Sugi Variant

Sugi Variant/BAP1

BAP1 — 3217 ClinVar variants

All ClinVar germline BAP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1434 flagged for review →

269 Pathogenic · 26 Pathogenic/Likely pathogenic · 89 Likely pathogenic · 358 Conflicting · 50 Benign · 233 Benign/Likely benign · 858 Likely benign · 1334 Uncertain significance

Full BAP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1434

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 2

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

Predictors agree, ClinVar conflicts 179

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 179

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.

Predictors lean, ClinVar uncertain 759

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 759

Predictors split 486

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 486

All BAP1 variants

Pathogenic 269

  • c.122+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1729+1del Multiple submitters hereditary neoplastic syndrome
  • c.1729+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.437+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.438-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.581-2A>G Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala258delinsTyrTer Multiple submitters hereditary neoplastic syndrome
  • p.Arg146fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg207fs Multiple submitters hereditary neoplastic syndrome
  • p.Arg385Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Arg518fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Arg60Ter Multiple submitters hereditary neoplastic syndrome
  • p.Asn363fs Multiple submitters hereditary neoplastic syndrome
  • p.Asn504fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp400_Tyr401insTer Multiple submitters hereditary neoplastic syndrome
  • p.Asp494fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Cys320fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln253fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln260Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln267fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln277fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln280fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln355Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln36Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln392Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln393fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln410Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln441Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln593Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln665Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln684Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu198Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu31fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu454fs Multiple submitters hereditary neoplastic syndrome
  • p.Glu566Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu605fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu640Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ile214fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu17fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu180_Phe181insTer Multiple submitters hereditary neoplastic syndrome
  • p.Leu459fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu564fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu573fs Multiple submitters BAP1 Cancer Syndrome
  • p.Lys155Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys275fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys286fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys453fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys659Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Met1Val Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Met615fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Met80fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe22fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro153fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro391fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro484fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro522fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser319Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser460Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser492fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser571fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser596fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser628fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr254fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Thr266Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp202Ter Multiple submitters Kury-Isidor syndrome
  • p.Trp5Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr173fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Tyr241Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr394Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr401_Glu405delinsTer Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Tyr401Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr418Ter Multiple submitters hereditary neoplastic syndrome
  • p.Tyr646Ter Multiple submitters hereditary neoplastic syndrome
  • p.Val171fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val209fs Multiple submitters hereditary neoplastic syndrome
  • p.Val27fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val335_Val336insTer Multiple submitters hereditary neoplastic syndrome
  • p.Val550fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val639fs Multiple submitters hereditary neoplastic syndrome
  • c.1116+1G>C Single submitter hereditary neoplastic syndrome
  • c.123-1G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.123-1G>T Single submitter hereditary neoplastic syndrome
  • c.1729+1dup Single submitter BAP1-related tumor predisposition syndrome
  • c.1730-1G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.376_377delAG Single submitter hereditary neoplastic syndrome
  • c.38-1G>T Single submitter BAP1-related tumor predisposition syndrome
  • c.580+2T>C Single submitter BAP1-related tumor predisposition syndrome
  • c.580+43_769del Single submitter BAP1-related tumor predisposition syndrome
  • c.581-1G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.659+1G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.659+1G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.659+2T>C Single submitter BAP1-related tumor predisposition syndrome
  • c.659+2T>G Single submitter BAP1-related tumor predisposition syndrome
  • c.67+2T>C Single submitter BAP1-related tumor predisposition syndrome
  • c.783+1del Single submitter BAP1-related tumor predisposition syndrome
  • c.932-8_960del Single submitter uveal melanoma
  • p.Ala138fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala243fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala258fs Single submitter hereditary neoplastic syndrome
  • p.Ala316fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala428fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala471fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala634fs Single submitter hereditary neoplastic syndrome
  • p.Arg300fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Arg385fs Single submitter hereditary neoplastic syndrome
  • p.Arg508fs Single submitter hereditary neoplastic syndrome
  • p.Arg551fs Single submitter hereditary neoplastic syndrome
  • p.Arg57fs Single submitter hereditary neoplastic syndrome
  • p.Arg59fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Arg59Pro Single submitter neurodevelopmental disorder ⚠
  • p.Arg617_Pro618insArgArgGlyTrpTer Single submitter BAP1-related tumor predisposition syndrome
  • p.Arg617fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asn102fs Single submitter hereditary neoplastic syndrome
  • p.Asn344fs Single submitter hereditary neoplastic syndrome
  • p.Asn365_Tyr366insTer Single submitter BAP1-related tumor predisposition syndrome
  • p.Asn515fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asn645_Tyr646insTer Single submitter BAP1-related tumor predisposition syndrome
  • p.Asn645fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp107fs Single submitter hereditary neoplastic syndrome
  • p.Asp184fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp199fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp204fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp236fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp34fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp396fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp404Ter Single submitter
  • p.Asp408fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp458fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Asp552delinsAlaTer Single submitter hereditary neoplastic syndrome
  • p.Asp68fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Cys91Ser Single submitter neurodevelopmental disorder
  • p.Gln261Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Gln272Ter Single submitter hereditary neoplastic syndrome
  • p.Gln393Ter Single submitter hereditary neoplastic syndrome
  • p.Gln40fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Gln436Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Gln456fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Gln590Ter Single submitter
  • p.Gln593fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Gln85Ter Single submitter hereditary neoplastic syndrome
  • p.Glu125= Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu136Ter Single submitter hereditary neoplastic syndrome
  • p.Glu182Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu20fs Single submitter hereditary neoplastic syndrome
  • p.Glu212Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu269Ter Single submitter hereditary neoplastic syndrome
  • p.Glu278fs Single submitter hereditary neoplastic syndrome
  • p.Glu283Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu284fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu30fs Single submitter hereditary neoplastic syndrome
  • p.Glu405Ter Single submitter hereditary neoplastic syndrome
  • p.Glu491fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu55fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu577Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu605Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu611fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu631Ter Single submitter hereditary neoplastic syndrome
  • p.Glu647fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu653fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu673Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly109Ter Single submitter hereditary neoplastic syndrome
  • p.Gly128Arg Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly185_Leu186insTer Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly215fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly220fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly312fs Single submitter hereditary neoplastic syndrome
  • p.Gly380fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly424fs Single submitter hereditary neoplastic syndrome
  • p.Gly45Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly4fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly554fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly591fs Single submitter hereditary neoplastic syndrome
  • p.Gly594fs Single submitter hereditary neoplastic syndrome
  • p.His141fs Single submitter hereditary neoplastic syndrome
  • p.His151fs Single submitter BAP1-related tumor predisposition syndrome
  • p.His347fs Single submitter BAP1-related tumor predisposition syndrome
  • p.His481fs Single submitter hereditary neoplastic syndrome
  • p.His84fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ile176fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ile191fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ile461fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ile589fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ile662fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ile679fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ile72fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ile87fs Single submitter hereditary neoplastic syndrome
  • p.Leu112fs Single submitter hereditary neoplastic syndrome
  • p.Leu281fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Leu622fs Single submitter hereditary neoplastic syndrome
  • p.Leu650fs Single submitter hereditary neoplastic syndrome
  • p.Lys120fs Single submitter hereditary neoplastic syndrome
  • p.Lys155fs Single submitter hereditary neoplastic syndrome
  • p.Lys240Ter Single submitter hereditary neoplastic syndrome
  • p.Lys291fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys331fs Single submitter
  • p.Lys368_Ser369insTer Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys38fs Single submitter hereditary neoplastic syndrome
  • p.Lys38Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys529fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys601Ter Single submitter hereditary neoplastic syndrome
  • p.Lys612fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys61Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys626fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys656fs Single submitter hereditary neoplastic syndrome
  • p.Lys658fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Met1Arg Single submitter hereditary neoplastic syndrome
  • p.Met1Thr Single submitter hereditary neoplastic syndrome
  • p.Met371fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Met681fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Phe15fs Single submitter hereditary neoplastic syndrome
  • p.Phe22Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Phe532fs Single submitter hereditary neoplastic syndrome
  • p.Pro135fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro293fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro387fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro42fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro462fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro506fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro598fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro88fs Single submitter hereditary neoplastic syndrome
  • p.Ser123fs Single submitter hereditary neoplastic syndrome
  • p.Ser279Ter Single submitter hereditary neoplastic syndrome
  • p.Ser325fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser341fs Single submitter hereditary neoplastic syndrome
  • p.Ser395fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser438fs Single submitter
  • p.Ser438Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser460fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser473fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser485fs Single submitter hereditary neoplastic syndrome
  • p.Ser505fs Single submitter hereditary neoplastic syndrome
  • p.Ser505Ter Single submitter
  • p.Ser509Ter Single submitter hereditary neoplastic syndrome
  • p.Ser582fs Single submitter hereditary neoplastic syndrome
  • p.Ser58fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser597fs Single submitter hereditary neoplastic syndrome
  • p.Ser628Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser63fs Single submitter hereditary neoplastic syndrome
  • p.Ser90fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser98fs Single submitter hereditary neoplastic syndrome
  • p.Thr423fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Thr480fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Thr487fs Single submitter
  • p.Thr493fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Thr495fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Thr64fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Thr69fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Trp196Ter Single submitter hereditary neoplastic syndrome
  • p.Trp202_Thr203delinsCysSer Single submitter BAP1-related tumor predisposition syndrome
  • p.Trp52Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Tyr173Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Tyr223Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Tyr241fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Tyr366Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Tyr44fs Single submitter
  • p.Tyr44Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Tyr546Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr627_Ser628delinsTer Single submitter hereditary neoplastic syndrome
  • p.Tyr646fs Single submitter
  • p.Tyr671Ter Single submitter hereditary neoplastic syndrome
  • p.Val174fs Single submitter hereditary neoplastic syndrome
  • p.Val346fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Val409fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Val43_Tyr44insTer Single submitter
  • p.Val616fs Single submitter hereditary neoplastic syndrome
  • p.Asp552fs No assertion criteria BAP1-related tumor predisposition syndrome
  • p.Gln436fs No assertion criteria BAP1-related tumor predisposition syndrome
  • p.Pro12Thr No assertion criteria Kury-Isidor syndrome
  • p.Pro222fs No assertion criteria BAP1-related disorder

