TSC1 — 5004 ClinVar variants

All ClinVar germline TSC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2203 flagged for review →

514 Pathogenic · 46 Pathogenic/Likely pathogenic · 108 Likely pathogenic · 599 Conflicting · 131 Benign · 388 Benign/Likely benign · 1017 Likely benign · 2201 Uncertain significance

Full TSC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 2203

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 1

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

TSC1 p.Gly305Arg Likely pathogenic Single submitter
TSC1-related disorder

Predictors agree, ClinVar conflicts 368

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 368

TSC1 p.Ala1026Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala1070Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala1072Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala1092Ser Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Ala1129Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala173Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala186Thr Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Ala283Val Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Ala398Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala494Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala529Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala529Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala562Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala659Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala808Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala817Ser Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Ala83Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala882Thr Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Ala944Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Ala944Val Conflicting Single submitter
tuberous sclerosis
TSC1 p.Ala989Ser Conflicting Single submitter
TSC1-related disorder
TSC1 p.Arg1022Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg1027Gln Conflicting Single submitter
tuberous sclerosis
TSC1 p.Arg1027Trp Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg1055Met Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Arg1062Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg190Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg190His Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg204His Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg228Gln Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Arg22Gln Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Arg245Gln Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Arg246Met Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Arg284Cys Conflicting Single submitter
TSC1-related disorder
TSC1 p.Arg284His Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg284Leu Conflicting Single submitter
tuberous sclerosis
TSC1 p.Arg288Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg288His Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Arg316Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg336Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg517Gln Conflicting Single submitter
TSC1-related disorder
TSC1 p.Arg517Trp Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Arg593Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg689Cys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg689His Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg692Gln Conflicting Single submitter
lymphangioleiomyomatosis
TSC1 p.Arg768His Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg786Gln Conflicting Single submitter
tuberous sclerosis
TSC1 p.Arg811Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg811Gly Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Arg885Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Arg908Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn1008Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn1008Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn1098Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn1157Asp Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn532Tyr Conflicting Single submitter
tuberous sclerosis
TSC1 p.Asn762Asp Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Asn762Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn762Thr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn805Asp Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn868Ser Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Asn891Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asn997Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp1002Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp1107Asn Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp1136Glu Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp1146Tyr Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Asp15Asn Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp24Asn Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp273Glu Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp291Asn Conflicting Single submitter
tuberous sclerosis
TSC1 p.Asp426Tyr Conflicting Single submitter
tuberous sclerosis
TSC1 p.Asp546Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp556Glu Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp563Asn Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Asp605Asn Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Asp693His Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp872His Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Asp964Asn Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Asp972Asn Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Cys1000Trp Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Cys306Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Cys431Arg Conflicting Single submitter
tuberous sclerosis
TSC1 p.Cys586Arg Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Cys995Tyr Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Cys996Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Cys996Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gln149Glu Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gln280Arg Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gln301Arg Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gln325Glu Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gln413Arg Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gln527Arg Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gln573Lys Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gln600His Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gln654Glu Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gln758Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gln767Glu Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gln792Arg Conflicting Single submitter
ovarian cancer
TSC1 p.Gln794Lys Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gln843Glu Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Gln897Leu Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gln956Arg Conflicting Single submitter
tuberous sclerosis
TSC1 p.Glu1010Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu1044Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu1162Asp Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu214Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu258Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu51Asp Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu51Gln Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu534Asp Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Glu625Ala Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu961Gly Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Glu979Lys Conflicting Single submitter
tuberous sclerosis
TSC1 p.Glu990Lys Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly1016Asp Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Gly1031Arg Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gly1035Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly1036Glu Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gly1108Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly1122Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly1126Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly132Ala Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly20Ser Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly443Arg Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gly443Val Conflicting Single submitter
lymphangioleiomyomatosis
TSC1 p.Gly452Ala Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly560Asp Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly560Ser Conflicting Single submitter
tuberous sclerosis
TSC1 p.Gly633Arg Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gly639Asp Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.Gly639Val Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly8Ala Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gly999Arg Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.His1007Tyr Conflicting Single submitter
tuberous sclerosis
TSC1 p.His1053Asp Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.His1139Gln Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.His1139Pro Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.His1139Tyr Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.His1152Arg Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.His240Gln Conflicting Single submitter
tuberous sclerosis
TSC1 p.His287Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.His371Gln Conflicting Single submitter
tuberous sclerosis
TSC1 p.His433Arg Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.His606Gln Conflicting Single submitter
tuberous sclerosis
TSC1 p.His606Tyr Conflicting Single submitter
tuberous sclerosis 1
TSC1 p.His732Arg Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.His732Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.His894Tyr Conflicting Single submitter
tuberous sclerosis 1

Predicted LoF vs a conflicting call 8

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.

TSC1 c.2209-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 c.2391+1G>A Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 c.2502+1G>A Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 c.2502+1G>T Conflicting Single submitter
tuberous sclerosis 1
TSC1 c.-80-2A>G Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Gln4Ter Conflicting Single submitter
hereditary neoplastic syndrome
TSC1 p.Leu965fs Conflicting Single submitter
isolated focal cortical dysplasia type II
TSC1 p.Tyr929Ter Conflicting Single submitter
tuberous sclerosis 1

Predictors lean, ClinVar uncertain 1313

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 1313

TSC1 p.Ala1070Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala1092Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala1092Thr Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Ala110Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala173Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala186Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala186Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala260Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala27Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala298Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala2Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala344Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala428Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala428Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala480Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala492Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala494Val Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Ala522Pro Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Ala522Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala523Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala529Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala529Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala5Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala631Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala728Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala759Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala759Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala759Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala83Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala83Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala84Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala917Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala944Ser Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Ala950Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala950Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala983Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala985Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ala988Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala989Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg1027Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg1027Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg1055Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg1093Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg160Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg249Ile Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg284Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg284Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg316Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg424Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg429Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg442Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg484Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg570Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg689Leu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg692Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg706Cys Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Arg721Pro Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Arg768Cys Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Arg780Lys Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Arg86His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg938Ile Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg938Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg938Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg947Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg947Lys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg968Lys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg98Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asn1015Lys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asn1015Ser Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Asn1098His Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asn1134His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn1157Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asn32Ser Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Asn34Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn34Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn364Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn440Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn665Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn6Asp Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC1 p.Asn791Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn818Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn818Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn818Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asn868Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp1107Glu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp1136Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp1146Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp153Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp299Asn Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp404Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp458His Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp476Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp556Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp569Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp658Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp686Asn Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp693Asn Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp872Asn Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp932Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp964Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp994His Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Cys1000Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Cys1104Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Cys259Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Cys306Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Cys401Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Cys803Gly Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC1 p.Cys996Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln1054Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln109Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln109Glu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln280His Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC1 p.Gln301Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln325Arg Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Gln325His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln343Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln413Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln413Leu Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Gln413Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln435Arg Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Gln435Glu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln435His Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln4Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln527His Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Gln527Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln550Leu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln573Glu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln573Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln654Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln739Glu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln758Glu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln767Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln797Lys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln833Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln898Lys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln900Glu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln906Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln936Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln940Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln942Glu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln956Leu Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Glu1009Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Glu1017Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Glu1017Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu1049Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu1049Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Glu1064Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu1069Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu1106Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu1115Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 513

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 513

TSC1 p.Ala182Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala186Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ala616Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg1093Leu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg1097Leu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg22Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg706Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg715Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg715Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg715Trp Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Arg718Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Arg718Trp Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg786Leu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Arg947Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asn198Ser Benign/Likely benign Multiple submitters
tuberous sclerosis
TSC1 p.Asn716Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp123Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp254Asn Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp273Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp36Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Asp36His Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp36Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp404Val Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Asp471Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp605Gly Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp650Asn Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Asp675Tyr Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Asp69Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Asp738Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Asp746Tyr Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Asp74Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Asp74Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln145Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln701Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln711Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gln743Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gln797His Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC1 p.Gln926His Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Glu1094Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu1094Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu478Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu485Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu731Lys Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Glu839Lys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Glu876Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu925Lys Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Glu970Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Glu970Lys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Gly1089Ala Benign/Likely benign Multiple submitters
tuberous sclerosis
TSC1 p.Gly159Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gly159Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gly274Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gly383Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gly385Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gly656Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Gly656Arg Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.His105Gln Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.His105Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.His150Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.His206Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.His253Gln Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.His678Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.His678Gln Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.His678Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.His68Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.His699Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.His699Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.His71Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.His71Tyr Uncertain significance Multiple submitters
lymphangioleiomyomatosis
TSC1 p.Ile482Met Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ile954Lys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ile954Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Leu107Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Leu1088Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Leu1151Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Leu134Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Leu177Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Leu187Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Leu264Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Leu45Val Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Leu58Ser Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Leu652Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Leu669Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Leu691Phe Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Leu691Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Leu719Phe Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Leu99Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Lys106Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Lys121Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Lys121Met Likely pathogenic Multiple submitters
tuberous sclerosis 1
TSC1 p.Lys375Asn Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Lys662Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Lys708Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Lys70Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Lys737Glu Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Lys751Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Lys869Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Lys919Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Met142Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Met142Val Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Met355Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Met880Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Phe1096Leu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Phe377Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Phe608Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Phe619Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Phe707Leu Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Phe958Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro1082Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro169Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Pro169Ser Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Pro244Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro244Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro266Ala Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Pro266Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro311His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro311Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro311Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro349Ala Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Pro358Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro358Ser Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Pro362Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Pro387Ser Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Pro396Leu Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Pro396Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Pro670His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser1086Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser1086Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser108Cys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser108Phe Uncertain significance Multiple submitters
isolated focal cortical dysplasia type II
TSC1 p.Ser183Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser208Gly Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Ser208Thr Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser276Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser295Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser295Cys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser295Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser331Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser348Arg Uncertain significance Multiple submitters
tuberous sclerosis
TSC1 p.Ser350Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser361Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser487Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser584Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser671Ile Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser682Cys Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser682Phe Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser682Pro Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser777Arg Uncertain significance Multiple submitters
tuberous sclerosis 1
TSC1 p.Ser829Arg Benign/Likely benign Multiple submitters
hereditary neoplastic syndrome
TSC1 p.Ser91Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome

All TSC1 variants

Pathogenic 514

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

c.1997+1G>T Multiple submitters tuberous sclerosis 1
c.2041+1G>A Multiple submitters tuberous sclerosis 1
c.211-1G>A Multiple submitters lymphangioleiomyomatosis
c.211-2A>C Multiple submitters tuberous sclerosis 1
c.2503-1G>C Multiple submitters tuberous sclerosis 1
c.2626-1G>A Multiple submitters TSC1-related disorder
c.2626-2A>G Multiple submitters tuberous sclerosis
c.508+1G>C Multiple submitters tuberous sclerosis 1
c.737+1G>A Multiple submitters tuberous sclerosis
c.738-1G>C Multiple submitters tuberous sclerosis 1
c.738-2A>G Multiple submitters tuberous sclerosis
c.738-2A>T Multiple submitters tuberous sclerosis 1
c.913+1G>A Multiple submitters tuberous sclerosis 1
p.Ala173fs Multiple submitters tuberous sclerosis
p.Arg228Ter Multiple submitters TSC1-related disorder
p.Arg420fs Multiple submitters tuberous sclerosis 1
p.Arg424fs Multiple submitters hereditary neoplastic syndrome
p.Arg429fs Multiple submitters tuberous sclerosis 1
p.Arg509Ter Multiple submitters TSC1-related disorder
p.Arg570fs Multiple submitters hereditary neoplastic syndrome
p.Arg786Ter Multiple submitters TSC1-related disorder
p.Asn6fs Multiple submitters tuberous sclerosis 1
p.Asn716fs Multiple submitters tuberous sclerosis 1
p.Asn837fs Multiple submitters TSC1-related disorder
p.Asp368fs Multiple submitters tuberous sclerosis
p.Asp471fs Multiple submitters tuberous sclerosis 1
p.Cys401Ter Multiple submitters tuberous sclerosis 1
p.Gln109fs Multiple submitters hereditary neoplastic syndrome
p.Gln109Ter Multiple submitters tuberous sclerosis 1
p.Gln145Ter Multiple submitters tuberous sclerosis
p.Gln149Ter Multiple submitters TSC1-related disorder
p.Gln301fs Multiple submitters tuberous sclerosis 1
p.Gln301Ter Multiple submitters tuberous sclerosis 1
p.Gln325Ter Multiple submitters tuberous sclerosis 1
p.Gln343Ter Multiple submitters tuberous sclerosis 1
p.Gln413fs Multiple submitters tuberous sclerosis 1
p.Gln527fs Multiple submitters tuberous sclerosis 1
p.Gln55Ter Multiple submitters tuberous sclerosis 1
p.Gln654Ter Multiple submitters TSC1-related disorder
p.Gln655Ter Multiple submitters TSC1-related disorder
p.Gln65Ter Multiple submitters tuberous sclerosis
p.Gln694Ter Multiple submitters hereditary neoplastic syndrome
p.Gln701Ter Multiple submitters TSC1-related disorder
p.Gln739Ter Multiple submitters tuberous sclerosis 1
p.Gln743Ter Multiple submitters tuberous sclerosis 1
p.Gln748Ter Multiple submitters tuberous sclerosis 1
p.Gln755Ter Multiple submitters tuberous sclerosis 1
p.Gln758Ter Multiple submitters tuberous sclerosis 1
p.Gln765Ter Multiple submitters tuberous sclerosis 1
p.Gln781Ter Multiple submitters TSC1-related disorder
p.Gln783Ter Multiple submitters tuberous sclerosis 1
p.Gln792Ter Multiple submitters hereditary neoplastic syndrome
p.Gln794Ter Multiple submitters tuberous sclerosis 1
p.Gln797Ter Multiple submitters lymphangioleiomyomatosis
p.Gln830Ter Multiple submitters tuberous sclerosis 1
p.Gln842Ter Multiple submitters tuberous sclerosis 1
p.Gln844Ter Multiple submitters hereditary neoplastic syndrome
p.Gln851Ter Multiple submitters hereditary neoplastic syndrome
p.Gln865Ter Multiple submitters tuberous sclerosis 1
p.Gln867Ter Multiple submitters hereditary neoplastic syndrome
p.Gln897Ter Multiple submitters hereditary neoplastic syndrome
p.Gln898Ter Multiple submitters tuberous sclerosis 1
p.Gln900Ter Multiple submitters hereditary neoplastic syndrome
p.Gln906Ter Multiple submitters tuberous sclerosis 1
p.Gln926Ter Multiple submitters tuberous sclerosis 1
p.Gln942Ter Multiple submitters hereditary neoplastic syndrome
p.Gln956Ter Multiple submitters hereditary neoplastic syndrome
p.Glu232Ter Multiple submitters tuberous sclerosis 1
p.Glu251Ter Multiple submitters tuberous sclerosis 1
p.Glu478fs Multiple submitters TSC1-related disorder
p.Glu636fs Multiple submitters TSC1-related disorder
p.Glu663Ter Multiple submitters tuberous sclerosis 1
p.Glu731Ter Multiple submitters tuberous sclerosis 1
p.Glu801Ter Multiple submitters tuberous sclerosis 1
p.Glu839fs Multiple submitters tuberous sclerosis 1
p.Glu864Ter Multiple submitters tuberous sclerosis 1
p.Glu876Ter Multiple submitters tuberous sclerosis 1
p.Leu213fs Multiple submitters tuberous sclerosis 1
p.Leu388fs Multiple submitters tuberous sclerosis 1
p.Leu61Pro Multiple submitters tuberous sclerosis 1
p.Leu703_Tyr704insTer Multiple submitters tuberous sclerosis 1
p.Leu703fs Multiple submitters tuberous sclerosis 1
p.Leu828fs Multiple submitters tuberous sclerosis 1
p.Leu87Ter Multiple submitters hereditary neoplastic syndrome
p.Lys630fs Multiple submitters TSC1-related disorder
p.Lys869Ter Multiple submitters hereditary neoplastic syndrome
p.Lys881Ter Multiple submitters tuberous sclerosis 1
p.Lys907fs Multiple submitters tuberous sclerosis 1
p.Phe216fs Multiple submitters tuberous sclerosis 1
p.Phe377fs Multiple submitters tuberous sclerosis
p.Phe707delinsLeuArgProValAlaPheThrAlaGlnProValThrLeuTer Multiple submitters tuberous sclerosis 1
p.Pro196fs Multiple submitters tuberous sclerosis 1
p.Pro244fs Multiple submitters tuberous sclerosis 1
p.Ser162Ter Multiple submitters hereditary neoplastic syndrome
p.Ser270_Tyr271insTer Multiple submitters hereditary neoplastic syndrome
p.Ser289Ter Multiple submitters tuberous sclerosis 1
p.Ser457fs Multiple submitters tuberous sclerosis
p.Ser644fs Multiple submitters tuberous sclerosis 1
p.Ser836Ter Multiple submitters tuberous sclerosis 1
p.Ser840Ter Multiple submitters tuberous sclerosis 1
p.Ser91fs Multiple submitters tuberous sclerosis 1
p.Thr215_Phe216insTer Multiple submitters tuberous sclerosis
p.Thr26fs Multiple submitters tuberous sclerosis 1
p.Thr339fs Multiple submitters tuberous sclerosis 1
p.Thr635fs Multiple submitters TSC1-related disorder
p.Trp164Ter Multiple submitters TSC1-related disorder
p.Trp347Ter Multiple submitters hereditary neoplastic syndrome
p.Trp676Ter Multiple submitters tuberous sclerosis 1
p.Trp750Ter Multiple submitters tuberous sclerosis
p.Tyr176fs Multiple submitters hereditary neoplastic syndrome
p.Tyr185Ter Multiple submitters tuberous sclerosis 1
p.Tyr297Ter Multiple submitters tuberous sclerosis 1
p.Tyr373Ter Multiple submitters tuberous sclerosis 1
p.Tyr704fs Multiple submitters tuberous sclerosis 1
c.1030-2A>G Single submitter tuberous sclerosis 1
c.1030delG Single submitter tuberous sclerosis 1
c.1264-1G>C Single submitter tuberous sclerosis
c.1538_1997+108del Single submitter tuberous sclerosis 1
c.1998-1G>C Single submitter tuberous sclerosis 1
c.1998-2A>T Single submitter tuberous sclerosis 1
c.2039_2041+1del Single submitter tuberous sclerosis 1
c.2041+240_2392-319del Single submitter tuberous sclerosis 1
c.2041+2T>C Single submitter hereditary neoplastic syndrome
c.2042-1G>T Single submitter
c.210+1G>A Single submitter tuberous sclerosis 1
c.210+1G>T Single submitter tuberous sclerosis 1
c.211-1G>T Single submitter tuberous sclerosis 1
c.211-2A>G Single submitter tuberous sclerosis 1
c.2209-258_2502+101del Single submitter tuberous sclerosis 1
c.2503-1G>A Single submitter tuberous sclerosis 1
c.2503-2A>G Single submitter tuberous sclerosis 1
c.2625_2975del Single submitter tuberous sclerosis 1
c.2626-2A>T Single submitter tuberous sclerosis
c.2626-2del Single submitter tuberous sclerosis
c.360_361insSVAelement Single submitter tuberous sclerosis 1
c.363+1G>A Single submitter tuberous sclerosis 1
c.363+668G>C Single submitter tuberous sclerosis 1
c.364-1G>A Single submitter tuberous sclerosis 1
c.364-1G>C Single submitter tuberous sclerosis 1
c.364-1G>T Single submitter tuberous sclerosis 1
c.508+1G>A Single submitter tuberous sclerosis 1
c.509-8_509-1del Single submitter tuberous sclerosis 1
c.664-1G>C Single submitter tuberous sclerosis 1
c.737_737+1dup Single submitter
c.737+1G>C Single submitter
c.738-1G>A Single submitter tuberous sclerosis 1
c.913+1G>T Single submitter tuberous sclerosis 1
c.913+2T>A Single submitter tuberous sclerosis 1
c.913+2T>G Single submitter tuberous sclerosis 1
c.914-2A>G Single submitter
c.993_1029+46del Single submitter
c.-219_-144+3del Single submitter tuberous sclerosis 1
p.Ala269fs Single submitter hereditary neoplastic syndrome
p.Ala481fs Single submitter
p.Ala494fs Single submitter tuberous sclerosis 1
p.Ala562fs Single submitter tuberous sclerosis
p.Ala728fs Single submitter tuberous sclerosis 1
p.Ala759fs Single submitter hereditary neoplastic syndrome
p.Ala808fs Single submitter tuberous sclerosis 1
p.Ala84fs Single submitter tuberous sclerosis 1
p.Ala883_Tyr884insTer Single submitter tuberous sclerosis 1
p.Arg190Pro Single submitter tuberous sclerosis 1
p.Arg246fs Single submitter tuberous sclerosis 1
p.Arg249_Leu250insTer Single submitter tuberous sclerosis
p.Arg284fs Single submitter
p.Arg316fs Single submitter tuberous sclerosis 1
p.Arg424Ter Single submitter tuberous sclerosis 1
p.Arg484fs Single submitter
p.Arg484Ter Single submitter tuberous sclerosis 1
p.Arg651fs Single submitter tuberous sclerosis 1
p.Arg689fs Single submitter tuberous sclerosis 1
p.Arg692fs Single submitter
p.Arg692Ter Single submitter tuberous sclerosis 1
p.Arg709fs Single submitter tuberous sclerosis 1
p.Arg718fs Single submitter
p.Arg721fs Single submitter
p.Arg760fs Single submitter
p.Arg780fs Single submitter tuberous sclerosis 1
p.Arg786fs Single submitter tuberous sclerosis 1
p.Arg850fs Single submitter tuberous sclerosis 1
p.Arg892fs Single submitter tuberous sclerosis 1
p.Arg892Ter Single submitter tuberous sclerosis 1
p.Arg901fs Single submitter tuberous sclerosis 1
p.Asn302fs Single submitter
p.Asn321fs Single submitter hereditary neoplastic syndrome
p.Asn43fs Single submitter tuberous sclerosis 1
p.Asn634fs Single submitter tuberous sclerosis 1
p.Asn762fs Single submitter tuberous sclerosis 1
p.Asn77fs Single submitter tuberous sclerosis 1
p.Asn818fs Single submitter tuberous sclerosis 1
p.Asn849fs Single submitter tuberous sclerosis 1
p.Asn891fs Single submitter tuberous sclerosis 1
p.Asp15fs Single submitter tuberous sclerosis 1
p.Asp265fs Single submitter tuberous sclerosis
p.Asp273fs Single submitter tuberous sclerosis 1
p.Asp476fs Single submitter tuberous sclerosis 1
p.Asp47fs Single submitter tuberous sclerosis 1
p.Asp504Ter Single submitter
p.Asp510fs Single submitter tuberous sclerosis 1
p.Asp605fs Single submitter
p.Asp638fs Single submitter tuberous sclerosis 1
p.Asp693fs Single submitter tuberous sclerosis 1
p.Asp738delinsGluThrSerLeuLeuTer Single submitter tuberous sclerosis 1
p.Asp738fs Single submitter tuberous sclerosis 1
p.Asp769Ter Single submitter tuberous sclerosis 1
p.Asp872fs Single submitter TSC1-related disorder
p.Asp932fs Single submitter tuberous sclerosis 1
p.Asp972fs Single submitter tuberous sclerosis 1
p.Cys119fs Single submitter hereditary neoplastic syndrome
p.Cys353fs Single submitter tuberous sclerosis 1
p.Cys401fs Single submitter tuberous sclerosis 1
p.Cys559fs Single submitter tuberous sclerosis 1
p.Cys559Ter Single submitter tuberous sclerosis 1
p.Cys586fs Single submitter tuberous sclerosis
p.Cys803fs Single submitter tuberous sclerosis 1
p.Cys822fs Single submitter tuberous sclerosis 1
p.Gln100Ter Single submitter tuberous sclerosis 1
p.Gln145fs Single submitter tuberous sclerosis 1
p.Gln280Ter Single submitter tuberous sclerosis 1
p.Gln3Ter Single submitter tuberous sclerosis 1
p.Gln435fs Single submitter tuberous sclerosis 1
p.Gln516fs Single submitter tuberous sclerosis 1
p.Gln516Ter Single submitter tuberous sclerosis 1
p.Gln550Ter Single submitter tuberous sclerosis 1
p.Gln55fs Single submitter tuberous sclerosis
p.Gln600fs Single submitter tuberous sclerosis 1
p.Gln654fs Single submitter tuberous sclerosis 1
p.Gln65fs Single submitter tuberous sclerosis 1
p.Gln694fs Single submitter hereditary neoplastic syndrome
p.Gln701fs Single submitter hereditary neoplastic syndrome
p.Gln710Ter Single submitter tuberous sclerosis
p.Gln711fs Single submitter tuberous sclerosis 1
p.Gln711Ter Single submitter tuberous sclerosis 1
p.Gln739fs Single submitter tuberous sclerosis 1
p.Gln748fs Single submitter tuberous sclerosis 1
p.Gln755fs Single submitter tuberous sclerosis
p.Gln763Ter Single submitter tuberous sclerosis 1
p.Gln765fs Single submitter
p.Gln767Ter Single submitter tuberous sclerosis 1
p.Gln778fs Single submitter hereditary neoplastic syndrome
p.Gln778Ter Single submitter tuberous sclerosis
p.Gln833fs Single submitter
p.Gln851fs Single submitter hereditary neoplastic syndrome
p.Gln906fs Single submitter tuberous sclerosis 1
p.Gln951Ter Single submitter tuberous sclerosis 1
p.Glu211Ter Single submitter isolated focal cortical dysplasia type II
p.Glu217delinsPhePhePhePhePhePheXaaXaaXaaXaaTer Single submitter tuberous sclerosis 1
p.Glu225fs Single submitter tuberous sclerosis 1
p.Glu225Ter Single submitter tuberous sclerosis 1
p.Glu241fs Single submitter Paediatric disorders
p.Glu241Ter Single submitter tuberous sclerosis 1
p.Glu258fs Single submitter tuberous sclerosis 1
p.Glu31fs Single submitter tuberous sclerosis 1
p.Glu446Ter Single submitter tuberous sclerosis 1
p.Glu478Ter Single submitter tuberous sclerosis 1
p.Glu485Ter Single submitter tuberous sclerosis 1
p.Glu534fs Single submitter tuberous sclerosis 1
p.Glu564Ter Single submitter tuberous sclerosis 1
p.Glu571fs Single submitter
p.Glu609fs Single submitter tuberous sclerosis 1
p.Glu609Ter Single submitter tuberous sclerosis 1
p.Glu625Ter Single submitter tuberous sclerosis 1
p.Glu626fs Single submitter tuberous sclerosis 1
p.Glu626Ter Single submitter tuberous sclerosis 1
p.Glu647Ter Single submitter tuberous sclerosis 1
p.Glu744fs Single submitter tuberous sclerosis 1
p.Glu757fs Single submitter
p.Glu787fs Single submitter tuberous sclerosis 1
p.Glu788fs Single submitter tuberous sclerosis
p.Glu788Ter Single submitter tuberous sclerosis 1
p.Glu801fs Single submitter tuberous sclerosis 1
p.Glu813_Leu814insTer Single submitter tuberous sclerosis 1
p.Glu825fs Single submitter tuberous sclerosis 1
p.Glu857fs Single submitter tuberous sclerosis 1
p.Glu860Ter Single submitter tuberous sclerosis 1
p.Glu876_Val877insTer Single submitter tuberous sclerosis
p.Glu878_Met879insTer Single submitter tuberous sclerosis 1
p.Glu878Ter Single submitter
p.Glu887fs Single submitter tuberous sclerosis 1
p.Glu959fs Single submitter hereditary neoplastic syndrome
p.Glu9fs Single submitter tuberous sclerosis 1
p.Gly132_Val133insTer Single submitter tuberous sclerosis 1
p.Gly132fs Single submitter tuberous sclerosis 1
p.Gly159fs Single submitter TSC1-related disorder
p.Gly170fs Single submitter tuberous sclerosis 1
p.Gly20fs Single submitter tuberous sclerosis 1
p.Gly385fs Single submitter tuberous sclerosis
p.Gly389Ter Single submitter
p.Gly38fs Single submitter
p.Gly443Ter Single submitter tuberous sclerosis 1
p.Gly449fs Single submitter tuberous sclerosis 1
p.Gly452fs Single submitter tuberous sclerosis 1
p.Gly461fs Single submitter tuberous sclerosis 1
p.Gly464fs Single submitter tuberous sclerosis 1
p.Gly501Ter Single submitter tuberous sclerosis 1
p.Gly514fs Single submitter
p.Gly568fs Single submitter
p.Gly633fs Single submitter tuberous sclerosis 1
p.Gly656Ter Single submitter tuberous sclerosis 1
p.Gly680fs Single submitter tuberous sclerosis 1

