ClinVar Miner

List of variants in gene TSC1 studied for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 215
Download table as spreadsheet
HGVS dbSNP
NM_000368.4(TSC1):c.-7C>T rs62621221
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1006C>T (p.Arg336Trp) rs118203483
NM_000368.4(TSC1):c.1007G>A (p.Arg336Gln) rs397514808
NM_000368.4(TSC1):c.1047A>G (p.Pro349=) rs118203492
NM_000368.4(TSC1):c.1051A>G (p.Met351Val) rs781312535
NM_000368.4(TSC1):c.1058G>A (p.Cys353Tyr) rs876660024
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1084C>T (p.Pro362Ser) rs397514864
NM_000368.4(TSC1):c.1091A>T (p.Asn364Ile) rs876658981
NM_000368.4(TSC1):c.110G>A (p.Arg37His) rs750441497
NM_000368.4(TSC1):c.1113C>T (p.His371=) rs771217333
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.1167A>T (p.Gly389=) rs876660723
NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) rs201452238
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>A (p.Ser403=) rs141184479
NM_000368.4(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218
NM_000368.4(TSC1):c.1239G>A (p.Gln413=) rs786203715
NM_000368.4(TSC1):c.1257C>G (p.Pro419=) rs369642207
NM_000368.4(TSC1):c.126A>C (p.Val42=) rs118203335
NM_000368.4(TSC1):c.1283C>T (p.Ala428Val) rs1554816420
NM_000368.4(TSC1):c.1296A>C (p.Leu432=) rs1554816406
NM_000368.4(TSC1):c.1315C>G (p.Leu439Val) rs199800297
NM_000368.4(TSC1):c.1332A>G (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1333+5A>G rs118203515
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
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.135G>A (p.Leu45=) rs149278759
NM_000368.4(TSC1):c.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1439-4T>C rs762473323
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1506C>T (p.Gly502=) rs772337076
NM_000368.4(TSC1):c.1526G>A (p.Arg509Gln) rs118203543
NM_000368.4(TSC1):c.1567G>C (p.Ala523Pro) rs118203548
NM_000368.4(TSC1):c.1580A>G (p.Gln527Arg) rs767708806
NM_000368.4(TSC1):c.1584C>T (p.Gly528=) rs149439187
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1677C>T (p.Cys559=) rs368317116
NM_000368.4(TSC1):c.1678G>A (p.Gly560Ser) rs746304922
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1685C>G (p.Ala562Gly) rs377185303
NM_000368.4(TSC1):c.1687G>C (p.Asp563His) rs1554815931
NM_000368.4(TSC1):c.1700C>T (p.Ala567Val) rs397514880
NM_000368.4(TSC1):c.1701G>A (p.Ala567=) rs35478675
NM_000368.4(TSC1):c.1708_1709del (p.Arg570fs) rs118203564
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1749C>T (p.Pro583=) rs876659216
NM_000368.4(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1772C>A (p.Pro591Gln) rs768985094
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1776G>A (p.Thr592=) rs118203580
NM_000368.4(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
NM_000368.4(TSC1):c.1878G>A (p.Glu626=) rs753424167
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
NM_000368.4(TSC1):c.1916G>A (p.Gly639Asp) rs372583166
NM_000368.4(TSC1):c.1916G>T (p.Gly639Val) rs372583166
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1927A>G (p.Thr643Ala) rs1485955306
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.4(TSC1):c.1967G>C (p.Gly656Ala) rs1554815701
NM_000368.4(TSC1):c.1974C>T (p.Asp658=) rs118203608
NM_000368.4(TSC1):c.1976C>T (p.Ala659Val) rs118203609
