SLC22A12 — 331 ClinVar variants

All ClinVar germline SLC22A12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 142 flagged for review →

9 Pathogenic · 4 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 23 Conflicting · 35 Benign · 11 Benign/Likely benign · 65 Likely benign · 175 Uncertain significance

Full SLC22A12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 142

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 3

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

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 91

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

Predictors split 43

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

All SLC22A12 variants

Pathogenic 9

Pathogenic/Likely pathogenic 4

Likely pathogenic 9

Conflicting classifications of pathogenicity 23

Benign 35

Benign/Likely benign 11

Likely benign 65

Uncertain significance 175