathogenic	587778827	RCV000114713;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937024	48937024	13:g.48937024_48937024del	ClinGen:CA026467	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.794AAC[3] (p.Gln266dup)	5925	RB1	Uncertain significance	2138112498	RCV002005146;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937025	48937026	48937025	-
NM_000321.3(RB1):c.798A>G (p.Gln266=)	5925	RB1	Likely benign	-1	RCV003050929;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937030	48937030		-
NM_000321.3(RB1):c.799C>G (p.Leu267Val)	5925	RB1	Uncertain significance	1593445172	RCV000817113;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937031	48937031	13:g.48937031C>G	-
NM_000321.3(RB1):c.800del (p.Leu267fs)	5925	RB1	Pathogenic	1566192557	RCV000684936;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937032	48937032	NC_000013.10:g.48937032del	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.806A>G (p.Asn269Ser)	5925	RB1	Uncertain significance	1952656398	RCV001959657;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937038	48937038	48937038	-
NM_000321.3(RB1):c.807T>G (p.Asn269Lys)	5925	RB1	Uncertain significance	922948338	RCV000538040\|RCV002420375;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937039	48937039	NC_000013.10:g.48937039T>G	ClinGen:CA249274436	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.810T>C (p.Asp270=)	5925	RB1	Likely benign	1555284937	RCV001027191\|RCV001495268;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937042	48937042	NC_000013.10:g.48937042T>C	ClinGen:CA483557910	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.811A>G (p.Thr271Ala)	5925	RB1	Uncertain significance	1461707277	RCV001876893;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937043	48937043	48937043	-
NM_000321.3(RB1):c.812C>T (p.Thr271Ile)	5925	RB1	Uncertain significance	1191072088	RCV001045195\|RCV002416366;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937044	48937044	13:g.48937044C>T	-
NM_000321.3(RB1):c.813A>G (p.Thr271=)	5925	RB1	Likely benign	1264516748	RCV001479595\|RCV002421097;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937045	48937045	48937045	-
NM_000321.3(RB1):c.815G>A (p.Arg272Lys)	5925	RB1	Uncertain significance	2138112612	RCV001923345;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937047	48937047	48937047	-
NM_000321.3(RB1):c.826G>T (p.Val276Phe)	5925	RB1	Uncertain significance	2138112665	RCV002021513;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937058	48937058	48937058	-
NM_000321.3(RB1):c.840dup (p.His281fs)	5925	RB1	Pathogenic	2138112755	RCV001523842;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937070	48937071	48937070	-
NM_000321.3(RB1):c.838G>A (p.Glu280Lys)	5925	RB1	Uncertain significance	2138112743	RCV001998442;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937070	48937070	48937070	-
NM_000321.3(RB1):c.840A>G (p.Glu280=)	5925	RB1	Likely benign	762092062	RCV001476412\|RCV002444979;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937072	48937072	13:g.48937072A>G	-
NM_000321.3(RB1):c.841C>T (p.His281Tyr)	5925	RB1	Uncertain significance	933023013	RCV001999433\|RCV003339883;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937073	48937073	48937073	-
NM_000321.3(RB1):c.847T>C (p.Cys283Arg)	5925	RB1	Uncertain significance	-1	RCV003444451;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937079	48937079		-
NM_000321.3(RB1):c.849_856del (p.Cys283_Asp286delinsTer)	5925	RB1	Pathogenic	1593445220	RCV000793959;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937080	48937087	13:g.48937080_48937087del	-
NM_000321.3(RB1):c.848G>A (p.Cys283Tyr)	5925	RB1	Uncertain significance	1273219762	RCV001062650;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937080	48937080	13:g.48937080G>A	-
NM_000321.3(RB1):c.849T>C (p.Cys283=)	5925	RB1	Likely benign	2138112820	RCV001403534;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937081	48937081	48937081	-
NM_000321.3(RB1):c.850A>G (p.Asn284Asp)	5925	RB1	Conflicting interpretations of pathogenicity	761609284	RCV000541240\|RCV000763900\|RCV001017932;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980; Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C00	13	48937082	48937082	NC_000013.10:g.48937082A>G	ClinGen:CA039582	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.852T>C (p.Asn284=)	5925	RB1	Likely benign	1952657073	RCV001457272\|RCV003298787;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937084	48937084	48937084	-
NM_000321.3(RB1):c.853A>G (p.Ile285Val)	5925	RB1	Uncertain significance	1593445228	RCV000798763\|RCV002442647;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937085	48937085	13:g.48937085A>G	-
NM_000321.3(RB1):c.855A>G (p.Ile285Met)	5925	RB1	Uncertain significance	1566192594	RCV001884334\|RCV002449533;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48937087	48937087	48937087	-
NM_000321.3(RB1):c.856_857insTA (p.Asp286fs)	5925	RB1	Pathogenic	2138112865	RCV001533518;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937088	48937089	48937088	-
NM_000321.3(RB1):c.857A>G (p.Asp286Gly)	5925	RB1	Pathogenic/Likely pathogenic	1131690864	RCV000492155\|RCV000684899;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937089	48937089	NC_000013.10:g.48937089A>G	ClinGen:CA388159708	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.859G>T (p.Glu287Ter)	5925	RB1	Pathogenic	1593445246	RCV000806858\|RCV002264985;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	48937091	48937091	13:g.48937091G>T	-
NM_000321.3(RB1):c.860A>G (p.Glu287Gly)	5925	RB1	Uncertain significance	1952657220	RCV001314108;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937092	48937092	48937092	-
NM_000321.3(RB1):c.861G>C (p.Glu287Asp)	5925	RB1	Pathogenic	1555284956	RCV000555963;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937093	48937093	13:g.48937093G>C	ClinGen:CA388159722	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.861G>A (p.Glu287=)	5925	RB1	Pathogenic	1555284956	RCV000632959;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937093	48937093	NC_000013.10:g.48937093G>A	ClinGen:CA483557973	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.861+1G>A	5925	RB1	Pathogenic	-1	RCV003062582;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937094	48937094	NC_000013.10:g.48937094G>A	-
NM_000321.3(RB1):c.861+5T>G	5925	RB1	Likely benign	-1	RCV003065618;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937098	48937098	NC_000013.10:g.48937098T>G	-
NM_000321.3(RB1):c.861+6T>C	5925	RB1	Uncertain significance	373380507	RCV001965924;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937099	48937099	48937099	-
NM_000321.3(RB1):c.861+8A>T	5925	RB1	Likely benign	2138112923	RCV002142675;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937101	48937101	48937101	-
NM_000321.3(RB1):c.861+9A>G	5925	RB1	Likely benign	2138112929	RCV002119132;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937102	48937102	48937102	-
NM_000321.3(RB1):c.861+14A>G	5925	RB1	Likely benign	-1	RCV003002444;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937107	48937107	NC_000013.10:g.48937107A>G	-
NM_000321.3(RB1):c.861+16G>A	5925	RB1	Likely benign	756590822	RCV002200321;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937109	48937109	48937109	-
NM_000321.3(RB1):c.861+16G>T	5925	RB1	Likely benign	756590822	RCV002217665;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937109	48937109	48937109	-
NC_000013.10:g.(?_48937921)_(48942750_?)del	5925	RB1	Pathogenic	-1	RCV001383353;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48937921	48942750	-1	-
NM_000321.3(RB1):c.862-20T>C	5925	RB1	Likely benign	1042945773	RCV002093226;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939010	48939010	48939010	-
NM_000321.3(RB1):c.862-19G>C	5925	RB1	Likely benign	1321331035	RCV002079512;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939011	48939011	48939011	-
NM_000321.3(RB1):c.862-19G>T	5925	RB1	Likely benign	1321331035	RCV002175027;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939011	48939011	48939011	-
NM_000321.3(RB1):c.862-19del	5925	RB1	Likely benign	2138116175	RCV002129458;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939011	48939011	48939010	-
NM_000321.3(RB1):c.862-18_862-17del	5925	RB1	Likely benign	-1	RCV002627223;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939012	48939013	NC_000013.10:g.48939012_48939013del	-
NM_000321.3(RB1):c.862-15C>A	5925	RB1	Benign/Likely benign	115108608	RCV000333631\|RCV000615711;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	48939015	48939015	13:g.48939015C>A	ClinGen:CA039677	CN169374 not specified;
NM_000321.3(RB1):c.862-14T>G	5925	RB1	Likely benign	2138116202	RCV002159301;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939016	48939016	48939016	-
NM_000321.3(RB1):c.862-14T>C	5925	RB1	Likely benign	2138116202	RCV002156155;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939016	48939016	48939016	-
NM_000321.3(RB1):c.862-12C>T	5925	RB1	Likely benign	2138116208	RCV002134950;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939018	48939018	48939018	-
NM_000321.3(RB1):c.862-12C>G	5925	RB1	Likely benign	2138116208	RCV002205784;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939018	48939018	48939018	-
NC_000013.10:g.(?_48939020)_(48939117_?)del	5925	RB1	Uncertain significance	-1	RCV001908104;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939020	48939117	-1	-
NM_000321.3(RB1):c.862-9C>T	5925	RB1	Likely benign	2138116225	RCV001393784;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939021	48939021	48939021	-
NM_000321.3(RB1):c.862-8T>C	5925	RB1	Likely benign	745767704	RCV000459135;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939022	48939022	NC_000013.10:g.48939022T>C	ClinGen:CA039714	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.862-4del	5925	RB1	Likely benign	1555285114	RCV000632977;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939022	48939022	NC_000013.10:g.48939026del	ClinGen:CA658798144	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.862-4T>G	5925	RB1	Likely benign	-1	RCV002695383;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939026	48939026	NC_000013.10:g.48939026T>G	-
NM_000321.3(RB1):c.862-1G>C	5925	RB1	Pathogenic	2138116265	RCV001388712;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939029	48939029	48939029	-
NM_000321.3(RB1):c.862G>A (p.Val288Met)	5925	RB1	Uncertain significance	1555285117	RCV000632927;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939030	48939030	13:g.48939030G>A	ClinGen:CA388159825	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.868_869dup (p.Asn290fs)	5925	RB1	Uncertain significance	-1	RCV003154579;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939032	48939033		-
NM_000321.3(RB1):c.869del (p.Asn290fs)	5925	RB1	Pathogenic	1131690901	RCV000492694\|RCV000699793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939033	48939033	13:g.48939033_48939033del	ClinGen:CA645369539	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.867A>C (p.Lys289Asn)	5925	RB1	Uncertain significance	1555285126	RCV000569991\|RCV001054663;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939035	48939035	NC_000013.10:g.48939035A>C	ClinGen:CA388159845	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.873T>G (p.Val291=)	5925	RB1	Likely benign	2138116330	RCV002167803;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939041	48939041	48939041	-
NM_000321.3(RB1):c.876T>C (p.Tyr292=)	5925	RB1	Likely benign	2138116341	RCV001399405\|RCV002377603;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939044	48939044	48939044	-
NM_000321.3(RB1):c.884dup (p.Asn295fs)	5925	RB1	Pathogenic	587778828	RCV000114714;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939047	48939048	13:g.48939047_48939048insA	ClinGen:CA269711	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.879C>T (p.Phe293=)	5925	RB1	Likely benign	775381228	RCV001454238;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939047	48939047	13:g.48939047C>T	-
NM_000321.3(RB1):c.879C>A (p.Phe293Leu)	5925	RB1	Uncertain significance	775381228	RCV001227129;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939047	48939047	13:g.48939047C>A	-
NM_000321.3(RB1):c.881A>C (p.Lys294Thr)	5925	RB1	Uncertain significance	1453047397	RCV000794865\|RCV002442627;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939049	48939049	13:g.48939049A>C	-
NM_000321.3(RB1):c.889A>T (p.Ile297Leu)	5925	RB1	Uncertain significance	1286975378	RCV001953344\|RCV002370585\|RCV003471095;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48939057	48939057	48939057	-
NM_000321.3(RB1):c.890T>C (p.Ile297Thr)	5925	RB1	Uncertain significance	1593446608	RCV000792703;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939058	48939058	13:g.48939058T>C	-
NM_000321.3(RB1):c.891A>G (p.Ile297Met)	5925	RB1	Uncertain significance	1952680086	RCV001315290\|RCV002375401;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939059	48939059	48939059	-
NM_000321.3(RB1):c.892C>A (p.Pro298Thr)	5925	RB1	Uncertain significance	2138116427	RCV001876856;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939060	48939060	48939060	-
NM_000321.3(RB1):c.892C>T (p.Pro298Ser)	5925	RB1	Uncertain significance	2138116427	RCV001948808;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939060	48939060	48939060	-
NM_000321.3(RB1):c.897T>A (p.Phe299Leu)	5925	RB1	Uncertain significance	772362181	RCV000812372\|RCV002370189;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939065	48939065	13:g.48939065T>A	-
NM_000321.3(RB1):c.898A>C (p.Met300Leu)	5925	RB1	Conflicting interpretations of pathogenicity	1060503086	RCV000471474\|RCV002374802;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939066	48939066	NC_000013.10:g.48939066A>C	ClinGen:CA16614038	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.898A>G (p.Met300Val)	5925	RB1	Uncertain significance	1060503086	RCV000700289;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939066	48939066	NC_000013.10:g.48939066A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.899T>G (p.Met300Arg)	5925	RB1	Uncertain significance	-1	RCV002810486;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939067	48939067	NC_000013.10:g.48939067T>G	-
NM_000321.3(RB1):c.905C>A (p.Ser302Tyr)	5925	RB1	Uncertain significance	1208736713	RCV000525153\|RCV001018731;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939073	48939073	NC_000013.10:g.48939073C>A	ClinGen:CA388159994	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.905C>T (p.Ser302Phe)	5925	RB1	Uncertain significance	1208736713	RCV001018735\|RCV002549484;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939073	48939073	13:g.48939073C>T	-
NM_000321.3(RB1):c.905C>G (p.Ser302Cys)	5925	RB1	Uncertain significance	-1	RCV002603969;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939073	48939073	NC_000013.10:g.48939073C>G	-
NM_000321.3(RB1):c.908T>G (p.Leu303Arg)	5925	RB1	Uncertain significance	900955797	RCV001018825\|RCV001069558;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939076	48939076	13:g.48939076T>G	-
NM_000321.3(RB1):c.908T>C (p.Leu303Pro)	5925	RB1	Uncertain significance	900955797	RCV001220023;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939076	48939076	13:g.48939076T>C	-
NM_000321.3(RB1):c.912A>G (p.Gly304=)	5925	RB1	Likely benign	1593446655	RCV001499788\|RCV002372587;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939080	48939080	13:g.48939080A>G	-
NM_000321.3(RB1):c.913C>T (p.Leu305Phe)	5925	RB1	Uncertain significance	1292944238	RCV001919653\|RCV002370534;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939081	48939081	48939081	-
NM_000321.3(RB1):c.913C>G (p.Leu305Val)	5925	RB1	Uncertain significance	-1	RCV002972650;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939081	48939081	NC_000013.10:g.48939081C>G	-
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)	5925	RB1	Benign/Likely benign	183898408	RCV000121926\|RCV000492127\|RCV000989112\|RCV001719890;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48939088	48939088	13:g.48939088C>T	ClinGen:CA026468	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.921A>G (p.Thr307=)	5925	RB1	Likely benign	1268911747	RCV001415376\|RCV002377648;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939089	48939089	48939089	-
NM_000321.3(RB1):c.926A>G (p.Asn309Ser)	5925	RB1	Uncertain significance	1952680701	RCV001239767\|RCV002447196;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939094	48939094	13:g.48939094A>G	-
NM_000321.3(RB1):c.927T>C (p.Asn309=)	5925	RB1	Likely benign	2138116635	RCV002212314;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939095	48939095	48939095	-
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)	5925	RB1	Conflicting interpretations of pathogenicity	200844292	RCV000232627\|RCV000456021\|RCV000563177\|RCV000730555;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48939097	48939097	13:g.48939097G>A	ClinGen:CA039832,UniProtKB:P06400#VAR_010045	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.937G>T (p.Glu313Ter)	5925	RB1	Pathogenic	587778843	RCV000114715;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939105	48939105	13:g.48939105G>T	ClinGen:CA026469	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.938A>G (p.Glu313Gly)	5925	RB1	Uncertain significance	-1	RCV003062583;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939106	48939106	NC_000013.10:g.48939106A>G	-
NM_000321.3(RB1):c.939G>A (p.Glu313=)	5925	RB1	Likely pathogenic	2138116702	RCV001377729;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939107	48939107	48939107	-
NM_000321.3(RB1):c.939+1G>A	5925	RB1	Pathogenic	2138116708	RCV001523805;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939108	48939108	48939108	-
NM_000321.3(RB1):c.939+1G>C	5925	RB1	Pathogenic	2138116708	RCV001919410;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939108	48939108	48939108	-
NM_000321.3(RB1):c.939+2T>C	5925	RB1	Pathogenic	1952680837	RCV001051823;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939109	48939109	13:g.48939109T>C	-
NM_000321.3(RB1):c.939+3A>T	5925	RB1	Uncertain significance	1555285148	RCV000632944;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939110	48939110	13:g.48939110A>T	ClinGen:CA658798145	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.939+5T>G	5925	RB1	Uncertain significance	1952680873	RCV001045749\|RCV003160343;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48939112	48939112	13:g.48939112T>G	-
NM_000321.3(RB1):c.939+8G>C	5925	RB1	Likely benign	-1	RCV003011525;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939115	48939115	NC_000013.10:g.48939115G>C	-
NM_000321.3(RB1):c.939+12G>A	5925	RB1	Likely benign	1214700401	RCV002098596;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939119	48939119	48939119	-
NM_000321.3(RB1):c.939+13G>A	5925	RB1	Likely benign	754419372	RCV002085616;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939120	48939120	48939120	-
NM_000321.3(RB1):c.939+19del	5925	RB1	Likely benign	-1	RCV002877456;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48939124	48939124	NC_000013.10:g.48939126del	-
NM_000321.3(RB1):c.940-21C>A	5925	RB1	Benign/Likely benign	559042622	RCV001513103\|RCV001557434\|RCV002256816;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941609	48941609	48941609	-
NM_000321.3(RB1):c.940-20A>G	5925	RB1	Likely benign	2138120861	RCV002075393;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941610	48941610	48941610	-
NM_000321.3(RB1):c.940-17G>A	5925	RB1	Likely benign	2138120867	RCV002130272;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941613	48941613	48941613	-
NM_000321.3(RB1):c.940-10_940-9del	5925	RB1	Likely benign	774207778	RCV002212010;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941616	48941617	48941615	-
NM_000321.3(RB1):c.940-13T>C	5925	RB1	Likely benign	2138120882	RCV002172377;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941617	48941617	48941617	-
NM_000321.3(RB1):c.940-8C>A	5925	RB1	Likely benign	-1	RCV003009335;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941622	48941622	NC_000013.10:g.48941622C>A	-
NM_000321.3(RB1):c.940-5T>C	5925	RB1	Uncertain significance	1289148853	RCV001230720;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941625	48941625	13:g.48941625T>C	-
NM_000321.3(RB1):c.940-1G>A	5925	RB1	Pathogenic	1131690860	RCV000492095\|RCV000701287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941629	48941629	NC_000013.10:g.48941629G>A	ClinGen:CA388160560	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.940-1G>T	5925	RB1	Pathogenic	1131690860	RCV000541021;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941629	48941629	NC_000013.10:g.48941629G>T	ClinGen:CA388160564	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.940G>T (p.Val314Phe)	5925	RB1	Uncertain significance	1566194312	RCV000709345;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941630	48941630	13:g.48941630G>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.941T>A (p.Val314Asp)	5925	RB1	Conflicting interpretations of pathogenicity	780006952	RCV000866271\|RCV002442821\|RCV002510994;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48941631	48941631	13:g.48941631T>A	-
NM_000321.3(RB1):c.941T>C (p.Val314Ala)	5925	RB1	Uncertain significance	-1	RCV002373985\|RCV003103585;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941631	48941631	48941631	-
NM_000321.3(RB1):c.947A>G (p.Asn316Ser)	5925	RB1	Conflicting interpretations of pathogenicity	2138120959	RCV001899006\|RCV002370492;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941637	48941637	48941637	-
NM_000321.3(RB1):c.951_954del (p.Ser318fs)	5925	RB1	Pathogenic	1566194323	RCV000686416;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941638	48941641	13:g.48941638_48941641del	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.948T>C (p.Asn316=)	5925	RB1	Likely benign	749023632	RCV001452721\|RCV002377750;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941638	48941638	48941638	-
NM_000321.3(RB1):c.951T>G (p.Leu317=)	5925	RB1	Likely benign	2138120995	RCV002092000;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941641	48941641	48941641	-
NM_000321.3(RB1):c.952T>C (p.Ser318Pro)	5925	RB1	Uncertain significance	-1	RCV002300058;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941642	48941642	48941642	-
NM_000321.3(RB1):c.953C>G (p.Ser318Cys)	5925	RB1	Uncertain significance	886050271	RCV000274995;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941643	48941643	13:g.48941643C>G	ClinGen:CA10643558	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.954T>C (p.Ser318=)	5925	RB1	Likely benign	2138121014	RCV001460856;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941644	48941644	48941644	-
NM_000321.3(RB1):c.958C>T (p.Arg320Ter)	5925	RB1	Pathogenic	121913300	RCV000114716\|RCV000492534\|RCV001558107;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48941648	48941648	13:g.48941648C>T	ClinGen:CA026470	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.958C>G (p.Arg320Gly)	5925	RB1	Conflicting interpretations of pathogenicity	121913300	RCV000812789\|RCV002381810;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941648	48941648	13:g.48941648C>G	-
NM_000321.3(RB1):c.959G>A (p.Arg320Gln)	5925	RB1	Likely benign	760787104	RCV000572744\|RCV001046752;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941649	48941649	13:g.48941649G>A	ClinGen:CA040077	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.959G>T (p.Arg320Leu)	5925	RB1	Uncertain significance	760787104	RCV000700340\|RCV002369921;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941649	48941649	NC_000013.10:g.48941649G>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.961T>C (p.Tyr321His)	5925	RB1	Uncertain significance	2138121056	RCV001891625;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941651	48941651	48941651	-
NM_000321.3(RB1):c.962A>G (p.Tyr321Cys)	5925	RB1	Uncertain significance	1566194338	RCV000699731\|RCV001019577;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941652	48941652	13:g.48941652A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.963C>T (p.Tyr321=)	5925	RB1	Likely benign	377235036	RCV000900031\|RCV001019581;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941653	48941653	13:g.48941653C>T	-
NM_000321.3(RB1):c.963del (p.Arg320_Tyr321insTer)	5925	RB1	Pathogenic	1952715820	RCV001294162\|RCV002375336;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941653	48941653	48941652	-
NM_000321.3(RB1):c.963C>G (p.Tyr321Ter)	5925	RB1	Pathogenic	377235036	RCV002002434;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941653	48941653	48941653	-
NM_000321.3(RB1):c.964G>A (p.Glu322Lys)	5925	RB1	Uncertain significance	776534331	RCV001037332\|RCV002372754\|RCV003461436;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48941654	48941654	13:g.48941654G>A	-
NM_000321.3(RB1):c.965A>G (p.Glu322Gly)	5925	RB1	Conflicting interpretations of pathogenicity	142620145	RCV001044302\|RCV003160322;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941655	48941655	13:g.48941655A>G	-
NM_000321.3(RB1):c.967G>T (p.Glu323Ter)	5925	RB1	Pathogenic	1060503077	RCV000471380;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941657	48941657	NC_000013.10:g.48941657G>T	ClinGen:CA16614439	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.971T>C (p.Ile324Thr)	5925	RB1	Uncertain significance	-1	RCV002596260;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941661	48941661	NC_000013.10:g.48941661T>C	-
NM_000321.3(RB1):c.976C>T (p.Leu326Phe)	5925	RB1	Uncertain significance	1566194351	RCV000699780\|RCV001019734;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941666	48941666	NC_000013.10:g.48941666C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.977T>C (p.Leu326Pro)	5925	RB1	Uncertain significance	-1	RCV003036468;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941667	48941667	NC_000013.10:g.48941667T>C	-
NM_000321.3(RB1):c.979_1033dup (p.Thr345delinsLysLysTer)	5925	RB1	Pathogenic	1555285429	RCV000013956;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941668	48941669	13:g.48941668_48941669insAAAAATAAAGATCTAGATGCAAGATTATTTTTGGATCATGATAAAACTCTTCAGA	ClinGen:CA256704,dbVar:nssv3761600,OMIM:614041.0013	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.982_987del (p.Asn328_Lys329del)	5925	RB1	Uncertain significance	878853952	RCV000227594\|RCV003343714;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941668	48941673	13:g.48941668_48941673del	ClinGen:CA10583157	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.978T>G (p.Leu326=)	5925	RB1	Likely benign	2138121153	RCV001411590\|RCV003298682;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941668	48941668	48941668	-
NM_000321.3(RB1):c.983dup (p.Asn328fs)	5925	RB1	Pathogenic	2138121175	RCV001946774;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941668	48941669	48941668	-
NM_000321.3(RB1):c.983del (p.Asn328fs)	5925	RB1	Pathogenic	2138121175	RCV001941856;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941669	48941669	48941668	-
NM_000321.3(RB1):c.984T>A (p.Asn328Lys)	5925	RB1	Uncertain significance	1952716275	RCV001306965\|RCV002384377;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941674	48941674	48941674	-
NM_000321.3(RB1):c.985A>C (p.Lys329Gln)	5925	RB1	Uncertain significance	2138121199	RCV001922206;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941675	48941675	48941675	-
NM_000321.3(RB1):c.988G>C (p.Asp330His)	5925	RB1	Uncertain significance	-1	RCV002816667;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941678	48941678	NC_000013.10:g.48941678G>C	-
NM_000321.3(RB1):c.990T>A (p.Asp330Glu)	5925	RB1	Uncertain significance	2138121244	RCV001934986;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941680	48941680	48941680	-
NM_000321.3(RB1):c.993A>G (p.Leu331=)	5925	RB1	Likely benign	-1	RCV003035346;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941683	48941683		-
NM_000321.3(RB1):c.998C>A (p.Ala333Glu)	5925	RB1	Uncertain significance	-1	RCV003072494;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941688	48941688	NC_000013.10:g.48941688C>A	-
NM_000321.3(RB1):c.999A>C (p.Ala333=)	5925	RB1	Likely benign	1254874409	RCV001019963\|RCV001487624;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941689	48941689	13:g.48941689A>C	-
NM_000321.3(RB1):c.1002del (p.Arg334fs)	5925	RB1	Likely pathogenic	1593448449	RCV000786933;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941692	48941692	13:g.48941692_48941692del	-
NM_000321.3(RB1):c.1005A>G (p.Leu335=)	5925	RB1	Likely benign	-1	RCV002928139;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941695	48941695		-
NM_000321.3(RB1):c.1016A>G (p.His339Arg)	5925	RB1	Uncertain significance	1566194383	RCV000705482;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941706	48941706	13:g.48941706A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1017T>C (p.His339=)	5925	RB1	Likely benign	1161993720	RCV000980045;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941707	48941707	13:g.48941707T>C	-
NM_000321.3(RB1):c.1017T>A (p.His339Gln)	5925	RB1	Uncertain significance	1161993720	RCV001338894;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941707	48941707	48941707	-
NM_000321.3(RB1):c.1020T>A (p.Asp340Glu)	5925	RB1	Uncertain significance	-1	RCV003017419;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941710	48941710	NC_000013.10:g.48941710T>A	-
NM_000321.3(RB1):c.1021A>T (p.Lys341Ter)	5925	RB1	Pathogenic	587778855	RCV000114717;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941711	48941711	13:g.48941711A>T	ClinGen:CA026357	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1024del (p.Thr342fs)	5925	RB1	Pathogenic	587778844	RCV000114718\|RCV000492203;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941711	48941711	13:g.48941711_48941711del	ClinGen:CA026358	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1022A>G (p.Lys341Arg)	5925	RB1	Uncertain significance	1393042716	RCV001312830\|RCV002447323;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941712	48941712	48941712	-
NM_000321.3(RB1):c.1023A>T (p.Lys341Asn)	5925	RB1	Uncertain significance	2138121417	RCV002009046;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941713	48941713	48941713	-
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser)	5925	RB1	Uncertain significance	751263356	RCV000693501\|RCV001269244\|RCV002386205;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941714	48941714	NC_000013.10:g.48941714A>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1025C>T (p.Thr342Ile)	5925	RB1	Uncertain significance	-1	RCV002937540\|RCV003167948;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941715	48941715	NC_000013.10:g.48941715C>T	-
NM_000321.3(RB1):c.1031_1034del (p.Gln344fs)	5925	RB1	Pathogenic	2138121452	RCV001533524;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941720	48941723	48941719	-
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg)	5925	RB1	Uncertain significance	1566194400	RCV000709346;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941721	48941721	NC_000013.10:g.48941721A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1035T>G (p.Thr345=)	5925	RB1	Likely benign	2138121485	RCV002097233;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941725	48941725	48941725	-
NM_000321.3(RB1):c.1036G>C (p.Asp346His)	5925	RB1	Uncertain significance	2138121489	RCV001885711;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941726	48941726	48941726	-
NM_000321.3(RB1):c.1037A>C (p.Asp346Ala)	5925	RB1	Uncertain significance	1566194403	RCV000797773\|RCV002388454;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941727	48941727	13:g.48941727A>C	-
NM_000321.3(RB1):c.1041T>A (p.Ser347=)	5925	RB1	Likely benign	1354204219	RCV001444653;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941731	48941731	48941731	-
NM_000321.3(RB1):c.1043T>C (p.Ile348Thr)	5925	RB1	Conflicting interpretations of pathogenicity	1295421967	RCV000700816\|RCV002397449;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941733	48941733	NC_000013.10:g.48941733T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1047C>T (p.Asp349=)	5925	RB1	Uncertain significance	-1	RCV002853396;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941737	48941737		-
NM_000321.3(RB1):c.1049+1G>T	5925	RB1	Likely pathogenic	587776782	RCV000013950\|RCV002399322;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941740	48941740	13:g.48941740G>T	ClinGen:CA026361,OMIM:614041.0007	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1049+1G>A	5925	RB1	Pathogenic/Likely pathogenic	587776782	RCV000114719\|RCV000492362;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48941740	48941740	13:g.48941740G>A	ClinGen:CA026360	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1049+2T>A	5925	RB1	Pathogenic	41287453	RCV001380199;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941741	48941741	48941741	-
NM_000321.3(RB1):c.1049+3A>G	5925	RB1	Pathogenic	1566194415	RCV000695277;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941742	48941742	NC_000013.10:g.48941742A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1049+5T>G	5925	RB1	Uncertain significance	1593448511	RCV000817549;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941744	48941744	13:g.48941744T>G	-
NM_000321.3(RB1):c.1049+7C>A	5925	RB1	Likely benign	1301800960	RCV001500337;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941746	48941746	48941746	-
NM_000321.3(RB1):c.1049+8A>C	5925	RB1	Likely benign	-1	RCV003029066;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941747	48941747	NC_000013.10:g.48941747A>C	-
NM_000321.3(RB1):c.1049+8A>G	5925	RB1	Likely benign	-1	RCV003059229;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941747	48941747	NC_000013.10:g.48941747A>G	-
NM_000321.3(RB1):c.1049+11T>G	5925	RB1	Likely benign	-1	RCV002880631;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941750	48941750	NC_000013.10:g.48941750T>G	-
NM_000321.3(RB1):c.1049+18T>C	5925	RB1	Likely benign	2138121610	RCV002103830;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941757	48941757	48941757	-
NM_000321.3(RB1):c.1049+20T>C	5925	RB1	Likely benign	756125607	RCV002162272;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48941759	48941759	48941759	-
NM_000321.3(RB1):c.1050-20C>G	5925	RB1	Likely benign	-1	RCV002856668;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942643	48942643	NC_000013.10:g.48942643C>G	-
NM_000321.3(RB1):c.1050-17C>T	5925	RB1	Likely benign	-1	RCV003032056;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942646	48942646	NC_000013.10:g.48942646C>T	-
NM_000321.3(RB1):c.1050-15C>T	5925	RB1	Likely benign	776037881	RCV002078492;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942648	48942648	48942648	-
NM_000321.3(RB1):c.1050-9_1050-7del	5925	RB1	Likely benign	2138123077	RCV001438422;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942652	48942654	48942651	-
NM_000321.3(RB1):c.1050-11T>C	5925	RB1	Likely benign	201410490	RCV002215443;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942652	48942652	48942652	-
NM_000321.3(RB1):c.1050-8_1050-2del	5925	RB1	Pathogenic	2138123098	RCV001374399;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942655	48942661	48942654	-
NM_000321.3(RB1):c.1050-6A>T	5925	RB1	Likely benign	2138123102	RCV002170289;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942657	48942657	48942657	-
NM_000321.3(RB1):c.1053del (p.Phe351fs)	5925	RB1	Pathogenic	1952726441	RCV001066074;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942663	48942663	13:g.48942663_48942663del	-
NM_000321.3(RB1):c.1050T>G (p.Ser350Arg)	5925	RB1	Uncertain significance	-1	RCV002824423;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942663	48942663	NC_000013.10:g.48942663T>G	-
