ATOH7 — 135 ClinVar variants

All ClinVar germline ATOH7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 7 Benign · 19 Likely benign · 104 Uncertain significance

Full ATOH7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 89

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

ATOH7 p.Leu135Pro Conflicting Single submitter

Predictors lean, ClinVar uncertain 65

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 23

The independent predictors disagree with each other — read with care.

All ATOH7 variants

Pathogenic 3

p.Ala59Thr No assertion criteria Optic nerve hypoplasia
p.Asn46His No assertion criteria persistent hyperplastic primary vitreous, autosomal recessive
p.Glu49Val No assertion criteria persistent hyperplastic primary vitreous, autosomal recessive

Likely pathogenic 1

p.Arg52Gly Single submitter persistent hyperplastic primary vitreous, autosomal recessive

Conflicting classifications of pathogenicity 1

p.Leu135Pro Single submitter ⚠

Benign 7

c.-185A>G Multiple submitters
c.-234C>T Multiple submitters
c.-315A>C Multiple submitters
c.-419T>C Multiple submitters
p.Arg65Gly Multiple submitters
p.His112= Single submitter
p.Pro68= Single submitter

Likely benign 19

p.Arg48= Multiple submitters
p.Ala151= Single submitter
p.Ala16= Single submitter
p.Ala26= Single submitter
p.Ala99= Single submitter
p.Arg34= Single submitter
p.Asn57= Single submitter
p.Glu132= Single submitter
p.Gly142= Single submitter
p.Gly33= Single submitter
p.Gly8= Single submitter
p.His120= Single submitter
p.Leu63= Single submitter
p.Lys78= Single submitter
p.Phe102= Single submitter
p.Pro125= Single submitter
p.Pro145= Single submitter
p.Pro9= Single submitter
p.Tyr136= Single submitter

Uncertain significance 104

p.Ala20Gly Multiple submitters ⚠
p.Ala20Thr Multiple submitters ⚠
p.Ala44Glu Multiple submitters ⚠
p.Arg62Ser Multiple submitters ⚠
p.Asn46Ser Multiple submitters ⚠
p.Asn57Ser Multiple submitters ⚠
p.Asp119Gly Multiple submitters ⚠
p.Gln54Pro Multiple submitters ⚠
p.Glu134Asp Multiple submitters ⚠
p.Leu56Phe Multiple submitters ⚠
p.Leu63Ile Multiple submitters ⚠
p.Lys2Glu Multiple submitters ⚠
p.Pro130Gln Multiple submitters ⚠
p.Pro145Ala Multiple submitters ⚠
p.Ser3Phe Multiple submitters ⚠
p.Thr152Ile Multiple submitters ⚠
p.Thr58Ala Multiple submitters ⚠
p.Ala30Thr Single submitter ⚠
p.Ala44Pro Single submitter ⚠
p.Ala45Thr Single submitter ⚠
p.Ala47Thr Single submitter ⚠
p.Ala47Val Single submitter ⚠
p.Ala59Val Single submitter foveal hypoplasia ⚠
p.Ala91Gly Single submitter ⚠
p.Ala97= Single submitter
p.Ala97Pro Single submitter ⚠
p.Arg14His Single submitter ⚠
p.Arg34Leu Single submitter ⚠
p.Arg34Trp Single submitter ⚠
p.Arg40His Single submitter ⚠
p.Arg41_Arg48del Single submitter
p.Arg42Gly Single submitter ⚠
p.Arg42His Single submitter ⚠
p.Arg42Ser Single submitter ⚠
p.Arg50Gly Single submitter ⚠
p.Arg65= Single submitter
p.Arg94Trp Single submitter ⚠
p.Asp119Asn Single submitter ⚠
p.Asp73Gly Single submitter ⚠
p.Cys25Tyr Single submitter ⚠
p.Gln149Arg Single submitter ⚠
p.Gln54His Single submitter ⚠
p.Gln54Leu Single submitter ⚠
p.Gln69Arg Single submitter ⚠
p.Gln72His Single submitter ⚠
p.Glu146Lys Single submitter ⚠
p.Glu24Ter Single submitter
p.Glu36Gly Single submitter ⚠
p.Glu49fs Single submitter
p.Glu80Asp Single submitter ⚠
p.Gly103Ala Single submitter ⚠
p.Gly110Asp Single submitter ⚠
p.Gly126Arg Single submitter ⚠
p.Gly12Glu Single submitter ⚠
p.Gly21Val Single submitter
p.Gly22_Gly27del Single submitter
p.Gly22_Gly27dup Single submitter
p.Gly27Ser Single submitter ⚠
p.Gly71Arg Single submitter ⚠
p.Gly8Cys Single submitter ⚠
p.His112Gln Single submitter ⚠
p.Leu122Arg Single submitter ⚠
p.Leu82Gln Single submitter ⚠
p.Leu92Pro Single submitter ⚠
p.Lys128Thr Single submitter ⚠
p.Lys2Asn Single submitter ⚠
p.Lys2Met Single submitter ⚠
p.Lys78_Tyr79del Single submitter
p.Met150Thr Single submitter ⚠
p.Met84Lys Single submitter ⚠
p.Met84Val Single submitter ⚠
p.Met90Ile Single submitter ⚠
p.Met90Leu Single submitter ⚠
p.Met90Thr Single submitter ⚠
p.Phe116Cys Single submitter ⚠
p.Phe116Leu Single submitter ⚠
p.Phe60Leu Single submitter ⚠
p.Pro10Ala Single submitter ⚠
p.Pro10Arg Single submitter ⚠
p.Pro10Ser Single submitter ⚠
p.Pro145Arg Single submitter ⚠
p.Pro145Ser Single submitter ⚠
p.Pro18Arg Single submitter ⚠
p.Pro18fs Single submitter persistent hyperplastic primary vitreous, autosomal recessive
p.Pro18Gln Single submitter ⚠
p.Pro18Thr Single submitter ⚠
p.Pro68Ala Single submitter ⚠
p.Pro68Arg Single submitter ⚠
p.Pro68Ser Single submitter ⚠
p.Pro9fs Single submitter
p.Pro9Leu Single submitter ⚠
p.Ser137Asn Single submitter ⚠
p.Ser37Gly Single submitter ⚠
p.Ser3Pro Single submitter ⚠
p.Ser77= Single submitter
p.Thr23_Ala30dup Single submitter
p.Thr23Asn Single submitter ⚠
p.Thr28Arg Single submitter ⚠
p.Thr58Ile Single submitter ⚠
p.Trp108Ter Single submitter
p.Trp70Ter Single submitter
p.Tyr121fs Single submitter
p.Val15Phe Single submitter ⚠
p.Val67Leu Single submitter ⚠