ClinVar Miner

List of variants in gene RB1 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 254
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HGVS dbSNP
NC_000013.10:g.(?_48878039)_(48881552_?)del
NC_000013.10:g.(?_48881406)_(48923169_?)del
NC_000013.10:g.(?_48881410)_(48923165_?)del
NC_000013.10:g.(?_48916735)_(48919335_?)del
NC_000013.10:g.(?_48934143)_(48942750_?)del
NC_000013.10:g.(?_48951044)_(48954230_?)del
NC_000013.10:g.(?_49039128)_(49039510_?)del
NC_000013.10:g.(?_49050827)_(49051550_?)del
NG_009009.1:g.154289dupA rs1566233014
NG_009009.1:g.1662319T>A
NG_009009.1:g.166501C>G
NG_009009.1:g.5168-?_5303+?(2)
NM_000321.2(RB1):c.-189G>T rs387906520
NM_000321.2(RB1):c.-198G>A rs387906521
NM_000321.2(RB1):c.1021A>T (p.Lys341Ter) rs587778855
NM_000321.2(RB1):c.1024del (p.Thr342fs) rs587778844
NM_000321.2(RB1):c.1027del (p.Leu343fs) rs1131690873
NM_000321.2(RB1):c.103C>T (p.Gln35Ter) rs587778869
NM_000321.2(RB1):c.1049+1G>A rs587776782
NM_000321.2(RB1):c.1049+1G>T rs587776782
NM_000321.2(RB1):c.1058_1059CA[1] (p.Gln354fs) rs587778829
NM_000321.2(RB1):c.1062_1063GA[1] (p.Arg355fs) rs1131690861
NM_000321.2(RB1):c.106del (p.Asp36fs) rs1131690913
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1072_1074delinsGG (p.Arg358fs) rs1131690872
NM_000321.2(RB1):c.1128-2A>G rs1131690892
NM_000321.2(RB1):c.113_115delinsCT (p.Gly38fs) rs886037649
NM_000321.2(RB1):c.1147C>T (p.Gln383Ter) rs1131690846
NM_000321.2(RB1):c.1147dup (p.Gln383fs) rs587778830
NM_000321.2(RB1):c.1154T>G (p.Leu385Ter) rs878853947
NM_000321.2(RB1):c.1166T>A (p.Leu389Ter) rs587778845
NM_000321.2(RB1):c.1183C>T (p.Gln395Ter) rs1566196458
NM_000321.2(RB1):c.1191del (p.Glu398fs) rs727504121
NM_000321.2(RB1):c.1215+1G>A rs587776783
NM_000321.2(RB1):c.1216-1G>A rs587778831
NM_000321.2(RB1):c.1229del (p.Asn410fs) rs1131690897
NM_000321.2(RB1):c.1239_1240del (p.Ser414fs) rs1555286220
NM_000321.2(RB1):c.1251_1252del (p.Arg418fs) rs1131690889
NM_000321.2(RB1):c.1278dup (p.Lys427Ter) rs1555286236
NM_000321.2(RB1):c.1294A>T (p.Lys432Ter) rs1566197747
NM_000321.2(RB1):c.1321dup (p.Ile441fs) rs1131690875
NM_000321.2(RB1):c.1328C>A (p.Ser443Ter) rs1060503079
NM_000321.2(RB1):c.1331_1332dup (p.Arg445fs)
NM_000321.2(RB1):c.1332+1G>A rs587778846
NM_000321.2(RB1):c.1332+1G>T rs587778846
NM_000321.2(RB1):c.1332G>C (p.Gln444His) rs1555286250
NM_000321.2(RB1):c.1333-2A>G rs1555286503
NM_000321.2(RB1):c.1333C>T (p.Arg445Ter) rs3092891
NM_000321.2(RB1):c.1345G>A (p.Gly449Arg) rs1131690851
NM_000321.2(RB1):c.1346G>T (p.Gly449Val) rs587778847
