Sugi Variant

Sugi Variant/SLC9A7

SLC9A7 — 229 ClinVar variants

All ClinVar germline SLC9A7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

2 Likely pathogenic · 7 Conflicting · 14 Benign · 2 Benign/Likely benign · 55 Likely benign · 149 Uncertain significance

Full SLC9A7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 7

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

Predictors lean, ClinVar uncertain 92

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

Predictors split 29

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

All SLC9A7 variants

Likely pathogenic 2

  • p.Leu515Phe Multiple submitters intellectual developmental disorder, X-linked 108
  • c.1147+2T>C Single submitter intellectual developmental disorder, X-linked 108

Conflicting classifications of pathogenicity 7

Benign 14

Benign/Likely benign 2

  • p.Lys353= Multiple submitters intellectual developmental disorder, X-linked 108
  • p.Tyr281= Multiple submitters

Likely benign 55

Uncertain significance 149