Sugi Variant

Sugi Variant/SLC30A9

SLC30A9 — 87 ClinVar variants

All ClinVar germline SLC30A9 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 4 Likely pathogenic · 1 Conflicting · 8 Benign · 1 Benign/Likely benign · 12 Likely benign · 58 Uncertain significance

Full SLC30A9 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 52

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 lean, ClinVar uncertain 42

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

Predictors split 10

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

All SLC30A9 variants

Pathogenic 2

  • p.Ala350del Multiple submitters psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • p.Ser48Ter Single submitter psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Pathogenic/Likely pathogenic 1

  • p.Cys30fs Multiple submitters psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Likely pathogenic 4

  • c.840+1G>A Single submitter psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • c.841-1G>A Single submitter psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • p.Ser438Ter Single submitter psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • p.Trp181Ter Single submitter psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Conflicting classifications of pathogenicity 1

  • p.Ser14fs Single submitter psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Benign 8

  • c.274+38C>G Multiple submitters psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • c.527+35A>G Multiple submitters psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • p.Gly122= Multiple submitters psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • p.Met50Val Multiple submitters psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • p.Pro3= Multiple submitters psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • p.Thr97Ala Multiple submitters psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
  • p.Ala28= No assertion criteria SLC30A9-related disorder
  • p.Glu84Asp No assertion criteria SLC30A9-related disorder

Benign/Likely benign 1

Likely benign 12

Uncertain significance 58