ClinVar Miner

List of variants in gene RB1 reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 148
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HGVS dbSNP
NM_000321.2(RB1):c.104A>T (p.Gln35Leu) rs1480581747
NM_000321.2(RB1):c.106G>A (p.Asp36Asn) rs745822791
NM_000321.2(RB1):c.109A>G (p.Ser37Gly) rs896487590
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.116C>T (p.Pro39Leu) rs1180053508
NM_000321.2(RB1):c.1174G>A (p.Ala392Thr) rs181988132
NM_000321.2(RB1):c.1180G>A (p.Asp394Asn) rs753350745
NM_000321.2(RB1):c.1198C>G (p.Leu400Val) rs535576919
NM_000321.2(RB1):c.1268G>A (p.Gly423Glu) rs748635133
NM_000321.2(RB1):c.128C>G (p.Pro43Arg) rs1555279239
NM_000321.2(RB1):c.1306C>A (p.Gln436Lys) rs4151534
NM_000321.2(RB1):c.1325G>C (p.Gly442Ala) rs1370947947
NM_000321.2(RB1):c.1352G>A (p.Arg451His) rs1312442837
NM_000321.2(RB1):c.1364G>C (p.Arg455Pro) rs769425649
NM_000321.2(RB1):c.1376C>T (p.Ser459Phe) rs1593455667
NM_000321.2(RB1):c.1468G>A (p.Ala490Thr) rs201458896
NM_000321.2(RB1):c.1474G>A (p.Glu492Lys) rs1060503084
NM_000321.2(RB1):c.155C>T (p.Thr52Ile) rs780588550
NM_000321.2(RB1):c.1574C>A (p.Ala525Asp) rs4151539
NM_000321.2(RB1):c.1617A>C (p.Glu539Asp) rs371031574
NM_000321.2(RB1):c.1619G>T (p.Gly540Val) rs769696726
NM_000321.2(RB1):c.1675G>C (p.Glu559Gln) rs1131690869
NM_000321.2(RB1):c.1696-4A>G rs143685082
NM_000321.2(RB1):c.1736G>A (p.Arg579Gln) rs751560923
NM_000321.2(RB1):c.1763C>T (p.Ser588Phe) rs1555293637
NM_000321.2(RB1):c.1814+3A>G rs376886420
NM_000321.2(RB1):c.1814+4A>G rs1131690898
NM_000321.2(RB1):c.1844A>G (p.Lys615Arg) rs1334513810
NM_000321.2(RB1):c.1859C>T (p.Thr620Met) rs554834063
NM_000321.2(RB1):c.1861C>A (p.Arg621Ser) rs367578442
NM_000321.2(RB1):c.1861C>T (p.Arg621Cys) rs367578442
NM_000321.2(RB1):c.1862G>A (p.Arg621His) rs373601944
NM_000321.2(RB1):c.1887G>C (p.Glu629Asp) rs367668687
NM_000321.2(RB1):c.1898C>T (p.Thr633Ile) rs587778641
NM_000321.2(RB1):c.1967G>A (p.Arg656Gln) rs202031219
NM_000321.2(RB1):c.2003G>A (p.Arg668His) rs551747882
NM_000321.2(RB1):c.2078A>G (p.Glu693Gly) rs775195256
NM_000321.2(RB1):c.2091C>G (p.Asp697Glu) rs3092903
NM_000321.2(RB1):c.2198A>G (p.His733Arg) rs778503152
NM_000321.2(RB1):c.219A>C (p.Arg73Ser) rs1131690854
NM_000321.2(RB1):c.2221C>T (p.Arg741Cys) rs529366765
NM_000321.2(RB1):c.2222G>A (p.Arg741His) rs764520289
NM_000321.2(RB1):c.2289A>T (p.Arg763Ser) rs1167280920
NM_000321.2(RB1):c.2327C>A (p.Pro776His) rs912203557
NM_000321.2(RB1):c.2356C>T (p.Pro786Ser) rs754507551
NM_000321.2(RB1):c.238A>G (p.Lys80Glu) rs751870680
NM_000321.2(RB1):c.2393G>A (p.Arg798Gln) rs374523971
NM_000321.2(RB1):c.2397T>G (p.Ile799Met) rs749392116
