ERICH4 — 26 ClinVar variants
All ClinVar germline ERICH4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
3 Likely benign · 23 Uncertain significance
Full ERICH4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 14
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERICH4 p.Ala120Val Uncertain significance Single submitter
- ERICH4 p.Arg55Lys Uncertain significance Single submitter
- ERICH4 p.Arg62His Uncertain significance Single submitter
- ERICH4 p.Arg83Gln Uncertain significance Single submitter
- ERICH4 p.Gln107Arg Uncertain significance Single submitter
- ERICH4 p.Gln22His Uncertain significance Single submitter
- ERICH4 p.Gln35Glu Uncertain significance Single submitter
- ERICH4 p.Gly34Asp Uncertain significance Single submitter
- ERICH4 p.Gly41Arg Uncertain significance Single submitter
- ERICH4 p.Gly46Val Uncertain significance Single submitter
- ERICH4 p.Pro21Ser Uncertain significance Single submitter
- ERICH4 p.Ser74Arg Uncertain significance Single submitter
- ERICH4 p.Val64Met Uncertain significance Single submitter
- ERICH4 p.Val87Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- ERICH4 p.Arg62Cys Uncertain significance Single submitter
- ERICH4 p.Glu95Asp Uncertain significance Single submitter
- ERICH4 p.Leu12Arg Uncertain significance Single submitter
- ERICH4 p.Leu3Val Uncertain significance Single submitter
- ERICH4 p.Leu52Pro Uncertain significance Single submitter
- ERICH4 p.Phe126Leu Uncertain significance Single submitter
- ERICH4 p.Pro15Leu Uncertain significance Single submitter
- ERICH4 p.Ser97Asn Uncertain significance Single submitter
- ERICH4 p.Thr88Ile Uncertain significance Single submitter
All ERICH4 variants
Likely benign 3
- p.Arg63Gln Single submitter
- p.Glu26Gly Single submitter
- p.Met79Ile Single submitter
Uncertain significance 23
- p.Ala120Val Single submitter ⚠
- p.Arg55Lys Single submitter ⚠
- p.Arg62Cys Single submitter ⚠
- p.Arg62His Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Gln107Arg Single submitter ⚠
- p.Gln22His Single submitter ⚠
- p.Gln35Glu Single submitter ⚠
- p.Glu95Asp Single submitter ⚠
- p.Gly34Asp Single submitter ⚠
- p.Gly41Arg Single submitter ⚠
- p.Gly46Val Single submitter ⚠
- p.Leu12Arg Single submitter ⚠
- p.Leu3Val Single submitter ⚠
- p.Leu52Pro Single submitter ⚠
- p.Phe126Leu Single submitter ⚠
- p.Pro15Leu Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Ser74Arg Single submitter ⚠
- p.Ser97Asn Single submitter ⚠
- p.Thr88Ile Single submitter ⚠
- p.Val64Met Single submitter ⚠
- p.Val87Ala Single submitter ⚠