ClinVar Miner

List of variants in gene TSC1 reported as likely benign for Focal cortical dysplasia type II

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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP
NM_000368.4(TSC1):c.*1050T>C rs530042727
NM_000368.4(TSC1):c.*1052G>A rs562950766
NM_000368.4(TSC1):c.*107T>C rs116917669
NM_000368.4(TSC1):c.*1468C>T rs72759433
NM_000368.4(TSC1):c.*1680G>A rs532372427
NM_000368.4(TSC1):c.*1785A>G rs74362385
NM_000368.4(TSC1):c.*1861G>A rs561511694
NM_000368.4(TSC1):c.*1902T>G rs142038787
NM_000368.4(TSC1):c.*198T>C rs7037703
NM_000368.4(TSC1):c.*2094G>A rs534649062
NM_000368.4(TSC1):c.*2109C>T rs73552808
NM_000368.4(TSC1):c.*2142T>C rs112314368
NM_000368.4(TSC1):c.*2168C>T rs532469694
NM_000368.4(TSC1):c.*2228G>A rs528833042
NM_000368.4(TSC1):c.*2418G>A rs114415181
NM_000368.4(TSC1):c.*2446A>G rs558966777
NM_000368.4(TSC1):c.*2461G>A rs73552806
NM_000368.4(TSC1):c.*2637C>G rs538802838
NM_000368.4(TSC1):c.*2638C>T rs373845353
NM_000368.4(TSC1):c.*2651G>T rs55660990
NM_000368.4(TSC1):c.*2708G>C rs150433809
NM_000368.4(TSC1):c.*2733A>G rs73552805
NM_000368.4(TSC1):c.*279T>G rs554637460
NM_000368.4(TSC1):c.*2872G>A rs2106345
NM_000368.4(TSC1):c.*2874G>A rs111832812
NM_000368.4(TSC1):c.*2893del rs143549363
NM_000368.4(TSC1):c.*2904G>T rs559978998
NM_000368.4(TSC1):c.*295C>A rs113549339
NM_000368.4(TSC1):c.*295C>G rs113549339
NM_000368.4(TSC1):c.*3448C>T rs201092466
NM_000368.4(TSC1):c.*3538A>G rs533324867
NM_000368.4(TSC1):c.*358C>T rs147729052
NM_000368.4(TSC1):c.*3729G>T rs543396172
NM_000368.4(TSC1):c.*3830C>T rs544931538
NM_000368.4(TSC1):c.*3836G>A rs572231078
NM_000368.4(TSC1):c.*3952A>G rs114454155
NM_000368.4(TSC1):c.*3988G>A rs563835484
NM_000368.4(TSC1):c.*3997G>A rs148982924
NM_000368.4(TSC1):c.*4057G>A rs17149898
NM_000368.4(TSC1):c.*405A>G rs560193480
NM_000368.4(TSC1):c.*4254G>A rs139801034
NM_000368.4(TSC1):c.*4385G>T rs552453527
NM_000368.4(TSC1):c.*4631del rs60000611
NM_000368.4(TSC1):c.*499C>T rs530003850
NM_000368.4(TSC1):c.*60T>G rs577329896
NM_000368.4(TSC1):c.*651C>G rs369911288
NM_000368.4(TSC1):c.*677G>C rs189890583
NM_000368.4(TSC1):c.*841C>T rs149902841
NM_000368.4(TSC1):c.*913C>T rs117425923
NM_000368.4(TSC1):c.*941A>G rs189368676
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-242G>T rs571288003
NM_000368.4(TSC1):c.-99C>T rs114755636
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.106+15A>G rs80258442
NM_000368.4(TSC1):c.1079C>A (p.Thr360Asn) rs118203493
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1460C>G (p.Ser487Cys) rs118203532
NM_000368.4(TSC1):c.1726T>C (p.Leu576=) rs118203567
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1936A>G (p.Met646Val) rs145741748
NM_000368.4(TSC1):c.1977G>A (p.Ala659=) rs35958226
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000368.4(TSC1):c.2194C>T (p.His732Tyr) rs118203657
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.2646C>T (p.Ala882=) rs118203720
NM_000368.4(TSC1):c.2696C>G (p.Thr899Ser) rs76801599
NM_000368.4(TSC1):c.273G>A (p.Ser91=) rs115097221
NM_000368.4(TSC1):c.2865C>T (p.Thr955=) rs45468995
NM_000368.4(TSC1):c.2965G>T (p.Ala989Ser) rs537585211
NM_000368.4(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3435G>A (p.Pro1145=) rs140352085
NM_000368.4(TSC1):c.346T>G (p.Leu116Val) rs199620268
NM_000368.4(TSC1):c.618T>C (p.His206=) rs118203415
NM_000368.4(TSC1):c.772G>A (p.Glu258Lys) rs118203450
NM_000368.4(TSC1):c.819T>G (p.Asp273Glu) rs148756522
NM_000368.4(TSC1):c.876C>T (p.Val292=) rs116756594
NM_000368.4(TSC1):c.915G>C (p.Gly305=) rs397515293

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