NM_000321.2(RB1):c.2464C>G (p.Pro822Ala) rs368413787
NM_000321.2(RB1):c.2491A>G (p.Ile831Val) rs761068783
NM_000321.2(RB1):c.2519G>A (p.Gly840Glu) rs1131690900
NM_000321.2(RB1):c.2533T>C (p.Phe845Leu) rs754183765
NM_000321.2(RB1):c.2558G>A (p.Cys853Tyr) rs1566240940
NM_000321.2(RB1):c.2626C>T (p.Arg876Cys) rs143105337
NM_000321.2(RB1):c.264+5G>C rs1131690853
NM_000321.2(RB1):c.2712G>T (p.Met904Ile) rs1461167778
NM_000321.2(RB1):c.2726C>A (p.Thr909Lys) rs761999108
NM_000321.2(RB1):c.301A>G (p.Ile101Val) rs1555282783
NM_000321.2(RB1):c.339G>A (p.Met113Ile) rs1593434250
NM_000321.2(RB1):c.341C>T (p.Ser114Leu) rs139673557
NM_000321.2(RB1):c.34A>T (p.Thr12Ser) rs1566174063
NM_000321.2(RB1):c.34_42del (p.9_11TAA[1]) rs759465865
NM_000321.2(RB1):c.370A>G (p.Ile124Val) rs769858139
NM_000321.2(RB1):c.501-3C>T rs773662417
NM_000321.2(RB1):c.536G>T (p.Ser179Ile) rs1566187849
NM_000321.2(RB1):c.562G>A (p.Ala188Thr) rs1189153218
NM_000321.2(RB1):c.590C>A (p.Thr197Lys) rs1131690883
NM_000321.2(RB1):c.608-4del rs762805947
NM_000321.2(RB1):c.613G>A (p.Val205Ile) rs770100636
NM_000321.2(RB1):c.628G>T (p.Asp210Tyr) rs148992508
NM_000321.2(RB1):c.685C>T (p.Leu229Phe) rs766131342
NM_000321.2(RB1):c.694C>T (p.Pro232Ser) rs1195873978
NM_000321.2(RB1):c.69_71GCC[5] (p.Pro29dup) rs587778823
NM_000321.2(RB1):c.718+5G>T rs1131690848
NM_000321.2(RB1):c.731T>C (p.Ile244Thr) rs147754935
NM_000321.2(RB1):c.761G>A (p.Arg254Lys) rs200674097
NM_000321.2(RB1):c.770A>G (p.Gln257Arg) rs1232080974
NM_000321.2(RB1):c.814A>G (p.Arg272Gly) rs1555284945
NM_000321.2(RB1):c.83C>G (p.Pro28Arg) rs776175164
NM_000321.2(RB1):c.850A>G (p.Asn284Asp) rs761609284
NM_000321.2(RB1):c.867A>C (p.Lys289Asn) rs1555285126
NM_000321.2(RB1):c.88G>C (p.Glu30Gln) rs1555279228
NM_000321.2(RB1):c.89A>C (p.Glu30Ala) rs1482284498
NM_000321.2(RB1):c.905C>A (p.Ser302Tyr) rs1208736713
NM_000321.2(RB1):c.959G>A (p.Arg320Gln) rs760787104
NM_000321.2(RB1):c.962A>G (p.Tyr321Cys) rs1566194338
NM_000321.2(RB1):c.976C>T (p.Leu326Phe) rs1566194351
NM_000321.3(RB1):c.-1C>T rs754354560
NM_000321.3(RB1):c.-2T>G rs1466986201
NM_000321.3(RB1):c.1078A>T (p.Ser360Cys) rs1593449010
NM_000321.3(RB1):c.1240A>C (p.Ser414Arg) rs974956317
NM_000321.3(RB1):c.1422-4T>G rs201554179
NM_000321.3(RB1):c.1424A>C (p.Lys475Thr) rs1593456261
NM_000321.3(RB1):c.1498A>C (p.Arg500=) rs1593456364
NM_000321.3(RB1):c.150A>T (p.Glu50Asp) rs1330924197
NM_000321.3(RB1):c.1523C>T (p.Ser508Phe) rs1204086259
NM_000321.3(RB1):c.1531G>C (p.Asp511His) rs145729675
NM_000321.3(RB1):c.153A>C (p.Glu51Asp) rs756860689
NM_000321.3(RB1):c.1597G>C (p.Glu533Gln) rs1237070816
NM_000321.3(RB1):c.1645C>G (p.His549Asp) rs1050717570
