BMP6 — 122 ClinVar variants
All ClinVar germline BMP6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
1 Likely pathogenic · 11 Benign · 1 Benign/Likely benign · 18 Likely benign · 91 Uncertain significance
Full BMP6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
BMP6 p.Leu137Met
Likely pathogenic
Single submitter
primary ovarian failure
Predictors lean, ClinVar uncertain 56
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BMP6 p.Leu209Pro
Uncertain significance
Multiple submitters
iron overload, susceptibility to
- BMP6 p.Ala142Thr Uncertain significance Single submitter
- BMP6 p.Ala152Glu Uncertain significance Single submitter
- BMP6 p.Ala203Ser Uncertain significance Single submitter
- BMP6 p.Ala254Thr Uncertain significance Single submitter
- BMP6 p.Ala451Thr Uncertain significance Single submitter
- BMP6 p.Arg233Gln Uncertain significance Single submitter
- BMP6 p.Arg334Gly Uncertain significance Single submitter
- BMP6 p.Arg94Trp Uncertain significance Single submitter
- BMP6 p.Asn147Lys Uncertain significance Single submitter
- BMP6 p.Asn147Ser Uncertain significance Single submitter
- BMP6 p.Asn210Asp Uncertain significance Single submitter
- BMP6 p.Asn404Ser Uncertain significance Single submitter
- BMP6 p.Asp150Glu Uncertain significance Single submitter
- BMP6 p.Asp213Asn Uncertain significance Single submitter
- BMP6 p.Asp354Gly Uncertain significance Single submitter
- BMP6 p.Asp428Asn Uncertain significance Single submitter
- BMP6 p.Gln110Arg Uncertain significance Single submitter
- BMP6 p.Gln158Glu Uncertain significance Single submitter
- BMP6 p.Gln173Pro Uncertain significance Single submitter
- BMP6 p.Gln232Arg Uncertain significance Single submitter
- BMP6 p.Gln80Pro Uncertain significance Single submitter
- BMP6 p.Glu156Gln Uncertain significance Single submitter
- BMP6 p.Glu164Lys Uncertain significance Single submitter
- BMP6 p.Gly16Trp Uncertain significance Single submitter
- BMP6 p.Gly195Arg Uncertain significance Single submitter
- BMP6 p.Gly23Arg Uncertain significance Single submitter
- BMP6 p.Ile83Met Uncertain significance Single submitter
-
BMP6 p.Ile83Val
Uncertain significance
Single submitter
iron overload, susceptibility to
- BMP6 p.Leu273His Uncertain significance Single submitter
- BMP6 p.Leu43Val Uncertain significance Single submitter
- BMP6 p.Leu89Phe Uncertain significance Single submitter
- BMP6 p.Phe208Leu Uncertain significance Single submitter
- BMP6 p.Phe208Ser Uncertain significance Single submitter
- BMP6 p.Pro124Ser Uncertain significance Single submitter
- BMP6 p.Pro125Leu Uncertain significance Single submitter
- BMP6 p.Pro133Arg Uncertain significance Single submitter
- BMP6 p.Pro175Ser Uncertain significance Single submitter
- BMP6 p.Pro176Ala Uncertain significance Single submitter
- BMP6 p.Pro190Leu Uncertain significance Single submitter
- BMP6 p.Pro190Thr Uncertain significance Single submitter
-
BMP6 p.Pro199Ala
Uncertain significance
Single submitter
iron overload, susceptibility to
- BMP6 p.Pro24Leu Uncertain significance Single submitter
- BMP6 p.Pro476Leu Uncertain significance Single submitter
- BMP6 p.Pro57Ser Uncertain significance Single submitter
- BMP6 p.Pro93Leu Uncertain significance Single submitter
- BMP6 p.Ser144Thr Uncertain significance Single submitter
- BMP6 p.Ser202Gly Uncertain significance Single submitter
- BMP6 p.Ser202Thr Uncertain significance Single submitter
- BMP6 p.Ser301Ala Uncertain significance Single submitter
- BMP6 p.Ser366Arg Uncertain significance Single submitter
- BMP6 p.Ser405Asn Uncertain significance Single submitter
