HEXD — 129 ClinVar variants

All ClinVar germline HEXD variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

1 Conflicting · 3 Benign · 21 Likely benign · 104 Uncertain significance

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

⚑ Evidence disagreements 84

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.

HEXD p.Arg243Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 66

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 17

The independent predictors disagree with each other — read with care.

All HEXD variants

Conflicting classifications of pathogenicity 1

p.Arg243Gln Single submitter ⚠

Benign 3

c.632-13G>T Multiple submitters
p.Ile145Val Multiple submitters
p.Thr5= Multiple submitters

Likely benign 21

c.1062-36C>T Single submitter
c.*89G>A Single submitter
p.Ala187Thr Single submitter
p.Ala415= Single submitter
p.Ala416= Single submitter
p.Arg161Gln Single submitter
p.Arg189His Single submitter
p.Arg242Gln Single submitter
p.Arg242Trp Single submitter ⚠
p.Arg327His Single submitter
p.Asp481= Single submitter
p.Gln400Arg Single submitter
p.Glu119Lys Single submitter
p.Gly285Arg Single submitter ⚠
p.Gly77Arg Single submitter
p.Pro247Leu Single submitter
p.Pro406= Single submitter
p.Pro472= Single submitter
p.Thr170= Single submitter
p.Thr226Ala Single submitter
p.Thr350Met Single submitter

Uncertain significance 104

c.1061+14A>G Single submitter
c.1061+36C>T Single submitter
c.1061+6C>T Single submitter
c.1062-16G>C Single submitter
c.1062-40C>G Single submitter
c.1062-40C>T Single submitter
c.*162G>A Single submitter
c.*200G>A Single submitter
c.*30T>C Single submitter
c.*54G>A Single submitter
c.*92G>A Single submitter
p.Ala103Thr Single submitter ⚠
p.Ala128Thr Single submitter ⚠
p.Ala140Gly Single submitter ⚠
p.Ala158Val Single submitter ⚠
p.Ala180Val Single submitter ⚠
p.Ala211Val Single submitter ⚠
p.Ala336Val Single submitter ⚠
p.Ala35Glu Single submitter ⚠
p.Ala35Val Single submitter ⚠
p.Ala367= Single submitter
p.Ala382= Single submitter
p.Ala382Thr Single submitter ⚠
p.Ala38Val Single submitter ⚠
p.Ala416Val Single submitter ⚠
p.Ala433= Single submitter
p.Ala442= Single submitter
p.Ala470= Single submitter
p.Ala470Val Single submitter ⚠
p.Ala63Thr Single submitter ⚠
p.Ala63Val Single submitter ⚠
p.Arg142Gln Single submitter ⚠
p.Arg160Cys Single submitter ⚠
p.Arg179Gln Single submitter ⚠
p.Arg188Trp Single submitter ⚠
p.Arg202Gln Single submitter ⚠
p.Arg401Gln Single submitter ⚠
p.Arg457Gln Single submitter ⚠
p.Asn364Lys Single submitter ⚠
p.Asp203Glu Single submitter ⚠
p.Cys308Trp Single submitter ⚠
p.Gln291Arg Single submitter ⚠
p.Gln371His Single submitter ⚠
p.Glu135Gly Single submitter ⚠
p.Glu219Lys Single submitter ⚠
p.Glu309Lys Single submitter ⚠
p.Glu339Gly Single submitter ⚠
p.Glu52Asp Single submitter ⚠
p.Glu52Lys Single submitter ⚠
p.Gly146Arg Single submitter ⚠
p.Gly171Arg Single submitter ⚠
p.Gly184Ser Single submitter ⚠
p.Gly18Arg Single submitter ⚠
p.Gly213Arg Single submitter ⚠
p.Gly233Arg Single submitter ⚠
p.Gly233Ser Single submitter ⚠
p.Gly245Asp Single submitter ⚠
p.Gly314Glu Single submitter ⚠
p.Gly343Arg Single submitter ⚠
p.His144Tyr Single submitter ⚠
p.His177Pro Single submitter ⚠
p.His375Gln Single submitter ⚠
p.Leu136Pro Single submitter ⚠
p.Leu195Pro Single submitter ⚠
p.Leu222Val Single submitter ⚠
p.Leu57Pro Single submitter ⚠
p.Lys234Arg Single submitter ⚠
p.Lys349Asn Single submitter ⚠
p.Met178Val Single submitter ⚠
p.Met200Val Single submitter ⚠
p.Met48Arg Single submitter ⚠
p.Met93Ile Single submitter ⚠
p.Phe30Ile Single submitter ⚠
p.Phe330Leu Single submitter ⚠
p.Phe33Cys Single submitter ⚠
p.Phe33Leu Single submitter
p.Pro220Leu Single submitter ⚠
p.Pro266Ser Single submitter ⚠
p.Pro267Ala Single submitter ⚠
p.Pro440Leu Single submitter ⚠
p.Pro471= Single submitter
p.Pro472Leu Single submitter ⚠
p.Pro474Leu Single submitter ⚠
p.Pro478= Single submitter
p.Pro50Ser Single submitter ⚠
p.Ser176Leu Single submitter ⚠
p.Ser191Thr Single submitter ⚠
p.Ser253Arg Single submitter ⚠
p.Ser262Arg Single submitter ⚠
p.Ser378Arg Single submitter ⚠
p.Ser379Tyr Single submitter ⚠
p.Ser469= Single submitter
p.Thr100Met Single submitter ⚠
p.Thr370= Single submitter
p.Thr476Ile Single submitter ⚠
p.Trp223Leu Single submitter ⚠
p.Tyr25His Single submitter ⚠
p.Tyr45Phe Single submitter ⚠
p.Val133Leu Single submitter ⚠
p.Val150Ile Single submitter ⚠
p.Val185Met Single submitter ⚠
p.Val265Met Single submitter ⚠
p.Val380= Single submitter
p.Val468= Single submitter