Sugi Variant

Sugi Variant/SLC39A4

SLC39A4 — 970 ClinVar variants

All ClinVar germline SLC39A4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

61 Pathogenic · 13 Pathogenic/Likely pathogenic · 62 Likely pathogenic · 29 Conflicting · 29 Benign · 13 Benign/Likely benign · 552 Likely benign · 211 Uncertain significance

Full SLC39A4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 8

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

Predictors lean, ClinVar uncertain 149

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

Predictors split 34

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

All SLC39A4 variants

Pathogenic 61

Pathogenic/Likely pathogenic 13

  • c.1465_1474+4del Multiple submitters SLC39A4-related disorder
  • c.192+19G>A Multiple submitters SLC39A4-related disorder
  • c.475-2A>G Multiple submitters acrodermatitis enteropathica
  • p.Arg95Cys Multiple submitters SLC39A4-related disorder ⚠
  • p.Gln165Ter Multiple submitters SLC39A4-related disorder
  • p.Glu392fs Multiple submitters acrodermatitis enteropathica
  • p.Gly287_Val288insTer Multiple submitters acrodermatitis enteropathica
  • p.Leu7fs Multiple submitters acrodermatitis enteropathica
  • p.Lys463fs Multiple submitters acrodermatitis enteropathica
  • p.Pro200Leu Multiple submitters SLC39A4-related disorder ⚠
  • p.Trp401fs Multiple submitters acrodermatitis enteropathica
  • p.Trp588Ter Multiple submitters acrodermatitis enteropathica
  • p.Val356fs Multiple submitters acrodermatitis enteropathica

Likely pathogenic 62

Conflicting classifications of pathogenicity 29

  • c.1149+8C>T Single submitter acrodermatitis enteropathica
  • c.1149+9C>T Single submitter acrodermatitis enteropathica
  • c.1150-15G>A Single submitter acrodermatitis enteropathica
  • c.193-8G>C Single submitter acrodermatitis enteropathica
  • c.668-10T>C Single submitter acrodermatitis enteropathica
  • c.804+9C>T Single submitter acrodermatitis enteropathica
  • c.-10G>A Single submitter acrodermatitis enteropathica
  • p.Ala120Val Single submitter Inborn genetic diseases ⚠
  • p.Ala170= Single submitter acrodermatitis enteropathica
  • p.Ala173Val Single submitter Inborn genetic diseases ⚠
  • p.Ala198= Single submitter acrodermatitis enteropathica
  • p.Ala26Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala71= Single submitter acrodermatitis enteropathica
  • p.Ala99Thr Single submitter acrodermatitis enteropathica ⚠
  • p.Arg251Gln Single submitter acrodermatitis enteropathica ⚠
  • p.Arg556fs Single submitter acrodermatitis enteropathica
  • p.Arg95= Single submitter acrodermatitis enteropathica
  • p.Asp375= Single submitter acrodermatitis enteropathica
  • p.Cys57= Single submitter acrodermatitis enteropathica
  • p.Glu216Lys Single submitter acrodermatitis enteropathica ⚠
  • p.Gly46= Single submitter acrodermatitis enteropathica
  • p.His441= Single submitter acrodermatitis enteropathica
  • p.Phe205= Single submitter acrodermatitis enteropathica
  • p.Pro86Leu Single submitter acrodermatitis enteropathica ⚠
  • p.Ser283Leu Single submitter acrodermatitis enteropathica ⚠
  • p.Thr155= Single submitter acrodermatitis enteropathica
  • p.Val101Ile Single submitter Inborn genetic diseases ⚠
  • p.Val581= Single submitter acrodermatitis enteropathica
  • p.Val93Ile Single submitter acrodermatitis enteropathica ⚠

Benign 29

Benign/Likely benign 13

  • c.1627+16G>A Multiple submitters
  • c.805-12G>T Multiple submitters acrodermatitis enteropathica
  • c.976+15C>T Multiple submitters acrodermatitis enteropathica
  • p.Glu168= Multiple submitters acrodermatitis enteropathica
  • p.Glu284Lys Multiple submitters acrodermatitis enteropathica ⚠
  • p.Leu4= Multiple submitters acrodermatitis enteropathica
  • p.Met499Val Multiple submitters acrodermatitis enteropathica
  • p.Pro617= Multiple submitters acrodermatitis enteropathica
  • p.Pro84Leu Multiple submitters acrodermatitis enteropathica
  • p.Ser178Cys Multiple submitters acrodermatitis enteropathica
  • p.Thr381Ala Multiple submitters acrodermatitis enteropathica
  • p.Thr50= Multiple submitters acrodermatitis enteropathica
  • p.Thr568= Multiple submitters acrodermatitis enteropathica

Likely benign 552

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 211