Pathogenic/Likely pathogenic 26

  • c.122+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.122+5G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1730-1G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1730-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.37+1G>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.375+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.38-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.437+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.437+1G>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.581-1G>T Multiple submitters hereditary neoplastic syndrome
  • c.660-2A>G Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala92Val Multiple submitters Kury-Isidor syndrome
  • p.Gln253Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln267Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln40Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu198fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu570Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met1Ile Multiple submitters hereditary neoplastic syndrome
  • p.Ser319fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser395Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser623fs Multiple submitters hereditary neoplastic syndrome
  • p.Thr273fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Trp202Arg Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Tyr671fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val43fs Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val530fs Multiple submitters BAP1-related tumor predisposition syndrome

Likely pathogenic 89

  • c.1117-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.122+5G>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.123-10_129del Multiple submitters hereditary neoplastic syndrome
  • c.1251-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1251-1G>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1251-2A>G Multiple submitters hereditary neoplastic syndrome
  • c.1984-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1984-3_1999del Multiple submitters BAP1-related tumor predisposition syndrome
  • c.2056+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.2056+1G>C Multiple submitters hereditary neoplastic syndrome
  • c.2057-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.256-2A>C Multiple submitters hereditary neoplastic syndrome
  • c.256-2A>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.438-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.659+1del Multiple submitters hereditary neoplastic syndrome
  • c.659+3A>C Multiple submitters hereditary neoplastic syndrome
  • c.67+1G>T Multiple submitters hereditary neoplastic syndrome
  • c.68-1G>C Multiple submitters hereditary neoplastic syndrome
  • c.68-2A>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.783+1G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.931+1G>A Multiple submitters hereditary neoplastic syndrome
  • c.932-2A>G Multiple submitters hereditary neoplastic syndrome
  • p.Arg146Thr Multiple submitters astrocytoma (excluding glioblastoma) ⚠
  • p.Asn229Lys Multiple submitters Kury-Isidor syndrome
  • p.Gly45Arg Multiple submitters hereditary neoplastic syndrome
  • p.Met1Leu Multiple submitters hereditary neoplastic syndrome
  • c.1116+1G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.1117-2A>G Single submitter BAP1-related tumor predisposition syndrome
  • c.122+1del Single submitter BAP1-related tumor predisposition syndrome
  • c.123-2A>G Single submitter hereditary neoplastic syndrome
  • c.1890+2T>C Single submitter BAP1-related tumor predisposition syndrome
  • c.1983+1G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.1984-2A>G Single submitter BAP1-related tumor predisposition syndrome
  • c.1984-2A>T Single submitter BAP1-related tumor predisposition syndrome
  • c.2057-2A>G Single submitter hereditary neoplastic syndrome
  • c.249_255+15delinsAGACC Single submitter hereditary neoplastic syndrome
  • c.254_255+15del Single submitter BAP1-related tumor predisposition syndrome
  • c.37+1G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.375_375+3delinsACC Single submitter hereditary neoplastic syndrome
  • c.375+1G>T Single submitter BAP1-related tumor predisposition syndrome
  • c.375+2T>A Single submitter BAP1-related tumor predisposition syndrome
  • c.375+2T>C Single submitter hereditary neoplastic syndrome
  • c.376-1G>A Single submitter hereditary neoplastic syndrome
  • c.376-1G>C Single submitter hereditary neoplastic syndrome
  • c.376-2A>G Single submitter BAP1-related tumor predisposition syndrome
  • c.38-1G>C Single submitter hereditary neoplastic syndrome
  • c.438-1G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.580+1G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.580+1G>T Single submitter hereditary neoplastic syndrome
  • c.581-4_599del Single submitter BAP1-related tumor predisposition syndrome
  • c.59_67+1del Single submitter hereditary neoplastic syndrome
  • c.659+1G>T Single submitter hereditary neoplastic syndrome
  • c.660-74_667del Single submitter BAP1-related tumor predisposition syndrome
  • c.67+1del Single submitter BAP1-related tumor predisposition syndrome
  • c.67+1G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.68-1G>A Single submitter hereditary neoplastic syndrome
  • c.68-2_68-1insTTCCTTTCCTTGACACCTTAAC Single submitter hereditary neoplastic syndrome
  • c.68-2A>C Single submitter BAP1-related tumor predisposition syndrome
  • c.745_783+57delinsTGG Single submitter hereditary neoplastic syndrome
  • c.784-2A>T Single submitter hereditary neoplastic syndrome
  • c.932-1G>T Single submitter BAP1-related tumor predisposition syndrome
  • c.932-2_933del Single submitter
  • c.932-8_934del Single submitter BAP1-related tumor predisposition syndrome
  • c.*644del Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala502fs Single submitter
  • p.Arg150_Thr177del Single submitter hereditary neoplastic syndrome
  • p.Arg60fs Single submitter hereditary neoplastic syndrome
  • p.Asn229His Single submitter Kury-Isidor syndrome
  • p.Asp11His Single submitter hereditary neoplastic syndrome
  • p.Cys649fs Single submitter hereditary neoplastic syndrome
  • p.Cys91fs Single submitter
  • p.Cys91Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu125Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu284Ter Single submitter Kury-Isidor syndrome
  • p.Glu402Ter Single submitter BAP1-related tumor predisposition syndrome
  • p.His141Tyr Single submitter hereditary neoplastic syndrome
  • p.His169Gln Single submitter hereditary neoplastic syndrome
  • p.Leu180Pro Single submitter hereditary neoplastic syndrome
  • p.Leu49Pro Single submitter neurodevelopmental disorder
  • p.Lys120Ter Single submitter
  • p.Phe170fs Single submitter
  • p.Pro12Ala Single submitter neurodevelopmental disorder
  • p.Pro332fs Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser10Gly Single submitter Kury-Isidor syndrome
  • p.Ser489fs Single submitter
  • p.Ter730Arg Single submitter hereditary neoplastic syndrome
  • p.Trp196fs Single submitter
  • p.Trp202Cys Single submitter hereditary neoplastic syndrome
  • p.Ser596Thr No assertion criteria plasma cell myeloma ⚠

