CDK4 — 1162 ClinVar variants

All ClinVar germline CDK4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 548 flagged for review →

3 Pathogenic · 68 Conflicting · 43 Benign · 130 Benign/Likely benign · 281 Likely benign · 637 Uncertain significance

Full CDK4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 548

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 agree, ClinVar conflicts 18

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CDK4 p.Ala269Val Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.Arg210Pro Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp105Glu Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp241Glu Conflicting Single submitter
familial melanoma
CDK4 p.Asp298Asn Conflicting Single submitter
familial melanoma
CDK4 p.Gly300Ser Conflicting Single submitter
familial melanoma
CDK4 p.His281Asn Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.His281Gln Conflicting Single submitter
familial melanoma
CDK4 p.His296Tyr Conflicting Single submitter
familial melanoma
CDK4 p.Lys88Arg Conflicting Single submitter
familial melanoma
CDK4 p.Met264Ile Conflicting Single submitter
familial melanoma
CDK4 p.Pro250Ser Conflicting Single submitter
familial melanoma
CDK4 p.Pro251Arg Conflicting Single submitter
familial melanoma
CDK4 p.Pro251His Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.Pro302Ala Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.Ser218Tyr Conflicting Single submitter
familial melanoma
CDK4 p.Ser267Leu Conflicting Single submitter
familial melanoma
CDK4 p.Val260Glu Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 300

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 300

CDK4 p.Ala162Asp Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala162Pro Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala205Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Ala286Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala33Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala79Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg101Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg139Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg139Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg181Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg181Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg240Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg255Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg283Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg288Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg288Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg55Cys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg55His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg62Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg73Trp Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Asn301His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Asn301Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Asp228Glu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Asp298Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Cys202Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Cys215Arg Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Cys215Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gln123His Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu115Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Glu115Asp Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu115Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu184Lys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu299Asp Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu299Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu303Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu56Ala Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu7Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Glu86Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly13Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly151Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gly151Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly15Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly160Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gly216Ala Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly247Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gly253Arg Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly253Glu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly268Glu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.His281Asp Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 3
CDK4 p.His292Arg Uncertain significance Multiple submitters
familial melanoma
CDK4 p.His296Arg Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ile117Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ile203Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ile284Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Leu104Met Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Leu120Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Leu244Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Leu273Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Leu290Pro Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Leu74Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Lys35Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Met207Lys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Met264Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Met275Leu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Met275Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Met75Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Phe204Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Phe204Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Phe227Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Phe278Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro109Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro194His Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 3
CDK4 p.Pro194Leu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro212Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro234Ala Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro234Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro239Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro250Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro251Leu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro280Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro302Leu Uncertain significance Multiple submitters
Hereditary cancer
CDK4 p.Pro40Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro40Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser150Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser199Arg Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser267Ala Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser52Arg Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Thr102Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Thr149Ala Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Thr153Arg Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Thr153Ile Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Thr177Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Tyr103Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Tyr165Cys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Tyr17Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Tyr17His Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Tyr191Asn Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Tyr191Cys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Tyr294Cys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val148Leu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val154Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val154Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val195Met Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val200Ala Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val200Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val242Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val242Ile Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val260Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val54Ile Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val89Ile Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala114Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala114Thr Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala157Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala162Thr Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala205Val Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala23Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala248Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala248Val Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala269Ser Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala286Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala65Gly Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala65Val Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala79Val Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg126Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Arg163Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Arg181Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg210Leu Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg24Gly Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg24Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg283Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg288Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Arg38Thr Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg61Lys Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg62Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg73Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Asn145Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Asn301Lys Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp140His Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp140Tyr Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp158Glu Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp228Glu Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp237Glu Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp298Val Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp99Asn Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp99Glu Uncertain significance Single submitter
familial melanoma
CDK4 p.Cys215Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Gln222His Uncertain significance Single submitter
familial melanoma
CDK4 p.Gln222Lys Uncertain significance Single submitter
familial melanoma
CDK4 p.Gln98His Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Glu115Gly Uncertain significance Single submitter
familial melanoma

Predictors split 230

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 230

CDK4 p.Ala107Val Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala133Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala192Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Ala248Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Ala248Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala269Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala286Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg122Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg126Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg126Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg209His Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg240Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg240Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg246Cys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg246Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg246His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg288Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg5Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg73Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg82Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg82Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Arg85Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg85Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Arg85Trp Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Asn134Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Asn70Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Asp119His Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Asp221Glu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Asp241His Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Asp97His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Cys135Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gln168His Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gln188Lys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu115Lys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu144Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu265Lys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu266Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu266Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu266Lys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Glu274Gly Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly111Asp Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly111Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gly224Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gly224Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gly43Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Gly44Glu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly45Cys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Gly48Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.His30Tyr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ile164Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Ile230Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Leu104Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Leu120Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Leu141Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Leu178Phe Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Leu290Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Lys118Gln Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Lys211Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Met197Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Phe124Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Phe227Leu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Phe287Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Phe31Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro108His Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro110Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro113Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro173Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro194Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro234Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro234Leu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro245Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Pro254Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro256Leu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Pro262Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser166Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Ser166Thr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser189Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Ser218Cys Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser36Asn Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser4Phe Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ser4Tyr Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Thr116Met Uncertain significance Multiple submitters
CDK4-related disorder
CDK4 p.Thr193Ser Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Thr19Ala Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Thr90Ile Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Tyr167Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val137Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val174Met Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val175Ile Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val185Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val257Glu Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Val261Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val37Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val39Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val77Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDK4 p.Val96Ala Uncertain significance Multiple submitters
familial melanoma
CDK4 p.Ala107Thr Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala10Thr Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala157Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala162Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala16Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala182Ser Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala220Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala2Thr Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala2Val Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala58Thr Uncertain significance Single submitter
familial melanoma
CDK4 p.Ala65Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Ala79Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg101Gly Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg122Cys Conflicting Single submitter
familial melanoma
CDK4 p.Arg122His Conflicting Single submitter
familial melanoma
CDK4 p.Arg122Leu Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg209Cys Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.Arg210Gln Conflicting Single submitter
familial melanoma
CDK4 p.Arg246Leu Uncertain significance Single submitter
CDK4 p.Arg252Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Arg252Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Arg255Cys Conflicting Single submitter
familial melanoma
CDK4 p.Arg255His Conflicting Single submitter
familial melanoma
CDK4 p.Arg255Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg38Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Arg5Gln Conflicting Single submitter
familial melanoma
CDK4 p.Arg82Leu Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg82Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Arg85Leu Uncertain significance Single submitter
familial melanoma
CDK4 p.Asn279Lys Uncertain significance Single submitter
familial melanoma
CDK4 p.Asn70His Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp105Gly Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp105His Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp119Ala Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp129Asn Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp221Asn Conflicting Single submitter
familial melanoma
CDK4 p.Asp228Ala Likely benign Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp228His Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp236Gly Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp237Ala Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp241Tyr Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Asp76Glu Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp84Val Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp97Asn Uncertain significance Single submitter
familial melanoma
CDK4 p.Asp97Glu Conflicting Single submitter
hereditary neoplastic syndrome
CDK4 p.Cys135Trp Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Cys215Tyr Uncertain significance Single submitter
familial melanoma
CDK4 p.Cys78Ser Uncertain significance Single submitter
CDK4 p.Gln168Arg Uncertain significance Single submitter
familial melanoma
CDK4 p.Gln168Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Gln188Arg Uncertain significance Single submitter
familial melanoma
CDK4 p.Gln188Pro Uncertain significance Single submitter
familial melanoma
CDK4 p.Gln258His Uncertain significance Single submitter
hereditary neoplastic syndrome
CDK4 p.Gln270Leu Uncertain significance Single submitter

