HDHD5 — 93 ClinVar variants

All ClinVar germline HDHD5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 78 flagged for review →

2 Benign · 10 Likely benign · 81 Uncertain significance

Full HDHD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 78

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 lean, ClinVar uncertain 64

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

Predictors split 14

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

All HDHD5 variants

Benign 2

p.Arg369Ser Multiple submitters
p.Val232Ile Single submitter

Likely benign 10

p.Arg416Cys Multiple submitters
p.Ala32Ser Single submitter
p.Arg152= Single submitter
p.Arg152Gln Single submitter
p.Arg306Gln Single submitter
p.Arg416His Single submitter
p.Glu110Lys Single submitter
p.Pro182Leu Single submitter
p.Val142Leu Single submitter
p.Val319Ile Single submitter

Uncertain significance 81

p.Ala223Thr Single submitter ⚠
p.Ala24Pro Single submitter ⚠
p.Ala25Val Single submitter ⚠
p.Ala2Thr Single submitter ⚠
p.Ala2Val Single submitter ⚠
p.Ala342Ser Single submitter ⚠
p.Ala3Gly Single submitter ⚠
p.Ala66Val Single submitter ⚠
p.Arg133Trp Single submitter ⚠
p.Arg14Gly Single submitter ⚠
p.Arg161Trp Single submitter
p.Arg174Trp Single submitter ⚠
p.Arg175Trp Single submitter ⚠
p.Arg19Gln Single submitter ⚠
p.Arg200Cys Single submitter ⚠
p.Arg30Gly Single submitter ⚠
p.Arg33His Single submitter ⚠
p.Arg59Trp Single submitter ⚠
p.Arg82Gln Single submitter ⚠
p.Arg82Trp Single submitter ⚠
p.Asn323Thr Single submitter ⚠
p.Cys17Ser Single submitter ⚠
p.Cys362Tyr Single submitter
p.Cys6Arg Single submitter ⚠
p.Cys6Phe Single submitter ⚠
p.Gln101Glu Single submitter ⚠
p.Gln101His Single submitter ⚠
p.Gln286His Single submitter ⚠
p.Gln28Pro Single submitter ⚠
p.Gln96His Single submitter ⚠
p.Glu159Ala Single submitter ⚠
p.Glu202Asp Single submitter ⚠
p.Glu270Gln Single submitter ⚠
p.Gly196Ala Single submitter ⚠
p.Gly219Arg Single submitter ⚠
p.Gly278Asp Single submitter ⚠
p.Gly300Ser Single submitter ⚠
p.Gly336Ala Single submitter ⚠
p.Gly341Glu Single submitter ⚠
p.Gly343Arg Single submitter ⚠
p.Gly387Arg Single submitter ⚠
p.Gly387Glu Single submitter ⚠
p.His130Gln Single submitter ⚠
p.His402Gln Single submitter ⚠
p.Leu10Phe Single submitter ⚠
p.Leu16Phe Single submitter ⚠
p.Leu16Val Single submitter ⚠
p.Leu413Val Single submitter ⚠
p.Leu68Val Single submitter ⚠
p.Leu95Phe Single submitter ⚠
p.Met143Leu Single submitter ⚠
p.Met162Ile Single submitter ⚠
p.Met169Ile Single submitter ⚠
p.Met169Val Single submitter ⚠
p.Met247Ile Single submitter ⚠
p.Met316Val Single submitter ⚠
p.Met398Thr Single submitter ⚠
p.Phe186Leu Single submitter ⚠
p.Phe415Leu Single submitter ⚠
p.Pro187Arg Single submitter ⚠
p.Pro226Ala Single submitter ⚠
p.Pro226Leu Single submitter ⚠
p.Pro368Thr Single submitter ⚠
p.Pro384Ala Single submitter ⚠
p.Pro40Arg Single submitter ⚠
p.Pro65Leu Single submitter
p.Ser281Gly Single submitter ⚠
p.Ser394Asn Single submitter ⚠
p.Ser401Phe Single submitter ⚠
p.Thr254Ile Single submitter ⚠
p.Thr333Met Single submitter ⚠
p.Thr363Ile Single submitter ⚠
p.Thr374Met Single submitter ⚠
p.Trp4Gly Single submitter ⚠
p.Tyr309Cys Single submitter ⚠
p.Val142Met Single submitter ⚠
p.Val155Ile Single submitter ⚠
p.Val365Ile Single submitter ⚠
p.Val403Leu Single submitter ⚠
p.Val407Met Single submitter ⚠
p.Val58Ala Single submitter ⚠