ClinVar Miner

List of variants in gene TSC2 reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 162
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HGVS dbSNP
NM_000548.3(TSC2):c.5160+2_5160+3delTG rs137854036
NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs) rs137854314
NM_000548.4(TSC2):c.4495_4499delTTCGT (p.Phe1499Valfs) rs886041905
NM_000548.4(TSC2):c.4662+2_4662+6delTGAGG rs796053520
NM_000548.5(TSC2):c.1096G>T (p.Glu366Ter) rs45517148
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.113_114dup (p.Ile39fs) rs137854355
NM_000548.5(TSC2):c.1194del (p.Asn398fs) rs886039736
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) rs773920155
NM_000548.5(TSC2):c.1258G>T (p.Glu420Ter) rs796053484
NM_000548.5(TSC2):c.1287T>A (p.Tyr429Ter) rs45493394
NM_000548.5(TSC2):c.131_132del (p.Ile44fs) rs1064793853
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.134_138+1delinsC rs1057518535
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.138_138+1del rs137854117
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1535_1557del (p.Leu512fs) rs796053503
NM_000548.5(TSC2):c.1563dup (p.His522fs) rs137854023
NM_000548.5(TSC2):c.1760_1761del (p.Val586_Tyr587insTer) rs137854371
NM_000548.5(TSC2):c.1761T>G (p.Tyr587Ter) rs753179817
NM_000548.5(TSC2):c.1806C>G (p.Tyr602Ter) rs367553206
NM_000548.5(TSC2):c.1831C>T (p.Arg611Trp) rs45469298
NM_000548.5(TSC2):c.1832G>A (p.Arg611Gln) rs28934872
NM_000548.5(TSC2):c.1839+1G>T rs45438400
NM_000548.5(TSC2):c.1875_1876del (p.Leu626fs) rs397515073
NM_000548.5(TSC2):c.1929C>G (p.Tyr643Ter) rs368710573
NM_000548.5(TSC2):c.1938C>A (p.Cys646Ter) rs745414854
NM_000548.5(TSC2):c.1946+1G>T rs397514994
NM_000548.5(TSC2):c.1946+2T>A rs397515247
NM_000548.5(TSC2):c.1954G>T (p.Glu652Ter) rs1555505954
NM_000548.5(TSC2):c.1957A>T (p.Arg653Ter) rs764225717
NM_000548.5(TSC2):c.2065_2066CT[1] (p.Phe690fs) rs1064793524
NM_000548.5(TSC2):c.2071del (p.Arg691fs) rs137854071
NM_000548.5(TSC2):c.2090dup (p.Leu697fs) rs137854189
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2105_2108del (p.Asp702fs) rs886041563
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2221-1G>A rs45517218
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.2328C>A (p.Tyr776Ter) rs45517225
NM_000548.5(TSC2):c.2353C>T (p.Gln785Ter) rs45517226
NM_000548.5(TSC2):c.2356-1G>A rs45481704
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2491dup (p.Thr831fs) rs1555507623
NM_000548.5(TSC2):c.2546-1G>A rs45468292
NM_000548.5(TSC2):c.2579_2580del (p.Phe860fs) rs886042032
NM_000548.5(TSC2):c.2639+1G>A rs45517252
NM_000548.5(TSC2):c.2640-1G>A rs397515203
NM_000548.5(TSC2):c.2640-2A>G rs137854380
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2690T>C (p.Phe897Ser) rs45517255
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp) rs45517258
NM_000548.5(TSC2):c.2714G>A (p.Arg905Gln) rs45517259
NM_000548.5(TSC2):c.2761_2762CT[3] (p.Leu922fs) rs1555508917
NM_000548.5(TSC2):c.2859dup (p.Lys954fs) rs796053504
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3098dup (p.Tyr1033Ter) rs137854015
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3131+1G>A rs45506401
NM_000548.5(TSC2):c.3131+2T>A rs397515036
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) rs796053509
NM_000548.5(TSC2):c.3182_3183insAACC (p.Val1062fs) rs1555510579
NM_000548.5(TSC2):c.3212_3213del (p.Thr1071fs) rs1057518448
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter) rs397515087
NM_000548.5(TSC2):c.3259G>T (p.Glu1087Ter) rs1085307762
NM_000548.5(TSC2):c.328C>T (p.Gln110Ter) rs1064796511
NM_000548.5(TSC2):c.32del (p.Gly10_Leu11insTer) rs796053515
NM_000548.5(TSC2):c.3395C>A (p.Ser1132Ter) rs137854074
NM_000548.5(TSC2):c.3397+5G>A rs45501492
NM_000548.5(TSC2):c.3404del (p.His1135fs) rs1064793464
NM_000548.5(TSC2):c.3412C>T (p.Arg1138Ter) rs45451497
NM_000548.5(TSC2):c.3442C>T (p.Gln1148Ter) rs45477491
NM_000548.5(TSC2):c.3448dup (p.Leu1150fs) rs1555511352
NM_000548.5(TSC2):c.3452del (p.Gly1151fs) rs1131691419
