Sugi Variant

Sugi Variant/SLC6A19

SLC6A19 — 568 ClinVar variants

All ClinVar germline SLC6A19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →

10 Pathogenic · 5 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 29 Conflicting · 36 Benign · 16 Benign/Likely benign · 190 Likely benign · 257 Uncertain significance

Full SLC6A19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 241

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 1

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

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 156

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 156

Predictors split 72

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

All SLC6A19 variants

Pathogenic 10

Pathogenic/Likely pathogenic 5

Likely pathogenic 25

Conflicting classifications of pathogenicity 29

Benign 36

Benign/Likely benign 16

Likely benign 190

Uncertain significance 257