ClinVar Miner

List of variants reported as likely pathogenic for Tuberous sclerosis 2

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Total variants: 76
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HGVS dbSNP
NC_000016.10:g.(?_2070436)_(2080397_?)dup
NC_000016.10:g.(?_2076471)_(2085342_?)del
NC_000016.10:g.2055492_2070804dup
NM_000548.5(TSC2):c.1085T>C (p.Leu362Pro) rs137854345
NM_000548.5(TSC2):c.1120-1del
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1257+2T>C rs45509697
NM_000548.5(TSC2):c.1257+2_1257+3del rs1596303814
NM_000548.5(TSC2):c.1283_1285del (p.Ser428del) rs137853983
NM_000548.5(TSC2):c.1397T>C (p.Leu466Pro) rs45481199
NM_000548.5(TSC2):c.1443+5G>C rs1057521562
NM_000548.5(TSC2):c.1559_1560AC[3] (p.His522fs) rs1555502530
NM_000548.5(TSC2):c.1599+5G>A rs397515100
NM_000548.5(TSC2):c.1793A>G (p.Tyr598Cys) rs45509791
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000548.5(TSC2):c.1840G>C (p.Ala614Pro) rs397515199
NM_000548.5(TSC2):c.1855_1863dup (p.Leu619_Leu621dup)
NM_000548.5(TSC2):c.1856_1858TGC[2] (p.Leu621del) rs397515195
NM_000548.5(TSC2):c.1864C>T (p.Arg622Trp) rs397514914
NM_000548.5(TSC2):c.1947-2A>C
NM_000548.5(TSC2):c.2087G>A (p.Cys696Tyr) rs45486196
NM_000548.5(TSC2):c.225+2T>C
NM_000548.5(TSC2):c.2410T>C (p.Cys804Arg) rs137853995
NM_000548.5(TSC2):c.2423T>C (p.Leu808Ser) rs45489791
NM_000548.5(TSC2):c.2453_2455TCA[2] (p.Ile820del) rs137854128
NM_000548.5(TSC2):c.2469_2471del (p.Pro824del)
NM_000548.5(TSC2):c.2477T>C (p.Leu826Pro) rs45517239
NM_000548.5(TSC2):c.2531T>C (p.Leu844Pro) rs397515303
NM_000548.5(TSC2):c.2546-1G>C rs45468292
NM_000548.5(TSC2):c.2608G>C (p.Ala870Pro)
NM_000548.5(TSC2):c.2623T>G (p.Tyr875Asp)
NM_000548.5(TSC2):c.2647C>T (p.Gln883Ter) rs45476100
NM_000548.5(TSC2):c.2743-9C>G rs397515319
NM_000548.5(TSC2):c.2764_2765del (p.Leu922fs) rs1555508929
NM_000548.5(TSC2):c.2772del (p.Phe924fs) rs1555508938
NM_000548.5(TSC2):c.2967-1G>T rs1596382055
NM_000548.5(TSC2):c.3095G>C (p.Arg1032Pro) rs45491698
NM_000548.5(TSC2):c.3284+1G>A rs45517289
NM_000548.5(TSC2):c.335_336+14del rs1596259720
NM_000548.5(TSC2):c.3610G>A (p.Gly1204Arg) rs1555511663
NM_000548.5(TSC2):c.3611-2A>G rs397515169
NM_000548.5(TSC2):c.3611G>A (p.Gly1204Glu) rs45462194
NM_000548.5(TSC2):c.3747_3748del (p.Tyr1250fs) rs1555512486
NM_000548.5(TSC2):c.4005+2T>C rs137854254
NM_000548.5(TSC2):c.4006-15_4048del
NM_000548.5(TSC2):c.4006-2A>G rs397514941
NM_000548.5(TSC2):c.440C>A (p.Thr147Lys) rs1555497690
NM_000548.5(TSC2):c.4494-1G>A rs45517346
NM_000548.5(TSC2):c.4508A>C (p.Gln1503Pro) rs45516293
NM_000548.5(TSC2):c.4569+1G>A rs1060500972
NM_000548.5(TSC2):c.4569+1G>T rs1060500972
NM_000548.5(TSC2):c.4569+2T>A rs1555514984
NM_000548.5(TSC2):c.4569+2T>G rs1555514984
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg)
NM_000548.5(TSC2):c.4662+1G>C
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro) rs45517362
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup) rs1596439426
NM_000548.5(TSC2):c.4823_4825del (p.Tyr1608del) rs137854399
NM_000548.5(TSC2):c.4839_4841CAT[1] (p.Ile1614del) rs137854331
NM_000548.5(TSC2):c.4849+1G>A rs45517375
NM_000548.5(TSC2):c.4909_4911AAG[1] (p.Lys1638del) rs137854261
NM_000548.5(TSC2):c.4919A>G (p.His1640Arg) rs794727602
NM_000548.5(TSC2):c.5067_5068+8del rs1567128655
NM_000548.5(TSC2):c.5069-18A>G rs45484794
NM_000548.5(TSC2):c.5138G>C (p.Arg1713Pro) rs45517395
NM_000548.5(TSC2):c.5140del (p.Gln1714fs) rs878854115
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.5227C>G (p.Arg1743Gly) rs45517412
NM_000548.5(TSC2):c.5238_5255del (p.His1746_Arg1751del) rs137854218
NM_000548.5(TSC2):c.5259+1del rs137854317
NM_000548.5(TSC2):c.599+2T>G rs45484992
NM_000548.5(TSC2):c.649-1G>A rs794727906
NM_000548.5(TSC2):c.775-1G>A rs45454192
NM_000548.5(TSC2):c.849-1G>A rs45506396
NM_000548.5(TSC2):c.849-1G>C rs45506396
NM_000548.5(TSC2):c.976-207_1191del

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