BMF — 30 ClinVar variants
All ClinVar germline BMF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
2 Likely benign · 28 Uncertain significance
Full BMF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BMF p.Ala100Thr Uncertain significance Single submitter
- BMF p.Ala171Thr Uncertain significance Single submitter
- BMF p.Arg103Leu Uncertain significance Single submitter
- BMF p.Arg135Gln Uncertain significance Single submitter
- BMF p.Arg94Gln Uncertain significance Single submitter
- BMF p.Gln16His Uncertain significance Single submitter
- BMF p.Glu118Val Uncertain significance Single submitter
- BMF p.Glu176Gln Uncertain significance Single submitter
- BMF p.Glu2Gln Uncertain significance Single submitter
- BMF p.Glu90Gly Uncertain significance Single submitter
- BMF p.Glu91Gly Uncertain significance Single submitter
- BMF p.Gly180Arg Uncertain significance Single submitter
- BMF p.His168Tyr Uncertain significance Single submitter
- BMF p.Ile116Thr Uncertain significance Single submitter
- BMF p.Pro121Leu Uncertain significance Single submitter
- BMF p.Pro17Leu Uncertain significance Single submitter
- BMF p.Pro43Ser Uncertain significance Single submitter
- BMF p.Pro51Leu Uncertain significance Single submitter
- BMF p.Pro62Ser Uncertain significance Single submitter
- BMF p.Pro75Leu Uncertain significance Single submitter
- BMF p.Ser28Gly Uncertain significance Single submitter
- BMF p.Ser45Gly Uncertain significance Single submitter
- BMF p.Ser77Thr Uncertain significance Single submitter
- BMF p.Thr24Ile Uncertain significance Single submitter
- BMF p.Thr63Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All BMF variants
Uncertain significance 28
- p.Ala100Thr Single submitter ⚠
- p.Ala171Thr Single submitter ⚠
- p.Arg103Leu Single submitter ⚠
- p.Arg135Gln Single submitter ⚠
- p.Arg94Gln Single submitter ⚠
- p.Asp12Asn Single submitter ⚠
- p.Gln16His Single submitter ⚠
- p.Glu118Val Single submitter ⚠
- p.Glu176Gln Single submitter ⚠
- p.Glu2Gln Single submitter ⚠
- p.Glu90Gly Single submitter ⚠
- p.Glu90Val Single submitter ⚠
- p.Glu91Gly Single submitter ⚠
- p.Gly180Arg Single submitter ⚠
- p.His168Tyr Single submitter ⚠
- p.Ile116Thr Single submitter ⚠
- p.Leu95Pro Single submitter ⚠
- p.Pro121Leu Single submitter ⚠
- p.Pro17Leu Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro62Ser Single submitter ⚠
- p.Pro75Leu Single submitter ⚠
- p.Ser28Gly Single submitter ⚠
- p.Ser45Gly Single submitter ⚠
- p.Ser77Thr Single submitter ⚠
- p.Thr24Ile Single submitter ⚠
- p.Thr63Ala Single submitter ⚠