BMP5 — 84 ClinVar variants
All ClinVar germline BMP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
2 Likely pathogenic · 8 Benign · 8 Likely benign · 66 Uncertain significance
Full BMP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BMP5 p.Ala103Thr Uncertain significance Single submitter
- BMP5 p.Ala118Asp Uncertain significance Single submitter
- BMP5 p.Ala25Thr Uncertain significance Single submitter
- BMP5 p.Ala74Thr Uncertain significance Single submitter
- BMP5 p.Ala77Val Uncertain significance Single submitter
- BMP5 p.Arg125His Uncertain significance Single submitter
- BMP5 p.Arg126Leu Uncertain significance Single submitter
- BMP5 p.Arg131Gln Uncertain significance Single submitter
- BMP5 p.Arg279His Uncertain significance Single submitter
- BMP5 p.Arg291Gly Uncertain significance Single submitter
- BMP5 p.Arg363Leu Uncertain significance Single submitter
- BMP5 p.Arg42Ile Uncertain significance Single submitter
- BMP5 p.Arg49Trp Uncertain significance Single submitter
- BMP5 p.Asn162His Uncertain significance Single submitter
- BMP5 p.Asn257Lys Uncertain significance Single submitter
- BMP5 p.Asn319Ser Uncertain significance Single submitter
- BMP5 p.Asn90Asp Uncertain significance Single submitter
- BMP5 p.Cys353Arg Uncertain significance Single submitter
- BMP5 p.Gln292Arg Uncertain significance Single submitter
- BMP5 p.Gln298His Uncertain significance Single submitter
- BMP5 p.Gln52Arg Uncertain significance Single submitter
- BMP5 p.Gly190Glu Uncertain significance Single submitter
- BMP5 p.His35Pro Uncertain significance Single submitter
- BMP5 p.His393Arg Uncertain significance Single submitter
- BMP5 p.Ile401Met Uncertain significance Single submitter
- BMP5 p.Leu142Val Uncertain significance Single submitter
- BMP5 p.Leu79Val Uncertain significance Single submitter
- BMP5 p.Lys306Asn Uncertain significance Single submitter
- BMP5 p.Met301Thr Uncertain significance Single submitter
- BMP5 p.Met338Ile Uncertain significance Single submitter
- BMP5 p.Phe305Leu Uncertain significance Single submitter
- BMP5 p.Pro417Thr Uncertain significance Single submitter
- BMP5 p.Pro70Leu Uncertain significance Single submitter
- BMP5 p.Ser130Pro Uncertain significance Single submitter
- BMP5 p.Ser428Cys Uncertain significance Single submitter
- BMP5 p.Ser435Thr Uncertain significance Single submitter
- BMP5 p.Ser97Leu Uncertain significance Single submitter
- BMP5 p.Thr136Ala Uncertain significance Single submitter
- BMP5 p.Tyr443Cys Uncertain significance Single submitter
- BMP5 p.Val245Met Uncertain significance Single submitter
- BMP5 p.Val283Ile Uncertain significance Single submitter
- BMP5 p.Val310Leu Uncertain significance Single submitter
Predictors split 25
The independent predictors disagree with each other — read with care.
- BMP5 p.Ala307Glu Uncertain significance Single submitter
- BMP5 p.Ala317Val Uncertain significance Single submitter
- BMP5 p.Arg125Cys Uncertain significance Single submitter
- BMP5 p.Arg131Trp Uncertain significance Single submitter
- BMP5 p.Arg238Ser Uncertain significance Single submitter
- BMP5 p.Arg326Cys Uncertain significance Single submitter
- BMP5 p.Arg449His Uncertain significance Single submitter
- BMP5 p.Arg49Gln Uncertain significance Single submitter
- BMP5 p.Asn262Lys Uncertain significance Single submitter
- BMP5 p.Asp244Gly Uncertain significance Single submitter
- BMP5 p.Glu348Lys Uncertain significance Single submitter
- BMP5 p.Glu375Gln Uncertain significance Single submitter
- BMP5 p.Ile214Val Uncertain significance Single submitter
- BMP5 p.Leu142Pro Uncertain significance Single submitter
- BMP5 p.Lys284Asn Uncertain significance Single submitter