NM_000321.3(RB1):c.1051T>G (p.Phe351Val)	5925	RB1	Uncertain significance	-1	RCV002954272;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942664	48942664	NC_000013.10:g.48942664T>G	-
NM_000321.3(RB1):c.1054del (p.Glu352fs)	5925	RB1	Pathogenic	1952726482	RCV001211166;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942667	48942667	13:g.48942667_48942667del	-
NM_000321.3(RB1):c.1060_1061del (p.Gln354fs)	5925	RB1	Pathogenic	587778829	RCV000114720\|RCV000492557;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48942670	48942671	13:g.48942670_48942671del	ClinGen:CA026362	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1057A>G (p.Thr353Ala)	5925	RB1	Uncertain significance	-1	RCV002695448;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942670	48942670	NC_000013.10:g.48942670A>G	-
NM_000321.3(RB1):c.1065A>T (p.Arg355Ser)	5925	RB1	Uncertain significance	-1	RCV002414892\|RCV003097304;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942678	48942678	48942678	-
NM_000321.3(RB1):c.1066A>C (p.Thr356Pro)	5925	RB1	Uncertain significance	2138123180	RCV002012268\|RCV002407163;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48942679	48942679	48942679	-
NM_000321.3(RB1):c.1067C>T (p.Thr356Ile)	5925	RB1	Uncertain significance	774525913	RCV000815778\|RCV003461237;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48942680	48942680	13:g.48942680C>T	-
NM_000321.3(RB1):c.1068A>T (p.Thr356=)	5925	RB1	Likely benign	-1	RCV003021325;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942681	48942681		-
NM_000321.3(RB1):c.1069C>T (p.Pro357Ser)	5925	RB1	Uncertain significance	568421803	RCV001867348;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942682	48942682	48942682	-
NM_000321.3(RB1):c.1072C>T (p.Arg358Ter)	5925	RB1	Pathogenic	121913301	RCV000013951\|RCV000492492\|RCV000725187;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48942685	48942685	13:g.48942685C>T	ClinGen:CA026363,OMIM:614041.0008	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1072C>G (p.Arg358Gly)	5925	RB1	Uncertain significance	121913301	RCV001899288;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942685	48942685	48942685	-
NM_000321.3(RB1):c.1073G>A (p.Arg358Gln)	5925	RB1	Conflicting interpretations of pathogenicity	767011440	RCV000469444\|RCV002418415\|RCV003318582;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48942686	48942686	NC_000013.10:g.48942686G>A	ClinGen:CA027547	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1080T>G (p.Ser360Arg)	5925	RB1	Uncertain significance	1198811715	RCV002023557;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942693	48942693	48942693	-
NM_000321.3(RB1):c.1083C>A (p.Asn361Lys)	5925	RB1	Conflicting interpretations of pathogenicity	976503237	RCV000699895\|RCV003163242;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48942696	48942696	NC_000013.10:g.48942696C>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1083C>T (p.Asn361=)	5925	RB1	Likely benign	976503237	RCV000863986\|RCV002427108;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48942696	48942696	13:g.48942696C>T	-
NM_000321.3(RB1):c.1084C>T (p.Leu362Phe)	5925	RB1	Uncertain significance	1952727001	RCV001338265\|RCV003169590;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48942697	48942697	48942697	-
NM_000321.3(RB1):c.1085T>C (p.Leu362Pro)	5925	RB1	Uncertain significance	1566194740	RCV001967254;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942698	48942698	48942698	-
NM_000321.3(RB1):c.1086T>G (p.Leu362=)	5925	RB1	Likely benign	1212481028	RCV001017168\|RCV002068945;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942699	48942699	13:g.48942699T>G	-
NM_000321.3(RB1):c.1093G>C (p.Glu365Gln)	5925	RB1	Uncertain significance	1270702085	RCV000632962\|RCV002448949\|RCV003459513;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48942706	48942706	NC_000013.10:g.48942706G>C	ClinGen:CA388161247	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1093G>A (p.Glu365Lys)	5925	RB1	Uncertain significance	1270702085	RCV000811611;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942706	48942706	13:g.48942706G>A	-
NM_000321.3(RB1):c.1095G>C (p.Glu365Asp)	5925	RB1	Uncertain significance	750094760	RCV000694026\|RCV002458244;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48942708	48942708	13:g.48942708G>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1096G>A (p.Val366Met)	5925	RB1	Uncertain significance	1952727256	RCV001371415;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942709	48942709	48942709	-
NM_000321.3(RB1):c.1098G>A (p.Val366=)	5925	RB1	Uncertain significance	-1	RCV002727216;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942711	48942711		-
NM_000321.3(RB1):c.1101T>C (p.Asn367=)	5925	RB1	Likely benign	2138123377	RCV001429555;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942714	48942714	48942714	-
NM_000321.3(RB1):c.1102G>A (p.Val368Ile)	5925	RB1	Uncertain significance	1049721	RCV001961259;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942715	48942715	48942715	-
NM_000321.3(RB1):c.1102G>T (p.Val368Leu)	5925	RB1	Uncertain significance	1049721	RCV002050483;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942715	48942715	48942715	-
NM_000321.3(RB1):c.1104A>T (p.Val368=)	5925	RB1	Likely benign	2138123394	RCV001468558;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942717	48942717	48942717	-
NM_000321.3(RB1):c.1107T>C (p.Ile369=)	5925	RB1	Uncertain significance	587778856	RCV000114721;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942720	48942720	13:g.48942720T>C	ClinGen:CA026364	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1108C>T (p.Pro370Ser)	5925	RB1	Uncertain significance	1168863456	RCV000541581\|RCV002431548\|RCV003235276;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48942721	48942721	13:g.48942721C>T	ClinGen:CA388161312	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1110T>G (p.Pro370=)	5925	RB1	Likely benign	2138123414	RCV001445509;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942723	48942723	48942723	-
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser)	5925	RB1	Uncertain significance	1952727399	RCV001228386\|RCV002249815;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	48942724	48942724	13:g.48942724C>T	-
NM_000321.3(RB1):c.1113A>G (p.Pro371=)	5925	RB1	Likely benign	2138123437	RCV002177770\|RCV002441270;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48942726	48942726	48942726	-
NM_000321.3(RB1):c.1115A>T (p.His372Leu)	5925	RB1	Uncertain significance	1015497370	RCV001316528;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942728	48942728	48942728	-
NM_000321.3(RB1):c.1117A>T (p.Thr373Ser)	5925	RB1	Uncertain significance	1952727463	RCV001231641;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942730	48942730	13:g.48942730A>T	-
NM_000321.3(RB1):c.1119T>C (p.Thr373=)	5925	RB1	Likely benign	1593449062	RCV000981617;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942732	48942732	13:g.48942732T>C	-
NM_000321.3(RB1):c.1123G>C (p.Val375Leu)	5925	RB1	Uncertain significance	1952727557	RCV001325823\|RCV002438746\|RCV003462901;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48942736	48942736	48942736	-
NM_000321.3(RB1):c.1126A>G (p.Arg376Gly)	5925	RB1	Uncertain significance	1952727580	RCV001308672;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942739	48942739	48942739	-
NM_000321.3(RB1):c.1127G>A (p.Arg376Lys)	5925	RB1	Uncertain significance	1952727608	RCV001339020;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942740	48942740	48942740	-
NM_000321.3(RB1):c.1127+7A>G	5925	RB1	Likely benign	1952727668	RCV002184169;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942747	48942747	48942747	-
NM_000321.3(RB1):c.1127+16del	5925	RB1	Likely benign	2138123576	RCV002139961;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942756	48942756	48942755	-
NM_000321.3(RB1):c.1127+20del	5925	RB1	Benign	1952727808	RCV002155050;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942757	48942757	48942756	-
NM_000321.3(RB1):c.1127+17T>C	5925	RB1	Likely benign	1183838675	RCV002144750;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942757	48942757	48942757	-
NM_000321.3(RB1):c.1127+18T>C	5925	RB1	Likely benign	-1	RCV003092086;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48942758	48942758	NC_000013.10:g.48942758T>C	-
NM_000321.3(RB1):c.1128-45C>T	5925	RB1	Benign	1285629437	RCV000989113;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947496	48947496	13:g.48947496C>T	-
NM_000321.3(RB1):c.1128-43C>T	5925	RB1	Benign	955333850	RCV000989114;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947498	48947498	13:g.48947498C>T	-
NM_000321.3(RB1):c.1128-19C>T	5925	RB1	Likely benign	2138130759	RCV002199121;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947522	48947522	48947522	-
NM_000321.3(RB1):c.1128-17A>G	5925	RB1	Likely benign	-1	RCV002624794;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947524	48947524	NC_000013.10:g.48947524A>G	-
NM_000321.3(RB1):c.1128-11A>G	5925	RB1	Likely benign	-1	RCV002962522;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947530	48947530	NC_000013.10:g.48947530A>G	-
NC_000013.10:g.(?_48947531)_(48947691_?)del	5925	RB1	Pathogenic	-1	RCV001383150;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947531	48947691	-1	-
NC_000013.10:g.(?_48947531)_(48955589_?)del	5925	RB1	Pathogenic	-1	RCV003111009;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947531	48955589		-
NM_000321.3(RB1):c.1128-9C>T	5925	RB1	Likely benign	1205440981	RCV001469889;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947532	48947532	48947532	-
NM_000321.3(RB1):c.1128-8C>T	5925	RB1	Likely benign	-1	RCV002982292;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947533	48947533	NC_000013.10:g.48947533C>T	-
NM_000321.3(RB1):c.1128-6C>T	5925	RB1	Likely benign	1566196389	RCV000868715;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947535	48947535	13:g.48947535C>T	-
NM_000321.3(RB1):c.1128-5del	5925	RB1	Likely benign	886038280	RCV000245002\|RCV000632985\|RCV002319472;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947536	48947536	NC_000013.10:g.48947536del	ClinGen:CA10587171	CN169374 not specified;
NM_000321.3(RB1):c.1128-5T>C	5925	RB1	Likely benign	2138130820	RCV001445150;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947536	48947536	48947536	-
NM_000321.3(RB1):c.1128-4C>T	5925	RB1	Likely benign	2138130838	RCV001496346;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947537	48947537	48947537	-
NM_000321.3(RB1):c.1128-3T>C	5925	RB1	Uncertain significance	2138130844	RCV001889611;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947538	48947538	48947538	-
NM_000321.3(RB1):c.1128-1G>A	5925	RB1	Pathogenic	2138130852	RCV002044891\|RCV002466706;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48947540	48947540	48947540	-
NM_000321.3(RB1):c.1128G>C (p.Arg376Ser)	5925	RB1	Conflicting interpretations of pathogenicity	908738769	RCV001051798\|RCV002320287;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947541	48947541	13:g.48947541G>C	-
NM_000321.3(RB1):c.1129A>T (p.Thr377Ser)	5925	RB1	Benign/Likely benign	146897002	RCV000575152\|RCV000989115\|RCV001557297;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48947542	48947542	13:g.48947542A>T	ClinGen:CA027663	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1131T>C (p.Thr377=)	5925	RB1	Likely benign	1414284893	RCV000616788\|RCV001310691\|RCV002064176\|RCV002325169;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947544	48947544	13:g.48947544T>C	ClinGen:CA483558919	CN169374 not specified;
NM_000321.3(RB1):c.1132G>A (p.Val378Ile)	5925	RB1	Uncertain significance	-1	RCV003014852;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947545	48947545	NC_000013.10:g.48947545G>A	-
NM_000321.3(RB1):c.1139A>G (p.Asn380Ser)	5925	RB1	Conflicting interpretations of pathogenicity	1470523018	RCV000632965\|RCV002325217;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947552	48947552	NC_000013.10:g.48947552A>G	ClinGen:CA388161451	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1140C>T (p.Asn380=)	5925	RB1	Benign/Likely benign	117865557	RCV000330255\|RCV000569762\|RCV000614338;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	13	48947553	48947553	13:g.48947553C>T	ClinGen:CA027691	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1144A>G (p.Ile382Val)	5925	RB1	Uncertain significance	1286489738	RCV001208378\|RCV002451448;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947557	48947557	13:g.48947557A>G	-
NM_000321.3(RB1):c.1147dup (p.Gln383fs)	5925	RB1	Pathogenic	587778830	RCV000114722;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947558	48947559	13:g.48947558_48947559insC	ClinGen:CA269720	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1146C>A (p.Ile382=)	5925	RB1	Likely benign	2138130975	RCV001481837;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947559	48947559	48947559	-
NM_000321.3(RB1):c.1148A>G (p.Gln383Arg)	5925	RB1	Uncertain significance	2138131004	RCV001890800;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947561	48947561	48947561	-
NM_000321.3(RB1):c.1154T>G (p.Leu385Ter)	5925	RB1	Pathogenic	878853947	RCV000226485;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947567	48947567	NC_000013.10:g.48947567T>G	ClinGen:CA10583158	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1156A>G (p.Met386Val)	5925	RB1	Benign/Likely benign	564780653	RCV000570461\|RCV000989116;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947569	48947569	13:g.48947569A>G	ClinGen:CA027706	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1159A>T (p.Met387Leu)	5925	RB1	Uncertain significance	190689977	RCV000532803\|RCV002358464;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947572	48947572	NC_000013.10:g.48947572A>T	ClinGen:CA027719	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1159A>G (p.Met387Val)	5925	RB1	Uncertain significance	190689977	RCV000554391\|RCV002358463;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947572	48947572	13:g.48947572A>G	ClinGen:CA388161499	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1160T>C (p.Met387Thr)	5925	RB1	Uncertain significance	767908749	RCV001234074;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947573	48947573	13:g.48947573T>C	-
NM_000321.3(RB1):c.1163_1168dup (p.Ile388_Leu389dup)	5925	RB1	Uncertain significance	1375214454	RCV001315873;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947574	48947575	48947574	-
NM_000321.3(RB1):c.1166dup (p.Leu389fs)	5925	RB1	Pathogenic	2138131106	RCV001380970;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947575	48947576	48947575	-
NM_000321.3(RB1):c.1162A>C (p.Ile388Leu)	5925	RB1	Uncertain significance	-1	RCV002785499;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947575	48947575	NC_000013.10:g.48947575A>C	-
NM_000321.3(RB1):c.1162A>G (p.Ile388Val)	5925	RB1	Uncertain significance	-1	RCV002801826;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947575	48947575	NC_000013.10:g.48947575A>G	-
NM_000321.3(RB1):c.1163T>C (p.Ile388Thr)	5925	RB1	Uncertain significance	373623059	RCV000701961;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947576	48947576	13:g.48947576T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1163T>G (p.Ile388Ser)	5925	RB1	Conflicting interpretations of pathogenicity	373623059	RCV000823567\|RCV002319924\|RCV003128716\|RCV003467519;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:15798	13	48947576	48947576	13:g.48947576T>G	-
NM_000321.3(RB1):c.1166T>A (p.Leu389Ter)	5925	RB1	Pathogenic	587778845	RCV000114723;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947579	48947579	13:g.48947579T>A	ClinGen:CA026365	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1167A>C (p.Leu389Phe)	5925	RB1	Uncertain significance	1952784310	RCV001927984\|RCV002331441;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947580	48947580	48947580	-
NM_000321.3(RB1):c.1172C>T (p.Ser391Leu)	5925	RB1	Uncertain significance	2138131143	RCV001907321;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947585	48947585	48947585	-
NM_000321.3(RB1):c.1174G>A (p.Ala392Thr)	5925	RB1	Uncertain significance	181988132	RCV000543132\|RCV001010134\|RCV002506302\|RCV003470731;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0030357,MONDO:MONDO:0008433,MeSH:D055752,MedGen:C0	13	48947587	48947587	NC_000013.10:g.48947587G>A	ClinGen:CA027764	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1178G>A (p.Ser393Asn)	5925	RB1	Uncertain significance	-1	RCV002633335;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947591	48947591	NC_000013.10:g.48947591G>A	-
NM_000321.3(RB1):c.1180G>A (p.Asp394Asn)	5925	RB1	Uncertain significance	753350745	RCV000492333\|RCV000691694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947593	48947593	NC_000013.10:g.48947593G>A	ClinGen:CA027779	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1183C>T (p.Gln395Ter)	5925	RB1	Pathogenic	1566196458	RCV000697663\|RCV003332236;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48947596	48947596	NC_000013.10:g.48947596C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1189T>G (p.Ser397Ala)	5925	RB1	Uncertain significance	-1	RCV003057908\|RCV003170943;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947602	48947602	NC_000013.10:g.48947602T>G	-
NM_000321.3(RB1):c.1190C>A (p.Ser397Ter)	5925	RB1	Pathogenic	-1	RCV003062584;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947603	48947603	NC_000013.10:g.48947603C>A	-
NM_000321.3(RB1):c.1191del (p.Glu398fs)	5925	RB1	Pathogenic	727504121	RCV000174238\|RCV001850106;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947604	48947604	13:g.48947604_48947604del	ClinGen:CA026366	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1195A>G (p.Asn399Asp)	5925	RB1	Uncertain significance	2138131269	RCV001966824\|RCV002334990;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947608	48947608	48947608	-
NM_000321.3(RB1):c.1198C>G (p.Leu400Val)	5925	RB1	Conflicting interpretations of pathogenicity	535576919	RCV000632945\|RCV001010249\|RCV002307568;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48947611	48947611	NC_000013.10:g.48947611C>G	ClinGen:CA388161643	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1198C>T (p.Leu400=)	5925	RB1	Likely benign	535576919	RCV002158651;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947611	48947611	48947611	-
NM_000321.3(RB1):c.1199T>C (p.Leu400Pro)	5925	RB1	Likely pathogenic	2138131298	RCV001378940;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947612	48947612	48947612	-
NM_000321.3(RB1):c.1204T>C (p.Ser402Pro)	5925	RB1	Uncertain significance	-1	RCV002814490;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947617	48947617	NC_000013.10:g.48947617T>C	-
NM_000321.3(RB1):c.1205C>G (p.Ser402Cys)	5925	RB1	Uncertain significance	2138131310	RCV001361228;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947618	48947618	48947618	-
NM_000321.3(RB1):c.1205C>T (p.Ser402Phe)	5925	RB1	Uncertain significance	2138131310	RCV001978087\|RCV002344154;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947618	48947618	48947618	-
NM_000321.3(RB1):c.1206C>T (p.Ser402=)	5925	RB1	Conflicting interpretations of pathogenicity	752679968	RCV001523806\|RCV003166626;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947619	48947619	48947619	-
NM_000321.3(RB1):c.1206C>A (p.Ser402=)	5925	RB1	Likely benign	752679968	RCV001423605\|RCV002350825;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947619	48947619	48947619	-
NM_000321.3(RB1):c.1206C>G (p.Ser402=)	5925	RB1	Likely benign	752679968	RCV001500616\|RCV003298895;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947619	48947619	48947619	-
NM_000321.3(RB1):c.1207T>A (p.Tyr403Asn)	5925	RB1	Uncertain significance	2138131325	RCV002025715;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947620	48947620	48947620	-
NM_000321.3(RB1):c.1208A>G (p.Tyr403Cys)	5925	RB1	Uncertain significance	-1	RCV003076504\|RCV003171031;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947621	48947621	NC_000013.10:g.48947621A>G	-
NM_000321.3(RB1):c.1215C>T (p.Asn405=)	5925	RB1	Likely benign	758187955	RCV000632923\|RCV001010330;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947628	48947628	13:g.48947628C>T	ClinGen:CA027862	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1215+1G>A	5925	RB1	Conflicting interpretations of pathogenicity	587776783	RCV000114724\|RCV000492136\|RCV000763334\|RCV003460796;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980; MONDO:MONDO:00	13	48947629	48947629	13:g.48947629G>A	ClinGen:CA026367,OMIM:614041.0011	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1215+2T>G	5925	RB1	Pathogenic	1060503074	RCV000469761\|RCV002356696;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947630	48947630	NC_000013.10:g.48947630T>G	ClinGen:CA16614303	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1215+2T>C	5925	RB1	Pathogenic	1060503074	RCV001257129;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947630	48947630	13:g.48947630T>C	-
NM_000321.3(RB1):c.1215+3A>G	5925	RB1	Conflicting interpretations of pathogenicity	1254191370	RCV000632967\|RCV002358772;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48947631	48947631	NC_000013.10:g.48947631A>G	ClinGen:CA609576776	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1215+7C>T	5925	RB1	Likely benign	1952785055	RCV002186543;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947635	48947635	48947635	-
NM_000321.3(RB1):c.1215+8A>G	5925	RB1	Likely benign	2138131392	RCV002217406;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947636	48947636	48947636	-
NM_000321.3(RB1):c.1215+9T>C	5925	RB1	Likely benign	2138131396	RCV002194727;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947637	48947637	48947637	-
NM_000321.3(RB1):c.1215+10A>G	5925	RB1	Uncertain significance	746116477	RCV000798717;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947638	48947638	13:g.48947638A>G	-
NM_000321.3(RB1):c.1215+12A>G	5925	RB1	Likely benign	145725575	RCV002193449;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947640	48947640	48947640	-
NM_000321.3(RB1):c.1215+15A>G	5925	RB1	Likely benign	1367804076	RCV002196864;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947643	48947643	48947643	-
NM_000321.3(RB1):c.1215+17A>G	5925	RB1	Likely benign	1214049993	RCV002148858;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947645	48947645	48947645	-
NM_000321.3(RB1):c.1215+25_1215+28del	5925	RB1	Likely benign	937437635	RCV002115507;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48947648	48947651	48947647	-
NM_000321.3(RB1):c.1216-29A>G	5925	RB1	Benign/Likely benign	3092886	RCV000223982\|RCV000250362\|RCV001512539\|RCV002256129;	N	MedGen:C3661900\|MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951025	48951025	13:g.48951025A>G	ClinGen:CA027882	CN517202 not provided;
NM_000321.3(RB1):c.1216-17_1216-16delinsTG	5925	RB1	Uncertain significance	-1	RCV002637144;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951037	48951038	NC_000013.10:g.48951037_48951038delinsTG	-
NM_000321.3(RB1):c.1216-11A>C	5925	RB1	Likely benign	986173926	RCV002219304;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951043	48951043	48951043	-
NM_000321.3(RB1):c.1216-11A>G	5925	RB1	Likely benign	-1	RCV002863134;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951043	48951043	NC_000013.10:g.48951043A>G	-
NM_000321.3(RB1):c.1216-10C>T	5925	RB1	Likely benign	1060504823	RCV001480845;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951044	48951044	NC_000013.10:g.48951044C>T	ClinGen:CA16614040	C0035335 180200 Retinoblastoma;
NC_000013.11:g.(?_48376908)_(48380094_?)del	5925	RB1	Pathogenic	-1	RCV000805898;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951044	48954230		-
NC_000013.10:g.(?_48951044)_(48955589_?)del	5925	RB1	Pathogenic	-1	RCV003111010;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951044	48955589		-
NM_000321.3(RB1):c.1216-9C>T	5925	RB1	Likely benign	1593453956	RCV000931958;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951045	48951045	13:g.48951045C>T	-
NM_000321.3(RB1):c.1216-9C>G	5925	RB1	Likely benign	1593453956	RCV001977018;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951045	48951045	48951045	-
NM_000321.3(RB1):c.1216-9C>A	5925	RB1	Likely benign	1593453956	RCV001969818;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951045	48951045	48951045	-
NM_000321.3(RB1):c.1216-8T>C	5925	RB1	Likely benign	1218088810	RCV001481945;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951046	48951046	48951046	-
NM_000321.3(RB1):c.1216-7C>T	5925	RB1	Likely benign	563642809	RCV002103183;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951047	48951047	48951047	-
NM_000321.3(RB1):c.1216-6C>T	5925	RB1	Likely benign	1453083586	RCV000632973;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951048	48951048	NC_000013.10:g.48951048C>T	ClinGen:CA609577332	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1216-4A>G	5925	RB1	Likely benign	763895695	RCV001435464\|RCV002354807;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951050	48951050	13:g.48951050A>G	-
NM_000321.3(RB1):c.1216-2A>G	5925	RB1	Pathogenic	1593453973	RCV000989117;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951052	48951052	13:g.48951052A>G	-
NM_000321.3(RB1):c.1216-1G>A	5925	RB1	Pathogenic	587778831	RCV000114725;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951053	48951053	13:g.48951053G>A	ClinGen:CA026368	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1218C>T (p.Asn406=)	5925	RB1	Likely benign	1593453983	RCV000840987\|RCV001397131\|RCV003169071;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951056	48951056	13:g.48951056C>T	-
NM_000321.3(RB1):c.1218C>G (p.Asn406Lys)	5925	RB1	Uncertain significance	-1	RCV002988606;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951056	48951056	NC_000013.10:g.48951056C>G	-
NM_000321.3(RB1):c.1221C>T (p.Cys407=)	5925	RB1	Likely benign	756329704	RCV001448511\|RCV002359004;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951059	48951059	48951059	-
NM_000321.3(RB1):c.1223C>T (p.Thr408Ile)	5925	RB1	Uncertain significance	1462238834	RCV000796634\|RCV002360926;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951061	48951061	13:g.48951061C>T	-
NM_000321.3(RB1):c.1224A>G (p.Thr408=)	5925	RB1	Likely benign	371805499	RCV000878560\|RCV001010414;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951062	48951062	13:g.48951062A>G	-
NM_000321.3(RB1):c.1224A>C (p.Thr408=)	5925	RB1	Likely benign	371805499	RCV000945476\|RCV003169449;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951062	48951062	13:g.48951062A>C	-
NM_000321.3(RB1):c.1225G>A (p.Val409Met)	5925	RB1	Uncertain significance	1952830946	RCV001206402\|RCV002365932;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951063	48951063	13:g.48951063G>A	-
NM_000321.3(RB1):c.1229A>C (p.Asn410Thr)	5925	RB1	Uncertain significance	1952831003	RCV001230002\|RCV002366030;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951067	48951067	13:g.48951067A>C	-
NM_000321.3(RB1):c.1230T>A (p.Asn410Lys)	5925	RB1	Uncertain significance	-1	RCV002646675;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951068	48951068	NC_000013.10:g.48951068T>A	-
NM_000321.3(RB1):c.1231C>A (p.Pro411Thr)	5925	RB1	Uncertain significance	2138136242	RCV001903325;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951069	48951069	48951069	-
NM_000321.3(RB1):c.1233A>G (p.Pro411=)	5925	RB1	Likely benign	754078025	RCV001411019\|RCV002368286;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951071	48951071	48951071	-
NM_000321.3(RB1):c.1234A>G (p.Lys412Glu)	5925	RB1	Uncertain significance	-1	RCV003034356;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951072	48951072	NC_000013.10:g.48951072A>G	-
NM_000321.3(RB1):c.1236A>C (p.Lys412Asn)	5925	RB1	Uncertain significance	-1	RCV002295175;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951074	48951074	48951074	-
NM_000321.3(RB1):c.1237G>T (p.Glu413Ter)	5925	RB1	Pathogenic	2138136261	RCV001380999;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951075	48951075	48951075	-
NM_000321.3(RB1):c.1239_1240del (p.Ser414fs)	5925	RB1	Pathogenic	1555286220	RCV000632938;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951076	48951077	NC_000013.10:g.48951077_48951078del	ClinGen:CA658798142	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1238A>C (p.Glu413Ala)	5925	RB1	Uncertain significance	1462517568	RCV001997715;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951076	48951076	48951076	-
NM_000321.3(RB1):c.1239A>G (p.Glu413=)	5925	RB1	Likely benign	2138136281	RCV002215824;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951077	48951077	48951077	-
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg)	5925	RB1	Conflicting interpretations of pathogenicity	974956317	RCV001010519\|RCV001043640;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951078	48951078	13:g.48951078A>C	-
NM_000321.3(RB1):c.1241G>A (p.Ser414Asn)	5925	RB1	Uncertain significance	1952831176	RCV001305564;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951079	48951079	48951079	-
NM_000321.3(RB1):c.1243A>G (p.Ile415Val)	5925	RB1	Uncertain significance	1346693507	RCV000697691;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951081	48951081	13:g.48951081A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1243A>C (p.Ile415Leu)	5925	RB1	Conflicting interpretations of pathogenicity	1346693507	RCV001883608\|RCV002386647;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951081	48951081	48951081	-
NM_000321.3(RB1):c.1247del (p.Leu416fs)	5925	RB1	Pathogenic	2138136325	RCV002000209;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951085	48951085	48951084	-
NM_000321.3(RB1):c.1250A>G (p.Lys417Arg)	5925	RB1	Uncertain significance	-1	RCV003036749;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951088	48951088	NC_000013.10:g.48951088A>G	-
NM_000321.3(RB1):c.1251A>G (p.Lys417=)	5925	RB1	Likely benign	-1	RCV002598620;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951089	48951089		-
NM_000321.3(RB1):c.1253G>A (p.Arg418Lys)	5925	RB1	Uncertain significance	1952831579	RCV001305506\|RCV002418926;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951091	48951091	48951091	-
NM_000321.3(RB1):c.1257del (p.Lys420fs)	5925	RB1	Pathogenic	1952831606	RCV001038726;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951095	48951095	13:g.48951095_48951095del	-
NM_000321.3(RB1):c.1258A>G (p.Lys420Glu)	5925	RB1	Uncertain significance	-1	RCV002421479\|RCV003103479;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951096	48951096	48951096	-
NM_000321.3(RB1):c.1259A>G (p.Lys420Arg)	5925	RB1	Uncertain significance	2138136389	RCV001368312;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951097	48951097	48951097	-
NM_000321.3(RB1):c.1278_1279insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGGGCCGGCGGAAGAAGGCGGTGGCGGGGCCCTG	5925	RB1	Pathogenic	-1	RCV002876067;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951103	48951104	NC_000013.10:g.48951116_48951117insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGCGGCGGGGCCGGCGGAAGAAGGCGGTGGCGGGGCCCTGCCCCGCTCCGGCTGTGGCGCGGCCCGCGCCCGTTCCAGGATACATC	-
NM_000321.3(RB1):c.1266A>G (p.Ile422Met)	5925	RB1	Uncertain significance	-1	RCV003078329;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951104	48951104	NC_000013.10:g.48951104A>G	-
NM_000321.3(RB1):c.1267G>A (p.Gly423Arg)	5925	RB1	Uncertain significance	2138136425	RCV001903907;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951105	48951105	48951105	-
NM_000321.3(RB1):c.1268G>A (p.Gly423Glu)	5925	RB1	Conflicting interpretations of pathogenicity	748635133	RCV000480107\|RCV000531874\|RCV001010666;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951106	48951106	13:g.48951106G>A	ClinGen:CA028058	CN169374 not specified;
NM_000321.3(RB1):c.1272C>T (p.Tyr424=)	5925	RB1	Likely benign	2138136448	RCV002151386;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951110	48951110	48951110	-
NM_000321.3(RB1):c.1275_1279dup (p.Lys427fs)	5925	RB1	Pathogenic	1952831740	RCV001061444;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951112	48951113	13:g.48951112_48951113insCTTTA	-
NM_000321.3(RB1):c.1274T>A (p.Ile425Asn)	5925	RB1	Uncertain significance	1464633359	RCV001890961;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951112	48951112	48951112	-
NM_000321.3(RB1):c.1278dup (p.Lys427Ter)	5925	RB1	Pathogenic	1555286236	RCV000539506;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951113	48951114	13:g.48951113_48951114insT	ClinGen:CA658656361	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1275C>G (p.Ile425Met)	5925	RB1	Uncertain significance	-1	RCV002611829\|RCV003294557;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951113	48951113	NC_000013.10:g.48951113C>G	-
NM_000321.3(RB1):c.1281del (p.Glu428fs)	5925	RB1	Pathogenic	2138136497	RCV001383898;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951117	48951117	48951116	-
NM_000321.3(RB1):c.1283A>G (p.Glu428Gly)	5925	RB1	Uncertain significance	1952831856	RCV001065656;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951121	48951121	13:g.48951121A>G	-
NM_000321.3(RB1):c.1284G>A (p.Glu428=)	5925	RB1	Likely benign	2138136532	RCV001395674\|RCV002384561;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951122	48951122	48951122	-
NM_000321.3(RB1):c.1287A>C (p.Lys429Asn)	5925	RB1	Uncertain significance	-1	RCV002305325;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951125	48951125	48951125	-
NM_000321.3(RB1):c.1290T>C (p.Phe430=)	5925	RB1	Likely benign	1593454066	RCV001398923;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951128	48951128	13:g.48951128T>C	-
NM_000321.3(RB1):c.1291G>A (p.Ala431Thr)	5925	RB1	Uncertain significance	965729205	RCV000802344;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951129	48951129	13:g.48951129G>A	-
NM_000321.3(RB1):c.1294A>T (p.Lys432Ter)	5925	RB1	Pathogenic	1566197747	RCV000722030;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951132	48951132	NC_000013.10:g.48951132A>T	-
NM_000321.3(RB1):c.1297G>A (p.Ala433Thr)	5925	RB1	Uncertain significance	1166566395	RCV000702115\|RCV002386253;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951135	48951135	13:g.48951135G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1306C>A (p.Gln436Lys)	5925	RB1	Benign/Likely benign	4151534	RCV000229330\|RCV000492701;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951144	48951144	13:g.48951144C>A	ClinGen:CA028112,UniProtKB:P06400#VAR_019379	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1308G>A (p.Gln436=)	5925	RB1	Likely benign	1191053171	RCV001419191;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951146	48951146	48951146	-
NM_000321.3(RB1):c.1310G>T (p.Gly437Val)	5925	RB1	Uncertain significance	1952832211	RCV001901445;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951148	48951148	48951148	-
NM_000321.3(RB1):c.1311T>C (p.Gly437=)	5925	RB1	Likely benign	759207520	RCV001430939\|RCV002384645;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951149	48951149	48951149	-
NM_000321.3(RB1):c.1313G>A (p.Cys438Tyr)	5925	RB1	Uncertain significance	1952832267	RCV001203708\|RCV002379771;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951151	48951151	13:g.48951151G>A	-
NM_000321.3(RB1):c.1313G>T (p.Cys438Phe)	5925	RB1	Uncertain significance	1952832267	RCV001295165;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951151	48951151	48951151	-
NM_000321.3(RB1):c.1317C>T (p.Val439=)	5925	RB1	Likely benign	1952832303	RCV001407427\|RCV002384595;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951155	48951155	48951155	-
