DOC2B — 50 ClinVar variants
All ClinVar germline DOC2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
3 Likely benign · 47 Uncertain significance
Full DOC2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DOC2B p.Ala295Thr Uncertain significance Single submitter
- DOC2B p.Ala58Ser Uncertain significance Single submitter
- DOC2B p.Asp57His Uncertain significance Single submitter
- DOC2B p.Glu113Asp Uncertain significance Single submitter
- DOC2B p.Glu219Lys Uncertain significance Single submitter
- DOC2B p.Gly201Arg Uncertain significance Single submitter
- DOC2B p.Gly43Ser Uncertain significance Single submitter
- DOC2B p.Gly75Asp Uncertain significance Single submitter
- DOC2B p.Ile12Leu Uncertain significance Single submitter
- DOC2B p.Met156Val Uncertain significance Single submitter
- DOC2B p.Pro110Arg Uncertain significance Single submitter
- DOC2B p.Pro155Leu Uncertain significance Single submitter
- DOC2B p.Pro234Ser Uncertain significance Single submitter
- DOC2B p.Pro45Ser Uncertain significance Single submitter
- DOC2B p.Thr146Ala Uncertain significance Single submitter
- DOC2B p.Thr148Ile Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- DOC2B p.Ala103Thr Uncertain significance Single submitter
- DOC2B p.Ala54Glu Uncertain significance Single submitter
- DOC2B p.Ala63Thr Uncertain significance Single submitter
- DOC2B p.Arg186Cys Uncertain significance Single submitter
- DOC2B p.Arg186His Uncertain significance Single submitter
- DOC2B p.Arg209His Uncertain significance Single submitter
- DOC2B p.Arg223Gln Uncertain significance Single submitter
- DOC2B p.Arg232Cys Uncertain significance Single submitter
- DOC2B p.Arg39Ser Uncertain significance Single submitter
- DOC2B p.Arg42Gln Uncertain significance Single submitter
- DOC2B p.Arg69His Uncertain significance Single submitter
- DOC2B p.Asn159Ser Uncertain significance Single submitter
- DOC2B p.Asp122Glu Uncertain significance Single submitter
- DOC2B p.Asp122Tyr Uncertain significance Single submitter
- DOC2B p.Asp123His Uncertain significance Single submitter
- DOC2B p.Asp80His Uncertain significance Single submitter
- DOC2B p.Asp84Asn Uncertain significance Single submitter
- DOC2B p.Glu113Lys Uncertain significance Single submitter
- DOC2B p.Glu78Lys Uncertain significance Single submitter
- DOC2B p.Glu81Gln Uncertain significance Single submitter
- DOC2B p.Gly68Cys Uncertain significance Single submitter
- DOC2B p.His158Asn Uncertain significance Single submitter
- DOC2B p.His242Tyr Uncertain significance Single submitter
- DOC2B p.Ile12Asn Uncertain significance Single submitter
- DOC2B p.Leu185Val Uncertain significance Single submitter
- DOC2B p.Phe37Leu Uncertain significance Single submitter
- DOC2B p.Phe40Leu Uncertain significance Single submitter
- DOC2B p.Pro55Thr Uncertain significance Single submitter
- DOC2B p.Ser133Gly Uncertain significance Single submitter
- DOC2B p.Thr129Met Uncertain significance Single submitter
- DOC2B p.Thr211Ala Uncertain significance Single submitter
All DOC2B variants
Likely benign 3
- c.765+725G>C Single submitter
- p.Leu171= Single submitter
- p.Thr192= Single submitter
Uncertain significance 47
- p.Ala103Thr Single submitter ⚠
- p.Ala295Thr Single submitter ⚠
- p.Ala54Glu Single submitter ⚠
- p.Ala58Ser Single submitter ⚠
- p.Ala63Thr Single submitter ⚠
- p.Arg186Cys Single submitter ⚠
- p.Arg186His Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg223Gln Single submitter ⚠
- p.Arg232Cys Single submitter ⚠
- p.Arg39Ser Single submitter ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg69His Single submitter ⚠
- p.Asn159Ser Single submitter ⚠
- p.Asp122Glu Single submitter ⚠
- p.Asp122Tyr Single submitter ⚠
- p.Asp123His Single submitter ⚠
- p.Asp57His Single submitter ⚠
- p.Asp80His Single submitter ⚠
- p.Asp84Asn Single submitter ⚠
- p.Glu113Asp Single submitter ⚠
- p.Glu113Lys Single submitter ⚠
- p.Glu219Lys Single submitter ⚠
- p.Glu78Lys Single submitter ⚠
- p.Glu81Gln Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly43Ser Single submitter ⚠
- p.Gly68Cys Single submitter ⚠
- p.Gly75Asp Single submitter ⚠
- p.His158Asn Single submitter ⚠
- p.His242Tyr Single submitter ⚠
- p.Ile12Asn Single submitter ⚠
- p.Ile12Leu Single submitter ⚠
- p.Leu185Val Single submitter ⚠
- p.Met156Val Single submitter ⚠
- p.Phe37Leu Single submitter ⚠
- p.Phe40Leu Single submitter ⚠
- p.Pro110Arg Single submitter ⚠
- p.Pro155Leu Single submitter ⚠
- p.Pro234Ser Single submitter ⚠
- p.Pro45Ser Single submitter ⚠
- p.Pro55Thr Single submitter ⚠
- p.Ser133Gly Single submitter ⚠
- p.Thr129Met Single submitter ⚠
- p.Thr146Ala Single submitter ⚠
- p.Thr148Ile Single submitter ⚠
- p.Thr211Ala Single submitter ⚠