Sugi Variant

Sugi Variant/GEMIN4

GEMIN4 — 313 ClinVar variants

All ClinVar germline GEMIN4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 207 flagged for review →

1 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 6 Conflicting · 21 Benign · 3 Benign/Likely benign · 61 Likely benign · 218 Uncertain significance

Full GEMIN4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 207

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 5

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

Predictors lean, ClinVar uncertain 167

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 167

Predictors split 35

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

All GEMIN4 variants

Pathogenic 1

  • p.Pro105Leu No assertion criteria neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities

Pathogenic/Likely pathogenic 1

  • p.Trp818Arg Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities

Likely pathogenic 2

  • p.Asp350fs Single submitter GEMIN4-related disorder
  • p.Phe125fs Single submitter neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities

Conflicting classifications of pathogenicity 6

Benign 21

  • c.10+80C>T Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • p.Ala209= Multiple submitters
  • p.Ala579Gly Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • p.Arg1033Cys Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • p.Arg684Gln Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • p.Arg707Cys Multiple submitters
  • p.Asp255= Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • p.Asp929Asn Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • p.Gln450Glu Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • p.Glu593Val Multiple submitters
  • p.Ile502Val Multiple submitters
  • p.Ile739Thr Multiple submitters neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
  • p.Phe182Leu Multiple submitters ⚠
  • p.Phe433= Multiple submitters
  • p.Phe782Leu Multiple submitters ⚠
  • p.Ser304= Multiple submitters
  • p.Val376Ala Multiple submitters
  • p.Val913Ile Multiple submitters
  • p.Arg235= Single submitter
  • p.His556Arg Single submitter
  • p.Ile1042= No assertion criteria GEMIN4-related disorder

Benign/Likely benign 3

Likely benign 61

Uncertain significance 218