Conflicting classifications of pathogenicity 358

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

  • c.1117-5C>A Single submitter BAP1-related tumor predisposition syndrome
  • c.1117-5C>T Single submitter BAP1-related tumor predisposition syndrome
  • c.123-10C>A Single submitter BAP1-related tumor predisposition syndrome
  • c.123-3C>T Single submitter hereditary neoplastic syndrome
  • c.1250+3C>T Single submitter hereditary neoplastic syndrome
  • c.1250+6C>T Single submitter BAP1-related tumor predisposition syndrome
  • c.1251-11G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.1251-3C>T Single submitter BAP1-related tumor predisposition syndrome
  • c.1251-4A>G Single submitter hereditary neoplastic syndrome
  • c.1251-6C>A Single submitter hereditary neoplastic syndrome
  • c.1251-8C>A Single submitter hereditary neoplastic syndrome
  • c.1251-8C>T Single submitter hereditary neoplastic syndrome
  • c.1251-9G>T Single submitter hereditary neoplastic syndrome
  • c.1729+3G>A Single submitter hereditary neoplastic syndrome
  • c.1729+6C>T Single submitter BAP1-related tumor predisposition syndrome
  • c.1730-13C>T Single submitter BAP1-related tumor predisposition syndrome
  • c.1891-17A>G Single submitter BAP1-related tumor predisposition syndrome
  • c.1891-1G>A Single submitter BAP1-related tumor predisposition syndrome ⚠
  • c.1983+4G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.2056+3G>A Single submitter hereditary neoplastic syndrome
  • c.2057-10C>T Single submitter hereditary neoplastic syndrome
  • c.2057-4G>A Single submitter hereditary neoplastic syndrome
  • c.2057-4G>T Single submitter hereditary neoplastic syndrome
  • c.2057-5C>G Single submitter BAP1-related tumor predisposition syndrome
  • c.255+1G>A Single submitter BAP1-related tumor predisposition syndrome ⚠
  • c.255+1G>T Single submitter BAP1-related tumor predisposition syndrome ⚠
  • c.256-3C>A Single submitter hereditary neoplastic syndrome
  • c.37+3G>A Single submitter hereditary neoplastic syndrome
  • c.376-11C>G Single submitter BAP1-related tumor predisposition syndrome
  • c.376-7C>G Single submitter BAP1-related tumor predisposition syndrome
  • c.38-13T>A Single submitter hereditary neoplastic syndrome
  • c.38-13T>C Single submitter hereditary neoplastic syndrome
  • c.38-2A>G Single submitter hereditary neoplastic syndrome ⚠
  • c.38-3C>T Single submitter hereditary neoplastic syndrome
  • c.38-7del Single submitter hereditary neoplastic syndrome
  • c.438-18_438-15del Single submitter BAP1-related tumor predisposition syndrome
  • c.438-6dup Single submitter hereditary neoplastic syndrome
  • c.438-7T>C Single submitter hereditary neoplastic syndrome
  • c.581-4C>T Single submitter hereditary neoplastic syndrome
  • c.581-5A>G Single submitter hereditary neoplastic syndrome
  • c.581-6C>T Single submitter hereditary neoplastic syndrome
  • c.659+6G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.660-10G>A Single submitter hereditary neoplastic syndrome
  • c.660-4G>A Single submitter hereditary neoplastic syndrome
  • c.67+5G>C Single submitter hereditary neoplastic syndrome
  • c.68-4G>A Single submitter hereditary neoplastic syndrome
  • c.783+11T>C Single submitter BAP1-related tumor predisposition syndrome
  • c.783+2T>C Single submitter hereditary neoplastic syndrome ⚠
  • c.783+4_783+13del Single submitter hereditary neoplastic syndrome
  • c.931+7G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.932-10C>G Single submitter hereditary neoplastic syndrome
  • c.932-151G>A Single submitter hereditary neoplastic syndrome
  • c.932-17T>C Single submitter BAP1-related tumor predisposition syndrome
  • c.932-2A>T Single submitter hereditary neoplastic syndrome ⚠
  • c.-15C>T Single submitter hereditary neoplastic syndrome
  • c.*3A>G Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala217Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala303Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala303Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala313Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala316Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala316Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala321Ser Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ala321Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala428Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala428Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala449Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala449Thr Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ala471Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala574Val Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ala644Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg114Cys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg114His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg114Pro Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg150Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg150His Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg163Trp Single submitter melanoma, uveal, susceptibility to, 2 ⚠
  • p.Arg179Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg179Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg237Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg252Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg252His Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg264Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg356Gln Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg356Trp Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg383Cys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg385Gly Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg389Cys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg389His Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg508Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg512His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg518Trp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg545His Single submitter BAP1-related disorder ⚠
  • p.Arg548Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg548His Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg551Cys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg551His Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg57Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg59Gln Single submitter Kury-Isidor syndrome ⚠
  • p.Arg60Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg699= Single submitter hereditary neoplastic syndrome
  • p.Arg699Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg699Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg699Trp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg701Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg708Trp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg717Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg718Trp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg720His Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Arg722His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg728Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn102Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn299Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn2Lys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Asn330Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn344His Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn344Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn349Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn411Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn413Thr Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Asn443Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn446Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn446Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn446Thr Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Asn504Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn645Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp192= Single submitter hereditary neoplastic syndrome
  • p.Asp225= Single submitter melanoma, uveal, susceptibility to, 2
  • p.Asp34Glu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Asp399Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp403Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp403Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp404Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp404Glu Single submitter melanoma, uveal, susceptibility to, 2 ⚠
  • p.Asp407Asn Single submitter BAP1-related disorder ⚠
  • p.Asp408Glu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Asp664fs Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp672Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp672Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp74= Single submitter BAP1-related tumor predisposition syndrome
  • p.Cys638Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Cys649= Single submitter hereditary neoplastic syndrome
  • p.Cys649Tyr Single submitter Hereditary cancer ⚠
  • p.Cys91Arg Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Cys91Gly Single submitter Paediatric disorders ⚠
  • p.Gln253Lys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Gln260Arg Single submitter BAP1-related disorder ⚠
  • p.Gln261Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln277Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln280Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln372= Single submitter BAP1-related tumor predisposition syndrome
  • p.Gln393His Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Gln40His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln590Leu Single submitter Hereditary cancer ⚠
  • p.Gln593Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln712= Single submitter hereditary neoplastic syndrome
  • p.Gln729His Single submitter hereditary neoplastic syndrome ⚠
  • p.Gln729Ter Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu269Gly Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Glu278Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu297Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu306Lys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Glu315Ala Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Glu31Lys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Glu373= Single submitter hereditary neoplastic syndrome
  • p.Glu405_Asp408del Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu405Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu406Ala Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Glu406Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu406del Single submitter hereditary neoplastic syndrome
  • p.Glu406Lys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Glu406Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu54= Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu577= Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu602Asp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Glu602del Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu611Asp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Glu620Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu625Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Glu642Asp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Gly185Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly197Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly345= Single submitter hereditary neoplastic syndrome
  • p.Gly380= Single submitter hereditary neoplastic syndrome
  • p.Gly380Asp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Gly380Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly41= Single submitter hereditary neoplastic syndrome
  • p.Gly41Ala Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Gly41Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly427Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly431Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly431Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly431Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly470Ala Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Gly470Arg Single submitter Hereditary cancer ⚠
  • p.Gly500Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly554Ala Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Gly554Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly560Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly579Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly581Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly594Ala Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Gly614= Single submitter hereditary neoplastic syndrome
  • p.His141Arg Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.His169Arg Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.His224del Single submitter BAP1-related tumor predisposition syndrome
  • p.His246Arg Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.His246Asp Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.His274Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.His326Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.His347Asp Single submitter hereditary neoplastic syndrome ⚠
  • p.His347Gln Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.His347Pro Single submitter hereditary neoplastic syndrome ⚠
  • p.His347Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.His481Arg Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.His481Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.His563Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.His669Tyr Single submitter BAP1-related disorder ⚠
  • p.His84Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.His94Arg Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ile176Val Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ile191Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile353Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile445Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile465= Single submitter hereditary neoplastic syndrome
  • p.Ile465Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile47Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile499Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile511Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile511Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile557Val Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ile643Thr Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ile76Thr Single submitter Hereditary cancer ⚠
  • p.Ile76Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu100Pro Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Leu152Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu159Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu539Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Leu636= Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys120Glu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Lys249Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys25Arg Single submitter Kury-Isidor syndrome ⚠
  • p.Lys451Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys451del Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys453Arg Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Lys601_Glu602delinsGluVal Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys601Glu Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys61= Single submitter BAP1-related tumor predisposition syndrome
  • p.Lys651Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Lys725= Single submitter hereditary neoplastic syndrome
  • p.Met211Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Met615Leu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Met615Val Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Phe22= Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro135Leu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Pro175Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro175Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro222Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro282Leu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Pro293Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro302Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro328Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro332Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro348Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro358Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro390Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro390Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro426Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro42Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro462Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro474Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro484Ser Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Pro516Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro519Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro555Leu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Pro555Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro572Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro584His Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro588Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro598Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro598Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro618Ala Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Pro618Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro621Thr Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ser105Arg Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser285Thr Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ser287Leu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ser292Cys Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ser292Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser341Thr Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ser369Tyr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser430= Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser438Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser460Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser482= Single submitter hereditary neoplastic syndrome
  • p.Ser482Leu Single submitter BAP1-related tumor predisposition syndrome ⚠
  • p.Ser520= Single submitter hereditary neoplastic syndrome
  • p.Ser528Phe Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser537Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser571Asn Single submitter BAP1-related tumor predisposition syndrome ⚠

