ATOH1 — 74 ClinVar variants
All ClinVar germline ATOH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
1 Pathogenic · 2 Likely pathogenic · 5 Benign · 3 Likely benign · 63 Uncertain significance
Full ATOH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ATOH1 p.Ala204Asp Uncertain significance Single submitter
- ATOH1 p.Ala248Thr Uncertain significance Single submitter
- ATOH1 p.Ala63Thr Uncertain significance Single submitter
- ATOH1 p.Ala78Pro Uncertain significance Single submitter
- ATOH1 p.Arg125Trp Uncertain significance Single submitter
-
ATOH1 p.Arg161Gly
Uncertain significance
Single submitter
Global developmental delay
- ATOH1 p.Arg275Cys Uncertain significance Single submitter
- ATOH1 p.Arg96Leu Uncertain significance Single submitter
- ATOH1 p.Asn250Tyr Uncertain significance Single submitter
- ATOH1 p.Asp290Asn Uncertain significance Single submitter
- ATOH1 p.Asp60Val Uncertain significance Single submitter
- ATOH1 p.Gln223Glu Uncertain significance Single submitter
- ATOH1 p.Gln324Arg Uncertain significance Single submitter
- ATOH1 p.Glu45Gln Uncertain significance Single submitter
- ATOH1 p.Glu8Gln Uncertain significance Single submitter
- ATOH1 p.Glu98Lys Uncertain significance Single submitter
- ATOH1 p.Gly101Ala Uncertain significance Single submitter
- ATOH1 p.Gly101Ser Uncertain significance Single submitter
- ATOH1 p.Gly120Arg Uncertain significance Single submitter
- ATOH1 p.Gly174Ala Uncertain significance Single submitter
- ATOH1 p.Gly17Arg Uncertain significance Single submitter
- ATOH1 p.Gly220Glu Uncertain significance Single submitter
- ATOH1 p.Gly270Glu Uncertain significance Single submitter
- ATOH1 p.His173Arg Uncertain significance Single submitter
- ATOH1 p.His19Gln Uncertain significance Single submitter
- ATOH1 p.His335Tyr Uncertain significance Single submitter
- ATOH1 p.Leu162Gln Uncertain significance Single submitter
- ATOH1 p.Leu4Met Uncertain significance Single submitter
- ATOH1 p.Met305Arg Uncertain significance Single submitter
- ATOH1 p.Pro268Ser Uncertain significance Single submitter
- ATOH1 p.Pro50Leu Uncertain significance Single submitter
- ATOH1 p.Pro95Leu Uncertain significance Single submitter
- ATOH1 p.Pro95Ser Uncertain significance Single submitter
- ATOH1 p.Ser110Arg Uncertain significance Single submitter
- ATOH1 p.Ser188Leu Uncertain significance Single submitter
- ATOH1 p.Ser350Leu Uncertain significance Single submitter
- ATOH1 p.Tyr244Cys Uncertain significance Single submitter
- ATOH1 p.Val156Leu Uncertain significance Single submitter
- ATOH1 p.Val185Gly Uncertain significance Single submitter
-
ATOH1 p.Pro148Ser
Uncertain significance
No assertion criteria
ATOH1-related disorder
Predictors split 23
The independent predictors disagree with each other — read with care.