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.137+1G>T rs1131690855
NM_000321.2(RB1):c.1372G>T (p.Glu458Ter) rs1131690884
NM_000321.2(RB1):c.1389+1G>C
NM_000321.2(RB1):c.1389+5G>A rs1131690859
NM_000321.2(RB1):c.1390-2A>G rs1555286568
NM_000321.2(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.2(RB1):c.1402_1412dup (p.Gln471Hisfs) rs797044649
NM_000321.2(RB1):c.1421+12_1421+32del rs587781256
NM_000321.2(RB1):c.1421+1del rs1555286576
NM_000321.2(RB1):c.1422-1G>A rs1461382798
NM_000321.2(RB1):c.1436_1438ACA[1] (p.Asn480del) rs587776788
NM_000321.2(RB1):c.1445_1446del (p.Phe482fs) rs1566199059
NM_000321.2(RB1):c.1447del (p.His483fs) rs1131690910
NM_000321.2(RB1):c.1456_1457del (p.Leu486fs) rs587778832
NM_000321.2(RB1):c.1458del (p.Leu486fs) rs1555286611
NM_000321.2(RB1):c.1472T>C (p.Leu491Pro) rs587778848
NM_000321.2(RB1):c.1499-2A>C rs1258442224
NM_000321.2(RB1):c.1502_1514del (p.Ser501fs) rs1131690856
NM_000321.2(RB1):c.1510C>T (p.Gln504Ter) rs886043247
NM_000321.2(RB1):c.1512_1513del (p.Asn505fs)
NM_000321.2(RB1):c.1575del (p.Phe526fs) rs1131690876
NM_000321.2(RB1):c.1585dup (p.Tyr529fs) rs398123332
NM_000321.2(RB1):c.1625T>A (p.Leu542Ter)
NM_000321.2(RB1):c.1629_1630del (p.Glu545fs)
NM_000321.2(RB1):c.1633_1640del (p.Glu545fs) rs1555286695
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.1659T>A (p.Cys553Ter)
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1673_1674dup (p.Glu559fs) rs1555286707
NM_000321.2(RB1):c.1686dup (p.Trp563fs)
NM_000321.2(RB1):c.1688G>A (p.Trp563Ter) rs587778863
NM_000321.2(RB1):c.1695+1G>A rs587778857
NM_000321.2(RB1):c.1695+3A>C rs1131690870
NM_000321.2(RB1):c.1696-12T>G rs1060503088
NM_000321.2(RB1):c.1696-1G>A rs794727199
NM_000321.2(RB1):c.1700C>T (p.Ser567Leu) rs137853292
NM_000321.2(RB1):c.1706del (p.Leu569fs) rs1131690842
NM_000321.2(RB1):c.1723C>T (p.Gln575Ter) rs587778864
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.1738G>T (p.Glu580Ter) rs587778858
NM_000321.2(RB1):c.1760_1769del (p.Glu587fs) rs587776784
NM_000321.2(RB1):c.1789C>T (p.Gln597Ter) rs1566233076
NM_000321.2(RB1):c.1811del (p.Asp604fs) rs1131690893
NM_000321.2(RB1):c.1814+2T>G rs1131690899
NM_000321.2(RB1):c.1818T>A (p.Tyr606Ter) rs137853297
NM_000321.2(RB1):c.1907del (p.Phe636fs) rs587781257
NM_000321.2(RB1):c.1909C>T (p.Gln637Ter) rs587778833
NM_000321.2(RB1):c.1925T>A (p.Leu642Ter) rs587778865
NM_000321.2(RB1):c.1927A>G (p.Lys643Glu) rs587778866
NM_000321.2(RB1):c.1949_1957del (p.Phe650_Lys653delinsTer) rs587776785
NM_000321.2(RB1):c.1950_1953del (p.Phe650fs)
