ClinVar Miner

List of variants in gene TSC1 studied for Focal cortical dysplasia type II

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Gene type:
ClinVar version:
Total variants: 193
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HGVS dbSNP
NM_000368.4(TSC1):c.*1000A>G rs886063610
NM_000368.4(TSC1):c.*1050T>C rs530042727
NM_000368.4(TSC1):c.*1052G>A rs562950766
NM_000368.4(TSC1):c.*106A>G rs886063620
NM_000368.4(TSC1):c.*107T>C rs116917669
NM_000368.4(TSC1):c.*1089G>A rs886063609
NM_000368.4(TSC1):c.*1275T>G rs2809244
NM_000368.4(TSC1):c.*1322C>T rs2809243
NM_000368.4(TSC1):c.*1372T>G rs58612431
NM_000368.4(TSC1):c.*1468C>T rs72759433
NM_000368.4(TSC1):c.*1487C>T rs79277527
NM_000368.4(TSC1):c.*1488C>T rs739442
NM_000368.4(TSC1):c.*1507G>A rs739441
NM_000368.4(TSC1):c.*1508A>G rs552190342
NM_000368.4(TSC1):c.*1519C>T rs886063608
NM_000368.4(TSC1):c.*1519delC rs886063607
NM_000368.4(TSC1):c.*1541dupT rs748099884
NM_000368.4(TSC1):c.*1612C>A rs886063605
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.*1934A>G rs10491534
NM_000368.4(TSC1):c.*1969T>C rs886063604
NM_000368.4(TSC1):c.*1970G>A rs886063603
NM_000368.4(TSC1):c.*198T>C rs7037703
NM_000368.4(TSC1):c.*2022G>T rs568052856
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.*2213C>A rs539030496
NM_000368.4(TSC1):c.*2228G>A rs528833042
NM_000368.4(TSC1):c.*2364T>A rs886063602
NM_000368.4(TSC1):c.*2418G>A rs114415181
NM_000368.4(TSC1):c.*2439C>A rs886063601
NM_000368.4(TSC1):c.*2446A>G rs558966777
NM_000368.4(TSC1):c.*2461G>A rs73552806
NM_000368.4(TSC1):c.*2475C>A rs886063600
NM_000368.4(TSC1):c.*2558A>G rs115516164
NM_000368.4(TSC1):c.*2576T>C rs886063599
NM_000368.4(TSC1):c.*2615C>A rs886063598
NM_000368.4(TSC1):c.*2632A>G rs886063597
NM_000368.4(TSC1):c.*2637C>G rs538802838
NM_000368.4(TSC1):c.*2638C>T rs373845353
NM_000368.4(TSC1):c.*2644G>T rs886063596
NM_000368.4(TSC1):c.*2647C>T rs886063595
NM_000368.4(TSC1):c.*2651G>T rs55660990
NM_000368.4(TSC1):c.*2658G>T rs886063594
NM_000368.4(TSC1):c.*2679T>C rs886063593
NM_000368.4(TSC1):c.*2691A>T rs886063592
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.*2829A>G rs886063591
NM_000368.4(TSC1):c.*2872G>A rs2106345
NM_000368.4(TSC1):c.*2874G>A rs111832812
NM_000368.4(TSC1):c.*2893delA rs143549363
NM_000368.4(TSC1):c.*2893dupA rs143549363
NM_000368.4(TSC1):c.*2897A>G rs886063589
NM_000368.4(TSC1):c.*289delT rs11323835
NM_000368.4(TSC1):c.*2904G>T rs559978998
NM_000368.4(TSC1):c.*2949A>T rs886063588
NM_000368.4(TSC1):c.*295C>A rs113549339
NM_000368.4(TSC1):c.*295C>G rs113549339
NM_000368.4(TSC1):c.*298A>G rs886063619
NM_000368.4(TSC1):c.*3047C>A rs886063587
NM_000368.4(TSC1):c.*3063A>T rs886063586
NM_000368.4(TSC1):c.*3238T>C rs886063585
NM_000368.4(TSC1):c.*3239G>T rs886063584
NM_000368.4(TSC1):c.*3240G>T rs886063583
NM_000368.4(TSC1):c.*3248_*3250delCAG rs886063582
NM_000368.4(TSC1):c.*3284C>A rs886063581
NM_000368.4(TSC1):c.*3285G>T rs886063580
NM_000368.4(TSC1):c.*3330G>T rs553475307
NM_000368.4(TSC1):c.*333C>A rs886063618
NM_000368.4(TSC1):c.*3448C>T rs201092466
NM_000368.4(TSC1):c.*3531G>T rs886063579
NM_000368.4(TSC1):c.*3538A>G rs533324867
NM_000368.4(TSC1):c.*3543C>A rs886063578
NM_000368.4(TSC1):c.*3565C>T rs771494783
NM_000368.4(TSC1):c.*358C>T rs147729052
NM_000368.4(TSC1):c.*3658G>A rs886063577
NM_000368.4(TSC1):c.*3679G>A rs1050700
NM_000368.4(TSC1):c.*3729G>T rs543396172
NM_000368.4(TSC1):c.*3737C>A rs886063576
NM_000368.4(TSC1):c.*376C>T rs114064768
NM_000368.4(TSC1):c.*3830C>T rs544931538
NM_000368.4(TSC1):c.*3836G>A rs572231078
NM_000368.4(TSC1):c.*3924G>T rs886063575