All CDK4 variants

Pathogenic 3

p.Arg24Cys Multiple submitters familial melanoma
p.Arg24His Multiple submitters familial melanoma
p.Glu94Ter No assertion criteria gastric cancer

Conflicting classifications of pathogenicity 68

c.219-5G>C Single submitter hereditary neoplastic syndrome
c.354+3G>A Single submitter familial melanoma
c.354+9G>C Single submitter familial melanoma
c.355-3T>C Single submitter familial melanoma
c.632+4T>A Single submitter familial melanoma
c.632+5dup Single submitter familial melanoma
c.632+6G>A Single submitter familial melanoma
c.632+9C>T Single submitter familial melanoma
c.633-10C>G Single submitter familial melanoma
c.633-5C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.683+8A>T Single submitter diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
c.684-5C>G Single submitter hereditary neoplastic syndrome
c.819+7del Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.820-4T>G Single submitter hereditary neoplastic syndrome
c.820-5C>T Single submitter familial melanoma
c.-123T>G Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.-19-9_-19-8del Single submitter hereditary neoplastic syndrome
c.-9G>T Single submitter
p.Ala269Val Single submitter hereditary neoplastic syndrome ⚠
p.Arg122Cys Single submitter familial melanoma ⚠
p.Arg122His Single submitter familial melanoma ⚠
p.Arg209Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg210Gln Single submitter familial melanoma ⚠
p.Arg210Pro Single submitter hereditary neoplastic syndrome ⚠
p.Arg255Cys Single submitter familial melanoma ⚠
p.Arg255His Single submitter familial melanoma ⚠
p.Arg288= Single submitter hereditary neoplastic syndrome
p.Arg5Gln Single submitter familial melanoma ⚠
p.Asp105Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp129Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp221Asn Single submitter familial melanoma ⚠
p.Asp241Glu Single submitter familial melanoma ⚠
p.Asp298Asn Single submitter familial melanoma ⚠
p.Asp97Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln123= Single submitter familial melanoma
p.Glu274= Single submitter familial melanoma
p.Gly300Ser Single submitter familial melanoma ⚠
p.His281Asn Single submitter hereditary neoplastic syndrome ⚠
p.His281Gln Single submitter familial melanoma ⚠
p.His281Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His296Tyr Single submitter familial melanoma ⚠
p.Ile230= Single submitter hereditary neoplastic syndrome
p.Ile284Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu223= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Lys211= Single submitter hereditary neoplastic syndrome
p.Lys88Arg Single submitter familial melanoma ⚠
p.Met264Ile Single submitter familial melanoma ⚠
p.Phe214= Single submitter familial melanoma
p.Phe249= Single submitter familial melanoma
p.Phe93= Single submitter hereditary neoplastic syndrome
p.Pro173= Single submitter hereditary neoplastic syndrome
p.Pro250Ser Single submitter familial melanoma ⚠
p.Pro251Arg Single submitter familial melanoma ⚠
p.Pro251His Single submitter hereditary neoplastic syndrome ⚠
p.Pro302Ala Single submitter hereditary neoplastic syndrome ⚠
p.Ser218Tyr Single submitter familial melanoma ⚠
p.Ser259Leu Single submitter familial melanoma ⚠
p.Ser267Leu Single submitter familial melanoma ⚠
p.Thr116Ala Single submitter familial melanoma ⚠
p.Thr277Ala Single submitter hereditary neoplastic syndrome ⚠
p.Tyr21= Single submitter hereditary neoplastic syndrome
p.Val137Ile Single submitter CDK4-related disorder ⚠
p.Val14= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Val260= Single submitter hereditary neoplastic syndrome
p.Val260Glu Single submitter hereditary neoplastic syndrome ⚠
p.Val57= Single submitter familial melanoma
p.Val89= Single submitter hereditary neoplastic syndrome
p.Val96Ile Single submitter hereditary neoplastic syndrome ⚠