NM_000321.3(RB1):c.1317C>G (p.Val439=)	5925	RB1	Likely benign	1952832303	RCV002169385;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951155	48951155	48951155	-
NM_000321.3(RB1):c.1317C>A (p.Val439=)	5925	RB1	Likely benign	1952832303	RCV002078741;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951155	48951155	48951155	-
NM_000321.3(RB1):c.1318G>A (p.Glu440Lys)	5925	RB1	Conflicting interpretations of pathogenicity	1060503078	RCV000466200\|RCV000492148\|RCV003470478;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48951156	48951156	NC_000013.10:g.48951156G>A	ClinGen:CA16614305	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1323T>C (p.Ile441=)	5925	RB1	Likely benign	1952832419	RCV001416624\|RCV002384614;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951161	48951161	48951161	-
NM_000321.3(RB1):c.1325G>C (p.Gly442Ala)	5925	RB1	Uncertain significance	1370947947	RCV000691816\|RCV001011037\|RCV003238180;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48951163	48951163	13:g.48951163G>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1328C>A (p.Ser443Ter)	5925	RB1	Pathogenic	1060503079	RCV000471628\|RCV000492335;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48951166	48951166	NC_000013.10:g.48951166C>A	ClinGen:CA16614041	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1331_1332dup (p.Arg445fs)	5925	RB1	Pathogenic	1593454115	RCV000820318;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951168	48951169	13:g.48951168_48951169insAG	-
NM_000321.3(RB1):c.1330C>A (p.Gln444Lys)	5925	RB1	Uncertain significance	-1	RCV003083191;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951168	48951168	NC_000013.10:g.48951168C>A	-
NM_000321.3(RB1):c.1331A>C (p.Gln444Pro)	5925	RB1	Likely pathogenic	2138136810	RCV001374400;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951169	48951169	48951169	-
NM_000321.3(RB1):c.1332G>C (p.Gln444His)	5925	RB1	Pathogenic	1555286250	RCV000632946;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951170	48951170	NC_000013.10:g.48951170G>C	ClinGen:CA388162194	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1332G>A (p.Gln444=)	5925	RB1	Pathogenic	1555286250	RCV001383900;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951170	48951170	48951170	-
NM_000321.3(RB1):c.1332+1G>A	5925	RB1	Pathogenic	587778846	RCV000114726\|RCV001731377;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	48951171	48951171	13:g.48951171G>A	ClinGen:CA026369	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1332+1G>T	5925	RB1	Pathogenic	587778846	RCV000114727;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951171	48951171	13:g.48951171G>T	ClinGen:CA026370	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1332+3A>T	5925	RB1	Uncertain significance	1952832685	RCV001036639;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951173	48951173	13:g.48951173A>T	-
NM_000321.3(RB1):c.1332+4A>G	5925	RB1	Uncertain significance	2138136847	RCV002254848;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951174	48951174	48951174	-
NM_000321.3(RB1):c.1332+11T>A	5925	RB1	Likely benign	769231663	RCV002083062;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951181	48951181	48951181	-
NM_000321.3(RB1):c.1332+14A>G	5925	RB1	Likely benign	775013695	RCV002105598;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951184	48951184	48951184	-
NM_000321.3(RB1):c.1332+15T>C	5925	RB1	Likely benign	762809210	RCV001109795;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48951185	48951185	13:g.48951185T>C	-
NC_000013.11:g.(?_48379574)_(48480071_?)del	5925	RB1	Pathogenic	-1	RCV001033014;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953710	49054207	-1	-
NM_000321.3(RB1):c.1333-18dup	5925	RB1	Likely benign	-1	RCV002863594;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953711	48953712	NC_000013.10:g.48953712dup	-
NM_000321.3(RB1):c.1333-17T>A	5925	RB1	Likely benign	-1	RCV002927156;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953713	48953713	NC_000013.10:g.48953713T>A	-
NM_000321.3(RB1):c.1333-16T>C	5925	RB1	Likely benign	1473909228	RCV002214905;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953714	48953714	48953714	-
NM_000321.3(RB1):c.1333-15TTTG[2]	5925	RB1	Likely benign	1201326799	RCV002176954;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953715	48953718	48953714	-
NM_000321.3(RB1):c.1333-13T>C	5925	RB1	Likely benign	2138140684	RCV002209758;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953717	48953717	48953717	-
NM_000321.3(RB1):c.1333-13T>A	5925	RB1	Uncertain significance	-1	RCV002466959;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953717	48953717	NC_000013.10:g.48953717T>A	-
NM_000321.3(RB1):c.1333-9dup	5925	RB1	Conflicting interpretations of pathogenicity	766968771	RCV000281082\|RCV002256199;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953718	48953719	13:g.48953718_48953719insT	ClinGen:CA028181	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1333-7T>C	5925	RB1	Likely benign	1948513668	RCV002180965;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953723	48953723	48953723	-
NC_000013.10:g.(?_48953724)_(48955585_?)del	5925	RB1	Likely pathogenic	-1	RCV001379253;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953724	48955585	-1	-
NM_000321.3(RB1):c.1333-2A>G	5925	RB1	Pathogenic	1555286503	RCV000543344;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953728	48953728	13:g.48953728A>G	ClinGen:CA388162526	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1333-1G>A	5925	RB1	Pathogenic	2138140730	RCV001523795\|RCV002379981;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953729	48953729	48953729	-
NM_000321.3(RB1):c.1333-1G>C	5925	RB1	Pathogenic	2138140730	RCV001905470;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953729	48953729	48953729	-
NM_000321.3(RB1):c.1333C>T (p.Arg445Ter)	5925	RB1	Pathogenic	3092891	RCV000013946\|RCV000492544\|RCV002496351\|RCV002508188;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0	13	48953730	48953730	13:g.48953730C>T	ClinGen:CA026371,OMIM:614041.0003	C0027672 Hereditary cancer-predisposing syndrome;
NC_000013.11:g.(?_48379594)_(48381443_?)del	5925	RB1	Likely pathogenic	-1	RCV000475988;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953730	48955579		-	C0035335 180200 Retinoblastoma;
NC_000013.10:g.(?_48953730)_(48954377_?)del	5925	RB1	Pathogenic	-1	RCV003111011;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953730	48954377		-
NM_000321.3(RB1):c.1334G>A (p.Arg445Gln)	5925	RB1	Uncertain significance	747509282	RCV001236052\|RCV002379900;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953731	48953731	13:g.48953731G>A	-
NM_000321.3(RB1):c.1335A>T (p.Arg445=)	5925	RB1	Likely benign	757748029	RCV001422989\|RCV002384627;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953732	48953732	48953732	-
NM_000321.3(RB1):c.1336T>C (p.Tyr446His)	5925	RB1	Uncertain significance	1948513840	RCV001047936;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953733	48953733	13:g.48953733T>C	-
NM_000321.3(RB1):c.1338C>A (p.Tyr446Ter)	5925	RB1	Pathogenic	1593455621	RCV001011110\|RCV001811622\|RCV001788396;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953735	48953735	13:g.48953735C>A	-
NM_000321.3(RB1):c.1346dup (p.Val450fs)	5925	RB1	Pathogenic	1948513922	RCV001053080;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953741	48953742	13:g.48953741_48953742insG	-
NM_000321.3(RB1):c.1345G>A (p.Gly449Arg)	5925	RB1	Pathogenic	1131690851	RCV000492212\|RCV000698759;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953742	48953742	13:g.48953742G>A	ClinGen:CA388162556	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1346G>T (p.Gly449Val)	5925	RB1	Pathogenic	587778847	RCV000114728;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953743	48953743	13:g.48953743G>T	ClinGen:CA026372	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1351C>T (p.Arg451Cys)	5925	RB1	Conflicting interpretations of pathogenicity	759079385	RCV000697674\|RCV002386221;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953748	48953748	13:g.48953748C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1351C>G (p.Arg451Gly)	5925	RB1	Uncertain significance	-1	RCV002614511;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953748	48953748	NC_000013.10:g.48953748C>G	-
NM_000321.3(RB1):c.1351C>A (p.Arg451Ser)	5925	RB1	Uncertain significance	-1	RCV002797082;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953748	48953748	NC_000013.10:g.48953748C>A	-
NM_000321.3(RB1):c.1352G>A (p.Arg451His)	5925	RB1	Uncertain significance	1312442837	RCV000695279\|RCV001011087;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953749	48953749	13:g.48953749G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1353C>T (p.Arg451=)	5925	RB1	Likely benign	912889209	RCV003161369\|RCV002186817;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953750	48953750	48953750	-
NM_000321.3(RB1):c.1355dup (p.Leu452fs)	5925	RB1	Pathogenic	-1	RCV003043986;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953750	48953751	NC_000013.10:g.48953752dup	-
NM_000321.3(RB1):c.1355T>G (p.Leu452Trp)	5925	RB1	Uncertain significance	2138140900	RCV001372705\|RCV003169918;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953752	48953752	48953752	-
NM_000321.3(RB1):c.1355T>A (p.Leu452Ter)	5925	RB1	Pathogenic	-1	RCV003058414;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953752	48953752	NC_000013.10:g.48953752T>A	-
NM_000321.3(RB1):c.1356G>T (p.Leu452Phe)	5925	RB1	Uncertain significance	201285819	RCV000699994\|RCV002386237;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953753	48953753	13:g.48953753G>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1356G>A (p.Leu452=)	5925	RB1	Likely benign	201285819	RCV001397073\|RCV003169969;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953753	48953753	48953753	-
NM_000321.3(RB1):c.1360del (p.Tyr454fs)	5925	RB1	Pathogenic	2138140923	RCV001918957;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953756	48953756	48953755	-
NM_000321.3(RB1):c.1360_1363delinsGGAATCCATG (p.Tyr454_Arg455delinsGlyIleHisGly)	5925	RB1	Uncertain significance	-1	RCV002914665;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953757	48953760	NC_000013.10:g.48953757_48953760delinsGGAATCCATG	-
NM_000321.3(RB1):c.1361A>G (p.Tyr454Cys)	5925	RB1	Uncertain significance	1281607292	RCV001368549;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953758	48953758	48953758	-
NM_000321.3(RB1):c.1362C>G (p.Tyr454Ter)	5925	RB1	Pathogenic/Likely pathogenic	-1	RCV002383517\|RCV003138241;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953759	48953759	48953759	-
NM_000321.3(RB1):c.1363C>T (p.Arg455Ter)	5925	RB1	Pathogenic	121913302	RCV000114729\|RCV000492246\|RCV000486601\|RCV003156072\|RCV003332117;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:1579	13	48953760	48953760	13:g.48953760C>T	ClinGen:CA026373	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1364G>A (p.Arg455Gln)	5925	RB1	Uncertain significance	769425649	RCV000699837\|RCV002386234\|RCV003465611;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48953761	48953761	13:g.48953761G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1365A>G (p.Arg455=)	5925	RB1	Likely benign	1316896547	RCV001428239\|RCV002384066;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953762	48953762	NC_000013.10:g.48953762A>G	ClinGen:CA483559226	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1368A>C (p.Val456=)	5925	RB1	Likely benign	-1	RCV002811773;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953765	48953765		-
NM_000321.3(RB1):c.1371G>A (p.Met457Ile)	5925	RB1	Uncertain significance	1948514269	RCV001054844\|RCV002379562;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953768	48953768	13:g.48953768G>A	-
NM_000321.3(RB1):c.1373A>C (p.Glu458Ala)	5925	RB1	Uncertain significance	1948514334	RCV001066968;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953770	48953770	13:g.48953770A>C	-
NM_000321.3(RB1):c.1376C>T (p.Ser459Phe)	5925	RB1	Uncertain significance	1593455667	RCV000822868\|RCV001011230\|RCV002487851;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500, Orphanet:668; Human Phenotype O	13	48953773	48953773	13:g.48953773C>T	-
NM_000321.3(RB1):c.1378A>G (p.Met460Val)	5925	RB1	Uncertain significance	1258210045	RCV000794747\|RCV002386391;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48953775	48953775	13:g.48953775A>G	-
NM_000321.3(RB1):c.1380G>A (p.Met460Ile)	5925	RB1	Uncertain significance	1948514475	RCV001235023;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953777	48953777	13:g.48953777G>A	-
NM_000321.3(RB1):c.1389+1G>T	5925	RB1	Pathogenic	1060503087	RCV000462245;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953787	48953787	NC_000013.10:g.48953787G>T	ClinGen:CA16614310	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1389+1G>C	5925	RB1	Pathogenic	1060503087	RCV000804002;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953787	48953787	13:g.48953787G>C	-
NM_000321.3(RB1):c.1389+5G>C	5925	RB1	Likely pathogenic	1131690859	RCV000786845\|RCV002466580;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953791	48953791	13:g.48953791G>C	-
NM_000321.3(RB1):c.1389+6T>G	5925	RB1	Uncertain significance	2138141082	RCV002272579;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953792	48953792	48953792	-
NM_000321.3(RB1):c.1389+8A>G	5925	RB1	Likely benign	2138141087	RCV002111917;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953794	48953794	48953794	-
NM_000321.3(RB1):c.1389+11A>C	5925	RB1	Likely benign	2138141097	RCV002145053;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953797	48953797	48953797	-
NM_000321.3(RB1):c.1389+15A>G	5925	RB1	Likely benign	1211181689	RCV002146138;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953801	48953801	48953801	-
NM_000321.3(RB1):c.1389+16T>C	5925	RB1	Likely benign	-1	RCV002647458;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953802	48953802	NC_000013.10:g.48953802T>C	-
NM_000321.3(RB1):c.1389+18T>C	5925	RB1	Likely benign	768140640	RCV002122515;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953804	48953804	48953804	-
NM_000321.3(RB1):c.1389+19A>T	5925	RB1	Likely benign	-1	RCV002593440;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48953805	48953805	NC_000013.10:g.48953805A>T	-
NM_000321.3(RB1):c.1390-14A>T	5925	RB1	Benign	9535023	RCV000153810\|RCV000317424\|RCV000586146\|RCV002255307;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954175	48954175	13:g.48954175A>T	ClinGen:CA026374	CN517202 not provided;
NM_000321.3(RB1):c.1390-14A>G	5925	RB1	Pathogenic	9535023	RCV000465314;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954175	48954175	NC_000013.10:g.48954175A>G	ClinGen:CA16614313	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1390-11A>G	5925	RB1	Conflicting interpretations of pathogenicity	200658795	RCV000242334\|RCV000372212\|RCV001705333\|RCV002392760;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954178	48954178	NC_000013.10:g.48954178A>G	ClinGen:CA028530	CN169374 not specified;
NM_000321.3(RB1):c.1390-10T>C	5925	RB1	Likely benign	1323914179	RCV001372938;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954179	48954179	48954179	-
NM_000321.3(RB1):c.1390-9C>G	5925	RB1	Likely benign	150700378	RCV000632983;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954180	48954180	NC_000013.10:g.48954180C>G	ClinGen:CA658798143	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1390-7G>C	5925	RB1	Likely benign	1257995008	RCV002085273;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954182	48954182	48954182	-
NM_000321.3(RB1):c.1390-4T>A	5925	RB1	Likely benign	-1	RCV002881827;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954185	48954185	NC_000013.10:g.48954185T>A	-
NM_000321.3(RB1):c.1390-2A>G	5925	RB1	Pathogenic/Likely pathogenic	1555286568	RCV000590064\|RCV000632925;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954187	48954187	NC_000013.10:g.48954187A>G	ClinGen:CA388162661	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1390-2A>C	5925	RB1	Pathogenic	1555286568	RCV000689697;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954187	48954187	13:g.48954187A>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1390_1392GAA[2] (p.Glu466del)	5925	RB1	Uncertain significance	1948519753	RCV002014975\|RCV002388973;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954189	48954191	48954188	-
NC_000013.10:g.(?_48954189)_(48954377_?)del	5925	RB1	Pathogenic	-1	RCV003111012;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954189	48954377		-
NM_000321.3(RB1):c.1392del (p.Glu465fs)	5925	RB1	Pathogenic	1948519774	RCV001226539;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954190	48954190	13:g.48954190_48954190del	-
NM_000321.3(RB1):c.1395A>G (p.Glu465=)	5925	RB1	Likely benign	-1	RCV002894845;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954194	48954194		-
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter)	5925	RB1	Pathogenic	398123331	RCV000078633\|RCV000114730\|RCV000492734;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954198	48954198	13:g.48954198C>T	ClinGen:CA026376	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly)	5925	RB1	Uncertain significance	398123331	RCV000709347;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954198	48954198	13:g.48954198C>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1399C>A (p.Arg467=)	5925	RB1	Likely benign	398123331	RCV000979769\|RCV002391028;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954198	48954198	13:g.48954198C>A	-
NM_000321.3(RB1):c.1400G>A (p.Arg467Gln)	5925	RB1	Uncertain significance	1948519905	RCV001225314;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954199	48954199	13:g.48954199G>A	-
NM_000321.3(RB1):c.1402T>C (p.Leu468=)	5925	RB1	Likely benign	2138142257	RCV002102656;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954201	48954201	48954201	-
NM_000321.3(RB1):c.1404A>T (p.Leu468Phe)	5925	RB1	Uncertain significance	2138142265	RCV002035577\|RCV002389014;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954203	48954203	48954203	-
NM_000321.3(RB1):c.1406C>T (p.Ser469Phe)	5925	RB1	Uncertain significance	1243796201	RCV000700965\|RCV002388310;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954205	48954205	13:g.48954205C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1406C>A (p.Ser469Tyr)	5925	RB1	Uncertain significance	1243796201	RCV001345146\|RCV002395757;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954205	48954205	48954205	-
NM_000321.3(RB1):c.1407C>T (p.Ser469=)	5925	RB1	Likely benign	-1	RCV002908295;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954206	48954206		-
NM_000321.3(RB1):c.1408A>C (p.Ile470Leu)	5925	RB1	Likely benign	139960834	RCV000808070;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954207	48954207	13:g.48954207A>C	-
NM_000321.3(RB1):c.1408A>T (p.Ile470Phe)	5925	RB1	Uncertain significance	-1	RCV003079169;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954207	48954207	NC_000013.10:g.48954207A>T	-
NM_000321.3(RB1):c.1410T>C (p.Ile470=)	5925	RB1	Benign/Likely benign	578226820	RCV000463040\|RCV000572567;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954209	48954209	NC_000013.10:g.48954209T>C	ClinGen:CA028643	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1410T>G (p.Ile470Met)	5925	RB1	Conflicting interpretations of pathogenicity	578226820	RCV000812984\|RCV002255534\|RCV003461212;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48954209	48954209	13:g.48954209T>G	-
NM_000321.3(RB1):c.1412A>G (p.Gln471Arg)	5925	RB1	Uncertain significance	1948520103	RCV001045257\|RCV002393223;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954211	48954211	13:g.48954211A>G	-
NM_000321.3(RB1):c.1419del (p.Phe473fs)	5925	RB1	Pathogenic/Likely pathogenic	1555286573	RCV000586996\|RCV001237743;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954215	48954215	13:g.48954215_48954215del	ClinGen:CA658683873	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1421_1421+9delinsCTTTTAGTAAAAAATTTACTTTTAGTAAAATTTTACTTTTAGTAAAATTTTAGTAAAAATTTAC	5925	RB1	Pathogenic	-1	RCV002856232;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954220	48954229	NC_000013.10:g.48954220_48954229delinsCTTTTAGTAAAAAATTTACTTTTAGTAAAATTTTACTTTTAGTAAAATTTTAGTAAAAATTTACTTTTAGTAAAAAA	-
NM_000321.3(RB1):c.1421+1G>C	5925	RB1	Pathogenic/Likely pathogenic	1131690886	RCV000492392\|RCV001382143;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954221	48954221	13:g.48954221G>C	ClinGen:CA388162744	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1421+3_1421+7dup	5925	RB1	Likely benign	2138142357	RCV001504016;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954221	48954222	48954221	-
NM_000321.3(RB1):c.1421+12_1421+32del	5925	RB1	Likely pathogenic	587781256	RCV000128456\|RCV000587801;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954223	48954243	13:g.48954223_48954243del	ClinGen:CA269950	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1421+4_1421+29del	5925	RB1	Uncertain significance	2138142387	RCV001905484;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954224	48954249	48954223	-
NM_000321.3(RB1):c.1421+11dup	5925	RB1	Likely benign	1222617235	RCV001447994;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954225	48954226	48954225	-
NM_000321.3(RB1):c.1421+5A>G	5925	RB1	Uncertain significance	-1	RCV002391823\|RCV003095134;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954225	48954225	48954225	-
NM_000321.3(RB1):c.1421+6T>C	5925	RB1	Conflicting interpretations of pathogenicity	768192190	RCV000983803\|RCV002258080;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954226	48954226	13:g.48954226T>C	-
NM_000321.3(RB1):c.1421+7T>G	5925	RB1	Likely benign	2138142405	RCV002084654;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954227	48954227	48954227	-
NM_000321.3(RB1):c.1421+7T>A	5925	RB1	Likely benign	-1	RCV002909789;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954227	48954227	NC_000013.10:g.48954227T>A	-
NM_000321.3(RB1):c.1421+13_1421+18del	5925	RB1	Likely benign	-1	RCV002953158;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954228	48954233	NC_000013.10:g.48954233_48954238del	-
NM_000321.3(RB1):c.1421+9T>C	5925	RB1	Benign/Likely benign	183417081	RCV000232890\|RCV002255321;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954229	48954229	13:g.48954229T>C	ClinGen:CA028750	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1421+12_1456del	5925	RB1	Pathogenic	2138142421	RCV001886991;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954230	48954333	48954229	-
NM_000321.3(RB1):c.1422-16T>C	5925	RB1	Benign	-1	RCV003316908;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954285	48954285		-
NM_000321.3(RB1):c.1422-10T>C	5925	RB1	Likely benign	2138142660	RCV001453493;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954291	48954291	48954291	-
NM_000321.3(RB1):c.1422-9T>C	5925	RB1	Likely benign	-1	RCV003049988;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954292	48954292	NC_000013.10:g.48954292T>C	-
NM_000321.3(RB1):c.1422-8del	5925	RB1	Benign	747048469	RCV000358807\|RCV002059093;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954293	48954293	13:g.48954283_48954283del	ClinGen:CA6978896	CN169374 not specified;
NM_000321.3(RB1):c.1422-7C>T	5925	RB1	Likely benign	1419123438	RCV001400131;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954294	48954294	13:g.48954294C>T	-
NM_000321.3(RB1):c.1422-6del	5925	RB1	Likely benign	1706474256	RCV001438818;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954294	48954294	48954293	-
NM_000321.3(RB1):c.1422-4T>G	5925	RB1	Conflicting interpretations of pathogenicity	201554179	RCV001011513\|RCV001110584;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954297	48954297	13:g.48954297T>G	-
NM_000321.3(RB1):c.1422-2A>G	5925	RB1	Pathogenic	1395304450	RCV001383901;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954299	48954299	48954299	-
NM_000321.3(RB1):c.1422-1G>A	5925	RB1	Pathogenic	1461382798	RCV000632961;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954300	48954300	13:g.48954300G>A	ClinGen:CA388162752	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1423A>T (p.Lys475Ter)	5925	RB1	Pathogenic	-1	RCV002811691;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954302	48954302	NC_000013.10:g.48954302A>T	-
NM_000321.3(RB1):c.1424A>G (p.Lys475Arg)	5925	RB1	Uncertain significance	1593456261	RCV001048082;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954303	48954303	13:g.48954303A>G	-
NM_000321.3(RB1):c.1429C>T (p.Leu477=)	5925	RB1	Likely benign	-1	RCV002392006\|RCV003095147;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954308	48954308		-
NM_000321.3(RB1):c.1434T>C (p.Asn478=)	5925	RB1	Likely benign	2138142781	RCV002074915;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954313	48954313	48954313	-
NM_000321.3(RB1):c.1436ACA[1] (p.Asn480del)	5925	RB1	Pathogenic	587776788	RCV000013967\|RCV000492635;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954315	48954317	13:g.48954315_48954317del	ClinGen:CA026377,OMIM:614041.0023	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1436A>G (p.Asp479Gly)	5925	RB1	Uncertain significance	2138142793	RCV002015453;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954315	48954315	48954315	-
NM_000321.3(RB1):c.1437C>T (p.Asp479=)	5925	RB1	Uncertain significance	-1	RCV003042591;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954316	48954316		-
NM_000321.3(RB1):c.1439A>G (p.Asn480Ser)	5925	RB1	Uncertain significance	1555286598	RCV000632926\|RCV003411501\|RCV003459510;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48954318	48954318	13:g.48954318A>G	ClinGen:CA388162795	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1445_1446del (p.Phe482fs)	5925	RB1	Pathogenic	1566199059	RCV000699038;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954321	48954322	13:g.48954321_48954322del	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1442T>C (p.Ile481Thr)	5925	RB1	Uncertain significance	-1	RCV002802106;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954321	48954321	NC_000013.10:g.48954321T>C	-
NM_000321.3(RB1):c.1443T>G (p.Ile481Met)	5925	RB1	Uncertain significance	1948522676	RCV001231196;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954322	48954322	13:g.48954322T>G	-
NM_000321.3(RB1):c.1450_1451del (p.Met484fs)	5925	RB1	Pathogenic	1948522792	RCV001060697\|RCV002393296;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954327	48954328	13:g.48954327_48954328del	-
NM_000321.3(RB1):c.1448A>T (p.His483Leu)	5925	RB1	Uncertain significance	1948522736	RCV002044933;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954327	48954327	48954327	-
NM_000321.3(RB1):c.1449T>C (p.His483=)	5925	RB1	Likely benign	-1	RCV003085812;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954328	48954328		-
NM_000321.3(RB1):c.1451T>C (p.Met484Thr)	5925	RB1	Uncertain significance	1948522862	RCV001301473\|RCV002393714;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954330	48954330	48954330	-
NM_000321.3(RB1):c.1453T>C (p.Ser485Pro)	5925	RB1	Uncertain significance	1948522903	RCV001053356;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954332	48954332	13:g.48954332T>C	-
NM_000321.3(RB1):c.1454_1457del (p.Ser485fs)	5925	RB1	Pathogenic	1948522929	RCV001050879;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954332	48954335	13:g.48954332_48954335del	-
NM_000321.3(RB1):c.1454C>G (p.Ser485Cys)	5925	RB1	Uncertain significance	1431881254	RCV000798932;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954333	48954333	13:g.48954333C>G	-
NM_000321.3(RB1):c.1456_1457del (p.Leu486fs)	5925	RB1	Pathogenic	587778832	RCV000114731;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954334	48954335	13:g.48954334_48954335del	ClinGen:CA026378	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1455T>C (p.Ser485=)	5925	RB1	Likely benign	-1	RCV002394705\|RCV003095189;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954334	48954334		-
NM_000321.3(RB1):c.1458del (p.Leu486fs)	5925	RB1	Pathogenic	1555286611	RCV000535718;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954337	48954337	13:g.48954337_48954337del	ClinGen:CA658656368	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1459T>C (p.Leu487=)	5925	RB1	Likely benign	1269949158	RCV002209759\|RCV002391189;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954338	48954338	48954338	-
NM_000321.3(RB1):c.1463C>T (p.Ala488Val)	5925	RB1	Likely benign	780248969	RCV000550618\|RCV002395309;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954342	48954342	13:g.48954342C>T	ClinGen:CA028837	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1464G>A (p.Ala488=)	5925	RB1	Likely benign	753520981	RCV000561081\|RCV001398744;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954343	48954343	NC_000013.10:g.48954343G>A	ClinGen:CA028848	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1464G>T (p.Ala488=)	5925	RB1	Likely benign	-1	RCV002396794\|RCV003108075;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954343	48954343		-
NM_000321.3(RB1):c.1465T>G (p.Cys489Gly)	5925	RB1	Uncertain significance	1948523129	RCV001312801\|RCV003294256;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954344	48954344	48954344	-
NM_000321.3(RB1):c.1466G>A (p.Cys489Tyr)	5925	RB1	Conflicting interpretations of pathogenicity	1131690877	RCV000492634\|RCV001042740;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954345	48954345	NC_000013.10:g.48954345G>A	ClinGen:CA388162860	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1467C>T (p.Cys489=)	5925	RB1	Benign/Likely benign	141608408	RCV000472556\|RCV001011535;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954346	48954346	NC_000013.10:g.48954346C>T	ClinGen:CA028858	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1467C>G (p.Cys489Trp)	5925	RB1	Uncertain significance	141608408	RCV001363144;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954346	48954346	48954346	-
NM_000321.3(RB1):c.1468G>A (p.Ala490Thr)	5925	RB1	Conflicting interpretations of pathogenicity	201458896	RCV000462974\|RCV001011725\|RCV001753905\|RCV003153636;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	13	48954347	48954347	NC_000013.10:g.48954347G>A	ClinGen:CA028873	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1468G>T (p.Ala490Ser)	5925	RB1	Uncertain significance	201458896	RCV001210843\|RCV002393480;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954347	48954347	13:g.48954347G>T	-
NM_000321.3(RB1):c.1470T>G (p.Ala490=)	5925	RB1	Likely benign	1213010309	RCV002200274\|RCV002391179;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954349	48954349	48954349	-
NM_000321.3(RB1):c.1472T>C (p.Leu491Pro)	5925	RB1	Uncertain significance	587778848	RCV000114732\|RCV000273920;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	48954351	48954351	13:g.48954351T>C	ClinGen:CA026379	CN169374 not specified;
NM_000321.3(RB1):c.1472T>A (p.Leu491His)	5925	RB1	Uncertain significance	587778848	RCV000695948\|RCV003163199;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954351	48954351	13:g.48954351T>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1474G>A (p.Glu492Lys)	5925	RB1	Uncertain significance	1060503084	RCV000460404\|RCV000492129;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954353	48954353	NC_000013.10:g.48954353G>A	ClinGen:CA16614015	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1483A>T (p.Met495Leu)	5925	RB1	Uncertain significance	-1	RCV002573897;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954362	48954362	NC_000013.10:g.48954362A>T	-
NM_000321.3(RB1):c.1486G>T (p.Ala496Ser)	5925	RB1	Uncertain significance	1366675428	RCV000687998\|RCV002388212;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954365	48954365	13:g.48954365G>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1489A>G (p.Thr497Ala)	5925	RB1	Uncertain significance	776531398	RCV000529022\|RCV003321647;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	48954368	48954368	NC_000013.10:g.48954368A>G	ClinGen:CA028922	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1491A>T (p.Thr497=)	5925	RB1	Benign/Likely benign	150115447	RCV000533670\|RCV001011873\|RCV001696933;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48954370	48954370	13:g.48954370A>T	ClinGen:CA028926	CN169374 not specified;
NM_000321.3(RB1):c.1493_1498+86del	5925	RB1	Pathogenic	2138143170	RCV001894504;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954371	48954462	48954370	-
NM_000321.3(RB1):c.1493A>G (p.Tyr498Cys)	5925	RB1	Uncertain significance	1948523564	RCV001215038\|RCV003163649;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954372	48954372	13:g.48954372A>G	-
NM_000321.3(RB1):c.1494T>C (p.Tyr498=)	5925	RB1	Benign/Likely benign	768929728	RCV000875149\|RCV002390832;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954373	48954373	13:g.48954373T>C	-
NM_000321.3(RB1):c.1494T>G (p.Tyr498Ter)	5925	RB1	Pathogenic	768929728	RCV002002437;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954373	48954373	48954373	-
NM_000321.3(RB1):c.1496G>A (p.Ser499Asn)	5925	RB1	Uncertain significance	774706300	RCV001050300\|RCV002286805\|RCV002393246;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954375	48954375	13:g.48954375G>A	-
NM_000321.3(RB1):c.1497C>T (p.Ser499=)	5925	RB1	Uncertain significance	1593456358	RCV000807159;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954376	48954376	13:g.48954376C>T	-
NM_000321.3(RB1):c.1498+2T>G	5925	RB1	Pathogenic/Likely pathogenic	1948523741	RCV001290127\|RCV002393689;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48954379	48954379	48954379	-
NM_000321.3(RB1):c.1498+4A>T	5925	RB1	Uncertain significance	-1	RCV003062585;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954381	48954381	NC_000013.10:g.48954381A>T	-
NM_000321.3(RB1):c.1498+5G>A	5925	RB1	Pathogenic	1566199125	RCV000693604;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954382	48954382	13:g.48954382G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1498+6T>A	5925	RB1	Uncertain significance	2138143240	RCV002023034;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954383	48954383	48954383	-
NM_000321.3(RB1):c.1498+7T>G	5925	RB1	Likely benign	1421075164	RCV001443126;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954384	48954384	48954384	-
NM_000321.3(RB1):c.1498+9A>T	5925	RB1	Likely benign	2138143250	RCV002077879;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954386	48954386	48954386	-
NM_000321.3(RB1):c.1498+10A>C	5925	RB1	Likely benign	2138143252	RCV001450827;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48954387	48954387	48954387	-
NM_000321.3(RB1):c.1499-10dup	5925	RB1	Benign	148580581	RCV002184966;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955363	48955364	48955363	-
NM_000321.3(RB1):c.1499-10del	5925	RB1	Benign/Likely benign	148580581	RCV000781810\|RCV002061132\|RCV003238211;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48955364	48955364	NC_000013.10:g.48955373del	-
NM_000321.3(RB1):c.1499-19T>A	5925	RB1	Likely benign	1224266949	RCV002164688;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955364	48955364	48955364	-
NM_000321.3(RB1):c.1499-19T>C	5925	RB1	Likely benign	1224266949	RCV002099446;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955364	48955364	48955364	-
NM_000321.3(RB1):c.1499-11_1499-10del	5925	RB1	Likely benign	-1	RCV002842559;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955364	48955365	NC_000013.10:g.48955372_48955373del	-
NM_000321.3(RB1):c.1499-18T>A	5925	RB1	Likely benign	-1	RCV002863379;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955365	48955365	NC_000013.10:g.48955365T>A	-
