FAHD1 — 42 ClinVar variants
All ClinVar germline FAHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
42 Uncertain significance
Full FAHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FAHD1 p.Ala119Glu Uncertain significance Single submitter
- FAHD1 p.Ala124Ser Uncertain significance Single submitter
- FAHD1 p.Arg5Gly Uncertain significance Single submitter
- FAHD1 p.Arg63Leu Uncertain significance Single submitter
- FAHD1 p.Gly182Arg Uncertain significance Single submitter
- FAHD1 p.Gly182Glu Uncertain significance Single submitter
- FAHD1 p.Gly182Val Uncertain significance Single submitter
- FAHD1 p.Gly205Asp Uncertain significance Single submitter
- FAHD1 p.His207Tyr Uncertain significance Single submitter
- FAHD1 p.His66Leu Uncertain significance Single submitter
- FAHD1 p.Ile170Leu Uncertain significance Single submitter
- FAHD1 p.Ile170Val Uncertain significance Single submitter
- FAHD1 p.Leu57Ile Uncertain significance Single submitter
- FAHD1 p.Lys112Glu Uncertain significance Single submitter
- FAHD1 p.Met58Val Uncertain significance Single submitter
- FAHD1 p.Pro127Ser Uncertain significance Single submitter
- FAHD1 p.Pro39Ser Uncertain significance Single submitter
- FAHD1 p.Thr178Ser Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All FAHD1 variants
Uncertain significance 42
- p.Ala119Glu Single submitter ⚠
- p.Ala124Ser Single submitter ⚠
- p.Ala204Ser Single submitter
- p.Ala204Thr Single submitter
- p.Arg5Gly Single submitter ⚠
- p.Arg63Cys Single submitter
- p.Arg63Leu Single submitter ⚠
- p.Arg78Ser Single submitter
- p.Asp104Glu Single submitter
- p.Asp26Ala Single submitter
- p.Cys97Ser Single submitter
- p.Gly157Asp Single submitter
- p.Gly157Ser Single submitter
- p.Gly182Arg Single submitter ⚠
- p.Gly182Glu Single submitter ⚠
- p.Gly182Val Single submitter ⚠
- p.Gly205Asp Single submitter ⚠
- p.His207Tyr Single submitter ⚠
- p.His66Leu Single submitter ⚠
- p.Ile170Leu Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Ile17Val Single submitter ⚠
- p.Leu57Ile Single submitter ⚠
- p.Leu7Ser Single submitter
- p.Lys112Glu Single submitter ⚠
- p.Lys148Arg Single submitter
- p.Lys77Asn Single submitter
- p.Met31Thr Single submitter ⚠
- p.Met58Val Single submitter ⚠
- p.Phe122Leu Single submitter
- p.Pro127Ser Single submitter ⚠
- p.Pro167Leu Single submitter
- p.Pro167Ser Single submitter ⚠
- p.Pro39Ser Single submitter ⚠
- p.Thr178Ile Single submitter
- p.Thr178Ser Single submitter ⚠
- p.Thr62Pro Single submitter
- p.Tyr172Cys Single submitter ⚠
- p.Tyr49Cys Single submitter
- p.Val105Ala Single submitter
- p.Val193Ile Single submitter
- p.Val82Asp Single submitter