NM_000321.2(RB1):c.1959dup (p.Val654fs) rs1566234123
NM_000321.2(RB1):c.1960+2T>C rs587776780
NM_000321.2(RB1):c.1960+5G>A rs587778871
NM_000321.2(RB1):c.1960+5G>C rs587778871
NM_000321.2(RB1):c.1960G>C (p.Val654Leu) rs483352690
NM_000321.2(RB1):c.1960_1960+1insC
NM_000321.2(RB1):c.1961-2A>T rs587778867
NM_000321.2(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.2(RB1):c.1978_1996del (p.Leu660fs)
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000321.2(RB1):c.19_21delinsGG (p.Arg7fs) rs1131690845
NM_000321.2(RB1):c.19dup (p.Arg7fs) rs1131690852
NM_000321.2(RB1):c.2007_2010TCTG[1] (p.Glu672fs) rs1131690885
NM_000321.2(RB1):c.2014G>T (p.Glu672Ter) rs1131690903
NM_000321.2(RB1):c.2023G>T (p.Glu675Ter) rs137853295
NM_000321.2(RB1):c.2029G>T (p.Glu677Ter) rs1060503067
NM_000321.2(RB1):c.2053C>T (p.Gln685Ter) rs878853949
NM_000321.2(RB1):c.2055del (p.Gln685fs) rs1131690844
NM_000321.2(RB1):c.2065C>T (p.Gln689Ter) rs1566235470
NM_000321.2(RB1):c.2067_2079delinsCAC (p.Gln689fs) rs398123333
NM_000321.2(RB1):c.2101G>A (p.Asp701Asn) rs587778859
NM_000321.2(RB1):c.2104C>T (p.Gln702Ter) rs1131690865
NM_000321.2(RB1):c.2105A>G (p.Gln702Arg) rs1131690857
NM_000321.2(RB1):c.2106+2T>C rs1566235515
NM_000321.2(RB1):c.2107-1G>C rs587778860
NM_000321.2(RB1):c.2107-2A>G
NM_000321.2(RB1):c.211_212AG[4] (p.Arg73fs) rs587778862
NM_000321.2(RB1):c.2128_2132del (p.Gly710fs) rs1131690896
NM_000321.2(RB1):c.2131dup (p.Ile711fs)
NM_000321.2(RB1):c.2134T>C (p.Cys712Arg) rs137853296
NM_000321.2(RB1):c.2160_2167delinsC (p.Lys720fs)
NM_000321.2(RB1):c.2164A>T (p.Lys722Ter) rs587778849
NM_000321.2(RB1):c.2172dup (p.Val725fs) rs1566237098
NM_000321.2(RB1):c.217del (p.Arg73fs) rs587778840
NM_000321.2(RB1):c.2194_2197del (p.Pro732fs) rs1060503075
NM_000321.2(RB1):c.2197C>T (p.His733Tyr) rs587778835
NM_000321.2(RB1):c.2206C>T (p.Gln736Ter)
NM_000321.2(RB1):c.2209G>T (p.Glu737Ter) rs587778868
NM_000321.2(RB1):c.2211G>A (p.Glu737=) rs587776787
NM_000321.2(RB1):c.2211G>T (p.Glu737Asp) rs587776787
NM_000321.2(RB1):c.2212-1G>A rs587776786
NM_000321.2(RB1):c.2228_2231dup (p.Lys745fs) rs587778836
NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.2(RB1):c.2244del (p.Glu748fs) rs587776781
NM_000321.2(RB1):c.2247T>A (p.Tyr749Ter) rs587778861
NM_000321.2(RB1):c.2247_2248insAA (p.Asp750fs) rs1555294600
NM_000321.2(RB1):c.227_228dup (p.Thr77Ter) rs587778824
NM_000321.2(RB1):c.2284C>T (p.Gln762Ter)
NM_000321.2(RB1):c.2299_2302del (p.Asn767fs) rs1131690894
NM_000321.2(RB1):c.2325+1G>A rs1131690882
NM_000321.2(RB1):c.2325+5G>A rs886042249
