ClinVar Miner

List of variants in gene TSC2 reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 119
Download table as spreadsheet
HGVS dbSNP
NM_000548.5(TSC2):c.-30+1G>T rs587778004
NM_000548.5(TSC2):c.-30+5G>T rs991520392
NM_000548.5(TSC2):c.1093A>G (p.Ile365Val) rs370403197
NM_000548.5(TSC2):c.1096G>A (p.Glu366Lys) rs45517148
NM_000548.5(TSC2):c.1205G>T (p.Gly402Val) rs777172185
NM_000548.5(TSC2):c.1214A>T (p.Glu405Val) rs1057518321
NM_000548.5(TSC2):c.1257+20G>A rs1436234038
NM_000548.5(TSC2):c.1298C>T (p.Ser433Phe) rs397515187
NM_000548.5(TSC2):c.1307C>T (p.Pro436Leu) rs796053485
NM_000548.5(TSC2):c.132A>G (p.Ile44Met) rs796053508
NM_000548.5(TSC2):c.1346T>A (p.Met449Lys) rs1057520875
NM_000548.5(TSC2):c.1381G>A (p.Val461Met) rs796053486
NM_000548.5(TSC2):c.1443+5G>A rs1057521562
NM_000548.5(TSC2):c.1477C>T (p.Leu493Phe) rs45517177
NM_000548.5(TSC2):c.1481C>T (p.Ser494Phe) rs751984707
NM_000548.5(TSC2):c.1534C>G (p.Leu512Val) rs772834557
NM_000548.5(TSC2):c.1593C>G (p.Ile531Met) rs45517180
NM_000548.5(TSC2):c.1594G>A (p.Glu532Lys) rs149222396
NM_000548.5(TSC2):c.1610G>A (p.Arg537His) rs372681603
NM_000548.5(TSC2):c.1661C>T (p.Ser554Leu) rs45471596
NM_000548.5(TSC2):c.1766T>A (p.Met589Lys) rs796053487
NM_000548.5(TSC2):c.1796A>G (p.Lys599Arg) rs45517202
NM_000548.5(TSC2):c.1889G>A (p.Gly630Asp) rs1057520642
NM_000548.5(TSC2):c.1915C>T (p.Arg639Trp) rs766451267
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223
NM_000548.5(TSC2):c.2050G>A (p.Val684Met) rs779275341
NM_000548.5(TSC2):c.2054C>G (p.Pro685Arg) rs959165669
NM_000548.5(TSC2):c.2071C>T (p.Arg691Cys) rs760489473
NM_000548.5(TSC2):c.2072G>T (p.Arg691Leu) rs370553131
NM_000548.5(TSC2):c.2092A>G (p.Lys698Glu) rs796053510
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310
NM_000548.5(TSC2):c.2237C>T (p.Thr746Ile) rs767770242
NM_000548.5(TSC2):c.2246G>A (p.Arg749Gln) rs766442736
NM_000548.5(TSC2):c.226C>T (p.His76Tyr) rs574779350
NM_000548.5(TSC2):c.2356-5T>G rs796053488
NM_000548.5(TSC2):c.2356C>T (p.Arg786Cys) rs767252128
NM_000548.5(TSC2):c.2357G>A (p.Arg786His) rs796053511
NM_000548.5(TSC2):c.2424G>T (p.Leu808Phe) rs796053489
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2486A>C (p.Lys829Thr) rs1555507617
NM_000548.5(TSC2):c.2545A>G (p.Thr849Ala) rs781713438
NM_000548.5(TSC2):c.2656G>C (p.Val886Leu) rs999523698
NM_000548.5(TSC2):c.2678T>C (p.Ile893Thr) rs796053491
NM_000548.5(TSC2):c.2756A>G (p.Asn919Ser) rs780057014
NM_000548.5(TSC2):c.2821A>G (p.Asn941Asp) rs878854087
NM_000548.5(TSC2):c.2838-3T>G rs553942147
NM_000548.5(TSC2):c.2868del (p.Gly956_Leu957insTer) rs1057518322
NM_000548.5(TSC2):c.2892_2895del (p.Lys964fs) rs1555509491
NM_000548.5(TSC2):c.2932C>T (p.Arg978Cys) rs768241596
NM_000548.5(TSC2):c.2933G>A (p.Arg978His) rs876660733
NM_000548.5(TSC2):c.2966+15G>A rs779884344
NM_000548.5(TSC2):c.3086T>C (p.Met1029Thr) rs1057522974
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242
NM_000548.5(TSC2):c.3106T>G (p.Ser1036Ala) rs45517281
NM_000548.5(TSC2):c.3117G>A (p.Thr1039=) rs747104674
NM_000548.5(TSC2):c.3145G>A (p.Glu1049Lys) rs796053492
NM_000548.5(TSC2):c.3176C>G (p.Thr1059Ser) rs753205147
NM_000548.5(TSC2):c.3271G>A (p.Gly1091Ser) rs796053493
NM_000548.5(TSC2):c.3278A>G (p.Glu1093Gly) rs796053494
NM_000548.5(TSC2):c.3287C>T (p.Ser1096Phe) rs140772300
