DOC2A — 71 ClinVar variants
All ClinVar germline DOC2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
4 Benign · 3 Likely benign · 64 Uncertain significance
Full DOC2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DOC2A p.Ala125Thr Uncertain significance Single submitter
- DOC2A p.Ala379Pro Uncertain significance Single submitter
- DOC2A p.Ala54Gly Uncertain significance Single submitter
- DOC2A p.Ala89Thr Uncertain significance Single submitter
- DOC2A p.Arg195Cys Uncertain significance Single submitter
- DOC2A p.Arg252Cys Uncertain significance Single submitter
- DOC2A p.Arg254Cys Uncertain significance Single submitter
- DOC2A p.Arg30His Uncertain significance Single submitter
- DOC2A p.Arg366Trp Uncertain significance Single submitter
- DOC2A p.Arg4His Uncertain significance Single submitter
- DOC2A p.Arg4Pro Uncertain significance Single submitter
- DOC2A p.Arg8Gly Uncertain significance Single submitter
- DOC2A p.Arg8Ser Uncertain significance Single submitter
- DOC2A p.Asp298Asn Uncertain significance Single submitter
- DOC2A p.Glu364Ala Uncertain significance Single submitter
- DOC2A p.Glu51Gln Uncertain significance Single submitter
- DOC2A p.Gly192Glu Uncertain significance Single submitter
- DOC2A p.Gly245Glu Uncertain significance Single submitter
- DOC2A p.Gly247Glu Uncertain significance Single submitter
- DOC2A p.Gly395Arg Uncertain significance Single submitter
- DOC2A p.His368Arg Uncertain significance Single submitter
- DOC2A p.His55Pro Uncertain significance Single submitter
- DOC2A p.Leu239Val Uncertain significance Single submitter
- DOC2A p.Lys306Asn Uncertain significance Single submitter
- DOC2A p.Lys312Thr Uncertain significance Single submitter
- DOC2A p.Met9Leu Uncertain significance Single submitter
- DOC2A p.Met9Thr Uncertain significance Single submitter
- DOC2A p.Met9Val Uncertain significance Single submitter
- DOC2A p.Phe351Leu Uncertain significance Single submitter
- DOC2A p.Pro64Leu Uncertain significance Single submitter
- DOC2A p.Ser260Thr Uncertain significance Single submitter
- DOC2A p.Ser348Phe Uncertain significance Single submitter
- DOC2A p.Thr171Ala Uncertain significance Single submitter
- DOC2A p.Thr72Arg Uncertain significance Single submitter
Predictors split 32
The independent predictors disagree with each other — read with care.
- DOC2A p.Gly48Ser Benign Multiple submitters
- DOC2A p.Pro376Leu Benign Multiple submitters
- DOC2A p.Ala227Val Uncertain significance Single submitter
- DOC2A p.Ala228Val Uncertain significance Single submitter
- DOC2A p.Ala242Val Uncertain significance Single submitter
- DOC2A p.Ala332Thr Uncertain significance Single submitter
- DOC2A p.Ala393Val Uncertain significance Single submitter
- DOC2A p.Arg265Cys Uncertain significance Single submitter
- DOC2A p.Arg265His Uncertain significance Single submitter
- DOC2A p.Arg4Cys Uncertain significance Single submitter
- DOC2A p.Asn141Ser Uncertain significance Single submitter
- DOC2A p.Asn284Ser Uncertain significance Single submitter
- DOC2A p.Asp100His Uncertain significance Single submitter
- DOC2A p.Asp85Glu Uncertain significance Single submitter
- DOC2A p.Glu325Lys Uncertain significance Single submitter
- DOC2A p.Glu364Lys Uncertain significance Single submitter
- DOC2A p.Gly231Asp Uncertain significance Single submitter
