ClinVar Miner

List of variants in gene TSC2 reported as pathogenic for Tuberous sclerosis 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 225
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HGVS dbSNP
NC_000016.9:g.(?_2098588)_(2115636_?)del
NC_000016.9:g.(?_2098597)_(2115656_?)del
NC_000016.9:g.(?_2098597)_(2124416_?)del
NC_000016.9:g.(?_2098597)_(2130398_?)del
NC_000016.9:g.(?_2098611)_(2138617_?)del
NC_000016.9:g.(?_2098645)_(2130379_2131595)del
NC_000016.9:g.(?_2100381)_(2100507_?)del
NC_000016.9:g.(?_2100381)_(2115656_?)dup
NC_000016.9:g.(?_2100391)_(2100497_?)del
NC_000016.9:g.(?_2103323)_(2107460_?)del
NC_000016.9:g.(?_2103343)_(2110814_?)del
NC_000016.9:g.(?_2106177)_(2114448_?)del
NC_000016.9:g.(?_2106177)_(2124416_?)del
NC_000016.9:g.(?_2110651)_(2115656_?)dup
NC_000016.9:g.(?_2115500)_(2124416_?)del
NC_000016.9:g.(?_2122222)_(2127477_?)del
NC_000016.9:g.(?_2131590)_(2138617_?)del
NC_000016.9:g.(?_2137858)_(2138617_?)del
NC_000016.9:g.2124200_2138612dup
NM_000548.3(TSC2):c.2358_2359delCG (p.Glu787Aspfs) rs1555507462
NM_000548.3(TSC2):c.3884-497_5045del
NM_000548.3(TSC2):c.482_*102del
NM_000548.4(TSC2):c.136_138+1delAGAG rs137854117
NM_000548.4(TSC2):c.1600-?_1716+?del
NM_000548.4(TSC2):c.3401delG (p.Gly1134Alafs) rs137854314
NM_000548.5(TSC2):c.1047dup (p.Arg350Ter) rs1555500535
NM_000548.5(TSC2):c.1108C>T (p.Gln370Ter)
NM_000548.5(TSC2):c.1111C>T (p.Gln371Ter) rs45469099
NM_000548.5(TSC2):c.1119+1G>C rs45475793
NM_000548.5(TSC2):c.1145_1146del (p.Thr382fs) rs1567428094
NM_000548.5(TSC2):c.1160dup (p.Leu388fs) rs878854075
NM_000548.5(TSC2):c.1195G>T (p.Glu399Ter) rs773920155
NM_000548.5(TSC2):c.1249C>T (p.Gln417Ter) rs45517158
NM_000548.5(TSC2):c.1255C>T (p.Pro419Ser) rs45517159
NM_000548.5(TSC2):c.1257+1G>A rs397515066
NM_000548.5(TSC2):c.1257+1G>C
NM_000548.5(TSC2):c.1282del (p.Ser428fs) rs1555501373
NM_000548.5(TSC2):c.1322G>A (p.Trp441Ter) rs45515894
NM_000548.5(TSC2):c.133_136del (p.Leu45fs) rs137854360
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1348_1349GA[2] (p.Arg451fs) rs397515082
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter) rs45517169
NM_000548.5(TSC2):c.139-1G>A rs1567386603
NM_000548.5(TSC2):c.1432C>T (p.Gln478Ter) rs121964862
NM_000548.5(TSC2):c.1443+1G>T rs397515257
NM_000548.5(TSC2):c.1444-2A>G rs45517174
NM_000548.5(TSC2):c.1447G>T (p.Glu483Ter) rs397515297
NM_000548.5(TSC2):c.1474C>T (p.Gln492Ter) rs1060500931
NM_000548.5(TSC2):c.1502del (p.Asp501fs) rs1567437492
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter) rs45517179
NM_000548.5(TSC2):c.1549G>T (p.Glu517Ter) rs1555502518
NM_000548.5(TSC2):c.1559_1560AC[5] (p.His523fs) rs1555502530
NM_000548.5(TSC2):c.1582del (p.Leu528fs) rs1060499647
NM_000548.5(TSC2):c.1599+1G>A rs45517182
