BHMT2 — 62 ClinVar variants
All ClinVar germline BHMT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
1 Benign · 2 Likely benign · 59 Uncertain significance
Full BHMT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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.
- BHMT2 p.Ala126Gly Uncertain significance Single submitter
- BHMT2 p.Ala244Val Uncertain significance Single submitter
- BHMT2 p.Arg209His Uncertain significance Single submitter
- BHMT2 p.Arg265Ile Uncertain significance Single submitter
- BHMT2 p.Arg269Thr Uncertain significance Single submitter
- BHMT2 p.Asn281Ser Uncertain significance Single submitter
- BHMT2 p.Asp183His Uncertain significance Single submitter
- BHMT2 p.Cys95Phe Uncertain significance Single submitter
- BHMT2 p.Glu341Asp Uncertain significance Single submitter
- BHMT2 p.Glu80Lys Uncertain significance Single submitter
- BHMT2 p.Gly111Val Uncertain significance Single submitter
- BHMT2 p.Gly112Arg Uncertain significance Single submitter
- BHMT2 p.Gly112Glu Uncertain significance Single submitter
- BHMT2 p.Gly323Glu Uncertain significance Single submitter
- BHMT2 p.Leu262Pro Uncertain significance Single submitter
- BHMT2 p.Leu59Arg Uncertain significance Single submitter
- BHMT2 p.Met222Thr Uncertain significance Single submitter
- BHMT2 p.Phe132Ser Uncertain significance Single submitter
- BHMT2 p.Phe146Ser Uncertain significance Single submitter
- BHMT2 p.Phe63Leu Uncertain significance Single submitter
- BHMT2 p.Pro3Leu Uncertain significance Single submitter
- BHMT2 p.Ser357Leu Uncertain significance Single submitter
- BHMT2 p.Thr116Lys Uncertain significance Single submitter
- BHMT2 p.Thr218Met Uncertain significance Single submitter
- BHMT2 p.Thr73Ala Uncertain significance Single submitter
- BHMT2 p.Tyr151His Uncertain significance Single submitter
- BHMT2 p.Val90Ile Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- BHMT2 p.Ala66Val Benign Multiple submitters
- BHMT2 p.Ala233Val Uncertain significance Single submitter
- BHMT2 p.Ala279Thr Uncertain significance Single submitter
- BHMT2 p.Ala98Thr Uncertain significance Single submitter
- BHMT2 p.Arg16Cys Uncertain significance Single submitter
- BHMT2 p.Arg16His Uncertain significance Single submitter
- BHMT2 p.Arg277Lys Uncertain significance Single submitter
- BHMT2 p.Arg57Cys Uncertain significance Single submitter
- BHMT2 p.Asp169Gly Likely benign Single submitter
- BHMT2 p.Asp89Asn Uncertain significance Single submitter
- BHMT2 p.Glu18Lys Uncertain significance Single submitter
- BHMT2 p.Gly190Arg Uncertain significance Single submitter
- BHMT2 p.Gly225Ser Uncertain significance Single submitter
- BHMT2 p.Gly42Arg Uncertain significance Single submitter
- BHMT2 p.His52Tyr Uncertain significance Single submitter
- BHMT2 p.Ile13Met Uncertain significance Single submitter
- BHMT2 p.Ile24Thr Uncertain significance Single submitter
- BHMT2 p.Ile50Thr Uncertain significance Single submitter
- BHMT2 p.Leu255His Uncertain significance Single submitter
- BHMT2 p.Lys123Asn Uncertain significance Single submitter
- BHMT2 p.Met176Thr Uncertain significance Single submitter
- BHMT2 p.Met176Val Uncertain significance Single submitter
- BHMT2 p.Pro256Leu Uncertain significance Single submitter
- BHMT2 p.Pro314Leu Uncertain significance Single submitter
- BHMT2 p.Pro353Thr Uncertain significance Single submitter
- BHMT2 p.Pro7Leu Uncertain significance Single submitter
- BHMT2 p.Tyr119Cys Uncertain significance Single submitter
- BHMT2 p.Tyr121Cys Uncertain significance Single submitter
- BHMT2 p.Tyr280Cys Uncertain significance Single submitter
- BHMT2 p.Tyr342His Uncertain significance Single submitter
- BHMT2 p.Val155Asp Uncertain significance Single submitter
- BHMT2 p.Val159Ala Uncertain significance Single submitter
- BHMT2 p.Val204Ile Uncertain significance Single submitter
- BHMT2 p.Val206Met Uncertain significance Single submitter
All BHMT2 variants
Benign 1
- p.Ala66Val Multiple submitters ⚠
Likely benign 2
- p.Asp169Gly Single submitter ⚠
- p.Gln58= Single submitter
Uncertain significance 59
- p.Ala126Gly Single submitter ⚠
- p.Ala233Val Single submitter ⚠
- p.Ala244Val Single submitter ⚠
- p.Ala279Thr Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Arg16Cys Single submitter ⚠
- p.Arg16His Single submitter ⚠
- p.Arg209His Single submitter ⚠
- p.Arg265Ile Single submitter ⚠
- p.Arg269Thr Single submitter ⚠
- p.Arg277Lys Single submitter ⚠
- p.Arg57Cys Single submitter ⚠
- p.Asn281Ser Single submitter ⚠
- p.Asp183His Single submitter ⚠
- p.Asp89Asn Single submitter ⚠
- p.Cys95Phe Single submitter ⚠
- p.Glu18Lys Single submitter ⚠
- p.Glu341Asp Single submitter ⚠
- p.Glu80Lys Single submitter ⚠
- p.Gly111Val Single submitter ⚠
- p.Gly112Arg Single submitter ⚠
- p.Gly112Glu Single submitter ⚠
- p.Gly190Arg Single submitter ⚠
- p.Gly225Ser Single submitter ⚠
- p.Gly323Glu Single submitter ⚠
- p.Gly42Arg Single submitter ⚠
- p.His52Tyr Single submitter ⚠
- p.Ile13Met Single submitter ⚠
- p.Ile24Thr Single submitter ⚠
- p.Ile50Thr Single submitter ⚠
- p.Leu255His Single submitter ⚠
- p.Leu262Pro Single submitter ⚠
- p.Leu59Arg Single submitter ⚠
- p.Lys123Asn Single submitter ⚠
- p.Met176Thr Single submitter ⚠
- p.Met176Val Single submitter ⚠
- p.Met222Thr Single submitter ⚠
- p.Phe132Ser Single submitter ⚠
- p.Phe146Ser Single submitter ⚠
- p.Phe63Leu Single submitter ⚠
- p.Pro256Leu Single submitter ⚠
- p.Pro314Leu Single submitter ⚠
- p.Pro353Thr Single submitter ⚠
- p.Pro3Leu Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser357Leu Single submitter ⚠
- p.Thr116Lys Single submitter ⚠
- p.Thr218Met Single submitter ⚠
- p.Thr73Ala Single submitter ⚠
- p.Tyr119Cys Single submitter ⚠
- p.Tyr121Cys Single submitter ⚠
- p.Tyr151His Single submitter ⚠
- p.Tyr280Cys Single submitter ⚠
- p.Tyr342His Single submitter ⚠
- p.Val155Asp Single submitter ⚠
- p.Val159Ala Single submitter ⚠
- p.Val204Ile Single submitter ⚠
- p.Val206Met Single submitter ⚠
- p.Val90Ile Single submitter ⚠