ClinVar Miner

List of variants in gene TSC1 reported as uncertain significance for not provided

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Total variants: 77
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HGVS dbSNP
NM_000368.4(TSC1):c.-144G>A rs796053468
NM_000368.4(TSC1):c.1001C>T (p.Ser334Leu) rs118203481
NM_000368.4(TSC1):c.1030-14T>A rs180810228
NM_000368.4(TSC1):c.1038T>C (p.Leu346=) rs753360364
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.1109C>T (p.Ser370Leu) rs796053457
NM_000368.4(TSC1):c.1139C>G (p.Thr380Ser) rs1064796512
NM_000368.4(TSC1):c.1163T>C (p.Leu388Pro) rs377598226
NM_000368.4(TSC1):c.121C>A (p.Leu41Ile) rs118203334
NM_000368.4(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557
NM_000368.4(TSC1):c.1332A>G (p.Ser444=) rs773003016
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1550G>A (p.Arg517Gln) rs371908551
NM_000368.4(TSC1):c.1589G>C (p.Ser530Thr) rs368481360
NM_000368.4(TSC1):c.1600G>A (p.Glu534Lys) rs796053458
NM_000368.4(TSC1):c.1648C>G (p.Gln550Glu) rs118203553
NM_000368.4(TSC1):c.1670T>C (p.Leu557Pro) rs1064796040
NM_000368.4(TSC1):c.167C>T (p.Pro56Leu) rs750512029
NM_000368.4(TSC1):c.1721C>G (p.Thr574Ser) rs548002938
NM_000368.4(TSC1):c.1775C>T (p.Thr592Met) rs775869914
NM_000368.4(TSC1):c.1795G>A (p.Gly599Arg) rs761959210
NM_000368.4(TSC1):c.1811A>G (p.Tyr604Cys) rs1057522817
NM_000368.4(TSC1):c.1898G>A (p.Gly633Glu) rs1554815746
NM_000368.4(TSC1):c.1921C>T (p.Pro641Ser) rs374222196
NM_000368.4(TSC1):c.1943T>C (p.Val648Ala) rs771341361
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.1997+5G>C rs1554815679
NM_000368.4(TSC1):c.201A>G (p.Pro67=) rs371555137
NM_000368.4(TSC1):c.2026T>A (p.Trp676Arg) rs748901883
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.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2077G>C (p.Asp693His) rs397514800
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.2162G>A (p.Arg721His) rs769566267
NM_000368.4(TSC1):c.2171T>C (p.Ile724Thr) rs796053459
NM_000368.4(TSC1):c.2375A>G (p.Gln792Arg) rs796053460
NM_000368.4(TSC1):c.23G>C (p.Gly8Ala) rs1269896419
NM_000368.4(TSC1):c.2654G>A (p.Arg885Gln) rs200514807
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.2932C>G (p.Leu978Val) rs397514859
NM_000368.4(TSC1):c.2995G>A (p.Gly999Arg) rs780224196
NM_000368.4(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164
NM_000368.4(TSC1):c.304T>C (p.Ser102Pro) rs796053453
NM_000368.4(TSC1):c.3086G>T (p.Ser1029Ile) rs796053450
NM_000368.4(TSC1):c.3125G>T (p.Ser1042Ile) rs148931779
NM_000368.4(TSC1):c.3129_3130dup (p.Glu1044fs) rs1554812845
NM_000368.4(TSC1):c.3130G>A (p.Glu1044Lys) rs796053462
NM_000368.4(TSC1):c.3250T>C (p.Ser1084Pro) rs796053463
NM_000368.4(TSC1):c.3278G>A (p.Arg1093Gln) rs550526986
NM_000368.4(TSC1):c.3289C>T (p.Arg1097Cys) rs779599439
NM_000368.4(TSC1):c.3311G>T (p.Cys1104Phe) rs796053467
NM_000368.4(TSC1):c.3347G>A (p.Ser1116Asn) rs764140399
NM_000368.4(TSC1):c.3373T>C (p.Leu1125=) rs1157060310
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.363+3_363+18del16 rs1554820251
NM_000368.4(TSC1):c.365T>C (p.Met122Thr) rs796053454
NM_000368.4(TSC1):c.379G>A (p.Val127Ile) rs372215435
NM_000368.4(TSC1):c.425T>C (p.Met142Thr) rs886042190
NM_000368.4(TSC1):c.479G>A (p.Arg160His) rs749979841
NM_000368.4(TSC1):c.508+3A>G rs1554819862
NM_000368.4(TSC1):c.532G>A (p.Val178Ile) rs118203395
NM_000368.4(TSC1):c.541C>T (p.His181Tyr) rs1057524690
NM_000368.4(TSC1):c.54G>C (p.Met18Ile) rs940292214
NM_000368.4(TSC1):c.692C>T (p.Pro231Leu) rs1322586198
NM_000368.4(TSC1):c.737G>A (p.Arg246Lys) rs118203436
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.851G>A (p.Arg284His) rs151309813
NM_000368.4(TSC1):c.898A>G (p.Thr300Ala) rs796053456
NM_000368.4(TSC1):c.913G>A (p.Gly305Arg) rs118203468
NM_000368.4(TSC1):c.917G>A (p.Cys306Tyr) rs752290177
NM_000368.4(TSC1):c.941C>T (p.Thr314Met) rs373454700
NM_000368.4(TSC1):c.946C>T (p.Arg316Trp) rs535868591
NM_000368.4(TSC1):c.947G>A (p.Arg316Gln) rs375956049

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