ClinVar Miner

List of variants in gene TSC1 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (961):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 295
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HGVS dbSNP
NM_000368.4(TSC1):c.*1508A>G rs552190342
NM_000368.4(TSC1):c.*2109C>T rs73552808
NM_000368.4(TSC1):c.*2228G>A rs528833042
NM_000368.4(TSC1):c.*2874G>A rs111832812
NM_000368.4(TSC1):c.*2893del rs143549363
NM_000368.4(TSC1):c.*3988G>A rs563835484
NM_000368.4(TSC1):c.*4631del rs60000611
NM_000368.4(TSC1):c.-242G>T rs571288003
NM_000368.4(TSC1):c.-35G>A rs370122384
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1002G>A (p.Ser334=) rs200820603
NM_000368.4(TSC1):c.1006C>A (p.Arg336=) rs118203483
NM_000368.4(TSC1):c.1029+8G>A rs1036865129
NM_000368.4(TSC1):c.1038T>C (p.Leu346=) rs753360364
NM_000368.4(TSC1):c.1050T>C (p.Ser350=) rs150777389
NM_000368.4(TSC1):c.106+9A>G rs1554820969
NM_000368.4(TSC1):c.1078A>G (p.Thr360Ala) rs201738258
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1107G>A (p.Leu369=) rs909737447
NM_000368.4(TSC1):c.110G>A (p.Arg37His) rs750441497
NM_000368.4(TSC1):c.1142-9G>A rs1554817169
NM_000368.4(TSC1):c.114C>G (p.Gly38=) rs776158461
NM_000368.4(TSC1):c.1167A>C (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) rs201452238
NM_000368.4(TSC1):c.1190C>T (p.Pro397Leu) rs766487204
NM_000368.4(TSC1):c.1191A>G (p.Pro397=) rs370281825
NM_000368.4(TSC1):c.1194C>G (p.Ala398=) rs1060504861
NM_000368.4(TSC1):c.1200C>G (p.Leu400=) rs767514820
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1209G>T (p.Ser403=)
NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.4(TSC1):c.121C>T (p.Leu41Phe) rs118203334
NM_000368.4(TSC1):c.1248C>T (p.Val416=) rs777823426
NM_000368.4(TSC1):c.1257C>A (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257C>G (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1257C>T (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.1263+6_1263+8dup rs751182565
NM_000368.4(TSC1):c.1263+9C>T rs761837376
NM_000368.4(TSC1):c.1269G>A (p.Glu423=) rs1272450087
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.4(TSC1):c.1302A>G (p.Arg434=) rs907840461
NM_000368.4(TSC1):c.1305A>G (p.Gln435=) rs1334781311
NM_000368.4(TSC1):c.1317G>C (p.Leu439=) rs770692313
NM_000368.4(TSC1):c.1328G>T (p.Gly443Val) rs1489175329
NM_000368.4(TSC1):c.1332A>G (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1333+5A>G rs118203515
NM_000368.4(TSC1):c.1338G>A (p.Glu446=) rs1410493156
NM_000368.4(TSC1):c.133T>C (p.Leu45=) rs755226092
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1344T>C (p.Pro448=) rs530908428
NM_000368.4(TSC1):c.1344T>G (p.Pro448=) rs530908428
NM_000368.4(TSC1):c.1439-10T>A rs1060504852
NM_000368.4(TSC1):c.1443A>C (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1443A>G (p.Ala481=) rs1554816081
