BIVM — 14 ClinVar variants
All ClinVar germline BIVM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 9 flagged for review →
2 Benign · 3 Likely benign · 9 Uncertain significance
Full BIVM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 9
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BIVM p.Ala79Val Uncertain significance Single submitter
- BIVM p.Asn11Asp Uncertain significance Single submitter
- BIVM p.Asn234Lys Uncertain significance Single submitter
- BIVM p.Gly14Arg Uncertain significance Single submitter
- BIVM p.Gly492Ala Uncertain significance Single submitter
- BIVM p.Gly495Cys Uncertain significance Single submitter
- BIVM p.His18Gln Uncertain significance Single submitter
- BIVM p.Lys19Glu Uncertain significance Single submitter
- BIVM p.Lys23Arg Uncertain significance Single submitter
All BIVM variants
Benign 2
- p.Gly463= Multiple submitters
- p.Ile82Val Multiple submitters
Likely benign 3
- p.Ser477Leu Multiple submitters
- p.Thr98= Single submitter
- p.Val4Ile Single submitter
Uncertain significance 9
- p.Ala79Val Single submitter ⚠
- p.Asn11Asp Single submitter ⚠
- p.Asn234Lys Single submitter ⚠
- p.Gly14Arg Single submitter ⚠
- p.Gly492Ala Single submitter ⚠
- p.Gly495Cys Single submitter ⚠
- p.His18Gln Single submitter ⚠
- p.Lys19Glu Single submitter ⚠
- p.Lys23Arg Single submitter ⚠