Pathogenic/Likely pathogenic 46

c.1029+1G>A Multiple submitters tuberous sclerosis 1
c.1029+1G>C Multiple submitters tuberous sclerosis 1
c.107-1G>A Multiple submitters tuberous sclerosis 1
c.1264-1G>A Multiple submitters tuberous sclerosis 1
c.1439-1G>A Multiple submitters tuberous sclerosis 1
c.1997+1G>A Multiple submitters tuberous sclerosis 1
c.1997+2T>G Multiple submitters tuberous sclerosis 1
c.1998-1G>T Multiple submitters hereditary neoplastic syndrome
c.1998-2A>C Multiple submitters tuberous sclerosis 1
c.1998-2A>G Multiple submitters tuberous sclerosis
c.2042-5A>G Multiple submitters hereditary neoplastic syndrome
c.2208+2T>A Multiple submitters isolated focal cortical dysplasia type II
c.2625+367A>G Multiple submitters tuberous sclerosis 1
c.2626-2A>C Multiple submitters tuberous sclerosis 1
c.363+1G>T Multiple submitters tuberous sclerosis 1
c.363+668G>A Multiple submitters tuberous sclerosis
c.364-2A>G Multiple submitters tuberous sclerosis 1
c.508+2T>C Multiple submitters tuberous sclerosis 1
c.509-1G>A Multiple submitters tuberous sclerosis 1
c.663+1G>A Multiple submitters tuberous sclerosis 1
c.664-15A>G Multiple submitters hereditary neoplastic syndrome
c.664-1G>A Multiple submitters tuberous sclerosis
c.737+1G>T Multiple submitters hereditary neoplastic syndrome
c.737+2T>C Multiple submitters hereditary neoplastic syndrome
c.737+3A>G Multiple submitters hereditary neoplastic syndrome
c.913+2T>C Multiple submitters hereditary neoplastic syndrome
p.Ala283fs Multiple submitters tuberous sclerosis 1
p.Ala398fs Multiple submitters tuberous sclerosis
p.Arg245Ter Multiple submitters TSC1-related disorder
p.Arg336fs Multiple submitters tuberous sclerosis 1
p.Arg500Ter Multiple submitters TSC1-related disorder
p.Arg780Ter Multiple submitters tuberous sclerosis 1
p.Gln328Ter Multiple submitters tuberous sclerosis 1
p.Gln527Ter Multiple submitters tuberous sclerosis 1
p.Gln833Ter Multiple submitters tuberous sclerosis
p.Gln843Ter Multiple submitters tuberous sclerosis 1
p.Gln936Ter Multiple submitters tuberous sclerosis 1
p.Gln940Ter Multiple submitters tuberous sclerosis 1
p.Glu258Ter Multiple submitters TSC1-related disorder
p.Glu78Ter Multiple submitters tuberous sclerosis 1
p.Gly443fs Multiple submitters lymphangioleiomyomatosis
p.Leu136fs Multiple submitters tuberous sclerosis 1
p.Leu191His Multiple submitters hereditary neoplastic syndrome
p.Phe216Ser Multiple submitters TSC1-related disorder
p.Tyr48Ter Multiple submitters tuberous sclerosis 1
p.Val376fs Multiple submitters tuberous sclerosis 1

Likely pathogenic 108

c.1141+1G>A Multiple submitters tuberous sclerosis 1
c.1997+2T>C Multiple submitters tuberous sclerosis
c.2042-2A>G Multiple submitters isolated focal cortical dysplasia type II
p.Ala12fs Multiple submitters hereditary neoplastic syndrome
p.Gly132Asp Multiple submitters tuberous sclerosis 1
p.Leu902fs Multiple submitters TSC1-related disorder
p.Lys121Met Multiple submitters tuberous sclerosis 1 ⚠
p.Met224Arg Multiple submitters tuberous sclerosis
c.1029+2T>C Single submitter
c.1029+64C>A Single submitter hereditary neoplastic syndrome
c.106+2T>C Single submitter tuberous sclerosis 1
c.106+2T>G Single submitter TSC1-related disorder
c.107-1G>C Single submitter isolated focal cortical dysplasia type II
c.1138_1141+1del Single submitter tuberous sclerosis 1
c.1141+1G>T Single submitter tuberous sclerosis
c.1263+1G>A Single submitter hereditary neoplastic syndrome
c.1264-2A>G Single submitter isolated focal cortical dysplasia type II
c.1334-30_1344del Single submitter tuberous sclerosis 1
c.1439-1G>C Single submitter tuberous sclerosis 1
c.1439-2A>G Single submitter tuberous sclerosis 1
c.1997+1G>C Single submitter tuberous sclerosis 1
c.1998-5_2026del Single submitter tuberous sclerosis 1
c.2042-177_2266del Single submitter tuberous sclerosis 1
c.210+1G>C Single submitter hereditary neoplastic syndrome
c.211-7T>G Single submitter
c.2391+1G>C Single submitter tuberous sclerosis 1
c.2391+1G>T Single submitter tuberous sclerosis 1
c.2392-1del Single submitter tuberous sclerosis 1
c.2392-1G>T Single submitter tuberous sclerosis 1
c.2392-2A>G Single submitter tuberous sclerosis 1
c.2392-6_2398del Single submitter tuberous sclerosis 1
c.2392-74_2392-1del Single submitter
c.2502+2_2502+9del Single submitter tuberous sclerosis 1
c.2626-4_2648del Single submitter TSC1-related disorder
c.2813+1G>C Single submitter hereditary neoplastic syndrome
c.2813+2T>G Single submitter tuberous sclerosis 1
c.2814-1G>A Single submitter tuberous sclerosis 1
c.2814-2A>G Single submitter tuberous sclerosis 1
c.363+2_363+5del Single submitter tuberous sclerosis 1
c.363+3A>T Single submitter hereditary neoplastic syndrome
c.363+5G>C Single submitter tuberous sclerosis 1
c.509-1G>C Single submitter tuberous sclerosis 1
c.509-2A>G Single submitter
c.663+2T>C Single submitter tuberous sclerosis 1
c.664-1del Single submitter tuberous sclerosis 1
c.737+2T>G Single submitter
c.738-2_740del Single submitter tuberous sclerosis 1
c.901_913+1del Single submitter tuberous sclerosis 1
p.Ala567fs Single submitter tuberous sclerosis
p.Ala611fs Single submitter tuberous sclerosis 1
p.Asp153fs Single submitter
p.Asp254delinsValGluGluIleArgAsnSerTer Single submitter TSC1-related disorder
p.Asp650_Arg651insTer Single submitter tuberous sclerosis 1
p.Asp675fs Single submitter tuberous sclerosis 1
p.Asp802fs Single submitter tuberous sclerosis 1
p.Gln600Ter Single submitter tuberous sclerosis 1
p.Gln767fs Single submitter
p.Glu445Ter Single submitter TSC1-related disorder
p.Glu757Ter Single submitter tuberous sclerosis 1
p.Glu795Ter Single submitter TSC1-related disorder
p.Glu889Ter Single submitter tuberous sclerosis
p.Gly305Arg Single submitter TSC1-related disorder ⚠
p.Gly502_Phe503insTer Single submitter TSC1-related disorder
p.Gly595fs Single submitter tuberous sclerosis 1
p.His181Pro Single submitter tuberous sclerosis 1
p.His437fs Single submitter tuberous sclerosis 1
p.His712fs Single submitter tuberous sclerosis 1
p.Ile257fs Single submitter tuberous sclerosis 1
p.Ile338fs Single submitter tuberous sclerosis 1
p.Leu113_Pro114del Single submitter tuberous sclerosis 1
p.Leu191Pro Single submitter
p.Leu369fs Single submitter tuberous sclerosis 1
p.Leu557fs Single submitter TSC1-related disorder
p.Leu607fs Single submitter TSC1-related disorder
p.Leu61Arg Single submitter tuberous sclerosis 1
p.Leu64fs Single submitter TSC1-related disorder
p.Leu669fs Single submitter TSC1-related disorder
p.Leu72Pro Single submitter tuberous sclerosis 1
p.Leu740Ter Single submitter TSC1-related disorder
p.Leu742fs Single submitter
p.Leu93Gln Single submitter tuberous sclerosis 1
p.Lys121Asn Single submitter hereditary neoplastic syndrome ⚠
p.Lys666Ter Single submitter tuberous sclerosis 1
p.Lys820Ter Single submitter TSC1-related disorder
p.Phe188Val Single submitter tuberous sclerosis 1
p.Pro141delinsLeuThrSerLeuSerSerGlnGlnAlaSerTrpCysTer Single submitter TSC1-related disorder
p.Pro583fs Single submitter TSC1-related disorder
p.Pro603fs Single submitter TSC1-related disorder
p.Pro645fs Single submitter tuberous sclerosis 1
p.Ser102fs Single submitter tuberous sclerosis 1
p.Ser370Ter Single submitter
p.Ser410Ter Single submitter tuberous sclerosis 1
p.Ser487fs Single submitter tuberous sclerosis 1
p.Ser524Ter Single submitter
p.Ser685Ter Single submitter tuberous sclerosis
p.Ser871fs Single submitter tuberous sclerosis 1
p.Ser946fs Single submitter TSC1-related disorder
p.Thr345fs Single submitter isolated focal cortical dysplasia type II
p.Thr386fs Single submitter tuberous sclerosis 1
p.Tyr185fs Single submitter tuberous sclerosis 1
p.Tyr304Ter Single submitter tuberous sclerosis 1
p.Val126_Val127insArg Single submitter tuberous sclerosis 1
p.Val128del Single submitter tuberous sclerosis 1
p.Val220Asp Single submitter hereditary neoplastic syndrome
p.Val220fs Single submitter Cortical tubers
p.Val42Glu Single submitter tuberous sclerosis 1
p.Arg442Ter No assertion criteria tuberous sclerosis 1
p.Glu534Ter No assertion criteria TSC1-related disorder

