ODF2 — 80 ClinVar variants

All ClinVar germline ODF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →

1 Likely pathogenic · 1 Conflicting · 1 Benign · 4 Likely benign · 73 Uncertain significance

Full ODF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 68

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

ODF2 p.Arg263Lys Likely pathogenic Single submitter
ODF2-related disorder

Predictors agree, ClinVar conflicts 1

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

ODF2 p.Ala888Thr Conflicting Single submitter

Predictors lean, ClinVar uncertain 52

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

Predictors split 14

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

All ODF2 variants

Likely pathogenic 1

p.Arg263Lys Single submitter ODF2-related disorder ⚠

Conflicting classifications of pathogenicity 1

p.Ala888Thr Single submitter ⚠

Benign 1

p.Thr793Ser Multiple submitters

Likely benign 4

c.830+7T>C Single submitter
p.Glu400= Single submitter
p.Glu820= Single submitter
p.Pro683= Single submitter

Uncertain significance 73

p.Ala120Val Single submitter
p.Ala216Val Single submitter ⚠
p.Ala297Val Single submitter ⚠
p.Ala302Val Single submitter ⚠
p.Ala310Thr Single submitter ⚠
p.Ala441Ser Single submitter ⚠
p.Ala518Pro Single submitter ⚠
p.Ala586Thr Single submitter ⚠
p.Ala75Pro Single submitter ⚠
p.Ala79Thr Single submitter ⚠
p.Arg139Gln Single submitter ⚠
p.Arg140Gln Single submitter ⚠
p.Arg143Trp Single submitter ⚠
p.Arg231Cys Single submitter ⚠
p.Arg231Gly Single submitter ⚠
p.Arg241Gln Single submitter ⚠
p.Arg268His Single submitter ⚠
p.Arg268Leu Single submitter ⚠
p.Arg351His Single submitter ⚠
p.Arg354Gln Single submitter ⚠
p.Arg389Cys Single submitter ⚠
p.Arg389His Single submitter ⚠
p.Arg44Lys Single submitter
p.Arg495Gln Single submitter ⚠
p.Arg570Trp Single submitter ⚠
p.Arg720Gly Single submitter ⚠
p.Arg807Gly Single submitter ⚠
p.Asn330His Single submitter ⚠
p.Asp207Tyr Single submitter
p.Asp355Gly Single submitter ⚠
p.Asp550Glu Single submitter ⚠
p.Cys171Ser Single submitter ⚠
p.Cys289Arg Single submitter ⚠
p.Gln232His Single submitter ⚠
p.Gln459Arg Single submitter ⚠
p.Gln560Arg Single submitter ⚠
p.Glu194Ala Single submitter ⚠
p.Glu267Lys Single submitter ⚠
p.Glu442Asp Single submitter ⚠
p.Glu537Gly Single submitter ⚠
p.Glu611Lys Single submitter ⚠
p.Gly316Arg Single submitter ⚠
p.Gly457Arg Single submitter ⚠
p.His170Leu Single submitter ⚠
p.His250Tyr Single submitter ⚠
p.Ile112Leu Single submitter
p.Ile467Met Single submitter ⚠
p.Ile685Phe Single submitter ⚠
p.Ile708Val Single submitter ⚠
p.Leu543Met Single submitter ⚠
p.Leu555Phe Single submitter ⚠
p.Lys209Asn Single submitter ⚠
p.Lys225Asn Single submitter ⚠
p.Lys387Arg Single submitter ⚠
p.Lys513Glu Single submitter ⚠
p.Met226Ile Single submitter ⚠
p.Met269Val Single submitter ⚠
p.Met634Thr Single submitter ⚠
p.Pro116Leu Single submitter
p.Pro177Ser Single submitter ⚠
p.Pro97Arg Single submitter
p.Ser456Arg Single submitter ⚠
p.Ser585Cys Single submitter ⚠
p.Ser66Asn Single submitter ⚠
p.Thr175Met Single submitter ⚠
p.Thr260Met Single submitter ⚠
p.Thr320Ile Single submitter ⚠
p.Thr352Ser Single submitter ⚠
p.Thr553Ala Single submitter ⚠
p.Thr65Met Single submitter ⚠
p.Thr68Met Single submitter ⚠
p.Thr85Met Single submitter ⚠
p.Thr88Ala Single submitter