Benign 43

c.219-31G>A Multiple submitters hereditary neoplastic syndrome
c.355-48G>C Multiple submitters
c.522+41G>A Multiple submitters hereditary neoplastic syndrome
c.819+111G>T Multiple submitters
c.819+115T>C Multiple submitters
c.819+39_819+40del Multiple submitters
c.-60C>G Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.*210G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.*521G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.*706G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Thr149= Multiple submitters hereditary neoplastic syndrome
c.355-12del Single submitter familial melanoma
c.684-20_684-19del Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.820-5del Single submitter familial melanoma
c.820-86_820-85insAAG Single submitter
c.820-91_820-89dup Single submitter
c.-19-79_-19-78insT Single submitter
c.*10T>A Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*2C>A Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*370T>G Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*491C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*6G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*751C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*9G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Ala269= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Ala289= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Ala33= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Arg126= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Asp25= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Gly224= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Gly231= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Gly253= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Gly300= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Ile164= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Leu131= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Leu271= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Pro256= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Pro69= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Ser36= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Ter304= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Val176= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Val242= Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Val32= Single submitter melanoma, cutaneous malignant, susceptibility to, 3

Benign/Likely benign 130

c.354+19C>T Multiple submitters familial melanoma
c.522+8G>A Multiple submitters familial melanoma
c.523-4T>A Multiple submitters familial melanoma
c.633-8C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.684-4A>T Multiple submitters familial melanoma
c.-11T>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Ala114= Multiple submitters familial melanoma
p.Ala16= Multiple submitters familial melanoma
p.Ala162= Multiple submitters hereditary neoplastic syndrome
p.Ala220= Multiple submitters hereditary neoplastic syndrome
p.Ala23= Multiple submitters hereditary neoplastic syndrome
p.Ala248= Multiple submitters hereditary neoplastic syndrome
p.Ala286= Multiple submitters hereditary neoplastic syndrome
p.Arg101= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Arg122= Multiple submitters hereditary neoplastic syndrome
p.Arg210= Multiple submitters hereditary neoplastic syndrome
p.Arg240= Multiple submitters hereditary neoplastic syndrome
p.Arg283= Multiple submitters hereditary neoplastic syndrome
p.Arg5= Multiple submitters familial melanoma
p.Arg61= Multiple submitters hereditary neoplastic syndrome
p.Arg82= Multiple submitters hereditary neoplastic syndrome
p.Arg85= Multiple submitters hereditary neoplastic syndrome
p.Asn134= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Asn217= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Asn279= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Asn41= Multiple submitters familial melanoma
p.Asn70= Multiple submitters familial melanoma
p.Asp140= Multiple submitters hereditary neoplastic syndrome
p.Asp196= Multiple submitters hereditary neoplastic syndrome
p.Asp221= Multiple submitters hereditary neoplastic syndrome
p.Asp76= Multiple submitters familial melanoma
p.Asp84= Multiple submitters familial melanoma
p.Cys135= Multiple submitters hereditary neoplastic syndrome
p.Cys202= Multiple submitters hereditary neoplastic syndrome
p.Cys215= Multiple submitters hereditary neoplastic syndrome
p.Gln168= Multiple submitters familial melanoma
p.Gln188= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Gln222= Multiple submitters familial melanoma
p.Glu235= Multiple submitters familial melanoma
p.Glu265= Multiple submitters familial melanoma
p.Glu266= Multiple submitters familial melanoma
p.Glu86= Multiple submitters hereditary neoplastic syndrome
p.Glu94= Multiple submitters familial melanoma
p.Gly111= Multiple submitters familial melanoma
p.Gly151= Multiple submitters familial melanoma
p.Gly18= Multiple submitters familial melanoma
p.Gly201= Multiple submitters familial melanoma
p.Gly216= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Gly247= Multiple submitters hereditary neoplastic syndrome
p.Gly253= Multiple submitters familial melanoma
p.Gly29= Multiple submitters hereditary neoplastic syndrome
p.Gly300= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Gly47= Multiple submitters hereditary neoplastic syndrome
p.His27= Multiple submitters familial melanoma
p.His281= Multiple submitters familial melanoma
p.His292= Multiple submitters hereditary neoplastic syndrome
p.His95= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Ile117= Multiple submitters familial melanoma
p.Ile136= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Ile203= Multiple submitters familial melanoma
p.Ile284= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Ile51= Multiple submitters familial melanoma
p.Ile87= Multiple submitters familial melanoma
p.Leu100= Multiple submitters hereditary neoplastic syndrome
p.Leu104= Multiple submitters familial melanoma
p.Leu112= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Leu125= Multiple submitters familial melanoma
p.Leu128= Multiple submitters familial melanoma
p.Leu141= Multiple submitters hereditary neoplastic syndrome
p.Leu156= Multiple submitters hereditary neoplastic syndrome
p.Leu161= Multiple submitters hereditary neoplastic syndrome
p.Leu171= Multiple submitters familial melanoma
p.Leu178= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Leu213= Multiple submitters familial melanoma
p.Leu213= Multiple submitters familial melanoma
p.Leu223= Multiple submitters hereditary neoplastic syndrome
p.Leu290= Multiple submitters familial melanoma
p.Leu49= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Leu59= Multiple submitters familial melanoma
p.Leu60= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Leu74= Multiple submitters hereditary neoplastic syndrome
p.Leu91= Multiple submitters familial melanoma
p.Lys282= Multiple submitters familial melanoma
p.Lys88= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Phe130= Multiple submitters familial melanoma
p.Phe204= Multiple submitters familial melanoma
p.Phe278= Multiple submitters familial melanoma
p.Phe31= Multiple submitters familial melanoma
p.Phe66= Multiple submitters familial melanoma
p.Pro183= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Pro212= Multiple submitters hereditary neoplastic syndrome
p.Pro234= Multiple submitters familial melanoma
p.Pro251= Multiple submitters familial melanoma
p.Pro251= Multiple submitters familial melanoma
p.Pro254= Multiple submitters familial melanoma
p.Pro26= Multiple submitters familial melanoma
p.Pro262= Multiple submitters hereditary neoplastic syndrome
p.Pro262= Multiple submitters familial melanoma
p.Pro302= Multiple submitters familial melanoma
p.Pro8= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Ser166= Multiple submitters familial melanoma
p.Ser189= Multiple submitters hereditary neoplastic syndrome
p.Ser199= Multiple submitters hereditary neoplastic syndrome
p.Ser218= Multiple submitters familial melanoma
p.Ser243= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Ser259= Multiple submitters familial melanoma
p.Ser259= Multiple submitters hereditary neoplastic syndrome
p.Ser267= Multiple submitters familial melanoma
p.Ser28= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Ser293= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Thr102= Multiple submitters familial melanoma
p.Thr116= Multiple submitters familial melanoma
p.Thr177= Multiple submitters familial melanoma
p.Thr190= Multiple submitters familial melanoma
p.Thr277= Multiple submitters hereditary neoplastic syndrome
p.Thr3= Multiple submitters hereditary neoplastic syndrome
p.Thr83= Multiple submitters hereditary neoplastic syndrome
p.Tyr103= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Tyr167= Multiple submitters familial melanoma
p.Tyr180= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Tyr191= Multiple submitters hereditary neoplastic syndrome
p.Tyr294= Multiple submitters hereditary neoplastic syndrome
p.Val148= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Val154= Multiple submitters familial melanoma
p.Val20= Multiple submitters familial melanoma
p.Val257= Multiple submitters hereditary neoplastic syndrome
p.Val37= Multiple submitters hereditary neoplastic syndrome
p.Val39= Multiple submitters hereditary neoplastic syndrome
p.Val92= Multiple submitters hereditary neoplastic syndrome
p.Val96= Multiple submitters familial melanoma

