Sugi Variant

Sugi Variant/GEMIN5

GEMIN5 — 355 ClinVar variants

All ClinVar germline GEMIN5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →

11 Pathogenic · 1 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 4 Conflicting · 4 Benign · 4 Benign/Likely benign · 40 Likely benign · 270 Uncertain significance

Full GEMIN5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 255

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 3

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

Predictors lean, ClinVar uncertain 197

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 197

Predictors split 55

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

All GEMIN5 variants

Pathogenic 11

  • p.Arg40fs Single submitter Inborn genetic diseases
  • p.Asp401fs Single submitter
  • p.Lys349Ter Single submitter
  • p.Lys742Ter Single submitter
  • p.Ser1144fs Single submitter Inborn genetic diseases
  • p.His913Arg No assertion criteria neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ⚠
  • p.Leu1119Ser No assertion criteria neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ⚠
  • p.Ser1000Pro No assertion criteria neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Trp94Ter No assertion criteria neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Tyr1286Asn No assertion criteria neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ⚠
  • p.Tyr534Ter No assertion criteria neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

Pathogenic/Likely pathogenic 1

  • p.Val1058fs Multiple submitters neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

Likely pathogenic 21

  • c.167-3_167-2del Multiple submitters neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Arg260Ter Multiple submitters neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Ile988Phe Multiple submitters GEMIN5-related neurodevelopmental disorder
  • p.Leu1367Pro Multiple submitters GEMIN5-related disorder
  • c.1081-2A>G Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • c.1995+1G>A Single submitter
  • c.4263-1G>C Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • c.4359+1G>T Single submitter GEMIN5-related disorder
  • p.Arg679Ter Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Asp1054fs Single submitter GEMIN5-related disorder
  • p.Gln423Ter Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Glu1325fs Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Glu619fs Single submitter
  • p.Gly276del Single submitter
  • p.His923Pro Single submitter GEMIN5-related disorder
  • p.Thr244Ala Single submitter
  • p.Trp1029Arg Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Trp138Ter Single submitter
  • p.Trp311Ter Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Trp961Ter Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Arg252Ter No assertion criteria neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

Conflicting classifications of pathogenicity 4

  • p.Ala798Val Single submitter Inborn genetic diseases ⚠
  • p.Arg1016Cys Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction ⚠
  • p.Pro594Arg Single submitter ⚠
  • p.Tyr1499Ter Single submitter neurodevelopmental disorder with cerebellar atrophy and motor dysfunction

Benign 4

Benign/Likely benign 4

  • p.Ala1065Val Multiple submitters Inborn genetic diseases
  • p.Gln1392= Multiple submitters neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
  • p.Glu1350Lys Multiple submitters Inborn genetic diseases
  • p.Gly29= Multiple submitters

Likely benign 40

Uncertain significance 270