HCK — 100 ClinVar variants
All ClinVar germline HCK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 2 Conflicting · 7 Benign · 2 Benign/Likely benign · 18 Likely benign · 69 Uncertain significance
Full HCK gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HCK p.Glu75Gln Uncertain significance Multiple submitters
- HCK p.Leu139Val Uncertain significance Multiple submitters
- HCK p.Arg123Gln Uncertain significance Single submitter
- HCK p.Arg151Gln Uncertain significance Single submitter
- HCK p.Arg383Gln Uncertain significance Single submitter
- HCK p.Arg478Cys Uncertain significance Single submitter
- HCK p.Arg492His Uncertain significance Single submitter
- HCK p.Asn496Thr Uncertain significance Single submitter
- HCK p.Asn67Ser Uncertain significance Single submitter
- HCK p.Asp231Asn Uncertain significance Single submitter
- HCK p.Gln220His Uncertain significance Single submitter
- HCK p.Glu17Lys Uncertain significance Single submitter
- HCK p.Glu305Val Uncertain significance Single submitter
- HCK p.Gly11Ser Uncertain significance Single submitter
- HCK p.Gly34Val Uncertain significance Single submitter
- HCK p.His47Gln Uncertain significance Single submitter
- HCK p.His94Gln Uncertain significance Single submitter
- HCK p.Ile436Val Uncertain significance Single submitter
- HCK p.Ile507Asn Uncertain significance Single submitter
- HCK p.Ile59Leu Uncertain significance Single submitter
- HCK p.Ile59Ser Uncertain significance Single submitter
- HCK p.Ile92Val Uncertain significance Single submitter
- HCK p.Lys283Asn Uncertain significance Single submitter
- HCK p.Lys495Arg Uncertain significance Single submitter
- HCK p.Met490Thr Uncertain significance Single submitter
- HCK p.Phe208Val Uncertain significance Single submitter
- HCK p.Pro61Leu Uncertain significance Single submitter
- HCK p.Pro71Gln Uncertain significance Single submitter
- HCK p.Ser211Ala Uncertain significance Single submitter
- HCK p.Ser347Ile Uncertain significance Single submitter
- HCK p.Ser351Arg Uncertain significance Single submitter
- HCK p.Ser5Pro Uncertain significance Single submitter
- HCK p.Val195Met Uncertain significance Single submitter
- HCK p.Val323Met Uncertain significance Single submitter
-
HCK p.Gly232Arg
Uncertain significance
No assertion criteria
HCK-related condition
Predictors split 32
The independent predictors disagree with each other — read with care.
- HCK p.Arg123Trp Uncertain significance Multiple submitters
- HCK p.Ala154Thr Uncertain significance Single submitter
- HCK p.Ala370Thr Likely benign Single submitter
- HCK p.Arg118Gln Uncertain significance Single submitter
- HCK p.Arg135Cys Uncertain significance Single submitter
- HCK p.Arg156His Uncertain significance Single submitter
- HCK p.Arg259Gln Uncertain significance Single submitter
- HCK p.Arg472Cys Uncertain significance Single submitter
- HCK p.Arg472His Likely benign Single submitter
- HCK p.Arg497His Uncertain significance Single submitter
- HCK p.Asn282Ser Uncertain significance Single submitter
- HCK p.Asp188His Uncertain significance Single submitter
- HCK p.Asp348His Uncertain significance Single submitter
- HCK p.Gln353His Uncertain significance Single submitter
- HCK p.Glu113Gln Uncertain significance Single submitter
- HCK p.Glu140Gln Uncertain significance Single submitter
- HCK p.Glu327Asp Uncertain significance Single submitter
- HCK p.Glu410Ala Uncertain significance Single submitter
- HCK p.Glu499Gln Uncertain significance Single submitter
- HCK p.Glu90Lys Uncertain significance Single submitter
- HCK p.Ile359Thr Uncertain significance Single submitter
- HCK p.Ile489Val Uncertain significance Single submitter
- HCK p.Pro189Thr Uncertain significance Single submitter
- HCK p.Pro477Ser Uncertain significance Single submitter
- HCK p.Ser179Asn Uncertain significance Single submitter
- HCK p.Ser390Ala Uncertain significance Single submitter