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2042-5A>G rs118203627
NM_000368.4(TSC1):c.2057A>G (p.Asp686Gly) rs786201465
NM_000368.4(TSC1):c.2065C>T (p.Arg689Cys) rs202241429
NM_000368.4(TSC1):c.2066G>A (p.Arg689His) rs200827913
NM_000368.4(TSC1):c.2072T>C (p.Leu691Pro) rs876658244
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
NM_000368.4(TSC1):c.2085G>A (p.Leu695=) rs767518902
NM_000368.4(TSC1):c.208A>G (p.Lys70Glu) rs876658838
NM_000368.4(TSC1):c.213C>A (p.His71Gln) rs765578482
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.21C>G (p.Val7=) rs145987906
NM_000368.4(TSC1):c.21C>T (p.Val7=) rs145987906
NM_000368.4(TSC1):c.2208+2T>A rs1064794132
NM_000368.4(TSC1):c.2236G>T (p.Asp746Tyr) rs786203007
NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2303G>A (p.Arg768His) rs1033725987
NM_000368.4(TSC1):c.2307C>T (p.Asp769=) rs876658671
NM_000368.4(TSC1):c.2312T>C (p.Met771Thr) rs760208449
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.2356C>T (p.Arg786Ter) rs118203682
NM_000368.4(TSC1):c.2372A>G (p.Asn791Ser) rs876660894
NM_000368.4(TSC1):c.2412G>A (p.Arg804=) rs1554814676
NM_000368.4(TSC1):c.2425G>C (p.Glu809Gln) rs118203692
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
NM_000368.4(TSC1):c.249C>T (p.Ala83=) rs145783693
NM_000368.4(TSC1):c.2505C>T (p.Leu835=) rs112384441
NM_000368.4(TSC1):c.2508A>C (p.Ser836=) rs1554814456
NM_000368.4(TSC1):c.250G>A (p.Ala84Thr) rs118203357
NM_000368.4(TSC1):c.2514T>C (p.Ser838=) rs786203259
NM_000368.4(TSC1):c.2530C>T (p.Gln844Ter) rs1114167619
NM_000368.4(TSC1):c.2577C>T (p.Asn859=) rs781553258
NM_000368.4(TSC1):c.2620A>C (p.Thr874Pro) rs1554814368
NM_000368.4(TSC1):c.2643A>T (p.Lys881Asn) rs1554813602
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2647G>A (p.Ala883Thr) rs118203721
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.2667A>G (p.Glu889=) rs1554813546
NM_000368.4(TSC1):c.2689C>T (p.Gln897Ter) rs118203727
NM_000368.4(TSC1):c.2692C>T (p.Gln898Ter) rs118203728
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.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.4(TSC1):c.2816G>T (p.Gly939Val) rs1350545510
NM_000368.4(TSC1):c.2829C>T (p.Ala943=) rs4962081
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.287T>C (p.Val96Ala) rs370243092
NM_000368.4(TSC1):c.2882A>G (p.Glu961Gly) rs760762170
NM_000368.4(TSC1):c.2922C>T (p.Leu974=) rs769389702
NM_000368.4(TSC1):c.2933T>G (p.Leu978Arg) rs770834438
NM_000368.4(TSC1):c.2938G>A (p.Glu980Lys) rs876658600
NM_000368.4(TSC1):c.2968G>A (p.Glu990Lys) rs200398750
NM_000368.4(TSC1):c.2995G>A (p.Gly999Arg) rs780224196
NM_000368.4(TSC1):c.3005A>T (p.Asp1002Val) rs202121327
NM_000368.4(TSC1):c.3011T>C (p.Met1004Thr) rs757370776
NM_000368.4(TSC1):c.3012G>A (p.Met1004Ile) rs751970451
NM_000368.4(TSC1):c.3019C>T (p.His1007Tyr) rs764738792
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.3045C>T (p.Asn1015=) rs759047948
NM_000368.4(TSC1):c.3048T>C (p.Gly1016=) rs786203900
NM_000368.4(TSC1):c.3049G>A (p.Glu1017Lys) rs1554812930
NM_000368.4(TSC1):c.3059C>T (p.Thr1020Ile) rs1060503214
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.3112A>G (p.Ser1038Gly) rs768443391
NM_000368.4(TSC1):c.3115A>G (p.Ser1039Gly) rs1490199228
NM_000368.4(TSC1):c.3127A>G (p.Ser1043Gly) rs1554812848
NM_000368.4(TSC1):c.3141C>A (p.Thr1047=) rs892228756
