TSC2 — 10567 ClinVar variants

All ClinVar germline TSC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4565 flagged for review →

965 Pathogenic · 105 Pathogenic/Likely pathogenic · 243 Likely pathogenic · 1500 Conflicting · 220 Benign · 999 Benign/Likely benign · 2257 Likely benign · 4278 Uncertain significance

Full TSC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 4565

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 11

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

TSC2 p.Arg454Lys Likely pathogenic Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn1651Ser Pathogenic Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Cys414Gly Pathogenic/Likely pathogenic Multiple submitters
tuberous sclerosis 2
TSC2 p.Ser1095Asn Pathogenic/Likely pathogenic Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp1656Tyr Pathogenic Single submitter
tuberous sclerosis 2
TSC2 p.Gln1686Lys Likely pathogenic Single submitter
TSC2 p.Gln373Arg Likely pathogenic Single submitter
tuberous sclerosis 2
TSC2 p.Gln373His Likely pathogenic Single submitter
TSC2 p.Gly1408Asp Pathogenic Single submitter
tuberous sclerosis 2
TSC2 p.Leu160Val Likely pathogenic Single submitter
tuberous sclerosis
TSC2 p.Ser601Arg Likely pathogenic Single submitter
tuberous sclerosis 2

Predictors agree, ClinVar conflicts 726

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 726

TSC2 p.Ala100Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala100Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1108Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1110Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1116Gly Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1161Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1163Ser Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Ala1164Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1169Thr Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1184Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1185Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala121Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1261Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1273Thr Conflicting Single submitter
tuberous sclerosis
TSC2 p.Ala1273Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1297Thr Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Ala1297Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1322Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1323Pro Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1323Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1332Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1349Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1416Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1428Thr Conflicting Single submitter
tuberous sclerosis
TSC2 p.Ala1429Ser Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Ala1429Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1467Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1479Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1484Thr Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Ala1486Val Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Ala1489Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1546Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1712Val Conflicting Single submitter
tuberous sclerosis
TSC2 p.Ala1719Glu Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala1719Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1759Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1778Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala1778Val Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Ala1782Ser Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Ala210Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala289Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala289Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala295Asp Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala2Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala328Thr Conflicting Single submitter
tuberous sclerosis
TSC2 p.Ala357Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala415Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala42Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala447Glu Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala447Thr Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala447Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala551Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala551Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala552Ser Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala552Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala607Ser Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala675Ser Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Ala675Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala678Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala68Pro Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala753Thr Conflicting Single submitter
TSC2-related disorder
TSC2 p.Ala765Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala772Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala77Ser Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Ala80Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala822Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala837Gly Conflicting Single submitter
TSC2-related disorder
TSC2 p.Ala84Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala86Thr Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala86Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala950Val Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala972Thr Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala972Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala974Thr Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ala974Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala998Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1078Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1078Trp Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1122His Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg1122Pro Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1125Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1127Gln Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg1127Trp Conflicting Single submitter
TSC2-related disorder
TSC2 p.Arg1129Cys Conflicting Single submitter
TSC2-related disorder
TSC2 p.Arg1159Gln Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Arg1159Leu Conflicting Single submitter
tuberous sclerosis
TSC2 p.Arg115Cys Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg115His Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1174Gln Conflicting Single submitter
tuberous sclerosis
TSC2 p.Arg1245Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1289Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1328Gly Conflicting Single submitter
tuberous sclerosis
TSC2 p.Arg1328Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1329Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1355Gly Conflicting Single submitter
tuberous sclerosis
TSC2 p.Arg1361Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1369Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1369Trp Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1409Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1409Gly Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Arg1409Trp Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Arg1417Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1417Gly Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg1417Trp Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg1438Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1438Pro Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1438Trp Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1451Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1451Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1451His Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1451Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1457Trp Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Arg1470His Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1474Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1477Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1483Gly Conflicting Single submitter
tuberous sclerosis
TSC2 p.Arg1483Thr Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg1529Trp Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1580Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1634Cys Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Arg1706His Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg1706Leu Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg1713Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg197Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg25Lys Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg283Lys Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg308Trp Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg313Lys Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg350Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg381Lys Conflicting Single submitter
tuberous sclerosis
TSC2 p.Arg413Ser Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg418Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg451Lys Conflicting Single submitter
tuberous sclerosis
TSC2 p.Arg462Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg462His Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg505Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg505Gly Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg537His Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Arg548Thr Conflicting Single submitter
TSC2-related disorder
TSC2 p.Arg57Cys Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg57His Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg585Gly Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Arg628Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg628Gly Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Arg628His Conflicting Single submitter
tuberous sclerosis
TSC2 p.Arg639Trp Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg680Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg691Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg691His Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Arg691Leu Conflicting Single submitter
tuberous sclerosis

Predicted LoF vs a conflicting call 26

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

TSC2 c.226-1G>A Conflicting Single submitter
TSC2-related disorder
TSC2 c.2967-1G>A Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 c.2967-1G>T Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 c.3398-2A>G Conflicting Single submitter
tuberous sclerosis 2
TSC2 c.3815-1G>A Conflicting Single submitter
tuberous sclerosis
TSC2 c.4570-1G>A Conflicting Single submitter
tuberous sclerosis
TSC2 c.4990-1G>A Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 c.5068+2_5068+6dup Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 c.5160+2dup Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 c.5259+2_5259+28dup Conflicting Single submitter
tuberous sclerosis
TSC2 c.5259+2T>A Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 c.5260-1G>C Conflicting Single submitter
tuberous sclerosis
TSC2 c.5260-2A>C Conflicting Single submitter
tuberous sclerosis 2
TSC2 c.641_648+1del Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Ala972fs Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Gln1280Ter Conflicting Single submitter
TSC2 p.Gln1286Ter Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Gln1752Ter Conflicting Single submitter
lymphangioleiomyomatosis
TSC2 p.Glu965Ter Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Gly956_Leu957insTer Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Leu773fs Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Lys954fs Conflicting Single submitter
hereditary neoplastic syndrome
TSC2 p.Phe1275fs Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC2 p.Phe1806fs Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Ser1282fs Conflicting Single submitter
tuberous sclerosis 2
TSC2 p.Val987fs Conflicting Single submitter
tuberous sclerosis 2

Predictors lean, ClinVar uncertain 2053

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 2053

TSC2 p.Ala1003Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1003Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1009Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1053Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala107Thr Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Ala1110Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1116Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1146Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1153Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1153Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1161Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1163Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1163Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1163Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1163Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1169Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1169Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1171Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala121Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1234Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1238Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1238Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1238Val Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Ala1248Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1258Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1258Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1258Val Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Ala1261Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1322Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1323Glu Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala1332Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1349Glu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1349Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1405Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1428Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1429Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1432Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala145Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1467Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1479Asp Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1484Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1546Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1617Val Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Ala1758Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1758Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1776Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1782Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1782Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala196Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala196Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala210Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala210Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala224Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala233Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala233Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala272Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala284Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala289Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala306Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala31Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala328Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala42Gly Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala460Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala536Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala536Val Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Ala551Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala552Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala614Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala673Pro Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Ala675Val Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Ala678Asp Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala678Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala736Thr Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Ala753Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala772Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala80Thr Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala837Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala840Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala84Glu Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Ala84Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala851Val Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala862Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala862Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala866Ser Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Ala889Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala935Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala950Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala971Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala998Pro Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala998Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala998Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1122Leu Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Arg115Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg115Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg120Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1245Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1268Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1268Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1268Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1335Lys Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1335Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1361Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1409Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1451Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1457Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1459Gln Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1471Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1474Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1477Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1477Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1477Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1639Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1639His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1706Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1713Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1749Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1753Pro Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg245Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg283Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg29Lys Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg29Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg367Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg406Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg413Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg430Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg458Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg462Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg477Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg548Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg548Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg59Gln Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg628Leu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg653Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg653Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg653Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg691Gly Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Arg712Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg751Leu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg917Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg936Gln Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg936Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg943Lys Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg951Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg951Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg978Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg978His Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg98Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg98Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asn1017Asp Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn1037Ser Uncertain significance Multiple submitters
tuberous sclerosis 2

Predictors split 1749

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 1749

TSC2 p.Ala1031Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1040Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1040Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala107Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1195Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1546Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1560Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1617Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala1617Thr Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala1712Thr Uncertain significance Multiple submitters
astroblastoma, MN1-altered
TSC2 p.Ala1716Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1722Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1742Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala1742Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala295Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala357Glu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala516Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala563Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala580Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala580Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala583Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala583Thr Benign/Likely benign Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala607Thr Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala623Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala623Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Ala772Glu Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala870Thr Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Ala894Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala935Asp Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Ala97Asp Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1032Gln Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Arg1032Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1032Pro Pathogenic/Likely pathogenic Multiple submitters
TSC2-related disorder
TSC2 p.Arg1056Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg1138Leu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1200Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1200Trp Pathogenic Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Arg1201Lys Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg120Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1240His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1289Ser Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Arg1335Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1335Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1471Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1529Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1570Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1634Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1688Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1706Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1743Gln Pathogenic/Likely pathogenic Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Arg1745Leu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg1793Gln Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg1795Cys Benign/Likely benign Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Arg1795Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg261Trp Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg367Trp Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg406Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg430Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg430Thr Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC2 p.Arg477Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg537Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg585Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg622Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg622Trp Pathogenic/Likely pathogenic Multiple submitters
TSC2-related disorder
TSC2 p.Arg680Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg680Pro Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg718Leu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg759Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg786Leu Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg786Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg799His Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg852Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg858Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Arg899Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Arg901His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg943Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg988Pro Benign/Likely benign Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Arg990Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Arg990Trp Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn1037Thr Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Asn1233Ile Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn1496Ile Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Asn1515Lys Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn1522Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asn1720Asp Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn1731Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asn1731His Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn248Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asn262Lys Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn314Lys Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn331Lys Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Asn476Thr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn859Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asn877Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asn919Asp Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asn919Ile Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Asn941Lys Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp129Val Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp1478Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1535Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1590Glu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp1590Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1598Glu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp1636Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1644Asn Likely benign Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1656Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1677Glu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp1677Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1705Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1734Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1734Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp1734Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp223Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp223His Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Asp359Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp396His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp467Glu Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp467Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp499Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp499His Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp514Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp514Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp529Tyr Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp549Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp635Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp647Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp647His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp702Asn Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Asp702Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp731Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp781Gly Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Asp87Glu Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Asp907Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Asp907Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp925Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Asp926Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Cys1609Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Cys1680Gly Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC2 p.Cys1680Ser Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Cys206Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Cys230Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Cys519Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Cys519Ser Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Cys644Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Cys646Tyr Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Cys728Phe Uncertain significance Multiple submitters
tuberous sclerosis
TSC2 p.Cys738Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Cys791Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC2 p.Cys811Gly Uncertain significance Multiple submitters
tuberous sclerosis 2
TSC2 p.Gln112Glu Uncertain significance Multiple submitters
tuberous sclerosis 2

All TSC2 variants

Pathogenic 965

Showing the top 300 by review status; the full set is in the sitemap.