NM_000321.3(RB1):c.1499-17T>C	5925	RB1	Likely benign	1948532675	RCV002167599;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955366	48955366	48955366	-
NM_000321.3(RB1):c.1499-10T>C	5925	RB1	Likely benign	778605641	RCV001411726;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955373	48955373	48955373	-
NM_000321.3(RB1):c.1499-9C>T	5925	RB1	Likely benign	201020747	RCV001429135;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955374	48955374	NC_000013.10:g.48955374C>T	ClinGen:CA609929338	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1499-8A>T	5925	RB1	Likely benign	1555286676	RCV000548569;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955375	48955375	NC_000013.10:g.48955375A>T	ClinGen:CA609929339	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1499-8A>G	5925	RB1	Likely benign	1555286676	RCV001468499;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955375	48955375	48955375	-
NM_000321.3(RB1):c.1499-7T>C	5925	RB1	Likely benign	1351161278	RCV000632980;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955376	48955376	NC_000013.10:g.48955376T>C	ClinGen:CA609929342	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1499-2A>C	5925	RB1	Pathogenic	1258442224	RCV000707506;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955381	48955381	NC_000013.10:g.48955381A>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1499-1G>T	5925	RB1	Pathogenic	-1	RCV002818981;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955382	48955382	NC_000013.10:g.48955382G>T	-
NM_000321.3(RB1):c.1499G>T (p.Arg500Ile)	5925	RB1	Uncertain significance	1593456939	RCV000804792;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955383	48955383	13:g.48955383G>T	-
NM_000321.3(RB1):c.1500A>C (p.Arg500Ser)	5925	RB1	Uncertain significance	1368944270	RCV001998157;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955384	48955384	48955384	-
NM_000321.3(RB1):c.1502G>A (p.Ser501Asn)	5925	RB1	Uncertain significance	2138144811	RCV001926490;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955386	48955386	48955386	-
NM_000321.3(RB1):c.1503T>C (p.Ser501=)	5925	RB1	Likely benign	2138144821	RCV002109196\|RCV002256931;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955387	48955387	48955387	-
NM_000321.3(RB1):c.1505C>T (p.Thr502Ile)	5925	RB1	Conflicting interpretations of pathogenicity	752334972	RCV000541847\|RCV002395310;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955389	48955389	NC_000013.10:g.48955389C>T	ClinGen:CA029053	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1506A>G (p.Thr502=)	5925	RB1	Uncertain significance	1060503081	RCV000461185;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955390	48955390	NC_000013.10:g.48955390A>G	ClinGen:CA16614051	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1510C>T (p.Gln504Ter)	5925	RB1	Pathogenic	886043247	RCV000387387\|RCV001855163;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955394	48955394	13:g.48955394C>T	ClinGen:CA10605288	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1510del (p.Gln504fs)	5925	RB1	Pathogenic	2138144870	RCV001533520;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955394	48955394	48955393	-
NM_000321.3(RB1):c.1512_1513del (p.Asn505fs)	5925	RB1	Pathogenic	1593456963	RCV000809364;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955395	48955396	13:g.48955395_48955396del	-
NM_000321.3(RB1):c.1514A>C (p.Asn505Thr)	5925	RB1	Uncertain significance	1948533141	RCV001221890\|RCV002393535;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955398	48955398	13:g.48955398A>C	-
NM_000321.3(RB1):c.1517T>C (p.Leu506Pro)	5925	RB1	Uncertain significance	-1	RCV002392349\|RCV003095278;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955401	48955401	48955401	-
NM_000321.3(RB1):c.1519_1523dup (p.Gly509fs)	5925	RB1	Pathogenic	2138144919	RCV001382159;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955402	48955403	48955402	-
NM_000321.3(RB1):c.1518T>C (p.Leu506=)	5925	RB1	Likely benign	-1	RCV002786332;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955402	48955402		-
NM_000321.3(RB1):c.1519G>C (p.Asp507His)	5925	RB1	Conflicting interpretations of pathogenicity	2138144909	RCV002027081\|RCV003154233\|RCV002256892;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955403	48955403	48955403	-
NM_000321.3(RB1):c.1526G>C (p.Gly509Ala)	5925	RB1	Uncertain significance	1555286684	RCV000552265;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955410	48955410	NC_000013.10:g.48955410G>C	ClinGen:CA388163370	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1527A>G (p.Gly509=)	5925	RB1	Likely benign	1948533245	RCV002120393\|RCV002391257;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955411	48955411	48955411	-
NM_000321.3(RB1):c.1531G>C (p.Asp511His)	5925	RB1	Uncertain significance	145729675	RCV001012041\|RCV001860689;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955415	48955415	13:g.48955415G>C	-
NM_000321.3(RB1):c.1532dup (p.Asp511fs)	5925	RB1	Pathogenic	2138144988	RCV002035377;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955415	48955416	48955415	-
NM_000321.3(RB1):c.1532A>G (p.Asp511Gly)	5925	RB1	Uncertain significance	1948533324	RCV001324313\|RCV002402907;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955416	48955416	48955416	-
NM_000321.3(RB1):c.1533T>A (p.Asp511Glu)	5925	RB1	Uncertain significance	2138144990	RCV001892346;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955417	48955417	48955417	-
NM_000321.3(RB1):c.1536G>A (p.Leu512=)	5925	RB1	Likely benign	879124999	RCV001457264\|RCV002399958;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955420	48955420	13:g.48955420G>A	-
NM_000321.3(RB1):c.1536G>T (p.Leu512Phe)	5925	RB1	Uncertain significance	879124999	RCV002033379;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955420	48955420	48955420	-
NM_000321.3(RB1):c.1538C>T (p.Ser513Phe)	5925	RB1	Uncertain significance	-1	RCV003051201;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955422	48955422	NC_000013.10:g.48955422C>T	-
NM_000321.3(RB1):c.1540T>C (p.Phe514Leu)	5925	RB1	Uncertain significance	2138145028	RCV001362547;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955424	48955424	48955424	-
NM_000321.3(RB1):c.1542C>T (p.Phe514=)	5925	RB1	Likely benign	1436921535	RCV001460956\|RCV003160867;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955426	48955426	48955426	-
NM_000321.3(RB1):c.1543C>T (p.Pro515Ser)	5925	RB1	Uncertain significance	866664638	RCV001236727\|RCV002402742;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955427	48955427	13:g.48955427C>T	-
NM_000321.3(RB1):c.1545A>G (p.Pro515=)	5925	RB1	Likely benign	1486158291	RCV002194643\|RCV003303727;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955429	48955429	48955429	-
NM_000321.3(RB1):c.1546T>C (p.Trp516Arg)	5925	RB1	Uncertain significance	138201027	RCV001209058;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955430	48955430	13:g.48955430T>C	-
NM_000321.3(RB1):c.1547G>C (p.Trp516Ser)	5925	RB1	Uncertain significance	1555286687	RCV000526136;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955431	48955431	NC_000013.10:g.48955431G>C	ClinGen:CA388163457	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1564A>G (p.Asn522Asp)	5925	RB1	Uncertain significance	2138145139	RCV001954537;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955448	48955448	48955448	-
NM_000321.3(RB1):c.1564A>C (p.Asn522His)	5925	RB1	Uncertain significance	-1	RCV002819745;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955448	48955448	NC_000013.10:g.48955448A>C	-
NM_000321.3(RB1):c.1567_1568dup (p.Leu523fs)	5925	RB1	Pathogenic	1948533760	RCV001067330;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955449	48955450	13:g.48955449_48955450insTT	-
NM_000321.3(RB1):c.1568T>A (p.Leu523Ter)	5925	RB1	Pathogenic	2138145156	RCV001523841;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955452	48955452	48955452	-
NM_000321.3(RB1):c.1568T>G (p.Leu523Ter)	5925	RB1	Pathogenic	-1	RCV003058415;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955452	48955452	NC_000013.10:g.48955452T>G	-
NM_000321.3(RB1):c.1572dup (p.Ala525fs)	5925	RB1	Pathogenic	-1	RCV002829085;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955452	48955453	NC_000013.10:g.48955456dup	-
NM_000321.3(RB1):c.1572del (p.Ala525fs)	5925	RB1	Pathogenic	2138145163	RCV001387219;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955453	48955453	48955452	-
NM_000321.3(RB1):c.1573G>A (p.Ala525Thr)	5925	RB1	Conflicting interpretations of pathogenicity	587778640	RCV000121919\|RCV000701091\|RCV002399489\|RCV003153399;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	13	48955457	48955457	13:g.48955457G>A	ClinGen:CA026380	CN169374 not specified;
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)	5925	RB1	Benign/Likely benign	4151539	RCV000121918\|RCV000203079\|RCV000492428\|RCV001719889;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48955458	48955458	13:g.48955458C>G	UniProtKB:P06400#VAR_019380,ClinGen:CA026381	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1574C>T (p.Ala525Val)	5925	RB1	Uncertain significance	4151539	RCV001215865;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955458	48955458	13:g.48955458C>T	-
NM_000321.3(RB1):c.1575C>G (p.Ala525=)	5925	RB1	Likely benign	-1	RCV003069215;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955459	48955459		-
NM_000321.3(RB1):c.1581T>A (p.Asp527Glu)	5925	RB1	Uncertain significance	1336947639	RCV001990258;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955465	48955465	48955465	-
NM_000321.3(RB1):c.1584_1585insCACTT (p.Tyr529fs)	5925	RB1	Pathogenic	1948533963	RCV001053360;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955466	48955467	13:g.48955466_48955467insTTCAC	-
NM_000321.3(RB1):c.1584T>C (p.Phe528=)	5925	RB1	Likely benign	2138145241	RCV001487686\|RCV003339653;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955468	48955468	48955468	-
NM_000321.3(RB1):c.1587C>T (p.Tyr529=)	5925	RB1	Likely benign	1948534023	RCV002198300;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955471	48955471	48955471	-
NM_000321.3(RB1):c.1587C>A (p.Tyr529Ter)	5925	RB1	Pathogenic	-1	RCV003062586;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955471	48955471	NC_000013.10:g.48955471C>A	-
NM_000321.3(RB1):c.1589A>G (p.Lys530Arg)	5925	RB1	Likely pathogenic	1948534047	RCV001340617;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955473	48955473	48955473	-
NM_000321.3(RB1):c.1593del (p.Ile532fs)	5925	RB1	Pathogenic	2138145303	RCV001805738;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955477	48955477	48955476	-
NM_000321.3(RB1):c.1594A>T (p.Ile532Phe)	5925	RB1	Uncertain significance	2138145305	RCV001887654;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955478	48955478	48955478	-
NM_000321.3(RB1):c.1595T>A (p.Ile532Asn)	5925	RB1	Uncertain significance	1566199571	RCV000689035;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955479	48955479	13:g.48955479T>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1596C>T (p.Ile532=)	5925	RB1	Benign/Likely benign	770728170	RCV000562608\|RCV000871869;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955480	48955480	13:g.48955480C>T	ClinGen:CA029127	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1596C>A (p.Ile532=)	5925	RB1	Likely benign	770728170	RCV001012324\|RCV001440594;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955480	48955480	13:g.48955480C>A	-
NM_000321.3(RB1):c.1597G>T (p.Glu533Ter)	5925	RB1	Pathogenic	1237070816	RCV001383899;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955481	48955481	48955481	-
NM_000321.3(RB1):c.1597G>A (p.Glu533Lys)	5925	RB1	Uncertain significance	1237070816	RCV001927915;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955481	48955481	48955481	-
NM_000321.3(RB1):c.1606A>G (p.Ile536Val)	5925	RB1	Uncertain significance	1948534262	RCV001339751;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955490	48955490	48955490	-
NM_000321.3(RB1):c.1608C>G (p.Ile536Met)	5925	RB1	Uncertain significance	1948534275	RCV001039706;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955492	48955492	13:g.48955492C>G	-
NM_000321.3(RB1):c.1617A>C (p.Glu539Asp)	5925	RB1	Uncertain significance	371031574	RCV000571118\|RCV000632952;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955501	48955501	13:g.48955501A>C	ClinGen:CA029151	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1619G>T (p.Gly540Val)	5925	RB1	Benign/Likely benign	769696726	RCV000541001\|RCV001012454\|RCV003236810;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48955503	48955503	13:g.48955503G>T	ClinGen:CA029168	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1625T>A (p.Leu542Ter)	5925	RB1	Pathogenic	1593457065	RCV000799793\|RCV002397604;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955509	48955509	13:g.48955509T>A	-
NM_000321.3(RB1):c.1629_1630del (p.Glu545fs)	5925	RB1	Pathogenic	1593457070	RCV000793292\|RCV002535890;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	48955513	48955514	13:g.48955513_48955514del	-
NM_000321.3(RB1):c.1629A>T (p.Thr543=)	5925	RB1	Likely benign	1948534428	RCV002088883;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955513	48955513	48955513	-
NM_000321.3(RB1):c.1632A>G (p.Arg544=)	5925	RB1	Benign/Likely benign	143948310	RCV000459478\|RCV000571428\|RCV001731705;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	48955516	48955516	NC_000013.10:g.48955516A>G	ClinGen:CA029191	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1632A>T (p.Arg544Ser)	5925	RB1	Uncertain significance	143948310	RCV001241709;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955516	48955516	13:g.48955516A>T	-
NM_000321.3(RB1):c.1633_1640del (p.Glu545fs)	5925	RB1	Pathogenic	1555286695	RCV000632942;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955517	48955524	13:g.48955517_48955524del	ClinGen:CA658798146	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1633G>T (p.Glu545Ter)	5925	RB1	Pathogenic	1948534542	RCV001257128\|RCV002402800;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955517	48955517	13:g.48955517G>T	-
NM_000321.3(RB1):c.1633G>C (p.Glu545Gln)	5925	RB1	Uncertain significance	1948534542	RCV001934793;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955517	48955517	48955517	-
NM_000321.3(RB1):c.1645C>A (p.His549Asn)	5925	RB1	Uncertain significance	1050717570	RCV000800448;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955529	48955529	13:g.48955529C>A	-
NM_000321.3(RB1):c.1646A>G (p.His549Arg)	5925	RB1	Uncertain significance	2138145592	RCV002034255\|RCV002391141;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955530	48955530	48955530	-
NM_000321.3(RB1):c.1648T>C (p.Leu550=)	5925	RB1	Likely benign	1280754489	RCV002071166\|RCV002391146;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955532	48955532	48955532	-
NM_000321.3(RB1):c.1654C>T (p.Arg552Ter)	5925	RB1	Pathogenic	121913303	RCV000114733\|RCV000492730\|RCV003332118;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48955538	48955538	13:g.48955538C>T	ClinGen:CA026383	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1655G>A (p.Arg552Gln)	5925	RB1	Conflicting interpretations of pathogenicity	146236493	RCV000983840\|RCV002258081;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955539	48955539	13:g.48955539G>A	-
NM_000321.3(RB1):c.1655G>T (p.Arg552Leu)	5925	RB1	Uncertain significance	-1	RCV002395055\|RCV003100774;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955539	48955539	48955539	-
NM_000321.3(RB1):c.1657T>A (p.Cys553Ser)	5925	RB1	Uncertain significance	1948534757	RCV001209434;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955541	48955541	13:g.48955541T>A	-
NM_000321.3(RB1):c.1659T>A (p.Cys553Ter)	5925	RB1	Pathogenic	1593457108	RCV000816000;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955543	48955543	13:g.48955543T>A	-
NM_000321.3(RB1):c.1661A>G (p.Glu554Gly)	5925	RB1	Uncertain significance	-1	RCV002627834\|RCV003294547;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955545	48955545	NC_000013.10:g.48955545A>G	-
NM_000321.3(RB1):c.1663C>T (p.His555Tyr)	5925	RB1	Uncertain significance	772222746	RCV001948443;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955547	48955547	48955547	-
NM_000321.3(RB1):c.1664A>G (p.His555Arg)	5925	RB1	Uncertain significance	1555286700	RCV000552483\|RCV002395311;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955548	48955548	NC_000013.10:g.48955548A>G	ClinGen:CA388163981	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1666C>T (p.Arg556Ter)	5925	RB1	Pathogenic	121913304	RCV000013966\|RCV000114734\|RCV000430238\|RCV000492084;	N	MONDO:MONDO:0003073,MedGen:C2608045\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|Human Phenotype Ontology:HP:0002664,Human Phenotype Ontology:HP:0003008,Human Phenotype Ontology:HP:0006741	13	48955550	48955550	13:g.48955550C>T	ClinGen:CA026386,OMIM:614041.0022	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1667G>A (p.Arg556Gln)	5925	RB1	Conflicting interpretations of pathogenicity	773116120	RCV000792877\|RCV002397570;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955551	48955551	13:g.48955551G>A	-
NM_000321.3(RB1):c.1667G>T (p.Arg556Leu)	5925	RB1	Uncertain significance	773116120	RCV002012574;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955551	48955551	48955551	-
NM_000321.3(RB1):c.1669A>G (p.Ile557Val)	5925	RB1	Uncertain significance	1948534909	RCV002012959;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955553	48955553	48955553	-
NM_000321.3(RB1):c.1669A>C (p.Ile557Leu)	5925	RB1	Uncertain significance	1948534909	RCV001863331;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955553	48955553	48955553	-
NM_000321.3(RB1):c.1673_1674dup (p.Glu559fs)	5925	RB1	Pathogenic	1555286707	RCV000456907;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955556	48955557	NC_000013.10:g.48955557_48955558dup	ClinGen:CA16614058	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1672A>C (p.Met558Leu)	5925	RB1	Uncertain significance	1419550675	RCV000530909\|RCV003459199;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48955556	48955556	13:g.48955556A>C	ClinGen:CA388164012	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1672A>G (p.Met558Val)	5925	RB1	Uncertain significance	1419550675	RCV001965318;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955556	48955556	48955556	-
NM_000321.3(RB1):c.1675del (p.Glu559fs)	5925	RB1	Pathogenic	2138145739	RCV001994876;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955558	48955558	48955557	-
NM_000321.3(RB1):c.1678T>C (p.Ser560Pro)	5925	RB1	Uncertain significance	1593457138	RCV000807102;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955562	48955562	13:g.48955562T>C	-
NM_000321.3(RB1):c.1681C>T (p.Leu561Phe)	5925	RB1	Conflicting interpretations of pathogenicity	761257231	RCV001220561\|RCV003163697;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	48955565	48955565	13:g.48955565C>T	-
NM_000321.3(RB1):c.1684G>C (p.Ala562Pro)	5925	RB1	Uncertain significance	2138145788	RCV001371780;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955568	48955568	48955568	-
NM_000321.3(RB1):c.1686dup (p.Trp563fs)	5925	RB1	Pathogenic	1593457156	RCV000814656;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955569	48955570	13:g.48955569_48955570insA	-
NM_000321.3(RB1):c.1685C>T (p.Ala562Val)	5925	RB1	Uncertain significance	1948535194	RCV001305303;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955569	48955569	48955569	-
NM_000321.3(RB1):c.1688G>A (p.Trp563Ter)	5925	RB1	Pathogenic	587778863	RCV000114735\|RCV003332119;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	48955572	48955572	13:g.48955572G>A	ClinGen:CA026388	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1690C>G (p.Leu564Val)	5925	RB1	Uncertain significance	-1	RCV002406151\|RCV003100790;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955574	48955574	48955574	-
NM_000321.3(RB1):c.1690C>T (p.Leu564Phe)	5925	RB1	Uncertain significance	-1	RCV003070897;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955574	48955574	NC_000013.10:g.48955574C>T	-
NM_000321.3(RB1):c.1693T>C (p.Ser565Pro)	5925	RB1	Uncertain significance	-1	RCV002610977;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955577	48955577	NC_000013.10:g.48955577T>C	-
NM_000321.3(RB1):c.1695A>C (p.Ser565=)	5925	RB1	Uncertain significance	2138145848	RCV002027410;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955579	48955579	48955579	-
NM_000321.3(RB1):c.1695A>G (p.Ser565=)	5925	RB1	Uncertain significance	-1	RCV002726038;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955579	48955579		-
NM_000321.3(RB1):c.1695+1G>A	5925	RB1	Pathogenic	587778857	RCV000114736;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955580	48955580	13:g.48955580G>A	ClinGen:CA026389	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1695+2dup	5925	RB1	Uncertain significance	1566199647	RCV000698686;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955580	48955581	13:g.48955580_48955581insT	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1695+1G>T	5925	RB1	Pathogenic	-1	RCV003041190;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955580	48955580	NC_000013.10:g.48955580G>T	-
NM_000321.3(RB1):c.1695+2T>G	5925	RB1	Pathogenic	2138145859	RCV002002440\|RCV003325592;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	48955581	48955581	48955581	-
NM_000321.3(RB1):c.1695+4A>G	5925	RB1	Uncertain significance	1455944671	RCV001049567;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955583	48955583	13:g.48955583A>G	-
NM_000321.3(RB1):c.1695+12A>G	5925	RB1	Likely benign	2138145893	RCV002095572;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48955591	48955591	48955591	-
NC_000013.10:g.(?_48985727)_(49039514_?)dup	5925	RB1	Pathogenic	-1	RCV001383354;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48985727	49039514	-1	-
NM_001162498.3(LPAR6):c.819C>A (p.Tyr273Ter)	5925	RB1	Likely benign	749894411	RCV000989119;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48985741	48985741	13:g.48985741G>T	-
NM_001162498.3(LPAR6):c.369_370del (p.Lys123fs)	5925	RB1	Likely benign	1177544722	RCV000989120;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986190	48986191	13:g.48986190_48986191del	-
NM_001162498.3(LPAR6):c.368_369insAAAAAAAA (p.Ser124fs)	5925	RB1	Uncertain significance	1370123231	RCV000989121;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986191	48986192	13:g.48986191_48986192insTTTTTTTT	-
NM_001162498.3(LPAR6):c.366T>A (p.Phe122Leu)	5925	RB1	Benign	977436301	RCV000989122;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	48986194	48986194	13:g.48986194A>T	-
NC_000013.11:g.(?_48452979)_(48465378_?)dup	5925	RB1	Likely pathogenic	-1	RCV001031899;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027115	49039514	-1	-
NC_000013.10:g.(?_49027115)_(49054207_?)dup	5925	RB1	Uncertain significance	-1	RCV001307933;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027115	49054207	-1	-
NC_000013.10:g.(?_49027115)_(49047536_?)dup	5925	RB1	Uncertain significance	-1	RCV001373912;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027115	49047536	-1	-
NC_000013.10:g.(?_49027115)_(49054207_?)del	5925	RB1	Pathogenic	-1	RCV001929784;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027115	49054207	-1	-
NM_000321.3(RB1):c.1696-14C>T	5925	RB1	Benign/Likely benign	776912915	RCV002226075\|RCV003093889;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027115	49027115	49027115	-
NM_000321.3(RB1):c.1696-13A>G	5925	RB1	Likely benign	759198467	RCV001970226;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027116	49027116	49027116	-
NM_000321.3(RB1):c.1696-12T>G	5925	RB1	Pathogenic	1060503088	RCV000471747;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027117	49027117	NC_000013.10:g.49027117T>G	ClinGen:CA16614016	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1696-11G>T	5925	RB1	Uncertain significance	1949337308	RCV001110585;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027118	49027118	13:g.49027118G>T	-
NM_000321.3(RB1):c.1696-11G>A	5925	RB1	Likely benign	1949337308	RCV002105324;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027118	49027118	49027118	-
NC_000013.11:g.(?_48452983)_(48465378_?)dup	5925	RB1	Likely pathogenic	-1	RCV001031027;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027119	49039514	-1	-
NC_000013.11:g.(?_48452983)_(48480081_?)del	5925	RB1	Pathogenic	-1	RCV001031050;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027119	49054217	-1	-
NM_000321.3(RB1):c.1696-8T>G	5925	RB1	Likely benign	2138326906	RCV001987180;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027121	49027121	49027121	-
NM_000321.3(RB1):c.1696-7C>T	5925	RB1	Likely benign	180742027	RCV001438568;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027122	49027122	49027122	-
NM_000321.3(RB1):c.1696-6A>T	5925	RB1	Likely benign	1593529859	RCV000971451;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027123	49027123	13:g.49027123A>T	-
NM_000321.3(RB1):c.1696-5T>G	5925	RB1	Uncertain significance	1593529861	RCV000807694;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027124	49027124	13:g.49027124T>G	-
NM_000321.3(RB1):c.1696-4A>G	5925	RB1	Conflicting interpretations of pathogenicity	143685082	RCV000342053\|RCV001012678;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027125	49027125	13:g.49027125A>G	ClinGen:CA032310	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1696-2A>G	5925	RB1	Likely pathogenic	1593529868	RCV000786934\|RCV002397558;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027127	49027127	13:g.49027127A>G	-
NM_000321.3(RB1):c.1696-1G>A	5925	RB1	Pathogenic	794727199	RCV000175271\|RCV001388989;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027128	49027128	13:g.49027128G>A	ClinGen:CA026395	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1699T>C (p.Ser567Pro)	5925	RB1	Uncertain significance	2138326970	RCV001374401;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027132	49027132	49027132	-
NM_000321.3(RB1):c.1700C>T (p.Ser567Leu)	5925	RB1	Pathogenic	137853292	RCV000013947;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027133	49027133	13:g.49027133C>T	ClinGen:CA026396,UniProtKB:P06400#VAR_005579,OMIM:614041.0004	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1706del (p.Leu569fs)	5925	RB1	Pathogenic	1131690842	RCV000492517\|RCV000722018;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027137	49027137	13:g.49027137_49027137del	ClinGen:CA645369523	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1704T>G (p.Pro568=)	5925	RB1	Likely benign	1555293625	RCV000541212\|RCV002404388;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027137	49027137	NC_000013.10:g.49027137T>G	ClinGen:CA483558132	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1707A>G (p.Leu569=)	5925	RB1	Benign/Likely benign	3092895	RCV000562366\|RCV000397463\|RCV000658678;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49027140	49027140	13:g.49027140A>G	ClinGen:CA032354	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1707A>T (p.Leu569Phe)	5925	RB1	Uncertain significance	3092895	RCV001071312;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027140	49027140	13:g.49027140A>T	-
NM_000321.3(RB1):c.1713T>C (p.Asp571=)	5925	RB1	Likely benign	1286122592	RCV002170440\|RCV002398157;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027146	49027146	49027146	-
NM_000321.3(RB1):c.1719T>A (p.Ile573=)	5925	RB1	Likely benign	1593529908	RCV001433218;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027152	49027152	13:g.49027152T>A	-
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu)	5925	RB1	Uncertain significance	1593529910	RCV001012844\|RCV001205411;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027153	49027153	13:g.49027153A>G	-
NM_000321.3(RB1):c.1723C>T (p.Gln575Ter)	5925	RB1	Pathogenic	587778864	RCV000114676;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027156	49027156	13:g.49027156C>T	ClinGen:CA026397	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1731G>T (p.Lys577Asn)	5925	RB1	Uncertain significance	1949337837	RCV001043649\|RCV003307834;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027164	49027164	13:g.49027164G>T	-
NM_000321.3(RB1):c.1731G>C (p.Lys577Asn)	5925	RB1	Uncertain significance	1949337837	RCV001321020\|RCV003339597;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027164	49027164	49027164	-
NM_000321.3(RB1):c.1731G>A (p.Lys577=)	5925	RB1	Likely benign	1949337837	RCV001440951\|RCV003160775;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027164	49027164	49027164	-
NM_000321.3(RB1):c.1735C>T (p.Arg579Ter)	5925	RB1	Pathogenic	121913305	RCV000114677\|RCV000492238\|RCV000521112;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49027168	49027168	13:g.49027168C>T	ClinGen:CA026398	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1736G>A (p.Arg579Gln)	5925	RB1	Conflicting interpretations of pathogenicity	751560923	RCV000477144\|RCV001012950\|RCV003463953;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49027169	49027169	NC_000013.10:g.49027169G>A	ClinGen:CA032389	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1738G>T (p.Glu580Ter)	5925	RB1	Pathogenic	587778858	RCV000114678;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027171	49027171	13:g.49027171G>T	ClinGen:CA026399	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg)	5925	RB1	Uncertain significance	375645171	RCV001012919\|RCV001054750;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027174	49027174	13:g.49027174G>A	-
NM_000321.3(RB1):c.1743dup (p.Pro582fs)	5925	RB1	Pathogenic	2138327123	RCV001989795;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027175	49027176	49027175	-
NM_000321.3(RB1):c.1745C>G (p.Pro582Arg)	5925	RB1	Uncertain significance	757198343	RCV001299389;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027178	49027178	49027178	-
NM_000321.3(RB1):c.1749T>G (p.Thr583=)	5925	RB1	Likely benign	913654931	RCV001012973\|RCV002068863;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027182	49027182	13:g.49027182T>G	-
NM_000321.3(RB1):c.1750G>T (p.Asp584Tyr)	5925	RB1	Uncertain significance	1343212063	RCV001057017\|RCV002400325\|RCV003462566;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49027183	49027183	13:g.49027183G>T	-
NM_000321.3(RB1):c.1754_1755dup (p.Leu586fs)	5925	RB1	Pathogenic	2138327168	RCV001523796;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027185	49027186	49027185	-
NM_000321.3(RB1):c.1753C>G (p.His585Asp)	5925	RB1	Uncertain significance	1401332173	RCV000700788;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027186	49027186	13:g.49027186C>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1753C>T (p.His585Tyr)	5925	RB1	Uncertain significance	1401332173	RCV001213634\|RCV002249802\|RCV002411788;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027186	49027186	13:g.49027186C>T	-
NM_000321.3(RB1):c.1753C>A (p.His585Asn)	5925	RB1	Uncertain significance	-1	RCV002295699;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027186	49027186	49027186	-
NM_000321.3(RB1):c.1755C>T (p.His585=)	5925	RB1	Likely benign	750305249	RCV001013042\|RCV001466701;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027188	49027188	13:g.49027188C>T	-
NM_000321.3(RB1):c.1760_1769del (p.Glu587fs)	5925	RB1	Pathogenic	587776784	RCV000013957;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027189	49027198	13:g.49027189_49027198del	ClinGen:CA026401,OMIM:614041.0014	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1756C>T (p.Leu586Phe)	5925	RB1	Uncertain significance	2138327178	RCV001969325;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027189	49027189	49027189	-
NM_000321.3(RB1):c.1761A>G (p.Glu587=)	5925	RB1	Likely benign	2138327198	RCV001459335;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027194	49027194	49027194	-
NM_000321.3(RB1):c.1763C>T (p.Ser588Phe)	5925	RB1	Uncertain significance	1555293637	RCV000556068\|RCV001013074;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027196	49027196	13:g.49027196C>T	ClinGen:CA388165566	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1764T>A (p.Ser588=)	5925	RB1	Likely benign	542783532	RCV000601302\|RCV000632975\|RCV002404661;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027197	49027197	13:g.49027197T>A	ClinGen:CA032498	CN169374 not specified;
NM_000321.3(RB1):c.1765G>A (p.Ala589Thr)	5925	RB1	Uncertain significance	1949338354	RCV001227388\|RCV003294088;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027198	49027198	13:g.49027198G>A	-
NM_000321.3(RB1):c.1766C>G (p.Ala589Gly)	5925	RB1	Conflicting interpretations of pathogenicity	779045727	RCV000457051\|RCV002402288;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027199	49027199	NC_000013.10:g.49027199C>G	ClinGen:CA16614018	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1766C>T (p.Ala589Val)	5925	RB1	Likely benign	779045727	RCV001067783\|RCV002402461;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027199	49027199	13:g.49027199C>T	-
NM_000321.3(RB1):c.1768T>G (p.Cys590Gly)	5925	RB1	Uncertain significance	1060503089	RCV000458679\|RCV002402289;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027201	49027201	NC_000013.10:g.49027201T>G	ClinGen:CA16614059	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1769G>T (p.Cys590Phe)	5925	RB1	Uncertain significance	1949338458	RCV001322482;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027202	49027202	49027202	-
NM_000321.3(RB1):c.1770T>C (p.Cys590=)	5925	RB1	Benign/Likely benign	145310579	RCV000229449\|RCV000425326\|RCV000572893\|RCV003389713;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49027203	49027203	NC_000013.10:g.49027203T>C	ClinGen:CA032525	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1770del (p.Pro591fs)	5925	RB1	Pathogenic	1949338513	RCV001257130;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027203	49027203	13:g.49027203_49027203del	-
NM_000321.3(RB1):c.1772C>T (p.Pro591Leu)	5925	RB1	Uncertain significance	1221157259	RCV000692294\|RCV002406568\|RCV003465584;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49027205	49027205	13:g.49027205C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1778dup (p.Asn593fs)	5925	RB1	Pathogenic	-1	RCV003041191;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027209	49027210	NC_000013.10:g.49027211dup	-
NM_000321.3(RB1):c.1778A>G (p.Asn593Ser)	5925	RB1	Uncertain significance	138033832	RCV000792481\|RCV002256502;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027211	49027211	13:g.49027211A>G	-
NM_000321.3(RB1):c.1779T>A (p.Asn593Lys)	5925	RB1	Uncertain significance	2138327277	RCV002002085;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027212	49027212	49027212	-
NM_000321.3(RB1):c.1779T>C (p.Asn593=)	5925	RB1	Likely benign	2138327277	RCV002081209;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027212	49027212	49027212	-
NM_000321.3(RB1):c.1780C>T (p.Leu594Phe)	5925	RB1	Uncertain significance	1361971661	RCV001946565;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027213	49027213	49027213	-
NM_000321.3(RB1):c.1782T>C (p.Leu594=)	5925	RB1	Likely benign	2138327293	RCV002112436;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027215	49027215	49027215	-
NM_000321.3(RB1):c.1783C>T (p.Pro595Ser)	5925	RB1	Uncertain significance	1949338684	RCV001359290;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027216	49027216	49027216	-
NM_000321.3(RB1):c.1785T>C (p.Pro595=)	5925	RB1	Likely benign	1194487890	RCV000957243\|RCV001013176;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027218	49027218	13:g.49027218T>C	-
NM_000321.3(RB1):c.1785T>A (p.Pro595=)	5925	RB1	Likely benign	-1	RCV003003062;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027218	49027218		-