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1491G>A (p.Val497=) rs1554816056
NM_000368.4(TSC1):c.1539A>G (p.Pro513=) rs755055358
NM_000368.4(TSC1):c.153A>C (p.Glu51Asp) rs118203342
NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) rs371908551
NM_000368.4(TSC1):c.1563G>A (p.Ser521=) rs1554816005
NM_000368.4(TSC1):c.1581G>A (p.Gln527=) rs1554815989
NM_000368.4(TSC1):c.1582_1602del (p.Gly528_Glu534del) rs766376606
NM_000368.4(TSC1):c.1602_1603delinsTG (p.Glu534_Pro535delinsAspAla) rs1554815972
NM_000368.4(TSC1):c.1614C>T (p.Ser538=) rs878853961
NM_000368.4(TSC1):c.1617C>T (p.Ser539=) rs1554815969
NM_000368.4(TSC1):c.1626G>A (p.Lys542=) rs756935981
NM_000368.4(TSC1):c.1631G>A (p.Gly544Glu) rs770570830
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1674C>T (p.Pro558=) rs878853962
NM_000368.4(TSC1):c.168G>A (p.Pro56=) rs781483110
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1701G>C (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.171A>G (p.Ala57=) rs1060504853
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1776G>A (p.Thr592=) rs118203580
NM_000368.4(TSC1):c.1779A>G (p.Arg593=) rs964191879
NM_000368.4(TSC1):c.1809G>A (p.Pro603=) rs112434645
NM_000368.4(TSC1):c.181C>T (p.Leu61=) rs752047592
NM_000368.4(TSC1):c.1863C>T (p.Ile621=) rs898222579
NM_000368.4(TSC1):c.1869G>A (p.Lys623=) rs778556382
NM_000368.4(TSC1):c.186C>G (p.Thr62=) rs1554820640
NM_000368.4(TSC1):c.1878G>A (p.Glu626=) rs753424167
NM_000368.4(TSC1):c.1879C>T (p.Leu627=) rs1171110012
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1884A>G (p.Leu628=) rs1038140620
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1943T>C (p.Val648Ala) rs771341361
NM_000368.4(TSC1):c.1944G>A (p.Val648=) rs1554815720
NM_000368.4(TSC1):c.1954C>T (p.Leu652=) rs747452647
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.1997+9C>T rs371043832
NM_000368.4(TSC1):c.2018C>A (p.Ser673Tyr) rs774835995
NM_000368.4(TSC1):c.2023G>A (p.Asp675Asn) rs768189353
NM_000368.4(TSC1):c.2026T>A (p.Trp676Arg) rs748901883
NM_000368.4(TSC1):c.2030C>T (p.Thr677Ile) rs779584449
NM_000368.4(TSC1):c.2038G>A (p.Gly680Arg) rs757322533
NM_000368.4(TSC1):c.2039G>A (p.Gly680Glu) rs118203623
NM_000368.4(TSC1):c.2064C>T (p.Ile688=) rs878853963
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2111A>G (p.Tyr704Cys) rs752054698
NM_000368.4(TSC1):c.2115G>A (p.Glu705=) rs142662480
NM_000368.4(TSC1):c.2136T>C (p.His712=) rs1554815286
NM_000368.4(TSC1):c.213C>A (p.His71Gln) rs765578482
NM_000368.4(TSC1):c.2148C>T (p.Asn716=) rs1554815274
NM_000368.4(TSC1):c.2162G>A (p.Arg721His) rs769566267
NM_000368.4(TSC1):c.2196T>C (p.His732=) rs776441369
NM_000368.4(TSC1):c.2208+10G>T rs945077563
NM_000368.4(TSC1):c.2226A>G (p.Leu742=) rs397514878
NM_000368.4(TSC1):c.2235G>A (p.Lys745=) rs753265422