c.1257+1G>A Multiple submitters tuberous sclerosis 2
c.1258-2A>G Multiple submitters tuberous sclerosis 2
c.1362-1G>A Multiple submitters tuberous sclerosis
c.138_138+1del Multiple submitters hereditary neoplastic syndrome
c.138+2T>C Multiple submitters tuberous sclerosis 2
c.139-1G>A Multiple submitters tuberous sclerosis 2
c.139-2A>G Multiple submitters tuberous sclerosis 2
c.1443+2T>A Multiple submitters tuberous sclerosis 2
c.1444-1G>A Multiple submitters tuberous sclerosis 2
c.1599+1G>A Multiple submitters hereditary neoplastic syndrome
c.1717-12CT[2] Multiple submitters hereditary neoplastic syndrome
c.1839+1G>T Multiple submitters tuberous sclerosis 2
c.1946+1G>A Multiple submitters TSC2-related disorder
c.2098-1G>A Multiple submitters tuberous sclerosis 2
c.2098-2A>G Multiple submitters tuberous sclerosis 2
c.2220+1G>A Multiple submitters tuberous sclerosis 2
c.2221-1G>A Multiple submitters tuberous sclerosis 2
c.2221-1G>C Multiple submitters tuberous sclerosis 1
c.2221-2A>G Multiple submitters hereditary neoplastic syndrome
c.2355+2_2355+5del Multiple submitters tuberous sclerosis
c.2356-1G>A Multiple submitters tuberous sclerosis 2
c.2545+1G>A Multiple submitters tuberous sclerosis 2
c.2546-2A>G Multiple submitters tuberous sclerosis 2
c.2639+1G>A Multiple submitters tuberous sclerosis 2
c.2640-1G>A Multiple submitters tuberous sclerosis 2
c.2743-1G>A Multiple submitters hereditary neoplastic syndrome
c.2743-1G>C Multiple submitters tuberous sclerosis 2
c.2743-9C>G Multiple submitters hereditary neoplastic syndrome
c.2838-122G>A Multiple submitters TSC2-related disorder
c.3131+1G>A Multiple submitters lymphangioleiomyomatosis
c.3132-2A>G Multiple submitters hereditary neoplastic syndrome
c.3284+1G>C Multiple submitters isolated focal cortical dysplasia type II
c.336+1G>A Multiple submitters tuberous sclerosis 2
c.337-1G>A Multiple submitters tuberous sclerosis 2
c.337-1G>T Multiple submitters hereditary neoplastic syndrome
c.3397+1G>A Multiple submitters tuberous sclerosis 2
c.3401dup Multiple submitters tuberous sclerosis 2
c.3610+1G>A Multiple submitters tuberous sclerosis 2
c.3884-1G>C Multiple submitters tuberous sclerosis 2
c.4005+1G>A Multiple submitters tuberous sclerosis 2
c.4006-1G>A Multiple submitters tuberous sclerosis 2
c.4493+1G>A Multiple submitters tuberous sclerosis 2
c.4493+2T>C Multiple submitters tuberous sclerosis 2
c.4494-2A>G Multiple submitters tuberous sclerosis 2
c.4569+1G>T Multiple submitters tuberous sclerosis 2
c.4662+1G>A Multiple submitters tuberous sclerosis 2
c.4663-2A>G Multiple submitters tuberous sclerosis 2
c.4849+1G>A Multiple submitters hereditary neoplastic syndrome
c.4850-2A>G Multiple submitters tuberous sclerosis 2
c.4989+1G>A Multiple submitters tuberous sclerosis 2
c.5069-2A>G Multiple submitters tuberous sclerosis 2
c.5160+1G>A Multiple submitters tuberous sclerosis
c.5160+2T>C Multiple submitters tuberous sclerosis 2
c.5161-1G>A Multiple submitters lymphangioleiomyomatosis
c.5161-1G>C Multiple submitters tuberous sclerosis 2
c.5161-2A>G Multiple submitters hereditary neoplastic syndrome
c.648+1G>A Multiple submitters tuberous sclerosis 2
c.648+1G>C Multiple submitters tuberous sclerosis 2
c.774+1G>A Multiple submitters tuberous sclerosis 2
c.848+1G>A Multiple submitters tuberous sclerosis 2
c.975+2T>C Multiple submitters hereditary neoplastic syndrome
p.Ala1169fs Multiple submitters tuberous sclerosis 2
p.Ala614Asp Multiple submitters tuberous sclerosis 2
p.Arg1032_Tyr1033insTer Multiple submitters lymphangioleiomyomatosis
p.Arg1032Ter Multiple submitters lymphangioleiomyomatosis
p.Arg1138Ter Multiple submitters lymphangioleiomyomatosis
p.Arg1200Trp Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Arg120Ter Multiple submitters tuberous sclerosis 2
p.Arg1459fs Multiple submitters hereditary neoplastic syndrome
p.Arg1459Ter Multiple submitters TSC2-related disorder
p.Arg1474fs Multiple submitters tuberous sclerosis 2
p.Arg1743Trp Multiple submitters lymphangioleiomyomatosis
p.Arg406fs Multiple submitters tuberous sclerosis 2
p.Arg451fs Multiple submitters tuberous sclerosis 2
p.Arg505Ter Multiple submitters hereditary neoplastic syndrome
p.Arg585fs Multiple submitters hereditary neoplastic syndrome
p.Arg611Gly Multiple submitters tuberous sclerosis
p.Arg611Trp Multiple submitters lymphangioleiomyomatosis
p.Arg691fs Multiple submitters tuberous sclerosis 2
p.Arg751Ter Multiple submitters isolated focal cortical dysplasia type II
p.Arg905Gly Multiple submitters tuberous sclerosis 2
p.Arg905Trp Multiple submitters tuberous sclerosis 2
p.Asn1233Ter Multiple submitters lymphangioleiomyomatosis
p.Asn1651Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1126fs Multiple submitters lymphangioleiomyomatosis
p.Asp1246fs Multiple submitters tuberous sclerosis 2
p.Asp702fs Multiple submitters lymphangioleiomyomatosis
p.Cys206fs Multiple submitters tuberous sclerosis 2
p.Cys230Ter Multiple submitters hereditary neoplastic syndrome
p.Cys253Ter Multiple submitters tuberous sclerosis 2
p.Cys887Ter Multiple submitters tuberous sclerosis 2
p.Gln1089Ter Multiple submitters tuberous sclerosis 2
p.Gln1104Ter Multiple submitters tuberous sclerosis 2
p.Gln110Ter Multiple submitters hereditary neoplastic syndrome
p.Gln1115Ter Multiple submitters tuberous sclerosis 2
p.Gln1118Ter Multiple submitters tuberous sclerosis 2
p.Gln1148Ter Multiple submitters lymphangioleiomyomatosis
p.Gln1178Ter Multiple submitters tuberous sclerosis 2
p.Gln1229fs Multiple submitters tuberous sclerosis 2
p.Gln1229Ter Multiple submitters tuberous sclerosis 2
p.Gln1342Ter Multiple submitters tuberous sclerosis 2
p.Gln1377Ter Multiple submitters isolated focal cortical dysplasia type II
p.Gln1380Ter Multiple submitters tuberous sclerosis 1
p.Gln1392Ter Multiple submitters tuberous sclerosis
p.Gln1395Ter Multiple submitters tuberous sclerosis 1
p.Gln1419Ter Multiple submitters tuberous sclerosis
p.Gln1440Ter Multiple submitters tuberous sclerosis 2
p.Gln1503Ter Multiple submitters lymphangioleiomyomatosis
p.Gln1525Ter Multiple submitters tuberous sclerosis 2
p.Gln1554= Multiple submitters tuberous sclerosis 2
p.Gln1554Ter Multiple submitters tuberous sclerosis
p.Gln1588Ter Multiple submitters tuberous sclerosis 2
p.Gln1605Ter Multiple submitters tuberous sclerosis 2
p.Gln1616Ter Multiple submitters tuberous sclerosis 2
p.Gln1665Ter Multiple submitters tuberous sclerosis 2
p.Gln166Ter Multiple submitters tuberous sclerosis 2
p.Gln1686Ter Multiple submitters TSC2-related disorder
p.Gln1714Ter Multiple submitters tuberous sclerosis 2
p.Gln1724Ter Multiple submitters hereditary neoplastic syndrome
p.Gln220Ter Multiple submitters hereditary neoplastic syndrome
p.Gln354Ter Multiple submitters tuberous sclerosis 2
p.Gln370Ter Multiple submitters hereditary neoplastic syndrome
p.Gln371Ter Multiple submitters tuberous sclerosis 2
p.Gln404Ter Multiple submitters TSC2-related disorder
p.Gln417Ter Multiple submitters tuberous sclerosis 2
p.Gln432Ter Multiple submitters lymphangioleiomyomatosis
p.Gln443Ter Multiple submitters tuberous sclerosis
p.Gln478Ter Multiple submitters tuberous sclerosis 2
p.Gln492Ter Multiple submitters tuberous sclerosis 2
p.Gln595Ter Multiple submitters tuberous sclerosis 2
p.Gln695Ter Multiple submitters tuberous sclerosis 2
p.Gln699Ter Multiple submitters tuberous sclerosis 2
p.Gln732Ter Multiple submitters hereditary neoplastic syndrome
p.Gln785Ter Multiple submitters TSC2-related disorder
p.Gln864Ter Multiple submitters tuberous sclerosis 2
p.Gln90Ter Multiple submitters hereditary neoplastic syndrome
p.Gln992Ter Multiple submitters hereditary neoplastic syndrome
p.Glu1087fs Multiple submitters TSC2-related disorder
p.Glu1087Ter Multiple submitters TSC2-related disorder
p.Glu1366Ter Multiple submitters tuberous sclerosis 2
p.Glu138Ter Multiple submitters TSC2-related disorder
p.Glu1442Ter Multiple submitters hereditary neoplastic syndrome
p.Glu1513fs Multiple submitters hereditary neoplastic syndrome
p.Glu1552del Multiple submitters tuberous sclerosis 2
p.Glu193Ter Multiple submitters tuberous sclerosis 2
p.Glu234Ter Multiple submitters hereditary neoplastic syndrome
p.Glu366Ter Multiple submitters tuberous sclerosis 2
p.Glu393Ter Multiple submitters tuberous sclerosis 2
p.Glu399Ter Multiple submitters tuberous sclerosis 2
p.Glu405Ter Multiple submitters tuberous sclerosis 2
p.Glu420Ter Multiple submitters tuberous sclerosis
p.Glu483Ter Multiple submitters hereditary neoplastic syndrome
p.Glu588fs Multiple submitters tuberous sclerosis 2
p.Glu588Ter Multiple submitters hereditary neoplastic syndrome
p.Glu74Ter Multiple submitters hereditary neoplastic syndrome
p.Glu793Ter Multiple submitters tuberous sclerosis 2
p.Glu929fs Multiple submitters tuberous sclerosis 2
p.Glu92Ter Multiple submitters hereditary neoplastic syndrome
p.Glu942Ter Multiple submitters tuberous sclerosis 2
p.Gly1134Alafs Multiple submitters tuberous sclerosis 2
p.Gly1439fs Multiple submitters tuberous sclerosis 2
p.Gly1472fs Multiple submitters TSC2-related disorder
p.Gly1642Asp Multiple submitters hereditary neoplastic syndrome
p.Gly294Arg Multiple submitters tuberous sclerosis
p.His1620Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His597Arg Multiple submitters tuberous sclerosis 2
p.Ile1747_Gln1752del Multiple submitters tuberous sclerosis 2
p.Ile606fs Multiple submitters tuberous sclerosis 2
p.Leu1198fs Multiple submitters tuberous sclerosis 2
p.Leu1228fs Multiple submitters tuberous sclerosis 2
p.Leu1394fs Multiple submitters tuberous sclerosis 2
p.Leu1624fs Multiple submitters tuberous sclerosis
p.Leu697fs Multiple submitters tuberous sclerosis 2
p.Lys16Ter Multiple submitters tuberous sclerosis 2
p.Lys1739fs Multiple submitters tuberous sclerosis 2
p.Lys880fs Multiple submitters tuberous sclerosis 2
p.Met276fs Multiple submitters TSC2-related disorder
p.Phe163fs Multiple submitters tuberous sclerosis 2
p.Phe1645fs Multiple submitters tuberous sclerosis 2
p.Phe408fs Multiple submitters tuberous sclerosis
p.Phe453Ter Multiple submitters hereditary neoplastic syndrome
p.Pro1264fs Multiple submitters hereditary neoplastic syndrome
p.Pro1497Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro1675Leu Multiple submitters tuberous sclerosis
p.Pro1709Leu Multiple submitters tuberous sclerosis 2
p.Pro727fs Multiple submitters tuberous sclerosis 2
p.Ser1254fs Multiple submitters tuberous sclerosis 2
p.Ser1254Ter Multiple submitters tuberous sclerosis 2
p.Ser1388Ter Multiple submitters tuberous sclerosis 2
p.Ser1420fs Multiple submitters tuberous sclerosis 2
p.Ser1482fs Multiple submitters tuberous sclerosis 2
p.Ser1530Ter Multiple submitters hereditary neoplastic syndrome
p.Ser1764fs Multiple submitters tuberous sclerosis 2
p.Ser554Ter Multiple submitters tuberous sclerosis 2
p.Thr1068Ile Multiple submitters tuberous sclerosis 2
p.Thr1077fs Multiple submitters tuberous sclerosis 2
p.Thr147fs Multiple submitters tuberous sclerosis 2
p.Thr242fs Multiple submitters TSC2-related disorder
p.Trp1060Ter Multiple submitters tuberous sclerosis 2
p.Trp1194Ter Multiple submitters TSC2-related disorder
p.Trp1208Ter Multiple submitters isolated focal cortical dysplasia type II
p.Trp1610Ter Multiple submitters tuberous sclerosis 2
p.Trp167Ter Multiple submitters tuberous sclerosis 2
p.Trp1740Ter Multiple submitters tuberous sclerosis 2
p.Trp257Ter Multiple submitters tuberous sclerosis 2
p.Trp304Ter Multiple submitters TSC2-related disorder
p.Trp358Ter Multiple submitters hereditary neoplastic syndrome
p.Trp703Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr1033Ter Multiple submitters tuberous sclerosis 2
p.Tyr1505Ter Multiple submitters tuberous sclerosis 2
p.Tyr1540Ter Multiple submitters tuberous sclerosis 2
p.Tyr1569Ter Multiple submitters tuberous sclerosis 2
p.Tyr1608del Multiple submitters tuberous sclerosis 2
p.Tyr190Ter Multiple submitters tuberous sclerosis 2
p.Tyr776Ter Multiple submitters tuberous sclerosis 2
p.Tyr790Ter Multiple submitters hereditary neoplastic syndrome
p.Val1069fs Multiple submitters hereditary neoplastic syndrome
p.Val1100fs Multiple submitters hereditary neoplastic syndrome
p.Val1372fs Multiple submitters tuberous sclerosis 2
p.Val1492fs Multiple submitters tuberous sclerosis 2
p.Val299fs Multiple submitters tuberous sclerosis 2
p.Val586_Tyr587insTer Multiple submitters hereditary neoplastic syndrome
p.Val827fs Multiple submitters hereditary neoplastic syndrome
c.1_1230del Single submitter tuberous sclerosis 2
c.1119+129G>T Single submitter tuberous sclerosis 2
c.1257+1G>C Single submitter tuberous sclerosis 2
c.1257+1G>T Single submitter tuberous sclerosis
c.1257+2T>C Single submitter tuberous sclerosis 2
c.1257+2T>G Single submitter tuberous sclerosis
c.1258-96_1362del Single submitter tuberous sclerosis 2
c.134_138+1delinsC Single submitter
c.1358_1361+14del Single submitter tuberous sclerosis 2
c.136_138+1del Single submitter tuberous sclerosis 2
c.1362-1G>C Single submitter
c.1362-2A>G Single submitter tuberous sclerosis 2
c.138+5G>C Single submitter tuberous sclerosis 2
c.1443+1G>T Single submitter tuberous sclerosis 2
c.156_848del Single submitter tuberous sclerosis 2
c.1563_1599+94del Single submitter tuberous sclerosis 2
c.1599+2T>C Single submitter hereditary neoplastic syndrome
c.1599+2T>G Single submitter tuberous sclerosis 2
c.1599+4A>C Single submitter tuberous sclerosis 2
c.1600_2545dup Single submitter tuberous sclerosis 2
c.1600-?_1716+?del Single submitter tuberous sclerosis 2
c.1600-1G>C Single submitter tuberous sclerosis 2
c.1600-2A>G Single submitter hereditary neoplastic syndrome
c.1608_5189del Single submitter tuberous sclerosis 2
c.(1716+1_1717-1 Single submitter tuberous sclerosis 2
c.1716+5G>C Single submitter tuberous sclerosis 2
c.1717-2A>C Single submitter tuberous sclerosis 2
c.1717-2A>T Single submitter
c.1741_1839+182del Single submitter hereditary neoplastic syndrome
c.1745_3254del Single submitter tuberous sclerosis 2
c.1839+2T>C Single submitter tuberous sclerosis 2
c.1840-1G>A Single submitter tuberous sclerosis 2
c.1840-2_1841delinsTTTTGA Single submitter
c.1946+1G>C Single submitter tuberous sclerosis 2
c.1946+1G>T Single submitter
c.1946+2T>A Single submitter
c.1946+2T>C Single submitter tuberous sclerosis
c.1947-1_1947delinsAA Single submitter tuberous sclerosis 2
c.1947-2A>G Single submitter hereditary neoplastic syndrome
c.1948delG Single submitter tuberous sclerosis 2
c.2021_2356-115delinsTAAGCACTTAGTCTCCT Single submitter tuberous sclerosis 2
c.2098-2A>T Single submitter tuberous sclerosis 2
c.2220+1G>T Single submitter tuberous sclerosis 2
c.2220+2T>C Single submitter tuberous sclerosis 2
c.225+2T>A Single submitter tuberous sclerosis 2
c.225+2T>G Single submitter tuberous sclerosis
c.226-2A>G Single submitter tuberous sclerosis 2
c.2355+1G>A Single submitter tuberous sclerosis 2
c.2355+1G>C Single submitter
c.2355+1G>T Single submitter tuberous sclerosis 2
c.2356-1G>C Single submitter tuberous sclerosis 2
c.2356-2A>C Single submitter tuberous sclerosis 2
c.2435_2545+153delinsTC Single submitter tuberous sclerosis 2
c.2545+2T>C Single submitter tuberous sclerosis 2
c.2546-1G>A Single submitter tuberous sclerosis
c.2546-1G>C Single submitter tuberous sclerosis 2
c.2546-313_2967-376del Single submitter tuberous sclerosis 2
c.2633_2639+1del Single submitter hereditary neoplastic syndrome
c.2639+1G>C Single submitter tuberous sclerosis 2
c.2639+4_2639+13delinsTACGGCAGGGGTTGCCGTACACCAACCCCT Single submitter tuberous sclerosis 2
c.2742+1G>A Single submitter tuberous sclerosis 2
c.2742+1G>T Single submitter tuberous sclerosis 2
c.2742+5G>A Single submitter tuberous sclerosis 2
c.2742+5G>C Single submitter tuberous sclerosis 2
c.2743-1_2755dup Single submitter tuberous sclerosis 2
c.2743-1G>T Single submitter tuberous sclerosis 2
c.2967-32_3105del Single submitter tuberous sclerosis 2
c.3131+2T>A Single submitter
c.3132-1G>A Single submitter tuberous sclerosis 2
c.3132-1G>T Single submitter tuberous sclerosis 2
c.3132-2A>C Single submitter tuberous sclerosis 2
c.3190_3285-15del Single submitter
c.336+1G>C Single submitter tuberous sclerosis 2
c.336+2T>G Single submitter tuberous sclerosis
c.337-2A>C Single submitter tuberous sclerosis 2
c.3397+1G>T Single submitter tuberous sclerosis 2
c.3397+4A>G Single submitter tuberous sclerosis 2

Pathogenic/Likely pathogenic 105

c.1361+1G>A Multiple submitters tuberous sclerosis 2
c.1361+1G>T Multiple submitters tuberous sclerosis 2
c.138+5G>A Multiple submitters tuberous sclerosis 2
c.1443+1G>A Multiple submitters tuberous sclerosis 2
c.1443+2T>C Multiple submitters hereditary neoplastic syndrome
c.1443+5G>C Multiple submitters hereditary neoplastic syndrome
c.1444-2A>G Multiple submitters TSC2-related disorder
c.1716+1G>A Multiple submitters hereditary neoplastic syndrome
c.1717-1G>A Multiple submitters tuberous sclerosis 2
c.1840-2A>G Multiple submitters tuberous sclerosis 2
c.1945_1946+4del Multiple submitters hereditary neoplastic syndrome
c.1947-2A>C Multiple submitters hereditary neoplastic syndrome
c.225+1G>A Multiple submitters tuberous sclerosis
c.2355+2T>C Multiple submitters hereditary neoplastic syndrome
c.2356-1G>T Multiple submitters TSC2-related disorder
c.2640-2A>G Multiple submitters lymphangioleiomyomatosis
c.2837+1G>A Multiple submitters tuberous sclerosis 2
c.3284+1G>A Multiple submitters tuberous sclerosis 2
c.336+1G>T Multiple submitters tuberous sclerosis 2
c.336+5G>C Multiple submitters tuberous sclerosis 2
c.3610+1G>T Multiple submitters tuberous sclerosis 2
c.3610+2T>C Multiple submitters TSC2-related disorder
c.4005+1G>T Multiple submitters tuberous sclerosis 2
c.4006-1G>C Multiple submitters tuberous sclerosis 2
c.4006-2A>G Multiple submitters tuberous sclerosis 2
c.4569+1G>A Multiple submitters isolated focal cortical dysplasia type II
c.4569+2T>C Multiple submitters tuberous sclerosis 2
c.481+1G>A Multiple submitters Focal cortical dysplasia
c.5068+1G>A Multiple submitters hereditary neoplastic syndrome
c.5068+2T>C Multiple submitters hereditary neoplastic syndrome
c.5069-18A>G Multiple submitters tuberous sclerosis
c.5160+1G>T Multiple submitters hereditary neoplastic syndrome
c.5160+2_5160+3del Multiple submitters tuberous sclerosis 2
c.5160+5G>A Multiple submitters TSC2-related disorder
c.5161-1G>T Multiple submitters TSC2-related disorder
c.5252_5259+19del Multiple submitters lymphangioleiomyomatosis
c.5259+1del Multiple submitters tuberous sclerosis 2
c.599+1G>A Multiple submitters hereditary neoplastic syndrome
c.599+1G>C Multiple submitters tuberous sclerosis 2
c.599+5G>A Multiple submitters tuberous sclerosis 2
c.649-1G>A Multiple submitters tuberous sclerosis
c.848+281C>T Multiple submitters TSC2-related disorder
c.849-1G>A Multiple submitters tuberous sclerosis 2
c.849-1G>C Multiple submitters tuberous sclerosis 2
c.849-2A>C Multiple submitters TSC2-related disorder
c.975+1G>A Multiple submitters tuberous sclerosis 2
c.976-15G>A Multiple submitters lymphangioleiomyomatosis
p.Ala889Val Multiple submitters TSC2-related disorder
p.Arg1032Pro Multiple submitters TSC2-related disorder ⚠
p.Arg1713His Multiple submitters isolated focal cortical dysplasia type II
p.Arg1743Gln Multiple submitters lymphangioleiomyomatosis ⚠
p.Arg611Gln Multiple submitters tuberous sclerosis
p.Arg622Trp Multiple submitters TSC2-related disorder ⚠
p.Arg905Gln Multiple submitters lymphangioleiomyomatosis
p.Asp1535fs Multiple submitters tuberous sclerosis 2
p.Cys414Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Cys696Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys804Arg Multiple submitters tuberous sclerosis 2
p.Gln1419fs Multiple submitters tuberous sclerosis 2
p.Gln1503Pro Multiple submitters hereditary neoplastic syndrome
p.Gln1554His Multiple submitters tuberous sclerosis 2
p.Gln325Ter Multiple submitters hereditary neoplastic syndrome
p.Gln883Ter Multiple submitters TSC2-related disorder
p.Glu1558Lys Multiple submitters hereditary neoplastic syndrome
p.Glu1756fs Multiple submitters tuberous sclerosis 2
p.Glu498fs Multiple submitters tuberous sclerosis
p.Gly1204Glu Multiple submitters tuberous sclerosis 2 ⚠
p.His1640Tyr Multiple submitters tuberous sclerosis ⚠
p.His1746_Arg1751del Multiple submitters tuberous sclerosis
p.Ile1614del Multiple submitters TSC2-related disorder
p.Ile1648Thr Multiple submitters lymphangioleiomyomatosis
p.Ile1747Asn Multiple submitters tuberous sclerosis 2
p.Ile820del Multiple submitters TSC2-related disorder
p.Leu1578Pro Multiple submitters tuberous sclerosis 2
p.Leu362Pro Multiple submitters tuberous sclerosis 2
p.Leu733Val Multiple submitters tuberous sclerosis 2 ⚠
p.Leu826Pro Multiple submitters tuberous sclerosis 2
p.Leu844Pro Multiple submitters tuberous sclerosis 2
p.Leu850Pro Multiple submitters hereditary neoplastic syndrome
p.Lys1638del Multiple submitters hereditary neoplastic syndrome
p.Lys914= Multiple submitters tuberous sclerosis 2
p.Phe924fs Multiple submitters tuberous sclerosis 2
p.Pro1263fs Multiple submitters tuberous sclerosis 2
p.Pro1267fs Multiple submitters hereditary neoplastic syndrome
p.Pro1497Leu Multiple submitters tuberous sclerosis 2 ⚠
p.Pro1497Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Pro1675Arg Multiple submitters tuberous sclerosis 2
p.Pro1675Gln Multiple submitters tuberous sclerosis
p.Ser1079Ter Multiple submitters tuberous sclerosis 2
p.Ser1095Asn Multiple submitters tuberous sclerosis 2 ⚠
p.Ser1217fs Multiple submitters tuberous sclerosis 2
p.Ser1338fs Multiple submitters tuberous sclerosis 2
p.Ser1383= Multiple submitters tuberous sclerosis 2
p.Ser1723Ter Multiple submitters isolated focal cortical dysplasia type II
p.Ser428del Multiple submitters TSC2-related disorder
p.Ter1808ArgextTer? Multiple submitters tuberous sclerosis 2
p.Thr1623Ile Multiple submitters tuberous sclerosis
p.Thr913Pro Multiple submitters hereditary neoplastic syndrome
p.Tyr1250fs Multiple submitters TSC2-related disorder
p.Tyr1549Cys Multiple submitters TSC2-related disorder
p.Tyr1650Cys Multiple submitters hereditary neoplastic syndrome
p.Tyr576Ter Multiple submitters tuberous sclerosis 2
p.Tyr598Cys Multiple submitters tuberous sclerosis ⚠
p.Tyr598His Multiple submitters hereditary neoplastic syndrome ⚠
p.Val1646Met Multiple submitters tuberous sclerosis 2