NM_000321.3(RB1):c.1789C>T (p.Gln597Ter)	5925	RB1	Pathogenic	1566233076	RCV000706340;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027222	49027222	13:g.49027222C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1789C>A (p.Gln597Lys)	5925	RB1	Uncertain significance	1566233076	RCV001954492;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027222	49027222	49027222	-
NM_000321.3(RB1):c.1790A>G (p.Gln597Arg)	5925	RB1	Uncertain significance	1949338800	RCV001221786;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027223	49027223	13:g.49027223A>G	-
NM_000321.3(RB1):c.1800C>T (p.His600=)	5925	RB1	Likely benign	1555293650	RCV000563787\|RCV001397252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027233	49027233	NC_000013.10:g.49027233C>T	ClinGen:CA483558243	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1802C>G (p.Thr601Ser)	5925	RB1	Uncertain significance	910909092	RCV002406988\|RCV001894993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027235	49027235	49027235	-
NM_000321.3(RB1):c.1802C>T (p.Thr601Ile)	5925	RB1	Uncertain significance	-1	RCV002410018\|RCV003100855;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027235	49027235	49027235	-
NM_000321.3(RB1):c.1807G>A (p.Ala603Thr)	5925	RB1	Uncertain significance	777791058	RCV001913633;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027240	49027240	49027240	-
NM_000321.3(RB1):c.1809A>C (p.Ala603=)	5925	RB1	Likely benign	-1	RCV002898958;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027242	49027242		-
NM_000321.3(RB1):c.1810G>A (p.Asp604Asn)	5925	RB1	Uncertain significance	2138327415	RCV001930888\|RCV002407081;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027243	49027243	49027243	-
NM_000321.3(RB1):c.1811A>G (p.Asp604Gly)	5925	RB1	Uncertain significance	1949339014	RCV001039086;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027244	49027244	13:g.49027244A>G	-
NM_000321.3(RB1):c.1812T>C (p.Asp604=)	5925	RB1	Likely benign	2138327432	RCV002091322;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027245	49027245	49027245	-
NM_000321.3(RB1):c.1814T>C (p.Met605Thr)	5925	RB1	Uncertain significance	1555293654	RCV000529955\|RCV002413464;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027247	49027247	NC_000013.10:g.49027247T>C	ClinGen:CA388165673	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1814+3A>C	5925	RB1	Pathogenic	376886420	RCV000227413;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027250	49027250	13:g.49027250A>C	ClinGen:CA10583159	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1814+3A>G	5925	RB1	Conflicting interpretations of pathogenicity	376886420	RCV000238879\|RCV001013283;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027250	49027250	NC_000013.10:g.49027250A>G	ClinGen:CA032673	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1814+7A>T	5925	RB1	Likely benign	1043922072	RCV001476724;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027254	49027254	49027254	-
NM_000321.3(RB1):c.1814+10A>G	5925	RB1	Uncertain significance	2138327468	RCV001864487;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027257	49027257	49027257	-
NM_000321.3(RB1):c.1814+11T>C	5925	RB1	Conflicting interpretations of pathogenicity	771369373	RCV000834973\|RCV001481225\|RCV002249535\|RCV002256557;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49027258	49027258	13:g.49027258T>C	-
NM_000321.3(RB1):c.1814+12A>G	5925	RB1	Uncertain significance	-1	RCV002715991;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027259	49027259	NC_000013.10:g.49027259A>G	-
NM_000321.3(RB1):c.1814+15T>G	5925	RB1	Likely benign	1833054527	RCV002182351;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49027262	49027262	49027262	-
NM_000321.3(RB1):c.1815-17C>T	5925	RB1	Likely benign	-1	RCV002975723;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030323	49030323	NC_000013.10:g.49030323C>T	-
NM_000321.3(RB1):c.1815-16C>T	5925	RB1	Likely benign	2138330901	RCV002142196;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030324	49030324	49030324	-
NM_000321.3(RB1):c.1815-13T>C	5925	RB1	Likely benign	1285467120	RCV002205264;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030327	49030327	49030327	-
NM_000321.3(RB1):c.1815-12A>G	5925	RB1	Likely benign	370482884	RCV002088694;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030328	49030328	49030328	-
NM_000321.3(RB1):c.1815-8A>G	5925	RB1	Likely benign	1212283121	RCV001942892;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030332	49030332	49030332	-
NM_000321.3(RB1):c.1815-5T>C	5925	RB1	Benign	770160524	RCV000874887\|RCV002409105;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030335	49030335	13:g.49030335T>C	-
NM_000321.3(RB1):c.1815-4C>T	5925	RB1	Conflicting interpretations of pathogenicity	1593531868	RCV001426450\|RCV002409088;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030336	49030336	13:g.49030336C>T	-
NM_000321.3(RB1):c.1815-3T>G	5925	RB1	Uncertain significance	2138330949	RCV001903902;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030337	49030337	49030337	-
NM_000321.3(RB1):c.1815-1G>C	5925	RB1	Uncertain significance	1593531874	RCV000816668;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030339	49030339	13:g.49030339G>C	-
NM_000321.3(RB1):c.1815G>A (p.Met605Ile)	5925	RB1	Conflicting interpretations of pathogenicity	1472724809	RCV000804246\|RCV002406789;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030340	49030340	13:g.49030340G>A	-
NM_000321.3(RB1):c.1818T>A (p.Tyr606Ter)	5925	RB1	Pathogenic	137853297	RCV000013970\|RCV002408459;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030343	49030343	13:g.49030343T>A	ClinGen:CA026402,OMIM:614041.0026	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1823C>G (p.Ser608Cys)	5925	RB1	Uncertain significance	-1	RCV002639649;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030348	49030348	NC_000013.10:g.49030348C>G	-
NM_000321.3(RB1):c.1823C>A (p.Ser608Tyr)	5925	RB1	Uncertain significance	-1	RCV002833012;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030348	49030348	NC_000013.10:g.49030348C>A	-
NM_000321.3(RB1):c.1828G>T (p.Val610Leu)	5925	RB1	Uncertain significance	762613976	RCV001351287;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030353	49030353	49030353	-
NM_000321.3(RB1):c.1829T>C (p.Val610Ala)	5925	RB1	Uncertain significance	934931283	RCV001013338\|RCV001064536;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030354	49030354	13:g.49030354T>C	-
NM_000321.3(RB1):c.1830A>G (p.Val610=)	5925	RB1	Likely benign	1038764979	RCV000632974;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030355	49030355	13:g.49030355A>G	ClinGen:CA249306657	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1836T>G (p.Ser612=)	5925	RB1	Likely benign	1949358828	RCV001413746;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030361	49030361	49030361	-
NM_000321.3(RB1):c.1837C>T (p.Pro613Ser)	5925	RB1	Uncertain significance	1555293835	RCV000632949;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030362	49030362	13:g.49030362C>T	ClinGen:CA388165732	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1838C>T (p.Pro613Leu)	5925	RB1	Uncertain significance	1949358874	RCV001301159;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030363	49030363	49030363	-
NM_000321.3(RB1):c.1840A>G (p.Lys614Glu)	5925	RB1	Uncertain significance	751060248	RCV001979837;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030365	49030365	49030365	-
NM_000321.3(RB1):c.1841A>G (p.Lys614Arg)	5925	RB1	Uncertain significance	2138331098	RCV001974776;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030366	49030366	49030366	-
NM_000321.3(RB1):c.1844A>G (p.Lys615Arg)	5925	RB1	Uncertain significance	1334513810	RCV000809338\|RCV001013374;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030369	49030369	13:g.49030369A>G	-
NM_000321.3(RB1):c.1845A>G (p.Lys615=)	5925	RB1	Likely benign	2138331112	RCV002205114;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030370	49030370	49030370	-
NM_000321.3(RB1):c.1847A>G (p.Lys616Arg)	5925	RB1	Uncertain significance	-1	RCV002303778;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030372	49030372	49030372	-
NM_000321.3(RB1):c.1848A>G (p.Lys616=)	5925	RB1	Likely benign	-1	RCV003041143;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030373	49030373		-
NM_000321.3(RB1):c.1849G>C (p.Gly617Arg)	5925	RB1	Uncertain significance	-1	RCV002667873;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030374	49030374	NC_000013.10:g.49030374G>C	-
NM_000321.3(RB1):c.1850G>T (p.Gly617Val)	5925	RB1	Uncertain significance	-1	RCV003042307;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030375	49030375	NC_000013.10:g.49030375G>T	-
NM_000321.3(RB1):c.1851T>C (p.Gly617=)	5925	RB1	Likely benign	2138331142	RCV001484973;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030376	49030376	49030376	-
NM_000321.3(RB1):c.1855A>G (p.Thr619Ala)	5925	RB1	Uncertain significance	-1	RCV002796121;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030380	49030380	NC_000013.10:g.49030380A>G	-
NM_000321.3(RB1):c.1859C>T (p.Thr620Met)	5925	RB1	Conflicting interpretations of pathogenicity	554834063	RCV000632964\|RCV001013423;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030384	49030384	13:g.49030384C>T	ClinGen:CA032831	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1859C>A (p.Thr620Lys)	5925	RB1	Uncertain significance	554834063	RCV001205068;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030384	49030384	13:g.49030384C>A	-
NM_000321.3(RB1):c.1860G>A (p.Thr620=)	5925	RB1	Likely benign	750356534	RCV000866652\|RCV001013428;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030385	49030385	13:g.49030385G>A	-
NM_000321.3(RB1):c.1861C>A (p.Arg621Ser)	5925	RB1	Conflicting interpretations of pathogenicity	367578442	RCV000121920\|RCV000457901\|RCV000572000\|RCV001570931;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49030386	49030386	13:g.49030386C>A	ClinGen:CA026403	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1861C>G (p.Arg621Gly)	5925	RB1	Benign	367578442	RCV000231374\|RCV002408954;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030386	49030386	NC_000013.10:g.49030386C>G	ClinGen:CA032891	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1861C>T (p.Arg621Cys)	5925	RB1	Conflicting interpretations of pathogenicity	367578442	RCV000460516\|RCV000565788\|RCV001821287;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	13	49030386	49030386	NC_000013.10:g.49030386C>T	ClinGen:CA032901	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1862G>A (p.Arg621His)	5925	RB1	Conflicting interpretations of pathogenicity	373601944	RCV000121922\|RCV001013435\|RCV001083762\|RCV003441744;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49030387	49030387	13:g.49030387G>A	ClinGen:CA026404	CN169374 not specified;
NM_000321.3(RB1):c.1863T>A (p.Arg621=)	5925	RB1	Benign	-1	RCV002620882;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030388	49030388		-
NM_000321.3(RB1):c.1864G>A (p.Val622Ile)	5925	RB1	Uncertain significance	2138331204	RCV002020215\|RCV003170543;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030389	49030389	49030389	-
NM_000321.3(RB1):c.1864G>T (p.Val622Leu)	5925	RB1	Uncertain significance	-1	RCV002598776;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030389	49030389	NC_000013.10:g.49030389G>T	-
NM_000321.3(RB1):c.1865T>C (p.Val622Ala)	5925	RB1	Uncertain significance	-1	RCV002942255;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030390	49030390	NC_000013.10:g.49030390T>C	-
NM_000321.3(RB1):c.1872T>G (p.Ser624=)	5925	RB1	Likely benign	2138331230	RCV001495018;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030397	49030397	49030397	-
NM_000321.3(RB1):c.1876G>A (p.Ala626Thr)	5925	RB1	Benign	747147942	RCV000874888\|RCV002409106;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030401	49030401	13:g.49030401G>A	-
NM_000321.3(RB1):c.1881T>C (p.Asn627=)	5925	RB1	Likely benign	2138331267	RCV001486415;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030406	49030406	49030406	-
NM_000321.3(RB1):c.1883C>T (p.Ala628Val)	5925	RB1	Uncertain significance	1329826610	RCV000802384;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030408	49030408	13:g.49030408C>T	-
NM_000321.3(RB1):c.1883C>G (p.Ala628Gly)	5925	RB1	Uncertain significance	1329826610	RCV002020641\|RCV002407298;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030408	49030408	49030408	-
NM_000321.3(RB1):c.1887_1888del (p.Glu629fs)	5925	RB1	Pathogenic	2138331297	RCV001956389;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030409	49030410	49030408	-
NM_000321.3(RB1):c.1887G>C (p.Glu629Asp)	5925	RB1	Conflicting interpretations of pathogenicity	367668687	RCV000465473\|RCV001013560\|RCV003227760;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49030412	49030412	NC_000013.10:g.49030412G>C	ClinGen:CA032967	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1888A>G (p.Thr630Ala)	5925	RB1	Likely benign	781691254	RCV001466648;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030413	49030413	49030413	-
NM_000321.3(RB1):c.1889C>T (p.Thr630Ile)	5925	RB1	Uncertain significance	1593532012	RCV000815802;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030414	49030414	13:g.49030414C>T	-
NM_000321.3(RB1):c.1890A>G (p.Thr630=)	5925	RB1	Likely benign	1593532014	RCV001502436\|RCV002409295;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030415	49030415	13:g.49030415A>G	-
NM_000321.3(RB1):c.1890_1893del (p.Ala632fs)	5925	RB1	Pathogenic	2138331328	RCV002037779;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030415	49030418	49030414	-
NM_000321.3(RB1):c.1891C>T (p.Gln631Ter)	5925	RB1	Pathogenic	1217977493	RCV001066595\|RCV003117734;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	49030416	49030416	13:g.49030416C>T	-
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg)	5925	RB1	Uncertain significance	1593532019	RCV001013591\|RCV001860744\|RCV003467612;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49030417	49030417	13:g.49030417A>G	-
NM_000321.3(RB1):c.1893del (p.Ala632fs)	5925	RB1	Uncertain significance	-1	RCV003154585;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030417	49030417		-
NM_000321.3(RB1):c.1893A>G (p.Gln631=)	5925	RB1	Likely benign	746361171	RCV001013596\|RCV001438592;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030418	49030418	13:g.49030418A>G	-
NM_000321.3(RB1):c.1895C>A (p.Ala632Glu)	5925	RB1	Uncertain significance	1949359489	RCV001242805\|RCV002411895;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030420	49030420	13:g.49030420C>A	-
NM_000321.3(RB1):c.1897A>G (p.Thr633Ala)	5925	RB1	Uncertain significance	-1	RCV002620628;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030422	49030422	NC_000013.10:g.49030422A>G	-
NM_000321.3(RB1):c.1898C>T (p.Thr633Ile)	5925	RB1	Benign/Likely benign	587778641	RCV000121921\|RCV000632941\|RCV001013545;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030423	49030423	13:g.49030423C>T	ClinGen:CA026405	CN169374 not specified;
NM_000321.3(RB1):c.1898C>A (p.Thr633Asn)	5925	RB1	Uncertain significance	587778641	RCV001969599\|RCV003170289;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030423	49030423	49030423	-
NM_000321.3(RB1):c.1901C>G (p.Ser634Ter)	5925	RB1	Pathogenic	1949359603	RCV001290128;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030426	49030426	49030426	-
NM_000321.3(RB1):c.1903G>T (p.Ala635Ser)	5925	RB1	Uncertain significance	1949359622	RCV001298563;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030428	49030428	49030428	-
NM_000321.3(RB1):c.1904C>G (p.Ala635Gly)	5925	RB1	Uncertain significance	1593532038	RCV000799493;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030429	49030429	13:g.49030429C>G	-
NM_000321.3(RB1):c.1904C>T (p.Ala635Val)	5925	RB1	Uncertain significance	-1	RCV002609368;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030429	49030429	NC_000013.10:g.49030429C>T	-
NM_000321.3(RB1):c.1905C>T (p.Ala635=)	5925	RB1	Likely benign	1593532040	RCV001456847;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030430	49030430	13:g.49030430C>T	-
NM_000321.3(RB1):c.1907del (p.Phe636fs)	5925	RB1	Pathogenic	587781257	RCV000128457;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030431	49030431	13:g.49030431_49030431del	ClinGen:CA026406	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1908C>T (p.Phe636=)	5925	RB1	Likely benign	2138331404	RCV001475371\|RCV002414148;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030433	49030433	49030433	-
NM_000321.3(RB1):c.1908C>G (p.Phe636Leu)	5925	RB1	Uncertain significance	2138331404	RCV001915211;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030433	49030433	49030433	-
NM_000321.3(RB1):c.1909C>T (p.Gln637Ter)	5925	RB1	Pathogenic	587778833	RCV000114680;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030434	49030434	13:g.49030434C>T	ClinGen:CA026407	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1914C>A (p.Thr638=)	5925	RB1	Likely benign	770072166	RCV000873203\|RCV001013678;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030439	49030439	13:g.49030439C>A	-
NM_000321.3(RB1):c.1915C>T (p.Gln639Ter)	5925	RB1	Pathogenic	1949359779	RCV001219872;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030440	49030440	13:g.49030440C>T	-
NM_000321.3(RB1):c.1916dup (p.Lys640fs)	5925	RB1	Pathogenic	2138331459	RCV001533521;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030440	49030441	49030440	-
NM_000321.3(RB1):c.1916A>G (p.Gln639Arg)	5925	RB1	Uncertain significance	775880919	RCV001036357\|RCV002409365;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030441	49030441	13:g.49030441A>G	-
NM_000321.3(RB1):c.1919A>C (p.Lys640Thr)	5925	RB1	Uncertain significance	1949359821	RCV001209871;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030444	49030444	13:g.49030444A>C	-
NM_000321.3(RB1):c.1922C>A (p.Pro641Gln)	5925	RB1	Uncertain significance	1249069450	RCV001955861\|RCV002258337;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030447	49030447	49030447	-
NM_000321.3(RB1):c.1923A>C (p.Pro641=)	5925	RB1	Likely benign	1593532069	RCV001476937;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030448	49030448	13:g.49030448A>C	-
NM_000321.3(RB1):c.1924T>G (p.Leu642Val)	5925	RB1	Uncertain significance	1949359922	RCV001051627;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030449	49030449	13:g.49030449T>G	-
NM_000321.3(RB1):c.1924T>C (p.Leu642=)	5925	RB1	Likely benign	1949359922	RCV002079417;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030449	49030449	49030449	-
NM_000321.3(RB1):c.1925T>A (p.Leu642Ter)	5925	RB1	Pathogenic	587778865	RCV000114681;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030450	49030450	13:g.49030450T>A	ClinGen:CA026408	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1928_1929dup (p.Ser644fs)	5925	RB1	Pathogenic	-1	RCV003009571;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030451	49030452	NC_000013.10:g.49030453_49030454dup	-
NM_000321.3(RB1):c.1927A>G (p.Lys643Glu)	5925	RB1	Pathogenic	587778866	RCV000114682;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030452	49030452	13:g.49030452A>G	ClinGen:CA026409	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1932T>C (p.Ser644=)	5925	RB1	Likely benign	2138331538	RCV002190791\|RCV002409604;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030457	49030457	49030457	-
NM_000321.3(RB1):c.1934C>T (p.Thr645Ile)	5925	RB1	Uncertain significance	2138331549	RCV001919236;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030459	49030459	49030459	-
NM_000321.3(RB1):c.1937_1940del (p.Ser646fs)	5925	RB1	Pathogenic	2138331562	RCV001380940;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030460	49030463	49030459	-
NM_000321.3(RB1):c.1936T>C (p.Ser646Pro)	5925	RB1	Uncertain significance	2138331564	RCV001961292;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030461	49030461	49030461	-
NM_000321.3(RB1):c.1937C>G (p.Ser646Cys)	5925	RB1	Uncertain significance	1173892082	RCV002028601\|RCV002407263;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030462	49030462	49030462	-
NM_000321.3(RB1):c.1940_1943del (p.Leu647fs)	5925	RB1	Pathogenic	2138331576	RCV002012144;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030463	49030466	49030462	-
NM_000321.3(RB1):c.1940T>C (p.Leu647Pro)	5925	RB1	Uncertain significance	2138331582	RCV002050580\|RCV002406913;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030465	49030465	49030465	-
NM_000321.3(RB1):c.1942T>A (p.Ser648Thr)	5925	RB1	Uncertain significance	-1	RCV002615533;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030467	49030467	NC_000013.10:g.49030467T>A	-
NM_000321.3(RB1):c.1943C>G (p.Ser648Ter)	5925	RB1	Pathogenic	-1	RCV003019803;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030468	49030468	NC_000013.10:g.49030468C>G	-
NM_000321.3(RB1):c.1944A>G (p.Ser648=)	5925	RB1	Likely benign	762529301	RCV001413561\|RCV002413985;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030469	49030469	49030469	-
NM_000321.3(RB1):c.1946T>C (p.Leu649Pro)	5925	RB1	Uncertain significance	-1	RCV002413265\|RCV003097373;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030471	49030471	49030471	-
NM_000321.3(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer)	5925	RB1	Pathogenic	587776785	RCV000013958;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030474	49030482	13:g.49030474_49030482del	ClinGen:CA026410,OMIM:614041.0015	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1950_1953del (p.Phe650fs)	5925	RB1	Pathogenic	1593532084	RCV000803123;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030474	49030477	13:g.49030474_49030477del	-
NM_000321.3(RB1):c.1959dup (p.Val654fs)	5925	RB1	Pathogenic	1566234123	RCV000697676;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030478	49030479	13:g.49030478_49030479insA	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1960G>A (p.Val654Met)	5925	RB1	Pathogenic	483352690	RCV000087166\|RCV001854505;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030485	49030485	13:g.49030485G>A	ClinGen:CA026413	CN517202 not provided;
NM_000321.3(RB1):c.1960G>C (p.Val654Leu)	5925	RB1	Pathogenic	483352690	RCV000466407\|RCV001013858;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49030485	49030485	NC_000013.10:g.49030485G>C	ClinGen:CA16614062	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1960_1960+1insC	5925	RB1	Pathogenic	1593532101	RCV000799100;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030485	49030486	13:g.49030485_49030486insC	-
NM_000321.3(RB1):c.1960+1G>C	5925	RB1	Pathogenic	1949360306	RCV001069328;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030486	49030486	13:g.49030486G>C	-
NM_000321.3(RB1):c.1960+1G>T	5925	RB1	Pathogenic	1949360306	RCV001206314;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030486	49030486	13:g.49030486G>T	-
NM_000321.3(RB1):c.1960+1G>A	5925	RB1	Pathogenic	1949360306	RCV001292823;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030486	49030486	49030486	-
NM_000321.3(RB1):c.1960+2T>C	5925	RB1	Pathogenic	587776780	RCV000013945;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030487	49030487	13:g.49030487T>C	ClinGen:CA026411,OMIM:614041.0002	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1960+2T>G	5925	RB1	Pathogenic	587776780	RCV001213175;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030487	49030487	13:g.49030487T>G	-
NM_000321.3(RB1):c.1960+3T>C	5925	RB1	Uncertain significance	1949360348	RCV001235893;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030488	49030488	13:g.49030488T>C	-
NM_000321.3(RB1):c.1960+5G>A	5925	RB1	Likely pathogenic	587778871	RCV000114683\|RCV000578537;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	49030490	49030490	13:g.49030490G>A	ClinGen:CA026412	CN517202 not provided;
NM_000321.3(RB1):c.1960+5G>C	5925	RB1	Pathogenic	587778871	RCV000492192\|RCV002523442;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030490	49030490	NC_000013.10:g.49030490G>C	ClinGen:CA645369526	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1960+6T>G	5925	RB1	Uncertain significance	1949360394	RCV001202353;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030491	49030491	13:g.49030491T>G	-
NM_000321.3(RB1):c.1960+6T>C	5925	RB1	Uncertain significance	-1	RCV003112025;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030491	49030491	NC_000013.10:g.49030491T>C	-
NM_000321.3(RB1):c.1960+8G>T	5925	RB1	Likely benign	2138331737	RCV001415440;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030493	49030493	49030493	-
NM_000321.3(RB1):c.1960+9A>G	5925	RB1	Likely benign	1402321066	RCV001056071;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030494	49030494	13:g.49030494A>G	-
NM_000321.3(RB1):c.1960+10T>A	5925	RB1	Likely benign	2138331743	RCV002082193;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030495	49030495	49030495	-
NM_000321.3(RB1):c.1960+16_1960+21del	5925	RB1	Likely benign	-1	RCV003090656;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030500	49030505	NC_000013.10:g.49030501_49030506del	-
NM_000321.3(RB1):c.1960+19T>A	5925	RB1	Benign	774145452	RCV002122762;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49030504	49030504	49030504	-
NM_000321.3(RB1):c.1960+1316_2107-767del	5925	RB1	Pathogenic	-1	RCV003444439;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49031801	49037100		-
NM_000321.3(RB1):c.1961-293_1987del	5925	RB1	Pathogenic	-1	RCV002857077;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033531	49033850	NC_000013.10:g.49033531_49033850del	-
NM_000321.3(RB1):c.1961-20A>G	5925	RB1	Likely benign	2138335709	RCV002137998;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033804	49033804	49033804	-
NM_000321.3(RB1):c.1961-15T>C	5925	RB1	Likely benign	746388709	RCV002101639;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033809	49033809	49033809	-
NM_000321.3(RB1):c.1961-12T>C	5925	RB1	Benign/Likely benign	201697122	RCV000234127\|RCV000352938\|RCV001722212\|RCV002256132;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033812	49033812	NC_000013.10:g.49033812T>C	ClinGen:CA033234	CN169374 not specified;
NC_000013.11:g.(?_48459678)_(48459843_?)del	5925	RB1	Pathogenic	-1	RCV001031804;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033814	49033979	-1	-
NM_000321.3(RB1):c.1961-9T>C	5925	RB1	Likely benign	2138335750	RCV002136093;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033815	49033815	49033815	-
NM_000321.3(RB1):c.1961-7C>T	5925	RB1	Likely benign	371894780	RCV001477693;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033817	49033817	13:g.49033817C>T	-
NM_000321.3(RB1):c.1961-6C>T	5925	RB1	Benign	200501806	RCV000465774;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033818	49033818	NC_000013.10:g.49033818C>T	ClinGen:CA16614317	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1961-6C>A	5925	RB1	Likely benign	200501806	RCV001210491;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033818	49033818	13:g.49033818C>A	-
NM_000321.3(RB1):c.1961-4A>G	5925	RB1	Conflicting interpretations of pathogenicity	-1	RCV002421744\|RCV003097392;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033820	49033820	49033820	-
NM_000321.3(RB1):c.1961-4A>C	5925	RB1	Likely benign	-1	RCV003059714;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033820	49033820	NC_000013.10:g.49033820A>C	-
NM_000321.3(RB1):c.1961-2A>T	5925	RB1	Pathogenic	587778867	RCV000114684;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033822	49033822	13:g.49033822A>T	ClinGen:CA026414	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1961-1G>T	5925	RB1	Pathogenic	1949383286	RCV001196939;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033823	49033823	13:g.49033823G>T	-
NM_000321.3(RB1):c.1961T>C (p.Val654Ala)	5925	RB1	Uncertain significance	769113950	RCV000703311\|RCV002422584;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033824	49033824	13:g.49033824T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1961T>A (p.Val654Glu)	5925	RB1	Uncertain significance	769113950	RCV001257131;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033824	49033824	13:g.49033824T>A	-
NM_000321.3(RB1):c.1962G>T (p.Val654=)	5925	RB1	Likely benign	2138335792	RCV001399753\|RCV002420893;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033825	49033825	49033825	-
NM_000321.3(RB1):c.1962G>A (p.Val654=)	5925	RB1	Likely benign	-1	RCV002591081;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033825	49033825		-
NM_000321.3(RB1):c.1963T>C (p.Tyr655His)	5925	RB1	Uncertain significance	-1	RCV002998881;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033826	49033826	NC_000013.10:g.49033826T>C	-
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys)	5925	RB1	Uncertain significance	774196937	RCV001257132;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033827	49033827	13:g.49033827A>G	-
NM_000321.3(RB1):c.1964A>T (p.Tyr655Phe)	5925	RB1	Uncertain significance	774196937	RCV001343293;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033827	49033827	49033827	-
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp)	5925	RB1	Conflicting interpretations of pathogenicity	142509759	RCV000034595\|RCV000566730\|RCV001085189\|RCV002281727\|RCV003153323;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:2	13	49033829	49033829	13:g.49033829C>T	ClinGen:CA026415	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1967G>A (p.Arg656Gln)	5925	RB1	Benign/Likely benign	202031219	RCV000476165\|RCV001013867;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033830	49033830	NC_000013.10:g.49033830G>A	ClinGen:CA033414	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1968G>A (p.Arg656=)	5925	RB1	Likely benign	-1	RCV002643659;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033831	49033831		-
NM_000321.3(RB1):c.1971A>G (p.Leu657=)	5925	RB1	Likely benign	2138335837	RCV001395601\|RCV002420879;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033834	49033834	49033834	-
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp)	5925	RB1	Uncertain significance	587778834	RCV000114685;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033836	49033836	13:g.49033836C>A	ClinGen:CA026416	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1976A>G (p.Tyr659Cys)	5925	RB1	Uncertain significance	751799266	RCV001230746\|RCV003227011;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	49033839	49033839	13:g.49033839A>G	-
NM_000321.3(RB1):c.1978_1996del (p.Leu660fs)	5925	RB1	Pathogenic	1593534586	RCV000807700;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033840	49033858	13:g.49033840_49033858del	-
NM_000321.3(RB1):c.1977T>C (p.Tyr659=)	5925	RB1	Likely benign	-1	RCV002870846;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033840	49033840		-
NM_000321.3(RB1):c.1980C>G (p.Leu660=)	5925	RB1	Likely benign	2138335898	RCV001459284;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033843	49033843	49033843	-
NM_000321.3(RB1):c.1981C>T (p.Arg661Trp)	5925	RB1	Pathogenic	137853294	RCV000013962\|RCV000492717\|RCV000510137\|RCV000763335\|RCV000790652;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C4288013\|MONDO:MONDO:0002629,MedGen:C0585442,OMIM:259500, Orphanet:668; M	13	49033844	49033844	13:g.49033844C>T	ClinGen:CA026417,UniProtKB:P06400#VAR_005582,OMIM:614041.0019	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.1982G>A (p.Arg661Gln)	5925	RB1	Uncertain significance	750578651	RCV001013947\|RCV001063089\|RCV003467613;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49033845	49033845	13:g.49033845G>A	-
NM_000321.3(RB1):c.1983G>C (p.Arg661=)	5925	RB1	Likely benign	2138335926	RCV002209518;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033846	49033846	49033846	-
NM_000321.3(RB1):c.1985T>A (p.Leu662Gln)	5925	RB1	Uncertain significance	-1	RCV003042915;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033848	49033848	NC_000013.10:g.49033848T>A	-
NM_000321.3(RB1):c.1988A>G (p.Asn663Ser)	5925	RB1	Conflicting interpretations of pathogenicity	1007286459	RCV000692624\|RCV002422501;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033851	49033851	13:g.49033851A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1989T>C (p.Asn663=)	5925	RB1	Likely benign	780654106	RCV001441634;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033852	49033852	13:g.49033852T>C	ClinGen:CA033637	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1991C>T (p.Thr664Ile)	5925	RB1	Uncertain significance	749739772	RCV001241114\|RCV002418827;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033854	49033854	13:g.49033854C>T	-
NM_000321.3(RB1):c.1992A>G (p.Thr664=)	5925	RB1	Likely benign	755417160	RCV000632982\|RCV001013950;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033855	49033855	NC_000013.10:g.49033855A>G	ClinGen:CA033667	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1992A>T (p.Thr664=)	5925	RB1	Likely benign	755417160	RCV000878413\|RCV001013951;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033855	49033855	13:g.49033855A>T	-
NM_000321.3(RB1):c.1993C>T (p.Leu665Phe)	5925	RB1	Uncertain significance	-1	RCV002675581;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033856	49033856	NC_000013.10:g.49033856C>T	-
NM_000321.3(RB1):c.1994T>G (p.Leu665Arg)	5925	RB1	Uncertain significance	483352689	RCV000087167\|RCV001854506;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033857	49033857	13:g.49033857T>G	ClinGen:CA026418	CN517202 not provided;
NM_000321.3(RB1):c.1995T>C (p.Leu665=)	5925	RB1	Likely benign	2138335982	RCV002205429;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033858	49033858	49033858	-
NM_000321.3(RB1):c.1996T>C (p.Cys666Arg)	5925	RB1	Uncertain significance	1949383921	RCV001112571\|RCV003163262;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033859	49033859	13:g.49033859T>C	-
NM_000321.3(RB1):c.1997G>T (p.Cys666Phe)	5925	RB1	Uncertain significance	1160394123	RCV001299736\|RCV002418904;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033860	49033860	49033860	-
NM_000321.3(RB1):c.2002C>T (p.Arg668Cys)	5925	RB1	Benign/Likely benign	369755801	RCV000793991\|RCV002422691;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033865	49033865	13:g.49033865C>T	-
NM_000321.3(RB1):c.2002C>A (p.Arg668Ser)	5925	RB1	Uncertain significance	369755801	RCV001014055\|RCV001316503;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033865	49033865	13:g.49033865C>A	-
NM_000321.3(RB1):c.2003G>A (p.Arg668His)	5925	RB1	Conflicting interpretations of pathogenicity	551747882	RCV000397474\|RCV001014061\|RCV003441836;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49033866	49033866	13:g.49033866G>A	ClinGen:CA033741	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2004C>T (p.Arg668=)	5925	RB1	Likely benign	566777900	RCV000935664\|RCV002416178;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033867	49033867	13:g.49033867C>T	-
NM_000321.3(RB1):c.2006T>C (p.Leu669Pro)	5925	RB1	Uncertain significance	1949384058	RCV001207217;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033869	49033869	13:g.49033869T>C	-
NM_000321.3(RB1):c.2013dup (p.Glu672Ter)	5925	RB1	Pathogenic	2138336089	RCV001959126;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033875	49033876	49033875	-
NM_000321.3(RB1):c.2016G>A (p.Glu672=)	5925	RB1	Likely benign	1555294098	RCV000559663;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033879	49033879	13:g.49033879G>A	ClinGen:CA483559011	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2019C>G (p.His673Gln)	5925	RB1	Uncertain significance	1949384169	RCV001210539;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033882	49033882	13:g.49033882C>G	-
NM_000321.3(RB1):c.2020C>T (p.Pro674Ser)	5925	RB1	Uncertain significance	1949384188	RCV001351577;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033883	49033883	49033883	-