NM_000321.2(RB1):c.2339C>G (p.Ser780Ter)
NM_000321.2(RB1):c.2359C>T (p.Arg787Ter) rs137853293
NM_000321.2(RB1):c.2370C>A (p.Tyr790Ter) rs794727372
NM_000321.2(RB1):c.2405_2414del (p.Gly802fs)
NM_000321.2(RB1):c.2413_2420del (p.Tyr805fs) rs1131690868
NM_000321.2(RB1):c.2439T>A (p.Tyr813Ter) rs774744607
NM_000321.2(RB1):c.2439T>G (p.Tyr813Ter) rs774744607
NM_000321.2(RB1):c.2450_2453delinsTTT (p.Glu817fs) rs1555294626
NM_000321.2(RB1):c.2453del (p.Gly818fs) rs587778837
NM_000321.2(RB1):c.2465del (p.Pro822fs) rs1131690866
NM_000321.2(RB1):c.2473dup (p.Met825fs)
NM_000321.2(RB1):c.2488_2489+7del rs1555294634
NM_000321.2(RB1):c.2489+1G>A rs764754259
NM_000321.2(RB1):c.2489+1G>C rs764754259
NM_000321.2(RB1):c.2490-1398A>G rs587776791
NM_000321.2(RB1):c.2490-1G>A rs587778838
NM_000321.2(RB1):c.2490-1_2490del
NM_000321.2(RB1):c.2501C>A (p.Ser834Ter) rs1131690906
NM_000321.2(RB1):c.2513C>A (p.Ser838Ter) rs1131690908
NM_000321.2(RB1):c.2513C>G (p.Ser838Ter)
NM_000321.2(RB1):c.2520+1G>A rs587778850
NM_000321.2(RB1):c.2520+1G>T rs587778850
NM_000321.2(RB1):c.2520+1del rs587776779
NM_000321.2(RB1):c.2520+3_2520+6del rs1131690858
NM_000321.2(RB1):c.2520+5G>T
NM_000321.2(RB1):c.2525_2526del (p.Thr841_Ser842insTer) rs1566240909
NM_000321.2(RB1):c.2525dup (p.Ser842_Glu843insTer) rs587778851
NM_000321.2(RB1):c.2548C>T (p.Gln850Ter) rs886042935
NM_000321.2(RB1):c.264+1G>A rs1131690907
NM_000321.2(RB1):c.2663+2T>C rs587778839
NM_000321.2(RB1):c.272_276del (p.Tyr91fs)
NM_000321.2(RB1):c.277C>T (p.Gln93Ter) rs1131690915
NM_000321.2(RB1):c.281dup (p.Lys95fs) rs1131690862
NM_000321.2(RB1):c.283A>T (p.Lys95Ter) rs1555282775
NM_000321.2(RB1):c.297G>A (p.Trp99Ter) rs794727481
NM_000321.2(RB1):c.297_298insA (p.Gly100fs) rs1566186087
NM_000321.2(RB1):c.305_306del (p.Cys102fs) rs587778825
NM_000321.2(RB1):c.36del (p.Ala13fs) rs1566174065
NM_000321.2(RB1):c.371_372del (p.Ile124fs) rs1566186125
NM_000321.2(RB1):c.376del (p.Ile126fs) rs886042357
NM_000321.2(RB1):c.37_65del (p.Ala13fs) rs1064792974
NM_000321.2(RB1):c.380+1G>A rs1131690902
NM_000321.2(RB1):c.380+3A>T rs1555282811
NM_000321.2(RB1):c.381-1G>A rs1566186836
NM_000321.2(RB1):c.388A>T (p.Lys130Ter) rs1566186840
NM_000321.2(RB1):c.396del (p.Phe132fs) rs886043313
NM_000321.2(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.2(RB1):c.434del (p.Asp145fs) rs1131690912
NM_000321.2(RB1):c.438_441del (p.Asn146fs) rs587778841
NM_000321.2(RB1):c.43_65dup (p.Pro23fs) rs587776790
NM_000321.2(RB1):c.443del (p.Met148fs) rs1131690867
NM_000321.2(RB1):c.446C>G (p.Ser149Ter) rs587778870