Likely benign 281

c.219-10C>T Multiple submitters familial melanoma
c.219-11A>G Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.219-17G>A Multiple submitters familial melanoma
c.219-17G>C Multiple submitters familial melanoma
c.219-4T>C Multiple submitters hereditary neoplastic syndrome
c.219-7T>C Multiple submitters familial melanoma
c.354+10G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.354+48T>C Multiple submitters
c.354+9G>T Multiple submitters familial melanoma
c.355-10T>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.355-12C>T Multiple submitters familial melanoma
c.355-18C>T Multiple submitters familial melanoma
c.355-7A>C Multiple submitters familial melanoma
c.522+18A>G Multiple submitters familial melanoma
c.522+7A>G Multiple submitters familial melanoma
c.522+9A>C Multiple submitters familial melanoma
c.523-11A>G Multiple submitters familial melanoma
c.523-13C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.523-16T>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.523-17C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.523-20A>G Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.523-20A>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.523-7C>T Multiple submitters familial melanoma
c.632+19C>G Multiple submitters familial melanoma
c.632+7G>A Multiple submitters familial melanoma
c.632+8A>G Multiple submitters familial melanoma
c.633-10C>T Multiple submitters familial melanoma
c.633-13C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.633-14C>T Multiple submitters familial melanoma
c.633-158A>G Multiple submitters
c.633-18T>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.633-200T>A Multiple submitters
c.633-20T>C Multiple submitters familial melanoma
c.633-6C>T Multiple submitters familial melanoma
c.633-8C>A Multiple submitters familial melanoma
c.683+7G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.683+8del Multiple submitters familial melanoma
c.684-10dup Multiple submitters familial melanoma
c.684-11G>A Multiple submitters familial melanoma
c.684-12T>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.684-14C>T Multiple submitters familial melanoma
c.684-4A>G Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.684-5C>T Multiple submitters familial melanoma
c.684-5del Multiple submitters familial melanoma
c.684-7C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.684-8C>T Multiple submitters familial melanoma
c.819+11T>C Multiple submitters familial melanoma
c.819+18G>A Multiple submitters familial melanoma
c.819+234G>A Multiple submitters
c.819+7G>A Multiple submitters familial melanoma
c.819+8A>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.820-14G>A Multiple submitters familial melanoma
c.820-224C>G Multiple submitters
c.820-251C>G Multiple submitters
c.820-4T>C Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.820-6C>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.820-7_820-6insG Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.820-94A>G Multiple submitters
c.-19-56C>G Multiple submitters
p.Ala157= Multiple submitters familial melanoma
p.Ala2= Multiple submitters familial melanoma
p.Arg240= Multiple submitters hereditary neoplastic syndrome
p.Arg246= Multiple submitters familial melanoma
p.Asn145= Multiple submitters hereditary neoplastic syndrome
p.Asp99= Multiple submitters familial melanoma
p.Gln258= Multiple submitters hereditary neoplastic syndrome
p.Glu184= Multiple submitters hereditary neoplastic syndrome
p.Glu219= Multiple submitters familial melanoma
p.Glu56= Multiple submitters familial melanoma
p.Glu67= Multiple submitters familial melanoma
p.His30= Multiple submitters hereditary neoplastic syndrome
p.Leu232= Multiple submitters hereditary neoplastic syndrome
p.Leu34= Multiple submitters familial melanoma
p.Lys35= Multiple submitters familial melanoma
p.Phe227= Multiple submitters familial melanoma
p.Pro108= Multiple submitters hereditary neoplastic syndrome
p.Thr19= Multiple submitters familial melanoma
p.Val185= Multiple submitters familial melanoma
c.218+14G>A Single submitter familial melanoma
c.218+14G>C Single submitter familial melanoma
c.218+15G>A Single submitter familial melanoma
c.218+16_218+19del Single submitter familial melanoma
c.218+16A>G Single submitter familial melanoma
c.218+18G>A Single submitter familial melanoma
c.218+20T>C Single submitter familial melanoma
c.218+35A>T Single submitter
c.218+8G>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.219-11A>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.219-14T>C Single submitter familial melanoma
c.219-15dup Single submitter familial melanoma
c.219-16C>G Single submitter familial melanoma
c.219-17_219-16delinsAT Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.219-18A>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.219-19G>C Single submitter familial melanoma
c.219-20T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.219-5del Single submitter familial melanoma
c.219-5G>A Single submitter familial melanoma
c.219-6G>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.219-8C>G Single submitter familial melanoma
c.219-9T>C Single submitter familial melanoma
c.354+10G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.354+11T>G Single submitter familial melanoma
c.354+12T>G Single submitter familial melanoma
c.354+14G>A Single submitter familial melanoma
c.354+15T>C Single submitter familial melanoma
c.354+16A>G Single submitter familial melanoma
c.354+17G>A Single submitter familial melanoma
c.354+17G>C Single submitter familial melanoma
c.354+18G>A Single submitter familial melanoma
c.354+20A>G Single submitter familial melanoma
c.354+6_354+7del Single submitter familial melanoma
c.354+8G>A Single submitter familial melanoma
c.354+8G>C Single submitter familial melanoma
c.354+9_354+10dup Single submitter familial melanoma
c.355-13C>G Single submitter familial melanoma
c.355-14C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.355-16T>C Single submitter familial melanoma
c.355-17C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.355-40C>G Single submitter
c.355-4C>T Single submitter familial melanoma
c.522+10_522+13del Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.522+15G>A Single submitter familial melanoma
c.522+16G>A Single submitter familial melanoma
c.522+17T>C Single submitter familial melanoma
c.522+19C>A Single submitter familial melanoma
c.522+19C>G Single submitter familial melanoma
c.522+19C>T Single submitter familial melanoma
c.522+20C>T Single submitter familial melanoma
c.522+42T>C Single submitter
c.522+8del Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.523-10T>A Single submitter familial melanoma
c.523-10T>C Single submitter familial melanoma
c.523-14C>T Single submitter familial melanoma
c.523-15T>G Single submitter familial melanoma
c.523-19T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.523-20A>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.523-36C>T Single submitter
c.523-4T>G Single submitter hereditary neoplastic syndrome