Conflicting classifications of pathogenicity 599

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

c.1029+3A>G Single submitter tuberous sclerosis 1
c.1030-14T>A Single submitter tuberous sclerosis
c.1030-14T>C Single submitter tuberous sclerosis
c.1030-5C>T Single submitter hereditary neoplastic syndrome
c.1030-7T>C Single submitter tuberous sclerosis 1
c.106+4A>G Single submitter hereditary neoplastic syndrome
c.106+5G>A Single submitter hereditary neoplastic syndrome
c.107-8T>C Single submitter tuberous sclerosis 1
c.1141+3A>G Single submitter hereditary neoplastic syndrome
c.1263+37C>T Single submitter hereditary neoplastic syndrome
c.1263+4C>T Single submitter tuberous sclerosis 1
c.1264-10_1264-6del Single submitter tuberous sclerosis 1
c.1264-4T>G Single submitter hereditary neoplastic syndrome
c.1333+13C>T Single submitter hereditary neoplastic syndrome
c.1333+6del Single submitter tuberous sclerosis
c.1438+5T>C Single submitter tuberous sclerosis 1
c.1438+6G>A Single submitter hereditary neoplastic syndrome
c.1439-10_1439-3del Single submitter tuberous sclerosis 1
c.1439-10T>A Single submitter tuberous sclerosis
c.1439-15C>G Single submitter tuberous sclerosis 1
c.1439-20_1439-9del Single submitter tuberous sclerosis
c.1439-7C>A Single submitter tuberous sclerosis 1
c.1998-5C>T Single submitter hereditary neoplastic syndrome
c.1998-7T>G Single submitter tuberous sclerosis
c.2041+5del Single submitter tuberous sclerosis
c.2042-5A>T Single submitter hereditary neoplastic syndrome
c.210+15A>G Single submitter tuberous sclerosis 1
c.211-8A>T Single submitter tuberous sclerosis 1
c.2209-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.2209-3T>C Single submitter tuberous sclerosis
c.2209-9C>G Single submitter hereditary neoplastic syndrome
c.2391+12A>G Single submitter tuberous sclerosis 1
c.2391+1G>A Single submitter isolated focal cortical dysplasia type II ⚠
c.2392-5G>A Single submitter hereditary neoplastic syndrome
c.2502+18A>C Single submitter hereditary neoplastic syndrome
c.2502+1G>A Single submitter hereditary neoplastic syndrome ⚠
c.2502+1G>T Single submitter tuberous sclerosis 1 ⚠
c.2502+3A>G Single submitter tuberous sclerosis
c.2503-11T>A Single submitter tuberous sclerosis
c.2503-11T>G Single submitter tuberous sclerosis 1
c.2503-12T>C Single submitter tuberous sclerosis 1
c.2503-20T>G Single submitter tuberous sclerosis 1
c.2503-3T>C Single submitter tuberous sclerosis 1
c.2503-4T>G Single submitter tuberous sclerosis 1
c.2626-3C>T Single submitter hereditary neoplastic syndrome
c.2626-4_2626-3insTC Single submitter hereditary neoplastic syndrome
c.2626-4del Single submitter hereditary neoplastic syndrome
c.2626-5T>G Single submitter tuberous sclerosis 1
c.2626-6_2626-4del Single submitter isolated focal cortical dysplasia type II
c.2626-7_2626-4del Single submitter hereditary neoplastic syndrome
c.2626-9_2626-4del Single submitter tuberous sclerosis 1
c.2813+5C>T Single submitter tuberous sclerosis 1
c.2975+6A>T Single submitter tuberous sclerosis
c.2976-10T>A Single submitter tuberous sclerosis 1
c.363+668G>T Single submitter hereditary neoplastic syndrome
c.364-5T>C Single submitter hereditary neoplastic syndrome
c.509-15G>A Single submitter tuberous sclerosis 1
c.509-4C>G Single submitter hereditary neoplastic syndrome
c.509-5T>C Single submitter hereditary neoplastic syndrome
c.663+8G>A Single submitter tuberous sclerosis 1
c.664-10A>G Single submitter tuberous sclerosis
c.664-3T>C Single submitter tuberous sclerosis 1
c.664-9C>T Single submitter tuberous sclerosis 1
c.738-10C>A Single submitter hereditary neoplastic syndrome
c.913+9T>C Single submitter tuberous sclerosis 1
c.914-4T>G Single submitter hereditary neoplastic syndrome
c.-144+134G>T Single submitter tuberous sclerosis 1
c.-5A>G Single submitter hereditary neoplastic syndrome
c.-80-10T>C Single submitter hereditary neoplastic syndrome
c.-80-2A>G Single submitter hereditary neoplastic syndrome ⚠
c.*1355C>A Single submitter isolated focal cortical dysplasia type II
c.*2638C>T Single submitter isolated focal cortical dysplasia type II
c.*279T>G Single submitter isolated focal cortical dysplasia type II
c.*2904G>T Single submitter isolated focal cortical dysplasia type II
c.*295C>A Single submitter isolated focal cortical dysplasia type II
c.*3830C>T Single submitter isolated focal cortical dysplasia type II
c.*4680G>T Single submitter isolated focal cortical dysplasia type II
p.Ala1026Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala1070Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1072Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala1092Ser Single submitter isolated focal cortical dysplasia type II ⚠
p.Ala1129= Single submitter lymphangioleiomyomatosis
p.Ala1129Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala173= Single submitter isolated focal cortical dysplasia type II
p.Ala173Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala182= Single submitter hereditary neoplastic syndrome
p.Ala186Thr Single submitter isolated focal cortical dysplasia type II ⚠
p.Ala269Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala283Val Single submitter tuberous sclerosis 1 ⚠
p.Ala398Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala494Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala529Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala529Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala562Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala659Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala713Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala808Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala817Ser Single submitter tuberous sclerosis 1 ⚠
p.Ala83Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala882Thr Single submitter tuberous sclerosis 1 ⚠
p.Ala937Val Single submitter hereditary neoplastic syndrome
p.Ala944Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala944Val Single submitter tuberous sclerosis ⚠
p.Ala989Ser Single submitter TSC1-related disorder ⚠
p.Arg1022Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg1027Gln Single submitter tuberous sclerosis ⚠
p.Arg1027Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg1055Met Single submitter tuberous sclerosis 1 ⚠
p.Arg1062Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1062Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg1093Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg1097Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg160His Single submitter hereditary neoplastic syndrome ⚠
p.Arg190Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg190His Single submitter hereditary neoplastic syndrome ⚠
p.Arg204His Single submitter hereditary neoplastic syndrome ⚠
p.Arg228Gln Single submitter tuberous sclerosis 1 ⚠
p.Arg22Gln Single submitter tuberous sclerosis 1 ⚠
p.Arg22Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg245Gln Single submitter tuberous sclerosis 1 ⚠
p.Arg246Lys Single submitter tuberous sclerosis 1 ⚠
p.Arg246Met Single submitter tuberous sclerosis 1 ⚠
p.Arg249= Single submitter tuberous sclerosis 1
p.Arg284Cys Single submitter TSC1-related disorder ⚠
p.Arg284His Single submitter hereditary neoplastic syndrome ⚠
p.Arg284Leu Single submitter tuberous sclerosis ⚠
p.Arg288Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg288His Single submitter tuberous sclerosis 1 ⚠
p.Arg316Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg316Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg336Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg37Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg37His Single submitter hereditary neoplastic syndrome ⚠
p.Arg37Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg517Gln Single submitter TSC1-related disorder ⚠
p.Arg517Trp Single submitter isolated focal cortical dysplasia type II ⚠
p.Arg593= Single submitter hereditary neoplastic syndrome
p.Arg593Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg689Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg689His Single submitter hereditary neoplastic syndrome ⚠
p.Arg692Gln Single submitter lymphangioleiomyomatosis ⚠
p.Arg706His Single submitter isolated focal cortical dysplasia type II ⚠
p.Arg721Cys Single submitter hereditary neoplastic syndrome
p.Arg721His Single submitter hereditary neoplastic syndrome
p.Arg768His Single submitter hereditary neoplastic syndrome ⚠
p.Arg786Gln Single submitter tuberous sclerosis ⚠
p.Arg811Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg811Gly Single submitter isolated focal cortical dysplasia type II ⚠
p.Arg811Trp Single submitter tuberous sclerosis ⚠
p.Arg86Cys Single submitter tuberous sclerosis 1 ⚠
p.Arg885Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg908= Single submitter tuberous sclerosis
p.Arg908Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg908Trp Single submitter hereditary neoplastic syndrome
p.Asn1008Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn1008Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn1098Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn1134= Single submitter tuberous sclerosis
p.Asn1157= Single submitter hereditary neoplastic syndrome
p.Asn1157Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn532Tyr Single submitter tuberous sclerosis ⚠
p.Asn762Asp Single submitter isolated focal cortical dysplasia type II ⚠
p.Asn762Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn762Thr Single submitter hereditary neoplastic syndrome ⚠
p.Asn805Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn868Ser Single submitter tuberous sclerosis 1 ⚠
p.Asn891Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn997Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asp1002Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp1107Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp1136Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp1146Tyr Single submitter isolated focal cortical dysplasia type II ⚠
p.Asp156Ala Single submitter hereditary neoplastic syndrome ⚠
p.Asp15Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp24Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp273Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp273Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp291Asn Single submitter tuberous sclerosis ⚠
p.Asp426Tyr Single submitter tuberous sclerosis ⚠
p.Asp504Tyr Single submitter tuberous sclerosis 1 ⚠
p.Asp546Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp556Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp563Asn Single submitter tuberous sclerosis 1 ⚠
p.Asp605Asn Single submitter isolated focal cortical dysplasia type II ⚠
p.Asp650Gly Single submitter tuberous sclerosis 1 ⚠
p.Asp675Asn Single submitter tuberous sclerosis
p.Asp675His Single submitter hereditary neoplastic syndrome ⚠
p.Asp686Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp693His Single submitter hereditary neoplastic syndrome ⚠
p.Asp872His Single submitter tuberous sclerosis 1 ⚠
p.Asp903His Single submitter hereditary neoplastic syndrome
p.Asp964Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp972Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp998= Single submitter hereditary neoplastic syndrome
p.Cys1000Trp Single submitter hereditary neoplastic syndrome ⚠
p.Cys119Tyr Single submitter tuberous sclerosis 1 ⚠
p.Cys197= Single submitter hereditary neoplastic syndrome
p.Cys306Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys353= Single submitter hereditary neoplastic syndrome
p.Cys353Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys431Arg Single submitter tuberous sclerosis ⚠
p.Cys586Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys995Tyr Single submitter isolated focal cortical dysplasia type II ⚠
p.Cys996Gly Single submitter hereditary neoplastic syndrome ⚠
p.Cys996Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Gln145His Single submitter hereditary neoplastic syndrome ⚠
p.Gln149Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln280= Single submitter hereditary neoplastic syndrome
p.Gln280Arg Single submitter tuberous sclerosis 1 ⚠
p.Gln301Arg Single submitter tuberous sclerosis 1 ⚠
p.Gln325Glu Single submitter tuberous sclerosis 1 ⚠
p.Gln413Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln4Ter Single submitter hereditary neoplastic syndrome ⚠
p.Gln527Arg Single submitter tuberous sclerosis 1 ⚠
p.Gln573Lys Single submitter tuberous sclerosis 1 ⚠
p.Gln600His Single submitter hereditary neoplastic syndrome ⚠
p.Gln654Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln701= Single submitter hereditary neoplastic syndrome
p.Gln758Lys Single submitter hereditary neoplastic syndrome ⚠
p.Gln767Glu Single submitter tuberous sclerosis 1 ⚠
p.Gln792Arg Single submitter ovarian cancer ⚠
p.Gln794Lys Single submitter tuberous sclerosis 1 ⚠
p.Gln843Glu Single submitter isolated focal cortical dysplasia type II ⚠
p.Gln897Leu Single submitter hereditary neoplastic syndrome ⚠
p.Gln926Glu Single submitter hereditary neoplastic syndrome
p.Gln956Arg Single submitter tuberous sclerosis ⚠
p.Glu1010Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu1044Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu1101Asp Single submitter isolated focal cortical dysplasia type II ⚠
p.Glu1101Lys Single submitter tuberous sclerosis
p.Glu1162Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu214Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu258Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu470= Single submitter tuberous sclerosis 1
p.Glu51Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu51Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu534_Pro535delinsAspAla Single submitter tuberous sclerosis 1
p.Glu534Asp Single submitter tuberous sclerosis 1 ⚠
p.Glu625Ala Single submitter hereditary neoplastic syndrome ⚠
p.Glu705= Single submitter hereditary neoplastic syndrome
p.Glu860Lys Single submitter tuberous sclerosis 1
p.Glu889Ile Single submitter hereditary neoplastic syndrome
p.Glu889Val Single submitter tuberous sclerosis 1
p.Glu961Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu979Lys Single submitter tuberous sclerosis ⚠
p.Glu990Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu991= Single submitter hereditary neoplastic syndrome
p.Gly1006= Single submitter tuberous sclerosis 1
p.Gly1016Asp Single submitter isolated focal cortical dysplasia type II ⚠
p.Gly1031Arg Single submitter tuberous sclerosis 1 ⚠
p.Gly1035Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly1036Glu Single submitter tuberous sclerosis 1 ⚠
p.Gly1089Asp Single submitter tuberous sclerosis 1 ⚠
p.Gly1108Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly1122Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly1126Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly132Ala Single submitter hereditary neoplastic syndrome ⚠
p.Gly170Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly20Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly274Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly389Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly443Arg Single submitter tuberous sclerosis 1 ⚠
p.Gly443Val Single submitter lymphangioleiomyomatosis ⚠
p.Gly452Ala Single submitter hereditary neoplastic syndrome ⚠
p.Gly528_Glu534del Single submitter tuberous sclerosis 1
p.Gly560Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly560Ser Single submitter tuberous sclerosis ⚠
p.Gly633Arg Single submitter tuberous sclerosis 1 ⚠
p.Gly639Asp Single submitter tuberous sclerosis 1 ⚠
p.Gly639Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly680= Single submitter hereditary neoplastic syndrome
p.Gly680Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly680Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly8Ala Single submitter hereditary neoplastic syndrome ⚠
p.Gly8Arg Single submitter tuberous sclerosis 1
p.Gly999Arg Single submitter hereditary neoplastic syndrome ⚠
p.His1007Tyr Single submitter tuberous sclerosis ⚠
p.His1053Asp Single submitter hereditary neoplastic syndrome ⚠
p.His1139Gln Single submitter tuberous sclerosis 1 ⚠
p.His1139Pro Single submitter hereditary neoplastic syndrome ⚠
p.His1139Tyr Single submitter isolated focal cortical dysplasia type II ⚠
p.His1152Arg Single submitter hereditary neoplastic syndrome ⚠
p.His181Arg Single submitter tuberous sclerosis ⚠
p.His181Leu Single submitter tuberous sclerosis 1 ⚠
p.His181Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His240Gln Single submitter tuberous sclerosis ⚠
p.His287Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His371Gln Single submitter tuberous sclerosis ⚠
p.His433Arg Single submitter tuberous sclerosis 1 ⚠
p.His59= Single submitter hereditary neoplastic syndrome
p.His606Gln Single submitter tuberous sclerosis ⚠
p.His606Tyr Single submitter tuberous sclerosis 1 ⚠
p.His678Leu Single submitter hereditary neoplastic syndrome ⚠
p.His732Arg Single submitter hereditary neoplastic syndrome ⚠
p.His732Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His894Tyr Single submitter tuberous sclerosis 1 ⚠
p.Ile1074Met Single submitter hereditary neoplastic syndrome ⚠
p.Ile257= Single submitter tuberous sclerosis
p.Ile257Asn Single submitter tuberous sclerosis 1 ⚠
p.Ile473Thr Single submitter hereditary neoplastic syndrome ⚠