Likely pathogenic 243

c.1840-3C>G Multiple submitters tuberous sclerosis 2
c.2545+5G>C Multiple submitters lymphangioleiomyomatosis
c.3132-1G>C Multiple submitters tuberous sclerosis
c.3611-1G>A Multiple submitters tuberous sclerosis
c.600-2A>G Multiple submitters hereditary neoplastic syndrome
c.775-2A>G Multiple submitters hereditary neoplastic syndrome
c.976-10C>A Multiple submitters
c.976-14G>A Multiple submitters tuberous sclerosis 2
p.Arg454Lys Multiple submitters tuberous sclerosis 2 ⚠
p.Glu814Lys Multiple submitters TSC2-related disorder ⚠
p.Gly1567Asp Multiple submitters hereditary neoplastic syndrome
p.Gly1595Glu Multiple submitters tuberous sclerosis 2
p.His1640Arg Multiple submitters tuberous sclerosis 2 ⚠
p.His1640Pro Multiple submitters tuberous sclerosis 2
p.His1746Pro Multiple submitters isolated focal cortical dysplasia type II
p.Leu1080Ter Multiple submitters tuberous sclerosis 2
p.Leu1562Pro Multiple submitters tuberous sclerosis 2
p.Leu1584Arg Multiple submitters hereditary neoplastic syndrome
p.Leu1717Pro Multiple submitters tuberous sclerosis 2
p.Leu493Val Multiple submitters tuberous sclerosis 2 ⚠
p.Leu528Pro Multiple submitters tuberous sclerosis 2
p.Leu621del Multiple submitters hereditary neoplastic syndrome
p.Leu733Pro Multiple submitters tuberous sclerosis 2
p.Met1029Arg Multiple submitters TSC2-related disorder ⚠
p.Met1030Arg Multiple submitters tuberous sclerosis 2
p.Met280Thr Multiple submitters hereditary neoplastic syndrome
p.Ser1498Thr Multiple submitters TSC2-related disorder ⚠
p.Tyr1571Cys Multiple submitters tuberous sclerosis
p.Val909Asp Multiple submitters tuberous sclerosis 2
c.1120-1del Single submitter tuberous sclerosis 2
c.1257+2_1257+3del Single submitter tuberous sclerosis 2
c.1361+2T>C Single submitter tuberous sclerosis 2
c.138+1G>A Single submitter tuberous sclerosis
c.138+1G>T Single submitter tuberous sclerosis 2
c.1600-1G>A Single submitter TSC2-related disorder
c.1716+2T>G Single submitter tuberous sclerosis 2
c.1717-115_1759del Single submitter tuberous sclerosis 2
c.1717-1G>C Single submitter hereditary neoplastic syndrome
c.1840-2A>C Single submitter
c.1939_1946+10delinsCCATGGG Single submitter hereditary neoplastic syndrome
c.1947-1G>T Single submitter tuberous sclerosis 2
c.2097+1G>T Single submitter hereditary neoplastic syndrome
c.226-3C>G Single submitter tuberous sclerosis 2
c.2356-1_2356delinsTT Single submitter tuberous sclerosis 2
c.2639+5G>C Single submitter TSC2-related disorder
c.2640-1G>C Single submitter TSC2-related disorder
c.2743-17_2744del Single submitter tuberous sclerosis 2
c.3284+1dup Single submitter isolated focal cortical dysplasia type II
c.335_336+14del Single submitter tuberous sclerosis 2
c.3397+1dup Single submitter lymphangioleiomyomatosis
c.3398-1G>C Single submitter tuberous sclerosis 2
c.3398-8_3398-3del Single submitter tuberous sclerosis 2
c.3611-1G>C Single submitter tuberous sclerosis 2
c.3611-2A>G Single submitter tuberous sclerosis 2
c.3611-2A>T Single submitter tuberous sclerosis
c.3814+1G>C Single submitter tuberous sclerosis
c.3814+2T>G Single submitter hereditary neoplastic syndrome
c.3884-1G>T Single submitter tuberous sclerosis 2
c.4005+2T>C Single submitter tuberous sclerosis 2
c.4006-15_4048del Single submitter tuberous sclerosis 2
c.4493+1G>T Single submitter hereditary neoplastic syndrome
c.4494-1G>A Single submitter tuberous sclerosis 2
c.4494-3_4498del Single submitter tuberous sclerosis 2
c.4662+1G>C Single submitter tuberous sclerosis 2
c.482-1G>C Single submitter tuberous sclerosis 2
c.482-1G>T Single submitter TSC2-related disorder
c.4849+1del Single submitter tuberous sclerosis 2
c.5067_5068+8del Single submitter tuberous sclerosis 2
c.5068+1G>C Single submitter tuberous sclerosis 2
c.5068+43_5080del Single submitter tuberous sclerosis 2
c.5069-3_5069-2del Single submitter hereditary neoplastic syndrome
c.5160+2T>A Single submitter hereditary neoplastic syndrome
c.5160+5del Single submitter tuberous sclerosis 2
c.5161-36_5215del Single submitter TSC2-related disorder
c.5161-37_5161-16del Single submitter tuberous sclerosis 2
c.5259+2T>G Single submitter
c.599+2T>C Single submitter hereditary neoplastic syndrome
c.599+5_599+6del Single submitter tuberous sclerosis 2
c.649-2A>G Single submitter tuberous sclerosis 2
c.775-1G>A Single submitter tuberous sclerosis 2
c.848+2T>A Single submitter hereditary neoplastic syndrome
c.976-207_1191del Single submitter tuberous sclerosis 2
p.Ala1124fs Single submitter TSC2-related disorder
p.Ala1622fs Single submitter tuberous sclerosis 2
p.Ala1722Asp Single submitter tuberous sclerosis 2
p.Ala1722Pro Single submitter tuberous sclerosis 2
p.Ala357fs Single submitter tuberous sclerosis 2
p.Ala508Asp Single submitter tuberous sclerosis 2
p.Ala551fs Single submitter TSC2-related disorder
p.Ala870Pro Single submitter tuberous sclerosis 2 ⚠
p.Ala889Pro Single submitter tuberous sclerosis 2
p.Arg1129fs Single submitter tuberous sclerosis 2
p.Arg1200Gly Single submitter tuberous sclerosis 2
p.Arg1369fs Single submitter tuberous sclerosis 2
p.Arg1471fs Single submitter tuberous sclerosis 2
p.Arg1713_Ala1716del Single submitter
p.Arg1713Pro Single submitter tuberous sclerosis 2
p.Arg1743Gly Single submitter tuberous sclerosis 2
p.Arg1743Leu Single submitter tuberous sclerosis 2
p.Arg1745fs Single submitter tuberous sclerosis
p.Arg1745Pro Single submitter TSC2-related disorder ⚠
p.Arg313fs Single submitter TSC2-related disorder
p.Arg367del Single submitter tuberous sclerosis 2
p.Asn1564Lys Single submitter tuberous sclerosis 2
p.Asn1643Ser Single submitter tuberous sclerosis 2
p.Asn1651His Single submitter tuberous sclerosis 2
p.Asn1667fs Single submitter TSC2-related disorder
p.Asn1720fs Single submitter tuberous sclerosis
p.Asn363fs Single submitter tuberous sclerosis 2
p.Asn476fs Single submitter tuberous sclerosis 2
p.Asn941fs Single submitter tuberous sclerosis 2
p.Asp1028Asn Single submitter tuberous sclerosis 2 ⚠
p.Asp1028Gly Single submitter tuberous sclerosis 2 ⚠
p.Asp1028Val Single submitter tuberous sclerosis 2 ⚠
p.Asp1603fs Single submitter lymphangioleiomyomatosis
p.Asp1734fs Single submitter tuberous sclerosis 2
p.Asp439fs Single submitter tuberous sclerosis 2
p.Cys696Arg Single submitter tuberous sclerosis 2
p.Cys696Phe Single submitter
p.Cys900Gly Single submitter tuberous sclerosis 2 ⚠
p.Gln1440fs Single submitter tuberous sclerosis
p.Gln1503Arg Single submitter tuberous sclerosis 2 ⚠
p.Gln1605_Cys1609dup Single submitter tuberous sclerosis 2
p.Gln1616Pro Single submitter hereditary neoplastic syndrome
p.Gln1686Lys Single submitter ⚠
p.Gln373Arg Single submitter tuberous sclerosis 2 ⚠
p.Gln373His Single submitter ⚠
p.Gln492fs Single submitter TSC2-related disorder
p.Glu1107fs Single submitter tuberous sclerosis 2
p.Glu1113fs Single submitter tuberous sclerosis 2
p.Glu1344fs Single submitter
p.Glu281Asp Single submitter tuberous sclerosis 2 ⚠
p.Glu366_Leu372del Single submitter
p.Glu379fs Single submitter lymphangioleiomyomatosis
p.Glu412Ter Single submitter tuberous sclerosis 2
p.Glu481Asp Single submitter tuberous sclerosis 2
p.Glu482fs Single submitter tuberous sclerosis 2
p.Gly1204Arg Single submitter TSC2-related disorder ⚠
p.Gly1567Val Single submitter tuberous sclerosis
p.Gly1579Ser Single submitter tuberous sclerosis 2
p.Gly294fs Single submitter tuberous sclerosis 2
p.Gly300Val Single submitter tuberous sclerosis
p.Gly756fs Single submitter tuberous sclerosis 2
p.His1620Arg Single submitter tuberous sclerosis 2 ⚠
p.His1620Leu Single submitter ⚠
p.His1620Pro Single submitter tuberous sclerosis 2
p.His1633_Lys1638del Single submitter hereditary neoplastic syndrome
p.His385fs Single submitter
p.His597Tyr Single submitter isolated focal cortical dysplasia type II ⚠
p.Ile1545Thr Single submitter
p.Ile1797fs Single submitter TSC2-related disorder
p.Ile346Asn Single submitter tuberous sclerosis 2
p.Ile364fs Single submitter tuberous sclerosis 2
p.Ile912Thr Single submitter tuberous sclerosis 2
p.Leu1027fs Single submitter tuberous sclerosis 2
p.Leu104Pro Single submitter tuberous sclerosis 2
p.Leu1061Pro Single submitter hereditary neoplastic syndrome
p.Leu1394Pro Single submitter ovarian cancer ⚠
p.Leu160Val Single submitter tuberous sclerosis ⚠
p.Leu1676fs Single submitter tuberous sclerosis 2
p.Leu1682Pro Single submitter hereditary neoplastic syndrome
p.Leu1708fs Single submitter tuberous sclerosis
p.Leu1708Pro Single submitter hereditary neoplastic syndrome
p.Leu1744Pro Single submitter tuberous sclerosis
p.Leu1765fs Single submitter tuberous sclerosis 2
p.Leu243Pro Single submitter tuberous sclerosis 2
p.Leu264Pro Single submitter tuberous sclerosis
p.Leu303Pro Single submitter hereditary neoplastic syndrome
p.Leu353Phe Single submitter
p.Leu361fs Single submitter tuberous sclerosis 2
p.Leu466Arg Single submitter tuberous sclerosis
p.Leu466Pro Single submitter tuberous sclerosis 2
p.Leu493His Single submitter TSC2-related disorder
p.Leu619_Leu621dup Single submitter tuberous sclerosis 2
p.Leu621_Arg622insLeu Single submitter tuberous sclerosis 2
p.Leu688fs Single submitter TSC2-related disorder
p.Leu737Pro Single submitter tuberous sclerosis
p.Leu796_Ile819del Single submitter
p.Leu808Ser Single submitter tuberous sclerosis 2
p.Lys1043Ter Single submitter tuberous sclerosis 2
p.Lys1262fs Single submitter
p.Lys1491Ter Single submitter tuberous sclerosis 2
p.Lys1585fs Single submitter tuberous sclerosis 2
p.Lys1663Asn Single submitter ⚠
p.Lys1748fs Single submitter tuberous sclerosis 2
p.Lys533Asn Single submitter
p.Lys533Ter Single submitter TSC2-related disorder
p.Lys914Ter Single submitter isolated focal cortical dysplasia type II
p.Met1625Lys Single submitter tuberous sclerosis 2
p.Met1Arg Single submitter tuberous sclerosis 2
p.Met1Ile Single submitter
p.Met1Lys Single submitter tuberous sclerosis 2
p.Phe1803fs Single submitter tuberous sclerosis 2
p.Phe724fs Single submitter tuberous sclerosis 2
p.Phe846fs Single submitter tuberous sclerosis 2
p.Pro1042fs Single submitter tuberous sclerosis 2
p.Pro1675Ser Single submitter tuberous sclerosis 2
p.Pro1766fs Single submitter hereditary neoplastic syndrome
p.Pro824del Single submitter tuberous sclerosis 2
p.Ser1045Phe Single submitter
p.Ser1232fs Single submitter TSC2-related disorder
p.Ser1252fs Single submitter tuberous sclerosis 2
p.Ser1383fs Single submitter isolated focal cortical dysplasia type II
p.Ser1431Ter Single submitter TSC2-related disorder
p.Ser1498Ile Single submitter tuberous sclerosis 2 ⚠
p.Ser1647_Val1649del Single submitter
p.Ser1684Pro Single submitter tuberous sclerosis
p.Ser601Arg Single submitter tuberous sclerosis 2 ⚠
p.Ser867fs Single submitter tuberous sclerosis 2
p.Ter1808CysextTer? Single submitter hereditary neoplastic syndrome
p.Thr1068Pro Single submitter tuberous sclerosis 2
p.Thr1206Pro Single submitter tuberous sclerosis 2
p.Thr509Pro Single submitter hereditary neoplastic syndrome
p.Thr562del Single submitter tuberous sclerosis 2
p.Thr5fs Single submitter
p.Thr849Pro Single submitter tuberous sclerosis 2
p.Trp1430Ter Single submitter isolated focal cortical dysplasia type II
p.Tyr1186fs Single submitter tuberous sclerosis 2
p.Tyr1461Ter Single submitter
p.Tyr1549His Single submitter tuberous sclerosis 2
p.Tyr1571fs Single submitter TSC2-related disorder
p.Tyr1593fs Single submitter TSC2-related disorder
p.Tyr407Ter Single submitter tuberous sclerosis 2
p.Tyr598Asn Single submitter tuberous sclerosis
p.Tyr598Ter Single submitter tuberous sclerosis 2
p.Tyr648Ter Single submitter tuberous sclerosis 2
p.Tyr865fs Single submitter
p.Tyr875Asp Single submitter tuberous sclerosis 2
p.Val101_Leu102insVal Single submitter tuberous sclerosis 2
p.Val1353fs Single submitter tuberous sclerosis 2
p.Val1671Glu Single submitter
p.Val1699fs Single submitter tuberous sclerosis 2
p.Val391Glu Single submitter hereditary neoplastic syndrome
p.Val709Gly Single submitter tuberous sclerosis 2
p.Val709Phe Single submitter tuberous sclerosis 2
p.Val909fs Single submitter tuberous sclerosis 2
c.2744_2751del8 No assertion criteria TSC2-related disorder
p.Arg852fs No assertion criteria TSC2-related disorder
p.Asp1541del No assertion criteria tuberous sclerosis 2
p.Pro237fs No assertion criteria tuberous sclerosis 2
p.Ser937fs No assertion criteria TSC2-related disorder
p.Val1175fs No assertion criteria tuberous sclerosis 2
p.Val241fs No assertion criteria TSC2-related disorder