c.523-6C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.523-8C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.632+10C>G Single submitter familial melanoma
c.632+11C>A Single submitter familial melanoma
c.632+13C>T Single submitter familial melanoma
c.632+149G>A Single submitter
c.632+14A>G Single submitter familial melanoma
c.632+15_632+16del Single submitter familial melanoma
c.632+15T>A Single submitter familial melanoma
c.632+16A>G Single submitter familial melanoma
c.632+18C>G Single submitter familial melanoma
c.632+19C>T Single submitter familial melanoma
c.632+20T>A Single submitter familial melanoma
c.632+20T>C Single submitter familial melanoma
c.632+7del Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.633-11T>A Single submitter familial melanoma
c.633-14C>G Single submitter familial melanoma
c.633-20T>A Single submitter familial melanoma
c.633-215G>A Single submitter
c.633-6C>A Single submitter familial melanoma
c.683+10C>A Single submitter familial melanoma
c.683+11A>G Single submitter familial melanoma
c.683+12A>G Single submitter familial melanoma
c.683+13C>T Single submitter familial melanoma
c.683+14A>G Single submitter familial melanoma
c.683+15T>C Single submitter familial melanoma
c.683+15T>G Single submitter familial melanoma
c.683+16G>A Single submitter familial melanoma
c.683+18G>C Single submitter familial melanoma
c.683+48T>G Single submitter
c.683+8A>C Single submitter familial melanoma
c.683+9C>T Single submitter familial melanoma
c.684-13C>A Single submitter familial melanoma
c.684-17T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.684-19G>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.684-20A>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.684-5C>A Single submitter familial melanoma
c.684-6C>T Single submitter familial melanoma
c.684-9C>A Single submitter familial melanoma
c.684-9C>T Single submitter familial melanoma
c.819+10A>T Single submitter familial melanoma
c.819+13G>C Single submitter familial melanoma
c.819+16G>A Single submitter familial melanoma
c.819+16G>T Single submitter familial melanoma
c.819+17T>G Single submitter familial melanoma
c.819+35T>C Single submitter
c.819+43G>T Single submitter
c.819+46G>A Single submitter
c.819+50_819+53del Single submitter
c.819+50G>C Single submitter
c.820-10C>T Single submitter familial melanoma
c.820-12C>G Single submitter familial melanoma
c.820-12C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.820-13C>G Single submitter familial melanoma
c.820-13C>T Single submitter familial melanoma
c.820-15del Single submitter familial melanoma
c.820-15T>A Single submitter familial melanoma
c.820-15T>G Single submitter familial melanoma
c.820-17T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.820-19C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.820-20A>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.820-6C>G Single submitter familial melanoma
c.820-7C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.820-8C>A Single submitter familial melanoma
c.820-8C>G Single submitter familial melanoma
c.820-8C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.820-9T>C Single submitter familial melanoma
c.-32G>T Single submitter
c.*12G>C Single submitter
p.Ala133= Single submitter familial melanoma
p.Ala182= Single submitter hereditary neoplastic syndrome
p.Ala192= Single submitter familial melanoma
p.Ala205= Single submitter hereditary neoplastic syndrome
p.Arg139= Single submitter familial melanoma
p.Arg163= Single submitter hereditary neoplastic syndrome
p.Arg181= Single submitter hereditary neoplastic syndrome
p.Arg209= Single submitter familial melanoma
p.Arg255= Single submitter familial melanoma
p.Arg38= Single submitter hereditary neoplastic syndrome
p.Arg55= Single submitter hereditary neoplastic syndrome
p.Asn301= Single submitter hereditary neoplastic syndrome
p.Asp228Ala Single submitter hereditary neoplastic syndrome ⚠
p.Asp236= Single submitter familial melanoma
p.Asp237= Single submitter familial melanoma
p.Asp241= Single submitter familial melanoma
p.Glu11= Single submitter familial melanoma
p.Glu265Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu303= Single submitter hereditary neoplastic syndrome
p.Glu67Asp Single submitter hereditary neoplastic syndrome
p.Glu7= Single submitter familial melanoma
p.Glu86Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly127= Single submitter hereditary neoplastic syndrome
p.Gly13= Single submitter familial melanoma
p.Gly152= Single submitter familial melanoma
p.Gly160= Single submitter hereditary neoplastic syndrome
p.Gly216= Single submitter hereditary neoplastic syndrome
p.Gly268= Single submitter familial melanoma
p.Gly46= Single submitter familial melanoma
p.Gly47Arg Single submitter hereditary neoplastic syndrome ⚠
p.His138= Single submitter hereditary neoplastic syndrome
p.His296Gln Single submitter hereditary neoplastic syndrome
p.Ile12= Single submitter hereditary neoplastic syndrome
p.Leu120= Single submitter familial melanoma
p.Leu187= Single submitter hereditary neoplastic syndrome
p.Leu229= Single submitter hereditary neoplastic syndrome
p.Leu232= Single submitter familial melanoma
p.Leu244= Single submitter familial melanoma
p.Leu272= Single submitter hereditary neoplastic syndrome
p.Leu276= Single submitter familial melanoma
p.Leu290= Single submitter familial melanoma
p.Leu295= Single submitter familial melanoma
p.Leu63= Single submitter hereditary neoplastic syndrome
p.Lys155= Single submitter familial melanoma
p.Lys211Arg Single submitter hereditary neoplastic syndrome
p.Lys297Glu Single submitter hereditary neoplastic syndrome
p.Phe124= Single submitter familial melanoma
p.Pro110= Single submitter hereditary neoplastic syndrome
p.Pro113= Single submitter familial melanoma
p.Pro143= Single submitter familial melanoma
p.Pro233= Single submitter familial melanoma
p.Pro239= Single submitter familial melanoma
p.Pro245= Single submitter hereditary neoplastic syndrome
p.Pro250= Single submitter hereditary neoplastic syndrome
p.Pro256= Single submitter familial melanoma
p.Pro280= Single submitter familial melanoma
p.Pro50= Single submitter familial melanoma
p.Ser150= Single submitter hereditary neoplastic syndrome
p.Ser267= Single submitter familial melanoma
p.Ser285= Single submitter familial melanoma
p.Ser4= Single submitter hereditary neoplastic syndrome
p.Ser81= Single submitter familial melanoma
p.Thr153= Single submitter hereditary neoplastic syndrome
p.Thr3Ala Single submitter hereditary neoplastic syndrome
p.Thr90= Single submitter familial melanoma
p.Tyr17= Single submitter familial melanoma
p.Val174Leu Single submitter hereditary neoplastic syndrome ⚠
p.Val200= Single submitter familial melanoma
p.Val261= Single submitter hereditary neoplastic syndrome
p.Val261Ile Single submitter hereditary neoplastic syndrome
p.Val77= Single submitter hereditary neoplastic syndrome
p.Val9= Single submitter familial melanoma
c.632+434A>G No assertion criteria hereditary neoplastic syndrome
p.His296= No assertion criteria CDK4-related disorder

