BHMT — 53 ClinVar variants
All ClinVar germline BHMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
2 Benign · 1 Benign/Likely benign · 2 Likely benign · 48 Uncertain significance
Full BHMT 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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BHMT p.Ala182Val Uncertain significance Single submitter
- BHMT p.Ala250Ser Uncertain significance Single submitter
- BHMT p.Ala285Ser Uncertain significance Single submitter
- BHMT p.Arg108Gln Uncertain significance Single submitter
- BHMT p.Arg286Lys Uncertain significance Single submitter
- BHMT p.Arg356Trp Uncertain significance Single submitter
- BHMT p.Arg361Trp Uncertain significance Single submitter
- BHMT p.Arg57Leu Uncertain significance Single submitter
- BHMT p.Arg61Gln Uncertain significance Single submitter
- BHMT p.Gln385His Uncertain significance Single submitter
- BHMT p.Glu190Lys Uncertain significance Single submitter
- BHMT p.Glu381Lys Uncertain significance Single submitter
- BHMT p.Glu62Gln Uncertain significance Single submitter
- BHMT p.Gly214Ser Uncertain significance Single submitter
- BHMT p.Gly297Ser Uncertain significance Single submitter
- BHMT p.Ile175Thr Uncertain significance Single submitter
- BHMT p.Ile223Val Uncertain significance Single submitter
- BHMT p.Ile296Thr Uncertain significance Single submitter
- BHMT p.Lys7Gln Uncertain significance Single submitter
- BHMT p.Met71Lys Uncertain significance Single submitter
- BHMT p.Ser130Gly Uncertain significance Single submitter
- BHMT p.Ser133Gly Uncertain significance Single submitter
- BHMT p.Tyr38Asn Uncertain significance Single submitter
- BHMT p.Val118Ile Uncertain significance Single submitter
- BHMT p.Val206Leu Uncertain significance Single submitter
- BHMT p.Val70Ala Uncertain significance Single submitter
- BHMT p.Val70Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- BHMT p.Ala41Pro Uncertain significance Single submitter
- BHMT p.Ala41Thr Uncertain significance Single submitter
- BHMT p.Arg204Cys Uncertain significance Single submitter
- BHMT p.Arg57Cys Uncertain significance Single submitter
- BHMT p.Asp263Gly Uncertain significance Single submitter
- BHMT p.Cys217Gly Uncertain significance Single submitter
- BHMT p.Gln393Leu Uncertain significance Single submitter
- BHMT p.Glu54Lys Uncertain significance Single submitter
- BHMT p.Gly270Glu Uncertain significance Single submitter
- BHMT p.Ile187Ser Uncertain significance Single submitter
- BHMT p.Pro126Ser Uncertain significance Single submitter
- BHMT p.Thr390Ala Uncertain significance Single submitter
- BHMT p.Thr73Ile Uncertain significance Single submitter
- BHMT p.Trp279Arg Uncertain significance Single submitter
-
BHMT p.Cys256Tyr
Likely benign
No assertion criteria
BHMT-related disorder
All BHMT variants
Benign 2
- p.Phe74= Multiple submitters
- p.Pro197Ser Multiple submitters
Benign/Likely benign 1
- p.Gly199Ser Multiple submitters
Likely benign 2
- p.Val343Ile Single submitter
- p.Cys256Tyr No assertion criteria BHMT-related disorder ⚠
Uncertain significance 48
- p.Ala182Val Single submitter ⚠
- p.Ala210Thr Single submitter
- p.Ala250Ser Single submitter ⚠
- p.Ala285Ser Single submitter ⚠
- p.Ala41Pro Single submitter ⚠
- p.Ala41Thr Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg16His Single submitter
- p.Arg204Cys Single submitter ⚠
- p.Arg286Lys Single submitter ⚠
- p.Arg356Trp Single submitter ⚠
- p.Arg361Trp Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Arg57Leu Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Asp263Gly Single submitter ⚠
- p.Cys217Gly Single submitter ⚠
- p.Gln385His Single submitter ⚠
- p.Gln393Leu Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu381Lys Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Glu62Gln Single submitter ⚠
- p.Gly178Cys Single submitter
- p.Gly214Ser Single submitter ⚠
- p.Gly234Cys Single submitter
- p.Gly270Glu Single submitter ⚠
- p.Gly297Ser Single submitter ⚠
- p.His163Tyr Single submitter
- p.Ile175Thr Single submitter ⚠
- p.Ile187Ser Single submitter ⚠
- p.Ile223Val Single submitter ⚠
- p.Ile296Thr Single submitter ⚠
- p.Lys7Gln Single submitter ⚠
- p.Met71Lys Single submitter ⚠
- p.Pro126Ser Single submitter ⚠
- p.Ser130Gly Single submitter ⚠
- p.Ser133Gly Single submitter ⚠
- p.Thr390Ala Single submitter ⚠
- p.Thr73Ile Single submitter ⚠
- p.Trp279Arg Single submitter ⚠
- p.Tyr38Asn Single submitter ⚠
- p.Val118Ile Single submitter ⚠
- p.Val171Ala Single submitter
- p.Val206Leu Single submitter ⚠
- p.Val39Ile Single submitter
- p.Val70Ala Single submitter ⚠
- p.Val70Ile Single submitter ⚠