Conflicting classifications of pathogenicity 1500

Showing the top 300 by review status; the full set is in the sitemap.

c.1119+3G>C Single submitter hereditary neoplastic syndrome
c.1119+6_1119+28del Single submitter tuberous sclerosis 2
c.1119+6G>A Single submitter tuberous sclerosis 2
c.1119+6G>T Single submitter tuberous sclerosis 2
c.1120-4G>A Single submitter hereditary neoplastic syndrome
c.1120-5T>C Single submitter hereditary neoplastic syndrome
c.1120-7A>G Single submitter tuberous sclerosis
c.1257+5G>A Single submitter hereditary neoplastic syndrome
c.1257+8C>A Single submitter tuberous sclerosis
c.1257+9C>G Single submitter tuberous sclerosis 2
c.1258-10_1258-8del Single submitter tuberous sclerosis
c.1258-10C>G Single submitter tuberous sclerosis 2
c.1258-4A>T Single submitter hereditary neoplastic syndrome
c.1258-5G>A Single submitter tuberous sclerosis 2
c.1258-5G>T Single submitter hereditary neoplastic syndrome
c.1258-8T>G Single submitter tuberous sclerosis 2
c.1361+13C>T Single submitter tuberous sclerosis
c.1361+6G>A Single submitter hereditary neoplastic syndrome
c.1362-10C>A Single submitter TSC2-related disorder
c.1362-5del Single submitter hereditary neoplastic syndrome
c.1362-9G>A Single submitter tuberous sclerosis 2
c.138+6T>C Single submitter tuberous sclerosis
c.139-11TC[3] Single submitter tuberous sclerosis
c.139-15T>G Single submitter tuberous sclerosis
c.139-9_139-8delinsCT Single submitter tuberous sclerosis 2
c.1443+4C>A Single submitter tuberous sclerosis 2
c.1443+4C>G Single submitter tuberous sclerosis 2
c.1443+4C>T Single submitter dystonia, early-onset, and/or spastic paraplegia
c.1443+5G>A Single submitter tuberous sclerosis 2
c.1599+10G>A Single submitter hereditary neoplastic syndrome
c.1599+19G>A Single submitter tuberous sclerosis 2
c.1599+4A>T Single submitter lymphangioleiomyomatosis
c.1599+5G>A Single submitter tuberous sclerosis 2
c.1600-10C>T Single submitter hereditary neoplastic syndrome
c.1600-14C>A Single submitter tuberous sclerosis 2
c.1600-3A>G Single submitter hereditary neoplastic syndrome
c.1600-9T>C Single submitter tuberous sclerosis
c.1716+15C>G Single submitter tuberous sclerosis 2
c.1716+3G>C Single submitter tuberous sclerosis 2
c.1717-3C>A Single submitter hereditary neoplastic syndrome
c.1717-4del Single submitter tuberous sclerosis
c.1839+4T>C Single submitter tuberous sclerosis 2
c.1839+5G>C Single submitter tuberous sclerosis
c.1839+6G>A Single submitter hereditary neoplastic syndrome
c.1839+9G>A Single submitter lymphangioleiomyomatosis
c.1840-3C>T Single submitter hereditary neoplastic syndrome
c.1840-4A>G Single submitter lymphangioleiomyomatosis
c.1840-5G>C Single submitter hereditary neoplastic syndrome
c.1840-6T>A Single submitter tuberous sclerosis
c.1840-8C>G Single submitter tuberous sclerosis 2
c.1946+3A>C Single submitter tuberous sclerosis 2
c.1946+3A>G Single submitter tuberous sclerosis 2
c.1946+4C>T Single submitter hereditary neoplastic syndrome
c.1946+5G>A Single submitter hereditary neoplastic syndrome
c.1946+5G>T Single submitter hereditary neoplastic syndrome
c.1946+9G>T Single submitter tuberous sclerosis 2
c.2097+5G>C Single submitter tuberous sclerosis
c.2098-3C>T Single submitter hereditary neoplastic syndrome
c.2098-4G>T Single submitter tuberous sclerosis
c.2098-5C>G Single submitter hereditary neoplastic syndrome
c.2098-5C>T Single submitter hereditary neoplastic syndrome
c.2220+4C>G Single submitter hereditary neoplastic syndrome
c.2220+5C>T Single submitter hereditary neoplastic syndrome
c.2221-10T>C Single submitter hereditary neoplastic syndrome
c.2221-5A>G Single submitter hereditary neoplastic syndrome
c.2221-6C>T Single submitter hereditary neoplastic syndrome
c.2221-8G>A Single submitter tuberous sclerosis 2
c.225+4G>A Single submitter hereditary neoplastic syndrome
c.226-13C>T Single submitter hereditary neoplastic syndrome
c.226-1G>A Single submitter TSC2-related disorder ⚠
c.226-3C>T Single submitter tuberous sclerosis 2
c.226-4A>G Single submitter hereditary neoplastic syndrome
c.2355+19A>T Single submitter tuberous sclerosis 2
c.2355+5G>A Single submitter hereditary neoplastic syndrome
c.2355+6A>T Single submitter tuberous sclerosis 2
c.2355+8G>A Single submitter tuberous sclerosis
c.2356-12T>C Single submitter tuberous sclerosis 2
c.2356-15T>A Single submitter tuberous sclerosis
c.2356-4_2356-3delinsAG Single submitter tuberous sclerosis 2
c.2356-5T>G Single submitter hereditary neoplastic syndrome
c.2545+3G>A Single submitter tuberous sclerosis
c.2546-15T>A Single submitter tuberous sclerosis 2
c.2546-15T>G Single submitter tuberous sclerosis 2
c.2546-6C>A Single submitter hereditary neoplastic syndrome
c.2639+10C>T Single submitter tuberous sclerosis
c.2639+6T>C Single submitter tuberous sclerosis 2
c.2640-10C>G Single submitter tuberous sclerosis 2
c.2640-13C>A Single submitter tuberous sclerosis 2
c.2640-15C>G Single submitter tuberous sclerosis
c.2640-4_2640-3del Single submitter tuberous sclerosis
c.2640-4T>C Single submitter tuberous sclerosis
c.2640-7A>G Single submitter tuberous sclerosis 2
c.2742+3G>A Single submitter tuberous sclerosis 2
c.2742+4G>A Single submitter hereditary neoplastic syndrome
c.2742+4G>T Single submitter hereditary neoplastic syndrome
c.2742+5dup Single submitter hereditary neoplastic syndrome
c.2742+6C>G Single submitter tuberous sclerosis 2
c.2742+6C>T Single submitter tuberous sclerosis 2
c.2743-11C>A Single submitter lymphangioleiomyomatosis
c.2743-3C>T Single submitter hereditary neoplastic syndrome
c.2837+10G>T Single submitter tuberous sclerosis 2
c.2837+13G>C Single submitter tuberous sclerosis 2
c.2837+4C>T Single submitter hereditary neoplastic syndrome
c.2838-10C>T Single submitter tuberous sclerosis
c.2838-3T>C Single submitter hereditary neoplastic syndrome
c.2838-6C>T Single submitter tuberous sclerosis
c.2966+15G>A Single submitter tuberous sclerosis 2
c.2966+17G>A Single submitter tuberous sclerosis 2
c.2966+24del Single submitter lymphangioleiomyomatosis
c.2966+4G>T Single submitter hereditary neoplastic syndrome
c.2966+5C>T Single submitter tuberous sclerosis 2
c.2967-15G>A Single submitter isolated focal cortical dysplasia type II
c.2967-1G>A Single submitter hereditary neoplastic syndrome ⚠
c.2967-1G>T Single submitter hereditary neoplastic syndrome ⚠
c.2967-7C>T Single submitter tuberous sclerosis 2
c.3131+3C>A Single submitter tuberous sclerosis 2
c.3131+4C>G Single submitter lymphangioleiomyomatosis
c.3132-11_3132-10del Single submitter tuberous sclerosis 2
c.3132-13C>T Single submitter tuberous sclerosis
c.3132-3T>C Single submitter hereditary neoplastic syndrome
c.3284+3G>A Single submitter hereditary neoplastic syndrome
c.3284+6T>G Single submitter tuberous sclerosis
c.3285-13A>T Single submitter tuberous sclerosis 2
c.3285-3C>A Single submitter hereditary neoplastic syndrome
c.3285-3C>T Single submitter hereditary neoplastic syndrome
c.3285-5C>G Single submitter tuberous sclerosis 2
c.3285-5C>T Single submitter hereditary neoplastic syndrome
c.336+14C>T Single submitter tuberous sclerosis 2
c.337-15G>C Single submitter tuberous sclerosis
c.337-5T>C Single submitter tuberous sclerosis
c.3397+15C>T Single submitter tuberous sclerosis 2
c.3397+5G>A Single submitter tuberous sclerosis 2
c.3397+6C>G Single submitter lymphangioleiomyomatosis
c.3398-2A>G Single submitter tuberous sclerosis 2 ⚠
c.3398-5_3398-3del Single submitter hereditary neoplastic syndrome
c.3610+4C>T Single submitter tuberous sclerosis 2
c.3610+6G>A Single submitter hereditary neoplastic syndrome
c.3611-11C>G Single submitter tuberous sclerosis 2
c.3611-3C>T Single submitter hereditary neoplastic syndrome
c.3611-9C>T Single submitter tuberous sclerosis 2
c.3814+14C>T Single submitter isolated focal cortical dysplasia type II
c.3814+5G>A Single submitter hereditary neoplastic syndrome
c.3815-15G>T Single submitter tuberous sclerosis 2
c.3815-1G>A Single submitter tuberous sclerosis ⚠
c.3815-3C>G Single submitter hereditary neoplastic syndrome
c.3815-3C>T Single submitter hereditary neoplastic syndrome
c.3815-4G>T Single submitter tuberous sclerosis 2
c.3815-8C>G Single submitter tuberous sclerosis 2
c.3815-8C>T Single submitter tuberous sclerosis 2
c.3883+17G>A Single submitter tuberous sclerosis 2
c.3883+5C>T Single submitter hereditary neoplastic syndrome
c.3883+6G>A Single submitter hereditary neoplastic syndrome
c.3884-17C>G Single submitter hereditary neoplastic syndrome
c.3884-3C>T Single submitter hereditary neoplastic syndrome
c.3884-8C>G Single submitter hereditary neoplastic syndrome
c.4005+10G>T Single submitter tuberous sclerosis 2
c.4005+4_4005+7dup Single submitter tuberous sclerosis 2
c.4006-12G>A Single submitter tuberous sclerosis 2
c.4006-5T>C Single submitter tuberous sclerosis
c.4006-6T>C Single submitter tuberous sclerosis
c.4006-7T>G Single submitter tuberous sclerosis 2
c.4493+3G>A Single submitter hereditary neoplastic syndrome
c.4493+7C>A Single submitter tuberous sclerosis
c.4494-10C>A Single submitter hereditary neoplastic syndrome
c.4569+12C>T Single submitter tuberous sclerosis 2
c.4569+5G>A Single submitter hereditary neoplastic syndrome
c.4569+6C>T Single submitter hereditary neoplastic syndrome
c.4570-13C>G Single submitter hereditary neoplastic syndrome
c.4570-15C>A Single submitter tuberous sclerosis 2
c.4570-1G>A Single submitter tuberous sclerosis ⚠
c.4570-21_4570-11dup Single submitter tuberous sclerosis 2
c.4570-3C>T Single submitter tuberous sclerosis 2
c.4570-5C>T Single submitter tuberous sclerosis 2
c.4570-66G>A Single submitter hereditary neoplastic syndrome
c.4572_4577dup Single submitter hereditary neoplastic syndrome
c.4662+11G>A Single submitter tuberous sclerosis 2
c.4662+7C>G Single submitter tuberous sclerosis 2
c.482-13G>A Single submitter tuberous sclerosis 2
c.4849+12C>T Single submitter tuberous sclerosis
c.4849+20C>T Single submitter hereditary neoplastic syndrome
c.4849+3A>G Single submitter hereditary neoplastic syndrome
c.4849+4C>A Single submitter hereditary neoplastic syndrome
c.4849+5G>A Single submitter tuberous sclerosis 2
c.4850-10T>A Single submitter tuberous sclerosis 2
c.4850-11C>T Single submitter tuberous sclerosis
c.4850-3C>T Single submitter tuberous sclerosis
c.4850-5C>T Single submitter tuberous sclerosis 2
c.4989+18_4989+19insTGGTGAGTGAGGGGCCGTCA Single submitter tuberous sclerosis
c.4989+5G>A Single submitter hereditary neoplastic syndrome
c.4989+6_4989+9del Single submitter tuberous sclerosis
c.4989+6dup Single submitter tuberous sclerosis 2
c.4989+7G>C Single submitter hereditary neoplastic syndrome
c.4990-1G>A Single submitter hereditary neoplastic syndrome ⚠
c.4990-5G>C Single submitter hereditary neoplastic syndrome
c.4990-6G>A Single submitter tuberous sclerosis 2
c.5061_5069-47dup Single submitter tuberous sclerosis 2
c.5065_5068+7dup Single submitter hereditary neoplastic syndrome
c.5068+2_5068+6dup Single submitter hereditary neoplastic syndrome ⚠
c.5068+8C>T Single submitter tuberous sclerosis 2
c.5068+9G>A Single submitter tuberous sclerosis 2
c.5069-10G>A Single submitter tuberous sclerosis 2
c.5069-10G>C Single submitter tuberous sclerosis 2
c.5069-11A>C Single submitter tuberous sclerosis
c.5069-11A>G Single submitter hereditary neoplastic syndrome
c.5069-3C>T Single submitter tuberous sclerosis
c.5069-5C>T Single submitter hereditary neoplastic syndrome
c.5160+2dup Single submitter hereditary neoplastic syndrome ⚠
c.5160+3G>A Single submitter tuberous sclerosis
c.5160+4_5160+7dup Single submitter hereditary neoplastic syndrome
c.5161-12C>G Single submitter tuberous sclerosis
c.5161-5C>A Single submitter hereditary neoplastic syndrome
c.5161-5C>G Single submitter hereditary neoplastic syndrome
c.5161-5C>T Single submitter tuberous sclerosis 2
c.5259+15G>A Single submitter tuberous sclerosis 2
c.5259+2_5259+28dup Single submitter tuberous sclerosis ⚠
c.5259+2T>A Single submitter hereditary neoplastic syndrome ⚠
c.5259+4G>A Single submitter tuberous sclerosis 2
c.5260-10_5260-5del Single submitter hereditary neoplastic syndrome
c.5260-13C>T Single submitter hereditary neoplastic syndrome
c.5260-1G>C Single submitter tuberous sclerosis ⚠
c.5260-2A>C Single submitter tuberous sclerosis 2 ⚠
c.5260-3C>T Single submitter hereditary neoplastic syndrome
c.599+3A>G Single submitter tuberous sclerosis 2
c.599+4A>G Single submitter tuberous sclerosis 2
c.599+9A>G Single submitter tuberous sclerosis 2
c.600-145C>T Single submitter tuberous sclerosis
c.600-4G>T Single submitter hereditary neoplastic syndrome
c.600-5T>C Single submitter hereditary neoplastic syndrome
c.641_648+1del Single submitter hereditary neoplastic syndrome ⚠
c.648+6T>C Single submitter tuberous sclerosis
c.649-13C>T Single submitter hereditary neoplastic syndrome
c.774+3G>A Single submitter tuberous sclerosis 2
c.774+4G>A Single submitter hereditary neoplastic syndrome
c.775-3C>T Single submitter hereditary neoplastic syndrome
c.775-5C>G Single submitter hereditary neoplastic syndrome
c.775-5C>T Single submitter hereditary neoplastic syndrome
c.775-7C>G Single submitter tuberous sclerosis 2
c.848+5G>A Single submitter hereditary neoplastic syndrome
c.848+5G>T Single submitter tuberous sclerosis 2
c.849-13G>A Single submitter tuberous sclerosis
c.849-3T>C Single submitter tuberous sclerosis 2
c.849-4_849-3del Single submitter tuberous sclerosis
c.849-4T>C Single submitter tuberous sclerosis
c.849-6T>G Single submitter tuberous sclerosis 2
c.849-8A>G Single submitter tuberous sclerosis
c.849-9dup Single submitter tuberous sclerosis 2
c.975+7C>T Single submitter tuberous sclerosis 2
c.975+8G>A Single submitter hereditary neoplastic syndrome
c.976-10C>T Single submitter tuberous sclerosis 2
c.976-3del Single submitter tuberous sclerosis 2
c.976-9G>A Single submitter tuberous sclerosis 2
c.*4C>T Single submitter hereditary neoplastic syndrome
c.*5G>A Single submitter hereditary neoplastic syndrome
c.*5G>T Single submitter tuberous sclerosis
c.*6G>C Single submitter tuberous sclerosis
c.*7G>A Single submitter tuberous sclerosis
p.Ala100Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala100Val Single submitter tuberous sclerosis 2 ⚠
p.Ala1011Ser Single submitter tuberous sclerosis 2 ⚠
p.Ala1053Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1108Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1110Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1110Pro Single submitter tuberous sclerosis 2
p.Ala1116Gly Single submitter tuberous sclerosis 2 ⚠
p.Ala1161Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1163Ser Single submitter isolated focal cortical dysplasia type II ⚠
p.Ala1164= Single submitter hereditary neoplastic syndrome
p.Ala1164Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1169Thr Single submitter tuberous sclerosis 2 ⚠
p.Ala1184Glu Single submitter hereditary neoplastic syndrome
p.Ala1184Val Single submitter tuberous sclerosis 2 ⚠
p.Ala1185Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1195Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala121Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala1237Val Single submitter TSC2-related disorder
p.Ala1261Val Single submitter tuberous sclerosis 2 ⚠
p.Ala1273Thr Single submitter tuberous sclerosis ⚠
p.Ala1273Val Single submitter tuberous sclerosis 2 ⚠
p.Ala1297Thr Single submitter isolated focal cortical dysplasia type II ⚠
p.Ala1297Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1322Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1323Pro Single submitter tuberous sclerosis 2 ⚠
p.Ala1323Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1332Val Single submitter tuberous sclerosis 2 ⚠
p.Ala1349Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1416Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1428Thr Single submitter tuberous sclerosis ⚠
p.Ala1429Ser Single submitter isolated focal cortical dysplasia type II ⚠
p.Ala1429Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1467Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala1479Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1484Thr Single submitter isolated focal cortical dysplasia type II ⚠
p.Ala1486Val Single submitter isolated focal cortical dysplasia type II ⚠
p.Ala1489Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1546Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1560Thr Single submitter ovarian cancer ⚠
p.Ala1622Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1712Val Single submitter tuberous sclerosis ⚠
p.Ala1719Glu Single submitter tuberous sclerosis 2 ⚠
p.Ala1719Thr Single submitter hereditary neoplastic syndrome ⚠