Uncertain significance 637

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

c.354+3G>C Multiple submitters familial melanoma
c.354+5G>T Multiple submitters hereditary neoplastic syndrome
c.355-4C>G Multiple submitters familial melanoma
c.632+5G>A Multiple submitters hereditary neoplastic syndrome
c.819+4C>T Multiple submitters familial melanoma
c.-100G>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.-2G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.*246G>T Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
c.*319G>A Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3
p.Ala107Val Multiple submitters familial melanoma ⚠
p.Ala133Thr Multiple submitters familial melanoma ⚠
p.Ala162Asp Multiple submitters familial melanoma ⚠
p.Ala162Pro Multiple submitters familial melanoma ⚠
p.Ala192Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala205Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala248Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala248Gly Multiple submitters familial melanoma ⚠
p.Ala269Thr Multiple submitters familial melanoma ⚠
p.Ala286Ser Multiple submitters familial melanoma ⚠
p.Ala286Val Multiple submitters familial melanoma ⚠
p.Ala33Val Multiple submitters familial melanoma ⚠
p.Ala58_Arg62del Multiple submitters familial melanoma
p.Ala79Thr Multiple submitters familial melanoma ⚠
p.Arg101Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg122Gly Multiple submitters familial melanoma ⚠
p.Arg126Gly Multiple submitters familial melanoma ⚠
p.Arg126Thr Multiple submitters familial melanoma ⚠
p.Arg139Gln Multiple submitters familial melanoma ⚠
p.Arg139Gly Multiple submitters familial melanoma ⚠
p.Arg139Ter Multiple submitters familial melanoma
p.Arg181Gln Multiple submitters familial melanoma ⚠
p.Arg181Gly Multiple submitters familial melanoma ⚠
p.Arg181Ter Multiple submitters familial melanoma
p.Arg209His Multiple submitters familial melanoma ⚠
p.Arg240Gln Multiple submitters familial melanoma ⚠
p.Arg240Gly Multiple submitters familial melanoma ⚠
p.Arg240Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg240Ter Multiple submitters familial melanoma
p.Arg246Cys Multiple submitters familial melanoma ⚠
p.Arg246Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg246His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg252fs Multiple submitters familial melanoma
p.Arg255Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg283Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg283Ter Multiple submitters familial melanoma
p.Arg288Gln Multiple submitters familial melanoma ⚠
p.Arg288Gly Multiple submitters familial melanoma ⚠
p.Arg288Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg288Ter Multiple submitters hereditary neoplastic syndrome
p.Arg55Cys Multiple submitters familial melanoma ⚠
p.Arg55His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg5Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg62Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg62Ter Multiple submitters hereditary neoplastic syndrome
p.Arg73= Multiple submitters familial melanoma
p.Arg73Gln Multiple submitters familial melanoma ⚠
p.Arg73Trp Multiple submitters familial melanoma ⚠
p.Arg82Gln Multiple submitters familial melanoma ⚠
p.Arg82Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg85Gln Multiple submitters familial melanoma ⚠
p.Arg85Gly Multiple submitters familial melanoma ⚠
p.Arg85Trp Multiple submitters familial melanoma ⚠
p.Asn134Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn301His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn301Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn70Ser Multiple submitters familial melanoma ⚠
p.Asp119His Multiple submitters familial melanoma ⚠
p.Asp221Glu Multiple submitters familial melanoma ⚠
p.Asp228Glu Multiple submitters familial melanoma ⚠
p.Asp236fs Multiple submitters familial melanoma
p.Asp241His Multiple submitters familial melanoma ⚠
p.Asp298Gly Multiple submitters familial melanoma ⚠
p.Asp97His Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys135Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys202Ser Multiple submitters familial melanoma ⚠
p.Cys215Arg Multiple submitters familial melanoma ⚠
p.Cys215Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys78fs Multiple submitters familial melanoma
p.Gln123His Multiple submitters familial melanoma ⚠
p.Gln168His Multiple submitters familial melanoma ⚠
p.Gln168Ter Multiple submitters hereditary neoplastic syndrome
p.Gln188Lys Multiple submitters familial melanoma ⚠
p.Gln188Ter Multiple submitters familial melanoma
p.Glu115Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu115Asp Multiple submitters familial melanoma ⚠
p.Glu115Gln Multiple submitters familial melanoma ⚠
p.Glu115Lys Multiple submitters familial melanoma ⚠
p.Glu144Gly Multiple submitters familial melanoma ⚠
p.Glu184fs Multiple submitters hereditary neoplastic syndrome
p.Glu184Lys Multiple submitters familial melanoma ⚠
p.Glu265Lys Multiple submitters familial melanoma ⚠
p.Glu266Gln Multiple submitters familial melanoma ⚠
p.Glu266Gly Multiple submitters familial melanoma ⚠
p.Glu266Lys Multiple submitters familial melanoma ⚠
p.Glu274Gly Multiple submitters familial melanoma ⚠
p.Glu299Asp Multiple submitters familial melanoma ⚠
p.Glu299Gly Multiple submitters familial melanoma ⚠
p.Glu303Gln Multiple submitters familial melanoma ⚠
p.Glu56Ala Multiple submitters familial melanoma ⚠