NM_000548.5(TSC2):c.3365G>C (p.Arg1122Pro) rs369536711
NM_000548.5(TSC2):c.3428A>T (p.Asp1143Val) rs796053495
NM_000548.5(TSC2):c.3454A>C (p.Ser1152Arg) rs772215032
NM_000548.5(TSC2):c.3472C>G (p.Pro1158Ala) rs759350468
NM_000548.5(TSC2):c.3485C>T (p.Pro1162Leu) rs778069675
NM_000548.5(TSC2):c.3532C>G (p.Gln1178Glu) rs45517297
NM_000548.5(TSC2):c.3535G>A (p.Glu1179Lys) rs45483391
NM_000548.5(TSC2):c.3779C>T (p.Thr1260Met) rs776738338
NM_000548.5(TSC2):c.3788C>T (p.Pro1263Leu) rs1057523452
NM_000548.5(TSC2):c.3799C>T (p.Pro1267Ser) rs757010959
NM_000548.5(TSC2):c.3815-3C>T rs770054036
NM_000548.5(TSC2):c.3817_3820dup (p.Ser1274fs) rs1555512845
NM_000548.5(TSC2):c.3821_3833del (p.Ser1274fs) rs1064794126
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041
NM_000548.5(TSC2):c.3939G>T (p.Glu1313Asp) rs149340262
NM_000548.5(TSC2):c.3994G>C (p.Ala1332Pro) rs1555513574
NM_000548.5(TSC2):c.4005+4_4005+7dup rs796053519
NM_000548.5(TSC2):c.4030G>A (p.Glu1344Lys) rs397515035
NM_000548.5(TSC2):c.4045G>A (p.Ala1349Thr) rs146239734
NM_000548.5(TSC2):c.4046C>T (p.Ala1349Val) rs201979616
NM_000548.5(TSC2):c.4067G>T (p.Gly1356Val) rs747104864
NM_000548.5(TSC2):c.4192C>G (p.Leu1398Val) rs1060500928
NM_000548.5(TSC2):c.4223G>T (p.Gly1408Val) rs202068995
NM_000548.5(TSC2):c.4312C>T (p.Arg1438Trp) rs778925833
NM_000548.5(TSC2):c.4321C>T (p.Pro1441Ser) rs201710642
NM_000548.5(TSC2):c.4352G>A (p.Arg1451His) rs142848358
NM_000548.5(TSC2):c.4355C>T (p.Ser1452Leu) rs45517339
NM_000548.5(TSC2):c.4426G>A (p.Glu1476Lys) rs376946970
NM_000548.5(TSC2):c.4432G>C (p.Asp1478His) rs45517343
NM_000548.5(TSC2):c.4520C>T (p.Ser1507Phe) rs746246149
NM_000548.5(TSC2):c.4549C>A (p.Pro1517Thr) rs1057522800
NM_000548.5(TSC2):c.4729G>A (p.Gly1577Ser) rs796053499
NM_000548.5(TSC2):c.4900C>T (p.Arg1634Cys) rs760457821
NM_000548.5(TSC2):c.4998C>A (p.Phe1666Leu) rs757221445
NM_000548.5(TSC2):c.5039G>A (p.Cys1680Tyr) rs150558493
NM_000548.5(TSC2):c.5110T>A (p.Ser1704Thr) rs45474691
NM_000548.5(TSC2):c.5159A>C (p.Asn1720Thr) rs796053500
NM_000548.5(TSC2):c.5160+6_5160+27del rs1555440243
NM_000548.5(TSC2):c.5161-15_5161-3del rs1555440326
NM_000548.5(TSC2):c.5161A>G (p.Met1721Val) rs45517407
NM_000548.5(TSC2):c.5186G>A (p.Arg1729His) rs760395277
NM_000548.5(TSC2):c.5191A>G (p.Asn1731Asp) rs1555440500
NM_000548.5(TSC2):c.5221A>G (p.Ile1741Val) rs140526185
NM_000548.5(TSC2):c.5234G>A (p.Arg1745His) rs766093661
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603
NM_000548.5(TSC2):c.5252G>A (p.Arg1751His) rs373365980
NM_000548.5(TSC2):c.5261T>G (p.Ile1754Ser) rs762320484
NM_000548.5(TSC2):c.5266G>A (p.Glu1756Lys) rs375075952
NM_000548.5(TSC2):c.5318A>G (p.His1773Arg) rs45517418
NM_000548.5(TSC2):c.5342C>T (p.Pro1781Leu) rs878854119
NM_000548.5(TSC2):c.5347G>A (p.Glu1783Lys) rs777166275
NM_000548.5(TSC2):c.5363A>G (p.Tyr1788Cys) rs397515221
NM_000548.5(TSC2):c.5391_5393CTC[1] (p.Ser1799del) rs796053480
NM_000548.5(TSC2):c.560A>G (p.Asn187Ser) rs45505405
NM_000548.5(TSC2):c.648+6T>C rs372007135
NM_000548.5(TSC2):c.727C>T (p.Leu243Phe) rs796053502
NM_000548.5(TSC2):c.77C>T (p.Pro26Leu) rs1555494636
NM_000548.5(TSC2):c.782G>A (p.Arg261Gln) rs45502703
NM_000548.5(TSC2):c.953C>T (p.Ser318Phe) rs1060500970

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.