Benign 50

  • c.255+136C>G Multiple submitters
  • c.*45C>G Multiple submitters
  • c.*573G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser596Gly Multiple submitters BAP1-related tumor predisposition syndrome
  • c.123-48T>G Single submitter
  • c.123-4C>T Single submitter hereditary neoplastic syndrome
  • c.123-5C>T Single submitter hereditary neoplastic syndrome
  • c.1891-3C>T Single submitter hereditary neoplastic syndrome
  • c.1983+20del Single submitter BAP1-related tumor predisposition syndrome
  • c.37+44G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.438-3del Single submitter BAP1-related tumor predisposition syndrome
  • c.438-7del Single submitter BAP1-related tumor predisposition syndrome
  • c.581-5A>C Single submitter hereditary neoplastic syndrome
  • c.67+13del Single submitter BAP1-related tumor predisposition syndrome
  • c.*1164G>C Single submitter BAP1-related tumor predisposition syndrome
  • c.*2G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.*300A>G Single submitter BAP1-related tumor predisposition syndrome
  • c.*385A>T Single submitter BAP1-related tumor predisposition syndrome
  • c.*643G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.*974C>T Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala301Ser Single submitter hereditary neoplastic syndrome
  • p.Ala303= Single submitter BAP1-related tumor predisposition syndrome
  • p.Ala449Val Single submitter hereditary neoplastic syndrome
  • p.Ala565= Single submitter BAP1-related tumor predisposition syndrome
  • p.Asn299= Single submitter BAP1-related tumor predisposition syndrome
  • p.Asn645Lys Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp21= Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu31= Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu314= Single submitter BAP1-related tumor predisposition syndrome
  • p.Glu566del Single submitter hereditary neoplastic syndrome
  • p.Glu631= Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly121= Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly23= Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly431= Single submitter BAP1-related tumor predisposition syndrome
  • p.Gly579Glu Single submitter hereditary neoplastic syndrome
  • p.Leu18= Single submitter BAP1-related tumor predisposition syndrome
  • p.Leu377= Single submitter BAP1-related tumor predisposition syndrome
  • p.Leu622Phe Single submitter hereditary neoplastic syndrome
  • p.Met115Leu Single submitter hereditary neoplastic syndrome
  • p.Pro190= Single submitter BAP1-related tumor predisposition syndrome
  • p.Pro510= Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser276= Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser292= Single submitter BAP1-related tumor predisposition syndrome
  • p.Ser327Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser395Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser513= Single submitter BAP1-related tumor predisposition syndrome
  • p.Thr254= Single submitter BAP1-related tumor predisposition syndrome
  • p.Thr423= Single submitter BAP1-related tumor predisposition syndrome
  • p.Thr524Ser Single submitter hereditary neoplastic syndrome
  • p.Val295Ala Single submitter hereditary neoplastic syndrome

