OCIAD2 — 30 ClinVar variants
All ClinVar germline OCIAD2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
2 Likely benign · 28 Uncertain significance
Full OCIAD2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OCIAD2 p.Ala2Thr Uncertain significance Single submitter
- OCIAD2 p.Ala6Val Uncertain significance Single submitter
- OCIAD2 p.Ala77Pro Uncertain significance Single submitter
- OCIAD2 p.Ala88Ser Uncertain significance Single submitter
- OCIAD2 p.Arg118Cys Uncertain significance Single submitter
- OCIAD2 p.Arg118His Uncertain significance Single submitter
- OCIAD2 p.Arg44Gln Uncertain significance Single submitter
- OCIAD2 p.Arg7Cys Uncertain significance Single submitter
- OCIAD2 p.Arg7Leu Uncertain significance Single submitter
- OCIAD2 p.Cys106Arg Uncertain significance Single submitter
- OCIAD2 p.Gln107His Uncertain significance Single submitter
- OCIAD2 p.Gln116Arg Uncertain significance Single submitter
- OCIAD2 p.Gly142Arg Uncertain significance Single submitter
- OCIAD2 p.Gly147Ala Uncertain significance Single submitter
- OCIAD2 p.Gly147Arg Uncertain significance Single submitter
- OCIAD2 p.Leu131Pro Uncertain significance Single submitter
- OCIAD2 p.Pro19Ser Uncertain significance Single submitter
- OCIAD2 p.Ser108Asn Uncertain significance Single submitter
- OCIAD2 p.Ser144Arg Uncertain significance Single submitter
- OCIAD2 p.Ser144Ile Uncertain significance Single submitter
- OCIAD2 p.Ser149Pro Uncertain significance Single submitter
- OCIAD2 p.Tyr102His Uncertain significance Single submitter
- OCIAD2 p.Val105Ala Uncertain significance Single submitter
- OCIAD2 p.Val61Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All OCIAD2 variants
Uncertain significance 28
- p.Ala2Thr Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Ala77Pro Single submitter ⚠
- p.Ala88Ser Single submitter ⚠
- p.Arg118Cys Single submitter ⚠
- p.Arg118His Single submitter ⚠
- p.Arg44Gln Single submitter ⚠
- p.Arg7Cys Single submitter ⚠
- p.Arg7Leu Single submitter ⚠
- p.Cys106Arg Single submitter ⚠
- p.Cys134Arg Single submitter ⚠
- p.Gln107His Single submitter ⚠
- p.Gln116Arg Single submitter ⚠
- p.Gly123Asp Single submitter ⚠
- p.Gly142Arg Single submitter ⚠
- p.Gly147Ala Single submitter ⚠
- p.Gly147Arg Single submitter ⚠
- p.Gly68Glu Single submitter ⚠
- p.Leu131Pro Single submitter ⚠
- p.Phe81Val Single submitter
- p.Pro19Ser Single submitter ⚠
- p.Ser108Asn Single submitter ⚠
- p.Ser144Arg Single submitter ⚠
- p.Ser144Ile Single submitter ⚠
- p.Ser149Pro Single submitter ⚠
- p.Tyr102His Single submitter ⚠
- p.Val105Ala Single submitter ⚠
- p.Val61Ile Single submitter ⚠