Sugi Variant

Sugi Variant/SLC6A5

SLC6A5 — 857 ClinVar variants

All ClinVar germline SLC6A5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 334 flagged for review →

35 Pathogenic · 6 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 24 Conflicting · 65 Benign · 15 Benign/Likely benign · 336 Likely benign · 350 Uncertain significance

Full SLC6A5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 334

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 16

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

Predictors lean, ClinVar uncertain 248

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 248

Predictors split 70

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

All SLC6A5 variants

Pathogenic 35

Pathogenic/Likely pathogenic 6

Likely pathogenic 26

Conflicting classifications of pathogenicity 24

Benign 65

Benign/Likely benign 15

Likely benign 336

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 350

Showing the top 300 by review status; the full set is in the sitemap.