Benign/Likely benign 233

  • c.1117-15T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1117-4C>T Multiple submitters hereditary neoplastic syndrome
  • c.123-17C>T Multiple submitters hereditary neoplastic syndrome
  • c.1250+42G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1250+7C>G Multiple submitters hereditary neoplastic syndrome
  • c.1729+8T>C Multiple submitters Kury-Isidor syndrome
  • c.1890+11G>A Multiple submitters hereditary neoplastic syndrome
  • c.1891-20G>C Multiple submitters hereditary neoplastic syndrome
  • c.1891-30G>C Multiple submitters
  • c.1984-21_1984-20del Multiple submitters hereditary neoplastic syndrome
  • c.1984-35_1984-13dup Multiple submitters hereditary neoplastic syndrome
  • c.1984-5T>C Multiple submitters hereditary neoplastic syndrome
  • c.2056+7G>A Multiple submitters hereditary neoplastic syndrome
  • c.2057-22A>C Multiple submitters melanoma, uveal, susceptibility to, 2
  • c.255+6_255+7insA Multiple submitters BAP1-related tumor predisposition syndrome
  • c.255+9del Multiple submitters hereditary neoplastic syndrome
  • c.256-17T>C Multiple submitters hereditary neoplastic syndrome
  • c.37+31G>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.375+12T>A Multiple submitters melanoma, uveal, susceptibility to, 2
  • c.376-4G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.376-5del Multiple submitters hereditary neoplastic syndrome
  • c.38-4C>G Multiple submitters hereditary neoplastic syndrome
  • c.437+3G>A Multiple submitters hereditary neoplastic syndrome
  • c.438-12G>C Multiple submitters hereditary neoplastic syndrome
  • c.659+11T>C Multiple submitters hereditary neoplastic syndrome
  • c.659+17T>A Multiple submitters melanoma, uveal, susceptibility to, 2
  • c.660-15C>T Multiple submitters hereditary neoplastic syndrome
  • c.660-26T>A Multiple submitters melanoma, uveal, susceptibility to, 2
  • c.68-5C>G Multiple submitters hereditary neoplastic syndrome
  • c.784-14G>T Multiple submitters hereditary neoplastic syndrome
  • c.931+10G>C Multiple submitters hereditary neoplastic syndrome
  • c.931+6dup Multiple submitters hereditary neoplastic syndrome
  • c.932-20G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.932-20G>C Multiple submitters hereditary neoplastic syndrome
  • c.932-9_932-8del Multiple submitters hereditary neoplastic syndrome
  • c.-10C>T Multiple submitters hereditary neoplastic syndrome
  • c.*37G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.*392C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala130= Multiple submitters hereditary neoplastic syndrome
  • p.Ala161= Multiple submitters hereditary neoplastic syndrome
  • p.Ala167= Multiple submitters hereditary neoplastic syndrome
  • p.Ala206= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala217= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala258= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala316= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala433= Multiple submitters hereditary neoplastic syndrome
  • p.Ala606= Multiple submitters hereditary neoplastic syndrome
  • p.Ala689= Multiple submitters hereditary neoplastic syndrome
  • p.Ala95= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Arg163= Multiple submitters hereditary neoplastic syndrome
  • p.Arg207= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Arg227= Multiple submitters hereditary neoplastic syndrome
  • p.Arg300= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Arg383= Multiple submitters hereditary neoplastic syndrome
  • p.Arg508= Multiple submitters hereditary neoplastic syndrome
  • p.Arg512= Multiple submitters hereditary neoplastic syndrome
  • p.Arg518= Multiple submitters hereditary neoplastic syndrome
  • p.Arg57= Multiple submitters hereditary neoplastic syndrome
  • p.Arg610= Multiple submitters hereditary neoplastic syndrome
  • p.Arg701= Multiple submitters hereditary neoplastic syndrome
  • p.Arg720= Multiple submitters hereditary neoplastic syndrome
  • p.Asn142= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asn157= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asn2= Multiple submitters melanoma, uveal, susceptibility to, 2
  • p.Asn290= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asn290Ser Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asn308= Multiple submitters hereditary neoplastic syndrome
  • p.Asn344= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asn365= Multiple submitters hereditary neoplastic syndrome
  • p.Asn446= Multiple submitters hereditary neoplastic syndrome
  • p.Asn515= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asn547= Multiple submitters hereditary neoplastic syndrome
  • p.Asn695= Multiple submitters hereditary neoplastic syndrome
  • p.Asp107= Multiple submitters hereditary neoplastic syndrome
  • p.Asp184= Multiple submitters hereditary neoplastic syndrome
  • p.Asp199= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asp236= Multiple submitters hereditary neoplastic syndrome
  • p.Asp34= Multiple submitters hereditary neoplastic syndrome
  • p.Asp362= Multiple submitters hereditary neoplastic syndrome
  • p.Asp376= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asp397= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asp400= Multiple submitters hereditary neoplastic syndrome
  • p.Asp403= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asp404= Multiple submitters hereditary neoplastic syndrome
  • p.Asp407= Multiple submitters hereditary neoplastic syndrome
  • p.Asp408= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asp535= Multiple submitters hereditary neoplastic syndrome
  • p.Asp608= Multiple submitters hereditary neoplastic syndrome
  • p.Asp672= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Cys320= Multiple submitters melanoma, uveal, susceptibility to, 2
  • p.Cys543= Multiple submitters hereditary neoplastic syndrome
  • p.Gln156= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln261= Multiple submitters Kury-Isidor syndrome
  • p.Gln36= Multiple submitters hereditary neoplastic syndrome
  • p.Gln436= Multiple submitters hereditary neoplastic syndrome
  • p.Gln441= Multiple submitters hereditary neoplastic syndrome
  • p.Glu136= Multiple submitters hereditary neoplastic syndrome
  • p.Glu20= Multiple submitters hereditary neoplastic syndrome
  • p.Glu201= Multiple submitters hereditary neoplastic syndrome
  • p.Glu257= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu269= Multiple submitters hereditary neoplastic syndrome
  • p.Glu283= Multiple submitters hereditary neoplastic syndrome
  • p.Glu402= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu405= Multiple submitters hereditary neoplastic syndrome
  • p.Glu454= Multiple submitters hereditary neoplastic syndrome
  • p.Glu602= Multiple submitters hereditary neoplastic syndrome
  • p.Glu611= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu652= Multiple submitters hereditary neoplastic syndrome
  • p.Glu653= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu673= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu693= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gly13= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gly158= Multiple submitters hereditary neoplastic syndrome
  • p.Gly178= Multiple submitters Kury-Isidor syndrome
  • p.Gly41Ser Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gly422= Multiple submitters hereditary neoplastic syndrome
  • p.Gly427= Multiple submitters hereditary neoplastic syndrome
  • p.Gly435= Multiple submitters hereditary neoplastic syndrome
  • p.Gly470= Multiple submitters hereditary neoplastic syndrome
  • p.Gly568= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gly591= Multiple submitters hereditary neoplastic syndrome
  • p.Gly594= Multiple submitters hereditary neoplastic syndrome
  • p.Gly624= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gly707= Multiple submitters hereditary neoplastic syndrome
  • p.His141= Multiple submitters hereditary neoplastic syndrome
  • p.His169= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.His224= Multiple submitters hereditary neoplastic syndrome
  • p.His246= Multiple submitters hereditary neoplastic syndrome
  • p.His326= Multiple submitters hereditary neoplastic syndrome
  • p.His481= Multiple submitters hereditary neoplastic syndrome
  • p.His563= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.His94= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ile176= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ile210= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ile53= Multiple submitters hereditary neoplastic syndrome
  • p.Ile679= Multiple submitters hereditary neoplastic syndrome
  • p.Ile706= Multiple submitters hereditary neoplastic syndrome
  • p.Ile72= Multiple submitters hereditary neoplastic syndrome
  • p.Leu159= Multiple submitters hereditary neoplastic syndrome
  • p.Leu180= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu216= Multiple submitters hereditary neoplastic syndrome
  • p.Leu230= Multiple submitters hereditary neoplastic syndrome
  • p.Leu245= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu259= Multiple submitters hereditary neoplastic syndrome
  • p.Leu270= Multiple submitters hereditary neoplastic syndrome
  • p.Leu294= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu334= Multiple submitters melanoma, uveal, susceptibility to, 2
  • p.Leu343= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu452= Multiple submitters hereditary neoplastic syndrome
  • p.Leu538= Multiple submitters hereditary neoplastic syndrome
  • p.Leu539= Multiple submitters hereditary neoplastic syndrome
  • p.Leu575= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu691= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu709= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu96= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys120= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys240= Multiple submitters hereditary neoplastic syndrome
  • p.Lys249= Multiple submitters hereditary neoplastic syndrome
  • p.Lys25= Multiple submitters hereditary neoplastic syndrome
  • p.Lys286= Multiple submitters hereditary neoplastic syndrome
  • p.Lys51= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys656= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys659= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys711= Multiple submitters hereditary neoplastic syndrome
  • p.Phe118= Multiple submitters hereditary neoplastic syndrome
  • p.Phe122= Multiple submitters hereditary neoplastic syndrome
  • p.Phe168= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Phe48= Multiple submitters hereditary neoplastic syndrome
  • p.Phe81= Multiple submitters hereditary neoplastic syndrome
  • p.Pro153= Multiple submitters hereditary neoplastic syndrome
  • p.Pro302Leu Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro332= Multiple submitters hereditary neoplastic syndrome
  • p.Pro348= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro474= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro484= Multiple submitters hereditary neoplastic syndrome
  • p.Pro486= Multiple submitters hereditary neoplastic syndrome
  • p.Pro555= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro572= Multiple submitters hereditary neoplastic syndrome
  • p.Pro598= Multiple submitters hereditary neoplastic syndrome
  • p.Pro621= Multiple submitters hereditary neoplastic syndrome
  • p.Pro715= Multiple submitters hereditary neoplastic syndrome
  • p.Pro723= Multiple submitters hereditary neoplastic syndrome
  • p.Ser10= Multiple submitters hereditary neoplastic syndrome
  • p.Ser105= Multiple submitters hereditary neoplastic syndrome
  • p.Ser126= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser160= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser287= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser342= Multiple submitters melanoma, uveal, susceptibility to, 2
  • p.Ser37= Multiple submitters hereditary neoplastic syndrome
  • p.Ser414= Multiple submitters hereditary neoplastic syndrome
  • p.Ser455= Multiple submitters hereditary neoplastic syndrome
  • p.Ser460= Multiple submitters hereditary neoplastic syndrome
  • p.Ser464= Multiple submitters hereditary neoplastic syndrome
  • p.Ser469= Multiple submitters hereditary neoplastic syndrome
  • p.Ser521= Multiple submitters hereditary neoplastic syndrome
  • p.Ser525= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser537= Multiple submitters hereditary neoplastic syndrome
  • p.Ser58= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser597= Multiple submitters hereditary neoplastic syndrome
  • p.Ser609= Multiple submitters hereditary neoplastic syndrome
  • p.Ser680= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser697= Multiple submitters hereditary neoplastic syndrome
  • p.Ser90= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ser98= Multiple submitters Kury-Isidor syndrome
  • p.Ter730= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Thr111= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Thr273= Multiple submitters hereditary neoplastic syndrome
  • p.Thr412= Multiple submitters hereditary neoplastic syndrome
  • p.Thr423Lys Multiple submitters melanoma, uveal, susceptibility to, 2
  • p.Thr493= Multiple submitters hereditary neoplastic syndrome
  • p.Thr517= Multiple submitters hereditary neoplastic syndrome
  • p.Thr607= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Thr613Met Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Thr64= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Thr677= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Thr69= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr173= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr241= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Tyr394= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Tyr401= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Tyr627= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Tyr671= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr724= Multiple submitters hereditary neoplastic syndrome
  • p.Val24= Multiple submitters hereditary neoplastic syndrome
  • p.Val255= Multiple submitters hereditary neoplastic syndrome
  • p.Val265= Multiple submitters hereditary neoplastic syndrome
  • p.Val476Ala Multiple submitters hereditary neoplastic syndrome
  • p.Val541= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val556= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val569= Multiple submitters hereditary neoplastic syndrome
  • p.Val599= Multiple submitters hereditary neoplastic syndrome
  • p.Val603= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val654= Multiple submitters BAP1-related tumor predisposition syndrome

