BLMH — 45 ClinVar variants
All ClinVar germline BLMH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Benign · 2 Likely benign · 42 Uncertain significance
Full BLMH gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 15
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BLMH p.Ala313Val Uncertain significance Single submitter
- BLMH p.Ala314Ser Uncertain significance Single submitter
- BLMH p.Arg72Gln Uncertain significance Single submitter
- BLMH p.Gln28Arg Uncertain significance Single submitter
- BLMH p.Gln99Arg Uncertain significance Single submitter
- BLMH p.Glu432Asp Uncertain significance Single submitter
- BLMH p.Glu96Asp Uncertain significance Single submitter
- BLMH p.Ile15Leu Uncertain significance Single submitter
- BLMH p.Lys282Glu Uncertain significance Single submitter
- BLMH p.Met370Ile Uncertain significance Single submitter
- BLMH p.Pro250Arg Uncertain significance Single submitter
- BLMH p.Ser8Leu Uncertain significance Single submitter
- BLMH p.Val108Ile Uncertain significance Single submitter
- BLMH p.Val11Ile Uncertain significance Single submitter
- BLMH p.Val211Ile Uncertain significance Single submitter
Predictors split 27
The independent predictors disagree with each other — read with care.
- BLMH p.Ala117Gly Uncertain significance Single submitter
- BLMH p.Ala13Val Uncertain significance Single submitter
- BLMH p.Ala314Val Uncertain significance Single submitter
- BLMH p.Arg191Leu Uncertain significance Single submitter
- BLMH p.Arg43Trp Uncertain significance Single submitter
- BLMH p.Asn241Ile Uncertain significance Single submitter
- BLMH p.Asn281Ser Uncertain significance Single submitter
- BLMH p.Asn333Ser Uncertain significance Single submitter
- BLMH p.Asn333Thr Uncertain significance Single submitter
- BLMH p.Asn342His Uncertain significance Single submitter
- BLMH p.Asp129Asn Uncertain significance Single submitter
- BLMH p.Asp425Gly Uncertain significance Single submitter
- BLMH p.Gln16His Uncertain significance Single submitter
- BLMH p.Glu432Val Uncertain significance Single submitter
- BLMH p.Glu440Lys Uncertain significance Single submitter
- BLMH p.Gly199Arg Uncertain significance Single submitter
- BLMH p.Gly387Asp Uncertain significance Single submitter
- BLMH p.Ile305Thr Uncertain significance Single submitter
- BLMH p.Ile39Phe Uncertain significance Single submitter
- BLMH p.Leu283Arg Uncertain significance Single submitter
- BLMH p.Leu363Val Uncertain significance Single submitter
- BLMH p.Lys240Thr Uncertain significance Single submitter
- BLMH p.Lys310Glu Uncertain significance Single submitter
- BLMH p.Phe332Val Uncertain significance Single submitter
- BLMH p.Thr230Ile Uncertain significance Single submitter
- BLMH p.Val119Leu Uncertain significance Single submitter
- BLMH p.Val433Met Uncertain significance Single submitter
All BLMH variants
Benign 1
- p.Ile443Val Single submitter Alzheimer disease type 1
Likely benign 2
- p.Ile64Val Single submitter
- p.Ser116Asn Single submitter
Uncertain significance 42
- p.Ala117Gly Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala313Val Single submitter ⚠
- p.Ala314Ser Single submitter ⚠
- p.Ala314Val Single submitter ⚠
- p.Arg191Leu Single submitter ⚠
- p.Arg43Trp Single submitter ⚠
- p.Arg72Gln Single submitter ⚠
- p.Asn241Ile Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asn333Ser Single submitter ⚠
- p.Asn333Thr Single submitter ⚠
- p.Asn342His Single submitter ⚠
- p.Asp129Asn Single submitter ⚠
- p.Asp425Gly Single submitter ⚠
- p.Gln16His Single submitter ⚠
- p.Gln28Arg Single submitter ⚠
- p.Gln99Arg Single submitter ⚠
- p.Glu432Asp Single submitter ⚠
- p.Glu432Val Single submitter ⚠
- p.Glu440Lys Single submitter ⚠
- p.Glu96Asp Single submitter ⚠
- p.Gly199Arg Single submitter ⚠
- p.Gly387Asp Single submitter ⚠
- p.Ile15Leu Single submitter ⚠
- p.Ile305Thr Single submitter ⚠
- p.Ile39Phe Single submitter ⚠
- p.Leu283Arg Single submitter ⚠
- p.Leu363Val Single submitter ⚠
- p.Lys240Thr Single submitter ⚠
- p.Lys282Glu Single submitter ⚠
- p.Lys310Glu Single submitter ⚠
- p.Met370Ile Single submitter ⚠
- p.Phe332Val Single submitter ⚠
- p.Pro250Arg Single submitter ⚠
- p.Ser8Leu Single submitter ⚠
- p.Thr230Ile Single submitter ⚠
- p.Val108Ile Single submitter ⚠
- p.Val119Leu Single submitter ⚠
- p.Val11Ile Single submitter ⚠
- p.Val211Ile Single submitter ⚠
- p.Val433Met Single submitter ⚠