Benign 131

c.106+15A>G Multiple submitters tuberous sclerosis
c.107-148A>C Multiple submitters
c.1141+10T>C Multiple submitters tuberous sclerosis 1
c.1142-33A>G Multiple submitters tuberous sclerosis 1
c.1263+106G>A Multiple submitters
c.1263+315C>T Multiple submitters
c.1263+88A>G Multiple submitters tuberous sclerosis
c.1334-55C>G Multiple submitters tuberous sclerosis
c.1438+92G>T Multiple submitters
c.1439-37C>T Multiple submitters tuberous sclerosis
c.2392-35T>C Multiple submitters tuberous sclerosis 1
c.2502+131C>T Multiple submitters
c.2502+51A>G Multiple submitters tuberous sclerosis
c.2503-117G>T Multiple submitters
c.2625+68G>A Multiple submitters
c.2626-5_2626-4dup Multiple submitters lymphangioleiomyomatosis
c.2626-5T>C Multiple submitters tuberous sclerosis
c.2975+101A>G Multiple submitters
c.2976-43G>C Multiple submitters tuberous sclerosis
c.737+142T>G Multiple submitters
c.-129A>T Multiple submitters isolated focal cortical dysplasia type II
c.-144+9dup Multiple submitters hereditary neoplastic syndrome
c.-99C>T Multiple submitters isolated focal cortical dysplasia type II
c.*107T>C Multiple submitters tuberous sclerosis 1
c.*1275T>G Multiple submitters isolated focal cortical dysplasia type II
c.*1322C>T Multiple submitters isolated focal cortical dysplasia type II
c.*1372T>G Multiple submitters isolated focal cortical dysplasia type II
c.*1488C>T Multiple submitters isolated focal cortical dysplasia type II
c.*1507G>A Multiple submitters isolated focal cortical dysplasia type II
c.*1902T>G Multiple submitters isolated focal cortical dysplasia type II
c.*1934A>G Multiple submitters isolated focal cortical dysplasia type II
c.*2651G>T Multiple submitters tuberous sclerosis 1
c.*3448C>T Multiple submitters tuberous sclerosis 1
c.*3679G>A Multiple submitters tuberous sclerosis 1
c.*376C>T Multiple submitters isolated focal cortical dysplasia type II
c.*4437G>A Multiple submitters isolated focal cortical dysplasia type II
c.*913C>T Multiple submitters tuberous sclerosis 1
p.Glu445= Multiple submitters hereditary neoplastic syndrome
c.106+10del Single submitter tuberous sclerosis 1
c.1263+269del Single submitter
c.1264-191dup Single submitter
c.1264-211G>A Single submitter
c.1333+209C>T Single submitter
c.1438+164dup Single submitter
c.1438+182del Single submitter
c.1439-183C>G Single submitter
c.1439-209G>C Single submitter
c.1997+14del Single submitter tuberous sclerosis 1
c.1998-172_1998-166del Single submitter
c.2041+268A>G Single submitter
c.210+290T>C Single submitter
c.2208+171A>G Single submitter
c.2208+211G>A Single submitter
c.2503-7del Single submitter tuberous sclerosis 1
c.2625+373dup Single submitter
c.2625+572A>G Single submitter
c.2626-10_2626-4dup Single submitter hereditary neoplastic syndrome
c.2626-117G>A Single submitter
c.2626-167G>A Single submitter
c.2626-20_2626-19insTA Single submitter tuberous sclerosis 1
c.2626-20_2626-19insTC Single submitter tuberous sclerosis 1
c.2626-3_2626-2insTT Single submitter tuberous sclerosis 1
c.2626-6T>C Single submitter tuberous sclerosis 1
c.2976-14del Single submitter tuberous sclerosis 1
c.738-3259C>T Single submitter
c.914-58del Single submitter
c.914-59_914-58del Single submitter
c.914-62_914-58del Single submitter
c.914-63_914-58del Single submitter
c.-143-17A>G Single submitter
c.-68C>T Single submitter
c.*1052G>A Single submitter isolated focal cortical dysplasia type II
c.*1127C>T Single submitter isolated focal cortical dysplasia type II
c.*1468C>T Single submitter tuberous sclerosis 1
c.*1487C>T Single submitter isolated focal cortical dysplasia type II
c.*1785A>G Single submitter isolated focal cortical dysplasia type II
c.*198T>C Single submitter isolated focal cortical dysplasia type II
c.*2142T>C Single submitter tuberous sclerosis 1
c.*2168C>T Single submitter tuberous sclerosis 1
c.*2354A>G Single submitter isolated focal cortical dysplasia type II
c.*2418G>A Single submitter tuberous sclerosis 1
c.*2437G>A Single submitter
c.*2461G>A Single submitter tuberous sclerosis 1
c.*2558A>G Single submitter tuberous sclerosis 1
c.*2628G>C Single submitter tuberous sclerosis 1
c.*2708G>C Single submitter tuberous sclerosis 1
c.*2733A>G Single submitter tuberous sclerosis 1
c.*2872G>A Single submitter tuberous sclerosis 1
c.*2874G>A Single submitter tuberous sclerosis 1
c.*289del Single submitter
c.*3538A>G Single submitter tuberous sclerosis 1
c.*3729G>T Single submitter tuberous sclerosis 1
c.*3952A>G Single submitter tuberous sclerosis 1
c.*4057G>A Single submitter isolated focal cortical dysplasia type II
c.*405A>G Single submitter isolated focal cortical dysplasia type II
c.*4385G>T Single submitter isolated focal cortical dysplasia type II
c.*4763T>C Single submitter isolated focal cortical dysplasia type II
c.*4788A>C Single submitter isolated focal cortical dysplasia type II
c.*4A>G Single submitter tuberous sclerosis 1
c.*5T>A Single submitter tuberous sclerosis 1
c.*5T>C Single submitter tuberous sclerosis 1
c.*651C>G Single submitter isolated focal cortical dysplasia type II
c.*682C>T Single submitter isolated focal cortical dysplasia type II
c.*7A>G Single submitter tuberous sclerosis 1
c.*841C>T Single submitter isolated focal cortical dysplasia type II
c.*8T>C Single submitter tuberous sclerosis 1
p.Arg885= Single submitter tuberous sclerosis 1
p.Asp1136= Single submitter tuberous sclerosis 1
p.Gln711= Single submitter tuberous sclerosis 1
p.Glu766= Single submitter tuberous sclerosis 1
p.Gly464= Single submitter tuberous sclerosis 1
p.His1053Arg Single submitter tuberous sclerosis 1
p.His606= Single submitter tuberous sclerosis 1
p.Leu113= Single submitter tuberous sclerosis 1
p.Lys1099= Single submitter tuberous sclerosis 1
p.Lys1118= Single submitter tuberous sclerosis 1
p.Lys518= Single submitter tuberous sclerosis 1
p.Lys952= Single submitter tuberous sclerosis 1
p.Phe596= Single submitter tuberous sclerosis 1
p.Pro144= Single submitter tuberous sclerosis 1
p.Pro323Thr Single submitter tuberous sclerosis 1
p.Pro418= Single submitter tuberous sclerosis 1
p.Pro460= Single submitter tuberous sclerosis 1
p.Ser108= Single submitter tuberous sclerosis 1
p.Ser1102= Single submitter tuberous sclerosis 1
p.Ser208= Single submitter tuberous sclerosis 1
p.Ser427= Single submitter tuberous sclerosis 1
p.Thr294= Single submitter tuberous sclerosis 1
p.Thr798= Single submitter tuberous sclerosis 1
p.Val25= Single submitter tuberous sclerosis 1
p.Val28= Single submitter tuberous sclerosis 1

Benign/Likely benign 388

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

c.1263+6_1263+8dup Multiple submitters tuberous sclerosis 1
c.1264-12T>C Multiple submitters hereditary neoplastic syndrome
c.1264-9T>C Multiple submitters tuberous sclerosis 1
c.1333+14G>A Multiple submitters tuberous sclerosis 1
c.1333+5A>G Multiple submitters lymphangioleiomyomatosis
c.1333+9T>A Multiple submitters tuberous sclerosis 1
c.1334-16C>T Multiple submitters isolated focal cortical dysplasia type II
c.1439-4T>C Multiple submitters TSC1-related disorder
c.1998-19T>G Multiple submitters tuberous sclerosis 1
c.210+18A>G Multiple submitters tuberous sclerosis 1
c.210+33G>A Multiple submitters tuberous sclerosis 1
c.210+5T>C Multiple submitters hereditary neoplastic syndrome
c.211-11dup Multiple submitters hereditary neoplastic syndrome
c.211-15C>G Multiple submitters tuberous sclerosis 1
c.211-18G>C Multiple submitters tuberous sclerosis 1
c.211-19dup Multiple submitters tuberous sclerosis 1
c.2392-16A>G Multiple submitters tuberous sclerosis 1
c.2503-15A>T Multiple submitters tuberous sclerosis 1
c.2625+19G>A Multiple submitters tuberous sclerosis 1
c.2626-21_2626-19dup Multiple submitters tuberous sclerosis
c.2626-3dup Multiple submitters hereditary neoplastic syndrome
c.2626-4dup Multiple submitters isolated focal cortical dysplasia type II
c.2626-4T>C Multiple submitters hereditary neoplastic syndrome
c.2626-5_2626-4del Multiple submitters isolated focal cortical dysplasia type II
c.2626-7_2626-4dup Multiple submitters hereditary neoplastic syndrome
c.2814-18C>T Multiple submitters tuberous sclerosis 1
c.509-13G>A Multiple submitters tuberous sclerosis
c.737+13G>A Multiple submitters tuberous sclerosis 1
c.737+20A>G Multiple submitters tuberous sclerosis 1
c.913+8G>C Multiple submitters tuberous sclerosis 1
c.-144+7A>T Multiple submitters
c.-20C>T Multiple submitters
c.-35G>A Multiple submitters tuberous sclerosis 1
c.-7C>T Multiple submitters hereditary neoplastic syndrome
c.*2109C>T Multiple submitters isolated focal cortical dysplasia type II
c.*295C>G Multiple submitters isolated focal cortical dysplasia type II
c.*358C>T Multiple submitters isolated focal cortical dysplasia type II
c.*3988G>A Multiple submitters isolated focal cortical dysplasia type II
p.Ala1011Glu Multiple submitters hereditary neoplastic syndrome
p.Ala1070= Multiple submitters hereditary neoplastic syndrome
p.Ala1072= Multiple submitters tuberous sclerosis 1
p.Ala1092= Multiple submitters tuberous sclerosis
p.Ala110= Multiple submitters hereditary neoplastic syndrome
p.Ala186= Multiple submitters tuberous sclerosis 1
p.Ala2= Multiple submitters tuberous sclerosis 1
p.Ala269= Multiple submitters hereditary neoplastic syndrome
p.Ala290= Multiple submitters hereditary neoplastic syndrome
p.Ala307Val Multiple submitters tuberous sclerosis 1
p.Ala481= Multiple submitters hereditary neoplastic syndrome
p.Ala523= Multiple submitters hereditary neoplastic syndrome
p.Ala523Pro Multiple submitters hereditary neoplastic syndrome
p.Ala529= Multiple submitters hereditary neoplastic syndrome
p.Ala567= Multiple submitters hereditary neoplastic syndrome
p.Ala567Val Multiple submitters hereditary neoplastic syndrome
p.Ala57= Multiple submitters tuberous sclerosis 1
p.Ala611= Multiple submitters hereditary neoplastic syndrome
p.Ala616= Multiple submitters hereditary neoplastic syndrome
p.Ala631= Multiple submitters hereditary neoplastic syndrome
p.Ala659= Multiple submitters hereditary neoplastic syndrome
p.Ala659Val Multiple submitters hereditary neoplastic syndrome
p.Ala726= Multiple submitters hereditary neoplastic syndrome
p.Ala728= Multiple submitters tuberous sclerosis 1
p.Ala83= Multiple submitters tuberous sclerosis
p.Ala84= Multiple submitters hereditary neoplastic syndrome
p.Ala84Thr Multiple submitters hereditary neoplastic syndrome
p.Ala883= Multiple submitters hereditary neoplastic syndrome
p.Ala883Thr Multiple submitters tuberous sclerosis 1
p.Ala943= Multiple submitters hereditary neoplastic syndrome
p.Ala988= Multiple submitters hereditary neoplastic syndrome
p.Arg1055= Multiple submitters hereditary neoplastic syndrome
p.Arg1093= Multiple submitters hereditary neoplastic syndrome
p.Arg1097His Multiple submitters hereditary neoplastic syndrome
p.Arg336Trp Multiple submitters hereditary neoplastic syndrome
p.Arg424= Multiple submitters hereditary neoplastic syndrome
p.Arg434= Multiple submitters tuberous sclerosis
p.Arg509Gln Multiple submitters hereditary neoplastic syndrome
p.Arg517= Multiple submitters hereditary neoplastic syndrome
p.Arg570= Multiple submitters hereditary neoplastic syndrome
p.Arg709= Multiple submitters tuberous sclerosis 1
p.Arg715= Multiple submitters tuberous sclerosis 1
p.Arg717= Multiple submitters tuberous sclerosis 1
p.Arg804= Multiple submitters tuberous sclerosis 1
p.Arg811= Multiple submitters tuberous sclerosis 1
p.Arg885Trp Multiple submitters hereditary neoplastic syndrome
p.Arg968= Multiple submitters tuberous sclerosis 1
p.Asn1008= Multiple submitters tuberous sclerosis
p.Asn1015= Multiple submitters hereditary neoplastic syndrome
p.Asn198Ser Multiple submitters tuberous sclerosis ⚠
p.Asn302= Multiple submitters tuberous sclerosis 1
p.Asn43= Multiple submitters tuberous sclerosis 1
p.Asn440= Multiple submitters hereditary neoplastic syndrome