NM_000321.3(RB1):c.2021C>G (p.Pro674Arg)	5925	RB1	Uncertain significance	-1	RCV003005887;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033884	49033884	NC_000013.10:g.49033884C>G	-
NM_000321.3(RB1):c.2023G>T (p.Glu675Ter)	5925	RB1	Pathogenic	137853295	RCV000013963;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033886	49033886	NC_000013.10:g.49033886G>T	OMIM:614041.0020	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser)	5925	RB1	Uncertain significance	1566235448	RCV000709348;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033890	49033890	13:g.49033890T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2027T>G (p.Leu676Ter)	5925	RB1	Pathogenic	1566235448	RCV001064630\|RCV002509605;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	49033890	49033890	13:g.49033890T>G	-
NM_000321.3(RB1):c.2027T>A (p.Leu676Ter)	5925	RB1	Pathogenic	1566235448	RCV001924110;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033890	49033890	49033890	-
NM_000321.3(RB1):c.2029G>T (p.Glu677Ter)	5925	RB1	Pathogenic	1060503067	RCV000470261;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033892	49033892	NC_000013.10:g.49033892G>T	ClinGen:CA16614022	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2029G>A (p.Glu677Lys)	5925	RB1	Uncertain significance	1060503067	RCV001113911;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033892	49033892	13:g.49033892G>A	-
NM_000321.3(RB1):c.2030A>G (p.Glu677Gly)	5925	RB1	Uncertain significance	1949384321	RCV001322389;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033893	49033893	49033893	-
NM_000321.3(RB1):c.2033A>G (p.His678Arg)	5925	RB1	Uncertain significance	201046651	RCV000687177\|RCV002422474;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033896	49033896	NC_000013.10:g.49033896A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2034dup (p.Ile679fs)	5925	RB1	Pathogenic	2138336180	RCV001533525;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033896	49033897	49033896	-
NM_000321.3(RB1):c.2035_2038dup (p.Ile680fs)	5925	RB1	Pathogenic	1949384403	RCV001290129;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033897	49033898	49033897	-
NM_000321.3(RB1):c.2035A>G (p.Ile679Val)	5925	RB1	Uncertain significance	897199998	RCV000632947\|RCV002420696;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033898	49033898	13:g.49033898A>G	ClinGen:CA249308179	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2038A>G (p.Ile680Val)	5925	RB1	Uncertain significance	1422900655	RCV001014097\|RCV001322691;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033901	49033901	13:g.49033901A>G	-
NM_000321.3(RB1):c.2040C>A (p.Ile680=)	5925	RB1	Likely benign	1593534695	RCV001014189\|RCV001468803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033903	49033903	13:g.49033903C>A	-
NM_000321.3(RB1):c.2042G>A (p.Trp681Ter)	5925	RB1	Pathogenic	-1	RCV002419958\|RCV003101027;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033905	49033905	49033905	-
NM_000321.3(RB1):c.2046C>G (p.Thr682=)	5925	RB1	Likely benign	994129583	RCV000632981\|RCV003338696;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033909	49033909	13:g.49033909C>G	ClinGen:CA483559027	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2046C>T (p.Thr682=)	5925	RB1	Likely benign	994129583	RCV001405952\|RCV002420906;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033909	49033909	49033909	-
NM_000321.3(RB1):c.2049T>C (p.Leu683=)	5925	RB1	Likely benign	1048847950	RCV000864548\|RCV001014234;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033912	49033912	13:g.49033912T>C	-
NM_000321.3(RB1):c.2049T>G (p.Leu683=)	5925	RB1	Likely benign	1048847950	RCV001447606;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033912	49033912	49033912	-
NM_000321.3(RB1):c.2052C>T (p.Phe684=)	5925	RB1	Likely benign	-1	RCV002877042;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033915	49033915		-
NM_000321.3(RB1):c.2053C>T (p.Gln685Ter)	5925	RB1	Pathogenic	878853949	RCV000234228\|RCV000492351;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033916	49033916	13:g.49033916C>T	ClinGen:CA10583160	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2056C>A (p.His686Asn)	5925	RB1	Uncertain significance	-1	RCV002635899;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033919	49033919	NC_000013.10:g.49033919C>A	-
NM_000321.3(RB1):c.2058C>T (p.His686=)	5925	RB1	Likely benign	748484148	RCV002167237;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033921	49033921	49033921	-
NM_000321.3(RB1):c.2061C>T (p.Thr687=)	5925	RB1	Likely benign	113432974	RCV001476804\|RCV002421092;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033924	49033924	49033924	-
NM_000321.3(RB1):c.2062C>T (p.Leu688=)	5925	RB1	Likely benign	-1	RCV002292882\|RCV003097818;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033925	49033925		-
NM_000321.3(RB1):c.2064G>A (p.Leu688=)	5925	RB1	Likely benign	1593534733	RCV000901966;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033927	49033927	13:g.49033927G>A	-
NM_000321.3(RB1):c.2065C>T (p.Gln689Ter)	5925	RB1	Pathogenic	1566235470	RCV000693421;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033928	49033928	13:g.49033928C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2066A>G (p.Gln689Arg)	5925	RB1	Uncertain significance	1447082021	RCV000533565\|RCV002420374;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033929	49033929	NC_000013.10:g.49033929A>G	ClinGen:CA388166884	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2069A>G (p.Asn690Ser)	5925	RB1	Uncertain significance	1949384761	RCV001326436;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033932	49033932	49033932	-
NM_000321.3(RB1):c.2071G>A (p.Glu691Lys)	5925	RB1	Uncertain significance	1593534748	RCV000796980;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033934	49033934	13:g.49033934G>A	-
NM_000321.3(RB1):c.2075A>G (p.Tyr692Cys)	5925	RB1	Uncertain significance	1294102595	RCV001923136;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033938	49033938	49033938	-
NM_000321.3(RB1):c.2076T>C (p.Tyr692=)	5925	RB1	Likely benign	1060504827	RCV001014342\|RCV001506210;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033939	49033939	NC_000013.10:g.49033939T>C	ClinGen:CA16614321	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2078A>G (p.Glu693Gly)	5925	RB1	Uncertain significance	775195256	RCV000686681\|RCV001014347;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49033941	49033941	13:g.49033941A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2082C>T (p.Leu694=)	5925	RB1	Likely benign	762033186	RCV001430224;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033945	49033945	49033945	-
NM_000321.3(RB1):c.2091C>G (p.Asp697Glu)	5925	RB1	Conflicting interpretations of pathogenicity	3092903	RCV000306444\|RCV001014403\|RCV002305481\|RCV003463782;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:15798	13	49033954	49033954	13:g.49033954C>G	ClinGen:CA033984,UniProtKB:P06400#VAR_051911	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2091C>T (p.Asp697=)	5925	RB1	Likely benign	3092903	RCV002160269;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033954	49033954	49033954	-
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)	5925	RB1	Conflicting interpretations of pathogenicity	-1	RCV002424072\|RCV003098609;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033956	49033956	49033956	-
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser)	5925	RB1	Pathogenic/Likely pathogenic	1131690891	RCV000492514\|RCV001294065;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033957	49033957	NC_000013.10:g.49033957G>C	ClinGen:CA388166951	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2099dup (p.Leu700fs)	5925	RB1	Pathogenic	-1	RCV002867382;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033959	49033960	NC_000013.10:g.49033962dup	-
NM_000321.3(RB1):c.2101G>A (p.Asp701Asn)	5925	RB1	Pathogenic	587778859	RCV000114686;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033964	49033964	13:g.49033964G>A	ClinGen:CA026421	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2106+1G>A	5925	RB1	Pathogenic	1949385207	RCV001389511;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033970	49033970	49033970	-
NM_000321.3(RB1):c.2106+1G>C	5925	RB1	Pathogenic	1949385207	RCV002011891;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033970	49033970	49033970	-
NM_000321.3(RB1):c.2106+2T>C	5925	RB1	Conflicting interpretations of pathogenicity	1566235515	RCV000696989;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033971	49033971	13:g.49033971T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2106+2T>A	5925	RB1	Pathogenic	1566235515	RCV000801676;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033971	49033971	13:g.49033971T>A	-
NM_000321.3(RB1):c.2106+3A>G	5925	RB1	Uncertain significance	1353683992	RCV001312652\|RCV003166780\|RCV003469537;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49033972	49033972	49033972	-
NM_000321.3(RB1):c.2106+8A>G	5925	RB1	Likely benign	750581965	RCV000363349;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033977	49033977	13:g.49033977A>G	ClinGen:CA034188	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2106+8A>T	5925	RB1	Likely benign	750581965	RCV000885208;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033977	49033977	13:g.49033977A>T	-
NM_000321.3(RB1):c.2106+14G>A	5925	RB1	Likely benign	760861486	RCV002077640;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033983	49033983	49033983	-
NM_000321.3(RB1):c.2106+15C>G	5925	RB1	Likely benign	-1	RCV002618180;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033984	49033984	NC_000013.10:g.49033984C>G	-
NM_000321.3(RB1):c.2106+16A>T	5925	RB1	Likely benign	-1	RCV003078602;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033985	49033985	NC_000013.10:g.49033985A>T	-
NM_000321.3(RB1):c.2106+18T>G	5925	RB1	Likely benign	-1	RCV002705717;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033987	49033987	NC_000013.10:g.49033987T>G	-
NM_000321.3(RB1):c.2106+19T>A	5925	RB1	Likely benign	2138336629	RCV002195279;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033988	49033988	49033988	-
NM_000321.3(RB1):c.2106+19T>G	5925	RB1	Likely benign	-1	RCV002835248;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49033988	49033988	NC_000013.10:g.49033988T>G	-
NM_000321.3(RB1):c.2107-18C>T	5925	RB1	Likely benign	769658795	RCV002113584;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037849	49037849	49037849	-
NM_000321.3(RB1):c.2107-17A>T	5925	RB1	Likely benign	775406051	RCV002096788;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037850	49037850	49037850	-
NM_000321.3(RB1):c.2107-15C>A	5925	RB1	Likely benign	762781001	RCV002158493;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037852	49037852	49037852	-
NM_000321.3(RB1):c.2107-15C>T	5925	RB1	Likely benign	-1	RCV003092393;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037852	49037852	NC_000013.10:g.49037852C>T	-
NM_000321.3(RB1):c.2107-14A>G	5925	RB1	Likely benign	768316228	RCV002109582;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037853	49037853	49037853	-
NM_000321.3(RB1):c.2107-13A>G	5925	RB1	Uncertain significance	773509289	RCV001968468;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037854	49037854	49037854	-
NM_000321.3(RB1):c.2107-13A>C	5925	RB1	Conflicting interpretations of pathogenicity	773509289	RCV002091475\|RCV002259161;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037854	49037854	49037854	-
NM_000321.3(RB1):c.2107-12T>C	5925	RB1	Likely benign	1399272353	RCV002098385;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037855	49037855	49037855	-
NM_000321.3(RB1):c.2107-3T>G	5925	RB1	Uncertain significance	1949419453	RCV001214435;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037864	49037864	13:g.49037864T>G	-
NM_000321.3(RB1):c.2107-2A>G	5925	RB1	Pathogenic	1593538130	RCV000013952\|RCV001229630;	N	MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037865	49037865	13:g.49037865A>G	OMIM:614041.0009	C0005684 109800 Bladder cancer, somatic;
NM_000321.3(RB1):c.2107-1G>C	5925	RB1	Pathogenic	587778860	RCV000114687;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037866	49037866	13:g.49037866G>C	ClinGen:CA026422	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2114T>A (p.Met705Lys)	5925	RB1	Uncertain significance	2138342236	RCV001998738;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037874	49037874	49037874	-
NM_000321.3(RB1):c.2125_2135dup (p.Lys713fs)	5925	RB1	Pathogenic	2138342284	RCV001523797;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037881	49037882	49037881	-
NM_000321.3(RB1):c.2122A>C (p.Met708Leu)	5925	RB1	Uncertain significance	-1	RCV002922929;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037882	49037882	NC_000013.10:g.49037882A>C	-
NM_000321.3(RB1):c.2123T>C (p.Met708Thr)	5925	RB1	Uncertain significance	2138342287	RCV001983955;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037883	49037883	49037883	-
NM_000321.3(RB1):c.2124G>A (p.Met708Ile)	5925	RB1	Uncertain significance	-1	RCV002619781;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037884	49037884	NC_000013.10:g.49037884G>A	-
NM_000321.3(RB1):c.2127T>C (p.Tyr709=)	5925	RB1	Likely benign	1484231598	RCV001014545\|RCV001470592;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037887	49037887	13:g.49037887T>C	-
NM_000321.3(RB1):c.2131dup (p.Ile711fs)	5925	RB1	Pathogenic	1593538155	RCV000799512;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037890	49037891	13:g.49037890_49037891insA	-
NM_000321.3(RB1):c.2133A>T (p.Ile711=)	5925	RB1	Likely benign	2138342328	RCV002119803\|RCV002416426;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037893	49037893	49037893	-
NM_000321.3(RB1):c.2134T>C (p.Cys712Arg)	5925	RB1	Pathogenic/Likely pathogenic	137853296	RCV000013968\|RCV000492516\|RCV002466401;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0018160,MedGen:C0751483, Orphanet:357027	13	49037894	49037894	13:g.49037894T>C	ClinGen:CA026423,UniProtKB:P06400#VAR_005587,OMIM:614041.0024	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2134T>G (p.Cys712Gly)	5925	RB1	Uncertain significance	137853296	RCV001361083;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037894	49037894	49037894	-
NM_000321.3(RB1):c.2134T>A (p.Cys712Ser)	5925	RB1	Uncertain significance	137853296	RCV002021313;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037894	49037894	49037894	-
NM_000321.3(RB1):c.2145G>A (p.Lys715=)	5925	RB1	Likely benign	1555294515	RCV000632979\|RCV001014568;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037905	49037905	NC_000013.10:g.49037905G>A	ClinGen:CA483559155	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2151A>G (p.Ile717Met)	5925	RB1	Uncertain significance	1555294518	RCV000536039;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037911	49037911	13:g.49037911A>G	ClinGen:CA388167105	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2152G>C (p.Asp718His)	5925	RB1	Uncertain significance	2138342396	RCV001991089;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037912	49037912	49037912	-
NM_000321.3(RB1):c.2152del (p.Asp718fs)	5925	RB1	Pathogenic	-1	RCV003049513;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037912	49037912	NC_000013.10:g.49037912del	-
NM_000321.3(RB1):c.2154C>A (p.Asp718Glu)	5925	RB1	Uncertain significance	1949419727	RCV001209694;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037914	49037914	13:g.49037914C>A	-
NM_000321.3(RB1):c.2154C>T (p.Asp718=)	5925	RB1	Likely benign	1949419727	RCV002173572;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037914	49037914	49037914	-
NM_000321.3(RB1):c.2155C>G (p.Leu719Val)	5925	RB1	Uncertain significance	-1	RCV003024950;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037915	49037915	NC_000013.10:g.49037915C>G	-
NM_000321.3(RB1):c.2160_2167delinsC (p.Lys720fs)	5925	RB1	Pathogenic	1593538175	RCV000808999;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037920	49037927	13:g.49037921_49037927del	-
NM_000321.3(RB1):c.2164A>T (p.Lys722Ter)	5925	RB1	Pathogenic	587778849	RCV000114688\|RCV001014655;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037924	49037924	13:g.49037924A>T	ClinGen:CA026424	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2165A>G (p.Lys722Arg)	5925	RB1	Uncertain significance	-1	RCV002432641\|RCV003098682;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037925	49037925	49037925	-
NM_000321.3(RB1):c.2172dup (p.Val725fs)	5925	RB1	Pathogenic	1566237098	RCV000695245;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037930	49037931	NC_000013.10:g.49037932dup	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2173_2174dup (p.Val725_Thr726insTer)	5925	RB1	Pathogenic	2138342499	RCV001948221;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037931	49037932	49037931	-
NM_000321.3(RB1):c.2175A>G (p.Val725=)	5925	RB1	Likely benign	1339244165	RCV001474731\|RCV002432326;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037935	49037935	49037935	-
NM_000321.3(RB1):c.2185A>G (p.Lys729Glu)	5925	RB1	Uncertain significance	2138342593	RCV001971758;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037945	49037945	49037945	-
NM_000321.3(RB1):c.2186A>G (p.Lys729Arg)	5925	RB1	Uncertain significance	150600740	RCV001066407;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037946	49037946	13:g.49037946A>G	-
NM_000321.3(RB1):c.2186A>C (p.Lys729Thr)	5925	RB1	Uncertain significance	150600740	RCV001919842\|RCV002425194;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037946	49037946	49037946	-
NM_000321.3(RB1):c.2191C>G (p.Leu731Val)	5925	RB1	Uncertain significance	2138342639	RCV001997162;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037951	49037951	49037951	-
NM_000321.3(RB1):c.2191C>A (p.Leu731Ile)	5925	RB1	Uncertain significance	2138342639	RCV002030770;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037951	49037951	49037951	-
NM_000321.3(RB1):c.2194_2197del (p.Pro732fs)	5925	RB1	Pathogenic	1060503075	RCV000476967;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037954	49037957	NC_000013.10:g.49037954_49037957del	ClinGen:CA16614023	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2194C>T (p.Pro732Ser)	5925	RB1	Uncertain significance	2138342656	RCV001968796;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037954	49037954	49037954	-
NM_000321.3(RB1):c.2197C>T (p.His733Tyr)	5925	RB1	Pathogenic	587778835	RCV000114689;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037957	49037957	13:g.49037957C>T	ClinGen:CA026427	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2198A>G (p.His733Arg)	5925	RB1	Uncertain significance	778503152	RCV000632936\|RCV001014744;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037958	49037958	13:g.49037958A>G	ClinGen:CA388167209	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2198A>T (p.His733Leu)	5925	RB1	Uncertain significance	778503152	RCV001014746\|RCV001306596\|RCV003442144;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49037958	49037958	13:g.49037958A>T	-
NM_000321.3(RB1):c.2206C>T (p.Gln736Ter)	5925	RB1	Pathogenic	1593538220	RCV000793849;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037966	49037966	13:g.49037966C>T	-
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro)	5925	RB1	Uncertain significance	1372842030	RCV001014727\|RCV001860773;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037967	49037967	13:g.49037967A>C	-
NM_000321.3(RB1):c.2208G>C (p.Gln736His)	5925	RB1	Uncertain significance	2138342726	RCV001367456;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037968	49037968	49037968	-
NM_000321.3(RB1):c.2209G>T (p.Glu737Ter)	5925	RB1	Pathogenic	587778868	RCV000114690;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037969	49037969	13:g.49037969G>T	ClinGen:CA026428	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2211G>A (p.Glu737=)	5925	RB1	Pathogenic	587776787	RCV000013964\|RCV002426501;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037971	49037971	13:g.49037971G>A	ClinGen:CA026429,OMIM:614041.0021	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2211G>T (p.Glu737Asp)	5925	RB1	Pathogenic	587776787	RCV000632924;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037971	49037971	13:g.49037971G>T	ClinGen:CA388167239	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2211+1G>T	5925	RB1	Pathogenic	1949420231	RCV001056968\|RCV001593230;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	49037972	49037972	13:g.49037972G>T	-
NM_000321.3(RB1):c.2211+1G>A	5925	RB1	Pathogenic	1949420231	RCV002037927;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037972	49037972	49037972	-
NM_000321.3(RB1):c.2211+2T>C	5925	RB1	Pathogenic	2138342748	RCV001533519\|RCV002511095;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49037973	49037973	49037973	-
NM_000321.3(RB1):c.2211+4G>C	5925	RB1	Uncertain significance	1060503076	RCV000461888;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037975	49037975	NC_000013.10:g.49037975G>C	ClinGen:CA16614024	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2211+4G>T	5925	RB1	Uncertain significance	1060503076	RCV002027507\|RCV002425430;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49037975	49037975	49037975	-
NM_000321.3(RB1):c.2211+5G>A	5925	RB1	Pathogenic	1593538236	RCV001953851;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037976	49037976	49037976	-
NM_000321.3(RB1):c.2211+6T>G	5925	RB1	Uncertain significance	-1	RCV002828312;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037977	49037977	NC_000013.10:g.49037977T>G	-
NM_000321.3(RB1):c.2211+7A>G	5925	RB1	Likely benign	753912415	RCV001476167;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037978	49037978	49037978	-
NM_000321.3(RB1):c.2211+15A>G	5925	RB1	Likely benign	376465035	RCV002087672;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037986	49037986	49037986	-
NM_000321.3(RB1):c.2211+16T>C	5925	RB1	Likely benign	530415853	RCV002197202;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037987	49037987	49037987	-
NM_000321.3(RB1):c.2211+17A>G	5925	RB1	Uncertain significance	758845850	RCV001975619;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49037988	49037988	49037988	-
NM_000321.3(RB1):c.2212-16dup	5925	RB1	Benign	553094345	RCV000989130\|RCV002268393;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	49039094	49039095	13:g.49039094_49039095insT	-
NM_000321.3(RB1):c.2212-17_2212-16dup	5925	RB1	Benign	553094345	RCV000989131;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039094	49039095	13:g.49039094_49039095insTT	-
NM_000321.3(RB1):c.2212-18_2212-16dup	5925	RB1	Benign	553094345	RCV000989132;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039094	49039095	13:g.49039094_49039095insTTT	-
NM_000321.3(RB1):c.2212-29_2212-16dup	5925	RB1	Benign	553094345	RCV000989133;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039094	49039095	13:g.49039094_49039095insTTTTTTTTTTTTTT	-
NM_000321.3(RB1):c.2212-37_2212-16dup	5925	RB1	Benign	553094345	RCV000989134;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039094	49039095	13:g.49039094_49039095insTTTTTTTTTTTTTTTTTTTTTT	-
NM_000321.3(RB1):c.2212-18_2212-16del	5925	RB1	Benign	553094345	RCV000989136;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039095	49039097	13:g.49039095_49039097del	-
NM_000321.3(RB1):c.2212-17_2212-16del	5925	RB1	Benign	553094345	RCV000989135;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039095	49039096	13:g.49039095_49039096del	-
NM_000321.3(RB1):c.2212-16T>A	5925	RB1	Conflicting interpretations of pathogenicity	201258424	RCV000153812\|RCV000723933\|RCV001483212\|RCV002255133;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039118	49039118	13:g.49039118T>A	ClinGen:CA026431	CN169374 not specified;
NM_000321.3(RB1):c.2212-16_2212-15insTA	5925	RB1	Likely benign	778124313	RCV002213118;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039118	49039119	49039118	-
NM_000321.3(RB1):c.2212-15A>G	5925	RB1	Conflicting interpretations of pathogenicity	372815788	RCV000176258\|RCV002054075;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039119	49039119	13:g.49039119A>G	ClinGen:CA026430	CN169374 not specified;
NM_000321.3(RB1):c.2212-13_2212-12insTTTTTTTT	5925	RB1	Benign	1593539077	RCV000989137;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039120	49039121	13:g.49039120_49039121insTTTTTTTT	-
NM_000321.3(RB1):c.2212-14C>T	5925	RB1	Benign	80122842	RCV001713908\|RCV002073320;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039120	49039120	49039120	-
NM_000321.3(RB1):c.2212-14C>A	5925	RB1	Likely benign	-1	RCV002962964;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039120	49039120	NC_000013.10:g.49039120C>A	-
NM_000321.3(RB1):c.2212-13T>A	5925	RB1	Pathogenic	2138344431	RCV000114691;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039121	49039121	49039121	-
NM_000321.3(RB1):c.2212-12G>T	5925	RB1	Benign	776987458	RCV001714610\|RCV002539729;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039122	49039122	49039122	-
NM_000321.3(RB1):c.2212-12G>C	5925	RB1	Likely benign	776987458	RCV002199432;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039122	49039122	49039122	-
NM_000321.3(RB1):c.2212-12G>A	5925	RB1	Likely benign	776987458	RCV002115495\|RCV002258382;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039122	49039122	49039122	-
NM_000321.3(RB1):c.2212-9C>T	5925	RB1	Likely benign	765386327	RCV000457226;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039125	49039125	NC_000013.10:g.49039125C>T	ClinGen:CA034829	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2212-9C>A	5925	RB1	Benign/Likely benign	765386327	RCV000902029\|RCV002249574;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	49039125	49039125	13:g.49039125C>A	-
NM_000321.3(RB1):c.2212-9C>G	5925	RB1	Likely benign	765386327	RCV002162977;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039125	49039125	49039125	-
NM_000321.3(RB1):c.2212-8T>C	5925	RB1	Likely benign	1296127483	RCV001446728;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039126	49039126	49039126	-
NM_000321.3(RB1):c.2212-8T>G	5925	RB1	Likely benign	1296127483	RCV002123990;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039126	49039126	49039126	-
NM_000321.3(RB1):c.2212-6C>T	5925	RB1	Benign/Likely benign	776162179	RCV000470958\|RCV001199899;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	49039128	49039128	NC_000013.10:g.49039128C>T	ClinGen:CA034817	C0035335 180200 Retinoblastoma;
NC_000013.11:g.(?_48464992)_(48465374_?)del	5925	RB1	Pathogenic	-1	RCV000632989;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039128	49039510		-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2212-3C>G	5925	RB1	Uncertain significance	-1	RCV002866969;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039131	49039131	NC_000013.10:g.49039131C>G	-
NC_000013.11:g.48464999_48465023del	5925	RB1	Pathogenic	2138344503	RCV001389509;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039132	49039156		-
NM_000321.3(RB1):c.2212-1G>A	5925	RB1	Pathogenic	587776786	RCV000013959;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039133	49039133	13:g.49039133G>A	ClinGen:CA026432,OMIM:614041.0016	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2212-1G>C	5925	RB1	Pathogenic	587776786	RCV001390325;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039133	49039133	49039133	-
NM_000321.3(RB1):c.2221C>T (p.Arg741Cys)	5925	RB1	Conflicting interpretations of pathogenicity	529366765	RCV000632953\|RCV001014843\|RCV003459512;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49039143	49039143	13:g.49039143C>T	ClinGen:CA034862	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2221C>A (p.Arg741Ser)	5925	RB1	Uncertain significance	529366765	RCV001218489;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039143	49039143	13:g.49039143C>A	-
NM_000321.3(RB1):c.2222G>A (p.Arg741His)	5925	RB1	Conflicting interpretations of pathogenicity	764520289	RCV000704707\|RCV001014847;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039144	49039144	13:g.49039144G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2224G>C (p.Val742Leu)	5925	RB1	Uncertain significance	1060503083	RCV000477058;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039146	49039146	NC_000013.10:g.49039146G>C	ClinGen:CA16614063	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2228_2231dup (p.Lys745fs)	5925	RB1	Pathogenic	587778836	RCV000114692;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039148	49039149	13:g.49039148_49039149insTTGA	ClinGen:CA269694	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2228T>C (p.Leu743Ser)	5925	RB1	Uncertain significance	-1	RCV002428171\|RCV003101144;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039150	49039150	49039150	-
NM_000321.3(RB1):c.2234A>G (p.Lys745Arg)	5925	RB1	Uncertain significance	-1	RCV002608616;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039156	49039156	NC_000013.10:g.49039156A>G	-
NM_000321.3(RB1):c.2237_2241del (p.Glu746fs)	5925	RB1	Pathogenic	2138344622	RCV001523845;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039157	49039161	49039156	-
NM_000321.3(RB1):c.2235A>G (p.Lys745=)	5925	RB1	Uncertain significance	1949430328	RCV002023477;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039157	49039157	49039157	-
NM_000321.3(RB1):c.2236G>C (p.Glu746Gln)	5925	RB1	Uncertain significance	958914211	RCV000697556;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039158	49039158	13:g.49039158G>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2236G>T (p.Glu746Ter)	5925	RB1	Pathogenic	958914211	RCV001381396;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039158	49039158	49039158	-
NM_000321.3(RB1):c.2238del (p.Glu747fs)	5925	RB1	Pathogenic	1949430414	RCV001233849;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039159	49039159	13:g.49039159_49039159del	-
NM_000321.3(RB1):c.2238A>G (p.Glu746=)	5925	RB1	Likely benign	991505835	RCV000556670\|RCV001014873;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039160	49039160	13:g.49039160A>G	ClinGen:CA249310358	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2239G>A (p.Glu747Lys)	5925	RB1	Uncertain significance	1593539163	RCV000810234;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039161	49039161	13:g.49039161G>A	-
NM_000321.3(RB1):c.2239GAG[1] (p.Glu748del)	5925	RB1	Uncertain significance	2138344648	RCV001358592\|RCV002420776\|RCV001871952;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039161	49039163	49039160	-
NM_000321.3(RB1):c.2241G>A (p.Glu747=)	5925	RB1	Likely benign	750057315	RCV001479605\|RCV002427328;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039163	49039163	13:g.49039163G>A	-
NM_000321.3(RB1):c.2241G>C (p.Glu747Asp)	5925	RB1	Uncertain significance	-1	RCV002301735;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039163	49039163	49039163	-
NM_000321.3(RB1):c.2242G>A (p.Glu748Lys)	5925	RB1	Uncertain significance	121913297	RCV000632956\|RCV003321698;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	49039164	49039164	NC_000013.10:g.49039164G>A	ClinGen:CA388167545	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2244del (p.Glu748fs)	5925	RB1	Pathogenic	587776781	RCV000013949;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039166	49039166	13:g.49039166_49039166del	ClinGen:CA026434,OMIM:614041.0006	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2244G>C (p.Glu748Asp)	5925	RB1	Uncertain significance	1131690911	RCV001326597;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039166	49039166	49039166	-
NM_000321.3(RB1):c.2246_2247del (p.Glu748_Tyr749insTer)	5925	RB1	Pathogenic	1949430616	RCV001196146;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039167	49039168	13:g.49039167_49039168del	-
NM_000321.3(RB1):c.2247T>A (p.Tyr749Ter)	5925	RB1	Pathogenic	587778861	RCV000114693;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039169	49039169	13:g.49039169T>A	ClinGen:CA026435	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2247_2248insAA (p.Asp750fs)	5925	RB1	Pathogenic	1555294600	RCV000632960;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039169	49039170	13:g.49039169_49039170insAA	ClinGen:CA658798152	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2253T>C (p.Ser751=)	5925	RB1	Likely benign	-1	RCV002615050;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039175	49039175		-
NM_000321.3(RB1):c.2254A>C (p.Ile752Leu)	5925	RB1	Uncertain significance	1555294601	RCV000632940;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039176	49039176	NC_000013.10:g.49039176A>C	ClinGen:CA388167573	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2254A>G (p.Ile752Val)	5925	RB1	Uncertain significance	1555294601	RCV000705826;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039176	49039176	NC_000013.10:g.49039176A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2259A>C (p.Ile753=)	5925	RB1	Likely benign	1387030828	RCV002109929\|RCV002443216;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039181	49039181	49039181	-
NM_000321.3(RB1):c.2260G>C (p.Val754Leu)	5925	RB1	Uncertain significance	587778642	RCV000121925\|RCV001045444\|RCV002444580;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039182	49039182	13:g.49039182G>C	ClinGen:CA026436	CN169374 not specified;
NM_000321.3(RB1):c.2261T>G (p.Val754Gly)	5925	RB1	Uncertain significance	-1	RCV003044675;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039183	49039183	NC_000013.10:g.49039183T>G	-
NM_000321.3(RB1):c.2268T>C (p.Tyr756=)	5925	RB1	Likely benign	2138344778	RCV002157789\|RCV003348803;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039190	49039190	49039190	-
NM_000321.3(RB1):c.2271C>T (p.Asn757=)	5925	RB1	Likely benign	-1	RCV002443901\|RCV003101185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039193	49039193		-
NM_000321.3(RB1):c.2273C>T (p.Ser758Leu)	5925	RB1	Benign/Likely benign	754814477	RCV000873005\|RCV002444946;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039195	49039195	13:g.49039195C>T	-
NM_000321.3(RB1):c.2274G>A (p.Ser758=)	5925	RB1	Benign/Likely benign	558114005	RCV000703385\|RCV001014866;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039196	49039196	NC_000013.10:g.49039196G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2279T>C (p.Phe760Ser)	5925	RB1	Likely pathogenic	1949430890	RCV002272620;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039201	49039201	49039201	-
NM_000321.3(RB1):c.2280del (p.Phe760fs)	5925	RB1	Pathogenic	2138344869	RCV001947025;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039202	49039202	49039201	-
NM_000321.3(RB1):c.2281A>T (p.Met761Leu)	5925	RB1	Uncertain significance	-1	RCV002632367;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039203	49039203	NC_000013.10:g.49039203A>T	-
NM_000321.3(RB1):c.2284C>A (p.Gln762Lys)	5925	RB1	Uncertain significance	1593539225	RCV000801621\|RCV002442661;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039206	49039206	13:g.49039206C>A	-
NM_000321.3(RB1):c.2284C>T (p.Gln762Ter)	5925	RB1	Pathogenic	1593539225	RCV000801885;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039206	49039206	13:g.49039206C>T	-
NM_000321.3(RB1):c.2285A>T (p.Gln762Leu)	5925	RB1	Uncertain significance	1593539228	RCV000817643;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039207	49039207	13:g.49039207A>T	-
NM_000321.3(RB1):c.2288G>A (p.Arg763Lys)	5925	RB1	Uncertain significance	2138344904	RCV001981875\|RCV002442894;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039210	49039210	49039210	-