NM_000548.5(TSC2):c.1609dup (p.Arg537fs) rs1555503131
NM_000548.5(TSC2):c.1744_1748CACGC[3] (p.Arg585fs) rs1567457100
NM_000548.5(TSC2):c.1762_1763GA[1] (p.Glu588fs) rs1555505103
NM_000548.5(TSC2):c.1768_1769delinsG (p.Leu590fs)
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+2T>C rs1555505211
NM_000548.5(TSC2):c.1839G>C (p.Gln613His) rs1555505208
NM_000548.5(TSC2):c.1948del (p.Glu650Serfs)
NM_000548.5(TSC2):c.1953_1954AG[3] (p.Gly654fs) rs137854144
NM_000548.5(TSC2):c.2009del (p.Pro670fs) rs1060500934
NM_000548.5(TSC2):c.2056_2059dup (p.Ser687fs) rs137854337
NM_000548.5(TSC2):c.2086_2089delinsCG (p.Cys696fs) rs1555506201
NM_000548.5(TSC2):c.2098-1G>A rs45517212
NM_000548.5(TSC2):c.2108G>A (p.Trp703Ter) rs45517213
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2150T>G (p.Leu717Arg) rs45517214
NM_000548.5(TSC2):c.2194C>T (p.Gln732Ter) rs45517216
NM_000548.5(TSC2):c.2220+1G>T rs137854361
NM_000548.5(TSC2):c.2221-2A>G rs45502196
NM_000548.5(TSC2):c.2251C>T (p.Arg751Ter) rs45517222
NM_000548.5(TSC2):c.226-2A>G rs45517096
NM_000548.5(TSC2):c.2354_2355insC (p.Gln785fs)
NM_000548.5(TSC2):c.2355+1G>A rs45517227
NM_000548.5(TSC2):c.2355+2T>C rs45517228
NM_000548.5(TSC2):c.2355+2T>G
NM_000548.5(TSC2):c.2355+2_2355+5del rs137854250
NM_000548.5(TSC2):c.2356-1G>C
NM_000548.5(TSC2):c.2356-2A>C rs45517229
NM_000548.5(TSC2):c.2429_2461delinsC (p.Ile810fs) rs878854082
NM_000548.5(TSC2):c.2440G>T (p.Glu814Ter)
NM_000548.5(TSC2):c.246G>A (p.Trp82Ter) rs1567394860
NM_000548.5(TSC2):c.2539_2540del (p.Leu847fs) rs1060500938
NM_000548.5(TSC2):c.2639+1G>C rs45517252
NM_000548.5(TSC2):c.2661_2664del (p.Cys887fs) rs1060500914
NM_000548.5(TSC2):c.2666C>T (p.Ala889Val) rs137854155
NM_000548.5(TSC2):c.2688G>A (p.Trp896Ter) rs397514913
NM_000548.5(TSC2):c.268C>T (p.Gln90Ter) rs45517099
NM_000548.5(TSC2):c.2713C>G (p.Arg905Gly) rs45517258
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.2743-1G>A rs45517263
NM_000548.5(TSC2):c.2827A>T (p.Arg943Ter)
NM_000548.5(TSC2):c.2838-122G>A rs1567489890
NM_000548.5(TSC2):c.3032del (p.Ala1011fs)
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter) rs45465195
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3099C>A (p.Tyr1033Ter) rs45464800
NM_000548.5(TSC2):c.3106T>C (p.Ser1036Pro) rs45517281
NM_000548.5(TSC2):c.3132-1G>T rs45443096
NM_000548.5(TSC2):c.3145G>T (p.Glu1049Ter)
NM_000548.5(TSC2):c.3180G>A (p.Trp1060Ter) rs796053509
NM_000548.5(TSC2):c.3189del (p.Asn1064fs) rs1567498041
NM_000548.5(TSC2):c.3204_3205TG[1] (p.Val1069fs) rs137854076
NM_000548.5(TSC2):c.3259dup (p.Glu1087fs) rs137854302
NM_000548.5(TSC2):c.3310C>T (p.Gln1104Ter) rs397514978
NM_000548.5(TSC2):c.3310_3311del (p.Gln1104fs) rs137854018
NM_000548.5(TSC2):c.3343C>T (p.Gln1115Ter) rs137854253
NM_000548.5(TSC2):c.336+1G>A rs45517102
