BMP8B — 82 ClinVar variants

All ClinVar germline BMP8B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

1 Conflicting · 2 Benign · 2 Benign/Likely benign · 5 Likely benign · 72 Uncertain significance

Full BMP8B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 40

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 34

The independent predictors disagree with each other — read with care.

All BMP8B variants

Conflicting classifications of pathogenicity 1

c.673+3659A>G Single submitter ⚠

Benign 2

p.Ser276Thr Multiple submitters
c.1059+10A>G Single submitter

Benign/Likely benign 2

c.1059+579A>G Multiple submitters
p.Ser326= Multiple submitters

Likely benign 5

p.Leu118= Multiple submitters
p.Ala365= Single submitter
p.Arg116His Single submitter ⚠
p.Gly297Ser Single submitter
p.Val248Met Single submitter

Uncertain significance 72

p.Ala344Val Single submitter ⚠
p.Ala348Thr Single submitter ⚠
p.Ala361Thr Single submitter ⚠
p.Ala365Val Single submitter ⚠
p.Ala368Val Single submitter ⚠
p.Ala374Thr Single submitter ⚠
p.Ala38Val Single submitter ⚠
p.Ala85Thr Single submitter ⚠
p.Arg114Gly Single submitter ⚠
p.Arg116Cys Single submitter ⚠
p.Arg129Cys Single submitter ⚠
p.Arg129His Single submitter ⚠
p.Arg129Leu Single submitter ⚠
p.Arg242Cys Single submitter ⚠
p.Arg260His Single submitter ⚠
p.Arg263Gln Single submitter ⚠
p.Arg263Trp Single submitter ⚠
p.Arg269Ser Single submitter ⚠
p.Arg270Lys Single submitter ⚠
p.Arg284Gln Single submitter ⚠
p.Arg303Gln Single submitter ⚠
p.Arg392Cys Single submitter ⚠
p.Arg392Leu Single submitter ⚠
p.Arg57Trp Single submitter ⚠
p.Arg61Gly Single submitter ⚠
p.Asp115His Single submitter ⚠
p.Asp115Tyr Single submitter ⚠
p.Asp43Glu Single submitter ⚠
p.Asp87Asn Single submitter ⚠
p.Asp87Glu Single submitter ⚠
p.Asp88His Single submitter ⚠
p.Cys31Tyr Single submitter ⚠
p.Gln299Arg Single submitter ⚠
p.Gln351Lys Single submitter ⚠
p.Glu122Gln Single submitter ⚠
p.Glu127Asp Single submitter ⚠
p.Glu278Lys Single submitter ⚠
p.Glu96Gly Single submitter ⚠
p.Gly20Arg Single submitter ⚠
p.Gly22Cys Single submitter ⚠
p.Gly234Arg Single submitter ⚠
p.Gly234Ser Single submitter ⚠
p.Gly37Asp Single submitter ⚠
p.Gly400Ala Single submitter ⚠
p.Gly400Ser Single submitter ⚠
p.Gly53Arg Single submitter ⚠
p.Gly53Val Single submitter ⚠
p.Gly86Ser Single submitter ⚠
p.Gly92Cys Single submitter ⚠
p.His124Arg Single submitter ⚠
p.Ile259Asn Single submitter ⚠
p.Leu179Ser Single submitter ⚠
p.Leu36Val Single submitter ⚠
p.Met394Leu Single submitter ⚠
p.Phe166Tyr Single submitter ⚠
p.Phe76Leu Single submitter ⚠
p.Pro123Leu Single submitter ⚠
p.Pro256Arg Single submitter ⚠
p.Pro258Leu Single submitter ⚠
p.Pro262Ser Single submitter ⚠
p.Pro273Gln Single submitter ⚠
p.Pro273Leu Single submitter ⚠
p.Pro27Ser Single submitter ⚠
p.Pro359Thr Single submitter ⚠
p.Pro369Ser Single submitter ⚠
p.Ser227Asn Single submitter ⚠
p.Ser352Tyr Single submitter ⚠
p.Ser72Thr Single submitter ⚠
p.Val163Ile Single submitter ⚠
p.Val228Met Single submitter ⚠
p.Val396Phe Single submitter ⚠
p.Val44Leu Single submitter ⚠