Sugi Variant

Sugi Variant/SLC9A1

SLC9A1 — 246 ClinVar variants

All ClinVar germline SLC9A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

3 Pathogenic · 2 Likely pathogenic · 4 Conflicting · 9 Benign · 8 Benign/Likely benign · 96 Likely benign · 124 Uncertain significance

Full SLC9A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 111

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 91

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

Predictors split 19

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

All SLC9A1 variants

Pathogenic 3

Likely pathogenic 2

  • p.Gly305Arg Single submitter Lichtenstein-Knorr syndrome
  • p.Gly352fs Single submitter Lichtenstein-Knorr syndrome

Conflicting classifications of pathogenicity 4

Benign 9

Benign/Likely benign 8

Likely benign 96

Uncertain significance 124