p.Asn532= Multiple submitters hereditary neoplastic syndrome
p.Asn6= Multiple submitters hereditary neoplastic syndrome
p.Asn716= Multiple submitters hereditary neoplastic syndrome
p.Asn762= Multiple submitters hereditary neoplastic syndrome
p.Asn77= Multiple submitters hereditary neoplastic syndrome
p.Asn819= Multiple submitters tuberous sclerosis 1
p.Asn837= Multiple submitters tuberous sclerosis 1
p.Asn859= Multiple submitters hereditary neoplastic syndrome
p.Asn868= Multiple submitters hereditary neoplastic syndrome
p.Asp1105= Multiple submitters tuberous sclerosis 1
p.Asp1107= Multiple submitters hereditary neoplastic syndrome
p.Asp125= Multiple submitters hereditary neoplastic syndrome
p.Asp15= Multiple submitters hereditary neoplastic syndrome
p.Asp23= Multiple submitters hereditary neoplastic syndrome
p.Asp24= Multiple submitters hereditary neoplastic syndrome
p.Asp254= Multiple submitters tuberous sclerosis
p.Asp291= Multiple submitters hereditary neoplastic syndrome
p.Asp510= Multiple submitters tuberous sclerosis 1
p.Asp510Asn Multiple submitters hereditary neoplastic syndrome
p.Asp541= Multiple submitters tuberous sclerosis 1
p.Asp650= Multiple submitters tuberous sclerosis 1
p.Asp658= Multiple submitters hereditary neoplastic syndrome
p.Asp769= Multiple submitters hereditary neoplastic syndrome
p.Asp802= Multiple submitters tuberous sclerosis 1
p.Asp920= Multiple submitters hereditary neoplastic syndrome
p.Asp932= Multiple submitters tuberous sclerosis
p.Asp972= Multiple submitters tuberous sclerosis 1
p.Asp994= Multiple submitters hereditary neoplastic syndrome
p.Cys559= Multiple submitters tuberous sclerosis 1
p.Cys572= Multiple submitters hereditary neoplastic syndrome
p.Gln109= Multiple submitters hereditary neoplastic syndrome
p.Gln149= Multiple submitters hereditary neoplastic syndrome
p.Gln325= Multiple submitters tuberous sclerosis 1
p.Gln4= Multiple submitters tuberous sclerosis
p.Gln413= Multiple submitters hereditary neoplastic syndrome
p.Gln435= Multiple submitters tuberous sclerosis 1
p.Gln550Glu Multiple submitters hereditary neoplastic syndrome
p.Gln65= Multiple submitters tuberous sclerosis 1
p.Gln781= Multiple submitters hereditary neoplastic syndrome
p.Gln792= Multiple submitters hereditary neoplastic syndrome
p.Gln794= Multiple submitters tuberous sclerosis 1
p.Gln833= Multiple submitters hereditary neoplastic syndrome
p.Gln844= Multiple submitters tuberous sclerosis 1
p.Gln897= Multiple submitters tuberous sclerosis 1
p.Gln900= Multiple submitters hereditary neoplastic syndrome
p.Gln906= Multiple submitters hereditary neoplastic syndrome
p.Gln926= Multiple submitters hereditary neoplastic syndrome
p.Gln936= Multiple submitters tuberous sclerosis 1
p.Gln956= Multiple submitters tuberous sclerosis 1
p.Glu1044= Multiple submitters tuberous sclerosis 1
p.Glu1064= Multiple submitters tuberous sclerosis 1
p.Glu1069= Multiple submitters hereditary neoplastic syndrome
p.Glu1094= Multiple submitters lymphangioleiomyomatosis
p.Glu1101= Multiple submitters hereditary neoplastic syndrome
p.Glu174= Multiple submitters tuberous sclerosis 1
p.Glu211= Multiple submitters tuberous sclerosis 1
p.Glu217= Multiple submitters hereditary neoplastic syndrome
p.Glu225= Multiple submitters hereditary neoplastic syndrome
p.Glu232= Multiple submitters tuberous sclerosis
p.Glu258= Multiple submitters tuberous sclerosis 1
p.Glu272= Multiple submitters tuberous sclerosis 1
p.Glu340= Multiple submitters tuberous sclerosis 1
p.Glu446= Multiple submitters hereditary neoplastic syndrome
p.Glu469= Multiple submitters hereditary neoplastic syndrome
p.Glu478= Multiple submitters hereditary neoplastic syndrome
p.Glu488= Multiple submitters tuberous sclerosis 1
p.Glu571= Multiple submitters tuberous sclerosis 1
p.Glu626= Multiple submitters hereditary neoplastic syndrome
p.Glu66= Multiple submitters tuberous sclerosis 1
p.Glu809Gln Multiple submitters hereditary neoplastic syndrome
p.Glu825= Multiple submitters tuberous sclerosis 1
p.Glu857= Multiple submitters tuberous sclerosis 1
p.Glu860= Multiple submitters tuberous sclerosis 1
p.Glu889= Multiple submitters hereditary neoplastic syndrome
p.Glu961= Multiple submitters tuberous sclerosis 1
p.Glu970= Multiple submitters tuberous sclerosis 1
p.Glu980= Multiple submitters hereditary neoplastic syndrome
p.Gly1057Ser Multiple submitters hereditary neoplastic syndrome
p.Gly1079= Multiple submitters tuberous sclerosis
p.Gly1089Ala Multiple submitters tuberous sclerosis ⚠
p.Gly1108= Multiple submitters lymphangioleiomyomatosis
p.Gly159= Multiple submitters hereditary neoplastic syndrome
p.Gly20= Multiple submitters hereditary neoplastic syndrome
p.Gly305= Multiple submitters isolated focal cortical dysplasia type II
p.Gly38= Multiple submitters hereditary neoplastic syndrome
p.Gly389= Multiple submitters tuberous sclerosis
p.Gly443= Multiple submitters tuberous sclerosis 1
p.Gly461= Multiple submitters tuberous sclerosis 1
p.Gly501= Multiple submitters tuberous sclerosis
p.Gly502= Multiple submitters hereditary neoplastic syndrome
p.Gly544Glu Multiple submitters hereditary neoplastic syndrome
p.Gly560= Multiple submitters tuberous sclerosis 1
p.Gly568= Multiple submitters tuberous sclerosis 1
p.Gly599Arg Multiple submitters hereditary neoplastic syndrome
p.Gly639= Multiple submitters tuberous sclerosis 1
p.Gly967= Multiple submitters hereditary neoplastic syndrome
p.Gly999= Multiple submitters tuberous sclerosis 1
p.His1014= Multiple submitters tuberous sclerosis
p.His1053= Multiple submitters tuberous sclerosis 1
p.His1163= Multiple submitters hereditary neoplastic syndrome
p.His171= Multiple submitters tuberous sclerosis
p.His206= Multiple submitters hereditary neoplastic syndrome
p.His240= Multiple submitters hereditary neoplastic syndrome
p.His371= Multiple submitters hereditary neoplastic syndrome
p.His402= Multiple submitters hereditary neoplastic syndrome
p.His408= Multiple submitters hereditary neoplastic syndrome
p.His520= Multiple submitters tuberous sclerosis 1
p.His537= Multiple submitters hereditary neoplastic syndrome
p.His59Leu Multiple submitters hereditary neoplastic syndrome
p.His617= Multiple submitters hereditary neoplastic syndrome
p.His678= Multiple submitters tuberous sclerosis 1
p.His712= Multiple submitters hereditary neoplastic syndrome
p.His732= Multiple submitters tuberous sclerosis
p.His894= Multiple submitters tuberous sclerosis
p.His915= Multiple submitters hereditary neoplastic syndrome
p.His95= Multiple submitters tuberous sclerosis 1
p.Ile1153= Multiple submitters tuberous sclerosis 1
p.Ile262= Multiple submitters hereditary neoplastic syndrome
p.Ile489= Multiple submitters hereditary neoplastic syndrome
p.Ile60= Multiple submitters tuberous sclerosis 1
p.Ile621= Multiple submitters tuberous sclerosis 1
p.Ile688= Multiple submitters hereditary neoplastic syndrome
p.Ile724= Multiple submitters hereditary neoplastic syndrome
p.Leu1045= Multiple submitters tuberous sclerosis 1
p.Leu1045Val Multiple submitters tuberous sclerosis
p.Leu1081= Multiple submitters hereditary neoplastic syndrome
p.Leu11= Multiple submitters tuberous sclerosis
p.Leu1125= Multiple submitters hereditary neoplastic syndrome
p.Leu1135= Multiple submitters hereditary neoplastic syndrome
p.Leu117= Multiple submitters tuberous sclerosis 1
p.Leu177= Multiple submitters hereditary neoplastic syndrome
p.Leu180= Multiple submitters hereditary neoplastic syndrome
p.Leu187= Multiple submitters hereditary neoplastic syndrome
p.Leu213= Multiple submitters hereditary neoplastic syndrome
p.Leu319= Multiple submitters hereditary neoplastic syndrome
p.Leu320= Multiple submitters hereditary neoplastic syndrome
p.Leu400= Multiple submitters hereditary neoplastic syndrome
p.Leu411= Multiple submitters tuberous sclerosis
p.Leu432= Multiple submitters hereditary neoplastic syndrome
p.Leu45= Multiple submitters hereditary neoplastic syndrome
p.Leu456= Multiple submitters tuberous sclerosis
p.Leu512= Multiple submitters hereditary neoplastic syndrome
p.Leu557= Multiple submitters hereditary neoplastic syndrome
p.Leu576= Multiple submitters lymphangioleiomyomatosis
p.Leu61= Multiple submitters hereditary neoplastic syndrome
p.Leu627= Multiple submitters tuberous sclerosis
p.Leu628= Multiple submitters hereditary neoplastic syndrome
p.Leu698= Multiple submitters hereditary neoplastic syndrome
p.Leu703= Multiple submitters tuberous sclerosis 1
p.Leu729= Multiple submitters hereditary neoplastic syndrome
p.Leu73= Multiple submitters hereditary neoplastic syndrome
p.Leu740= Multiple submitters hereditary neoplastic syndrome
p.Leu742= Multiple submitters tuberous sclerosis 1
p.Leu775= Multiple submitters tuberous sclerosis 1
p.Leu848= Multiple submitters hereditary neoplastic syndrome
p.Leu855= Multiple submitters hereditary neoplastic syndrome
p.Leu888= Multiple submitters tuberous sclerosis 1
p.Leu90= Multiple submitters tuberous sclerosis
p.Leu916= Multiple submitters hereditary neoplastic syndrome
p.Leu922= Multiple submitters hereditary neoplastic syndrome
p.Leu924= Multiple submitters tuberous sclerosis
p.Leu960= Multiple submitters tuberous sclerosis
p.Leu99= Multiple submitters tuberous sclerosis 1
p.Lys106= Multiple submitters tuberous sclerosis 1
p.Lys1091= Multiple submitters tuberous sclerosis 1
p.Lys148= Multiple submitters hereditary neoplastic syndrome
p.Lys261Arg Multiple submitters hereditary neoplastic syndrome
p.Lys30= Multiple submitters hereditary neoplastic syndrome
p.Lys542= Multiple submitters tuberous sclerosis
p.Lys623= Multiple submitters hereditary neoplastic syndrome
p.Lys630= Multiple submitters hereditary neoplastic syndrome
p.Lys630Gln Multiple submitters hereditary neoplastic syndrome
p.Lys745= Multiple submitters tuberous sclerosis 1
p.Lys756= Multiple submitters hereditary neoplastic syndrome
p.Lys774= Multiple submitters tuberous sclerosis 1
p.Lys816= Multiple submitters tuberous sclerosis 1
p.Lys869= Multiple submitters tuberous sclerosis 1
p.Lys886= Multiple submitters hereditary neoplastic syndrome
p.Met209Val Multiple submitters tuberous sclerosis 1
p.Met322Thr Multiple submitters tuberous sclerosis 1
p.Met425Val Multiple submitters hereditary neoplastic syndrome
p.Met646Val Multiple submitters hereditary neoplastic syndrome
p.Phe1059= Multiple submitters tuberous sclerosis 1
p.Phe29= Multiple submitters hereditary neoplastic syndrome
p.Phe958= Multiple submitters hereditary neoplastic syndrome
p.Pro101= Multiple submitters tuberous sclerosis
p.Pro1021= Multiple submitters tuberous sclerosis 1
p.Pro1023= Multiple submitters hereditary neoplastic syndrome
p.Pro1075= Multiple submitters hereditary neoplastic syndrome
p.Pro1132= Multiple submitters tuberous sclerosis
p.Pro1138= Multiple submitters hereditary neoplastic syndrome
p.Pro114= Multiple submitters tuberous sclerosis 1
p.Pro1140= Multiple submitters tuberous sclerosis
p.Pro1140Leu Multiple submitters hereditary neoplastic syndrome
p.Pro1143= Multiple submitters hereditary neoplastic syndrome
p.Pro141= Multiple submitters tuberous sclerosis 1
p.Pro231= Multiple submitters tuberous sclerosis 1
p.Pro266= Multiple submitters tuberous sclerosis 1
p.Pro323= Multiple submitters hereditary neoplastic syndrome
p.Pro333Ser Multiple submitters hereditary neoplastic syndrome
p.Pro366Leu Multiple submitters hereditary neoplastic syndrome
p.Pro372= Multiple submitters hereditary neoplastic syndrome
p.Pro397= Multiple submitters tuberous sclerosis 1
p.Pro412= Multiple submitters tuberous sclerosis 1
p.Pro448= Multiple submitters hereditary neoplastic syndrome
p.Pro448Ser Multiple submitters hereditary neoplastic syndrome
p.Pro496= Multiple submitters tuberous sclerosis 1
p.Pro545= Multiple submitters tuberous sclerosis
p.Pro558= Multiple submitters hereditary neoplastic syndrome

