ADH5 — 37 ClinVar variants
All ClinVar germline ADH5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
4 Pathogenic · 2 Likely benign · 31 Uncertain significance
Full ADH5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ADH5 p.Arg36Gln Uncertain significance Single submitter
- ADH5 p.Asn3Lys Uncertain significance Single submitter
- ADH5 p.Asp223Asn Uncertain significance Single submitter
- ADH5 p.Cys240Tyr Uncertain significance Single submitter
- ADH5 p.Cys268Tyr Uncertain significance Single submitter
- ADH5 p.Cys60Gly Uncertain significance Single submitter
- ADH5 p.Gly69Asp Uncertain significance Single submitter
- ADH5 p.Ile208Thr Uncertain significance Single submitter
- ADH5 p.Ile368Val Uncertain significance Single submitter
- ADH5 p.Leu200Val Uncertain significance Single submitter
- ADH5 p.Lys373Asn Uncertain significance Single submitter
- ADH5 p.Pro30Thr Uncertain significance Single submitter
- ADH5 p.Thr131Asn Uncertain significance Single submitter
- ADH5 p.Thr317Asn Uncertain significance Single submitter
- ADH5 p.Thr347Asn Uncertain significance Single submitter
- ADH5 p.Tyr93His Uncertain significance Single submitter
- ADH5 p.Val184Met Uncertain significance Single submitter
- ADH5 p.Val346Glu Uncertain significance Single submitter
- ADH5 p.Val372Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- ADH5 p.Asn225Ser Uncertain significance Single submitter
- ADH5 p.Gln251His Uncertain significance Single submitter
- ADH5 p.Ile155Thr Uncertain significance Single submitter
- ADH5 p.Ile22Val Uncertain significance Single submitter
- ADH5 p.Met141Val Uncertain significance Single submitter
- ADH5 p.Phe306Leu Uncertain significance Single submitter
- ADH5 p.Thr131Ile Uncertain significance Single submitter
- ADH5 p.Thr186Ala Uncertain significance Single submitter
- ADH5 p.Val291Met Uncertain significance Single submitter
- ADH5 p.Val294Ile Uncertain significance Single submitter
All ADH5 variants
Pathogenic 4
- c.114+1G>A Single submitter AMED syndrome, digenic
- p.Ala278Pro Single submitter AMED syndrome, digenic
- c.564+1G>A No assertion criteria AMED syndrome, digenic
- p.Gly321_Trp322insTer No assertion criteria AMED syndrome, digenic
Likely benign 2
- p.Thr178= Multiple submitters
- c.826-8G>T Single submitter
Uncertain significance 31
- p.Arg218Leu Single submitter
- p.Arg36Gln Single submitter ⚠
- p.Asn225Ser Single submitter ⚠
- p.Asn3Lys Single submitter ⚠
- p.Asp223Asn Single submitter ⚠
- p.Cys240Tyr Single submitter ⚠
- p.Cys268Tyr Single submitter ⚠
- p.Cys60Gly Single submitter ⚠
- p.Gln251His Single submitter ⚠
- p.Gly69Asp Single submitter ⚠
- p.Ile155Thr Single submitter ⚠
- p.Ile208Thr Single submitter ⚠
- p.Ile22Val Single submitter ⚠
- p.Ile368Val Single submitter ⚠
- p.Leu200Val Single submitter ⚠
- p.Lys373Asn Single submitter ⚠
- p.Met141Val Single submitter ⚠
- p.Phe306Leu Single submitter ⚠
- p.Pro30Thr Single submitter ⚠
- p.Thr131Asn Single submitter ⚠
- p.Thr131Ile Single submitter ⚠
- p.Thr186Ala Single submitter ⚠
- p.Thr313_Trp314del Single submitter AMED syndrome, digenic
- p.Thr317Asn Single submitter ⚠
- p.Thr347Asn Single submitter ⚠
- p.Tyr93His Single submitter ⚠
- p.Val184Met Single submitter ⚠
- p.Val291Met Single submitter ⚠
- p.Val294Ile Single submitter ⚠
- p.Val346Glu Single submitter ⚠
- p.Val372Ile Single submitter ⚠