ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance by Ambry Genetics

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Total variants: 105
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HGVS dbSNP
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.1091A>T (p.Asn364Ile) rs876658981
NM_000368.4(TSC1):c.110G>A (p.Arg37His) rs750441497
NM_000368.4(TSC1):c.1123A>G (p.Lys375Glu) rs1564487989
NM_000368.4(TSC1):c.1178C>T (p.Thr393Ile) rs201452238
NM_000368.4(TSC1):c.1238A>G (p.Gln413Arg) rs1060503218
NM_000368.4(TSC1):c.1283C>T (p.Ala428Val) rs1554816420
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.1369A>C (p.Ser457Arg) rs587778722
NM_000368.4(TSC1):c.1439-4T>C rs762473323
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.1591G>A (p.Val531Met)
NM_000368.4(TSC1):c.1678G>A (p.Gly560Ser) rs746304922
NM_000368.4(TSC1):c.1679G>A (p.Gly560Asp) rs1395737285
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.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1751G>C (p.Ser584Thr) rs786203799
NM_000368.4(TSC1):c.1819C>T (p.Leu607Phe) rs1554815795
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.1967G>C (p.Gly656Ala) rs1554815701
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.208A>G (p.Lys70Glu) rs876658838
NM_000368.4(TSC1):c.213C>A (p.His71Gln) rs765578482
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.2303G>A (p.Arg768His) rs1033725987
NM_000368.4(TSC1):c.2312T>C (p.Met771Thr) rs760208449
NM_000368.4(TSC1):c.2323C>T (p.Leu775Phe) rs868755168
NM_000368.4(TSC1):c.2361G>C (p.Glu787Asp) rs1564477079
NM_000368.4(TSC1):c.2372A>G (p.Asn791Ser) rs876660894
NM_000368.4(TSC1):c.2380C>A (p.Gln794Lys)
NM_000368.4(TSC1):c.2485A>C (p.Ser829Arg) rs118203699
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.2654G>A (p.Arg885Gln) rs200514807
NM_000368.4(TSC1):c.2665_2666delinsAT (p.Glu889Ile) rs587778724
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.2755A>C (p.Lys919Gln) rs1319954878
NM_000368.4(TSC1):c.2816G>T (p.Gly939Val) rs1350545510
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.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.3023A>G (p.Asn1008Ser) rs1263094349
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
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.3107G>A (p.Gly1036Glu) rs774196458
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.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.4(TSC1):c.3185G>A (p.Arg1062Gln) rs755396992
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.3290G>A (p.Arg1097His) rs118203750
NM_000368.4(TSC1):c.3296A>G (p.Lys1099Arg) rs876660132
NM_000368.4(TSC1):c.3309G>C (p.Gln1103His) rs1474184918
NM_000368.4(TSC1):c.3386C>T (p.Ala1129Val) rs772233665
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.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.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.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.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.556G>A (p.Ala186Thr) rs1279777367
NM_000368.4(TSC1):c.574T>C (p.Tyr192His) rs786202831
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.737+3A>G rs118203439
NM_000368.4(TSC1):c.782A>C (p.Lys261Thr) rs371225009
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.862C>T (p.Arg288Cys) rs770653972
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.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

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