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2322G>A (p.Lys774=) rs772038670
NM_000368.4(TSC1):c.2323C>T (p.Leu775Phe) rs868755168
NM_000368.4(TSC1):c.2391+8C>T rs1554814904
NM_000368.4(TSC1):c.2392-7T>C rs1554814693
NM_000368.4(TSC1):c.2394G>A (p.Thr798=) rs1060504860
NM_000368.4(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.4(TSC1):c.2472T>G (p.Thr824=) rs762811821
NM_000368.4(TSC1):c.2517G>A (p.Glu839=) rs1554814437
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2613A>G (p.Ser871=) rs1031508405
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.4(TSC1):c.2626-3dup rs1554813639
NM_000368.4(TSC1):c.2626-4T>C rs777386691
NM_000368.4(TSC1):c.2626-4_2626-3insTC rs1554813651
NM_000368.4(TSC1):c.2636T>C (p.Met879Thr)
NM_000368.4(TSC1):c.2654G>A (p.Arg885Gln) rs200514807
NM_000368.4(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
NM_000368.4(TSC1):c.2682T>C (p.His894=) rs771479673
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2722C>T (p.Arg908Trp) rs748845915
NM_000368.4(TSC1):c.2723G>A (p.Arg908Gln) rs780115763
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.273G>C (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.4(TSC1):c.2760C>T (p.Asp920=) rs1226490074
NM_000368.4(TSC1):c.2766T>G (p.Leu922=) rs546119844
NM_000368.4(TSC1):c.2778G>A (p.Gln926=) rs1554813423
NM_000368.4(TSC1):c.2781G>A (p.Lys927=) rs118203733
NM_000368.4(TSC1):c.2814-7C>T rs1060504851
NM_000368.4(TSC1):c.2814-9A>G rs878853965
NM_000368.4(TSC1):c.2896T>C (p.Tyr966His) rs767946427
NM_000368.4(TSC1):c.2904G>A (p.Arg968=) rs1554813280
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2934T>C (p.Leu978=) rs1554813253
NM_000368.4(TSC1):c.2940A>G (p.Glu980=) rs557674294
NM_000368.4(TSC1):c.2964A>G (p.Ala988=) rs1057520482
NM_000368.4(TSC1):c.2965G>T (p.Ala989Ser) rs537585211
NM_000368.4(TSC1):c.3060C>T (p.Thr1020=) rs1380396209
NM_000368.4(TSC1):c.3072C>T (p.Ser1024=) rs1554812912
NM_000368.4(TSC1):c.3075C>T (p.Ser1025=) rs765753157
NM_000368.4(TSC1):c.3079C>T (p.Arg1027Trp) rs375394001
NM_000368.4(TSC1):c.3080G>A (p.Arg1027Gln) rs796053461
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
NM_000368.4(TSC1):c.3120C>T (p.Ser1040=) rs1289954163
NM_000368.4(TSC1):c.3125G>A (p.Ser1042Asn) rs148931779
NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779
NM_000368.4(TSC1):c.3140C>T (p.Thr1047Ile) rs587778726
NM_000368.4(TSC1):c.3144A>C (p.Pro1048=) rs1554812826
NM_000368.4(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.4(TSC1):c.3164G>T (p.Arg1055Met) rs1167652701
NM_000368.4(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992
NM_000368.4(TSC1):c.3207A>G (p.Glu1069=) rs878853966
NM_000368.4(TSC1):c.3228C>T (p.Thr1076=) rs140622357
NM_000368.4(TSC1):c.3237C>T (p.Gly1079=) rs749995749
NM_000368.4(TSC1):c.3249T>C (p.Ser1083=)