- ATOH1 p.Ala113Val Uncertain significance Single submitter
- ATOH1 p.Arg144His Uncertain significance Single submitter
- ATOH1 p.Arg273Gly Uncertain significance Single submitter
-
ATOH1 p.Cys73Tyr
Uncertain significance
Single submitter
hearing loss, autosomal dominant 89
- ATOH1 p.Gln181Lys Uncertain significance Single submitter
- ATOH1 p.His236Asn Uncertain significance Single submitter
- ATOH1 p.His237Tyr Uncertain significance Single submitter
- ATOH1 p.Leu131Met Uncertain significance Single submitter
- ATOH1 p.Leu140Met Uncertain significance Single submitter
- ATOH1 p.Pro225Gln Uncertain significance Single submitter
- ATOH1 p.Pro227His Uncertain significance Single submitter
- ATOH1 p.Pro228Leu Uncertain significance Single submitter
- ATOH1 p.Pro25Ser Uncertain significance Single submitter
- ATOH1 p.Pro33Thr Uncertain significance Single submitter
- ATOH1 p.Pro85Leu Uncertain significance Single submitter
- ATOH1 p.Ser109Asn Uncertain significance Single submitter
- ATOH1 p.Ser115Asn Uncertain significance Single submitter
- ATOH1 p.Ser149Thr Uncertain significance Single submitter
- ATOH1 p.Ser230Phe Uncertain significance Single submitter
- ATOH1 p.Ser233Ile Uncertain significance Single submitter
- ATOH1 p.Ser277Leu Uncertain significance Single submitter
-
ATOH1 p.Pro225Arg
Likely benign
No assertion criteria
ATOH1-related disorder
-
ATOH1 p.Pro25Ala
Uncertain significance
No assertion criteria
ATOH1-related disorder
All ATOH1 variants
Pathogenic 1
- p.His344fs Single submitter Dominant progressive sensorineural hearing loss
Likely pathogenic 2
- p.Leu302fs Single submitter
- p.Ser342fs Single submitter
Benign 5
- p.Asp138Glu Multiple submitters
- p.Gly270Arg Multiple submitters
- p.His237Gln Multiple submitters
- p.Asn191= Single submitter
- p.Pro50= No assertion criteria ATOH1-related disorder
Likely benign 3
- p.Ala282= No assertion criteria ATOH1-related disorder
- p.Glu45= No assertion criteria ATOH1-related disorder
- p.Pro225Arg No assertion criteria ATOH1-related disorder ⚠
Uncertain significance 63
- p.Ala113Val Single submitter ⚠
- p.Ala204Asp Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala253fs Single submitter ATOH1-related disorder
- p.Ala63Thr Single submitter ⚠
- p.Ala78Pro Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg144His Single submitter ⚠
- p.Arg161Gly Single submitter Global developmental delay ⚠
- p.Arg273Gly Single submitter ⚠
- p.Arg275Cys Single submitter ⚠
- p.Arg96Leu Single submitter ⚠
- p.Asn250Tyr Single submitter ⚠
- p.Asp290Asn Single submitter ⚠
- p.Asp60Val Single submitter ⚠
- p.Cys73Tyr Single submitter hearing loss, autosomal dominant 89 ⚠
- p.Gln181Lys Single submitter ⚠
- p.Gln223Glu Single submitter ⚠
- p.Gln324Arg Single submitter ⚠
- p.Glu45Gln Single submitter ⚠
- p.Glu8Gln Single submitter ⚠
- p.Glu98Lys Single submitter ⚠
- p.Gly101Ala Single submitter ⚠
- p.Gly101Ser Single submitter ⚠
- p.Gly120Arg Single submitter ⚠
- p.Gly174Ala Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly220Glu Single submitter ⚠
- p.Gly270Glu Single submitter ⚠
- p.His173Arg Single submitter ⚠
- p.His19Gln Single submitter ⚠
- p.His236Asn Single submitter ⚠
- p.His237Tyr Single submitter ⚠
- p.His335Tyr Single submitter ⚠
- p.Leu131Met Single submitter ⚠
- p.Leu140Met Single submitter ⚠
- p.Leu162Gln Single submitter ⚠
- p.Leu4Met Single submitter ⚠
- p.Met305Arg Single submitter ⚠
- p.Pro225Gln Single submitter ⚠
- p.Pro227His Single submitter ⚠
- p.Pro228Leu Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro268Ser Single submitter ⚠
- p.Pro33Thr Single submitter ⚠
- p.Pro50Leu Single submitter ⚠
- p.Pro85Leu Single submitter ⚠
- p.Pro95Leu Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser109Asn Single submitter ⚠
- p.Ser110Arg Single submitter ⚠
- p.Ser115Asn Single submitter ⚠
- p.Ser149Thr Single submitter ⚠
- p.Ser188Leu Single submitter ⚠
- p.Ser230Phe Single submitter ⚠
- p.Ser233Ile Single submitter ⚠
- p.Ser277Leu Single submitter ⚠
- p.Ser350Leu Single submitter ⚠
- p.Tyr244Cys Single submitter ⚠
- p.Val156Leu Single submitter ⚠
- p.Val185Gly Single submitter ⚠
- p.Pro148Ser No assertion criteria ATOH1-related disorder ⚠
- p.Pro25Ala No assertion criteria ATOH1-related disorder ⚠