NM_000368.4(TSC1):c.3159C>T (p.His1053=) rs778413037
NM_000368.4(TSC1):c.3184C>A (p.Arg1062=) rs118203745
NM_000368.4(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992
NM_000368.4(TSC1):c.3210G>A (p.Ala1070=) rs201165286
NM_000368.4(TSC1):c.3237C>T (p.Gly1079=) rs749995749
NM_000368.4(TSC1):c.3253A>G (p.Lys1085Glu) rs1442514678
NM_000368.4(TSC1):c.3266G>C (p.Gly1089Ala) rs762845573
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3290G>A (p.Arg1097His) rs118203750
NM_000368.4(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.4(TSC1):c.3303G>A (p.Glu1101=) rs118203751
NM_000368.4(TSC1):c.3309G>C (p.Gln1103His) rs1474184918
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000368.4(TSC1):c.3386C>T (p.Ala1129Val) rs772233665
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3396C>T (p.Pro1132=) rs774980129
NM_000368.4(TSC1):c.3408T>A (p.Asp1136Glu) rs751398082
NM_000368.4(TSC1):c.3413C>A (p.Pro1138His) rs756449737
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
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.3486A>T (p.Glu1162Asp) rs749746550
NM_000368.4(TSC1):c.348A>C (p.Leu116Phe) rs755799702
NM_000368.4(TSC1):c.348A>T (p.Leu116Phe) rs755799702
NM_000368.4(TSC1):c.356G>T (p.Cys119Phe) rs1554820265
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.389_390delinsT (p.Thr130fs) rs1554819932
NM_000368.4(TSC1):c.402G>A (p.Leu134=) rs147125501
NM_000368.4(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.4(TSC1):c.445C>G (p.Gln149Glu) rs118203384
NM_000368.4(TSC1):c.467A>C (p.Asp156Ala) rs893232039
NM_000368.4(TSC1):c.513C>T (p.His171=) rs377196837
NM_000368.4(TSC1):c.514G>A (p.Val172Met) rs952813051
NM_000368.4(TSC1):c.515T>A (p.Val172Glu) rs751092692
NM_000368.4(TSC1):c.518C>T (p.Ala173Val) rs777484049
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.552G>C (p.Val184=) rs118203397
NM_000368.4(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.4(TSC1):c.568C>T (p.Arg190Cys) rs118203400
NM_000368.4(TSC1):c.574T>C (p.Tyr192His) rs786202831
NM_000368.4(TSC1):c.615T>C (p.Ser205=) rs118203414
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.637dup (p.Leu213fs) rs1114167620
NM_000368.4(TSC1):c.64C>T (p.Arg22Trp) rs749030456
NM_000368.4(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.4(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.4(TSC1):c.737+3A>G rs118203439
NM_000368.4(TSC1):c.782A>C (p.Lys261Thr) rs371225009
NM_000368.4(TSC1):c.798C>T (p.Pro266=) rs770704462
NM_000368.4(TSC1):c.810A>G (p.Ser270=) rs142336706
NM_000368.4(TSC1):c.810_811AT[1] (p.Ser270_Tyr271insTer) rs118203451
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.853T>G (p.Phe285Val) rs377076733
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.87T>C (p.Phe29=) rs745384145
NM_000368.4(TSC1):c.899C>T (p.Thr300Ile) rs370916731
NM_000368.4(TSC1):c.89A>G (p.Lys30Arg) rs796053452
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293
NM_000368.4(TSC1):c.917G>A (p.Cys306Tyr) rs752290177
NM_000368.4(TSC1):c.923C>A (p.Thr308Asn) rs1554817432
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.965T>C (p.Met322Thr) rs1073123
NM_000368.4(TSC1):c.986_987CT[1] (p.Leu330fs) rs118203477
NM_000368.4(TSC1):c.989dup (p.Ser331fs) rs118203478

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.