- HCK p.Thr215Ile Uncertain significance Single submitter
- HCK p.Thr291Met Conflicting Single submitter
- HCK p.Val184Met Uncertain significance Single submitter
- HCK p.Val394Met Uncertain significance Single submitter
- HCK p.Val440Ile Uncertain significance Single submitter
- HCK p.Val83Met Uncertain significance Single submitter
All HCK variants
Pathogenic 1
- p.Tyr515Ter No assertion criteria autoinflammation with pulmonary and cutaneous vasculitis
Likely pathogenic 1
- p.Glu519Ter Single submitter
Conflicting classifications of pathogenicity 2
- p.Ser5Thr Single submitter ⚠
- p.Thr291Met Single submitter ⚠
Benign 7
- p.Asn64= Multiple submitters
- c.1015+8G>A Single submitter
- c.1379-14C>T Single submitter
- c.428+13T>C Single submitter
- c.532+10G>A Single submitter
- p.His94= Single submitter
- p.Ser45= Single submitter
Benign/Likely benign 2
- p.Ala44Thr Multiple submitters
- p.Asp231= Multiple submitters
Likely benign 18
- p.Glu110= Multiple submitters
- p.Pro49Ala Multiple submitters
- c.1C>T Single submitter
- c.226+12C>T Single submitter
- c.682+11C>T Single submitter
- c.835+11A>G Single submitter
- p.Ala370Thr Single submitter ⚠
- p.Arg190Gln Single submitter
- p.Arg472His Single submitter ⚠
- p.Gly33Arg Single submitter
- p.Gly62Glu Single submitter
- p.Ile170= Single submitter
- p.Met105Leu Single submitter
- p.Met242Val Single submitter
- p.Pro10= Single submitter
- p.Tyr127= Single submitter
- p.Tyr453= Single submitter
- p.Val299= Single submitter
Uncertain significance 69
- p.Arg123Trp Multiple submitters ⚠
- p.Glu75Gln Multiple submitters ⚠
- p.Leu139Val Multiple submitters ⚠
- c.1016-7C>T Single submitter
- c.1093-3C>T Single submitter
- p.Ala154Thr Single submitter ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg123Gln Single submitter ⚠
- p.Arg135Cys Single submitter ⚠
- p.Arg151Gln Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg259Gln Single submitter ⚠
- p.Arg383Gln Single submitter ⚠
- p.Arg472Cys Single submitter ⚠
- p.Arg478Cys Single submitter ⚠
- p.Arg492His Single submitter ⚠
- p.Arg497His Single submitter ⚠
- p.Asn282Ser Single submitter ⚠
- p.Asn496Thr Single submitter ⚠
- p.Asn67Ser Single submitter ⚠
- p.Asp188His Single submitter ⚠
- p.Asp231Asn Single submitter ⚠
- p.Asp348His Single submitter ⚠
- p.Gln220His Single submitter ⚠
- p.Gln353His Single submitter ⚠
- p.Glu113Gln Single submitter ⚠
- p.Glu140Gln Single submitter ⚠
- p.Glu17Lys Single submitter ⚠
- p.Glu305Val Single submitter ⚠
- p.Glu327Asp Single submitter ⚠
- p.Glu410Ala Single submitter ⚠
- p.Glu499Gln Single submitter ⚠
- p.Glu90Lys Single submitter ⚠
- p.Gly11Ser Single submitter ⚠
- p.Gly126fs Single submitter
- p.Gly34Val Single submitter ⚠
- p.His47Gln Single submitter ⚠
- p.His94Gln Single submitter ⚠
- p.Ile359Thr Single submitter ⚠
- p.Ile436Val Single submitter ⚠
- p.Ile489Val Single submitter ⚠
- p.Ile507Asn Single submitter ⚠
- p.Ile59Leu Single submitter ⚠
- p.Ile59Ser Single submitter ⚠
- p.Ile92Val Single submitter ⚠
- p.Lys283Asn Single submitter ⚠
- p.Lys495Arg Single submitter ⚠
- p.Met490Thr Single submitter ⚠
- p.Phe208Val Single submitter ⚠
- p.Pro189Thr Single submitter ⚠
- p.Pro477Ser Single submitter ⚠
- p.Pro61Leu Single submitter ⚠
- p.Pro71Gln Single submitter ⚠
- p.Ser179Asn Single submitter ⚠
- p.Ser211Ala Single submitter ⚠
- p.Ser347Ile Single submitter ⚠
- p.Ser351Arg Single submitter ⚠
- p.Ser390Ala Single submitter ⚠
- p.Ser5Pro Single submitter ⚠
- p.Thr215Ile Single submitter ⚠
- p.Val184Met Single submitter ⚠
- p.Val195Met Single submitter ⚠
- p.Val323Met Single submitter ⚠
- p.Val394Met Single submitter ⚠
- p.Val440Ile Single submitter ⚠
- p.Val83Met Single submitter ⚠
- c.3G>T No assertion criteria HCK-related condition
- c.62+1798A>G No assertion criteria HCK-related condition
- p.Gly232Arg No assertion criteria HCK-related condition ⚠