NM_000321.3(RB1):c.2289A>T (p.Arg763Ser)	5925	RB1	Conflicting interpretations of pathogenicity	1167280920	RCV000535183\|RCV001015075\|RCV003459200;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49039211	49039211	13:g.49039211A>T	ClinGen:CA388167657	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2290C>G (p.Leu764Val)	5925	RB1	Uncertain significance	138637932	RCV000632950\|RCV002458008;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039212	49039212	13:g.49039212C>G	ClinGen:CA035090	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2293A>T (p.Lys765Ter)	5925	RB1	Pathogenic	2138344925	RCV001523846;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039215	49039215	49039215	-
NM_000321.3(RB1):c.2294A>G (p.Lys765Arg)	5925	RB1	Uncertain significance	2138344931	RCV002035051;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039216	49039216	49039216	-
NM_000321.3(RB1):c.2297C>T (p.Thr766Ile)	5925	RB1	Uncertain significance	1949431128	RCV001933600;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039219	49039219	49039219	-
NM_000321.3(RB1):c.2308C>T (p.Gln770Ter)	5925	RB1	Pathogenic	2138344987	RCV001523844;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039230	49039230	49039230	-
NM_000321.3(RB1):c.2310G>A (p.Gln770=)	5925	RB1	Likely benign	777040395	RCV001419369\|RCV003394041\|RCV002449140;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039232	49039232	49039232	-
NM_000321.3(RB1):c.2310G>C (p.Gln770His)	5925	RB1	Uncertain significance	777040395	RCV001932478;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039232	49039232	49039232	-
NC_000013.10:g.(?_49039232)_(49040694_?)del	5925	RB1	Pathogenic	-1	RCV003111019;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039232	49040694		-
NM_000321.3(RB1):c.2311T>C (p.Tyr771His)	5925	RB1	Uncertain significance	746038522	RCV001934099\|RCV002442912;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039233	49039233	49039233	-
NM_000321.3(RB1):c.2315C>T (p.Ala772Val)	5925	RB1	Uncertain significance	2138345026	RCV002014435;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039237	49039237	49039237	-
NM_000321.3(RB1):c.2319C>T (p.Ser773=)	5925	RB1	Likely benign	2138345040	RCV001417438\|RCV002449135;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039241	49039241	49039241	-
NM_000321.3(RB1):c.2320A>G (p.Thr774Ala)	5925	RB1	Uncertain significance	2138345047	RCV002020958;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039242	49039242	49039242	-
NM_000321.3(RB1):c.2325+1G>A	5925	RB1	Pathogenic	1131690882	RCV000492105\|RCV000705417\|RCV001563578;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49039248	49039248	NC_000013.10:g.49039248G>A	ClinGen:CA388167737	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2325+1G>C	5925	RB1	Pathogenic/Likely pathogenic	1131690882	RCV000492322\|RCV001856949;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039248	49039248	13:g.49039248G>C	ClinGen:CA388167738	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2325+1G>T	5925	RB1	Pathogenic	1131690882	RCV001523802;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039248	49039248	49039248	-
NM_000321.3(RB1):c.2325+2T>A	5925	RB1	Pathogenic	2138345077	RCV001533523;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039249	49039249	49039249	-
NM_000321.3(RB1):c.2325+2T>G	5925	RB1	Likely pathogenic	-1	RCV003337752;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039249	49039249		-
NM_000321.3(RB1):c.2325+3_2325+5del	5925	RB1	Uncertain significance	2138345090	RCV001975696;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039250	49039252	49039249	-
NM_000321.3(RB1):c.2325+4G>A	5925	RB1	Uncertain significance	775640888	RCV000805425;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039251	49039251	13:g.49039251G>A	-
NM_000321.3(RB1):c.2325+5G>T	5925	RB1	Uncertain significance	-1	RCV002889891;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039252	49039252	NC_000013.10:g.49039252G>T	-
NM_000321.3(RB1):c.2325+6T>G	5925	RB1	Uncertain significance	2138345102	RCV001968233;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039253	49039253	49039253	-
NM_000321.3(RB1):c.2325+11del	5925	RB1	Benign	2138345110	RCV002115873;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039255	49039255	49039254	-
NM_000321.3(RB1):c.2325+10A>G	5925	RB1	Likely benign	763525092	RCV000550089\|RCV000615736;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN169374	13	49039257	49039257	13:g.49039257A>G	ClinGen:CA035176	CN169374 not specified;
NM_000321.3(RB1):c.2325+17C>T	5925	RB1	Likely benign	774913854	RCV002095533;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039264	49039264	49039264	-
NM_000321.3(RB1):c.2326-17T>C	5925	RB1	Likely benign	-1	RCV002824260;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039324	49039324	NC_000013.10:g.49039324T>C	-
NM_000321.3(RB1):c.2326-10T>G	5925	RB1	Likely benign	2138345419	RCV001475790;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039331	49039331	49039331	-
NM_000321.3(RB1):c.2326-8T>G	5925	RB1	Likely benign	2138345427	RCV001451774;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039333	49039333	49039333	-
NM_000321.3(RB1):c.2326-4C>G	5925	RB1	Likely benign	1356053052	RCV001015194\|RCV001406918;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039337	49039337	13:g.49039337C>G	-
NM_000321.3(RB1):c.2326-4C>T	5925	RB1	Likely benign	-1	RCV003066516;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039337	49039337	NC_000013.10:g.49039337C>T	-
NM_000321.3(RB1):c.2326-2A>G	5925	RB1	Pathogenic	1949432057	RCV001057987;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039339	49039339	13:g.49039339A>G	-
NM_000321.3(RB1):c.2327C>A (p.Pro776His)	5925	RB1	Uncertain significance	912203557	RCV000573124\|RCV001069557\|RCV003459396;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49039342	49039342	13:g.49039342C>A	ClinGen:CA249310458	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2331T>C (p.Pro777=)	5925	RB1	Likely benign	2138345470	RCV002175870;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039346	49039346	49039346	-
NM_000321.3(RB1):c.2332A>G (p.Thr778Ala)	5925	RB1	Uncertain significance	878853950	RCV000228067\|RCV002444884\|RCV003463654;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49039347	49039347	NC_000013.10:g.49039347A>G	ClinGen:CA10583161	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile)	5925	RB1	Uncertain significance	1593539364	RCV001015215\|RCV001063422;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039348	49039348	13:g.49039348C>T	-
NM_000321.3(RB1):c.2334C>T (p.Thr778=)	5925	RB1	Likely benign	1593539365	RCV000980765\|RCV002445134;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039349	49039349	13:g.49039349C>T	-
NM_000321.3(RB1):c.2339C>G (p.Ser780Ter)	5925	RB1	Pathogenic	1593539366	RCV000819160;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039354	49039354	13:g.49039354C>G	-
NM_000321.3(RB1):c.2342C>T (p.Pro781Leu)	5925	RB1	Uncertain significance	-1	RCV002301978;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039357	49039357	49039357	-
NM_000321.3(RB1):c.2344A>G (p.Ile782Val)	5925	RB1	Conflicting interpretations of pathogenicity	1283644725	RCV001035332\|RCV002427480\|RCV003461427;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49039359	49039359	13:g.49039359A>G	-
NM_000321.3(RB1):c.2345T>C (p.Ile782Thr)	5925	RB1	Uncertain significance	1949432262	RCV001051062\|RCV002256661;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039360	49039360	13:g.49039360T>C	-
NM_000321.3(RB1):c.2349T>A (p.Pro783=)	5925	RB1	Likely benign	753349760	RCV001015253\|RCV001392369;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039364	49039364	13:g.49039364T>A	-
NM_000321.3(RB1):c.2351A>T (p.His784Leu)	5925	RB1	Uncertain significance	-1	RCV003079418;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039366	49039366	NC_000013.10:g.49039366A>T	-
NM_000321.3(RB1):c.2353A>G (p.Ile785Val)	5925	RB1	Uncertain significance	2138345573	RCV001366111;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039368	49039368	49039368	-
NM_000321.3(RB1):c.2353A>C (p.Ile785Leu)	5925	RB1	Uncertain significance	2138345573	RCV001955048;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039368	49039368	49039368	-
NM_000321.3(RB1):c.2356C>T (p.Pro786Ser)	5925	RB1	Conflicting interpretations of pathogenicity	754507551	RCV000528489\|RCV000761011\|RCV001015131;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|Human Phenotype Ontology:HP:0002885,MONDO:MONDO:0007959,MeSH:D008527,MedGen:C0025149,OMIM:155255, Orphanet:616\|MONDO:MONDO:0015356,MeSH:D009386,	13	49039371	49039371	13:g.49039371C>T	ClinGen:CA035332	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2357C>A (p.Pro786His)	5925	RB1	Uncertain significance	-1	RCV002796138;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039372	49039372	NC_000013.10:g.49039372C>A	-
NM_000321.3(RB1):c.2359C>T (p.Arg787Ter)	5925	RB1	Conflicting interpretations of pathogenicity	137853293	RCV000013948\|RCV000492108\|RCV000760351;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49039374	49039374	13:g.49039374C>T	ClinGen:CA026438,OMIM:614041.0005	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2359C>G (p.Arg787Gly)	5925	RB1	Uncertain significance	137853293	RCV001320631;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039374	49039374	49039374	-
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)	5925	RB1	Conflicting interpretations of pathogenicity	748094394	RCV000455977\|RCV000459571\|RCV000566207\|RCV000859119;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49039375	49039375	NC_000013.10:g.49039375G>A	ClinGen:CA035361	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2361A>C (p.Arg787=)	5925	RB1	Likely benign	-1	RCV003040205;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039376	49039376		-
NM_000321.3(RB1):c.2363_2384dup (p.Leu797_Arg798insGlnValSerTerProLeu)	5925	RB1	Pathogenic	1593539386	RCV001015294\|RCV001523800;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039377	49039378	13:g.49039377_49039378insGCCCTTACAAGTTTCCTAGTTC	-
NM_000321.3(RB1):c.2364C>G (p.Ser788Arg)	5925	RB1	Uncertain significance	-1	RCV002834222;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039379	49039379	NC_000013.10:g.49039379C>G	-
NM_000321.3(RB1):c.2365C>T (p.Pro789Ser)	5925	RB1	Uncertain significance	1949432512	RCV001321511\|RCV003166864;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039380	49039380	49039380	-
NM_000321.3(RB1):c.2366C>T (p.Pro789Leu)	5925	RB1	Uncertain significance	1467492987	RCV001015300\|RCV002298827;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039381	49039381	13:g.49039381C>T	-
NM_000321.3(RB1):c.2370_2372del (p.Tyr790_Lys791delinsTer)	5925	RB1	Pathogenic	2138345650	RCV001533527;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039384	49039386	49039383	-
NM_000321.3(RB1):c.2370C>G (p.Tyr790Ter)	5925	RB1	Pathogenic	794727372	RCV000114694;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039385	49039385	49039385	-
NM_000321.3(RB1):c.2370C>T (p.Tyr790=)	5925	RB1	Likely benign	794727372	RCV001015319\|RCV002068903;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039385	49039385	13:g.49039385C>T	-
NM_000321.3(RB1):c.2371_2372insGTGT (p.Lys791fs)	5925	RB1	Pathogenic	2138345665	RCV001533526;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039386	49039387	49039386	-
NM_000321.3(RB1):c.2372A>G (p.Lys791Arg)	5925	RB1	Conflicting interpretations of pathogenicity	777670056	RCV001349024\|RCV002447426;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039387	49039387	49039387	-
NM_000321.3(RB1):c.2375T>C (p.Phe792Ser)	5925	RB1	Uncertain significance	2138345676	RCV002040839;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039390	49039390	49039390	-
NM_000321.3(RB1):c.2377C>T (p.Pro793Ser)	5925	RB1	Uncertain significance	947540268	RCV001300150;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039392	49039392	49039392	-
NM_000321.3(RB1):c.2381G>C (p.Ser794Thr)	5925	RB1	Uncertain significance	1240896329	RCV000795079\|RCV002458421;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039396	49039396	13:g.49039396G>C	-
NM_000321.3(RB1):c.2384_2390del (p.Ser795fs)	5925	RB1	Pathogenic	2138345718	RCV001387265;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039397	49039403	49039396	-
NM_000321.3(RB1):c.2382T>C (p.Ser794=)	5925	RB1	Likely benign	1470919585	RCV001475491\|RCV002456826;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039397	49039397	49039397	-
NM_000321.3(RB1):c.2388del (p.Leu797fs)	5925	RB1	Pathogenic	869264218	RCV001214854;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039401	49039401	13:g.49039401_49039401del	-
NM_000321.3(RB1):c.2386C>T (p.Pro796Ser)	5925	RB1	Uncertain significance	-1	RCV003038003;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039401	49039401	NC_000013.10:g.49039401C>T	-
NM_000321.3(RB1):c.2388C>T (p.Pro796=)	5925	RB1	Likely benign	-1	RCV002611720;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039403	49039403		-
NM_000321.3(RB1):c.2391A>G (p.Leu797=)	5925	RB1	Likely benign	-1	RCV002785693;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039406	49039406		-
NM_000321.3(RB1):c.2392C>T (p.Arg798Trp)	5925	RB1	Benign/Likely benign	187912365	RCV000467563\|RCV000566527;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039407	49039407	NC_000013.10:g.49039407C>T	ClinGen:CA035443	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2392C>A (p.Arg798=)	5925	RB1	Likely benign	-1	RCV002459580\|RCV003098845;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039407	49039407		-
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)	5925	RB1	Conflicting interpretations of pathogenicity	374523971	RCV000870444\|RCV001015383\|RCV002249562\|RCV002510996;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	13	49039408	49039408	13:g.49039408G>A	-
NM_000321.3(RB1):c.2394G>T (p.Arg798=)	5925	RB1	Likely benign	1178103435	RCV001427549;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039409	49039409	49039409	-
NM_000321.3(RB1):c.2397T>G (p.Ile799Met)	5925	RB1	Conflicting interpretations of pathogenicity	749392116	RCV000539938\|RCV001015403\|RCV003327413;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49039412	49039412	13:g.49039412T>G	ClinGen:CA035479	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2397T>C (p.Ile799=)	5925	RB1	Likely benign	749392116	RCV002146788\|RCV003161524;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039412	49039412	49039412	-
NM_000321.3(RB1):c.2398C>T (p.Pro800Ser)	5925	RB1	Uncertain significance	1949432999	RCV001896619;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039413	49039413	49039413	-
NM_000321.3(RB1):c.2401G>A (p.Gly801Arg)	5925	RB1	Uncertain significance	2138345814	RCV002009205;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039416	49039416	49039416	-
NM_000321.3(RB1):c.2403del (p.Asn803fs)	5925	RB1	Uncertain significance	-1	RCV003154600;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039418	49039418		-
NM_000321.3(RB1):c.2405_2414del (p.Gly802fs)	5925	RB1	Pathogenic	1593539435	RCV000811806;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039420	49039429	13:g.49039420_49039429del	-
NM_000321.3(RB1):c.2406G>A (p.Gly802=)	5925	RB1	Likely benign	866638680	RCV000550290\|RCV001015430\|RCV003222019;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49039421	49039421	NC_000013.10:g.49039421G>A	ClinGen:CA249310505	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2406G>C (p.Gly802=)	5925	RB1	Likely benign	866638680	RCV001396420;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039421	49039421	49039421	-
NM_000321.3(RB1):c.2408del (p.Asn803fs)	5925	RB1	Pathogenic	1949433098	RCV001037141;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039422	49039422	13:g.49039422_49039422del	-
NM_000321.3(RB1):c.2409C>T (p.Asn803=)	5925	RB1	Likely benign	1379479714	RCV001448431\|RCV002454209;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039424	49039424	13:g.49039424C>T	-
NM_000321.3(RB1):c.2414A>G (p.Tyr805Cys)	5925	RB1	Uncertain significance	-1	RCV002982841;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039429	49039429	NC_000013.10:g.49039429A>G	-
NM_000321.3(RB1):c.2418T>G (p.Ile806Met)	5925	RB1	Uncertain significance	1368593116	RCV001052322;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039433	49039433	13:g.49039433T>G	-
NM_000321.3(RB1):c.2420C>G (p.Ser807Ter)	5925	RB1	Pathogenic	2138345919	RCV001387462\|RCV003120595;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49039435	49039435	49039435	-
NM_000321.3(RB1):c.2421A>G (p.Ser807=)	5925	RB1	Likely benign	2138345927	RCV002203315;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039436	49039436	49039436	-
NM_000321.3(RB1):c.2425C>T (p.Leu809=)	5925	RB1	Likely benign	-1	RCV002842856;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039440	49039440		-
NM_000321.3(RB1):c.2427G>A (p.Leu809=)	5925	RB1	Likely benign	1279093123	RCV002106324\|RCV002443219;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039442	49039442	49039442	-
NM_000321.3(RB1):c.2428A>T (p.Lys810Ter)	5925	RB1	Pathogenic	1949433250	RCV001214682;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039443	49039443	13:g.49039443A>T	-
NM_000321.3(RB1):c.2429_2432dup (p.Ser811fs)	5925	RB1	Pathogenic	2138345982	RCV001523804;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039443	49039444	49039443	-
NM_000321.3(RB1):c.2431A>G (p.Ser811Gly)	5925	RB1	Uncertain significance	1371240619	RCV001015510\|RCV001295727;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039446	49039446	13:g.49039446A>G	-
NM_000321.3(RB1):c.2432G>A (p.Ser811Asn)	5925	RB1	Conflicting interpretations of pathogenicity	1220980701	RCV001015514\|RCV001860796\|RCV003461352;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49039447	49039447	13:g.49039447G>A	-
NM_000321.3(RB1):c.2433T>A (p.Ser811Arg)	5925	RB1	Uncertain significance	-1	RCV003013787;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039448	49039448	NC_000013.10:g.49039448T>A	-
NM_000321.3(RB1):c.2435del (p.Pro812fs)	5925	RB1	Pathogenic	1949433358	RCV001064923;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039449	49039449	13:g.49039449_49039449del	-
NM_000321.3(RB1):c.2436A>G (p.Pro812=)	5925	RB1	Likely benign	1276641790	RCV000528717\|RCV001015530\|RCV001662536;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49039451	49039451	13:g.49039451A>G	ClinGen:CA483740346	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2438A>G (p.Tyr813Cys)	5925	RB1	Uncertain significance	-1	RCV002715945;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039453	49039453	NC_000013.10:g.49039453A>G	-
NM_000321.3(RB1):c.2441A>G (p.Lys814Arg)	5925	RB1	Uncertain significance	1566237785	RCV000709349\|RCV002458329;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039456	49039456	13:g.49039456A>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2441A>C (p.Lys814Thr)	5925	RB1	Uncertain significance	1566237785	RCV001015556\|RCV001302439;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039456	49039456	13:g.49039456A>C	-
NM_000321.3(RB1):c.2442A>C (p.Lys814Asn)	5925	RB1	Uncertain significance	1566237790	RCV000692489\|RCV002458234;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039457	49039457	13:g.49039457A>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2447C>A (p.Ser816Ter)	5925	RB1	Pathogenic	1593539493	RCV000989138;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039462	49039462	13:g.49039462C>A	-
NM_000321.3(RB1):c.2450_2452del (p.Glu817del)	5925	RB1	Uncertain significance	-1	RCV002611370;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039463	49039465	NC_000013.10:g.49039465_49039467del	-
NM_000321.3(RB1):c.2449G>C (p.Glu817Gln)	5925	RB1	Uncertain significance	762271261	RCV001351863;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039464	49039464	49039464	-
NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs)	5925	RB1	Pathogenic	1555294626	RCV000632937;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039465	49039468	13:g.49039466_49039468del	ClinGen:CA658798153	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2450A>G (p.Glu817Gly)	5925	RB1	Uncertain significance	1949433558	RCV001301435;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039465	49039465	49039465	-
NM_000321.3(RB1):c.2453del (p.Gly818fs)	5925	RB1	Pathogenic	587778837	RCV000114695;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039467	49039467	13:g.49039467_49039467del	ClinGen:CA026440	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2453G>A (p.Gly818Asp)	5925	RB1	Uncertain significance	1949433617	RCV001213847\|RCV003346375;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039468	49039468	13:g.49039468G>A	-
NM_000321.3(RB1):c.2455C>T (p.Leu819=)	5925	RB1	Benign/Likely benign	375751988	RCV000464684\|RCV000575614\|RCV001310692;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49039470	49039470	NC_000013.10:g.49039470C>T	ClinGen:CA035586	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2455C>G (p.Leu819Val)	5925	RB1	Benign/Likely benign	375751988	RCV000539011\|RCV000562044\|RCV003153682;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	13	49039470	49039470	13:g.49039470C>G	ClinGen:CA035571	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2457G>A (p.Leu819=)	5925	RB1	Likely benign	1593539513	RCV001493552;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039472	49039472	13:g.49039472G>A	-
NM_000321.3(RB1):c.2460A>T (p.Pro820=)	5925	RB1	Likely benign	1555294628	RCV000553917;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039475	49039475	13:g.49039475A>T	ClinGen:CA483740384	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2461A>G (p.Thr821Ala)	5925	RB1	Uncertain significance	761015353	RCV001208925;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039476	49039476	13:g.49039476A>G	-
NM_000321.3(RB1):c.2463A>G (p.Thr821=)	5925	RB1	Benign/Likely benign	370088029	RCV000399287\|RCV000561473;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039478	49039478	13:g.49039478A>G	ClinGen:CA035665	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2464C>G (p.Pro822Ala)	5925	RB1	Conflicting interpretations of pathogenicity	368413787	RCV000868331\|RCV001015621\|RCV003228999;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49039479	49039479	13:g.49039479C>G	-
NM_000321.3(RB1):c.2473dup (p.Met825fs)	5925	RB1	Pathogenic	1593539538	RCV000801998;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039483	49039484	13:g.49039483_49039484insA	-
NM_000321.3(RB1):c.2472A>G (p.Lys824=)	5925	RB1	Likely benign	2138346192	RCV001463734;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039487	49039487	49039487	-
NM_000321.3(RB1):c.2473A>G (p.Met825Val)	5925	RB1	Uncertain significance	2138346201	RCV001864930;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039488	49039488	49039488	-
NM_000321.3(RB1):c.2475G>A (p.Met825Ile)	5925	RB1	Uncertain significance	1949433927	RCV001308884;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039490	49039490	49039490	-
NM_000321.3(RB1):c.2479C>G (p.Pro827Ala)	5925	RB1	Uncertain significance	1949433950	RCV001322861;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039494	49039494	49039494	-
NM_000321.3(RB1):c.2481A>G (p.Pro827=)	5925	RB1	Likely benign	1949433968	RCV001448902\|RCV002432248;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039496	49039496	49039496	-
NM_000321.3(RB1):c.2484A>G (p.Arg828=)	5925	RB1	Conflicting interpretations of pathogenicity	1949433985	RCV001221521\|RCV003294063;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039499	49039499	13:g.49039499A>G	-
NM_000321.3(RB1):c.2485T>A (p.Ser829Thr)	5925	RB1	Uncertain significance	2138346264	RCV002006960;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039500	49039500	49039500	-
NM_000321.3(RB1):c.2486C>T (p.Ser829Leu)	5925	RB1	Uncertain significance	-1	RCV002295147;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039501	49039501	49039501	-
NM_000321.3(RB1):c.2489+2T>C	5925	RB1	Pathogenic	1555294636	RCV000532339;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039506	49039506	13:g.49039506T>C	ClinGen:CA388168096	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2489+3G>T	5925	RB1	Uncertain significance	1057505320	RCV001346737\|RCV002431977;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49039507	49039507	49039507	-
NM_000321.3(RB1):c.2489+5G>A	5925	RB1	Uncertain significance	1949434078	RCV001045031;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039509	49039509	13:g.49039509G>A	-
NM_000321.3(RB1):c.2489+7G>A	5925	RB1	Likely benign	752607904	RCV000474837;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039511	49039511	NC_000013.10:g.49039511G>A	ClinGen:CA035799	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2489+18A>G	5925	RB1	Likely benign	-1	RCV003092625;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039522	49039522	NC_000013.10:g.49039522A>G	-
NM_000321.3(RB1):c.2489+19G>T	5925	RB1	Benign	-1	RCV002700906;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039523	49039523	NC_000013.10:g.49039523G>T	-
NM_000321.3(RB1):c.2489+20G>C	5925	RB1	Likely benign	-1	RCV003049536;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49039524	49039524	NC_000013.10:g.49039524G>C	-
NM_000321.3(RB1):c.2490-1470G>A	5925	RB1	Conflicting interpretations of pathogenicity	183939957	RCV002255898\|RCV003094216;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49046026	49046026	49046026	-
NM_000321.3(RB1):c.2490-1398A>G	5925	RB1	Pathogenic	587776791	RCV000013972\|RCV003321482;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:CN517202	13	49046098	49046098	13:g.49046098A>G	ClinGen:CA026441,OMIM:614041.0028	C0035335 180200 Retinoblastoma;
NC_000013.10:g.(?_49046098)_(49047536_?)del	5925	RB1	Pathogenic	-1	RCV003111007;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49046098	49047536		-
NC_000013.10:g.(?_49046098)_(49054207_?)del	5925	RB1	Pathogenic	-1	RCV003111014;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49046098	49054207		-
NC_000013.10:g.(?_49046098)_(49054207_?)dup	5925	RB1	Uncertain significance	-1	RCV003111018;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49046098	49054207		-
NM_000321.3(RB1):c.2490-45A>G	5925	RB1	Benign/Likely benign	4151610	RCV000989139\|RCV002067583;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49047451	49047451	13:g.49047451A>G	-
NM_000321.3(RB1):c.2490-15A>C	5925	RB1	Likely benign	772625432	RCV002117708;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047481	49047481	49047481	-
NM_000321.3(RB1):c.2490-15A>G	5925	RB1	Likely benign	-1	RCV002635495;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047481	49047481	NC_000013.10:g.49047481A>G	-
NM_000321.3(RB1):c.2490-10A>C	5925	RB1	Likely benign	2138354548	RCV001441540;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047486	49047486	49047486	-
NM_000321.3(RB1):c.2490-5G>A	5925	RB1	Conflicting interpretations of pathogenicity	1593544633	RCV001015687\|RCV002068917;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047491	49047491	13:g.49047491G>A	-
NM_000321.3(RB1):c.2490-4A>G	5925	RB1	Likely benign	372449026	RCV001478711;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047492	49047492	49047492	-
NM_000321.3(RB1):c.2490-1_2490del	5925	RB1	Pathogenic	1593544647	RCV000794583;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047494	49047495	13:g.49047494_49047495del	-
NM_000321.3(RB1):c.2490-1G>A	5925	RB1	Pathogenic	587778838	RCV000114696;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047495	49047495	13:g.49047495G>A	ClinGen:CA026442	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2491A>G (p.Ile831Val)	5925	RB1	Likely benign	761068783	RCV000467333\|RCV001015689;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047497	49047497	NC_000013.10:g.49047497A>G	ClinGen:CA035903	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2491A>C (p.Ile831Leu)	5925	RB1	Uncertain significance	761068783	RCV001344827;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047497	49047497	49047497	-
NM_000321.3(RB1):c.2497G>A (p.Val833Ile)	5925	RB1	Uncertain significance	2138354621	RCV001863514\|RCV002425113;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047503	49047503	49047503	-
NM_000321.3(RB1):c.2501C>A (p.Ser834Ter)	5925	RB1	Pathogenic	1131690906	RCV000492748\|RCV001228827;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047507	49047507	NC_000013.10:g.49047507C>A	ClinGen:CA388168125	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2501C>T (p.Ser834Leu)	5925	RB1	Uncertain significance	1131690906	RCV000817795;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047507	49047507	13:g.49047507C>T	-
NM_000321.3(RB1):c.2502A>G (p.Ser834=)	5925	RB1	Likely benign	-1	RCV002431111\|RCV003101898;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047508	49047508		-
NM_000321.3(RB1):c.2504T>C (p.Ile835Thr)	5925	RB1	Uncertain significance	-1	RCV002455633\|RCV002464664\|RCV003101901;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047510	49047510	49047510	-
NM_000321.3(RB1):c.2511A>G (p.Glu837=)	5925	RB1	Uncertain significance	1949484299	RCV001039547\|RCV002427496;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047517	49047517	13:g.49047517A>G	-
NM_000321.3(RB1):c.2512T>C (p.Ser838Pro)	5925	RB1	Uncertain significance	1949484337	RCV001231360;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047518	49047518	13:g.49047518T>C	-
NM_000321.3(RB1):c.2513C>G (p.Ser838Ter)	5925	RB1	Pathogenic	1131690908	RCV000702285;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047519	49047519	13:g.49047519C>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2517C>T (p.Phe839=)	5925	RB1	Likely benign	759188465	RCV000542631\|RCV001015826;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047523	49047523	13:g.49047523C>T	ClinGen:CA035947	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2520+1del	5925	RB1	Pathogenic	587776779	RCV000013944\|RCV002426500;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047524	49047524	13:g.49047524_49047524del	ClinGen:CA256698,OMIM:614041.0001	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)	5925	RB1	Conflicting interpretations of pathogenicity	374157786	RCV000232184\|RCV001015828\|RCV003417806;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	13	49047524	49047524	13:g.49047524G>A	ClinGen:CA035961	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2518G>C (p.Gly840Arg)	5925	RB1	Uncertain significance	374157786	RCV001038781\|RCV002427492;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047524	49047524	13:g.49047524G>C	-
NM_000321.3(RB1):c.2518G>T (p.Gly840Trp)	5925	RB1	Uncertain significance	374157786	RCV001301653\|RCV003294225;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047524	49047524	49047524	-
NM_000321.3(RB1):c.2520G>T (p.Gly840=)	5925	RB1	Uncertain significance	1949484533	RCV001350186\|RCV002456522;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047526	49047526	49047526	-
NM_000321.3(RB1):c.2520+1G>A	5925	RB1	Pathogenic	587778850	RCV000114697;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047527	49047527	13:g.49047527G>A	ClinGen:CA026443	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2520+1G>T	5925	RB1	Pathogenic	587778850	RCV000492732\|RCV000686279;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047527	49047527	13:g.49047527G>T	ClinGen:CA388168168	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2520+3_2520+6del	5925	RB1	Pathogenic	1131690858	RCV000492728\|RCV001202042\|RCV002466520;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0018160,MedGen:C0751483, Orphanet:357027	13	49047527	49047530	13:g.49047527_49047530del	ClinGen:CA645369528	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2520+3G>A	5925	RB1	Uncertain significance	868434367	RCV000821913\|RCV002427063;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047529	49047529	13:g.49047529G>A	-
NM_000321.3(RB1):c.2520+4A>G	5925	RB1	Likely pathogenic	1949484627	RCV001221434;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047530	49047530	13:g.49047530A>G	-
NM_000321.3(RB1):c.2520+5G>A	5925	RB1	Pathogenic/Likely pathogenic	1131690881	RCV000492733\|RCV001384071;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047531	49047531	13:g.49047531G>A	ClinGen:CA645369529	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2520+5G>T	5925	RB1	Pathogenic	1131690881	RCV000687155;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047531	49047531	NC_000013.10:g.49047531G>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2520+5G>C	5925	RB1	Pathogenic	1131690881	RCV001384072\|RCV002456599;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49047531	49047531	49047531	-
NM_000321.3(RB1):c.2520+6T>C	5925	RB1	Likely pathogenic	2138354759	RCV001523801;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047532	49047532	49047532	-
NM_000321.3(RB1):c.2520+14_2520+17del	5925	RB1	Likely benign	1949484688	RCV002209572;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047535	49047538	49047534	-
NM_000321.3(RB1):c.2520+15del	5925	RB1	Likely benign	2138354773	RCV002128752;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047539	49047539	49047538	-
NM_000321.3(RB1):c.2520+14T>G	5925	RB1	Likely benign	752189708	RCV002089219;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047540	49047540	49047540	-
NM_000321.3(RB1):c.2520+18A>G	5925	RB1	Likely benign	1403681311	RCV002075141;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49047544	49047544	49047544	-
NM_000321.3(RB1):c.2521-20A>G	5925	RB1	Likely benign	778990487	RCV002038055;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050817	49050817	49050817	-
NM_000321.3(RB1):c.2521-18G>T	5925	RB1	Likely benign	748294918	RCV002116753;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050819	49050819	49050819	-
NM_000321.3(RB1):c.2521-12T>C	5925	RB1	Likely benign	4151623	RCV002109576;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050825	49050825	49050825	-
NM_000321.3(RB1):c.2521-11G>A	5925	RB1	Benign/Likely benign	4151624	RCV000314529\|RCV000586876\|RCV000434717\|RCV002258874;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050826	49050826	13:g.49050826G>A	ClinGen:CA036066	CN517202 not provided;
NC_000013.11:g.(?_48476691)_(48477414_?)del	5925	RB1	Pathogenic	-1	RCV000708332;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050827	49051550		-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2521-10T>A	5925	RB1	Uncertain significance	-1	RCV003100314;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050827	49050827	NC_000013.10:g.49050827T>A	-
NM_000321.3(RB1):c.2521-9A>C	5925	RB1	Likely benign	949077145	RCV000429742\|RCV000462781;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050828	49050828	13:g.49050828A>C	ClinGen:CA16606725	CN169374 not specified;
NM_000321.3(RB1):c.2521-7T>A	5925	RB1	Conflicting interpretations of pathogenicity	371150038	RCV000463858\|RCV002255412;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050830	49050830	NC_000013.10:g.49050830T>A	ClinGen:CA16614065	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2521-4G>T	5925	RB1	Likely benign	902298592	RCV000989140;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050833	49050833	13:g.49050833G>T	ClinGen:CA16614440	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2522C>T (p.Thr841Ile)	5925	RB1	Uncertain significance	1358216534	RCV001366909;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050838	49050838	49050838	-
NM_000321.3(RB1):c.2522C>G (p.Thr841Ser)	5925	RB1	Uncertain significance	-1	RCV002815583;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050838	49050838	NC_000013.10:g.49050838C>G	-
NM_000321.3(RB1):c.2523T>C (p.Thr841=)	5925	RB1	Likely benign	1566240903	RCV002178085;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050839	49050839	49050839	-
