BMP8A — 80 ClinVar variants
All ClinVar germline BMP8A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
1 Benign · 8 Likely benign · 71 Uncertain significance
Full BMP8A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BMP8A p.Ala348Val Uncertain significance Single submitter
- BMP8A p.Ala38Pro Uncertain significance Single submitter
- BMP8A p.Arg188Gln Uncertain significance Single submitter
- BMP8A p.Arg266Ser Uncertain significance Single submitter
- BMP8A p.Arg284Gln Uncertain significance Single submitter
- BMP8A p.Arg303Trp Uncertain significance Single submitter
- BMP8A p.Arg4Ser Uncertain significance Single submitter
- BMP8A p.Arg59Gln Uncertain significance Single submitter
- BMP8A p.Asn110Ser Uncertain significance Single submitter
- BMP8A p.Asp87Glu Uncertain significance Single submitter
- BMP8A p.Cys330Arg Uncertain significance Single submitter
- BMP8A p.Cys341Tyr Uncertain significance Single submitter
- BMP8A p.Gln299Arg Uncertain significance Single submitter
- BMP8A p.Gly297Arg Uncertain significance Single submitter
- BMP8A p.Gly30Cys Uncertain significance Single submitter
- BMP8A p.Gly53Glu Uncertain significance Single submitter
- BMP8A p.Gly56Arg Uncertain significance Single submitter
- BMP8A p.His82Asp Uncertain significance Single submitter
- BMP8A p.Leu197Pro Uncertain significance Single submitter
- BMP8A p.Leu388Pro Uncertain significance Single submitter
- BMP8A p.Leu75Arg Uncertain significance Single submitter
- BMP8A p.Met165Thr Uncertain significance Single submitter
- BMP8A p.Pro273Leu Uncertain significance Single submitter
- BMP8A p.Pro280Leu Uncertain significance Single submitter
- BMP8A p.Pro29Ala Uncertain significance Single submitter
- BMP8A p.Pro337Leu Uncertain significance Single submitter
- BMP8A p.Ser309Ile Uncertain significance Single submitter
- BMP8A p.Ser352Ala Uncertain significance Single submitter
- BMP8A p.Tyr307Ser Uncertain significance Single submitter
- BMP8A p.Val109Ile Uncertain significance Single submitter
Predictors split 42
The independent predictors disagree with each other — read with care.
- BMP8A p.Ala144Val Uncertain significance Multiple submitters
- BMP8A p.Ala102Thr Uncertain significance Single submitter
- BMP8A p.Ala201Thr Uncertain significance Single submitter
- BMP8A p.Ala264Thr Uncertain significance Single submitter
- BMP8A p.Ala365Val Uncertain significance Single submitter
- BMP8A p.Ala374Thr Uncertain significance Single submitter
- BMP8A p.Ala50Val Uncertain significance Single submitter
- BMP8A p.Ala62Val Uncertain significance Single submitter
- BMP8A p.Arg116His Likely benign Single submitter
- BMP8A p.Arg147Gln Uncertain significance Single submitter
- BMP8A p.Arg210Cys Uncertain significance Single submitter
- BMP8A p.Arg210His Uncertain significance Single submitter
- BMP8A p.Arg217His Uncertain significance Single submitter
- BMP8A p.Arg217Leu Uncertain significance Single submitter
- BMP8A p.Arg239Trp Uncertain significance Single submitter
- BMP8A p.Arg242Cys Uncertain significance Single submitter
- BMP8A p.Arg263Gln Uncertain significance Single submitter
- BMP8A p.Arg298Trp Uncertain significance Single submitter
- BMP8A p.Arg302Cys Uncertain significance Single submitter
- BMP8A p.Arg302His Uncertain significance Single submitter
- BMP8A p.Arg46His Uncertain significance Single submitter
- BMP8A p.Arg61His Uncertain significance Single submitter
- BMP8A p.Asn346Ser Uncertain significance Single submitter
- BMP8A p.Asp213Tyr Uncertain significance Single submitter
- BMP8A p.Asp224Gly Uncertain significance Single submitter
- BMP8A p.Glu223Lys Uncertain significance Single submitter
