Sugi Variant

Sugi Variant/ELP2

ELP2 — 224 ClinVar variants

All ClinVar germline ELP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 150 flagged for review →

4 Pathogenic · 5 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 6 Conflicting · 7 Benign · 4 Benign/Likely benign · 33 Likely benign · 156 Uncertain significance

Full ELP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 150

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 66

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

Predictors split 80

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

All ELP2 variants

Pathogenic 4

  • p.Gln303Ter Single submitter intellectual disability, autosomal recessive 58
  • p.Gln553Ter Single submitter intellectual disability, autosomal recessive 58
  • p.Arg462Leu No assertion criteria intellectual disability, autosomal recessive 58
  • p.Thr555Pro No assertion criteria intellectual disability, autosomal recessive 58

Pathogenic/Likely pathogenic 5

  • p.Arg140Ter Multiple submitters intellectual disability, autosomal recessive 58
  • p.Arg462Gln Multiple submitters intellectual disability, autosomal recessive 58
  • p.Gln192Ter Multiple submitters intellectual disability, autosomal recessive 58
  • p.His206Arg Multiple submitters intellectual disability, autosomal recessive 58
  • p.Leu581fs Multiple submitters Inborn genetic diseases

Likely pathogenic 9

  • p.Cys572fs Multiple submitters
  • p.Arg689Ter Single submitter intellectual disability, autosomal recessive 58
  • p.Arg737Ter Single submitter intellectual disability, autosomal recessive 58
  • p.Asn506fs Single submitter
  • p.Cys487fs Single submitter intellectual disability, autosomal recessive 58
  • p.Cys746fs Single submitter intellectual disability, autosomal recessive 58
  • p.Val695fs Single submitter intellectual disability, autosomal recessive 58
  • p.Arg820fs No assertion criteria Profound intellectual disability
  • p.Thr405Ile No assertion criteria Profound intellectual disability

Conflicting classifications of pathogenicity 6

  • p.Ala799Val Single submitter intellectual disability, autosomal recessive 58 ⚠
  • p.Arg19Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg462Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg60Ter Single submitter intellectual disability, autosomal recessive 58
  • p.Leu98fs Single submitter intellectual disability, autosomal recessive 58
  • p.Ser75Cys Single submitter ⚠

Benign 7

Benign/Likely benign 4

Likely benign 33

Uncertain significance 156