NM_000368.4(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439
NM_000368.4(TSC1):c.3305G>C (p.Ser1102Thr) rs1263464680
NM_000368.4(TSC1):c.331C>T (p.Pro111Ser) rs748669519
NM_000368.4(TSC1):c.3321C>T (p.Asp1107=) rs118203752
NM_000368.4(TSC1):c.3361C>T (p.Leu1121=) rs769478982
NM_000368.4(TSC1):c.3381G>A (p.Val1127=) rs773586317
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3396C>G (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3396C>T (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.340C>T (p.Pro114Ser) rs779395169
NM_000368.4(TSC1):c.3426C>T (p.Pro1142=) rs758286878
NM_000368.4(TSC1):c.3429G>A (p.Pro1143=) rs759431801
NM_000368.4(TSC1):c.3429G>C (p.Pro1143=) rs759431801
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.3453A>G (p.Leu1151=) rs1554812550
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.3489C>T (p.His1163=) rs1554812527
NM_000368.4(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.4(TSC1):c.364-7C>T rs775465260
NM_000368.4(TSC1):c.375C>T (p.Asp125=) rs560863078
NM_000368.4(TSC1):c.389C>T (p.Thr130Ile) rs779340088
NM_000368.4(TSC1):c.402G>A (p.Leu134=) rs147125501
NM_000368.4(TSC1):c.45C>T (p.Asp15=) rs1457262106
NM_000368.4(TSC1):c.467A>C (p.Asp156Ala) rs893232039
NM_000368.4(TSC1):c.479G>A (p.Arg160His) rs749979841
NM_000368.4(TSC1):c.503A>C (p.Lys168Thr) rs1007335343
NM_000368.4(TSC1):c.509-10C>T rs780670013
NM_000368.4(TSC1):c.514G>A (p.Val172Met) rs952813051
NM_000368.4(TSC1):c.51C>G (p.Pro17=) rs768175095
NM_000368.4(TSC1):c.531C>T (p.Leu177=) rs752615412
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.540C>T (p.Leu180=) rs201562103
NM_000368.4(TSC1):c.549T>C (p.Ser183=) rs774398322
NM_000368.4(TSC1):c.593A>G (p.Asn198Ser) rs577983115
NM_000368.4(TSC1):c.598G>A (p.Val200Ile) rs118203410
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.651A>G (p.Glu217=)
NM_000368.4(TSC1):c.72C>T (p.Asp24=) rs376527838
NM_000368.4(TSC1):c.737+10C>T rs1554819375
NM_000368.4(TSC1):c.738-10C>A rs768158324
NM_000368.4(TSC1):c.73G>A (p.Val25Met) rs1230244328
NM_000368.4(TSC1):c.771C>T (p.Ile257=) rs1060504854
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.774G>A (p.Glu258=) rs1554817678
NM_000368.4(TSC1):c.804A>G (p.Glu268=) rs753895570
NM_000368.4(TSC1):c.809C>T (p.Ser270Leu) rs878853968
NM_000368.4(TSC1):c.813T>C (p.Tyr271=) rs118203452
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.852C>T (p.Arg284=) rs769706203
NM_000368.4(TSC1):c.870C>T (p.Ala290=) rs779155575
NM_000368.4(TSC1):c.879C>T (p.Thr293=) rs1554817584
NM_000368.4(TSC1):c.87T>C (p.Phe29=) rs745384145
NM_000368.4(TSC1):c.914-10T>C rs1554817441
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.932C>G (p.Pro311Arg) rs776158460
NM_000368.4(TSC1):c.941C>T (p.Thr314Met) rs373454700
NM_000368.4(TSC1):c.942G>A (p.Thr314=) rs144208203
NM_000368.4(TSC1):c.947G>A (p.Arg316Gln) rs375956049