Benign 220

c.1120-93T>C Multiple submitters tuberous sclerosis 2
c.138+14C>G Multiple submitters tuberous sclerosis
c.1444-201G>A Multiple submitters
c.1600-14C>T Multiple submitters tuberous sclerosis
c.1600-39C>T Multiple submitters tuberous sclerosis
c.1717-55T>C Multiple submitters tuberous sclerosis 2
c.2098-114A>G Multiple submitters
c.2220+182C>T Multiple submitters
c.2221-28A>G Multiple submitters tuberous sclerosis
c.2545+157G>C Multiple submitters
c.2545+194A>G Multiple submitters
c.2545+240C>T Multiple submitters
c.2546-12C>T Multiple submitters tuberous sclerosis
c.2639+44C>G Multiple submitters tuberous sclerosis 2
c.2838-282A>C Multiple submitters
c.2967-118T>C Multiple submitters
c.3398-140C>T Multiple submitters
c.3610+10G>A Multiple submitters tuberous sclerosis 2
c.3610+42dup Multiple submitters tuberous sclerosis
c.3883+226G>A Multiple submitters
c.3884-56C>G Multiple submitters tuberous sclerosis
c.4005+84C>T Multiple submitters
c.4569+47G>A Multiple submitters tuberous sclerosis 2
c.482-68C>G Multiple submitters tuberous sclerosis
c.4850-109T>C Multiple submitters tuberous sclerosis
c.4989+107A>C Multiple submitters
c.5161-9C>T Multiple submitters polycystic kidney disease 1
c.5260-25C>G Multiple submitters polycystic kidney disease 1
c.5260-49C>T Multiple submitters tuberous sclerosis 2
c.848+143G>T Multiple submitters
c.976-100C>G Multiple submitters tuberous sclerosis 2
c.976-63G>A Multiple submitters tuberous sclerosis
c.*256C>T Multiple submitters
c.*258C>T Multiple submitters
c.*26G>A Multiple submitters tuberous sclerosis
p.Arg367Gln Multiple submitters lymphangioleiomyomatosis
p.Asp1734= Multiple submitters hereditary neoplastic syndrome
p.Glu1655= Multiple submitters tuberous sclerosis 2
p.Ser526= Multiple submitters hereditary neoplastic syndrome
c.1119+12del Single submitter tuberous sclerosis 2
c.1257+11dup Single submitter tuberous sclerosis 2
c.1361+8dup Single submitter tuberous sclerosis 2
c.1443+256G>A Single submitter
c.1599+216T>G Single submitter
c.1599+270CTGGGG[3] Single submitter
c.1600-310C>T Single submitter
c.1600-83dup Single submitter
c.1600-84_1600-83del Single submitter
c.1600-85_1600-83del Single submitter
c.1600-97_1600-83del Single submitter
c.1716+183A>G Single submitter
c.1716+221T>C Single submitter
c.225+133del Single submitter
c.2355+261dup Single submitter
c.2545+95dup Single submitter tuberous sclerosis
c.2546-249dup Single submitter
c.2639+15del Single submitter tuberous sclerosis 2
c.2640-13del Single submitter tuberous sclerosis 2
c.2742+33C>T Single submitter
c.2837+16dup Single submitter tuberous sclerosis 2
c.2837+220C>T Single submitter
c.2838-372C>T Single submitter
c.2966+121C>G Single submitter
c.2966+24dup Single submitter tuberous sclerosis 2
c.2966+92_2966+94dup Single submitter tuberous sclerosis
c.3284+25C>T Single submitter tuberous sclerosis 2
c.336+32C>T Single submitter tuberous sclerosis
c.337-26G>C Single submitter
c.3397+126C>T Single submitter
c.3397+15dup Single submitter tuberous sclerosis 2
c.3610+124dup Single submitter
c.3610+13del Single submitter tuberous sclerosis 2
c.3610+168G>A Single submitter
c.3610+170A>C Single submitter
c.3610+262A>G Single submitter
c.3814+141C>T Single submitter
c.3883+11_3883+12del Single submitter tuberous sclerosis 2
c.3883+37C>T Single submitter tuberous sclerosis
c.3884-17del Single submitter tuberous sclerosis 2
c.3884-37A>T Single submitter
c.4494-12del Single submitter tuberous sclerosis 2
c.4663-38_4663-18dup Single submitter tuberous sclerosis
c.482-3dup Single submitter tuberous sclerosis 2
c.4849+20C>G Single submitter tuberous sclerosis 2
c.4849+97del Single submitter tuberous sclerosis
c.4989+134G>A Single submitter
c.4990-26_4990-4dup Single submitter tuberous sclerosis 2
c.5068+16del Single submitter tuberous sclerosis 2
c.5069-46_5069-19dup Single submitter tuberous sclerosis 2
c.5160+37C>T Single submitter tuberous sclerosis
c.5161-16del Single submitter tuberous sclerosis 2
c.5260-48G>A Single submitter tuberous sclerosis 2
c.600-287del Single submitter
c.600-287dup Single submitter
c.648+117C>G Single submitter tuberous sclerosis
c.648+14dup Single submitter tuberous sclerosis 2
c.975+187_975+188dup Single submitter
c.*10_*21del Single submitter tuberous sclerosis 2
c.*10C>G Single submitter tuberous sclerosis 2
c.*10C>T Single submitter tuberous sclerosis 2
c.*1G>A Single submitter tuberous sclerosis 2
c.*272_*273insGCACAC Single submitter
c.*272_*273insGCACACAC Single submitter
c.*272CA[6] Single submitter
c.*272CA[7] Single submitter
c.*278del Single submitter
c.*280_*282del Single submitter
c.*3C>T Single submitter tuberous sclerosis 2
c.*61_*62del Single submitter tuberous sclerosis
c.*6G>A Single submitter tuberous sclerosis 2
c.*7G>C Single submitter tuberous sclerosis 2
c.*7G>T Single submitter tuberous sclerosis 2
c.*8del Single submitter tuberous sclerosis 2
c.*8G>A Single submitter tuberous sclerosis 2
c.*9C>T Single submitter tuberous sclerosis 2
p.Ala1432Thr Single submitter tuberous sclerosis 2
p.Ala1778Glu Single submitter tuberous sclerosis 2
p.Ala86Glu Single submitter tuberous sclerosis 2
p.Ala889= Single submitter tuberous sclerosis 2
p.Arg1127= Single submitter tuberous sclerosis 2
p.Arg1457= Single submitter tuberous sclerosis 2
p.Arg1580= Single submitter tuberous sclerosis 2
p.Arg197= Single submitter tuberous sclerosis 2
p.Arg261= Single submitter tuberous sclerosis 2
p.Arg381Gly Single submitter tuberous sclerosis 2
p.Asn1064= Single submitter tuberous sclerosis 2
p.Asn133Thr Single submitter tuberous sclerosis 2
p.Asn1731Ser Single submitter tuberous sclerosis 2
p.Asn248Ile Single submitter tuberous sclerosis 2 ⚠
p.Asn525_Ser526= Single submitter tuberous sclerosis 2
p.Asn56= Single submitter tuberous sclerosis 2
p.Asp1652Glu Single submitter tuberous sclerosis 2 ⚠
p.Asp1656Asn Single submitter tuberous sclerosis 2
p.Asp1696His Single submitter tuberous sclerosis 2
p.Asp282= Single submitter tuberous sclerosis 2
p.Asp282Asn Single submitter tuberous sclerosis 2
p.Asp416Gly Single submitter tuberous sclerosis 2
p.Asp731His Single submitter tuberous sclerosis 2 ⚠
p.Asp781= Single submitter tuberous sclerosis 2
p.Asp781Asn Single submitter tuberous sclerosis 2 ⚠
p.Asp8= Single submitter tuberous sclerosis 2
p.Asp926Asn Single submitter tuberous sclerosis 2
p.Cys1755Tyr Single submitter tuberous sclerosis 2
p.Gln1280= Single submitter tuberous sclerosis 2
p.Gln354His Single submitter tuberous sclerosis 2
p.Gln510His Single submitter tuberous sclerosis 2 ⚠
p.Gln90His Single submitter tuberous sclerosis 2
p.Glu114= Single submitter tuberous sclerosis 2
p.Glu1167Lys Single submitter tuberous sclerosis 2
p.Glu1196= Single submitter tuberous sclerosis 2
p.Glu1390Gln Single submitter tuberous sclerosis 2 ⚠
p.Glu66Gln Single submitter ovarian cancer
p.Glu96= Single submitter tuberous sclerosis 2
p.Gly1074= Single submitter tuberous sclerosis 2
p.Gly1303Arg Single submitter tuberous sclerosis 2
p.Gly1367= Single submitter tuberous sclerosis 2
p.Gly1421= Single submitter tuberous sclerosis 2
p.Gly1439= Single submitter tuberous sclerosis 2
p.Gly22Arg Single submitter tuberous sclerosis 2
p.Gly265= Single submitter tuberous sclerosis 2
p.His385Tyr Single submitter tuberous sclerosis 2
p.Ile1537= Single submitter tuberous sclerosis 2
p.Ile346Leu Single submitter tuberous sclerosis 2
p.Ile39Thr Single submitter tuberous sclerosis 2
p.Ile490= Single submitter tuberous sclerosis 2
p.Leu1066= Single submitter tuberous sclerosis 2
p.Leu1112= Single submitter tuberous sclerosis 2
p.Leu1235Phe Single submitter tuberous sclerosis 2 ⚠
p.Leu1676= Single submitter tuberous sclerosis 2
p.Leu1694Pro Single submitter tuberous sclerosis 2
p.Leu1750Phe Single submitter tuberous sclerosis 2 ⚠
p.Leu423Ile Single submitter tuberous sclerosis 2
p.Leu424Pro Single submitter tuberous sclerosis 2
p.Leu54= Single submitter tuberous sclerosis 2
p.Leu620Val Single submitter tuberous sclerosis 2
p.Lys1180= Single submitter tuberous sclerosis 2
p.Lys1415= Single submitter tuberous sclerosis 2
p.Met1236Leu Single submitter tuberous sclerosis 2 ⚠
p.Phe1666= Single submitter tuberous sclerosis 2
p.Phe975= Single submitter tuberous sclerosis 2
p.Pro1264= Single submitter tuberous sclerosis 2
p.Pro1412= Single submitter tuberous sclerosis 2
p.Pro1412Arg Single submitter tuberous sclerosis 2
p.Pro1538= Single submitter tuberous sclerosis 2
p.Pro28= Single submitter tuberous sclerosis 2
p.Pro632Leu Single submitter tuberous sclerosis 2 ⚠
p.Pro672Arg Single submitter tuberous sclerosis 2
p.Pro674= Single submitter tuberous sclerosis 2
p.Pro677Ser Single submitter tuberous sclerosis 2
p.Pro744Leu Single submitter tuberous sclerosis 2
p.Ser1130Cys Single submitter tuberous sclerosis 2
p.Ser1147Phe Single submitter tuberous sclerosis 2
p.Ser1170Pro Single submitter tuberous sclerosis 2
p.Ser1220= Single submitter tuberous sclerosis 2
p.Ser1274Pro Single submitter tuberous sclerosis 2
p.Ser1341Asn Single submitter tuberous sclerosis 2 ⚠
p.Ser1433= Single submitter tuberous sclerosis 2
p.Ser1514= Single submitter tuberous sclerosis 2
p.Ser1563Cys Single submitter tuberous sclerosis 2 ⚠
p.Ser1704Ala Single submitter tuberous sclerosis 2 ⚠
p.Ser1799Pro Single submitter tuberous sclerosis 2 ⚠
p.Ser322Leu Single submitter tuberous sclerosis 2 ⚠
p.Ser335= Single submitter tuberous sclerosis 2
p.Ser433Pro Single submitter tuberous sclerosis 2
p.Ser6Thr Single submitter tuberous sclerosis 2
p.Thr147= Single submitter tuberous sclerosis 2
p.Thr1733_Asp1734= Single submitter tuberous sclerosis 2
p.Thr1733Ser Single submitter tuberous sclerosis 2
p.Thr876Ser Single submitter tuberous sclerosis 2 ⚠
p.Tyr130His Single submitter tuberous sclerosis 2
p.Tyr1678His Single submitter tuberous sclerosis 2 ⚠
p.Val1047Met Single submitter tuberous sclerosis 2
p.Val1175Ala Single submitter tuberous sclerosis 2
p.Val1310= Single submitter tuberous sclerosis 2
p.Val1492Leu Single submitter tuberous sclerosis 2
p.Val1531= Single submitter tuberous sclerosis 2
p.Val1669= Single submitter tuberous sclerosis 2
p.Val586Leu Single submitter tuberous sclerosis 2 ⚠
p.Val705= Single submitter tuberous sclerosis 2
p.Val767Phe Single submitter tuberous sclerosis 2

Benign/Likely benign 999

Showing the top 300 by review status; the full set is in the sitemap.

