ENOPH1 — 12 ClinVar variants
All ClinVar germline ENOPH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 10 flagged for review →
2 Likely benign · 10 Uncertain significance
Full ENOPH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 10
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ENOPH1 p.Ala120Val Uncertain significance Single submitter
- ENOPH1 p.Ala159Val Uncertain significance Single submitter
- ENOPH1 p.Arg126Cys Uncertain significance Single submitter
- ENOPH1 p.Asp241Gly Uncertain significance Single submitter
- ENOPH1 p.Gln114Arg Uncertain significance Single submitter
- ENOPH1 p.Gln88His Uncertain significance Single submitter
- ENOPH1 p.His68Asn Uncertain significance Single submitter
- ENOPH1 p.Leu69Arg Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
All ENOPH1 variants
Likely benign 2
- p.Leu110= Single submitter
- p.Thr261Ala Single submitter
Uncertain significance 10
- p.Ala120Val Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Arg126Cys Single submitter ⚠
- p.Asp241Gly Single submitter ⚠
- p.Gln114Arg Single submitter ⚠
- p.Gln88His Single submitter ⚠
- p.His68Asn Single submitter ⚠
- p.Leu69Arg Single submitter ⚠
- p.Pro76Ser Single submitter ⚠
- p.Val93Met Single submitter ⚠