NM_000368.4(TSC1):c.951G>A (p.Leu317=) rs1554817419
NM_000368.4(TSC1):c.976C>T (p.Leu326=) rs1554817396
NM_000368.4(TSC1):c.99C>T (p.Leu33=) rs757216373
NM_000368.5(TSC1):c.1005A>G (p.Thr335=)
NM_000368.5(TSC1):c.1059T>C (p.Cys353=)
NM_000368.5(TSC1):c.1116T>C (p.Pro372=)
NM_000368.5(TSC1):c.111T>C (p.Arg37=)
NM_000368.5(TSC1):c.1233C>T (p.Leu411=)
NM_000368.5(TSC1):c.1251A>G (p.Thr417=) rs147127442
NM_000368.5(TSC1):c.1263+10A>G
NM_000368.5(TSC1):c.1290A>G (p.Pro430=)
NM_000368.5(TSC1):c.1438+8A>G
NM_000368.5(TSC1):c.1439-20_1439-9del rs1064792996
NM_000368.5(TSC1):c.1439-7C>T
NM_000368.5(TSC1):c.1549C>T (p.Arg517Trp)
NM_000368.5(TSC1):c.1563G>C (p.Ser521=)
NM_000368.5(TSC1):c.1590C>T (p.Ser530=)
NM_000368.5(TSC1):c.1716C>T (p.Cys572=)
NM_000368.5(TSC1):c.1734C>T (p.Thr578=)
NM_000368.5(TSC1):c.1809G>T (p.Pro603=)
NM_000368.5(TSC1):c.1833A>G (p.Ala611=)
NM_000368.5(TSC1):c.1848C>G (p.Ala616=)
NM_000368.5(TSC1):c.1860C>T (p.Val620=)
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.5(TSC1):c.1998-11dup rs1388433086
NM_000368.5(TSC1):c.2010C>T (p.Pro670=)
NM_000368.5(TSC1):c.2022C>G (p.Val674=)
NM_000368.5(TSC1):c.2145G>T (p.Arg715=)
NM_000368.5(TSC1):c.2208+7A>G
NM_000368.5(TSC1):c.2268A>G (p.Lys756=)
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.5(TSC1):c.237T>C (p.Tyr79=)
NM_000368.5(TSC1):c.2421T>A (p.Ile807=)
NM_000368.5(TSC1):c.2448G>A (p.Lys816=)
NM_000368.5(TSC1):c.2478G>A (p.Leu826=)
NM_000368.5(TSC1):c.2502+8_2502+10del rs762882968
NM_000368.5(TSC1):c.2556G>T (p.Leu852=)
NM_000368.5(TSC1):c.2626-3_2626-2insT
NM_000368.5(TSC1):c.2626-6_2626-5insTC
NM_000368.5(TSC1):c.2626-8T>C
NM_000368.5(TSC1):c.2626-9T>C
NM_000368.5(TSC1):c.270C>T (p.Leu90=)
NM_000368.5(TSC1):c.2878T>C (p.Leu960=)
NM_000368.5(TSC1):c.2994C>T (p.Asp998=)
NM_000368.5(TSC1):c.3069C>T (p.Pro1023=)
NM_000368.5(TSC1):c.3132G>A (p.Glu1044=)
NM_000368.5(TSC1):c.3135T>C (p.Leu1045=)
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.5(TSC1):c.3426C>A (p.Pro1142=)
NM_000368.5(TSC1):c.3432C>G (p.Thr1144=)
NM_000368.5(TSC1):c.3456T>C (p.His1152=)
NM_000368.5(TSC1):c.420A>G (p.Leu140=)
NM_000368.5(TSC1):c.468C>T (p.Asp156=)
NM_000368.5(TSC1):c.509-9del
NM_000368.5(TSC1):c.542A>G (p.His181Arg)
NM_000368.5(TSC1):c.546C>T (p.Ala182=)
NM_000368.5(TSC1):c.663+9A>G
NM_000368.5(TSC1):c.664-9C>T
NM_000368.5(TSC1):c.702G>A (p.Val234=)
NM_000368.5(TSC1):c.711C>T (p.Ser237=)
NM_000368.5(TSC1):c.762T>C (p.Asp254=)
NM_000368.5(TSC1):c.770T>A (p.Ile257Asn)
NM_000368.5(TSC1):c.870C>G (p.Ala290=)
NM_000368.5(TSC1):c.913+9T>C
NM_000368.5(TSC1):c.915G>T (p.Gly305=)
NM_000368.5(TSC1):c.954_956GTT[1] (p.Leu320del) rs755655903
NM_000368.5(TSC1):c.9A>G (p.Gln3=)
NM_001162426.2(TSC1):c.3109_3111AGC[8] (p.Ser1041_Ser1042dup) rs2234980

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