NM_000368.4(TSC1):c.*3952A>G rs114454155
NM_000368.4(TSC1):c.*3987A>G rs886063574
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.*4072G>A rs886063573
NM_000368.4(TSC1):c.*4128G>A rs886063572
NM_000368.4(TSC1):c.*4159G>T rs886063571
NM_000368.4(TSC1):c.*4167C>A rs886063570
NM_000368.4(TSC1):c.*4193A>C rs886063569
NM_000368.4(TSC1):c.*4233G>T rs886063568
NM_000368.4(TSC1):c.*4248C>A rs886063567
NM_000368.4(TSC1):c.*4248C>T rs886063567
NM_000368.4(TSC1):c.*4254G>A rs139801034
NM_000368.4(TSC1):c.*4356C>T rs886063566
NM_000368.4(TSC1):c.*4385G>T rs552453527
NM_000368.4(TSC1):c.*4437G>A rs11553763
NM_000368.4(TSC1):c.*4447C>T rs112968492
NM_000368.4(TSC1):c.*448G>A rs886063617
NM_000368.4(TSC1):c.*4515G>A rs886063565
NM_000368.4(TSC1):c.*4622G>A rs886063564
NM_000368.4(TSC1):c.*4631delT rs60000611
NM_000368.4(TSC1):c.*4631dupT rs60000611
NM_000368.4(TSC1):c.*4763T>C rs79470094
NM_000368.4(TSC1):c.*4826A>C rs886063563
NM_000368.4(TSC1):c.*4845G>T rs886063562
NM_000368.4(TSC1):c.*4898G>A rs79220715
NM_000368.4(TSC1):c.*499C>T rs530003850
NM_000368.4(TSC1):c.*548C>A rs886063616
NM_000368.4(TSC1):c.*583C>A rs886063615
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.*682C>T rs75252898
NM_000368.4(TSC1):c.*817G>T rs886063614
NM_000368.4(TSC1):c.*824C>T rs886063613
NM_000368.4(TSC1):c.*841C>T rs149902841
NM_000368.4(TSC1):c.*859G>T rs886063612
NM_000368.4(TSC1):c.*913C>T rs117425923
NM_000368.4(TSC1):c.*920C>A rs886063611
NM_000368.4(TSC1):c.*941A>G rs189368676
NM_000368.4(TSC1):c.-129A>T rs116951280
NM_000368.4(TSC1):c.-166A>G rs886063626
NM_000368.4(TSC1):c.-174A>T rs886063627
NM_000368.4(TSC1):c.-214C>T rs886063628
NM_000368.4(TSC1):c.-227G>A rs886063629
NM_000368.4(TSC1):c.-242G>T rs571288003
NM_000368.4(TSC1):c.-35G>A rs370122384
NM_000368.4(TSC1):c.-80-10T>C rs886063625
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.108C>T (p.Asp36=) rs886063624
NM_000368.4(TSC1):c.1208C>T (p.Ser403Leu) rs118203504
NM_000368.4(TSC1):c.1335A>G (p.Glu445=) rs7862221
NM_000368.4(TSC1):c.1342C>T (p.Pro448Ser) rs118203518
NM_000368.4(TSC1):c.1438+6G>A rs118203530
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.1745C>T (p.Thr582Ile) rs886063623
NM_000368.4(TSC1):c.1760A>G (p.Lys587Arg) rs118203576
NM_000368.4(TSC1):c.1773G>A (p.Pro591=) rs146578402
NM_000368.4(TSC1):c.1882T>C (p.Leu628=) rs375534013
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.2209-3T>C rs368309229
NM_000368.4(TSC1):c.2209-9C>G rs118203660
NM_000368.4(TSC1):c.2285A>G (p.Asn762Ser) rs118203670
NM_000368.4(TSC1):c.231C>T (p.Asn77=) rs397514809
NM_000368.4(TSC1):c.2556G>C (p.Leu852=) rs770381040
NM_000368.4(TSC1):c.2626-3_2626-2insTA rs760737807
NM_000368.4(TSC1):c.2626-3delC rs886063622
NM_000368.4(TSC1):c.2626-4_2626-3dupTC rs1554813638
NM_000368.4(TSC1):c.2626-4delT rs5901000
NM_000368.4(TSC1):c.2626-6_2626-4dupTTT rs5901000
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.2829C>T (p.Ala943=) rs4962081
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.3123C>G (p.Ser1041Arg) rs753374839
NM_000368.4(TSC1):c.3252A>C (p.Ser1084=) rs886063621
NM_000368.4(TSC1):c.3282G>A (p.Glu1094=) rs116747861
NM_000368.4(TSC1):c.3324C>T (p.Gly1108=) rs35593170
NM_000368.4(TSC1):c.3387C>T (p.Ala1129=) rs200200869
NM_000368.4(TSC1):c.3428C>T (p.Pro1143Leu) rs201867031
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.610C>T (p.Arg204Cys) rs1060505021
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.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
NM_000368.4(TSC1):c.965T>C (p.Met322Thr) rs1073123

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