Sugi Variant

Sugi Variant/SLC39A14

SLC39A14 — 270 ClinVar variants

All ClinVar germline SLC39A14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

9 Pathogenic · 5 Likely pathogenic · 5 Conflicting · 37 Benign · 7 Benign/Likely benign · 111 Likely benign · 96 Uncertain significance

Full SLC39A14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 2

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

Predictors lean, ClinVar uncertain 72

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

Predictors split 6

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

All SLC39A14 variants

Pathogenic 9

  • p.Gln60Ter Single submitter
  • p.Val174fs Single submitter hypermanganesemia with dystonia 2
  • p.Asn469Lys No assertion criteria hypermanganesemia with dystonia 2
  • p.Glu105Ter No assertion criteria hypermanganesemia with dystonia 2
  • p.Gly383Arg No assertion criteria hypermanganesemia with dystonia 2
  • p.Leu441Arg No assertion criteria hyperostosis cranialis interna
  • p.Phe98Val No assertion criteria hypermanganesemia with dystonia 2 ⚠
  • p.Pro446Ser No assertion criteria hypermanganesemia with dystonia 2
  • p.Ser160fs No assertion criteria hypermanganesemia with dystonia 2

Likely pathogenic 5

  • c.751-9C>G Multiple submitters hyperostosis cranialis interna
  • c.628-2A>G Single submitter hypermanganesemia with dystonia 2
  • p.Asp46Gly Single submitter hypermanganesemia with dystonia 2 ⚠
  • p.Trp324Ter Single submitter hypermanganesemia with dystonia 2
  • p.Tyr51Cys Single submitter hypermanganesemia with dystonia 2

Conflicting classifications of pathogenicity 5

Benign 37

Benign/Likely benign 7

Likely benign 111

Uncertain significance 96