NM_000548.5(TSC2):c.336+1G>C rs45517102
NM_000548.5(TSC2):c.337-1G>A rs45517105
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.347del (p.Leu116fs) rs1567398983
NM_000548.5(TSC2):c.34A>T (p.Lys12Ter) rs45512692
NM_000548.5(TSC2):c.3532C>T (p.Gln1178Ter) rs45517297
NM_000548.5(TSC2):c.3558T>G (p.Tyr1186Ter) rs1202939879
NM_000548.5(TSC2):c.3586G>T (p.Glu1196Ter) rs1555511585
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.3610+1G>C rs45517299
NM_000548.5(TSC2):c.3623G>A (p.Trp1208Ter) rs397514979
NM_000548.5(TSC2):c.3641_3814+28del rs1555512330
NM_000548.5(TSC2):c.3662C>A (p.Ser1221Ter) rs45517305
NM_000548.5(TSC2):c.3683del (p.Leu1228fs)
NM_000548.5(TSC2):c.3696dup (p.Asn1233Ter) rs137854210
NM_000548.5(TSC2):c.3750C>A (p.Tyr1250Ter) rs45517308
NM_000548.5(TSC2):c.3759del (p.Ser1254fs) rs1555512497
NM_000548.5(TSC2):c.3791del (p.Pro1264fs) rs137854001
NM_000548.5(TSC2):c.3797dup (p.Pro1267fs) rs796053505
NM_000548.5(TSC2):c.3881dup (p.Asp1295fs) rs1555512887
NM_000548.5(TSC2):c.3999C>A (p.Tyr1333Ter)
NM_000548.5(TSC2):c.4081C>T (p.Arg1361Ter)
NM_000548.5(TSC2):c.4096G>T (p.Glu1366Ter) rs45517327
NM_000548.5(TSC2):c.4106_4110del (p.Arg1369fs) rs1567521369
NM_000548.5(TSC2):c.4113_4114TG[1] (p.Val1372fs) rs137854368
NM_000548.5(TSC2):c.4135_4160dup (p.Ser1388_Pro1389insArgSerProTer) rs1555514034
NM_000548.5(TSC2):c.4147_4163dup (p.Pro1389fs) rs397515009
NM_000548.5(TSC2):c.4174C>T (p.Gln1392Ter) rs45517330
NM_000548.5(TSC2):c.4178_4179CT[1] (p.Leu1394fs) rs137854363
NM_000548.5(TSC2):c.421G>T (p.Glu141Ter) rs1060500924
NM_000548.5(TSC2):c.4318C>T (p.Gln1440Ter) rs45517337
NM_000548.5(TSC2):c.4338_4341dup (p.Ser1448fs)
NM_000548.5(TSC2):c.4344_4346delinsTT (p.Arg1451fs) rs1555514354
NM_000548.5(TSC2):c.4351del (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4351dup (p.Arg1451fs) rs397514939
NM_000548.5(TSC2):c.4371dup (p.Pro1458fs) rs137854046
NM_000548.5(TSC2):c.4375C>T (p.Arg1459Ter) rs45517340
NM_000548.5(TSC2):c.4425_4426AG[2] (p.Arg1477fs) rs1567524949
NM_000548.5(TSC2):c.4437_4440delinsTTT (p.Lys1481fs) rs1555514548
NM_000548.5(TSC2):c.4442dup (p.Ser1482fs) rs137854312
NM_000548.5(TSC2):c.4473del (p.Val1492fs) rs397515023
NM_000548.5(TSC2):c.4473dup (p.Val1492fs) rs397515023
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.4524del (p.Phe1509fs) rs1567526941
NM_000548.5(TSC2):c.4544_4547del (p.Asn1515fs) rs137854175
NM_000548.5(TSC2):c.4571C>G (p.Ser1524Ter) rs1441428144
NM_000548.5(TSC2):c.4594C>T (p.Gln1532Ter) rs886041919
NM_000548.5(TSC2):c.45dup (p.Lys16Ter) rs397515020
NM_000548.5(TSC2):c.4642del (p.Leu1548fs) rs137854083
NM_000548.5(TSC2):c.4655_4657del (p.Glu1552del) rs137854146
NM_000548.5(TSC2):c.4663-1G>T
NM_000548.5(TSC2):c.475G>T (p.Glu159Ter) rs1555497714