NM_000321.2(RB1):c.45_70dup (p.Pro24fs) rs1566174074
NM_000321.2(RB1):c.45_76del (p.Ala17fs)
NM_000321.2(RB1):c.463dup (p.Tyr155fs) rs587778854
NM_000321.2(RB1):c.465_468dup (p.Val157Ter) rs1566186889
NM_000321.2(RB1):c.496G>T (p.Glu166Ter) rs1131690874
NM_000321.2(RB1):c.508G>T (p.Glu170Ter) rs587778826
NM_000321.2(RB1):c.510del (p.Glu170fs) rs1555283482
NM_000321.2(RB1):c.539del (p.Ser179_Ser180insTer) rs1131690871
NM_000321.2(RB1):c.549del (p.Glu184fs) rs1131690887
NM_000321.2(RB1):c.54_73dup (p.Pro25fs) rs1555279212
NM_000321.2(RB1):c.54_76dup (p.Pro26fs) rs1555279210
NM_000321.2(RB1):c.54_79del (p.Glu19fs) rs727504120
NM_000321.2(RB1):c.597_601dup (p.Ala201delinsAspTer) rs1555283670
NM_000321.2(RB1):c.607+1G>A rs587776789
NM_000321.2(RB1):c.607+1G>T rs587776789
NM_000321.2(RB1):c.644C>A (p.Ser215Ter) rs768305224
NM_000321.2(RB1):c.681del (p.Lys228fs) rs1131690905
NM_000321.2(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000321.2(RB1):c.702del (p.Leu234fs) rs1131690878
NM_000321.2(RB1):c.709G>T (p.Glu237Ter) rs1131690904
NM_000321.2(RB1):c.726dup (p.Val243fs)
NM_000321.2(RB1):c.731_732delinsATC (p.Ile244fs) rs1131690890
NM_000321.2(RB1):c.735del (p.Ile246fs) rs1131690847
NM_000321.2(RB1):c.751C>T (p.Arg251Ter) rs1131690863
NM_000321.2(RB1):c.763C>T (p.Arg255Ter) rs587778842
NM_000321.2(RB1):c.772_776del (p.Asn258fs) rs1566192530
NM_000321.2(RB1):c.795del (p.Lys265fs) rs587778827
NM_000321.2(RB1):c.800del (p.Leu267fs) rs1566192557
NM_000321.2(RB1):c.83del (p.Pro28fs) rs1276653645
NM_000321.2(RB1):c.846del (p.Glu282fs) rs1131690849
NM_000321.2(RB1):c.849_856del (p.Cys283_Asp286delinsTer)
NM_000321.2(RB1):c.859G>T (p.Glu287Ter)
NM_000321.2(RB1):c.861+2del rs1064795296
NM_000321.2(RB1):c.861G>A (p.Glu287=) rs1555284956
NM_000321.2(RB1):c.861G>C (p.Glu287Asp) rs1555284956
NM_000321.2(RB1):c.862-2A>C rs1131690914
NM_000321.2(RB1):c.869del (p.Asn290fs) rs1131690901
NM_000321.2(RB1):c.884dup (p.Asn295fs) rs587778828
NM_000321.2(RB1):c.889del (p.Ile297fs) rs1555285133
NM_000321.2(RB1):c.92dup (p.Asp32fs) rs1566174147
NM_000321.2(RB1):c.937G>T (p.Glu313Ter) rs587778843
NM_000321.2(RB1):c.940-1G>A rs1131690860
NM_000321.2(RB1):c.951_954del (p.Ser318fs) rs1566194323
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000321.2(RB1):c.964G>T (p.Glu322Ter) rs776534331
NM_000321.2(RB1):c.967G>T (p.Glu323Ter) rs1060503077
NM_000321.2(RB1):c.979_1033dup (p.Thr345delinsLysLysTer) rs1555285429
NM_000321.2(RB1):c.9_42dup (p.Ala15fs) rs1555279195
RB1, 5-BP DEL, EX8

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