p.Glu7Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu86fs Multiple submitters hereditary neoplastic syndrome
p.Glu86Val Multiple submitters familial melanoma ⚠
p.Gly111Asp Multiple submitters familial melanoma ⚠
p.Gly111Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly13Val Multiple submitters familial melanoma ⚠
p.Gly151Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly151Ser Multiple submitters familial melanoma ⚠
p.Gly15Ser Multiple submitters familial melanoma ⚠
p.Gly160Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly216Ala Multiple submitters familial melanoma ⚠
p.Gly224Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly224Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly247Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly253Arg Multiple submitters familial melanoma ⚠
p.Gly253Glu Multiple submitters familial melanoma ⚠
p.Gly268Glu Multiple submitters familial melanoma ⚠
p.Gly300fs Multiple submitters hereditary neoplastic syndrome
p.Gly43Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly44Glu Multiple submitters familial melanoma ⚠
p.Gly45Cys Multiple submitters familial melanoma ⚠
p.Gly46_Gly48dup Multiple submitters familial melanoma
p.Gly48del Multiple submitters hereditary neoplastic syndrome
p.Gly48Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.His281Asp Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3 ⚠
p.His292Arg Multiple submitters familial melanoma ⚠
p.His296Arg Multiple submitters familial melanoma ⚠
p.His30Tyr Multiple submitters familial melanoma ⚠
p.Ile117Val Multiple submitters familial melanoma ⚠
p.Ile164Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile203Val Multiple submitters familial melanoma ⚠
p.Ile230Thr Multiple submitters familial melanoma ⚠
p.Ile284Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu104Met Multiple submitters familial melanoma ⚠
p.Leu104Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu120Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu120Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu141Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu178Phe Multiple submitters familial melanoma ⚠
p.Leu244Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu273Val Multiple submitters familial melanoma ⚠
p.Leu290Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu290Pro Multiple submitters familial melanoma ⚠
p.Leu74Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys118Gln Multiple submitters familial melanoma ⚠
p.Lys211Thr Multiple submitters familial melanoma ⚠
p.Lys35Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Met197Thr Multiple submitters familial melanoma ⚠
p.Met207Lys Multiple submitters familial melanoma ⚠
p.Met264Val Multiple submitters familial melanoma ⚠
p.Met275Leu Multiple submitters familial melanoma ⚠
p.Met275Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met75Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe124Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe159fs Multiple submitters familial melanoma
p.Phe204Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe204Ser Multiple submitters familial melanoma ⚠
p.Phe227Leu Multiple submitters familial melanoma ⚠
p.Phe227Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe278Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe287Ser Multiple submitters familial melanoma ⚠
p.Phe31Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro108His Multiple submitters familial melanoma ⚠
p.Pro109Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro110Ser Multiple submitters familial melanoma ⚠
p.Pro113Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro173Thr Multiple submitters familial melanoma ⚠
p.Pro194His Multiple submitters melanoma, cutaneous malignant, susceptibility to, 3 ⚠
p.Pro194Leu Multiple submitters familial melanoma ⚠
p.Pro194Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro212Ser Multiple submitters familial melanoma ⚠
p.Pro234Ala Multiple submitters familial melanoma ⚠
p.Pro234Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro234Leu Multiple submitters familial melanoma ⚠
p.Pro234Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro239Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro245Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro250Thr Multiple submitters familial melanoma ⚠
p.Pro251Leu Multiple submitters familial melanoma ⚠
p.Pro254Ser Multiple submitters familial melanoma ⚠
p.Pro256Leu Multiple submitters familial melanoma ⚠
p.Pro262Thr Multiple submitters familial melanoma ⚠
p.Pro280Ser Multiple submitters familial melanoma ⚠
p.Pro302Leu Multiple submitters Hereditary cancer ⚠
p.Pro40Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro40Ser Multiple submitters familial melanoma ⚠
p.Ser150Gly Multiple submitters familial melanoma ⚠
p.Ser166Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser166Thr Multiple submitters familial melanoma ⚠
p.Ser189Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser199Arg Multiple submitters familial melanoma ⚠
p.Ser218Cys Multiple submitters familial melanoma ⚠
p.Ser267Ala Multiple submitters familial melanoma ⚠
p.Ser36Asn Multiple submitters familial melanoma ⚠
p.Ser4Phe Multiple submitters familial melanoma ⚠
p.Ser4Tyr Multiple submitters familial melanoma ⚠
p.Ser52Arg Multiple submitters familial melanoma ⚠
p.Ter304Leu Multiple submitters familial melanoma
p.Thr102Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr116Met Multiple submitters CDK4-related disorder ⚠
