BSDC1 — 62 ClinVar variants
All ClinVar germline BSDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
2 Likely benign · 60 Uncertain significance
Full BSDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BSDC1 p.Ala145Thr Uncertain significance Single submitter
- BSDC1 p.Ala145Val Uncertain significance Single submitter
- BSDC1 p.Ala20Thr Uncertain significance Single submitter
- BSDC1 p.Ala28Thr Uncertain significance Single submitter
- BSDC1 p.Ala295Val Uncertain significance Single submitter
- BSDC1 p.Ala411Val Uncertain significance Single submitter
- BSDC1 p.Ala70Thr Uncertain significance Single submitter
- BSDC1 p.Asn382Asp Uncertain significance Single submitter
- BSDC1 p.Cys133Tyr Uncertain significance Single submitter
- BSDC1 p.Cys151Phe Uncertain significance Single submitter
- BSDC1 p.Cys260Tyr Uncertain significance Single submitter
- BSDC1 p.Gln201Glu Uncertain significance Single submitter
- BSDC1 p.Gln257Arg Uncertain significance Single submitter
- BSDC1 p.Gln44Arg Uncertain significance Single submitter
- BSDC1 p.Glu153Asp Uncertain significance Single submitter
- BSDC1 p.Glu269Asp Uncertain significance Single submitter
- BSDC1 p.Glu273Asp Uncertain significance Single submitter
- BSDC1 p.Glu27Ala Uncertain significance Single submitter
- BSDC1 p.Glu30Lys Uncertain significance Single submitter
- BSDC1 p.Gly230Val Uncertain significance Single submitter
- BSDC1 p.Gly324Asp Uncertain significance Single submitter
- BSDC1 p.Gly345Ser Uncertain significance Single submitter
- BSDC1 p.Gly419Arg Uncertain significance Single submitter
- BSDC1 p.Gly66Asp Uncertain significance Single submitter
- BSDC1 p.Ile169Leu Uncertain significance Single submitter
- BSDC1 p.Ile391Val Uncertain significance Single submitter
- BSDC1 p.Lys303Glu Uncertain significance Single submitter
- BSDC1 p.Met410Thr Uncertain significance Single submitter
- BSDC1 p.Pro140Leu Uncertain significance Single submitter
- BSDC1 p.Pro167Ser Uncertain significance Single submitter
- BSDC1 p.Pro350Ser Uncertain significance Single submitter
- BSDC1 p.Ser12Arg Uncertain significance Single submitter
- BSDC1 p.Ser214Asn Uncertain significance Single submitter
- BSDC1 p.Ser216Pro Uncertain significance Single submitter
- BSDC1 p.Ser267Thr Uncertain significance Single submitter
- BSDC1 p.Ser280Asn Uncertain significance Single submitter
- BSDC1 p.Thr47Met Uncertain significance Single submitter
- BSDC1 p.Trp395Arg Uncertain significance Single submitter
- BSDC1 p.Val21Ile Uncertain significance Single submitter
- BSDC1 p.Val241Ile Uncertain significance Single submitter
- BSDC1 p.Val274Leu Uncertain significance Single submitter
- BSDC1 p.Val286Met Uncertain significance Single submitter
- BSDC1 p.Val424Ile Uncertain significance Single submitter
- BSDC1 p.Val57Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- BSDC1 p.Ala2Val Uncertain significance Single submitter
- BSDC1 p.Arg121His Uncertain significance Single submitter
- BSDC1 p.Arg34Gln Uncertain significance Single submitter
- BSDC1 p.Asp402Gly Uncertain significance Single submitter
- BSDC1 p.Gly83Glu Uncertain significance Single submitter
- BSDC1 p.His195Arg Uncertain significance Single submitter
- BSDC1 p.His195Gln Uncertain significance Single submitter
- BSDC1 p.Ile97Phe Uncertain significance Single submitter
- BSDC1 p.Pro136Ser Uncertain significance Single submitter
- BSDC1 p.Ser392Asn Uncertain significance Single submitter
- BSDC1 p.Ser418Phe Uncertain significance Single submitter
- BSDC1 p.Thr404Ala Uncertain significance Single submitter
All BSDC1 variants
Likely benign 2
- c.190-30G>A Single submitter
- c.190-36C>T Single submitter
Uncertain significance 60
- c.190-36C>G Single submitter
- p.Ala145Thr Single submitter ⚠
- p.Ala145Val Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala28Thr Single submitter ⚠
- p.Ala295Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala411Val Single submitter ⚠
- p.Ala70Thr Single submitter ⚠
- p.Arg121His Single submitter ⚠
- p.Arg34Gln Single submitter ⚠
- p.Asn382Asp Single submitter ⚠
- p.Asp402Gly Single submitter ⚠
- p.Cys133Tyr Single submitter ⚠
- p.Cys151Phe Single submitter ⚠
- p.Cys260Tyr Single submitter ⚠
- p.Gln201Glu Single submitter ⚠
- p.Gln257Arg Single submitter ⚠
- p.Gln44Arg Single submitter ⚠
- p.Glu153Asp Single submitter ⚠
- p.Glu269Asp Single submitter ⚠
- p.Glu273Asp Single submitter ⚠
- p.Glu27Ala Single submitter ⚠
- p.Glu30Lys Single submitter ⚠
- p.Gly230Val Single submitter ⚠
- p.Gly324Asp Single submitter ⚠
- p.Gly345Ser Single submitter ⚠
- p.Gly419Arg Single submitter ⚠
- p.Gly66Asp Single submitter ⚠
- p.Gly83Glu Single submitter ⚠
- p.His195Arg Single submitter ⚠
- p.His195Gln Single submitter ⚠
- p.Ile169Leu Single submitter ⚠
- p.Ile391Val Single submitter ⚠
- p.Ile97Phe Single submitter ⚠
- p.Lys303Glu Single submitter ⚠
- p.Met410Thr Single submitter ⚠
- p.Pro136Ser Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro167Ser Single submitter ⚠
- p.Pro350Ser Single submitter ⚠
- p.Ser12Arg Single submitter ⚠
- p.Ser214Asn Single submitter ⚠
- p.Ser216Pro Single submitter ⚠
- p.Ser267Thr Single submitter ⚠
- p.Ser280Asn Single submitter ⚠
- p.Ser377Thr Single submitter
- p.Ser392Asn Single submitter ⚠
- p.Ser418Phe Single submitter ⚠
- p.Thr389Met Single submitter
- p.Thr404Ala Single submitter ⚠
- p.Thr47Met Single submitter ⚠
- p.Trp395Arg Single submitter ⚠
- p.Tyr123Cys Single submitter
- p.Val21Ile Single submitter ⚠
- p.Val241Ile Single submitter ⚠
- p.Val274Leu Single submitter ⚠
- p.Val286Met Single submitter ⚠
- p.Val424Ile Single submitter ⚠
- p.Val57Met Single submitter ⚠