ERAL1 — 64 ClinVar variants
All ClinVar germline ERAL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Pathogenic · 10 Benign · 8 Likely benign · 45 Uncertain significance
Full ERAL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERAL1 p.Ala3Val Uncertain significance Single submitter
-
ERAL1 p.Ala51Thr
Uncertain significance
Single submitter
Perrault syndrome 6
- ERAL1 p.Ala58Thr Uncertain significance Single submitter
- ERAL1 p.Ala9Val Uncertain significance Single submitter
- ERAL1 p.Asp426Asn Uncertain significance Single submitter
- ERAL1 p.Gln369Lys Uncertain significance Single submitter
- ERAL1 p.Gln413Arg Uncertain significance Single submitter
- ERAL1 p.Glu160Asp Uncertain significance Single submitter
- ERAL1 p.Glu346Asp Uncertain significance Single submitter
- ERAL1 p.Gly261Val Uncertain significance Single submitter
- ERAL1 p.Gly75Val Uncertain significance Single submitter
- ERAL1 p.His335Arg Uncertain significance Single submitter
- ERAL1 p.Ile171Val Uncertain significance Single submitter
- ERAL1 p.Leu119Gln Uncertain significance Single submitter
- ERAL1 p.Leu199Pro Uncertain significance Single submitter
- ERAL1 p.Leu399Phe Uncertain significance Single submitter
- ERAL1 p.Leu424Arg Uncertain significance Single submitter
- ERAL1 p.Pro140Thr Uncertain significance Single submitter
- ERAL1 p.Pro344Arg Uncertain significance Single submitter
- ERAL1 p.Pro365Ser Uncertain significance Single submitter
- ERAL1 p.Pro55Ser Uncertain significance Single submitter
- ERAL1 p.Pro55Thr Uncertain significance Single submitter
- ERAL1 p.Ser82Leu Uncertain significance Single submitter
- ERAL1 p.Thr147Ala Uncertain significance Single submitter
- ERAL1 p.Thr255Pro Uncertain significance Single submitter
- ERAL1 p.Trp6Cys Uncertain significance Single submitter
- ERAL1 p.Val138Met Uncertain significance Single submitter
- ERAL1 p.Val163Leu Uncertain significance Single submitter
- ERAL1 p.Val201Leu Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ERAL1 p.Ala121Val Uncertain significance Single submitter
- ERAL1 p.Arg149His Uncertain significance Single submitter
- ERAL1 p.Gly8Arg Uncertain significance Single submitter
- ERAL1 p.His301Arg Uncertain significance Single submitter
-
ERAL1 p.Ile229Phe
Uncertain significance
Single submitter
hearing loss disorder
- ERAL1 p.Leu182Val Uncertain significance Single submitter
- ERAL1 p.Leu383Val Uncertain significance Single submitter
- ERAL1 p.Leu436Phe Uncertain significance Single submitter
- ERAL1 p.Lys178Gln Uncertain significance Single submitter
-
ERAL1 p.Met307Leu
Uncertain significance
Single submitter
Perrault syndrome 6
- ERAL1 p.Pro331Ser Uncertain significance Single submitter
- ERAL1 p.Ser45Thr Uncertain significance Single submitter
- ERAL1 p.Ser63Ile Uncertain significance Single submitter
- ERAL1 p.Thr251Met Uncertain significance Single submitter
- ERAL1 p.Val163Met Uncertain significance Single submitter
- ERAL1 p.Val25Ile Uncertain significance Single submitter
-
ERAL1 p.Ala152Thr
Likely benign
No assertion criteria
ERAL1-related disorder
All ERAL1 variants
Pathogenic 1
- p.Asn236Ile No assertion criteria Perrault syndrome 6
Benign 10
- c.411+53G>A Multiple submitters
- c.*218C>T Multiple submitters
- c.*65G>T Multiple submitters
- p.Asp315= Multiple submitters Perrault syndrome 6
- c.1191+177T>C Single submitter
- c.284-127C>G Single submitter
- c.284-178G>A Single submitter
- c.489+147del Single submitter
- c.412-8C>T No assertion criteria ERAL1-related disorder
- p.Leu241= No assertion criteria ERAL1-related disorder
Likely benign 8
- p.Ala337= Single submitter
- p.His417Arg Single submitter
- p.Ala152Thr No assertion criteria ERAL1-related disorder ⚠
- p.Arg27= No assertion criteria ERAL1-related disorder
- p.Gln369= No assertion criteria ERAL1-related disorder
- p.His181Arg No assertion criteria ERAL1-related disorder
- p.Ile297Thr No assertion criteria ERAL1-related disorder
- p.Lys317Asn No assertion criteria ERAL1-related disorder
Uncertain significance 45
- p.Ala121Val Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala51Thr Single submitter Perrault syndrome 6 ⚠
- p.Ala58Thr Single submitter ⚠
- p.Ala9Val Single submitter ⚠
- p.Arg149His Single submitter ⚠
- p.Asp426Asn Single submitter ⚠
- p.Gln369Lys Single submitter ⚠
- p.Gln413Arg Single submitter ⚠
- p.Glu160Asp Single submitter ⚠
- p.Glu346Asp Single submitter ⚠
- p.Gly261Val Single submitter ⚠
- p.Gly75Val Single submitter ⚠
- p.Gly8Arg Single submitter ⚠
- p.His301Arg Single submitter ⚠
- p.His335Arg Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile229Phe Single submitter hearing loss disorder ⚠
- p.Leu119Gln Single submitter ⚠
- p.Leu182Val Single submitter ⚠
- p.Leu199Pro Single submitter ⚠
- p.Leu383Val Single submitter ⚠
- p.Leu399Phe Single submitter ⚠
- p.Leu424Arg Single submitter ⚠
- p.Leu436Phe Single submitter ⚠
- p.Lys178Gln Single submitter ⚠
- p.Met307Leu Single submitter Perrault syndrome 6 ⚠
- p.Pro140Thr Single submitter ⚠
- p.Pro331Ser Single submitter ⚠
- p.Pro344Arg Single submitter ⚠
- p.Pro365Ser Single submitter ⚠
- p.Pro55Ser Single submitter ⚠
- p.Pro55Thr Single submitter ⚠
- p.Ser45Thr Single submitter ⚠
- p.Ser63Ile Single submitter ⚠
- p.Ser82Leu Single submitter ⚠
- p.Thr147Ala Single submitter ⚠
- p.Thr251Met Single submitter ⚠
- p.Thr255Pro Single submitter ⚠
- p.Trp6Cys Single submitter ⚠
- p.Val138Met Single submitter ⚠
- p.Val163Leu Single submitter ⚠
- p.Val163Met Single submitter ⚠
- p.Val201Leu Single submitter ⚠
- p.Val25Ile Single submitter ⚠