p.Ile1702= Multiple submitters hereditary neoplastic syndrome
p.Ser1799= Multiple submitters hereditary neoplastic syndrome
c.1119+12dup Multiple submitters lymphangioleiomyomatosis
c.1119+6G>C Multiple submitters lymphangioleiomyomatosis
c.1120-12C>T Multiple submitters tuberous sclerosis 2
c.1120-16G>A Multiple submitters tuberous sclerosis 2
c.1120-17C>T Multiple submitters tuberous sclerosis 2
c.1257+10C>G Multiple submitters tuberous sclerosis 2
c.1257+11del Multiple submitters tuberous sclerosis
c.1257+14C>T Multiple submitters tuberous sclerosis 2
c.1361+16T>G Multiple submitters tuberous sclerosis 2
c.1361+18G>C Multiple submitters tuberous sclerosis 2
c.1361+20C>G Multiple submitters tuberous sclerosis 2
c.1361+8del Multiple submitters tuberous sclerosis 2
c.1362-10C>T Multiple submitters hereditary neoplastic syndrome
c.1362-4G>A Multiple submitters hereditary neoplastic syndrome
c.1362-5C>T Multiple submitters hereditary neoplastic syndrome
c.138+20C>G Multiple submitters tuberous sclerosis 2
c.139-6C>T Multiple submitters tuberous sclerosis
c.1443+15G>A Multiple submitters tuberous sclerosis 2
c.1443+18C>T Multiple submitters lymphangioleiomyomatosis
c.1599+8C>A Multiple submitters tuberous sclerosis 2
c.1599+9C>T Multiple submitters tuberous sclerosis 2
c.1716+15C>T Multiple submitters tuberous sclerosis 2
c.1717-12CT[3] Multiple submitters hereditary neoplastic syndrome
c.1717-14T>C Multiple submitters lymphangioleiomyomatosis
c.1717-15G>A Multiple submitters tuberous sclerosis
c.1717-15G>T Multiple submitters tuberous sclerosis
c.1717-16C>T Multiple submitters lymphangioleiomyomatosis
c.1717-30G>A Multiple submitters tuberous sclerosis
c.1717-6C>T Multiple submitters tuberous sclerosis 2
c.1839+10C>T Multiple submitters tuberous sclerosis 2
c.1839+20G>A Multiple submitters tuberous sclerosis 2
c.1839+20G>C Multiple submitters tuberous sclerosis 2
c.1840-11C>G Multiple submitters tuberous sclerosis
c.1840-14C>T Multiple submitters tuberous sclerosis
c.1946+14C>T Multiple submitters tuberous sclerosis 2
c.1946+20C>T Multiple submitters tuberous sclerosis 2
c.1946+6C>T Multiple submitters tuberous sclerosis 2
c.1946+7G>A Multiple submitters tuberous sclerosis 2
c.1947-3C>T Multiple submitters tuberous sclerosis 2
c.1947-4G>A Multiple submitters hereditary neoplastic syndrome
c.1947-9C>T Multiple submitters tuberous sclerosis
c.2097+10del Multiple submitters tuberous sclerosis 2
c.2097+13G>A Multiple submitters tuberous sclerosis 2
c.2097+43A>G Multiple submitters tuberous sclerosis
c.2098-13C>T Multiple submitters tuberous sclerosis
c.2098-6T>C Multiple submitters tuberous sclerosis 2
c.2098-9T>C Multiple submitters tuberous sclerosis
c.2220+11C>T Multiple submitters tuberous sclerosis 2
c.2220+20del Multiple submitters tuberous sclerosis 2
c.2221-19G>A Multiple submitters tuberous sclerosis 2
c.2221-8G>C Multiple submitters tuberous sclerosis 2
c.2356-4G>A Multiple submitters tuberous sclerosis
c.2545+244C>G Multiple submitters tuberous sclerosis 2
c.2545+26G>A Multiple submitters tuberous sclerosis 2
c.2545+31C>T Multiple submitters tuberous sclerosis 2
c.2545+9C>G Multiple submitters tuberous sclerosis 2
c.2546-10A>G Multiple submitters tuberous sclerosis
c.2546-31G>A Multiple submitters tuberous sclerosis 2
c.2546-4G>A Multiple submitters hereditary neoplastic syndrome
c.2546-5C>G Multiple submitters hereditary neoplastic syndrome
c.2546-5C>T Multiple submitters hereditary neoplastic syndrome
c.2546-6C>T Multiple submitters hereditary neoplastic syndrome
c.2640-13C>T Multiple submitters hereditary neoplastic syndrome
c.2742+13C>T Multiple submitters lymphangioleiomyomatosis
c.2743-10A>G Multiple submitters tuberous sclerosis 2
c.2743-11C>T Multiple submitters tuberous sclerosis 2
c.2743-19G>A Multiple submitters tuberous sclerosis 2
c.2743-3C>A Multiple submitters hereditary neoplastic syndrome
c.2743-40A>G Multiple submitters tuberous sclerosis
c.2743-7C>G Multiple submitters hereditary neoplastic syndrome
c.2743-9C>T Multiple submitters hereditary neoplastic syndrome
c.2837+11dup Multiple submitters lymphangioleiomyomatosis
c.2838-13C>T Multiple submitters tuberous sclerosis 2
c.2838-4A>G Multiple submitters lymphangioleiomyomatosis
c.2966+19G>T Multiple submitters tuberous sclerosis 2
c.2966+20G>T Multiple submitters tuberous sclerosis 2
c.2967-13C>T Multiple submitters tuberous sclerosis 2
c.2967-16C>T Multiple submitters tuberous sclerosis 2
c.2967-6C>T Multiple submitters tuberous sclerosis 2
c.3131+8C>T Multiple submitters tuberous sclerosis 2
c.3132-15C>T Multiple submitters tuberous sclerosis 2
c.3132-16G>A Multiple submitters tuberous sclerosis 2
c.3285-19C>T Multiple submitters tuberous sclerosis 2
c.336+10A>G Multiple submitters isolated focal cortical dysplasia type II
c.336+33G>T Multiple submitters tuberous sclerosis 2
c.336+8C>T Multiple submitters tuberous sclerosis 2
c.337-3T>C Multiple submitters tuberous sclerosis
c.3398-19C>T Multiple submitters tuberous sclerosis 2
c.3398-9C>T Multiple submitters tuberous sclerosis 2
c.3610+9C>T Multiple submitters lymphangioleiomyomatosis
c.3611-10G>A Multiple submitters hereditary neoplastic syndrome
c.3611-11C>T Multiple submitters hereditary neoplastic syndrome
c.3611-4G>A Multiple submitters tuberous sclerosis 2
c.3611-5C>T Multiple submitters tuberous sclerosis
c.3814+10A>G Multiple submitters lymphangioleiomyomatosis
c.3814+7G>A Multiple submitters tuberous sclerosis 2
c.3814+9C>A Multiple submitters tuberous sclerosis 2
c.3815-15G>A Multiple submitters tuberous sclerosis
c.3815-16C>T Multiple submitters tuberous sclerosis 2
c.3815-20C>T Multiple submitters tuberous sclerosis 2
c.3815-21G>A Multiple submitters hereditary neoplastic syndrome
c.3883+15_3883+16del Multiple submitters hereditary neoplastic syndrome
c.3883+8C>G Multiple submitters lymphangioleiomyomatosis
c.3884-16G>A Multiple submitters tuberous sclerosis 2
c.4005+7G>A Multiple submitters tuberous sclerosis 2
c.4006-4C>G Multiple submitters tuberous sclerosis 2
c.4006-8C>T Multiple submitters lymphangioleiomyomatosis
c.4493+16_4493+17delinsGT Multiple submitters lymphangioleiomyomatosis
c.4493+16C>G Multiple submitters lymphangioleiomyomatosis
c.4493+17C>T Multiple submitters lymphangioleiomyomatosis
c.4493+18G>A Multiple submitters tuberous sclerosis 2
c.4494-12dup Multiple submitters tuberous sclerosis 2
c.4569+46C>T Multiple submitters tuberous sclerosis 2
c.4569+4G>A Multiple submitters hereditary neoplastic syndrome
c.4662+10C>T Multiple submitters tuberous sclerosis 2
c.4662+17G>A Multiple submitters lymphangioleiomyomatosis
c.4662+18G>A Multiple submitters tuberous sclerosis 2
c.4663-12dup Multiple submitters tuberous sclerosis 2
c.4663-16_4663-15del Multiple submitters tuberous sclerosis 2
c.4663-3C>T Multiple submitters hereditary neoplastic syndrome
c.4663-7C>T Multiple submitters tuberous sclerosis
c.481+8C>T Multiple submitters tuberous sclerosis 2
c.481+9C>T Multiple submitters tuberous sclerosis 2
c.482-14C>T Multiple submitters tuberous sclerosis 2
c.482-16G>A Multiple submitters tuberous sclerosis 2
c.482-20T>A Multiple submitters tuberous sclerosis 2
c.482-3C>T Multiple submitters hereditary neoplastic syndrome
c.482-4C>T Multiple submitters tuberous sclerosis 2
c.4849+13G>A Multiple submitters tuberous sclerosis 2
c.4849+4C>T Multiple submitters hereditary neoplastic syndrome
c.4850-12G>A Multiple submitters tuberous sclerosis 2
c.4850-19C>T Multiple submitters tuberous sclerosis 2
c.4850-8A>G Multiple submitters tuberous sclerosis
c.4850-9C>T Multiple submitters tuberous sclerosis 2
c.4989+15G>A Multiple submitters tuberous sclerosis 2
c.4989+20T>A Multiple submitters tuberous sclerosis 2
c.4990-11T>C Multiple submitters tuberous sclerosis
c.4990-3C>T Multiple submitters hereditary neoplastic syndrome
c.4990-5G>T Multiple submitters hereditary neoplastic syndrome
c.4990-7C>G Multiple submitters tuberous sclerosis
c.4990-7C>T Multiple submitters tuberous sclerosis
c.5068+27_5069-47del Multiple submitters hereditary neoplastic syndrome
c.5068+27_5069-47dup34 Multiple submitters lymphangioleiomyomatosis
c.5069-13C>T Multiple submitters hereditary neoplastic syndrome
c.5069-14_5069-12del Multiple submitters tuberous sclerosis
c.5069-8C>T Multiple submitters tuberous sclerosis
c.5160+7G>C Multiple submitters tuberous sclerosis 2
c.5161-10A>C Multiple submitters lymphangioleiomyomatosis
c.5161-20C>T Multiple submitters tuberous sclerosis 2
c.5161-4C>G Multiple submitters tuberous sclerosis
c.5161-8G>A Multiple submitters tuberous sclerosis 2
c.5161-8G>C Multiple submitters tuberous sclerosis
c.5259+25C>T Multiple submitters polycystic kidney disease 1
c.5259+9T>C Multiple submitters isolated focal cortical dysplasia type II
c.5260-12C>T Multiple submitters tuberous sclerosis 2
c.5260-14G>A Multiple submitters tuberous sclerosis 2
c.5260-15C>T Multiple submitters tuberous sclerosis
c.5260-9T>C Multiple submitters tuberous sclerosis 2
c.599+10G>C Multiple submitters tuberous sclerosis 2
c.599+17G>C Multiple submitters tuberous sclerosis 2
c.600-15C>T Multiple submitters lymphangioleiomyomatosis
c.600-18G>A Multiple submitters tuberous sclerosis 2
c.648+9C>T Multiple submitters tuberous sclerosis 2
c.649-17G>A Multiple submitters tuberous sclerosis 2
c.649-18C>T Multiple submitters tuberous sclerosis 2
c.649-20G>A Multiple submitters tuberous sclerosis 2
c.649-8T>C Multiple submitters tuberous sclerosis 2
c.649-9C>G Multiple submitters tuberous sclerosis 2
c.775-12T>C Multiple submitters tuberous sclerosis
c.775-17C>T Multiple submitters tuberous sclerosis 2
c.775-4G>A Multiple submitters lymphangioleiomyomatosis
c.848+276C>G Multiple submitters
c.848+7G>A Multiple submitters hereditary neoplastic syndrome
c.975+13C>T Multiple submitters hereditary neoplastic syndrome
c.975+15G>A Multiple submitters lymphangioleiomyomatosis
c.976-16C>T Multiple submitters lymphangioleiomyomatosis
c.976-3C>T Multiple submitters hereditary neoplastic syndrome
c.-29-10G>C Multiple submitters tuberous sclerosis
c.*1G>C Multiple submitters tuberous sclerosis 2
c.*35G>A Multiple submitters tuberous sclerosis
c.*4C>G Multiple submitters tuberous sclerosis
c.*71C>T Multiple submitters tuberous sclerosis
p.Ala100= Multiple submitters tuberous sclerosis 2
p.Ala1009= Multiple submitters tuberous sclerosis 2
p.Ala107= Multiple submitters hereditary neoplastic syndrome
p.Ala1108= Multiple submitters hereditary neoplastic syndrome
p.Ala1141Thr Multiple submitters hereditary neoplastic syndrome
p.Ala1141Val Multiple submitters hereditary neoplastic syndrome
p.Ala1153= Multiple submitters tuberous sclerosis
p.Ala1163= Multiple submitters hereditary neoplastic syndrome
p.Ala1164Ser Multiple submitters hereditary neoplastic syndrome
p.Ala1164Thr Multiple submitters hereditary neoplastic syndrome
p.Ala1184= Multiple submitters tuberous sclerosis
p.Ala1185= Multiple submitters tuberous sclerosis
p.Ala1195= Multiple submitters hereditary neoplastic syndrome
p.Ala1234= Multiple submitters hereditary neoplastic syndrome
p.Ala1237= Multiple submitters tuberous sclerosis 2
p.Ala1257Val Multiple submitters lymphangioleiomyomatosis
p.Ala1261= Multiple submitters hereditary neoplastic syndrome
p.Ala1297= Multiple submitters hereditary neoplastic syndrome
p.Ala1323Val Multiple submitters hereditary neoplastic syndrome
p.Ala1332= Multiple submitters hereditary neoplastic syndrome
p.Ala1349= Multiple submitters hereditary neoplastic syndrome
p.Ala1349Thr Multiple submitters hereditary neoplastic syndrome
p.Ala1405= Multiple submitters hereditary neoplastic syndrome
p.Ala1416= Multiple submitters hereditary neoplastic syndrome
p.Ala1429= Multiple submitters hereditary neoplastic syndrome
p.Ala145= Multiple submitters hereditary neoplastic syndrome
p.Ala145Thr Multiple submitters tuberous sclerosis
p.Ala1479= Multiple submitters hereditary neoplastic syndrome
p.Ala1479Val Multiple submitters hereditary neoplastic syndrome
p.Ala1484= Multiple submitters hereditary neoplastic syndrome
p.Ala1486= Multiple submitters hereditary neoplastic syndrome
p.Ala1489= Multiple submitters hereditary neoplastic syndrome
p.Ala1560= Multiple submitters hereditary neoplastic syndrome
p.Ala1622= Multiple submitters hereditary neoplastic syndrome
p.Ala1716= Multiple submitters hereditary neoplastic syndrome
p.Ala1742= Multiple submitters hereditary neoplastic syndrome
p.Ala1759= Multiple submitters hereditary neoplastic syndrome
p.Ala1759Thr Multiple submitters hereditary neoplastic syndrome
p.Ala1778= Multiple submitters hereditary neoplastic syndrome
p.Ala196= Multiple submitters tuberous sclerosis 2
p.Ala196Thr Multiple submitters hereditary neoplastic syndrome
p.Ala210= Multiple submitters tuberous sclerosis 2
p.Ala210Thr Multiple submitters lymphangioleiomyomatosis
p.Ala272Thr Multiple submitters tuberous sclerosis 2
p.Ala295= Multiple submitters hereditary neoplastic syndrome
p.Ala31= Multiple submitters tuberous sclerosis 2
p.Ala328= Multiple submitters tuberous sclerosis 2
p.Ala42= Multiple submitters hereditary neoplastic syndrome
p.Ala431= Multiple submitters hereditary neoplastic syndrome
p.Ala431Val Multiple submitters hereditary neoplastic syndrome
p.Ala447= Multiple submitters tuberous sclerosis 2
p.Ala460Thr Multiple submitters lymphangioleiomyomatosis
p.Ala516= Multiple submitters tuberous sclerosis 2
p.Ala555= Multiple submitters tuberous sclerosis 2
p.Ala583Thr Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala607= Multiple submitters lymphangioleiomyomatosis
p.Ala607Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala623= Multiple submitters lymphangioleiomyomatosis
p.Ala673Val Multiple submitters hereditary neoplastic syndrome
p.Ala675= Multiple submitters hereditary neoplastic syndrome
p.Ala678= Multiple submitters hereditary neoplastic syndrome
p.Ala68= Multiple submitters hereditary neoplastic syndrome
p.Ala736= Multiple submitters tuberous sclerosis 2
p.Ala736Val Multiple submitters tuberous sclerosis 2
p.Ala77= Multiple submitters tuberous sclerosis 2
p.Ala835= Multiple submitters tuberous sclerosis 2
p.Ala837= Multiple submitters hereditary neoplastic syndrome
p.Ala840= Multiple submitters hereditary neoplastic syndrome
p.Ala866= Multiple submitters hereditary neoplastic syndrome
p.Ala870= Multiple submitters hereditary neoplastic syndrome
p.Ala894= Multiple submitters hereditary neoplastic syndrome
p.Ala97= Multiple submitters tuberous sclerosis 2
p.Ala972= Multiple submitters tuberous sclerosis 2
p.Arg1103= Multiple submitters tuberous sclerosis 2
p.Arg1122Cys Multiple submitters hereditary neoplastic syndrome
p.Arg1129= Multiple submitters tuberous sclerosis 2
p.Arg1138Gln Multiple submitters hereditary neoplastic syndrome
p.Arg1159Trp Multiple submitters lymphangioleiomyomatosis
p.Arg1174Trp Multiple submitters hereditary neoplastic syndrome
p.Arg1268= Multiple submitters tuberous sclerosis 2
p.Arg1268His Multiple submitters hereditary neoplastic syndrome
p.Arg1329His Multiple submitters lymphangioleiomyomatosis
p.Arg1355= Multiple submitters hereditary neoplastic syndrome
p.Arg1369= Multiple submitters hereditary neoplastic syndrome
p.Arg1409= Multiple submitters hereditary neoplastic syndrome
p.Arg1417= Multiple submitters hereditary neoplastic syndrome
p.Arg1459= Multiple submitters hereditary neoplastic syndrome
p.Arg1470= Multiple submitters hereditary neoplastic syndrome
p.Arg1477= Multiple submitters hereditary neoplastic syndrome
p.Arg151= Multiple submitters hereditary neoplastic syndrome
p.Arg1529= Multiple submitters hereditary neoplastic syndrome
p.Arg1570= Multiple submitters hereditary neoplastic syndrome
p.Arg1729= Multiple submitters tuberous sclerosis 2
p.Arg1749= Multiple submitters hereditary neoplastic syndrome
p.Arg1793= Multiple submitters hereditary neoplastic syndrome
p.Arg1793Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1795Cys Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Arg208Gln Multiple submitters hereditary neoplastic syndrome
p.Arg245= Multiple submitters hereditary neoplastic syndrome
p.Arg25= Multiple submitters tuberous sclerosis 2
p.Arg261Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg29= Multiple submitters hereditary neoplastic syndrome
p.Arg308= Multiple submitters hereditary neoplastic syndrome
p.Arg350= Multiple submitters tuberous sclerosis 2
p.Arg367= Multiple submitters tuberous sclerosis
p.Arg381= Multiple submitters hereditary neoplastic syndrome
p.Arg462= Multiple submitters tuberous sclerosis 2
p.Arg477= Multiple submitters tuberous sclerosis 2
p.Arg537Cys Multiple submitters hereditary neoplastic syndrome
p.Arg611= Multiple submitters hereditary neoplastic syndrome
p.Arg622= Multiple submitters tuberous sclerosis 2
p.Arg628= Multiple submitters hereditary neoplastic syndrome
p.Arg691= Multiple submitters lymphangioleiomyomatosis
p.Arg712= Multiple submitters tuberous sclerosis 2
p.Arg718= Multiple submitters hereditary neoplastic syndrome
p.Arg799= Multiple submitters tuberous sclerosis

