Sugi Variant

Sugi Variant/SLC18A2

SLC18A2 — 247 ClinVar variants

All ClinVar germline SLC18A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →

7 Pathogenic · 2 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 1 Conflicting · 27 Benign · 2 Benign/Likely benign · 104 Likely benign · 99 Uncertain significance

Full SLC18A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 86

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 15

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

All SLC18A2 variants

Pathogenic 7

Pathogenic/Likely pathogenic 2

  • p.Pro387Leu Multiple submitters brain dopamine-serotonin vesicular transport disease
  • p.Pro316Ala No assertion criteria Abnormal dense granules

Likely pathogenic 5

  • c.464+2T>C Single submitter brain dopamine-serotonin vesicular transport disease
  • c.700+2T>G Single submitter brain dopamine-serotonin vesicular transport disease
  • p.Gly299Arg Single submitter Inborn genetic diseases
  • p.Ile395Thr Single submitter brain dopamine-serotonin vesicular transport disease
  • p.Phe238fs Single submitter Abnormal brain morphology

Conflicting classifications of pathogenicity 1

  • p.Pro237His Single submitter brain dopamine-serotonin vesicular transport disease ⚠

Benign 27

Benign/Likely benign 2

Likely benign 104

Uncertain significance 99