NM_000548.5(TSC2):c.352dup (p.Val118fs) rs137853982
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3565del (p.Leu1189fs) rs137854121
NM_000548.5(TSC2):c.358A>T (p.Arg120Ter) rs1131691602
NM_000548.5(TSC2):c.3598C>T (p.Arg1200Trp) rs45438205
NM_000548.5(TSC2):c.3624G>A (p.Trp1208Ter) rs796053496
NM_000548.5(TSC2):c.3653del (p.Pro1218fs) rs1057518201
NM_000548.5(TSC2):c.3685C>T (p.Gln1229Ter) rs45517306
NM_000548.5(TSC2):c.3693_3696del (p.Ser1232fs) rs137853993
NM_000548.5(TSC2):c.3727G>T (p.Glu1243Ter) rs1057520759
NM_000548.5(TSC2):c.3736del (p.Asp1246fs) rs796053516
NM_000548.5(TSC2):c.3738dup (p.Thr1247fs) rs796053506
NM_000548.5(TSC2):c.3739del (p.Thr1247fs) rs796053517
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3841_3853del (p.Ser1281fs) rs796053518
NM_000548.5(TSC2):c.3904G>T (p.Glu1302Ter) rs886039680
NM_000548.5(TSC2):c.3952G>T (p.Glu1318Ter) rs1064793797
NM_000548.5(TSC2):c.4006-1G>A rs1085307853
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4099_4100insT (p.Gly1367fs) rs1064793573
NM_000548.5(TSC2):c.412G>T (p.Glu138Ter) rs1173061992
NM_000548.5(TSC2):c.4149dup (p.Lys1384fs) rs1555514063
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4183C>T (p.Gln1395Ter) rs886041772
NM_000548.5(TSC2):c.4207del (p.Asp1403fs) rs137854273
NM_000548.5(TSC2):c.4223del (p.Gly1408fs) rs137854427
NM_000548.5(TSC2):c.4255C>T (p.Gln1419Ter) rs45437193
NM_000548.5(TSC2):c.4276dup (p.Glu1426fs) rs886041573
NM_000548.5(TSC2):c.428del (p.Phe143fs) rs1057518508
NM_000548.5(TSC2):c.4316del (p.Gly1439fs) rs137853988
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4493+1G>A rs1057518230
NM_000548.5(TSC2):c.4507C>T (p.Gln1503Ter) rs45517348
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4541C>G (p.Ser1514Ter) rs74363455
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4544del (p.Asn1515fs) rs886041789
NM_000548.5(TSC2):c.4546_4549del (p.Lys1516fs) rs886041643
NM_000548.5(TSC2):c.4571C>A (p.Ser1524Ter) rs1441428144
NM_000548.5(TSC2):c.4573C>T (p.Gln1525Ter) rs45517352
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) rs886041919
NM_000548.5(TSC2):c.4730del (p.Gly1577fs) rs397515173
NM_000548.5(TSC2):c.482-1G>A rs137854306
NM_000548.5(TSC2):c.4829G>A (p.Trp1610Ter) rs45517371
NM_000548.5(TSC2):c.4878_4881del (p.Thr1627fs) rs137854050
NM_000548.5(TSC2):c.4881del (p.Lys1628fs) rs1064793646
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4927A>C (p.Asn1643His) rs45517379
NM_000548.5(TSC2):c.4936G>A (p.Val1646Met) rs1064796970
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.496C>T (p.Gln166Ter) rs45517111
NM_000548.5(TSC2):c.4993C>T (p.Gln1665Ter) rs45448101
NM_000548.5(TSC2):c.500G>A (p.Trp167Ter) rs1131691794
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5069-2A>C rs45487291
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.5(TSC2):c.5150T>C (p.Leu1717Pro) rs45517398
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+1G>T rs45517399
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.5169dup (p.Gln1724fs) rs1555440437
NM_000548.5(TSC2):c.5203dup (p.Ile1735fs) rs886041940
NM_000548.5(TSC2):c.5214del (p.Lys1739fs) rs397515139
NM_000548.5(TSC2):c.5219G>A (p.Trp1740Ter) rs137854219
NM_000548.5(TSC2):c.5220G>A (p.Trp1740Ter) rs45517411
NM_000548.5(TSC2):c.5227C>T (p.Arg1743Trp) rs45517412
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln) rs45507199
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5262del (p.Cys1755fs) rs796053507
NM_000548.5(TSC2):c.5289del (p.Ser1764fs) rs1555441221
NM_000548.5(TSC2):c.5389_5392dup (p.Ser1798fs) rs1085307666
NM_000548.5(TSC2):c.581dup (p.Tyr194Ter) rs1555498221
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.730T>C (p.Cys244Arg) rs137854101
NM_000548.5(TSC2):c.774+1G>A rs45517128
NM_000548.5(TSC2):c.824dup (p.Asn275fs) rs886041922
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.930T>A (p.Tyr310Ter) rs886041758
NM_000548.5(TSC2):c.976-15G>A rs45517150

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