p.Thr149Ala Multiple submitters familial melanoma ⚠
p.Thr153Arg Multiple submitters familial melanoma ⚠
p.Thr153Ile Multiple submitters familial melanoma ⚠
p.Thr177Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr193Ser Multiple submitters familial melanoma ⚠
p.Thr19Ala Multiple submitters familial melanoma ⚠
p.Thr90Ile Multiple submitters familial melanoma ⚠
p.Tyr103Ser Multiple submitters familial melanoma ⚠
p.Tyr165Cys Multiple submitters familial melanoma ⚠
p.Tyr167Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr17Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr17His Multiple submitters familial melanoma ⚠
p.Tyr191Asn Multiple submitters familial melanoma ⚠
p.Tyr191Cys Multiple submitters familial melanoma ⚠
p.Tyr294Cys Multiple submitters familial melanoma ⚠
p.Val137Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val148Leu Multiple submitters familial melanoma ⚠
p.Val154Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val154Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val174Met Multiple submitters familial melanoma ⚠
p.Val175Ile Multiple submitters familial melanoma ⚠
p.Val185Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val195Met Multiple submitters familial melanoma ⚠
p.Val200Ala Multiple submitters familial melanoma ⚠
p.Val200Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Val242Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val242Ile Multiple submitters familial melanoma ⚠
p.Val257Glu Multiple submitters familial melanoma ⚠
p.Val260Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val261Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val37Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val39Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val54Ile Multiple submitters familial melanoma ⚠
p.Val77Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val89Ile Multiple submitters familial melanoma ⚠
p.Val96Ala Multiple submitters familial melanoma ⚠
c.218+12G>A Single submitter familial melanoma
c.218+1G>A Single submitter hereditary neoplastic syndrome
c.218+3G>A Single submitter familial melanoma
c.218+6_218+7delinsGT Single submitter familial melanoma
c.219-10C>G Single submitter familial melanoma
c.219-1G>C Single submitter familial melanoma
c.219-3C>A Single submitter hereditary neoplastic syndrome
c.354+3G>T Single submitter hereditary neoplastic syndrome
c.354+5G>A Single submitter familial melanoma
c.354+6T>A Single submitter familial melanoma
c.522+13A>T Single submitter familial melanoma
c.522+1G>A Single submitter hereditary neoplastic syndrome
c.522+4A>G Single submitter hereditary neoplastic syndrome
c.522+6T>C Single submitter familial melanoma
c.523-37_523-17del Single submitter familial melanoma
c.632+1_632+33del Single submitter familial melanoma
c.632+7G>T Single submitter familial melanoma
c.633-3T>A Single submitter hereditary neoplastic syndrome
c.633-3T>C Single submitter
c.633-3T>G Single submitter hereditary neoplastic syndrome
c.683+1G>A Single submitter hereditary neoplastic syndrome
c.684-1G>A Single submitter hereditary neoplastic syndrome
c.684-3C>T Single submitter hereditary neoplastic syndrome
c.684-4dup Single submitter hereditary neoplastic syndrome
c.819+19G>A Single submitter familial melanoma
c.819+5T>G Single submitter hereditary neoplastic syndrome
c.819+6G>A Single submitter familial melanoma
c.820-3C>T Single submitter familial melanoma
c.-19-1G>T Single submitter
c.-19G>A Single submitter
c.-4G>C Single submitter hereditary neoplastic syndrome
c.-54C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.-55A>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.-5T>C Single submitter hereditary neoplastic syndrome
c.-74C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*17C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*271A>G Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*2C>T Single submitter
c.*333T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*424G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*479T>C Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*5T>C Single submitter familial melanoma
c.*689C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*690G>A Single submitter melanoma, cutaneous malignant, susceptibility to, 3
c.*734C>T Single submitter melanoma, cutaneous malignant, susceptibility to, 3
p.Ala107Thr Single submitter familial melanoma ⚠
p.Ala10fs Single submitter familial melanoma
p.Ala10Thr Single submitter familial melanoma ⚠
p.Ala114Pro Single submitter familial melanoma ⚠
p.Ala114Thr Single submitter familial melanoma ⚠
p.Ala157Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala157Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala162Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala162Thr Single submitter familial melanoma ⚠
p.Ala16Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala182Ser Single submitter familial melanoma ⚠
p.Ala205Val Single submitter familial melanoma ⚠
p.Ala220Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala23Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala248fs Single submitter familial melanoma
p.Ala248Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala248Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala269Ser Single submitter familial melanoma ⚠
p.Ala286Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala289fs Single submitter hereditary neoplastic syndrome