NM_000321.3(RB1):c.1651G>A (p.Glu551Lys) rs147534828
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu) rs1593529910
NM_000321.3(RB1):c.1722A>C (p.Lys574Asn) rs1171421079
NM_000321.3(RB1):c.172A>G (p.Thr58Ala) rs1593414365
NM_000321.3(RB1):c.1741G>A (p.Gly581Arg) rs375645171
NM_000321.3(RB1):c.175_177delinsCCT (p.Ala59Pro) rs1593414375
NM_000321.3(RB1):c.1829T>C (p.Val610Ala) rs934931283
NM_000321.3(RB1):c.1892A>G (p.Gln631Arg) rs1593532019
NM_000321.3(RB1):c.1982G>A (p.Arg661Gln) rs750578651
NM_000321.3(RB1):c.2002C>A (p.Arg668Ser) rs369755801
NM_000321.3(RB1):c.2038A>G (p.Ile680Val) rs1422900655
NM_000321.3(RB1):c.2097T>A (p.His699Gln) rs1593534809
NM_000321.3(RB1):c.2138A>G (p.Lys713Arg) rs1593538161
NM_000321.3(RB1):c.2198A>T (p.His733Leu) rs778503152
NM_000321.3(RB1):c.2207A>C (p.Gln736Pro) rs1372842030
NM_000321.3(RB1):c.2324G>A (p.Arg775Lys) rs1593539271
NM_000321.3(RB1):c.2326-4C>G rs1356053052
NM_000321.3(RB1):c.2333C>T (p.Thr778Ile) rs1593539364
NM_000321.3(RB1):c.233G>C (p.Trp78Ser) rs1593414417
NM_000321.3(RB1):c.2366C>T (p.Pro789Leu) rs1467492987
NM_000321.3(RB1):c.2431A>G (p.Ser811Gly) rs1371240619
NM_000321.3(RB1):c.2441A>C (p.Lys814Thr) rs1566237785
NM_000321.3(RB1):c.2490-5G>A rs1593544633
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786
NM_000321.3(RB1):c.2557T>G (p.Cys853Gly) rs1295589257
NM_000321.3(RB1):c.2568C>A (p.Asp856Glu) rs1566240957
NM_000321.3(RB1):c.2570G>T (p.Arg857Leu) rs144668210
NM_000321.3(RB1):c.2597G>A (p.Ser866Asn) rs1593547165
NM_000321.3(RB1):c.2615T>C (p.Leu872Pro) rs1470516350
NM_000321.3(RB1):c.266G>A (p.Gly89Glu) rs371655281
NM_000321.3(RB1):c.2759T>C (p.Met920Thr) rs148501460
NM_000321.3(RB1):c.2777A>G (p.Glu926Gly) rs1593549718
NM_000321.3(RB1):c.308T>C (p.Ile103Thr) rs1593434231
NM_000321.3(RB1):c.316G>T (p.Ala106Ser) rs1210328667
NM_000321.3(RB1):c.337A>C (p.Met113Leu) rs1593434246
NM_000321.3(RB1):c.372A>G (p.Ile124Met) rs1593434342
NM_000321.3(RB1):c.395T>A (p.Phe132Tyr) rs762380973
NM_000321.3(RB1):c.404T>C (p.Leu135Pro) rs1593435713
NM_000321.3(RB1):c.50C>T (p.Ala17Val) rs1593412070
NM_000321.3(RB1):c.560C>T (p.Ser187Phe) rs770277291
NM_000321.3(RB1):c.643T>C (p.Ser215Pro) rs748923368
NM_000321.3(RB1):c.69_71GCC[3] (p.Pro29del) rs587778823
NM_000321.3(RB1):c.69_71GCC[6] (p.Pro28_Pro29dup) rs587778823
NM_000321.3(RB1):c.722C>T (p.Thr241Ile) rs1593445085
NM_000321.3(RB1):c.74C>T (p.Pro25Leu) rs1593412158
NM_000321.3(RB1):c.764G>A (p.Arg255Gln) rs746954896
NM_000321.3(RB1):c.905C>T (p.Ser302Phe) rs1208736713
NM_000321.3(RB1):c.908T>G (p.Leu303Arg) rs900955797

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