Likely benign 858

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

  • c.1116+11A>G Multiple submitters hereditary neoplastic syndrome
  • c.1116+11dup Multiple submitters hereditary neoplastic syndrome
  • c.1116+16C>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1117-17C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1117-18C>T Multiple submitters hereditary neoplastic syndrome
  • c.1117-19G>T Multiple submitters hereditary neoplastic syndrome
  • c.1117-8T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1117-9T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.122+15A>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.122+9C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.123-10C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.123-11dup Multiple submitters hereditary neoplastic syndrome
  • c.123-12T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.123-15C>T Multiple submitters hereditary neoplastic syndrome
  • c.123-16C>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.123-16C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.123-18G>A Multiple submitters hereditary neoplastic syndrome
  • c.123-20C>T Multiple submitters hereditary neoplastic syndrome
  • c.123-5C>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1250+8C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1251-11G>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1251-12C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1251-19A>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1251-7C>T Multiple submitters hereditary neoplastic syndrome
  • c.1729+10G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1729+11G>A Multiple submitters hereditary neoplastic syndrome
  • c.1729+13C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1729+16G>A Multiple submitters hereditary neoplastic syndrome
  • c.1730-10C>T Multiple submitters hereditary neoplastic syndrome
  • c.1730-11T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1730-12C>T Multiple submitters hereditary neoplastic syndrome
  • c.1730-14A>C Multiple submitters hereditary neoplastic syndrome
  • c.1730-4C>T Multiple submitters hereditary neoplastic syndrome
  • c.1890+10C>T Multiple submitters hereditary neoplastic syndrome
  • c.1890+11G>C Multiple submitters hereditary neoplastic syndrome
  • c.1890+9C>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1983+15C>T Multiple submitters hereditary neoplastic syndrome
  • c.1983+18T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1983+6T>C Multiple submitters hereditary neoplastic syndrome
  • c.1984-11C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1984-12T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1984-14C>T Multiple submitters hereditary neoplastic syndrome
  • c.1984-16T>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1984-17C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1984-18TCT[2] Multiple submitters hereditary neoplastic syndrome
  • c.1984-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.1984-7C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.1984-9C>G Multiple submitters hereditary neoplastic syndrome
  • c.2056+12C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.2056+13G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.2056+14C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.2056+19G>A Multiple submitters hereditary neoplastic syndrome
  • c.2057-11C>T Multiple submitters hereditary neoplastic syndrome
  • c.2057-12A>G Multiple submitters hereditary neoplastic syndrome
  • c.2057-16C>T Multiple submitters hereditary neoplastic syndrome
  • c.2057-17T>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.2057-18G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.2057-20G>A Multiple submitters hereditary neoplastic syndrome
  • c.2057-59G>A Multiple submitters
  • c.2057-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.2057-8C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.255+10A>G Multiple submitters hereditary neoplastic syndrome
  • c.255+16_255+17del Multiple submitters BAP1-related tumor predisposition syndrome
  • c.255+18C>T Multiple submitters hereditary neoplastic syndrome
  • c.255+7T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.256-18C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.256-20G>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.37+11G>A Multiple submitters hereditary neoplastic syndrome
  • c.37+12A>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.37+15G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.37+15G>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.37+16G>A Multiple submitters hereditary neoplastic syndrome
  • c.37+17G>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.37+28G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.37+35A>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.37+8G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.37+9G>T Multiple submitters hereditary neoplastic syndrome
  • c.375+111T>G Multiple submitters
  • c.375+11G>A Multiple submitters hereditary neoplastic syndrome
  • c.375+16T>A Multiple submitters hereditary neoplastic syndrome
  • c.375+4G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.376-10T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.376-11del Multiple submitters BAP1-related tumor predisposition syndrome
  • c.376-130T>A Multiple submitters
  • c.376-15T>C Multiple submitters hereditary neoplastic syndrome
  • c.376-16A>G Multiple submitters hereditary neoplastic syndrome
  • c.376-18T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.376-19C>A Multiple submitters hereditary neoplastic syndrome
  • c.376-20C>T Multiple submitters hereditary neoplastic syndrome
  • c.376-5C>T Multiple submitters hereditary neoplastic syndrome
  • c.38-11G>A Multiple submitters hereditary neoplastic syndrome
  • c.38-12C>T Multiple submitters hereditary neoplastic syndrome
  • c.38-15dup Multiple submitters BAP1-related tumor predisposition syndrome
  • c.38-19_38-17del Multiple submitters BAP1-related tumor predisposition syndrome
  • c.38-20C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.38-6A>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.38-7C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.38-8C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.38-9C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.437+15_437+23del Multiple submitters hereditary neoplastic syndrome
  • c.437+18G>A Multiple submitters hereditary neoplastic syndrome
  • c.437+7G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.437+9G>C Multiple submitters hereditary neoplastic syndrome
  • c.438-14_438-13del Multiple submitters BAP1-related tumor predisposition syndrome
  • c.438-16C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.438-19del Multiple submitters BAP1-related tumor predisposition syndrome
  • c.580+11T>C Multiple submitters hereditary neoplastic syndrome
  • c.580+12G>A Multiple submitters hereditary neoplastic syndrome
  • c.580+13A>G Multiple submitters hereditary neoplastic syndrome
  • c.580+8C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.581-11G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.581-11G>T Multiple submitters hereditary neoplastic syndrome
  • c.581-16T>C Multiple submitters hereditary neoplastic syndrome
  • c.581-17G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.581-17G>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.581-20C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.581-9C>G Multiple submitters hereditary neoplastic syndrome
  • c.659+10C>T Multiple submitters hereditary neoplastic syndrome
  • c.659+14G>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.659+18G>C Multiple submitters hereditary neoplastic syndrome
  • c.659+18G>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.659+20_659+21del Multiple submitters hereditary neoplastic syndrome
  • c.659+7dup Multiple submitters BAP1-related tumor predisposition syndrome
  • c.660-13G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.660-13G>T Multiple submitters hereditary neoplastic syndrome
  • c.660-17T>G Multiple submitters hereditary neoplastic syndrome
  • c.67+14C>T Multiple submitters hereditary neoplastic syndrome
  • c.67+16C>T Multiple submitters hereditary neoplastic syndrome
  • c.67+6_67+7del Multiple submitters BAP1-related tumor predisposition syndrome
  • c.67+7G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.67+8C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.67+9C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.68-10C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.68-11C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.68-15C>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.68-16C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.68-17T>A Multiple submitters hereditary neoplastic syndrome
  • c.68-18T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.68-20C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.68-3C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.68-4G>T Multiple submitters hereditary neoplastic syndrome
  • c.68-7_68-5del Multiple submitters hereditary neoplastic syndrome
  • c.783+12T>G Multiple submitters hereditary neoplastic syndrome
  • c.783+15T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.783+15T>G Multiple submitters hereditary neoplastic syndrome
  • c.783+8C>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.784-10C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.784-16T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.784-18C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.784-20G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.784-8G>A Multiple submitters hereditary neoplastic syndrome