Likely benign 1017

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

c.1029+10C>T Multiple submitters tuberous sclerosis 1
c.1029+8G>A Multiple submitters tuberous sclerosis 1
c.1030-20G>T Multiple submitters tuberous sclerosis 1
c.106+8A>G Multiple submitters tuberous sclerosis 1
c.107-6A>G Multiple submitters tuberous sclerosis 1
c.107-7_107-3dup Multiple submitters tuberous sclerosis 1
c.107-7G>A Multiple submitters tuberous sclerosis 1
c.1142-16del Multiple submitters tuberous sclerosis 1
c.1142-17C>T Multiple submitters tuberous sclerosis 1
c.1142-22_1142-21del Multiple submitters tuberous sclerosis
c.1263+10A>G Multiple submitters tuberous sclerosis 1
c.1263+15G>A Multiple submitters tuberous sclerosis 1
c.1263+8C>T Multiple submitters tuberous sclerosis 1
c.1263+9C>T Multiple submitters tuberous sclerosis 1
c.1264-10A>G Multiple submitters tuberous sclerosis 1
c.1264-10del Multiple submitters tuberous sclerosis 1
c.1264-17G>T Multiple submitters tuberous sclerosis 1
c.1264-6T>C Multiple submitters tuberous sclerosis 1
c.1333+7T>A Multiple submitters tuberous sclerosis 1
c.1333+7T>G Multiple submitters tuberous sclerosis 1
c.1438+8A>G Multiple submitters tuberous sclerosis 1
c.1438+9T>C Multiple submitters tuberous sclerosis 1
c.1439-11C>T Multiple submitters tuberous sclerosis 1
c.1439-13C>T Multiple submitters tuberous sclerosis 1
c.1997+9C>G Multiple submitters tuberous sclerosis 1
c.1997+9C>T Multiple submitters tuberous sclerosis 1
c.1998-11dup Multiple submitters tuberous sclerosis 1
c.1998-14A>C Multiple submitters tuberous sclerosis 1
c.1998-19T>C Multiple submitters tuberous sclerosis 1
c.1998-20C>T Multiple submitters tuberous sclerosis 1
c.1998-4C>T Multiple submitters hereditary neoplastic syndrome
c.2041+10T>C Multiple submitters tuberous sclerosis 1
c.2041+6_2041+7dup Multiple submitters tuberous sclerosis 1
c.2042-14dup Multiple submitters tuberous sclerosis 1
c.2042-19C>T Multiple submitters tuberous sclerosis 1
c.210+13A>G Multiple submitters tuberous sclerosis 1
c.210+16T>G Multiple submitters tuberous sclerosis 1
c.210+7G>T Multiple submitters tuberous sclerosis 1
c.211-10del Multiple submitters tuberous sclerosis
c.211-11T>C Multiple submitters tuberous sclerosis
c.211-12T>C Multiple submitters tuberous sclerosis 1
c.211-157G>A Multiple submitters
c.211-16T>G Multiple submitters tuberous sclerosis 1
c.211-17T>C Multiple submitters tuberous sclerosis 1
c.211-4T>G Multiple submitters hereditary neoplastic syndrome
c.211-8A>G Multiple submitters tuberous sclerosis 1
c.2208+17G>A Multiple submitters tuberous sclerosis 1
c.2208+7A>G Multiple submitters tuberous sclerosis 1
c.2209-11G>T Multiple submitters tuberous sclerosis 1
c.2209-14C>T Multiple submitters tuberous sclerosis 1
c.2209-18A>C Multiple submitters tuberous sclerosis 1
c.2209-20A>G Multiple submitters tuberous sclerosis 1
c.2209-20A>T Multiple submitters tuberous sclerosis 1
c.2209-5G>C Multiple submitters tuberous sclerosis 1
c.2391+10G>T Multiple submitters tuberous sclerosis 1
c.2391+14C>T Multiple submitters tuberous sclerosis 1
c.2391+17C>T Multiple submitters tuberous sclerosis 1
c.2391+20G>A Multiple submitters tuberous sclerosis 1
c.2391+34G>A Multiple submitters
c.2392-12C>T Multiple submitters tuberous sclerosis 1
c.2392-13T>A Multiple submitters tuberous sclerosis 1
c.2392-13T>C Multiple submitters tuberous sclerosis
c.2392-14G>A Multiple submitters tuberous sclerosis
c.2392-15C>T Multiple submitters tuberous sclerosis
c.2392-17C>T Multiple submitters tuberous sclerosis 1
c.2392-20G>A Multiple submitters tuberous sclerosis 1
c.2392-20G>T Multiple submitters tuberous sclerosis 1
c.2392-7T>C Multiple submitters tuberous sclerosis
c.2392-8_2392-7del Multiple submitters isolated focal cortical dysplasia type II
c.2502+8_2502+10del Multiple submitters tuberous sclerosis 1
c.2503-13G>A Multiple submitters tuberous sclerosis 1
c.2503-15A>G Multiple submitters tuberous sclerosis 1
c.2503-16C>T Multiple submitters tuberous sclerosis 1
c.2503-19G>A Multiple submitters tuberous sclerosis 1
c.2503-20T>C Multiple submitters tuberous sclerosis 1
c.2503-4T>C Multiple submitters hereditary neoplastic syndrome
c.2625+15G>A Multiple submitters tuberous sclerosis 1
c.2625+9G>A Multiple submitters tuberous sclerosis 1
c.2625+9G>C Multiple submitters tuberous sclerosis 1
c.2625+9G>T Multiple submitters tuberous sclerosis 1
c.2626-3_2626-2insT Multiple submitters tuberous sclerosis
c.2626-4_2626-3insTTC Multiple submitters tuberous sclerosis 1
c.2626-6_2626-5insTC Multiple submitters tuberous sclerosis
c.2626-8_2626-4del Multiple submitters tuberous sclerosis 1
c.2626-8_2626-4dup Multiple submitters hereditary neoplastic syndrome
c.2814-11G>A Multiple submitters tuberous sclerosis
c.2814-13C>T Multiple submitters tuberous sclerosis 1
c.2814-17T>C Multiple submitters tuberous sclerosis 1
c.2814-19G>A Multiple submitters tuberous sclerosis 1
c.2814-7C>T Multiple submitters tuberous sclerosis 1
c.2814-9A>G Multiple submitters tuberous sclerosis
c.2975+127G>T Multiple submitters
c.2975+4G>C Multiple submitters hereditary neoplastic syndrome
c.2976-14C>T Multiple submitters tuberous sclerosis
c.2976-15C>T Multiple submitters tuberous sclerosis 1
c.2976-16C>T Multiple submitters tuberous sclerosis 1
c.2976-17C>T Multiple submitters tuberous sclerosis 1
c.2976-18T>C Multiple submitters tuberous sclerosis 1
c.2976-4dup Multiple submitters tuberous sclerosis
c.2976-7C>T Multiple submitters tuberous sclerosis 1
c.364-13dup Multiple submitters tuberous sclerosis 1
c.364-13T>C Multiple submitters tuberous sclerosis 1
c.364-14C>T Multiple submitters tuberous sclerosis 1
c.364-15C>T Multiple submitters tuberous sclerosis
c.364-16A>G Multiple submitters tuberous sclerosis 1
c.364-4G>A Multiple submitters hereditary neoplastic syndrome
c.364-6C>T Multiple submitters tuberous sclerosis
c.364-7C>T Multiple submitters tuberous sclerosis
c.508+18T>C Multiple submitters tuberous sclerosis 1
c.508+7A>T Multiple submitters tuberous sclerosis 1
c.508+99T>C Multiple submitters
c.508+9C>A Multiple submitters tuberous sclerosis 1
c.509-10C>T Multiple submitters tuberous sclerosis
c.509-13G>T Multiple submitters tuberous sclerosis 1
c.509-14G>T Multiple submitters tuberous sclerosis
c.509-15G>C Multiple submitters tuberous sclerosis 1
c.509-16C>T Multiple submitters tuberous sclerosis 1
c.509-18A>G Multiple submitters tuberous sclerosis 1
c.509-9C>G Multiple submitters tuberous sclerosis 1
c.509-9del Multiple submitters tuberous sclerosis 1
c.663+18G>A Multiple submitters tuberous sclerosis 1
c.663+9A>G Multiple submitters tuberous sclerosis 1
c.664-10A>C Multiple submitters tuberous sclerosis 1
c.664-11A>T Multiple submitters tuberous sclerosis 1
c.664-4C>G Multiple submitters hereditary neoplastic syndrome
c.737+10C>T Multiple submitters tuberous sclerosis 1
c.737+6G>A Multiple submitters tuberous sclerosis 1
c.738-11G>A Multiple submitters tuberous sclerosis 1
c.738-15C>T Multiple submitters tuberous sclerosis 1
c.738-16T>C Multiple submitters tuberous sclerosis 1
c.738-20A>G Multiple submitters tuberous sclerosis 1
c.738-9A>G Multiple submitters tuberous sclerosis 1
c.913+10G>A Multiple submitters tuberous sclerosis 1
c.913+8G>A Multiple submitters tuberous sclerosis 1
c.913+9T>A Multiple submitters tuberous sclerosis 1
c.914-10T>C Multiple submitters tuberous sclerosis 1
c.914-11T>C Multiple submitters tuberous sclerosis 1
c.914-16T>C Multiple submitters tuberous sclerosis 1
c.914-20G>C Multiple submitters tuberous sclerosis 1
c.914-7A>G Multiple submitters tuberous sclerosis 1
c.-10G>A Multiple submitters tuberous sclerosis 1
c.-11C>T Multiple submitters tuberous sclerosis
c.-16G>A Multiple submitters tuberous sclerosis 1
c.-17C>T Multiple submitters tuberous sclerosis 1
p.Ala1026Ser Multiple submitters hereditary neoplastic syndrome
p.Ala27= Multiple submitters hereditary neoplastic syndrome
p.Ala307= Multiple submitters hereditary neoplastic syndrome
p.Ala344= Multiple submitters hereditary neoplastic syndrome
p.Ala494= Multiple submitters tuberous sclerosis
p.Ala562= Multiple submitters tuberous sclerosis 1
p.Ala713= Multiple submitters hereditary neoplastic syndrome
p.Ala727= Multiple submitters tuberous sclerosis 1
p.Ala759= Multiple submitters hereditary neoplastic syndrome
p.Ala808= Multiple submitters hereditary neoplastic syndrome
p.Ala882= Multiple submitters hereditary neoplastic syndrome
p.Ala944= Multiple submitters tuberous sclerosis 1
p.Ala986= Multiple submitters tuberous sclerosis 1
p.Arg1062= Multiple submitters tuberous sclerosis 1
p.Arg284= Multiple submitters tuberous sclerosis 1
p.Arg336= Multiple submitters hereditary neoplastic syndrome
p.Arg706= Multiple submitters hereditary neoplastic syndrome
p.Arg786= Multiple submitters tuberous sclerosis 1
p.Arg901= Multiple submitters hereditary neoplastic syndrome
p.Asn32= Multiple submitters hereditary neoplastic syndrome
p.Asn791= Multiple submitters tuberous sclerosis 1
p.Asp1124= Multiple submitters tuberous sclerosis
p.Asp273= Multiple submitters hereditary neoplastic syndrome
p.Asp441= Multiple submitters hereditary neoplastic syndrome
p.Asp556= Multiple submitters hereditary neoplastic syndrome
p.Asp638= Multiple submitters hereditary neoplastic syndrome
p.Asp74= Multiple submitters tuberous sclerosis 1
p.Asp872= Multiple submitters tuberous sclerosis 1
p.Cys1000= Multiple submitters hereditary neoplastic syndrome
p.Cys165= Multiple submitters hereditary neoplastic syndrome
p.Cys306= Multiple submitters hereditary neoplastic syndrome
p.Cys586= Multiple submitters tuberous sclerosis 1
p.Gln3= Multiple submitters hereditary neoplastic syndrome
p.Gln301= Multiple submitters hereditary neoplastic syndrome
p.Gln328= Multiple submitters hereditary neoplastic syndrome
p.Gln739= Multiple submitters tuberous sclerosis 1
p.Gln783= Multiple submitters hereditary neoplastic syndrome
p.Gln867= Multiple submitters hereditary neoplastic syndrome
p.Gln951= Multiple submitters hereditary neoplastic syndrome
p.Glu1009= Multiple submitters hereditary neoplastic syndrome
p.Glu1010= Multiple submitters tuberous sclerosis 1
p.Glu1106= Multiple submitters tuberous sclerosis
p.Glu214= Multiple submitters tuberous sclerosis 1
p.Glu423= Multiple submitters tuberous sclerosis 1
p.Glu446Asp Multiple submitters hereditary neoplastic syndrome
p.Glu493= Multiple submitters tuberous sclerosis 1
p.Glu787= Multiple submitters hereditary neoplastic syndrome
p.Glu876= Multiple submitters tuberous sclerosis 1
p.Glu913= Multiple submitters tuberous sclerosis 1
p.Gly1013= Multiple submitters hereditary neoplastic syndrome
p.Gly1034= Multiple submitters hereditary neoplastic syndrome
p.Gly1035= Multiple submitters hereditary neoplastic syndrome
p.Gly1126= Multiple submitters hereditary neoplastic syndrome
p.Gly1137= Multiple submitters hereditary neoplastic syndrome
p.Gly132= Multiple submitters tuberous sclerosis 1
p.Gly449= Multiple submitters hereditary neoplastic syndrome
p.Gly599= Multiple submitters tuberous sclerosis 1
p.Gly81= Multiple submitters hereditary neoplastic syndrome
p.Gly973= Multiple submitters hereditary neoplastic syndrome
p.His1139= Multiple submitters hereditary neoplastic syndrome
p.His1152= Multiple submitters tuberous sclerosis
p.His1160= Multiple submitters tuberous sclerosis 1
p.His1161= Multiple submitters hereditary neoplastic syndrome
p.His181= Multiple submitters tuberous sclerosis 1
p.His189= Multiple submitters hereditary neoplastic syndrome
p.His230= Multiple submitters tuberous sclerosis 1
p.His253= Multiple submitters hereditary neoplastic syndrome
p.His433= Multiple submitters hereditary neoplastic syndrome
p.His71= Multiple submitters hereditary neoplastic syndrome
p.His71Gln Multiple submitters hereditary neoplastic syndrome
p.Ile580Val Multiple submitters hereditary neoplastic syndrome
p.Ile747= Multiple submitters tuberous sclerosis 1
p.Ile807= Multiple submitters hereditary neoplastic syndrome
p.Leu107= Multiple submitters hereditary neoplastic syndrome
p.Leu1117= Multiple submitters tuberous sclerosis 1
p.Leu120= Multiple submitters tuberous sclerosis 1
p.Leu161= Multiple submitters tuberous sclerosis 1
p.Leu19= Multiple submitters hereditary neoplastic syndrome
p.Leu191= Multiple submitters tuberous sclerosis 1
p.Leu242= Multiple submitters hereditary neoplastic syndrome
p.Leu326= Multiple submitters hereditary neoplastic syndrome
p.Leu33= Multiple submitters hereditary neoplastic syndrome
p.Leu337= Multiple submitters hereditary neoplastic syndrome
p.Leu369= Multiple submitters tuberous sclerosis 1
p.Leu543= Multiple submitters hereditary neoplastic syndrome
p.Leu612= Multiple submitters hereditary neoplastic syndrome
p.Leu649= Multiple submitters tuberous sclerosis 1
p.Leu764= Multiple submitters hereditary neoplastic syndrome
p.Leu852= Multiple submitters hereditary neoplastic syndrome
p.Leu861= Multiple submitters hereditary neoplastic syndrome
p.Leu863= Multiple submitters hereditary neoplastic syndrome
p.Leu866= Multiple submitters tuberous sclerosis 1
p.Leu92= Multiple submitters hereditary neoplastic syndrome
p.Leu930= Multiple submitters tuberous sclerosis 1
p.Leu935= Multiple submitters hereditary neoplastic syndrome
p.Leu969= Multiple submitters tuberous sclerosis
p.Leu975= Multiple submitters hereditary neoplastic syndrome
p.Leu993= Multiple submitters tuberous sclerosis 1
p.Lys238= Multiple submitters tuberous sclerosis 1
p.Lys384= Multiple submitters hereditary neoplastic syndrome
p.Lys549= Multiple submitters hereditary neoplastic syndrome
p.Lys662= Multiple submitters hereditary neoplastic syndrome
p.Lys672= Multiple submitters hereditary neoplastic syndrome
p.Lys741= Multiple submitters hereditary neoplastic syndrome
p.Phe1087= Multiple submitters hereditary neoplastic syndrome
p.Phe188= Multiple submitters tuberous sclerosis 1
p.Phe679= Multiple submitters tuberous sclerosis 1
p.Phe789= Multiple submitters tuberous sclerosis 1
p.Pro1048= Multiple submitters hereditary neoplastic syndrome
p.Pro1145= Multiple submitters hereditary neoplastic syndrome
p.Pro17= Multiple submitters hereditary neoplastic syndrome
p.Pro296= Multiple submitters hereditary neoplastic syndrome
p.Pro387= Multiple submitters hereditary neoplastic syndrome
p.Pro399= Multiple submitters hereditary neoplastic syndrome
p.Pro506= Multiple submitters tuberous sclerosis 1
p.Pro589= Multiple submitters hereditary neoplastic syndrome
p.Pro601= Multiple submitters hereditary neoplastic syndrome
p.Pro645= Multiple submitters hereditary neoplastic syndrome
p.Ser1012Thr Multiple submitters hereditary neoplastic syndrome
p.Ser1024= Multiple submitters tuberous sclerosis 1
p.Ser1038= Multiple submitters hereditary neoplastic syndrome
p.Ser1042= Multiple submitters hereditary neoplastic syndrome
p.Ser1042_Ser1043dup Multiple submitters hereditary neoplastic syndrome
p.Ser1071= Multiple submitters hereditary neoplastic syndrome
p.Ser1102Thr Multiple submitters tuberous sclerosis
p.Ser263= Multiple submitters tuberous sclerosis 1
p.Ser282= Multiple submitters tuberous sclerosis 1
p.Ser289= Multiple submitters hereditary neoplastic syndrome
p.Ser370= Multiple submitters tuberous sclerosis
p.Ser403= Multiple submitters hereditary neoplastic syndrome
p.Ser410= Multiple submitters hereditary neoplastic syndrome
p.Ser453= Multiple submitters tuberous sclerosis 1
p.Ser487= Multiple submitters hereditary neoplastic syndrome
p.Ser539= Multiple submitters hereditary neoplastic syndrome
p.Ser565= Multiple submitters hereditary neoplastic syndrome
p.Ser579= Multiple submitters hereditary neoplastic syndrome
p.Ser642= Multiple submitters tuberous sclerosis
p.Thr1066= Multiple submitters hereditary neoplastic syndrome
p.Thr1119= Multiple submitters hereditary neoplastic syndrome
p.Thr1159Ser Multiple submitters hereditary neoplastic syndrome
p.Thr124= Multiple submitters hereditary neoplastic syndrome
p.Thr267= Multiple submitters hereditary neoplastic syndrome
p.Thr415= Multiple submitters hereditary neoplastic syndrome
p.Thr415Ile Multiple submitters tuberous sclerosis 1
p.Thr44= Multiple submitters tuberous sclerosis 1
p.Thr63= Multiple submitters hereditary neoplastic syndrome
p.Thr677= Multiple submitters tuberous sclerosis 1
p.Tyr207= Multiple submitters hereditary neoplastic syndrome
p.Tyr49= Multiple submitters hereditary neoplastic syndrome
p.Tyr79= Multiple submitters tuberous sclerosis 1
p.Tyr966= Multiple submitters hereditary neoplastic syndrome
p.Val1005= Multiple submitters tuberous sclerosis 1
p.Val184= Multiple submitters hereditary neoplastic syndrome
p.Val200= Multiple submitters tuberous sclerosis
p.Val227= Multiple submitters tuberous sclerosis
p.Val454= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 2201