NM_000321.3(RB1):c.2525dup (p.Ser842_Glu843insTer)	5925	RB1	Pathogenic	587778851	RCV000114698;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050840	49050841	13:g.49050840_49050841insC	ClinGen:CA269697	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2525_2526del (p.Thr841_Ser842insTer)	5925	RB1	Pathogenic	1566240909	RCV000756594\|RCV003230274;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050840	49050841	NC_000013.10:g.49050841_49050842del	-
NM_000321.3(RB1):c.2527G>C (p.Glu843Gln)	5925	RB1	Uncertain significance	1566240914	RCV000701850;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050843	49050843	NC_000013.10:g.49050843G>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2528A>G (p.Glu843Gly)	5925	RB1	Uncertain significance	1949505926	RCV001203441;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050844	49050844	13:g.49050844A>G	-
NM_000321.3(RB1):c.2528A>T (p.Glu843Val)	5925	RB1	Uncertain significance	1949505926	RCV001248637;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050844	49050844	13:g.49050844A>T	-
NM_000321.3(RB1):c.2533T>C (p.Phe845Leu)	5925	RB1	Uncertain significance	754183765	RCV000575829\|RCV000706270\|RCV001770524;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49050849	49050849	NC_000013.10:g.49050849T>C	ClinGen:CA249314576	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2536C>T (p.Gln846Ter)	5925	RB1	Pathogenic	1231557654	RCV001384073;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050852	49050852	49050852	-
NM_000321.3(RB1):c.2539A>G (p.Lys847Glu)	5925	RB1	Uncertain significance	2138358973	RCV001369387\|RCV003462936;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49050855	49050855	49050855	-
NM_000321.3(RB1):c.2544A>T (p.Ile848=)	5925	RB1	Likely benign	2138358986	RCV002075738;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050860	49050860	49050860	-
NM_000321.3(RB1):c.2552T>C (p.Met851Thr)	5925	RB1	Uncertain significance	1566240932	RCV000699688;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050868	49050868	NC_000013.10:g.49050868T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2555T>G (p.Val852Gly)	5925	RB1	Uncertain significance	-1	RCV002928849;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050871	49050871	NC_000013.10:g.49050871T>G	-
NM_000321.3(RB1):c.2557T>C (p.Cys853Arg)	5925	RB1	Uncertain significance	1295589257	RCV000693294\|RCV003163168;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050873	49050873	NC_000013.10:g.49050873T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2558G>A (p.Cys853Tyr)	5925	RB1	Uncertain significance	1566240940	RCV000761115\|RCV000792181\|RCV001015957;	N	MedGen:C2698314\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050874	49050874	NC_000013.10:g.49050874G>A	-
NM_000321.3(RB1):c.2559T>C (p.Cys853=)	5925	RB1	Likely benign	148327780	RCV000492628\|RCV001395329;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050875	49050875	13:g.49050875T>C	ClinGen:CA036153	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2565C>T (p.Ser855=)	5925	RB1	Likely benign	2138359118	RCV001416268\|RCV002259118;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050881	49050881	49050881	-
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)	5925	RB1	Conflicting interpretations of pathogenicity	149359120	RCV000467622\|RCV000492588\|RCV000761059\|RCV001555707\|RCV001821379;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C2698310\|MedGen:C3661900\|MedGen:CN169374	13	49050882	49050882	NC_000013.10:g.49050882G>A	ClinGen:CA036169	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2566G>T (p.Asp856Tyr)	5925	RB1	Uncertain significance	149359120	RCV001042193\|RCV002258096;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050882	49050882	13:g.49050882G>T	-
NM_000321.3(RB1):c.2566G>C (p.Asp856His)	5925	RB1	Uncertain significance	-1	RCV003012377;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050882	49050882	NC_000013.10:g.49050882G>C	-
NM_000321.3(RB1):c.2567A>G (p.Asp856Gly)	5925	RB1	Uncertain significance	1555295331	RCV000632955;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050883	49050883	NC_000013.10:g.49050883A>G	ClinGen:CA388157275	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu)	5925	RB1	Uncertain significance	1566240957	RCV001015974\|RCV001225078;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050884	49050884	13:g.49050884C>A	-
NM_000321.3(RB1):c.2569C>G (p.Arg857Gly)	5925	RB1	Conflicting interpretations of pathogenicity	1032510984	RCV001339753\|RCV002431949;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050885	49050885	49050885	-
NM_000321.3(RB1):c.2570G>A (p.Arg857His)	5925	RB1	Conflicting interpretations of pathogenicity	144668210	RCV000552996\|RCV000563507\|RCV002510914;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	13	49050886	49050886	NC_000013.10:g.49050886G>A	ClinGen:CA036194	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2583A>G (p.Arg861=)	5925	RB1	Likely benign	-1	RCV003093608;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050899	49050899		-
NM_000321.3(RB1):c.2586T>C (p.Ser862=)	5925	RB1	Likely benign	1593547157	RCV001016022\|RCV001407344;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050902	49050902	13:g.49050902T>C	-
NM_000321.3(RB1):c.2586T>G (p.Ser862Arg)	5925	RB1	Uncertain significance	1593547157	RCV001324747;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050902	49050902	49050902	-
NM_000321.3(RB1):c.2587G>A (p.Ala863Thr)	5925	RB1	Uncertain significance	1949506505	RCV001233492\|RCV002429999;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050903	49050903	13:g.49050903G>A	-
NM_000321.3(RB1):c.2590G>A (p.Glu864Lys)	5925	RB1	Uncertain significance	2138359266	RCV001362054;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050906	49050906	49050906	-
NM_000321.3(RB1):c.2591A>G (p.Glu864Gly)	5925	RB1	Uncertain significance	1949506524	RCV001049945;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050907	49050907	13:g.49050907A>G	-
NM_000321.3(RB1):c.2593G>T (p.Gly865Ter)	5925	RB1	Pathogenic	1949506548	RCV001214983;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050909	49050909	13:g.49050909G>T	-
NM_000321.3(RB1):c.2593G>A (p.Gly865Arg)	5925	RB1	Uncertain significance	1949506548	RCV001235182;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050909	49050909	13:g.49050909G>A	-
NM_000321.3(RB1):c.2593_2594delinsCA (p.Gly865Gln)	5925	RB1	Uncertain significance	2138359294	RCV002015854;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050909	49050910	49050909	-
NM_000321.3(RB1):c.2598C>A (p.Ser866Arg)	5925	RB1	Uncertain significance	1949506601	RCV001308158;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050914	49050914	49050914	-
NM_000321.3(RB1):c.2599A>G (p.Asn867Asp)	5925	RB1	Uncertain significance	1949506622	RCV001109889;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050915	49050915	13:g.49050915A>G	-
NM_000321.3(RB1):c.2601C>G (p.Asn867Lys)	5925	RB1	Uncertain significance	1566240970	RCV000693529;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050917	49050917	NC_000013.10:g.49050917C>G	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2601C>A (p.Asn867Lys)	5925	RB1	Uncertain significance	1566240970	RCV001867217;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050917	49050917	49050917	-
NM_000321.3(RB1):c.2602C>A (p.Pro868Thr)	5925	RB1	Likely benign	1161450606	RCV001340381\|RCV002431953;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050918	49050918	49050918	-
NM_000321.3(RB1):c.2603C>T (p.Pro868Leu)	5925	RB1	Uncertain significance	769539980	RCV001954699;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050919	49050919	49050919	-
NM_000321.3(RB1):c.2604T>C (p.Pro868=)	5925	RB1	Likely benign	-1	RCV002991556\|RCV003170858;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050920	49050920		-
NM_000321.3(RB1):c.2607T>G (p.Pro869=)	5925	RB1	Likely benign	762588468	RCV001016047\|RCV001476878;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050923	49050923	13:g.49050923T>G	-
NM_000321.3(RB1):c.2612C>T (p.Pro871Leu)	5925	RB1	Uncertain significance	1949506762	RCV001315856;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050928	49050928	49050928	-
NM_000321.3(RB1):c.2614C>T (p.Leu872=)	5925	RB1	Likely benign	763673051	RCV001427749\|RCV002438998;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050930	49050930	49050930	-
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro)	5925	RB1	Uncertain significance	1470516350	RCV001016108\|RCV001359224\|RCV003411950;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|	13	49050931	49050931	13:g.49050931T>C	-
NM_000321.3(RB1):c.2616G>A (p.Leu872=)	5925	RB1	Likely benign	-1	RCV003102033\|RCV002452906;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050932	49050932		-
NM_000321.3(RB1):c.2620A>C (p.Lys874Gln)	5925	RB1	Conflicting interpretations of pathogenicity	757818801	RCV000814186\|RCV002433970\|RCV003461220;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49050936	49050936	13:g.49050936A>C	-
NM_000321.3(RB1):c.2623C>T (p.Leu875=)	5925	RB1	Likely benign	1381671623	RCV001461302;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050939	49050939	49050939	-
NM_000321.3(RB1):c.2625A>G (p.Leu875=)	5925	RB1	Likely benign	774463152	RCV001414133\|RCV002438961;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050941	49050941	49050941	-
NM_000321.3(RB1):c.2626C>T (p.Arg876Cys)	5925	RB1	Conflicting interpretations of pathogenicity	143105337	RCV000078638\|RCV000573514\|RCV000810054;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050942	49050942	13:g.49050942C>T	ClinGen:CA026444	C0027672 Hereditary cancer-predisposing syndrome;
NM_000321.3(RB1):c.2627G>A (p.Arg876His)	5925	RB1	Uncertain significance	767232453	RCV000530269\|RCV002431549;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050943	49050943	NC_000013.10:g.49050943G>A	ClinGen:CA036403	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2628C>T (p.Arg876=)	5925	RB1	Likely benign	1593547215	RCV001016087\|RCV001456436;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050944	49050944	13:g.49050944C>T	-
NM_000321.3(RB1):c.2634T>C (p.Asp878=)	5925	RB1	Likely benign	750293921	RCV000458320\|RCV001016182;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050950	49050950	NC_000013.10:g.49050950T>C	ClinGen:CA036418	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2636T>C (p.Ile879Thr)	5925	RB1	Uncertain significance	764140783	RCV000699594\|RCV002458274\|RCV003324789\|RCV003460963;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:15798	13	49050952	49050952	NC_000013.10:g.49050952T>C	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2639A>C (p.Glu880Ala)	5925	RB1	Uncertain significance	1259535894	RCV001362780\|RCV002260704\|RCV002432019;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050955	49050955	49050955	-
NM_000321.3(RB1):c.2642G>C (p.Gly881Ala)	5925	RB1	Uncertain significance	1949507139	RCV001049870\|RCV002429638;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050958	49050958	13:g.49050958G>C	-
NM_000321.3(RB1):c.2643A>C (p.Gly881=)	5925	RB1	Likely benign	1060504826	RCV001421115;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050959	49050959	NC_000013.10:g.49050959A>C	ClinGen:CA16614337	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2652A>C (p.Glu884Asp)	5925	RB1	Benign/Likely benign	765537411	RCV000366807\|RCV002256200;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050968	49050968	13:g.49050968A>C	ClinGen:CA036632	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2652A>G (p.Glu884=)	5925	RB1	Likely benign	765537411	RCV002080145\|RCV002454328;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050968	49050968	49050968	-
NM_000321.3(RB1):c.2653G>A (p.Ala885Thr)	5925	RB1	Uncertain significance	752897010	RCV000559975\|RCV002456068;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050969	49050969	NC_000013.10:g.49050969G>A	ClinGen:CA036655	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2654C>A (p.Ala885Glu)	5925	RB1	Uncertain significance	758494086	RCV000697825;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050970	49050970	NC_000013.10:g.49050970C>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2656G>A (p.Asp886Asn)	5925	RB1	Uncertain significance	1460190600	RCV000693027\|RCV002424638;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050972	49050972	NC_000013.10:g.49050972G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2658T>C (p.Asp886=)	5925	RB1	Likely benign	1179137535	RCV001464922\|RCV003160888;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49050974	49050974	49050974	-
NM_000321.3(RB1):c.2659G>A (p.Gly887Arg)	5925	RB1	Uncertain significance	777789154	RCV001211053;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050975	49050975	13:g.49050975G>A	-
NM_000321.3(RB1):c.2660G>A (p.Gly887Glu)	5925	RB1	Uncertain significance	1566241021	RCV000699975;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050976	49050976	NC_000013.10:g.49050976G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2660G>C (p.Gly887Ala)	5925	RB1	Uncertain significance	1566241021	RCV002010686;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050976	49050976	49050976	-
NM_000321.3(RB1):c.2661A>G (p.Gly887=)	5925	RB1	Likely benign	1593547275	RCV001498927;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050977	49050977	13:g.49050977A>G	-
NM_000321.3(RB1):c.2663G>A (p.Ser888Asn)	5925	RB1	Likely pathogenic	1555295354	RCV000632966;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050979	49050979	13:g.49050979G>A	ClinGen:CA388157668	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2663+1G>T	5925	RB1	Pathogenic	2138359672	RCV001390327;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050980	49050980	49050980	-
NM_000321.3(RB1):c.2663+1G>A	5925	RB1	Pathogenic	2138359672	RCV002272670;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050980	49050980	49050980	-
NM_000321.3(RB1):c.2663+2T>C	5925	RB1	Pathogenic	587778839	RCV000114699\|RCV003237715;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49050981	49050981	13:g.49050981T>C	ClinGen:CA026445	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2663+4G>A	5925	RB1	Uncertain significance	1949507415	RCV001222162;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050983	49050983	13:g.49050983G>A	-
NM_000321.3(RB1):c.2663+6A>G	5925	RB1	Uncertain significance	2138359698	RCV001903459;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050985	49050985	49050985	-
NM_000321.3(RB1):c.2663+8C>A	5925	RB1	Likely benign	747518543	RCV000632968;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050987	49050987	13:g.49050987C>A	ClinGen:CA658798154	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2663+8C>G	5925	RB1	Likely benign	747518543	RCV000632969;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050987	49050987	NC_000013.10:g.49050987C>G	ClinGen:CA036835	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2663+9C>A	5925	RB1	Likely benign	2138359712	RCV002120106;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050988	49050988	49050988	-
NM_000321.3(RB1):c.2663+9C>G	5925	RB1	Likely benign	-1	RCV002876690;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050988	49050988	NC_000013.10:g.49050988C>G	-
NM_000321.3(RB1):c.2663+10A>G	5925	RB1	Likely benign	1179685157	RCV001398339;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050989	49050989	49050989	-
NM_000321.3(RB1):c.2663+16G>A	5925	RB1	Likely benign	-1	RCV002594127;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050995	49050995	NC_000013.10:g.49050995G>A	-
NM_000321.3(RB1):c.2663+18A>G	5925	RB1	Likely benign	781533642	RCV002220733;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49050997	49050997	49050997	-
NM_000321.3(RB1):c.2663+33C>T	5925	RB1	Benign	3020646	RCV000242667\|RCV001640479\|RCV001795389;	N	MedGen:CN169374\|MedGen:C3661900\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051012	49051012	NC_000013.10:g.49051012C>T	ClinGen:CA036765	CN169374 not specified;
NM_000321.3(RB1):c.2664-10dup	5925	RB1	Benign	-1	RCV003079802;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051474	49051475	NC_000013.10:g.49051481dup	-
NM_000321.3(RB1):c.2664-10T>A	5925	RB1	Benign	3092904	RCV000078639\|RCV000262633\|RCV000590301;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49051481	49051481	13:g.49051481T>A	ClinGen:CA026446	CN517202 not provided;
NM_000321.3(RB1):c.2664-9A>C	5925	RB1	Likely benign	369154092	RCV000632971;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051482	49051482	13:g.49051482A>C	ClinGen:CA036939	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2670T>C (p.His890=)	5925	RB1	Likely benign	758547395	RCV002152586\|RCV002434524;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49051497	49051497	49051497	-
NM_000321.3(RB1):c.2672T>C (p.Leu891Pro)	5925	RB1	Uncertain significance	-1	RCV002428816\|RCV003130716;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051499	49051499	49051499	-
NM_000321.3(RB1):c.2674C>T (p.Pro892Ser)	5925	RB1	Uncertain significance	-1	RCV002428833\|RCV003230296;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051501	49051501	49051501	-
NM_000321.3(RB1):c.2677G>A (p.Gly893Arg)	5925	RB1	Uncertain significance	1566241168	RCV000692549;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051504	49051504	NC_000013.10:g.49051504G>A	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2678G>T (p.Gly893Val)	5925	RB1	Uncertain significance	-1	RCV003065017;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051505	49051505	NC_000013.10:g.49051505G>T	-
NM_000321.3(RB1):c.2679A>G (p.Gly893=)	5925	RB1	Likely benign	751718011	RCV001016289\|RCV001472389;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051506	49051506	13:g.49051506A>G	-
NM_000321.3(RB1):c.2685C>G (p.Ser895=)	5925	RB1	Likely benign	2138360868	RCV001416291\|RCV002456671;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49051512	49051512	49051512	-
NM_000321.3(RB1):c.2687A>G (p.Lys896Arg)	5925	RB1	Uncertain significance	2138360885	RCV001967730;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051514	49051514	49051514	-
NM_000321.3(RB1):c.2692C>T (p.Gln898Ter)	5925	RB1	Uncertain significance	1566241180	RCV000706319;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051519	49051519	13:g.49051519C>T	-	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2694G>T (p.Gln898His)	5925	RB1	Uncertain significance	757275103	RCV000544257\|RCV003470732;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49051521	49051521	NC_000013.10:g.49051521G>T	ClinGen:CA037046	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2694G>A (p.Gln898=)	5925	RB1	Likely benign	757275103	RCV001441837\|RCV002439039;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49051521	49051521	49051521	-
NM_000321.3(RB1):c.2704G>A (p.Ala902Thr)	5925	RB1	Uncertain significance	-1	RCV002705257\|RCV003308228;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49051531	49051531	NC_000013.10:g.49051531G>A	-
NM_000321.3(RB1):c.2705C>A (p.Ala902Glu)	5925	RB1	Uncertain significance	781740936	RCV001930960;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051532	49051532	49051532	-
NM_000321.3(RB1):c.2712G>T (p.Met904Ile)	5925	RB1	Conflicting interpretations of pathogenicity	1461167778	RCV000537562\|RCV001016379;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49051539	49051539	13:g.49051539G>T	ClinGen:CA388157943	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2713+7A>C	5925	RB1	Likely benign	1593547664	RCV000867703;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051547	49051547	13:g.49051547A>C	-
NM_000321.3(RB1):c.2713+14del	5925	RB1	Benign	2138361049	RCV001512171;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051549	49051549	49051548	-
NM_000321.3(RB1):c.2713+9T>C	5925	RB1	Likely benign	2138361042	RCV002035278;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051549	49051549	49051549	-
NM_000321.3(RB1):c.2713+9T>A	5925	RB1	Likely benign	2138361042	RCV002153207;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051549	49051549	49051549	-
NM_000321.3(RB1):c.2713+16A>T	5925	RB1	Likely benign	1949510698	RCV002138137;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051556	49051556	49051556	-
NM_000321.3(RB1):c.2713+16A>G	5925	RB1	Likely benign	-1	RCV002847921;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051556	49051556	NC_000013.10:g.49051556A>G	-
NM_000321.3(RB1):c.2713+17C>A	5925	RB1	Likely benign	746335500	RCV002146844;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051557	49051557	49051557	-
NM_000321.3(RB1):c.2713+17C>T	5925	RB1	Likely benign	-1	RCV002633583;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051557	49051557	NC_000013.10:g.49051557C>T	-
NM_000321.3(RB1):c.2713+18C>T	5925	RB1	Likely benign	1366862461	RCV002105050;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051558	49051558	49051558	-
NM_000321.3(RB1):c.2713+20del	5925	RB1	Likely benign	1264547798	RCV002178390;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49051559	49051559	49051558	-
NM_000321.3(RB1):c.2714-20G>C	5925	RB1	Likely benign	914574679	RCV002208337;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054114	49054114	49054114	-
NM_000321.3(RB1):c.2714-20G>T	5925	RB1	Likely benign	914574679	RCV002122590;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054114	49054114	49054114	-
NM_000321.3(RB1):c.2714-16_2714-14del	5925	RB1	Uncertain significance	-1	RCV003053177;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054115	49054117	NC_000013.10:g.49054115TTC[1]	-
NM_000321.3(RB1):c.2714-18T>C	5925	RB1	Likely benign	140331128	RCV002097564;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054116	49054116	49054116	-
NM_000321.3(RB1):c.2714-14C>T	5925	RB1	Likely benign	-1	RCV003070490;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054120	49054120	NC_000013.10:g.49054120C>T	-
NM_000321.3(RB1):c.2714-13A>G	5925	RB1	Likely benign	370213866	RCV001946816;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054121	49054121	49054121	-
NM_000321.3(RB1):c.2714-12T>A	5925	RB1	Conflicting interpretations of pathogenicity	759312873	RCV002103556\|RCV002258379;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054122	49054122	49054122	-
NM_000321.3(RB1):c.2714-11C>T	5925	RB1	Benign	764362157	RCV002098740;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054123	49054123	49054123	-
NM_000321.3(RB1):c.2714-10C>T	5925	RB1	Likely benign	1060504825	RCV000827277\|RCV001086985;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054124	49054124	NC_000013.10:g.49054124C>T	ClinGen:CA16614071	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2714-5del	5925	RB1	Likely benign	2138364308	RCV002215971;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054125	49054125	49054124	-
NM_000321.3(RB1):c.2714-7T>C	5925	RB1	Conflicting interpretations of pathogenicity	751697681	RCV000973882\|RCV002256637;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054127	49054127	13:g.49054127T>C	-
NM_000321.3(RB1):c.2714-7T>G	5925	RB1	Likely benign	751697681	RCV001499968;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054127	49054127	49054127	-
NM_000321.3(RB1):c.2714-4C>T	5925	RB1	Conflicting interpretations of pathogenicity	768351559	RCV001454236\|RCV002432260;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054130	49054130	49054130	-
NM_000321.3(RB1):c.2714-4C>G	5925	RB1	Likely benign	768351559	RCV001490370;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054130	49054130	49054130	-
NM_000321.3(RB1):c.2718T>C (p.Ser906=)	5925	RB1	Likely benign	2138364350	RCV002199318;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054138	49054138	49054138	-
NM_000321.3(RB1):c.2726C>A (p.Thr909Lys)	5925	RB1	Likely benign	761999108	RCV000632943\|RCV001016407;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054146	49054146	NC_000013.10:g.49054146C>A	ClinGen:CA037358	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2726C>T (p.Thr909Ile)	5925	RB1	Uncertain significance	761999108	RCV001315389\|RCV002431895;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054146	49054146	49054146	-
NM_000321.3(RB1):c.2729G>A (p.Arg910Gln)	5925	RB1	Uncertain significance	1360367329	RCV000808820\|RCV003344066\|RCV003467429;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49054149	49054149	13:g.49054149G>A	-
NM_000321.3(RB1):c.2733G>T (p.Met911Ile)	5925	RB1	Uncertain significance	2138364425	RCV001884811;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054153	49054153	49054153	-
NM_000321.3(RB1):c.2735A>G (p.Gln912Arg)	5925	RB1	Uncertain significance	1949528429	RCV001314437\|RCV003339590;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054155	49054155	49054155	-
NM_000321.3(RB1):c.2738A>G (p.Lys913Arg)	5925	RB1	Uncertain significance	2138364453	RCV001867034;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054158	49054158	49054158	-
NM_000321.3(RB1):c.2746A>C (p.Met916Leu)	5925	RB1	Uncertain significance	1949528459	RCV001923018\|RCV003464228;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49054166	49054166	49054166	-
NM_000321.3(RB1):c.2750A>G (p.Asn917Ser)	5925	RB1	Uncertain significance	1475201975	RCV001962427\|RCV003303450;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054170	49054170	49054170	-
NM_000321.3(RB1):c.2751T>C (p.Asn917=)	5925	RB1	Likely benign	-1	RCV003040693;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054171	49054171		-
NM_000321.3(RB1):c.2754T>C (p.Asp918=)	5925	RB1	Likely benign	878853951	RCV000233911\|RCV001016507;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054174	49054174	NC_000013.10:g.49054174T>C	ClinGen:CA10583162	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2755A>G (p.Ser919Gly)	5925	RB1	Uncertain significance	1555295597	RCV000559312\|RCV002438314;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054175	49054175	13:g.49054175A>G	ClinGen:CA388158459	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2757C>T (p.Ser919=)	5925	RB1	Likely benign	1060504824	RCV001485093;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054177	49054177	NC_000013.10:g.49054177C>T	ClinGen:CA16614072	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.2759T>C (p.Met920Thr)	5925	RB1	Conflicting interpretations of pathogenicity	148501460	RCV001016519\|RCV001233281;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054179	49054179	13:g.49054179T>C	-
NM_000321.3(RB1):c.2760G>A (p.Met920Ile)	5925	RB1	Uncertain significance	1949528633	RCV001318589;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054180	49054180	49054180	-
NM_000321.3(RB1):c.2761G>A (p.Asp921Asn)	5925	RB1	Uncertain significance	1949528654	RCV001067412;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054181	49054181	13:g.49054181G>A	-
NM_000321.3(RB1):c.2764A>G (p.Thr922Ala)	5925	RB1	Uncertain significance	1949528678	RCV001067010\|RCV002436666;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054184	49054184	13:g.49054184A>G	-
NM_000321.3(RB1):c.2768C>T (p.Ser923Leu)	5925	RB1	Uncertain significance	2138364560	RCV001986797;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054188	49054188	49054188	-
NM_000321.3(RB1):c.2772C>A (p.Asn924Lys)	5925	RB1	Uncertain significance	1949528716	RCV001047703;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054192	49054192	13:g.49054192C>A	-
NM_000321.3(RB1):c.2772C>T (p.Asn924=)	5925	RB1	Likely benign	1949528716	RCV001484302\|RCV002439158;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054192	49054192	49054192	-
NM_000321.3(RB1):c.2774A>C (p.Lys925Thr)	5925	RB1	Uncertain significance	750946437	RCV001315901;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054194	49054194	49054194	-
NM_000321.3(RB1):c.2774A>G (p.Lys925Arg)	5925	RB1	Conflicting interpretations of pathogenicity	750946437	RCV002034922\|RCV003163999;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054194	49054194	49054194	-
NM_000321.3(RB1):c.2775G>A (p.Lys925=)	5925	RB1	Likely benign	936709957	RCV001016554\|RCV002068935;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054195	49054195	13:g.49054195G>A	-
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly)	5925	RB1	Uncertain significance	1593549718	RCV001016560\|RCV001860835;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054197	49054197	13:g.49054197A>G	-
NM_000321.3(RB1):c.2778A>C (p.Glu926Asp)	5925	RB1	Uncertain significance	1433767914	RCV001067738\|RCV002436669;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	13	49054198	49054198	13:g.49054198A>C	-
NM_000321.3(RB1):c.2779G>C (p.Glu927Gln)	5925	RB1	Uncertain significance	1949528826	RCV001053468\|RCV003462558;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	13	49054199	49054199	13:g.49054199G>C	-
NM_000321.3(RB1):c.2779G>A (p.Glu927Lys)	5925	RB1	Uncertain significance	1949528826	RCV001909816;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054199	49054199	49054199	-
NM_000321.3(RB1):c.*68A>G	5925	RB1	Uncertain significance	547352312	RCV001109890;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054275	49054275	13:g.49054275A>G	-
NM_000321.3(RB1):c.*162T>G	5925	RB1	Uncertain significance	886050273	RCV000320122;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054369	49054369	13:g.49054369T>G	ClinGen:CA10643564	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*172G>A	5925	RB1	Benign	143536240	RCV000354001;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054379	49054379	13:g.49054379G>A	ClinGen:CA10644679	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*184A>T	5925	RB1	Likely benign	4151630	RCV000261265\|RCV001582950;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790\|MedGen:C3661900	13	49054391	49054391	13:g.49054391A>T	ClinGen:CA10639638	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*249G>T	5925	RB1	Uncertain significance	1949530910	RCV001110674;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054456	49054456	13:g.49054456G>T	-
NM_000321.3(RB1):c.*392T>G	5925	RB1	Uncertain significance	1949531949	RCV001110675;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054599	49054599	13:g.49054599T>G	-
NM_000321.3(RB1):c.*398G>T	5925	RB1	Uncertain significance	886050274	RCV000323712;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054605	49054605	13:g.49054605G>T	ClinGen:CA10639639	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*413T>G	5925	RB1	Uncertain significance	886050275	RCV000380606;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054620	49054620	13:g.49054620T>G	ClinGen:CA10634448	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*435A>G	5925	RB1	Uncertain significance	886050276	RCV000283736;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054642	49054642	NC_000013.10:g.49054642A>G	ClinGen:CA10643565	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*444ATCT[1]	5925	RB1	Uncertain significance	746086958	RCV000322464;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054649	49054652	NC_000013.10:g.49054651ATCT[1]	ClinGen:CA10639640	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*463T>A	5925	RB1	Benign	4151631	RCV000383633;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054670	49054670	NC_000013.10:g.49054670T>A	ClinGen:CA10639641	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*512A>C	5925	RB1	Uncertain significance	886050278	RCV000291560;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054719	49054719	NC_000013.10:g.49054719A>C	ClinGen:CA10643579	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*573A>G	5925	RB1	Uncertain significance	1450335586	RCV001110676;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054780	49054780	13:g.49054780A>G	-
NM_000321.3(RB1):c.*604A>T	5925	RB1	Uncertain significance	886050279	RCV000344280;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054811	49054811	NC_000013.10:g.49054811A>T	ClinGen:CA10643581	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*673G>T	5925	RB1	Uncertain significance	886050280	RCV000405520;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054880	49054880	NC_000013.10:g.49054880G>T	ClinGen:CA10639642	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*703G>T	5925	RB1	Benign	139023385	RCV000295264;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054910	49054910	NC_000013.10:g.49054910G>T	ClinGen:CA10639644	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*788C>A	5925	RB1	Uncertain significance	886050281	RCV000352496;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49054995	49054995	NC_000013.10:g.49054995C>A	ClinGen:CA10643584	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*964C>G	5925	RB1	Benign	4151633	RCV000397332;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055171	49055171	NC_000013.10:g.49055171C>G	ClinGen:CA10639655	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*998G>A	5925	RB1	Uncertain significance	886050282	RCV000312985;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055205	49055205	NC_000013.10:g.49055205G>A	ClinGen:CA10634452	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*1022C>T	5925	RB1	Uncertain significance	886050283	RCV000336883;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055229	49055229	NC_000013.10:g.49055229C>T	ClinGen:CA10644680	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*1044T>A	5925	RB1	Uncertain significance	1043605723	RCV001112653;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055251	49055251	13:g.49055251T>A	-
NM_000321.3(RB1):c.*1268G>A	5925	RB1	Benign	571383547	RCV000399782;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055475	49055475	NC_000013.10:g.49055475G>A	ClinGen:CA10643585	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*1408C>T	5925	RB1	Uncertain significance	1315102846	RCV001112654;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055615	49055615	13:g.49055615C>T	-
NM_000321.3(RB1):c.*1459T>C	5925	RB1	Uncertain significance	886050284	RCV000297015;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055666	49055666	NC_000013.10:g.49055666T>C	ClinGen:CA10644681	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.1527_1528del	5925	RB1	Likely benign	540108904	RCV000354233;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055734	49055735	NC_000013.10:g.49055734_49055735del	ClinGen:CA10643586	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*1540A>G	5925	RB1	Uncertain significance	768155412	RCV000266363;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055747	49055747	NC_000013.10:g.49055747A>G	ClinGen:CA10644689	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*1544T>C	5925	RB1	Uncertain significance	886050285	RCV000305091;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055751	49055751	NC_000013.10:g.49055751T>C	ClinGen:CA10644693	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*1635T>A	5925	RB1	Uncertain significance	886050286	RCV000357621;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055842	49055842	NC_000013.10:g.49055842T>A	ClinGen:CA10639656	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*1687T>C	5925	RB1	Benign	4151635	RCV000265257;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055894	49055894	NC_000013.10:g.49055894T>C	ClinGen:CA10643588	C0035335 180200 Retinoblastoma;
NM_000321.3(RB1):c.*1707C>T	5925	RB1	Uncertain significance	755984043	RCV001114009;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055914	49055914	13:g.49055914C>T	-
NM_000321.3(RB1):c.*1748A>T	5925	RB1	Benign	556205552	RCV001114010;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055955	49055955	13:g.49055955A>T	-
NM_000321.3(RB1):c.*1771A>G	5925	RB1	Benign	577749913	RCV001114011;	N	Human Phenotype Ontology:HP:0009919,MONDO:MONDO:0008380,MeSH:D012175,MedGen:C0035335,OMIM:180200, Orphanet:790	13	49055978	49055978	13:g.49055978A>G	-

MSeqDR Portal

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