BMP2K — 100 ClinVar variants

All ClinVar germline BMP2K variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 96 flagged for review →

1 Benign · 1 Benign/Likely benign · 2 Likely benign · 96 Uncertain significance

Full BMP2K gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 96

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 41

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

Predictors split 55

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

All BMP2K variants

Benign 1

p.Gln483_Gln486del Single submitter

Benign/Likely benign 1

p.Gln1161Ter Multiple submitters

Likely benign 2

p.Asn277Ser Single submitter
p.Val931Ile Single submitter

Uncertain significance 96

p.Ala165Val Single submitter ⚠
p.Ala231Ser Single submitter ⚠
p.Ala393Thr Single submitter ⚠
p.Arg179Trp Single submitter ⚠
p.Arg285Cys Single submitter ⚠
p.Arg69Cys Single submitter ⚠
p.Arg69His Single submitter ⚠
p.Arg6Leu Single submitter ⚠
p.Arg94Lys Single submitter ⚠
p.Asn236Ser Single submitter ⚠
p.Asn289Tyr Single submitter ⚠
p.Asn327Ser Single submitter ⚠
p.Asn329Ser Single submitter ⚠
p.Asn597Ser Single submitter ⚠
p.Asn773Asp Single submitter ⚠
p.Asn84Asp Single submitter ⚠
p.Asp180Ala Single submitter ⚠
p.Asp180Glu Single submitter ⚠
p.Cys114Ser Single submitter ⚠
p.Cys163Ser Single submitter ⚠
p.Cys172Arg Single submitter ⚠
p.Cys292Gly Single submitter ⚠
p.Cys32Gly Single submitter ⚠
p.Gln429Lys Single submitter ⚠
p.Gln485His Single submitter ⚠
p.Gln50Glu Single submitter ⚠
p.Gln50Pro Single submitter ⚠
p.Gln517His Single submitter ⚠
p.Gln532Glu Single submitter ⚠
p.Gln532His Single submitter ⚠
p.Gln541Arg Single submitter ⚠
p.Gln546Arg Single submitter ⚠
p.Glu184Gly Single submitter ⚠
p.Glu675Gly Single submitter ⚠
p.Gly15Asp Single submitter ⚠
p.Gly20Ala Single submitter ⚠
p.Gly21Cys Single submitter ⚠
p.Gly24Asp Single submitter ⚠
p.Gly31Asp Single submitter ⚠
p.Gly33Ala Single submitter ⚠
p.Gly35Arg Single submitter ⚠
p.Gly405Arg Single submitter ⚠
p.Gly587Glu Single submitter ⚠
p.His291Arg Single submitter ⚠
p.His457Arg Single submitter ⚠
p.His459Asp Single submitter ⚠
p.His459Leu Single submitter ⚠
p.His494Arg Single submitter ⚠
p.Ile176Met Single submitter ⚠
p.Ile176Val Single submitter ⚠
p.Ile249Thr Single submitter ⚠
p.Ile333Val Single submitter ⚠
p.Ile368Val Single submitter ⚠
p.Ile615Val Single submitter ⚠
p.Ile98Val Single submitter ⚠
p.Leu387Arg Single submitter ⚠
p.Leu635Phe Single submitter ⚠
p.Lys246Asn Single submitter ⚠
p.Lys317Glu Single submitter ⚠
p.Met513Thr Single submitter ⚠
p.Met537Ile Single submitter ⚠
p.Met7Val Single submitter ⚠
p.Phe404Leu Single submitter ⚠
p.Phe44Leu Single submitter ⚠
p.Phe66Ser Single submitter ⚠
p.Pro175Thr Single submitter ⚠
p.Pro302Leu Single submitter ⚠
p.Pro340Leu Single submitter ⚠
p.Pro363Gln Single submitter ⚠
p.Pro384Arg Single submitter ⚠
p.Pro526Leu Single submitter ⚠
p.Pro526Ser Single submitter ⚠
p.Pro538Leu Single submitter ⚠
p.Pro555Leu Single submitter ⚠
p.Pro619Ser Single submitter ⚠
p.Pro716Ser Single submitter ⚠
p.Pro8Ser Single submitter ⚠
p.Ser1029Thr Single submitter ⚠
p.Ser269Asn Single submitter ⚠
p.Ser34Phe Single submitter ⚠
p.Ser37Trp Single submitter ⚠
p.Ser572Leu Single submitter ⚠
p.Ser593Phe Single submitter ⚠
p.Ser633Cys Single submitter ⚠
p.Thr148Met Single submitter ⚠
p.Thr203Ser Single submitter ⚠
p.Thr579Ile Single submitter ⚠
p.Trp624Leu Single submitter ⚠
p.Tyr229Cys Single submitter ⚠
p.Tyr578His Single submitter ⚠
p.Val116Ile Single submitter ⚠
p.Val126Ile Single submitter ⚠
p.Val139Met Single submitter ⚠
p.Val166Ala Single submitter ⚠
p.Val271Ile Single submitter ⚠
p.Val586Ala Single submitter ⚠