BCDIN3D — 43 ClinVar variants
All ClinVar germline BCDIN3D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Benign · 3 Likely benign · 39 Uncertain significance
Full BCDIN3D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 31
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BCDIN3D p.Ala205Thr Uncertain significance Single submitter
- BCDIN3D p.Ala225Val Uncertain significance Single submitter
- BCDIN3D p.Ala2Ser Uncertain significance Single submitter
- BCDIN3D p.Asp79Gly Uncertain significance Single submitter
- BCDIN3D p.Cys202Tyr Uncertain significance Single submitter
- BCDIN3D p.Cys248Trp Uncertain significance Single submitter
- BCDIN3D p.Gln266Pro Uncertain significance Single submitter
- BCDIN3D p.Glu61Gly Uncertain significance Single submitter
- BCDIN3D p.His171Tyr Uncertain significance Single submitter
- BCDIN3D p.His185Arg Uncertain significance Single submitter
- BCDIN3D p.Ile278Thr Uncertain significance Single submitter
- BCDIN3D p.Ile68Met Uncertain significance Single submitter
- BCDIN3D p.Leu107Phe Uncertain significance Single submitter
- BCDIN3D p.Leu134Pro Uncertain significance Single submitter
- BCDIN3D p.Leu58Pro Uncertain significance Single submitter
- BCDIN3D p.Leu69Val Uncertain significance Single submitter
- BCDIN3D p.Leu91Pro Uncertain significance Single submitter
- BCDIN3D p.Met168Thr Uncertain significance Single submitter
- BCDIN3D p.Met244Arg Uncertain significance Single submitter
- BCDIN3D p.Pro126Ser Uncertain significance Single submitter
- BCDIN3D p.Pro197Arg Uncertain significance Single submitter
- BCDIN3D p.Pro26Arg Uncertain significance Single submitter
- BCDIN3D p.Pro272Ser Uncertain significance Single submitter
- BCDIN3D p.Pro30Arg Uncertain significance Single submitter
- BCDIN3D p.Ser258Asn Uncertain significance Single submitter
- BCDIN3D p.Ser62Arg Uncertain significance Single submitter
- BCDIN3D p.Ser77Cys Uncertain significance Single submitter
- BCDIN3D p.Ser77Tyr Uncertain significance Single submitter
- BCDIN3D p.Thr5Pro Uncertain significance Single submitter
- BCDIN3D p.Trp200Arg Uncertain significance Single submitter
- BCDIN3D p.Val82Met Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All BCDIN3D variants
Benign 1
- p.Asp8Gly Multiple submitters Moebius syndrome
Likely benign 3
- p.Arg105His Single submitter
- p.Asn232Ser Single submitter
- p.His191Arg Single submitter
Uncertain significance 39
- p.Ala205Thr Single submitter ⚠
- p.Ala206Thr Single submitter
- p.Ala225Val Single submitter ⚠
- p.Ala2Ser Single submitter ⚠
- p.Arg142Trp Single submitter ⚠
- p.Arg209His Single submitter
- p.Asp79Gly Single submitter ⚠
- p.Cys202Tyr Single submitter ⚠
- p.Cys248Trp Single submitter ⚠
- p.Cys75Ser Single submitter ⚠
- p.Gln266Pro Single submitter ⚠
- p.Glu61Gly Single submitter ⚠
- p.His171Tyr Single submitter ⚠
- p.His185Arg Single submitter ⚠
- p.Ile111Thr Single submitter
- p.Ile160Thr Single submitter ⚠
- p.Ile278Thr Single submitter ⚠
- p.Ile68Met Single submitter ⚠
- p.Ile68Ser Single submitter
- p.Leu107Phe Single submitter ⚠
- p.Leu134Pro Single submitter ⚠
- p.Leu58Pro Single submitter ⚠
- p.Leu69Val Single submitter ⚠
- p.Leu91Pro Single submitter ⚠
- p.Met168Thr Single submitter ⚠
- p.Met244Arg Single submitter ⚠
- p.Phe88Leu Single submitter ⚠
- p.Pro126Ser Single submitter ⚠
- p.Pro197Arg Single submitter ⚠
- p.Pro26Arg Single submitter ⚠
- p.Pro272Ser Single submitter ⚠
- p.Pro30Arg Single submitter ⚠
- p.Ser258Asn Single submitter ⚠
- p.Ser62Arg Single submitter ⚠
- p.Ser77Cys Single submitter ⚠
- p.Ser77Tyr Single submitter ⚠
- p.Thr5Pro Single submitter ⚠
- p.Trp200Arg Single submitter ⚠
- p.Val82Met Single submitter ⚠