- BMP8A p.Glu305Lys Uncertain significance Single submitter
- BMP8A p.Glu305Val Uncertain significance Single submitter
- BMP8A p.Glu331Asp Uncertain significance Single submitter
- BMP8A p.Gly138Glu Uncertain significance Single submitter
- BMP8A p.Gly21Asp Uncertain significance Single submitter
- BMP8A p.Gly234Ser Uncertain significance Single submitter
- BMP8A p.Gly314Ser Uncertain significance Single submitter
- BMP8A p.Gly56Trp Uncertain significance Single submitter
- BMP8A p.Leu353Val Uncertain significance Single submitter
- BMP8A p.Pro256Leu Uncertain significance Single submitter
- BMP8A p.Pro74Leu Uncertain significance Single submitter
- BMP8A p.Pro94Leu Uncertain significance Single submitter
- BMP8A p.Thr186Met Uncertain significance Single submitter
- BMP8A p.Val228Met Uncertain significance Single submitter
- BMP8A p.Val248Ala Uncertain significance Single submitter
- BMP8A p.Val308Ile Uncertain significance Single submitter
All BMP8A variants
Benign 1
- p.Arg293His Multiple submitters
Likely benign 8
- p.Arg116His Single submitter ⚠
- p.Asn360Asp Single submitter
- p.Gln185= Single submitter
- p.Gln97Arg Single submitter
- p.Gly86Ser Single submitter
- p.Val109= Single submitter
- p.Val248Met Single submitter
- p.Val44Met Single submitter
Uncertain significance 71
- p.Ala144Val Multiple submitters ⚠
- p.Ala102Thr Single submitter ⚠
- p.Ala201Thr Single submitter ⚠
- p.Ala264Thr Single submitter ⚠
- p.Ala348Val Single submitter ⚠
- p.Ala365Val Single submitter ⚠
- p.Ala374Thr Single submitter ⚠
- p.Ala38Pro Single submitter ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala62Val Single submitter ⚠
- p.Arg147Gln Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg210Cys Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg217His Single submitter ⚠
- p.Arg217Leu Single submitter ⚠
- p.Arg239Trp Single submitter ⚠
- p.Arg242Cys Single submitter ⚠
- p.Arg263Gln Single submitter ⚠
- p.Arg266Ser Single submitter ⚠
- p.Arg284Gln Single submitter ⚠
- p.Arg298Trp Single submitter ⚠
- p.Arg302Cys Single submitter ⚠
- p.Arg302His Single submitter ⚠
- p.Arg303Trp Single submitter ⚠
- p.Arg46His Single submitter ⚠
- p.Arg4Ser Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Arg61His Single submitter ⚠
- p.Asn110Ser Single submitter ⚠
- p.Asn346Ser Single submitter ⚠
- p.Asp213Tyr Single submitter ⚠
- p.Asp224Gly Single submitter ⚠
- p.Asp87Glu Single submitter ⚠
- p.Cys330Arg Single submitter ⚠
- p.Cys341Tyr Single submitter ⚠
- p.Gln299Arg Single submitter ⚠
- p.Glu223Lys Single submitter ⚠
- p.Glu305Lys Single submitter ⚠
- p.Glu305Val Single submitter ⚠
- p.Glu331Asp Single submitter ⚠
- p.Gly138Glu Single submitter ⚠
- p.Gly21Asp Single submitter ⚠
- p.Gly234Ser Single submitter ⚠
- p.Gly297Arg Single submitter ⚠
- p.Gly30Cys Single submitter ⚠
- p.Gly314Ser Single submitter ⚠
- p.Gly53Glu Single submitter ⚠
- p.Gly56Arg Single submitter ⚠
- p.Gly56Trp Single submitter ⚠
- p.His82Asp Single submitter ⚠
- p.Leu197Pro Single submitter ⚠
- p.Leu353Val Single submitter ⚠
- p.Leu388Pro Single submitter ⚠
- p.Leu75Arg Single submitter ⚠
- p.Met165Thr Single submitter ⚠
- p.Pro256Leu Single submitter ⚠
- p.Pro273Leu Single submitter ⚠
- p.Pro280Leu Single submitter ⚠
- p.Pro29Ala Single submitter ⚠
- p.Pro337Leu Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Pro94Leu Single submitter ⚠
- p.Ser309Ile Single submitter ⚠
- p.Ser352Ala Single submitter ⚠
- p.Thr186Met Single submitter ⚠
- p.Tyr307Ser Single submitter ⚠
- p.Val109Ile Single submitter ⚠
- p.Val228Met Single submitter ⚠
- p.Val248Ala Single submitter ⚠
- p.Val308Ile Single submitter ⚠