  • c.784-8G>C Multiple submitters hereditary neoplastic syndrome
  • c.931+10G>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.931+11G>A Multiple submitters hereditary neoplastic syndrome
  • c.931+12T>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.931+6G>T Multiple submitters BAP1-related tumor predisposition syndrome
  • c.931+8G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.932-10C>T Multiple submitters hereditary neoplastic syndrome
  • c.932-11C>T Multiple submitters hereditary neoplastic syndrome
  • c.932-12G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.932-14T>C Multiple submitters hereditary neoplastic syndrome
  • c.932-8T>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.*444C>T Multiple submitters
  • p.Ala134= Multiple submitters hereditary neoplastic syndrome
  • p.Ala232= Multiple submitters hereditary neoplastic syndrome
  • p.Ala243= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala301= Multiple submitters hereditary neoplastic syndrome
  • p.Ala304= Multiple submitters hereditary neoplastic syndrome
  • p.Ala313= Multiple submitters hereditary neoplastic syndrome
  • p.Ala323= Multiple submitters hereditary neoplastic syndrome
  • p.Ala471= Multiple submitters hereditary neoplastic syndrome
  • p.Arg213= Multiple submitters hereditary neoplastic syndrome
  • p.Arg238= Multiple submitters hereditary neoplastic syndrome
  • p.Arg264= Multiple submitters hereditary neoplastic syndrome
  • p.Arg389= Multiple submitters hereditary neoplastic syndrome
  • p.Arg59= Multiple submitters hereditary neoplastic syndrome
  • p.Arg60= Multiple submitters hereditary neoplastic syndrome
  • p.Arg610Lys Multiple submitters hereditary neoplastic syndrome
  • p.Arg657= Multiple submitters hereditary neoplastic syndrome
  • p.Arg667= Multiple submitters hereditary neoplastic syndrome
  • p.Arg700= Multiple submitters hereditary neoplastic syndrome
  • p.Arg718= Multiple submitters hereditary neoplastic syndrome
  • p.Asn349= Multiple submitters hereditary neoplastic syndrome
  • p.Asn363= Multiple submitters hereditary neoplastic syndrome
  • p.Asn443= Multiple submitters hereditary neoplastic syndrome
  • p.Asn645= Multiple submitters hereditary neoplastic syndrome
  • p.Asn690= Multiple submitters hereditary neoplastic syndrome
  • p.Asp11= Multiple submitters hereditary neoplastic syndrome
  • p.Asp311= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asp399= Multiple submitters hereditary neoplastic syndrome
  • p.Asp542= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asp664= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Cys638= Multiple submitters hereditary neoplastic syndrome
  • p.Cys676= Multiple submitters hereditary neoplastic syndrome
  • p.Gln267= Multiple submitters hereditary neoplastic syndrome
  • p.Gln322= Multiple submitters hereditary neoplastic syndrome
  • p.Gln355= Multiple submitters hereditary neoplastic syndrome
  • p.Gln392= Multiple submitters hereditary neoplastic syndrome
  • p.Gln393= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln483= Multiple submitters hereditary neoplastic syndrome
  • p.Glu242= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu315= Multiple submitters hereditary neoplastic syndrome
  • p.Glu398= Multiple submitters hereditary neoplastic syndrome
  • p.Glu406= Multiple submitters hereditary neoplastic syndrome
  • p.Glu450= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu534= Multiple submitters hereditary neoplastic syndrome
  • p.Glu55= Multiple submitters hereditary neoplastic syndrome
  • p.Glu600= Multiple submitters hereditary neoplastic syndrome
  • p.Glu640= Multiple submitters hereditary neoplastic syndrome
  • p.Glu655= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Glu9= Multiple submitters hereditary neoplastic syndrome
  • p.Gly132= Multiple submitters hereditary neoplastic syndrome
  • p.Gly307= Multiple submitters hereditary neoplastic syndrome
  • p.Gly472= Multiple submitters hereditary neoplastic syndrome
  • p.His144= Multiple submitters hereditary neoplastic syndrome
  • p.His193= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.His347= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.His526= Multiple submitters hereditary neoplastic syndrome
  • p.His84= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ile271= Multiple submitters hereditary neoplastic syndrome
  • p.Ile32= Multiple submitters hereditary neoplastic syndrome
  • p.Ile445= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ile47= Multiple submitters hereditary neoplastic syndrome
  • p.Ile499= Multiple submitters hereditary neoplastic syndrome
  • p.Ile696= Multiple submitters hereditary neoplastic syndrome
  • p.Ile76= Multiple submitters hereditary neoplastic syndrome
  • p.Leu152= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu17= Multiple submitters hereditary neoplastic syndrome
  • p.Leu183= Multiple submitters hereditary neoplastic syndrome
  • p.Leu186= Multiple submitters hereditary neoplastic syndrome
  • p.Leu256= Multiple submitters hereditary neoplastic syndrome
  • p.Leu281= Multiple submitters hereditary neoplastic syndrome
  • p.Leu361= Multiple submitters hereditary neoplastic syndrome
  • p.Leu429= Multiple submitters hereditary neoplastic syndrome
  • p.Leu437= Multiple submitters hereditary neoplastic syndrome
  • p.Leu448= Multiple submitters hereditary neoplastic syndrome
  • p.Leu507= Multiple submitters hereditary neoplastic syndrome
  • p.Leu561= Multiple submitters hereditary neoplastic syndrome
  • p.Leu6= Multiple submitters hereditary neoplastic syndrome
  • p.Leu622= Multiple submitters hereditary neoplastic syndrome
  • p.Leu632= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu633= Multiple submitters hereditary neoplastic syndrome
  • p.Leu65= Multiple submitters hereditary neoplastic syndrome
  • p.Leu688= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Leu8= Multiple submitters hereditary neoplastic syndrome
  • p.Lys187= Multiple submitters hereditary neoplastic syndrome
  • p.Lys205= Multiple submitters hereditary neoplastic syndrome
  • p.Lys368= Multiple submitters hereditary neoplastic syndrome
  • p.Lys419= Multiple submitters hereditary neoplastic syndrome
  • p.Lys451= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys457= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Lys601= Multiple submitters hereditary neoplastic syndrome
  • p.Lys637= Multiple submitters hereditary neoplastic syndrome
  • p.Lys714= Multiple submitters hereditary neoplastic syndrome
  • p.Phe170= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Phe181= Multiple submitters hereditary neoplastic syndrome
  • p.Phe678= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro124= Multiple submitters hereditary neoplastic syndrome
  • p.Pro293= Multiple submitters hereditary neoplastic syndrome
  • p.Pro324= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro350= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro370= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Pro387= Multiple submitters hereditary neoplastic syndrome
  • p.Pro479= Multiple submitters hereditary neoplastic syndrome
  • p.Pro519= Multiple submitters hereditary neoplastic syndrome
  • p.Pro629= Multiple submitters hereditary neoplastic syndrome
  • p.Ser143= Multiple submitters hereditary neoplastic syndrome
  • p.Ser492= Multiple submitters hereditary neoplastic syndrome
  • p.Ser582= Multiple submitters hereditary neoplastic syndrome
  • p.Ser63= Multiple submitters hereditary neoplastic syndrome
  • p.Ser705= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Thr16= Multiple submitters hereditary neoplastic syndrome
  • p.Thr177= Multiple submitters hereditary neoplastic syndrome
  • p.Thr444= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Thr495= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr129= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Tyr33= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr366= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr418= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr44= Multiple submitters hereditary neoplastic syndrome
  • p.Val19= Multiple submitters hereditary neoplastic syndrome
  • p.Val209= Multiple submitters hereditary neoplastic syndrome
  • p.Val247= Multiple submitters hereditary neoplastic syndrome
  • p.Val295= Multiple submitters hereditary neoplastic syndrome
  • p.Val386= Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Val388= Multiple submitters hereditary neoplastic syndrome
  • p.Val550= Multiple submitters hereditary neoplastic syndrome
  • p.Val66= Multiple submitters hereditary neoplastic syndrome
  • p.Val71= Multiple submitters hereditary neoplastic syndrome
  • c.1116+10del Single submitter hereditary neoplastic syndrome
  • c.1116+10dup Single submitter BAP1-related tumor predisposition syndrome
  • c.1116+10G>A Single submitter BAP1-related tumor predisposition syndrome
  • c.1116+13C>T Single submitter BAP1-related tumor predisposition syndrome
  • c.1116+15C>G Single submitter BAP1-related tumor predisposition syndrome
  • c.1116+15C>T Single submitter BAP1-related tumor predisposition syndrome
  • c.1116+17C>T Single submitter BAP1-related tumor predisposition syndrome
  • c.1116+17del Single submitter BAP1-related tumor predisposition syndrome
  • c.1116+40C>T Single submitter
  • c.1116+50G>A Single submitter
  • c.1116+9G>C Single submitter BAP1-related tumor predisposition syndrome

