EHF — 51 ClinVar variants
All ClinVar germline EHF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
1 Benign · 6 Likely benign · 44 Uncertain significance
Full EHF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EHF p.Arg168Gln Uncertain significance Single submitter
- EHF p.Arg168Gly Uncertain significance Single submitter
- EHF p.Arg214His Uncertain significance Single submitter
- EHF p.Arg293Gln Uncertain significance Single submitter
- EHF p.Arg293Leu Uncertain significance Single submitter
- EHF p.Arg296Lys Uncertain significance Single submitter
- EHF p.Arg95Gln Uncertain significance Single submitter
- EHF p.Asn147Ser Uncertain significance Single submitter
- EHF p.Asn32Ser Uncertain significance Single submitter
- EHF p.Asp192Val Uncertain significance Single submitter
- EHF p.Glu297Lys Uncertain significance Single submitter
- EHF p.Gly14Asp Uncertain significance Single submitter
- EHF p.His198Asn Uncertain significance Single submitter
- EHF p.His19Gln Uncertain significance Single submitter
- EHF p.His19Tyr Uncertain significance Single submitter
- EHF p.His61Asn Uncertain significance Single submitter
- EHF p.Ile2Val Uncertain significance Single submitter
- EHF p.Leu17Val Uncertain significance Single submitter
- EHF p.Leu18Phe Uncertain significance Single submitter
- EHF p.Lys164Glu Uncertain significance Single submitter
- EHF p.Lys196Thr Uncertain significance Single submitter
- EHF p.Met187Ile Uncertain significance Single submitter
- EHF p.Phe38Leu Uncertain significance Single submitter
- EHF p.Pro13Ala Uncertain significance Single submitter
- EHF p.Pro21Leu Uncertain significance Single submitter
- EHF p.Ser118Asn Uncertain significance Single submitter
- EHF p.Ser138Pro Uncertain significance Single submitter
- EHF p.Ser233Thr Uncertain significance Single submitter
- EHF p.Ser35Thr Uncertain significance Single submitter
- EHF p.Thr135Ser Uncertain significance Single submitter
- EHF p.Thr199Ser Uncertain significance Single submitter
- EHF p.Thr259Ser Uncertain significance Single submitter
- EHF p.Tyr148Asn Uncertain significance Single submitter
- EHF p.Val181Phe Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- EHF p.Arg232Gln Uncertain significance Single submitter
- EHF p.Arg95Trp Uncertain significance Single submitter
- EHF p.Asn66Ser Uncertain significance Single submitter
- EHF p.Gln48His Uncertain significance Single submitter
- EHF p.Leu85Ile Uncertain significance Single submitter
- EHF p.Lys272Arg Uncertain significance Single submitter
- EHF p.Thr157Ile Uncertain significance Single submitter
- EHF p.Thr99Met Uncertain significance Single submitter
- EHF p.Val236Ile Likely benign Single submitter
All EHF variants
Benign 1
- p.Val128= Multiple submitters
Likely benign 6
- p.Asn71Ser Single submitter
- p.Asp145= Single submitter
- p.Asp145Glu Single submitter
- p.Gly14Ser Single submitter
- p.Pro193His Single submitter
- p.Val236Ile Single submitter ⚠
Uncertain significance 44
- c.-3-10022G>T Single submitter
- c.-3-9995T>C Single submitter
- p.Arg168Gln Single submitter ⚠
- p.Arg168Gly Single submitter ⚠
- p.Arg214His Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Arg293Leu Single submitter ⚠
- p.Arg296Lys Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Arg95Trp Single submitter ⚠
- p.Asn147Ser Single submitter ⚠
- p.Asn32Ser Single submitter ⚠
- p.Asn66Ser Single submitter ⚠
- p.Asp192Val Single submitter ⚠
- p.Gln48His Single submitter ⚠
- p.Glu297Lys Single submitter ⚠
- p.Gly14Asp Single submitter ⚠
- p.His198Asn Single submitter ⚠
- p.His19Gln Single submitter ⚠
- p.His19Tyr Single submitter ⚠
- p.His61Asn Single submitter ⚠
- p.Ile2Val Single submitter ⚠
- p.Leu17Val Single submitter ⚠
- p.Leu18Phe Single submitter ⚠
- p.Leu85Ile Single submitter ⚠
- p.Lys164Glu Single submitter ⚠
- p.Lys196Thr Single submitter ⚠
- p.Lys272Arg Single submitter ⚠
- p.Met187Ile Single submitter ⚠
- p.Phe38Leu Single submitter ⚠
- p.Pro13Ala Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Ser118Asn Single submitter ⚠
- p.Ser138Pro Single submitter ⚠
- p.Ser233Thr Single submitter ⚠
- p.Ser35Thr Single submitter ⚠
- p.Thr135Ser Single submitter ⚠
- p.Thr157Ile Single submitter ⚠
- p.Thr199Ser Single submitter ⚠
- p.Thr259Ser Single submitter ⚠
- p.Thr99Met Single submitter ⚠
- p.Tyr148Asn Single submitter ⚠
- p.Val181Phe Single submitter ⚠