Sugi Variant

Sugi Variant/BCHE

BCHE — 215 ClinVar variants

All ClinVar germline BCHE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

9 Pathogenic · 8 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 15 Conflicting · 3 Benign · 10 Likely benign · 128 Uncertain significance

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

⚑ Evidence disagreements 122

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 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 45

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

Predictors split 67

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

All BCHE variants

Pathogenic 9

Pathogenic/Likely pathogenic 8

  • p.Arg414Cys Multiple submitters butyrylcholinesterase deficiency ⚠
  • p.Arg452Ter Multiple submitters butyrylcholinesterase deficiency
  • p.Asn173_Tyr174insTer Multiple submitters butyrylcholinesterase deficiency
  • p.Asp98Gly Multiple submitters Autosomal recessive BCHE-related disorders ⚠
  • p.Leu335Pro Multiple submitters butyrylcholinesterase deficiency ⚠
  • p.Leu358Ile Multiple submitters butyrylcholinesterase deficiency ⚠
  • p.Thr343fs Multiple submitters butyrylcholinesterase deficiency
  • p.Tyr528Ter Multiple submitters butyrylcholinesterase deficiency

Likely pathogenic 42

  • p.Gly418Val Multiple submitters Autosomal recessive BCHE-related disorders ⚠
  • p.Pro387fs Multiple submitters butyrylcholinesterase deficiency
  • p.Val170Met Multiple submitters butyrylcholinesterase deficiency ⚠
  • c.1517+2T>C Single submitter butyrylcholinesterase deficiency
  • p.Arg166fs Single submitter butyrylcholinesterase deficiency
  • p.Arg70Ter Single submitter butyrylcholinesterase deficiency
  • p.Asp198Glu Single submitter butyrylcholinesterase deficiency
  • p.Gln339Ter Single submitter butyrylcholinesterase deficiency
  • p.Glu118Ter Single submitter
  • p.Lys276delinsAsnTer Single submitter butyrylcholinesterase deficiency
  • p.Phe392Ter Single submitter butyrylcholinesterase deficiency
  • p.Pro313fs Single submitter butyrylcholinesterase deficiency
  • p.Trp499Arg Single submitter butyrylcholinesterase deficiency
  • p.Tyr265fs Single submitter butyrylcholinesterase deficiency
  • c.1517+1G>T No assertion criteria butyrylcholinesterase deficiency
  • c.1684+1G>T No assertion criteria butyrylcholinesterase deficiency
  • c.1685-2A>G No assertion criteria butyrylcholinesterase deficiency
  • p.Ala230fs No assertion criteria butyrylcholinesterase deficiency
  • p.Arg414fs No assertion criteria butyrylcholinesterase deficiency
  • p.Cys428Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Gln147Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Gln204fs No assertion criteria butyrylcholinesterase deficiency
  • p.Gln207Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Gln344Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Gln408Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Gln526Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Gln99Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Glu165fs No assertion criteria butyrylcholinesterase deficiency
  • p.Glu299Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Glu395Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Glu510Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Gly253Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Gly50fs No assertion criteria butyrylcholinesterase deficiency
  • p.Leu358fs No assertion criteria butyrylcholinesterase deficiency
  • p.Leu69fs No assertion criteria butyrylcholinesterase deficiency
  • p.Lys37fs No assertion criteria butyrylcholinesterase deficiency
  • p.Phe223fs No assertion criteria butyrylcholinesterase deficiency
  • p.Thr221fs No assertion criteria butyrylcholinesterase deficiency
  • p.Trp15Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Trp205Ter No assertion criteria butyrylcholinesterase deficiency
  • p.Trp458fs No assertion criteria butyrylcholinesterase deficiency
  • p.Trp499Ter No assertion criteria butyrylcholinesterase deficiency

Conflicting classifications of pathogenicity 15

Benign 3

Likely benign 10

Uncertain significance 128