- BMP6 p.Ser487Leu Uncertain significance Single submitter
- BMP6 p.Thr311Met Uncertain significance Single submitter
- BMP6 p.Thr373Ser Uncertain significance Single submitter
- BMP6 p.Trp10Leu Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- BMP6 p.Ala33Asp Uncertain significance Single submitter
- BMP6 p.Ala33Thr Uncertain significance Single submitter
-
BMP6 p.Arg257His
Likely benign
Single submitter
iron overload, susceptibility to
- BMP6 p.Arg296His Uncertain significance Single submitter
- BMP6 p.Arg342Gln Uncertain significance Single submitter
- BMP6 p.Arg77Gln Uncertain significance Single submitter
- BMP6 p.Asn315Ser Uncertain significance Single submitter
- BMP6 p.Asp335Val Uncertain significance Single submitter
-
BMP6 p.Gln113Glu
Benign
Single submitter
iron overload, susceptibility to
- BMP6 p.Gln114Glu Uncertain significance Single submitter
- BMP6 p.Gln115Arg Uncertain significance Single submitter
- BMP6 p.Glu111Lys Uncertain significance Single submitter
- BMP6 p.Glu302Lys Uncertain significance Single submitter
- BMP6 p.Glu471Lys Uncertain significance Single submitter
- BMP6 p.Gly155Trp Uncertain significance Single submitter
- BMP6 p.Gly351Ser Uncertain significance Single submitter
- BMP6 p.Gly98Cys Uncertain significance Single submitter
- BMP6 p.His338Arg Uncertain significance Single submitter
- BMP6 p.His97Tyr Uncertain significance Single submitter
- BMP6 p.Leu143Val Uncertain significance Single submitter
- BMP6 p.Leu187Phe Uncertain significance Single submitter
- BMP6 p.Leu316Val Uncertain significance Single submitter
- BMP6 p.Leu408Phe Uncertain significance Single submitter
- BMP6 p.Leu71Val Uncertain significance Single submitter
- BMP6 p.Met79Thr Uncertain significance Single submitter
- BMP6 p.Pro133Ser Uncertain significance Single submitter
- BMP6 p.Pro95Leu Uncertain significance Single submitter
-
BMP6 p.Pro95Ser
Likely benign
Single submitter
iron overload, susceptibility to
- BMP6 p.Ser144Phe Uncertain significance Single submitter
- BMP6 p.Ser192Phe Uncertain significance Single submitter
- BMP6 p.Ser202Arg Uncertain significance Single submitter
- BMP6 p.Ser202Asn Uncertain significance Single submitter
- BMP6 p.Ser275Asn Uncertain significance Single submitter
- BMP6 p.Thr320Ile Uncertain significance Single submitter
- BMP6 p.Tyr224Asp Uncertain significance Single submitter
- BMP6 p.Val86Met Uncertain significance Single submitter
All BMP6 variants
Likely pathogenic 1
- p.Leu137Met Single submitter primary ovarian failure ⚠
Benign 11
- p.Gln113Glu Single submitter iron overload, susceptibility to ⚠
- p.Ala189Thr No assertion criteria BMP6-related disorder
- p.Ala212= No assertion criteria BMP6-related disorder
- p.Ala343= No assertion criteria BMP6-related disorder
- p.Arg28Gln No assertion criteria BMP6-related disorder
- p.Asp354= No assertion criteria BMP6-related disorder
- p.Gln113= No assertion criteria BMP6-related disorder
- p.Gln118_Leu119insGln No assertion criteria BMP6-related disorder
- p.Glu75= No assertion criteria BMP6-related disorder
- p.His338= No assertion criteria BMP6-related disorder
- p.Val368= No assertion criteria BMP6-related disorder
Benign/Likely benign 1
- p.Ser160= Multiple submitters
Likely benign 18
- p.Arg257His Single submitter iron overload, susceptibility to ⚠
- p.Asn147Asp Single submitter
- p.Gly151= Single submitter
- p.Gly155Glu Single submitter
- p.Leu96Pro Single submitter iron overload, susceptibility to
- p.Met264Val Single submitter
- p.Pro95Ser Single submitter iron overload, susceptibility to ⚠
- p.Ser495= Single submitter
- c.1392+7T>G No assertion criteria BMP6-related disorder