NM_000548.5(TSC2):c.4762C>T (p.Gln1588Ter) rs45479192
NM_000548.5(TSC2):c.4796_4797TG[2] (p.Cys1600fs) rs1567533467
NM_000548.5(TSC2):c.4830_4837del (p.Trp1610_Asp1613delinsTer)
NM_000548.5(TSC2):c.4839_4841CAT[1] (p.Ile1614del) rs137854331
NM_000548.5(TSC2):c.4846C>T (p.Gln1616Ter) rs45455296
NM_000548.5(TSC2):c.488_489del (p.Phe163fs) rs137854122
NM_000548.5(TSC2):c.4909_4911AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4934_4935del (p.Phe1645fs) rs137854141
NM_000548.5(TSC2):c.4951_4957del (p.Asn1651fs) rs1060500950
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser) rs45517382
NM_000548.5(TSC2):c.4989+1G>A rs45517386
NM_000548.5(TSC2):c.5018_5042dup (p.Leu1682fs)
NM_000548.5(TSC2):c.5024C>A (p.Pro1675Gln) rs45483392
NM_000548.5(TSC2):c.5024C>T (p.Pro1675Leu) rs45483392
NM_000548.5(TSC2):c.5034C>G (p.Tyr1678Ter) rs45467993
NM_000548.5(TSC2):c.5064_5065delinsTT (p.Arg1688_Lys1689delinsSerTer) rs1555439847
NM_000548.5(TSC2):c.5068+1G>T
NM_000548.5(TSC2):c.5068+2T>C rs397515152
NM_000548.5(TSC2):c.5068G>T (p.Asp1690Tyr) rs137854882
NM_000548.5(TSC2):c.5069-2A>G rs45487291
NM_000548.5(TSC2):c.5126C>T (p.Pro1709Leu) rs45517393
NM_000548.5(TSC2):c.5138G>A (p.Arg1713His) rs45517395
NM_000548.5(TSC2):c.5140C>T (p.Gln1714Ter) rs45517396
NM_000548.5(TSC2):c.5160+1G>A rs45517399
NM_000548.5(TSC2):c.5160+2T>C rs397515170
NM_000548.5(TSC2):c.5161-1G>A rs45517404
NM_000548.5(TSC2):c.5161del (p.Met1721fs) rs137854251
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter) rs1060499676
NM_000548.5(TSC2):c.5170C>T (p.Gln1724Ter) rs45472701
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.5252_5259+19del rs137854397
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.5266del (p.Glu1756fs) rs878854118
NM_000548.5(TSC2):c.5281_5296del (p.Ser1761fs) rs1064792923
NM_000548.5(TSC2):c.5393_*57del (p.Ser1798fs) rs1567135103
NM_000548.5(TSC2):c.569dup (p.Tyr190Ter) rs137854359
NM_000548.5(TSC2):c.600-1G>A rs45517117
NM_000548.5(TSC2):c.645_648del (p.Ile215fs)
NM_000548.5(TSC2):c.646G>T (p.Glu216Ter) rs45517118
NM_000548.5(TSC2):c.648+1G>A rs45488893
NM_000548.5(TSC2):c.658C>T (p.Gln220Ter) rs45517119
NM_000548.5(TSC2):c.683dup (p.Tyr228Ter) rs1567408314
NM_000548.5(TSC2):c.710dup (p.Leu238fs) rs397515166
NM_000548.5(TSC2):c.765_766dup (p.Cys256fs) rs1567409292
NM_000548.5(TSC2):c.826_827del (p.Met276fs) rs137853977
NM_000548.5(TSC2):c.832dup (p.His278fs) rs137854020
NM_000548.5(TSC2):c.848+1G>A rs45466296
NM_000548.5(TSC2):c.848+281C>T rs45517132
NM_000548.5(TSC2):c.972C>A (p.Tyr324Ter) rs45517143
NM_000548.5(TSC2):c.976-15G>A rs45517150
NM_000548.5(TSC2):c.976-1G>A rs45451199
NM_000548.5(TSC2):c.993del (p.Asn331fs)
NP_000539.2(TSC2):p.Gln1579Pro
Single allele

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