EFHD1 — 30 ClinVar variants
All ClinVar germline EFHD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Likely benign · 29 Uncertain significance
Full EFHD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EFHD1 p.Ala19Asp Uncertain significance Single submitter
- EFHD1 p.Ala49Pro Uncertain significance Single submitter
- EFHD1 p.Asn236Asp Uncertain significance Single submitter
- EFHD1 p.Glu220Lys Uncertain significance Single submitter
- EFHD1 p.Lys100Arg Uncertain significance Single submitter
- EFHD1 p.Met119Val Uncertain significance Single submitter
- EFHD1 p.Phe109Leu Uncertain significance Single submitter
- EFHD1 p.Phe205Ser Uncertain significance Single submitter
- EFHD1 p.Ser201Leu Uncertain significance Single submitter
- EFHD1 p.Ser97Gly Uncertain significance Single submitter
- EFHD1 p.Val77Ile Uncertain significance Single submitter
Predictors split 19
The independent predictors disagree with each other — read with care.
- EFHD1 p.Ala124Thr Uncertain significance Single submitter
- EFHD1 p.Ala159Val Uncertain significance Single submitter
- EFHD1 p.Arg13Trp Uncertain significance Single submitter
- EFHD1 p.Arg149Gln Uncertain significance Single submitter
- EFHD1 p.Arg218Gln Likely benign Single submitter
- EFHD1 p.Arg218Trp Uncertain significance Single submitter
- EFHD1 p.Arg224Gly Uncertain significance Single submitter
- EFHD1 p.Arg226Cys Uncertain significance Single submitter
- EFHD1 p.Asn190Ile Uncertain significance Single submitter
- EFHD1 p.Asp111Asn Uncertain significance Single submitter
- EFHD1 p.Gln58Pro Uncertain significance Single submitter
- EFHD1 p.Glu20Lys Uncertain significance Single submitter
- EFHD1 p.Glu54Asp Uncertain significance Single submitter
- EFHD1 p.Gly130Ser Uncertain significance Single submitter
- EFHD1 p.Ile135Val Uncertain significance Single submitter
- EFHD1 p.Lys100Thr Uncertain significance Single submitter
- EFHD1 p.Pro36Ser Uncertain significance Single submitter
- EFHD1 p.Pro40His Uncertain significance Single submitter
- EFHD1 p.Pro80Ser Uncertain significance Single submitter
All EFHD1 variants
Likely benign 1
- p.Arg218Gln Single submitter ⚠
Uncertain significance 29
- p.Ala124Thr Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala19Asp Single submitter ⚠
- p.Ala49Pro Single submitter ⚠
- p.Arg13Trp Single submitter ⚠
- p.Arg149Gln Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Arg224Gly Single submitter ⚠
- p.Arg226Cys Single submitter ⚠
- p.Asn190Ile Single submitter ⚠
- p.Asn236Asp Single submitter ⚠
- p.Asp111Asn Single submitter ⚠
- p.Gln58Pro Single submitter ⚠
- p.Glu20Lys Single submitter ⚠
- p.Glu220Lys Single submitter ⚠
- p.Glu54Asp Single submitter ⚠
- p.Gly130Ser Single submitter ⚠
- p.Ile135Val Single submitter ⚠
- p.Lys100Arg Single submitter ⚠
- p.Lys100Thr Single submitter ⚠
- p.Met119Val Single submitter ⚠
- p.Phe109Leu Single submitter ⚠
- p.Phe205Ser Single submitter ⚠
- p.Pro36Ser Single submitter ⚠
- p.Pro40His Single submitter ⚠
- p.Pro80Ser Single submitter ⚠
- p.Ser201Leu Single submitter ⚠
- p.Ser97Gly Single submitter ⚠
- p.Val77Ile Single submitter ⚠