OCIAD1 — 31 ClinVar variants
All ClinVar germline OCIAD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
31 Uncertain significance
Full OCIAD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OCIAD1 p.Ala113Thr Uncertain significance Single submitter
- OCIAD1 p.Ala36Thr Uncertain significance Single submitter
- OCIAD1 p.Arg120Gln Uncertain significance Single submitter
- OCIAD1 p.Arg8Gly Uncertain significance Single submitter
- OCIAD1 p.Asn107Tyr Uncertain significance Single submitter
- OCIAD1 p.Asn169Asp Uncertain significance Single submitter
- OCIAD1 p.Gln118Glu Uncertain significance Single submitter
- OCIAD1 p.Glu211Val Uncertain significance Single submitter
- OCIAD1 p.Gly240Arg Uncertain significance Single submitter
- OCIAD1 p.His127Asp Uncertain significance Single submitter
- OCIAD1 p.His127Gln Uncertain significance Single submitter
- OCIAD1 p.Ile153Thr Uncertain significance Single submitter
- OCIAD1 p.Ile162Val Uncertain significance Single submitter
- OCIAD1 p.Ile21Met Uncertain significance Single submitter
- OCIAD1 p.Lys103Glu Uncertain significance Single submitter
- OCIAD1 p.Lys96Arg Uncertain significance Single submitter
- OCIAD1 p.Met55Val Uncertain significance Single submitter
- OCIAD1 p.Met85Val Uncertain significance Single submitter
- OCIAD1 p.Pro124Ala Uncertain significance Single submitter
- OCIAD1 p.Pro220Leu Uncertain significance Single submitter
- OCIAD1 p.Pro224Ser Uncertain significance Single submitter
- OCIAD1 p.Ser136Leu Uncertain significance Single submitter
- OCIAD1 p.Ser137Gly Uncertain significance Single submitter
- OCIAD1 p.Ser166Tyr Uncertain significance Single submitter
- OCIAD1 p.Thr53Ala Uncertain significance Single submitter
- OCIAD1 p.Tyr199His Uncertain significance Single submitter
- OCIAD1 p.Val14Ile Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All OCIAD1 variants
Uncertain significance 31
- c.-6+279T>C Single submitter
- p.Ala113Thr Single submitter ⚠
- p.Ala36Thr Single submitter ⚠
- p.Arg120Gln Single submitter ⚠
- p.Arg8Gly Single submitter ⚠
- p.Asn107Tyr Single submitter ⚠
- p.Asn169Asp Single submitter ⚠
- p.Gln118Glu Single submitter ⚠
- p.Glu211Val Single submitter ⚠
- p.Gly240Arg Single submitter ⚠
- p.His127Asp Single submitter ⚠
- p.His127Gln Single submitter ⚠
- p.Ile153Thr Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Ile21Met Single submitter ⚠
- p.Lys103Glu Single submitter ⚠
- p.Lys96Arg Single submitter ⚠
- p.Met55Val Single submitter ⚠
- p.Met85Val Single submitter ⚠
- p.Pro124Ala Single submitter ⚠
- p.Pro157Leu Single submitter ⚠
- p.Pro220Leu Single submitter ⚠
- p.Pro224Ser Single submitter ⚠
- p.Ser136Leu Single submitter ⚠
- p.Ser137Gly Single submitter ⚠
- p.Ser143Cys Single submitter ⚠
- p.Ser166Tyr Single submitter ⚠
- p.Thr53Ala Single submitter ⚠
- p.Thr53Pro Single submitter ⚠
- p.Tyr199His Single submitter ⚠
- p.Val14Ile Single submitter ⚠