Likely benign 2257

Showing the top 300 by review status; the full set is in the sitemap.

c.1119+11G>C Multiple submitters lymphangioleiomyomatosis
c.1119+8G>T Multiple submitters tuberous sclerosis 2
c.1120-11T>C Multiple submitters tuberous sclerosis 2
c.1120-14G>T Multiple submitters tuberous sclerosis 2
c.1120-15T>C Multiple submitters tuberous sclerosis 2
c.1120-20C>T Multiple submitters tuberous sclerosis 2
c.1120-5dup Multiple submitters tuberous sclerosis 2
c.1120-6C>T Multiple submitters tuberous sclerosis 2
c.1257+10C>T Multiple submitters tuberous sclerosis 2
c.1257+17G>T Multiple submitters tuberous sclerosis 2
c.1257+8C>T Multiple submitters tuberous sclerosis 2
c.1257+9C>T Multiple submitters tuberous sclerosis 2
c.1258-10C>T Multiple submitters tuberous sclerosis 2
c.1258-15C>T Multiple submitters tuberous sclerosis 2
c.1258-16G>T Multiple submitters tuberous sclerosis 2
c.1258-17G>A Multiple submitters tuberous sclerosis 2
c.1258-17G>C Multiple submitters tuberous sclerosis 2
c.1258-18C>T Multiple submitters tuberous sclerosis 2
c.1258-19C>T Multiple submitters tuberous sclerosis 2
c.1258-4A>G Multiple submitters hereditary neoplastic syndrome
c.1258-7T>C Multiple submitters tuberous sclerosis 2
c.1258-9T>G Multiple submitters tuberous sclerosis 2
c.1361+10C>T Multiple submitters tuberous sclerosis 2
c.1361+7G>T Multiple submitters tuberous sclerosis 2
c.1361+8G>A Multiple submitters tuberous sclerosis 2
c.1362-15G>C Multiple submitters tuberous sclerosis 2
c.1362-20A>G Multiple submitters tuberous sclerosis 2
c.1362-32C>G Multiple submitters tuberous sclerosis 2
c.1362-4G>T Multiple submitters hereditary neoplastic syndrome
c.1362-7C>T Multiple submitters tuberous sclerosis 2
c.138+14C>T Multiple submitters tuberous sclerosis 2
c.138+16G>A Multiple submitters tuberous sclerosis 2
c.138+18G>A Multiple submitters isolated focal cortical dysplasia type II
c.139-10C>T Multiple submitters tuberous sclerosis 2
c.139-12A>G Multiple submitters tuberous sclerosis 2
c.139-17_139-15del Multiple submitters tuberous sclerosis 2
c.139-17C>T Multiple submitters tuberous sclerosis 2
c.139-20C>T Multiple submitters tuberous sclerosis 2
c.139-4C>G Multiple submitters hereditary neoplastic syndrome
c.139-4C>T Multiple submitters hereditary neoplastic syndrome
c.139-8C>G Multiple submitters tuberous sclerosis 2
c.139-8C>T Multiple submitters tuberous sclerosis
c.1443+10C>T Multiple submitters tuberous sclerosis 2
c.1443+14C>A Multiple submitters tuberous sclerosis 2
c.1443+14C>T Multiple submitters tuberous sclerosis 2
c.1443+19G>A Multiple submitters tuberous sclerosis 2
c.1443+7G>A Multiple submitters tuberous sclerosis 2
c.1443+8T>A Multiple submitters tuberous sclerosis 2
c.1443+9C>G Multiple submitters tuberous sclerosis 2
c.1444-100A>G Multiple submitters
c.1444-12G>A Multiple submitters tuberous sclerosis 2
c.1444-13T>C Multiple submitters tuberous sclerosis 2
c.1444-14T>C Multiple submitters tuberous sclerosis
c.1444-15C>T Multiple submitters tuberous sclerosis 2
c.1444-17C>T Multiple submitters tuberous sclerosis 2
c.1444-19C>T Multiple submitters tuberous sclerosis 2
c.1444-7T>C Multiple submitters tuberous sclerosis 2
c.1444-8C>T Multiple submitters tuberous sclerosis
c.1444-9C>T Multiple submitters tuberous sclerosis 2
c.1599+16C>A Multiple submitters lymphangioleiomyomatosis
c.1599+16C>T Multiple submitters tuberous sclerosis 2
c.1599+18C>T Multiple submitters tuberous sclerosis 2
c.1599+7G>A Multiple submitters tuberous sclerosis 2
c.1599+8C>T Multiple submitters tuberous sclerosis 2
c.1600-19C>T Multiple submitters tuberous sclerosis 2
c.1600-4A>C Multiple submitters hereditary neoplastic syndrome
c.1600-5C>G Multiple submitters tuberous sclerosis 2
c.1600-64T>G Multiple submitters
c.1600-8C>T Multiple submitters tuberous sclerosis
c.1716+10C>G Multiple submitters tuberous sclerosis 2
c.1716+10C>T Multiple submitters tuberous sclerosis 2
c.1716+16G>A Multiple submitters tuberous sclerosis 2
c.1716+20C>T Multiple submitters tuberous sclerosis 2
c.1716+7G>A Multiple submitters tuberous sclerosis 2
c.1716+9T>G Multiple submitters tuberous sclerosis 2
c.1717-10C>T Multiple submitters tuberous sclerosis
c.1717-12C>T Multiple submitters tuberous sclerosis 2
c.1717-13C>T Multiple submitters tuberous sclerosis 2
c.1717-19C>T Multiple submitters tuberous sclerosis 2
c.1717-20G>A Multiple submitters tuberous sclerosis 2
c.1717-20G>T Multiple submitters lymphangioleiomyomatosis
c.1717-4G>A Multiple submitters tuberous sclerosis 2
c.1717-67A>G Multiple submitters
c.1839+7T>C Multiple submitters tuberous sclerosis 2
c.1839+8G>A Multiple submitters tuberous sclerosis 2
c.1839+9del Multiple submitters tuberous sclerosis 2
c.1840-11C>T Multiple submitters tuberous sclerosis
c.1840-12T>C Multiple submitters tuberous sclerosis
c.1840-13C>G Multiple submitters tuberous sclerosis
c.1840-13C>T Multiple submitters tuberous sclerosis
c.1840-16A>G Multiple submitters tuberous sclerosis 2
c.1840-17C>T Multiple submitters tuberous sclerosis 2
c.1840-20C>T Multiple submitters tuberous sclerosis 2
c.1840-4A>C Multiple submitters hereditary neoplastic syndrome
c.1840-6T>G Multiple submitters tuberous sclerosis
c.1840-7C>T Multiple submitters tuberous sclerosis 2
c.1840-7del Multiple submitters tuberous sclerosis 2
c.1840-8C>T Multiple submitters tuberous sclerosis 2
c.1946+11C>G Multiple submitters tuberous sclerosis 2
c.1946+15G>A Multiple submitters tuberous sclerosis
c.1946+7G>C Multiple submitters tuberous sclerosis 2
c.1946+7G>T Multiple submitters tuberous sclerosis 2
c.1947-10G>A Multiple submitters tuberous sclerosis 2
c.1947-13C>T Multiple submitters tuberous sclerosis 2
c.1947-15C>T Multiple submitters tuberous sclerosis 2
c.1947-19G>C Multiple submitters tuberous sclerosis 2
c.1947-4G>C Multiple submitters hereditary neoplastic syndrome
c.1947-4G>T Multiple submitters hereditary neoplastic syndrome
c.2097+7G>A Multiple submitters tuberous sclerosis 2
c.2097+7G>C Multiple submitters tuberous sclerosis 2
c.2098-12C>G Multiple submitters tuberous sclerosis 2
c.2098-12C>T Multiple submitters tuberous sclerosis 2
c.2098-12del Multiple submitters tuberous sclerosis 2
c.2098-15C>A Multiple submitters tuberous sclerosis 2
c.2098-15C>G Multiple submitters tuberous sclerosis 2
c.2098-15C>T Multiple submitters tuberous sclerosis 2
c.2098-16C>A Multiple submitters hereditary neoplastic syndrome
c.2098-16C>T Multiple submitters tuberous sclerosis 2
c.2098-17G>A Multiple submitters tuberous sclerosis 2
c.2098-17G>T Multiple submitters tuberous sclerosis 2
c.2098-18C>T Multiple submitters tuberous sclerosis 2
c.2098-4G>A Multiple submitters hereditary neoplastic syndrome
c.2098-7C>T Multiple submitters tuberous sclerosis 2
c.2098-8C>T Multiple submitters tuberous sclerosis 2
c.2220+12G>A Multiple submitters isolated focal cortical dysplasia type II
c.2220+12G>T Multiple submitters isolated focal cortical dysplasia type II
c.2220+7T>C Multiple submitters tuberous sclerosis 2
c.2220+9G>A Multiple submitters tuberous sclerosis 2
c.2221-10dup Multiple submitters tuberous sclerosis 2
c.2221-14G>T Multiple submitters tuberous sclerosis
c.2221-16T>C Multiple submitters tuberous sclerosis 2
c.2221-20T>C Multiple submitters tuberous sclerosis 2
c.225+12C>A Multiple submitters tuberous sclerosis 2
c.225+19G>A Multiple submitters tuberous sclerosis 2
c.225+5G>T Multiple submitters hereditary neoplastic syndrome
c.225+7T>C Multiple submitters tuberous sclerosis 2
c.226-15C>T Multiple submitters tuberous sclerosis 2
c.226-17C>T Multiple submitters tuberous sclerosis 2
c.226-18C>T Multiple submitters tuberous sclerosis 2
c.226-20G>A Multiple submitters tuberous sclerosis 2
c.226-7G>C Multiple submitters tuberous sclerosis 2
c.226-82C>T Multiple submitters
c.2355+20C>T Multiple submitters tuberous sclerosis 2
c.2355+7G>A Multiple submitters tuberous sclerosis 2
c.2356-11G>C Multiple submitters tuberous sclerosis 2
c.2356-14C>T Multiple submitters tuberous sclerosis 2
c.2356-6C>T Multiple submitters tuberous sclerosis 2
c.2356-7C>T Multiple submitters tuberous sclerosis 2
c.2356-9C>G Multiple submitters tuberous sclerosis 2
c.2545+10C>T Multiple submitters tuberous sclerosis 2
c.2545+11G>A Multiple submitters tuberous sclerosis 2
c.2545+135C>T Multiple submitters
c.2545+18C>T Multiple submitters tuberous sclerosis 2
c.2545+9C>T Multiple submitters tuberous sclerosis 2
c.2546-13dup Multiple submitters tuberous sclerosis 2
c.2546-15T>C Multiple submitters tuberous sclerosis
c.2546-16C>T Multiple submitters tuberous sclerosis 2
c.2546-17_2546-16dup Multiple submitters tuberous sclerosis 2
c.2546-17C>T Multiple submitters tuberous sclerosis 2
c.2546-4G>T Multiple submitters tuberous sclerosis 2
c.2639+11G>A Multiple submitters tuberous sclerosis 2
c.2639+12C>T Multiple submitters tuberous sclerosis 2
c.2639+14C>G Multiple submitters tuberous sclerosis 2
c.2639+8G>C Multiple submitters tuberous sclerosis 2
c.2640-10C>T Multiple submitters tuberous sclerosis 2
c.2640-14C>G Multiple submitters tuberous sclerosis 2
c.2640-14C>T Multiple submitters tuberous sclerosis 2
c.2640-16C>T Multiple submitters tuberous sclerosis 2
c.2640-20_2640-19insT Multiple submitters tuberous sclerosis 2
c.2640-26G>T Multiple submitters tuberous sclerosis
c.2640-5C>T Multiple submitters hereditary neoplastic syndrome
c.2640-8C>T Multiple submitters tuberous sclerosis 2
c.2742+10G>A Multiple submitters tuberous sclerosis 2
c.2742+11G>A Multiple submitters tuberous sclerosis 2
c.2742+14C>T Multiple submitters tuberous sclerosis 2
c.2742+15G>A Multiple submitters tuberous sclerosis 2
c.2742+20A>C Multiple submitters tuberous sclerosis 2
c.2742+7T>C Multiple submitters tuberous sclerosis 2
c.2743-15T>C Multiple submitters tuberous sclerosis 2
c.2743-16G>A Multiple submitters tuberous sclerosis 2
c.2743-18G>A Multiple submitters tuberous sclerosis 2
c.2743-18G>T Multiple submitters tuberous sclerosis 2
c.2743-4C>T Multiple submitters hereditary neoplastic syndrome
c.2743-8T>C Multiple submitters tuberous sclerosis 2
c.2837+10G>A Multiple submitters tuberous sclerosis 2
c.2837+11C>T Multiple submitters tuberous sclerosis 2
c.2837+12G>A Multiple submitters isolated focal cortical dysplasia type II
c.2837+5G>A Multiple submitters hereditary neoplastic syndrome
c.2837+7C>G Multiple submitters tuberous sclerosis 2
c.2837+7C>T Multiple submitters tuberous sclerosis 2
c.2837+8C>G Multiple submitters tuberous sclerosis 2
c.2837+8C>T Multiple submitters tuberous sclerosis 2
c.2837+9T>C Multiple submitters tuberous sclerosis 2
c.2837+9T>G Multiple submitters tuberous sclerosis 2
c.2838-11T>C Multiple submitters tuberous sclerosis 2
c.2838-123C>T Multiple submitters tuberous sclerosis
c.2838-12C>T Multiple submitters tuberous sclerosis 2
c.2838-14T>C Multiple submitters tuberous sclerosis 2
c.2838-16C>T Multiple submitters tuberous sclerosis 2
c.2838-17C>T Multiple submitters tuberous sclerosis 2
c.2838-19C>T Multiple submitters tuberous sclerosis 2
c.2838-5G>A Multiple submitters hereditary neoplastic syndrome
c.2838-7C>A Multiple submitters tuberous sclerosis
c.2838-8C>T Multiple submitters tuberous sclerosis 2
c.2966+8G>C Multiple submitters tuberous sclerosis 2
c.2967-10C>T Multiple submitters tuberous sclerosis
c.2967-12C>T Multiple submitters tuberous sclerosis 2
c.2967-14G>C Multiple submitters tuberous sclerosis
c.2967-15G>C Multiple submitters tuberous sclerosis
c.2967-8C>T Multiple submitters tuberous sclerosis
c.3131+17A>G Multiple submitters tuberous sclerosis 2
c.3131+7G>A Multiple submitters tuberous sclerosis 2
c.3131+9G>A Multiple submitters tuberous sclerosis 2
c.3132-11C>T Multiple submitters tuberous sclerosis 2
c.3132-12C>T Multiple submitters tuberous sclerosis 2
c.3132-13C>G Multiple submitters tuberous sclerosis
c.3132-14T>A Multiple submitters tuberous sclerosis 2
c.3132-17C>T Multiple submitters tuberous sclerosis 2
c.3132-18A>C Multiple submitters tuberous sclerosis 2
c.3132-19C>T Multiple submitters tuberous sclerosis 2
c.3132-30A>G Multiple submitters tuberous sclerosis
c.3132-4C>G Multiple submitters tuberous sclerosis 2
c.3132-4C>T Multiple submitters hereditary neoplastic syndrome
c.3284+10C>T Multiple submitters tuberous sclerosis 2
c.3284+11C>A Multiple submitters tuberous sclerosis 2
c.3284+20C>T Multiple submitters tuberous sclerosis 2
c.3284+7G>T Multiple submitters tuberous sclerosis 2
c.3284+8C>T Multiple submitters tuberous sclerosis 2
c.3285-10C>G Multiple submitters tuberous sclerosis 2
c.3285-18G>A Multiple submitters tuberous sclerosis 2
c.3285-4T>G Multiple submitters hereditary neoplastic syndrome
c.3285-8C>T Multiple submitters tuberous sclerosis 2
c.336+14C>G Multiple submitters tuberous sclerosis 2
c.336+61C>T Multiple submitters tuberous sclerosis
c.337-16_337-15delinsCC Multiple submitters tuberous sclerosis
c.337-16T>C Multiple submitters tuberous sclerosis 2
c.337-17G>A Multiple submitters tuberous sclerosis 2
c.337-18T>C Multiple submitters tuberous sclerosis 2
c.3397+3G>A Multiple submitters hereditary neoplastic syndrome
c.3397+7C>T Multiple submitters tuberous sclerosis 2
c.3397+8T>C Multiple submitters tuberous sclerosis 2
c.3398-11C>T Multiple submitters tuberous sclerosis 2
c.3398-12C>T Multiple submitters tuberous sclerosis 2
c.3398-14G>A Multiple submitters tuberous sclerosis 2
c.3398-14G>C Multiple submitters tuberous sclerosis 2
c.3398-16_3398-15del Multiple submitters tuberous sclerosis 2
c.3398-16C>T Multiple submitters tuberous sclerosis 2
c.3398-18C>T Multiple submitters tuberous sclerosis 2
c.3398-6C>T Multiple submitters tuberous sclerosis
c.3610+10_3610+14dup Multiple submitters tuberous sclerosis
c.3610+9C>A Multiple submitters tuberous sclerosis 2
c.3611-12C>T Multiple submitters tuberous sclerosis 2
c.3611-13G>A Multiple submitters tuberous sclerosis 2
c.3611-14T>C Multiple submitters tuberous sclerosis 2
c.3611-16G>A Multiple submitters tuberous sclerosis 2
c.3611-17T>C Multiple submitters tuberous sclerosis 2
c.3611-4G>T Multiple submitters hereditary neoplastic syndrome
c.3611-6C>T Multiple submitters tuberous sclerosis 2
c.3611-7T>C Multiple submitters tuberous sclerosis 2
c.3611-8C>T Multiple submitters tuberous sclerosis 2
c.3814+15G>A Multiple submitters tuberous sclerosis 2
c.3814+8G>A Multiple submitters tuberous sclerosis 2
c.3814+9C>T Multiple submitters tuberous sclerosis 2
c.3815-14G>A Multiple submitters tuberous sclerosis
c.3815-155A>G Multiple submitters
c.3815-18C>A Multiple submitters tuberous sclerosis 2
c.3815-5T>C Multiple submitters tuberous sclerosis 2
c.3883+78G>A Multiple submitters tuberous sclerosis
c.3883+8C>T Multiple submitters tuberous sclerosis 2
c.3883+9T>C Multiple submitters tuberous sclerosis 2
c.3884-10G>A Multiple submitters tuberous sclerosis 2
c.3884-12G>A Multiple submitters tuberous sclerosis
c.3884-17C>T Multiple submitters tuberous sclerosis 2
c.3884-18C>T Multiple submitters tuberous sclerosis 2
c.3884-19C>T Multiple submitters tuberous sclerosis 2
c.3884-4C>G Multiple submitters hereditary neoplastic syndrome
c.3884-6_3884-5del Multiple submitters tuberous sclerosis
c.3884-7C>T Multiple submitters tuberous sclerosis 2
c.3884-8C>T Multiple submitters tuberous sclerosis 2
c.4005+10G>A Multiple submitters tuberous sclerosis 2
c.4005+8_4005+9del Multiple submitters tuberous sclerosis 2
c.4006-14A>C Multiple submitters tuberous sclerosis 2
c.4006-14A>G Multiple submitters tuberous sclerosis 2
c.4006-15del Multiple submitters tuberous sclerosis 2
c.4006-19T>G Multiple submitters tuberous sclerosis 2
c.4006-4C>T Multiple submitters hereditary neoplastic syndrome
c.4006-7T>C Multiple submitters tuberous sclerosis 2
c.4493+10T>C Multiple submitters tuberous sclerosis 2
c.4493+4G>A Multiple submitters tuberous sclerosis 2
c.4493+8T>A Multiple submitters tuberous sclerosis 2
c.4494-10C>T Multiple submitters tuberous sclerosis 2
c.4494-11dup Multiple submitters tuberous sclerosis 2
c.4494-12C>T Multiple submitters tuberous sclerosis
c.4494-13C>T Multiple submitters tuberous sclerosis 2
c.4494-15C>G Multiple submitters tuberous sclerosis 2
c.4494-15C>T Multiple submitters tuberous sclerosis
c.4494-18C>T Multiple submitters tuberous sclerosis 2
c.4494-19C>T Multiple submitters tuberous sclerosis 2
c.4494-20A>G Multiple submitters tuberous sclerosis 2
c.4494-7T>C Multiple submitters tuberous sclerosis 2

