Sugi Variant

Sugi Variant/SLC30A10

SLC30A10 — 300 ClinVar variants

All ClinVar germline SLC30A10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →

6 Pathogenic · 5 Likely pathogenic · 9 Conflicting · 32 Benign · 6 Benign/Likely benign · 96 Likely benign · 146 Uncertain significance

Full SLC30A10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 122

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 4

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

Predictors lean, ClinVar uncertain 108

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 SLC30A10 variants

Pathogenic 6

  • p.Thr196fs Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Tyr74Ter Single submitter
  • p.Ala105_Pro107del No assertion criteria cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Gln412fs No assertion criteria cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Leu89Pro No assertion criteria cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Pro170fs No assertion criteria cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome

Likely pathogenic 5

  • p.Asn211_Val212insTer Single submitter SLC30A10-related disorder
  • p.Gln171Ter Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Gln308Ter Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Ser46fs Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Leu131Arg No assertion criteria cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome

Conflicting classifications of pathogenicity 9

  • c.719-6T>C Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Ala373Glu Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome ⚠
  • p.His336Tyr Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome ⚠
  • p.His431Gln Single submitter ⚠
  • p.Pro416= Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Thr95Ile Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome ⚠
  • p.Tyr263= Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Tyr479= Single submitter
  • p.Val208= Single submitter cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome

Benign 32

Benign/Likely benign 6

  • c.640+10G>A Multiple submitters cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • c.*115C>G Multiple submitters cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Asp449= Multiple submitters
  • p.Gly172= Multiple submitters cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.His424= Multiple submitters cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • p.Lys388= Multiple submitters

Likely benign 96

Uncertain significance 146