Sugi Variant

Sugi Variant/SLC34A2

SLC34A2 — 212 ClinVar variants

All ClinVar germline SLC34A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 106 flagged for review →

9 Pathogenic · 10 Likely pathogenic · 1 Conflicting · 15 Benign · 9 Benign/Likely benign · 52 Likely benign · 116 Uncertain significance

Full SLC34A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 106

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 86

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

Predictors split 20

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

All SLC34A2 variants

Pathogenic 9

Likely pathogenic 10

  • p.Val448fs Multiple submitters pulmonary alveolar microlithiasis
  • c.1049-2A>T Single submitter
  • c.113-2A>G Single submitter hereditary breast ovarian cancer syndrome
  • c.379+1G>A Single submitter
  • c.524-1G>C Single submitter pulmonary alveolar microlithiasis
  • c.927+1G>C Single submitter pulmonary alveolar microlithiasis
  • p.Ala215fs Single submitter SLC34A2-related disorder
  • p.Gly106Arg Single submitter pulmonary alveolar microlithiasis
  • p.Leu443fs Single submitter pulmonary alveolar microlithiasis
  • p.Phe537_Phe538insTer Single submitter pulmonary alveolar microlithiasis

Conflicting classifications of pathogenicity 1

  • c.635+5G>A Single submitter pulmonary alveolar microlithiasis

Benign 15

Benign/Likely benign 9

Likely benign 52

Uncertain significance 116