Uncertain significance 4278

Showing the top 300 by review status; the full set is in the sitemap.

c.1061_1119+22dup Multiple submitters hereditary neoplastic syndrome
c.1119+5G>C Multiple submitters hereditary neoplastic syndrome
c.1120-3C>T Multiple submitters hereditary neoplastic syndrome
c.1257+20G>A Multiple submitters tuberous sclerosis 2
c.1258-3C>T Multiple submitters hereditary neoplastic syndrome
c.1258-6T>A Multiple submitters isolated focal cortical dysplasia type II
c.1361+3A>G Multiple submitters tuberous sclerosis 2
c.1361+5G>A Multiple submitters hereditary neoplastic syndrome
c.1362-3C>T Multiple submitters hereditary neoplastic syndrome
c.138+4A>G Multiple submitters tuberous sclerosis 2
c.138+6_138+9del Multiple submitters tuberous sclerosis 2
c.1444-3C>T Multiple submitters hereditary neoplastic syndrome
c.1599+3G>A Multiple submitters hereditary neoplastic syndrome
c.1599+5G>C Multiple submitters hereditary neoplastic syndrome
c.1716+3G>A Multiple submitters hereditary neoplastic syndrome
c.1839+3A>G Multiple submitters hereditary neoplastic syndrome
c.1839+3A>T Multiple submitters hereditary neoplastic syndrome
c.1839+4dup Multiple submitters hereditary neoplastic syndrome
c.2097+2dup Multiple submitters hereditary neoplastic syndrome
c.2097+5G>A Multiple submitters hereditary neoplastic syndrome
c.2221-3C>G Multiple submitters hereditary neoplastic syndrome
c.225+2T>C Multiple submitters tuberous sclerosis 2
c.225+4G>C Multiple submitters tuberous sclerosis 2
c.2355+2dup Multiple submitters tuberous sclerosis 2
c.2355+3A>G Multiple submitters hereditary neoplastic syndrome
c.2355+4G>A Multiple submitters hereditary neoplastic syndrome
c.2356-3C>T Multiple submitters hereditary neoplastic syndrome
c.2545+6T>G Multiple submitters tuberous sclerosis 2
c.2639+2dup Multiple submitters tuberous sclerosis 2
c.2742+3G>C Multiple submitters hereditary neoplastic syndrome
c.2837+5G>T Multiple submitters hereditary neoplastic syndrome
c.2838-2A>C Multiple submitters hereditary neoplastic syndrome
c.2838-3T>G Multiple submitters tuberous sclerosis
c.2961_2966+3del Multiple submitters tuberous sclerosis 2
c.2966+1G>A Multiple submitters hereditary neoplastic syndrome
c.2966+4G>C Multiple submitters hereditary neoplastic syndrome
c.3132-8T>A Multiple submitters tuberous sclerosis 2
c.3284+3G>C Multiple submitters isolated focal cortical dysplasia type II
c.3284+4A>G Multiple submitters tuberous sclerosis 2
c.3284+5C>G Multiple submitters hereditary neoplastic syndrome
c.3285-12T>G Multiple submitters tuberous sclerosis
c.3398-3C>T Multiple submitters tuberous sclerosis 2
c.3610+3A>G Multiple submitters tuberous sclerosis 2
c.3610+4C>G Multiple submitters tuberous sclerosis 2
c.3611-5C>A Multiple submitters hereditary neoplastic syndrome
c.3815-21_3819del Multiple submitters tuberous sclerosis 2
c.3815-2A>G Multiple submitters tuberous sclerosis 2
c.3883+1G>A Multiple submitters tuberous sclerosis 2
c.3883+1G>T Multiple submitters tuberous sclerosis 2
c.3883+3A>G Multiple submitters hereditary neoplastic syndrome
c.3883+4T>C Multiple submitters hereditary neoplastic syndrome
c.4569+3A>G Multiple submitters tuberous sclerosis 2
c.4570-12T>A Multiple submitters tuberous sclerosis 2
c.4570-2A>G Multiple submitters isolated focal cortical dysplasia type II
c.4570-3_4570-2del Multiple submitters lymphangioleiomyomatosis
c.4662+5G>A Multiple submitters tuberous sclerosis 2
c.482-5C>G Multiple submitters tuberous sclerosis
c.482-6C>G Multiple submitters tuberous sclerosis
c.4849+2T>C Multiple submitters hereditary neoplastic syndrome
c.4849+3A>T Multiple submitters hereditary neoplastic syndrome
c.4849+5_4849+32del Multiple submitters tuberous sclerosis
c.4849+5G>C Multiple submitters tuberous sclerosis 2
c.4849+6_4849+27del Multiple submitters tuberous sclerosis 2
c.4850-9C>A Multiple submitters tuberous sclerosis
c.4910_4989+126dup Multiple submitters hereditary neoplastic syndrome
c.4989+3G>C Multiple submitters lymphangioleiomyomatosis
c.4989+6T>C Multiple submitters tuberous sclerosis
c.5160+3G>C Multiple submitters TSC2-related disorder
c.5160+6T>G Multiple submitters tuberous sclerosis 2
c.5161-3C>T Multiple submitters tuberous sclerosis 2
c.5252_5259+19dup Multiple submitters tuberous sclerosis 2
c.5259+1G>A Multiple submitters tuberous sclerosis 2
c.5259+2_5259+28del Multiple submitters tuberous sclerosis 2
c.5259+3A>G Multiple submitters tuberous sclerosis 2
c.5259+50_5275del Multiple submitters tuberous sclerosis
c.5260-10_5278del Multiple submitters tuberous sclerosis 2
c.5260-1G>A Multiple submitters hereditary neoplastic syndrome
c.5260-9_5279del Multiple submitters hereditary neoplastic syndrome
c.648+5G>A Multiple submitters tuberous sclerosis 2
c.648+5G>C Multiple submitters hereditary neoplastic syndrome
c.774+5G>A Multiple submitters lymphangioleiomyomatosis
c.848+6T>C Multiple submitters tuberous sclerosis 2
c.975+5G>A Multiple submitters hereditary neoplastic syndrome
c.976-3C>G Multiple submitters hereditary neoplastic syndrome
c.-4C>T Multiple submitters hereditary neoplastic syndrome
c.-82G>T Multiple submitters tuberous sclerosis 2
p.Ala1003Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1003Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1009Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1031Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1040Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1040Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1053Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala107Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala107Thr Multiple submitters tuberous sclerosis ⚠
p.Ala1110Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1116Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1146Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1153Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1153Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1161Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1163Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1163Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1163Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1163Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1169Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1169Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1171Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1195Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala121Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1234Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1238Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1238Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1238Val Multiple submitters tuberous sclerosis ⚠
p.Ala1248Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1258Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1258Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1258Val Multiple submitters tuberous sclerosis ⚠
p.Ala1261Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1322Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1323Glu Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala1332Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1349Glu Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1349Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1405Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1428Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1429Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1432Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala145Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1467Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1479Asp Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1484Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1546Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1546Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1560Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1617Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1617Thr Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala1617Val Multiple submitters lymphangioleiomyomatosis ⚠
p.Ala161Val Multiple submitters tuberous sclerosis 2
p.Ala1712Thr Multiple submitters astroblastoma, MN1-altered ⚠
p.Ala1716Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1722Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1742Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1742Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1758Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1758Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1776fs Multiple submitters TSC2-related disorder
p.Ala1776Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1782Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala1782Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala196Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Ala196Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala210Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala210Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Ala224Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala233Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala233Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala272Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala284Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala289Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Ala295Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala2Pro Multiple submitters tuberous sclerosis 2
p.Ala2Val Multiple submitters hereditary neoplastic syndrome
p.Ala306Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Ala306Val Multiple submitters hereditary neoplastic syndrome
p.Ala31Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala328Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala357Glu Multiple submitters tuberous sclerosis 2 ⚠
p.Ala42Gly Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala460Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Ala516Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala536Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala536Val Multiple submitters tuberous sclerosis ⚠
p.Ala551Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala552Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala563Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala580Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala580Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala583Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Ala614Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala623Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Ala623Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala673Pro Multiple submitters tuberous sclerosis ⚠
p.Ala675Leu Multiple submitters tuberous sclerosis 2
p.Ala675Val Multiple submitters tuberous sclerosis ⚠
p.Ala678Asp Multiple submitters tuberous sclerosis 2 ⚠
p.Ala678Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala68Gly Multiple submitters hereditary neoplastic syndrome
p.Ala736Thr Multiple submitters lymphangioleiomyomatosis ⚠
p.Ala753Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala772Glu Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala772Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala80Thr Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala837Val Multiple submitters tuberous sclerosis 2 ⚠
p.Ala840Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala84Glu Multiple submitters tuberous sclerosis ⚠
p.Ala84Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala851Val Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala862Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Ala862Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala866Ser Multiple submitters lymphangioleiomyomatosis ⚠
p.Ala870Thr Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala889Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala894Thr Multiple submitters tuberous sclerosis 2 ⚠
p.Ala935Asp Multiple submitters tuberous sclerosis 2 ⚠
p.Ala935Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala935Thr Multiple submitters hereditary neoplastic syndrome
p.Ala935Val Multiple submitters hereditary neoplastic syndrome
p.Ala950Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Ala971Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala97Asp Multiple submitters tuberous sclerosis 2 ⚠
p.Ala97Thr Multiple submitters tuberous sclerosis 2
p.Ala998Pro Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala998Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala998Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1032Gln Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Arg1032Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1056Gly Multiple submitters tuberous sclerosis ⚠
p.Arg1122Leu Multiple submitters lymphangioleiomyomatosis ⚠
p.Arg1138Leu Multiple submitters tuberous sclerosis 2 ⚠
p.Arg115Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg115Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1200Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1201Lys Multiple submitters tuberous sclerosis 2 ⚠
p.Arg120Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg120Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1240His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1245Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1268Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1268Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1268Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1289del Multiple submitters hereditary neoplastic syndrome
p.Arg1289Gly Multiple submitters isolated focal cortical dysplasia type II
p.Arg1289Ser Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Arg1335Gly Multiple submitters hereditary neoplastic syndrome
p.Arg1335Lys Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1335Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1335Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1335Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1361Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1361Ter Multiple submitters hereditary neoplastic syndrome
p.Arg139Lys Multiple submitters tuberous sclerosis 2
p.Arg1409Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1451Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1457Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1459Gln Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1470Leu Multiple submitters hereditary neoplastic syndrome
p.Arg1471Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1471Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1474Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1474Ser Multiple submitters tuberous sclerosis 2
p.Arg1477Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1477Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1477Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1529Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1570Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1634Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1639Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1639His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1688Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1706Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1706Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1713Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1745Leu Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1749Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Arg1753Pro Multiple submitters tuberous sclerosis ⚠
p.Arg1795Gly Multiple submitters tuberous sclerosis ⚠
p.Arg245Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg283Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg283Ser Multiple submitters hereditary neoplastic syndrome
p.Arg29Lys Multiple submitters tuberous sclerosis ⚠
p.Arg29Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg367Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Arg367Trp Multiple submitters tuberous sclerosis ⚠
p.Arg406Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg406Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg413Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg430Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg430Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg430Thr Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Arg454Gly Multiple submitters hereditary neoplastic syndrome
p.Arg458Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg462Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg477Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg477Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg537Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg548Gly Multiple submitters tuberous sclerosis 2 ⚠
p.Arg548Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg585Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg59Gln Multiple submitters tuberous sclerosis ⚠
p.Arg622Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg628Leu Multiple submitters tuberous sclerosis 2 ⚠
p.Arg653Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg653Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg653Ser Multiple submitters tuberous sclerosis 2 ⚠
p.Arg680Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg680Pro Multiple submitters tuberous sclerosis 2 ⚠
p.Arg691Gly Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Arg712Gly Multiple submitters tuberous sclerosis ⚠
p.Arg718Leu Multiple submitters tuberous sclerosis 2 ⚠