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

c.1029+4T>C Multiple submitters tuberous sclerosis
c.1029+5G>A Multiple submitters tuberous sclerosis
c.1030-3C>T Multiple submitters hereditary neoplastic syndrome
c.1030-5C>G Multiple submitters isolated focal cortical dysplasia type II
c.1141+4T>C Multiple submitters hereditary neoplastic syndrome
c.1263+5G>A Multiple submitters tuberous sclerosis 1
c.1264-3C>T Multiple submitters hereditary neoplastic syndrome
c.1334-3C>T Multiple submitters hereditary neoplastic syndrome
c.1997+3A>C Multiple submitters hereditary neoplastic syndrome
c.1997+3A>G Multiple submitters tuberous sclerosis 1
c.1997+4A>G Multiple submitters tuberous sclerosis 1
c.1997+6G>A Multiple submitters isolated focal cortical dysplasia type II
c.211-3C>T Multiple submitters hereditary neoplastic syndrome
c.2392-6G>A Multiple submitters hereditary neoplastic syndrome
c.2624_2625+3dup Multiple submitters hereditary neoplastic syndrome
c.2625+4T>G Multiple submitters hereditary neoplastic syndrome
c.2975+1G>A Multiple submitters tuberous sclerosis 1
c.2975+5G>T Multiple submitters hereditary neoplastic syndrome
c.2976-13G>A Multiple submitters tuberous sclerosis
c.2976-2A>G Multiple submitters hereditary neoplastic syndrome
c.363+3_363+18del Multiple submitters lymphangioleiomyomatosis
c.509-5T>G Multiple submitters hereditary neoplastic syndrome
c.737+4T>C Multiple submitters isolated focal cortical dysplasia type II
c.914-3T>C Multiple submitters hereditary neoplastic syndrome
c.-144G>A Multiple submitters tuberous sclerosis 1
c.-214C>T Multiple submitters tuberous sclerosis 1
c.-234-1616_-234-235del1382 Multiple submitters hereditary neoplastic syndrome
p.Ala1026Phe Multiple submitters hereditary neoplastic syndrome
p.Ala1070Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala1092Gly Multiple submitters hereditary neoplastic syndrome
p.Ala1092Pro Multiple submitters tuberous sclerosis 1 ⚠
p.Ala1092Thr Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Ala110Val Multiple submitters tuberous sclerosis 1 ⚠
p.Ala173Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala182Thr Multiple submitters tuberous sclerosis 1 ⚠
p.Ala186Pro Multiple submitters tuberous sclerosis 1 ⚠
p.Ala186Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala186Val Multiple submitters tuberous sclerosis 1 ⚠
p.Ala260Val Multiple submitters tuberous sclerosis 1 ⚠
p.Ala27Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Ala298Thr Multiple submitters tuberous sclerosis 1 ⚠
p.Ala2Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala344Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Ala428Leu Multiple submitters hereditary neoplastic syndrome
p.Ala428Pro Multiple submitters tuberous sclerosis 1 ⚠
p.Ala428Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala480Val Multiple submitters tuberous sclerosis 1 ⚠
p.Ala492Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala494Val Multiple submitters tuberous sclerosis ⚠
p.Ala522Pro Multiple submitters tuberous sclerosis ⚠
p.Ala522Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala523Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala529Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala529Val Multiple submitters tuberous sclerosis 1 ⚠
p.Ala5Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala616Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala631Thr Multiple submitters tuberous sclerosis 1 ⚠
p.Ala728Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala759Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala759Thr Multiple submitters tuberous sclerosis 1 ⚠
p.Ala759Val Multiple submitters tuberous sclerosis 1 ⚠
p.Ala817Val Multiple submitters tuberous sclerosis 1
p.Ala83Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala83Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala84Ser Multiple submitters tuberous sclerosis 1 ⚠
p.Ala917Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala944Ser Multiple submitters tuberous sclerosis ⚠
p.Ala950Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala950Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala983Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Ala985Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala988Val Multiple submitters tuberous sclerosis 1 ⚠
p.Ala989Val Multiple submitters tuberous sclerosis 1 ⚠
p.Arg1022fs Multiple submitters tuberous sclerosis
p.Arg1027Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1027Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1055Thr Multiple submitters tuberous sclerosis 1 ⚠
p.Arg1093Leu Multiple submitters tuberous sclerosis 1 ⚠
p.Arg1093Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg1093Ter Multiple submitters hereditary neoplastic syndrome
p.Arg1097Leu Multiple submitters tuberous sclerosis 1 ⚠
p.Arg160Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg22Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg249Ile Multiple submitters tuberous sclerosis 1 ⚠
p.Arg284Pro Multiple submitters tuberous sclerosis 1 ⚠
p.Arg284Ser Multiple submitters tuberous sclerosis 1 ⚠
p.Arg316Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg424Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg429Thr Multiple submitters tuberous sclerosis 1 ⚠
p.Arg442Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Arg484Thr Multiple submitters tuberous sclerosis 1 ⚠
p.Arg570Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg689Leu Multiple submitters tuberous sclerosis 1 ⚠
p.Arg689Pro Multiple submitters isolated focal cortical dysplasia type II
p.Arg692Pro Multiple submitters tuberous sclerosis 1 ⚠
p.Arg706Cys Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Arg706Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg715Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg715Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg715Trp Multiple submitters tuberous sclerosis ⚠
p.Arg718Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg718Trp Multiple submitters tuberous sclerosis 1 ⚠
p.Arg721Gly Multiple submitters hereditary neoplastic syndrome
p.Arg721Pro Multiple submitters tuberous sclerosis ⚠
p.Arg768Cys Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Arg780Lys Multiple submitters tuberous sclerosis ⚠
p.Arg786Gly Multiple submitters tuberous sclerosis 1
p.Arg786Leu Multiple submitters tuberous sclerosis 1 ⚠
p.Arg850Lys Multiple submitters tuberous sclerosis 1
p.Arg86His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg938Ile Multiple submitters tuberous sclerosis 1 ⚠
p.Arg938Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg938Ser Multiple submitters tuberous sclerosis 1 ⚠
p.Arg947Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg947Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Arg947Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg968Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Arg98Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Asn1015Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Asn1015Ser Multiple submitters tuberous sclerosis ⚠
p.Asn1098His Multiple submitters tuberous sclerosis 1 ⚠
p.Asn1134His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn1157Ser Multiple submitters tuberous sclerosis 1 ⚠
p.Asn32Ser Multiple submitters tuberous sclerosis ⚠
p.Asn34Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn34Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn364Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn440Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn665Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn6Asp Multiple submitters lymphangioleiomyomatosis ⚠
p.Asn716Ser Multiple submitters tuberous sclerosis 1 ⚠
p.Asn733Ser Multiple submitters tuberous sclerosis 1
p.Asn77Asp Multiple submitters tuberous sclerosis 1
p.Asn791Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn818Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn818Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn818Ser Multiple submitters tuberous sclerosis 1 ⚠
p.Asn819del Multiple submitters tuberous sclerosis 1
p.Asn859Ser Multiple submitters hereditary neoplastic syndrome
p.Asn868Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1107Glu Multiple submitters tuberous sclerosis 1 ⚠
p.Asp1136Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp1146Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp123Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Asp153Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp254Asn Multiple submitters tuberous sclerosis 1 ⚠
p.Asp273Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp299Asn Multiple submitters tuberous sclerosis 1 ⚠
p.Asp36Gly Multiple submitters tuberous sclerosis ⚠
p.Asp36His Multiple submitters tuberous sclerosis 1 ⚠
p.Asp36Val Multiple submitters tuberous sclerosis 1 ⚠
p.Asp404Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp404Val Multiple submitters tuberous sclerosis ⚠
p.Asp426_Ser427delinsAla Multiple submitters hereditary neoplastic syndrome
p.Asp458His Multiple submitters tuberous sclerosis 1 ⚠
p.Asp471Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp476Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp556Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp569Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Asp605Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Asp650Asn Multiple submitters tuberous sclerosis ⚠
p.Asp658Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp675Tyr Multiple submitters tuberous sclerosis ⚠
p.Asp686Asn Multiple submitters tuberous sclerosis 1 ⚠
p.Asp693Asn Multiple submitters tuberous sclerosis 1 ⚠
p.Asp69Gly Multiple submitters tuberous sclerosis ⚠
p.Asp738Val Multiple submitters tuberous sclerosis 1 ⚠
p.Asp746Tyr Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Asp74Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp74Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp872Asn Multiple submitters tuberous sclerosis 1 ⚠
p.Asp872Tyr Multiple submitters hereditary neoplastic syndrome
p.Asp932Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp932Glu Multiple submitters hereditary neoplastic syndrome
p.Asp964Val Multiple submitters tuberous sclerosis 1 ⚠
p.Asp994His Multiple submitters tuberous sclerosis 1 ⚠
p.Cys1000Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys1104Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys119Phe Multiple submitters hereditary neoplastic syndrome
p.Cys259Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys306Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys353_Gly354insTyr Multiple submitters hereditary neoplastic syndrome
p.Cys401Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys803Gly Multiple submitters lymphangioleiomyomatosis ⚠
p.Cys996Ser Multiple submitters tuberous sclerosis 1 ⚠
p.Gln1054Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln109Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln109Glu Multiple submitters tuberous sclerosis 1 ⚠
p.Gln145Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln280His Multiple submitters lymphangioleiomyomatosis ⚠
p.Gln301Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln325Arg Multiple submitters tuberous sclerosis ⚠
p.Gln325His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln343Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln413Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln413Leu Multiple submitters tuberous sclerosis ⚠
p.Gln413Pro Multiple submitters tuberous sclerosis 1 ⚠
p.Gln435Arg Multiple submitters tuberous sclerosis ⚠
p.Gln435Glu Multiple submitters tuberous sclerosis 1 ⚠
p.Gln435His Multiple submitters tuberous sclerosis 1 ⚠
p.Gln4Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln527His Multiple submitters tuberous sclerosis ⚠
p.Gln527Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln550Leu Multiple submitters tuberous sclerosis 1 ⚠
p.Gln573Glu Multiple submitters tuberous sclerosis 1 ⚠
p.Gln573Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln654Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln701Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln711Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln739Glu Multiple submitters tuberous sclerosis 1 ⚠
p.Gln743Arg Multiple submitters tuberous sclerosis 1 ⚠
p.Gln758Glu Multiple submitters tuberous sclerosis 1 ⚠
p.Gln767Arg Multiple submitters tuberous sclerosis 1 ⚠
p.Gln778Leu Multiple submitters hereditary neoplastic syndrome
p.Gln797His Multiple submitters lymphangioleiomyomatosis ⚠
p.Gln797Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Gln833Arg Multiple submitters tuberous sclerosis 1 ⚠
p.Gln898Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Gln900Glu Multiple submitters tuberous sclerosis 1 ⚠
p.Gln900His Multiple submitters hereditary neoplastic syndrome
p.Gln906Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln926His Multiple submitters tuberous sclerosis 1 ⚠
p.Gln936Arg Multiple submitters tuberous sclerosis 1 ⚠
p.Gln940Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln942Glu Multiple submitters tuberous sclerosis 1 ⚠
p.Gln956Leu Multiple submitters tuberous sclerosis ⚠
p.Glu1009Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Glu1017Gly Multiple submitters tuberous sclerosis ⚠
p.Glu1017Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1049Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1049Gly Multiple submitters tuberous sclerosis ⚠
p.Glu1064Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1069Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1094Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1094Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1106Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu1115Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu214Asp Multiple submitters tuberous sclerosis ⚠
p.Glu218Asp Multiple submitters tuberous sclerosis ⚠
p.Glu241Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu31Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu31Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu422Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu423Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu469Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu478Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu479del Multiple submitters tuberous sclerosis
p.Glu485Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu488Gln Multiple submitters tuberous sclerosis ⚠
p.Glu495Lys Multiple submitters tuberous sclerosis ⚠
p.Glu534Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu534Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Glu564Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Glu571Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Glu577Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu609Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu625Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu626Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Glu636Gln Multiple submitters tuberous sclerosis 1 ⚠
p.Glu663Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu731Lys Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Glu766Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu787Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu787Lys Multiple submitters tuberous sclerosis 1
p.Glu78Gln Multiple submitters tuberous sclerosis 1
p.Glu801Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Glu809Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu813Gly Multiple submitters hereditary neoplastic syndrome
p.Glu839Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Glu876Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu887Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu889Lys Multiple submitters tuberous sclerosis 1
p.Glu925Lys Multiple submitters tuberous sclerosis ⚠
p.Glu931Gln Multiple submitters hereditary neoplastic syndrome
p.Glu961Gln Multiple submitters tuberous sclerosis ⚠
p.Glu970Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu970Lys Multiple submitters tuberous sclerosis 1 ⚠
p.Glu980Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu981del Multiple submitters tuberous sclerosis
p.Glu981Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu987Gly Multiple submitters tuberous sclerosis 1 ⚠
p.Glu990Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu991Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu9Ala Multiple submitters tuberous sclerosis 1 ⚠
p.Gly1016Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1016Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1028Asp Multiple submitters tuberous sclerosis 1 ⚠
p.Gly1031Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1034Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1034Val Multiple submitters tuberous sclerosis 1 ⚠
p.Gly1035Asp Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Gly1036Arg Multiple submitters tuberous sclerosis ⚠
p.Gly1036Lys Multiple submitters tuberous sclerosis 1
p.Gly1037dup Multiple submitters hereditary neoplastic syndrome
p.Gly1037Ser Multiple submitters isolated focal cortical dysplasia type II ⚠
p.Gly1057Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1068Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1089fs Multiple submitters TSC1-related disorder
p.Gly1122Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly1137Asp Multiple submitters tuberous sclerosis 1 ⚠