- DOC2A p.Gly44Glu Uncertain significance Single submitter
- DOC2A p.Gly46Ser Uncertain significance Single submitter
- DOC2A p.Gly50Arg Uncertain significance Single submitter
- DOC2A p.His55Tyr Uncertain significance Single submitter
- DOC2A p.Ile255Leu Uncertain significance Single submitter
- DOC2A p.Ile326Thr Uncertain significance Single submitter
- DOC2A p.Leu68Phe Uncertain significance Single submitter
- DOC2A p.Pro376Ala Uncertain significance Single submitter
- DOC2A p.Ser163Arg Uncertain significance Single submitter
- DOC2A p.Ser221Phe Uncertain significance Single submitter
- DOC2A p.Thr10Ile Uncertain significance Single submitter
- DOC2A p.Thr171Met Uncertain significance Single submitter
- DOC2A p.Tyr99Phe Uncertain significance Single submitter
- DOC2A p.Val179Ile Uncertain significance Single submitter
- DOC2A p.Val355Met Uncertain significance Single submitter
All DOC2A variants
Benign 4
- c.715-4G>A Multiple submitters
- p.Gly48Ser Multiple submitters ⚠
- p.Pro376Leu Multiple submitters ⚠
- p.Pro392Ala Multiple submitters
Likely benign 3
- c.879-9del Single submitter
- p.Ala378Thr Single submitter
- p.Ser398Pro Single submitter
Uncertain significance 64
- p.Ala125Thr Single submitter ⚠
- p.Ala227Val Single submitter ⚠
- p.Ala228Val Single submitter ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala332Thr Single submitter ⚠
- p.Ala379Pro Single submitter ⚠
- p.Ala393Val Single submitter ⚠
- p.Ala54Gly Single submitter ⚠
- p.Ala89Thr Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg252Cys Single submitter ⚠
- p.Arg254Cys Single submitter ⚠
- p.Arg265Cys Single submitter ⚠
- p.Arg265His Single submitter ⚠
- p.Arg30His Single submitter ⚠
- p.Arg366Trp Single submitter ⚠
- p.Arg4Cys Single submitter ⚠
- p.Arg4His Single submitter ⚠
- p.Arg4Pro Single submitter ⚠
- p.Arg8Gly Single submitter ⚠
- p.Arg8Ser Single submitter ⚠
- p.Asn141Ser Single submitter ⚠
- p.Asn284Ser Single submitter ⚠
- p.Asp100His Single submitter ⚠
- p.Asp298Asn Single submitter ⚠
- p.Asp85Glu Single submitter ⚠
- p.Glu325Lys Single submitter ⚠
- p.Glu364Ala Single submitter ⚠
- p.Glu364Lys Single submitter ⚠
- p.Glu51Gln Single submitter ⚠
- p.Gly192Glu Single submitter ⚠
- p.Gly231Asp Single submitter ⚠
- p.Gly245Glu Single submitter ⚠
- p.Gly247Glu Single submitter ⚠
- p.Gly395Arg Single submitter ⚠
- p.Gly44Glu Single submitter ⚠
- p.Gly46Ser Single submitter ⚠
- p.Gly50Arg Single submitter ⚠
- p.His368Arg Single submitter ⚠
- p.His55Pro Single submitter ⚠
- p.His55Tyr Single submitter ⚠
- p.Ile255Leu Single submitter ⚠
- p.Ile326Thr Single submitter ⚠
- p.Leu239Val Single submitter ⚠
- p.Leu68Phe Single submitter ⚠
- p.Lys306Asn Single submitter ⚠
- p.Lys312Thr Single submitter ⚠
- p.Met9Leu Single submitter ⚠
- p.Met9Thr Single submitter ⚠
- p.Met9Val Single submitter ⚠
- p.Phe351Leu Single submitter ⚠
- p.Pro376Ala Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Ser163Arg Single submitter ⚠
- p.Ser221Phe Single submitter ⚠
- p.Ser260Thr Single submitter ⚠
- p.Ser348Phe Single submitter ⚠
- p.Thr10Ile Single submitter ⚠
- p.Thr171Ala Single submitter ⚠
- p.Thr171Met Single submitter ⚠
- p.Thr72Arg Single submitter ⚠
- p.Tyr99Phe Single submitter ⚠
- p.Val179Ile Single submitter ⚠
- p.Val355Met Single submitter ⚠