Uncertain significance 1334

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

  • c.1111_1116+17dup Multiple submitters hereditary neoplastic syndrome
  • c.1116+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.1116+6C>T Multiple submitters hereditary neoplastic syndrome
  • c.122+6T>C Multiple submitters hereditary neoplastic syndrome
  • c.1251-20C>G Multiple submitters hereditary neoplastic syndrome
  • c.1890+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.2056+5G>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.256-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.375+5G>C Multiple submitters BAP1-related tumor predisposition syndrome
  • c.376-27_376-10del Multiple submitters hereditary neoplastic syndrome
  • c.38-3del Multiple submitters hereditary neoplastic syndrome
  • c.437+3del Multiple submitters hereditary neoplastic syndrome
  • c.438-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.659+3A>G Multiple submitters hereditary neoplastic syndrome
  • c.660-14G>A Multiple submitters BAP1-related tumor predisposition syndrome
  • c.660-9_660-4del Multiple submitters BAP1-related tumor predisposition syndrome
  • c.783+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.931+4C>G Multiple submitters BAP1-related tumor predisposition syndrome
  • c.931+4C>T Multiple submitters hereditary neoplastic syndrome
  • c.931+6G>C Multiple submitters hereditary neoplastic syndrome
  • c.-3A>G Multiple submitters hereditary neoplastic syndrome
  • c.-6G>A Multiple submitters hereditary neoplastic syndrome
  • c.*876C>T Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Ala130Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala134Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala167Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala243Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala258Thr Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala288Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala288Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala304Asn Multiple submitters hereditary neoplastic syndrome
  • p.Ala304Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala323Thr Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala378Leu Multiple submitters hereditary neoplastic syndrome
  • p.Ala378Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala378Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala379Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala379Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala415Pro Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala415Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala433Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala433Thr Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala471Ile Multiple submitters hereditary neoplastic syndrome
  • p.Ala471Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala471Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala471Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala496Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala514Gly Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala549Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala574Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala574Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala606Thr Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala634Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala634Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala641Asp Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala648Ser Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala648Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala648Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ala726Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala726Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala83Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala92Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg146Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg163Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg163Gly Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg207Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg207Gly Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg207Trp Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg208Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg208Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg213Cys Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg213His Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg213Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg227Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg237Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg237His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg238Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg238Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg244Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg300Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg383His Multiple submitters melanoma, uveal, susceptibility to, 2 ⚠
  • p.Arg385Gln Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg417= Multiple submitters hereditary neoplastic syndrome
  • p.Arg417Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg508His Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg512Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg512Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg518Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg540Cys Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg540His Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg545Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg548Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg551Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg56Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg56His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg57Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg587Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg59Trp Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg610Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg617Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg657Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg700Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg700Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg701His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg708Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg713Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg713Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg717Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg718Gln Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Arg720Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg722Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg728Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg728His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg728Pro Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asn2Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn2Tyr Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asn330Asp Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asn344Ile Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asn349Lys Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asn363Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn365Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn413Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn413Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn446Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn490Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn504Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn515His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn515Ser Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asn670Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn690Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn78Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn78Ser Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asn78Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn89Thr Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asp184His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp236Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp376Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp376Glu Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asp397Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp397del Multiple submitters hereditary neoplastic syndrome
  • p.Asp399Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp400_Tyr401insAspGluAspAsp Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Asp408Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp434Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp458Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp535Gly Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asp536Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp536Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp552Glu Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asp567Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp608Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp664Gly Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Asp672His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp716His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp74Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp75Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys320Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Cys320Tyr Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Cys39Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Cys39Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys543Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys638Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys91Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln253Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln280His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln322Glu Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gln355Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gln372Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln393Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln393Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln410His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln436Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln590His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln665His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln694Ter Multiple submitters BAP1-related tumor predisposition syndrome
  • p.Gln712Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln729Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gln729Leu Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gln85= Multiple submitters hereditary neoplastic syndrome
  • p.Glu136Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu148Lys Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Glu198Leu Multiple submitters hereditary neoplastic syndrome
  • p.Glu198Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Glu200Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu201Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu257Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu269Lys Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Glu283Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu284Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu284Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu297Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu373Lys Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Glu375Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu375Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu405_Asp408dup Multiple submitters hereditary neoplastic syndrome
  • p.Glu406Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu450Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu454Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu534Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu54Lys Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Glu55Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu577Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu577Lys Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Glu602Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu602Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu631Ala Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Glu640Gln Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Glu647Gln Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly121Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly128Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly13Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly13Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly197Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly215Ala Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly215Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly215Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly23Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly23Ser Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly307Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly312Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly312Ser Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly312Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly318Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly318Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly340Ser Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly345Glu Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly380Ser Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly424Glu Multiple submitters melanoma, uveal, susceptibility to, 2 ⚠
  • p.Gly424Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly427Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly427Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly472Arg Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly500Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly554Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly568Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly578Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly581Asp Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Gly581Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly594Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly614Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His151Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His169Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His193Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His193Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His274Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His274Gln Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.His274Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His326Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His326Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His481Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His481Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His526Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His526Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His526Gln Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.His563Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His563Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile131Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile131Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile191Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile191Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile210Leu Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ile210Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile210Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile239Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile239Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile263Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile263Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile353Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile445Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ile461Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile461Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile465Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile499Met Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ile527Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile527Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile53Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile544Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile544Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile586Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile662Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile679Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile706Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Ile72Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Leu108Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu14His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu152Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu248Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu259Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu270Pro Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Leu270Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Leu334Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu343Phe Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Leu343Pro Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Leu343Val Multiple submitters BAP1-related tumor predisposition syndrome ⚠
  • p.Leu35Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu377Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu377Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu437Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu440Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu452Phe Multiple submitters hereditary neoplastic syndrome ⚠