- BMP5 p.Lys322Glu Uncertain significance Single submitter
- BMP5 p.Phe209Leu Benign Single submitter
-
BMP5 p.Ser347Arg
Uncertain significance
Single submitter
BMP5-related disorder
- BMP5 p.Thr132Met Uncertain significance Single submitter
- BMP5 p.Thr136Asn Uncertain significance Single submitter
- BMP5 p.Tyr123Cys Uncertain significance Single submitter
- BMP5 p.Tyr219His Uncertain significance Single submitter
- BMP5 p.Tyr344Cys Uncertain significance Single submitter
- BMP5 p.Val414Ile Uncertain significance Single submitter
- BMP5 p.Val447Ile Uncertain significance Single submitter
All BMP5 variants
Likely pathogenic 2
- c.1104+2del Single submitter Microtia
- p.Gly30fs Single submitter Microtia
Benign 8
- c.1105-29GT[13] Single submitter
- p.Asn121Ser Single submitter
- p.His356= Single submitter
- p.Phe209Leu Single submitter ⚠
- p.Asn282= No assertion criteria BMP5-related disorder
- p.Ile127Lys No assertion criteria BMP5-related disorder
- p.Ser37= No assertion criteria BMP5-related disorder
- p.Tyr377= No assertion criteria BMP5-related disorder
Likely benign 8
- p.Asn207Ser Single submitter
- p.Asn90Ser Single submitter
- p.Tyr443= Single submitter
- c.1105-29GT[11] No assertion criteria BMP5-related disorder
- c.1105-29GT[15] No assertion criteria BMP5-related disorder
- c.1105-29GT[9] No assertion criteria BMP5-related disorder
- p.Gln298= No assertion criteria BMP5-related disorder
- p.Val101= No assertion criteria BMP5-related disorder
Uncertain significance 66
- p.Ala103Thr Single submitter ⚠
- p.Ala118Asp Single submitter ⚠
- p.Ala25Thr Single submitter ⚠
- p.Ala307Glu Single submitter ⚠
- p.Ala317Val Single submitter ⚠
- p.Ala74Thr Single submitter ⚠
- p.Ala77Val Single submitter ⚠
- p.Arg125Cys Single submitter ⚠
- p.Arg125His Single submitter ⚠
- p.Arg126Leu Single submitter ⚠
- p.Arg131Gln Single submitter ⚠
- p.Arg131Trp Single submitter ⚠
- p.Arg238Ser Single submitter ⚠
- p.Arg279His Single submitter ⚠
- p.Arg291Gly Single submitter ⚠
- p.Arg326Cys Single submitter ⚠
- p.Arg363Leu Single submitter ⚠
- p.Arg42Ile Single submitter ⚠
- p.Arg449His Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Arg49Trp Single submitter ⚠
- p.Asn162His Single submitter ⚠
- p.Asn257Lys Single submitter ⚠
- p.Asn262Lys Single submitter ⚠
- p.Asn319Ser Single submitter ⚠
- p.Asn90Asp Single submitter ⚠
- p.Asp244Gly Single submitter ⚠
- p.Cys353Arg Single submitter ⚠
- p.Gln292Arg Single submitter ⚠
- p.Gln298His Single submitter ⚠
- p.Gln52Arg Single submitter ⚠
- p.Glu348Lys Single submitter ⚠
- p.Glu375Gln Single submitter ⚠
- p.Gly190Glu Single submitter ⚠
- p.His35Pro Single submitter ⚠
- p.His393Arg Single submitter ⚠
- p.Ile214Val Single submitter ⚠
- p.Ile401Met Single submitter ⚠
- p.Leu142Pro Single submitter ⚠
- p.Leu142Val Single submitter ⚠
- p.Leu79Val Single submitter ⚠
- p.Lys284Asn Single submitter ⚠
- p.Lys306Asn Single submitter ⚠
- p.Lys322Glu Single submitter ⚠
- p.Met301Thr Single submitter ⚠
- p.Met338Ile Single submitter ⚠
- p.Phe305Leu Single submitter ⚠
- p.Pro417Thr Single submitter ⚠
- p.Pro70Leu Single submitter ⚠
- p.Ser130Pro Single submitter ⚠
- p.Ser347Arg Single submitter BMP5-related disorder ⚠
- p.Ser428Cys Single submitter ⚠
- p.Ser435Thr Single submitter ⚠
- p.Ser97Leu Single submitter ⚠
- p.Thr132Met Single submitter ⚠
- p.Thr136Ala Single submitter ⚠
- p.Thr136Asn Single submitter ⚠
- p.Tyr123Cys Single submitter ⚠
- p.Tyr219His Single submitter ⚠
- p.Tyr344Cys Single submitter ⚠
- p.Tyr443Cys Single submitter ⚠
- p.Val245Met Single submitter ⚠
- p.Val283Ile Single submitter ⚠
- p.Val310Leu Single submitter ⚠
- p.Val414Ile Single submitter ⚠
- p.Val447Ile Single submitter ⚠