- c.665-3T>C No assertion criteria BMP6-related disorder
- p.Ala189= No assertion criteria BMP6-related disorder
- p.Arg396= No assertion criteria BMP6-related disorder
- p.Gln204= No assertion criteria BMP6-related disorder
- p.His369= No assertion criteria BMP6-related disorder
- p.His458= No assertion criteria BMP6-related disorder
- p.Leu221= No assertion criteria BMP6-related disorder
- p.Leu293= No assertion criteria BMP6-related disorder
- p.Val394Met No assertion criteria BMP6-related disorder
Uncertain significance 91
- p.Leu209Pro Multiple submitters iron overload, susceptibility to ⚠
- c.-377G>A Single submitter
- p.Ala142Thr Single submitter ⚠
- p.Ala152Glu Single submitter ⚠
- p.Ala203Ser Single submitter ⚠
- p.Ala212Met Single submitter
- p.Ala254Thr Single submitter ⚠
- p.Ala33Asp Single submitter ⚠
- p.Ala33Thr Single submitter ⚠
- p.Ala451Thr Single submitter ⚠
- p.Arg233Gln Single submitter ⚠
- p.Arg296His Single submitter ⚠
- p.Arg334Gly Single submitter ⚠
- p.Arg342Gln Single submitter ⚠
- p.Arg77Gln Single submitter ⚠
- p.Arg94Trp Single submitter ⚠
- p.Asn147Lys Single submitter ⚠
- p.Asn147Ser Single submitter ⚠
- p.Asn210Asp Single submitter ⚠
- p.Asn315Ser Single submitter ⚠
- p.Asn404Ser Single submitter ⚠
- p.Asp150Glu Single submitter ⚠
- p.Asp213Asn Single submitter ⚠
- p.Asp335Val Single submitter ⚠
- p.Asp354Gly Single submitter ⚠
- p.Asp428Asn Single submitter ⚠
- p.Gln110Arg Single submitter ⚠
- p.Gln114Glu Single submitter ⚠
- p.Gln115Arg Single submitter ⚠
- p.Gln158Glu Single submitter ⚠
- p.Gln173Pro Single submitter ⚠
- p.Gln232Arg Single submitter ⚠
- p.Gln80Pro Single submitter ⚠
- p.Glu111Lys Single submitter ⚠
- p.Glu156Gln Single submitter ⚠
- p.Glu164Lys Single submitter ⚠
- p.Glu302Lys Single submitter ⚠
- p.Glu471Lys Single submitter ⚠
- p.Gly155Trp Single submitter ⚠
- p.Gly16Trp Single submitter ⚠
- p.Gly195Arg Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly351Ser Single submitter ⚠
- p.Gly98Cys Single submitter ⚠
- p.His338Arg Single submitter ⚠
- p.His97Tyr Single submitter ⚠
- p.Ile83Met Single submitter ⚠
- p.Ile83Val Single submitter iron overload, susceptibility to ⚠
- p.Leu143Val Single submitter ⚠
- p.Leu187Phe Single submitter ⚠
- p.Leu273His Single submitter ⚠
- p.Leu316Val Single submitter ⚠
- p.Leu408Phe Single submitter ⚠
- p.Leu43Val Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Leu89Phe Single submitter ⚠
- p.Met79Thr Single submitter ⚠
- p.Phe208Leu Single submitter ⚠
- p.Phe208Ser Single submitter ⚠
- p.Pro124Ser Single submitter ⚠
- p.Pro125Leu Single submitter ⚠
- p.Pro133Arg Single submitter ⚠
- p.Pro133Ser Single submitter ⚠
- p.Pro175Ser Single submitter ⚠
- p.Pro176Ala Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro190Thr Single submitter ⚠
- p.Pro199Ala Single submitter iron overload, susceptibility to ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro476Leu Single submitter ⚠
- p.Pro57Ser Single submitter ⚠
- p.Pro93Leu Single submitter ⚠
- p.Pro95Leu Single submitter ⚠
- p.Ser144Phe Single submitter ⚠
- p.Ser144Thr Single submitter ⚠
- p.Ser192Phe Single submitter ⚠
- p.Ser202Arg Single submitter ⚠
- p.Ser202Asn Single submitter ⚠
- p.Ser202Gly Single submitter ⚠
- p.Ser202Thr Single submitter ⚠
- p.Ser275Asn Single submitter ⚠
- p.Ser301Ala Single submitter ⚠
- p.Ser366Arg Single submitter ⚠
- p.Ser405Asn Single submitter ⚠
- p.Ser487Leu Single submitter ⚠
- p.Thr311Met Single submitter ⚠
- p.Thr320Ile Single submitter ⚠
- p.Thr373Ser Single submitter ⚠
- p.Trp10Leu Single submitter ⚠
- p.Tyr224Asp Single submitter ⚠
- p.Val86Met Single submitter ⚠