Sugi Variant

Sugi Variant/JARID2

JARID2 — 388 ClinVar variants

All ClinVar germline JARID2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 243 flagged for review →

15 Pathogenic · 14 Likely pathogenic · 3 Conflicting · 14 Benign · 5 Benign/Likely benign · 87 Likely benign · 250 Uncertain significance

Full JARID2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 243

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 1

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

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 164

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 164

Predictors split 75

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

All JARID2 variants

Pathogenic 15

  • p.Ala396fs Single submitter
  • p.Arg1127Ter Single submitter developmental delay with variable intellectual disability and dysmorphic facies
  • p.Arg425fs Single submitter Inborn genetic diseases
  • p.Arg788Ter Single submitter
  • p.Gln1003fs Single submitter developmental delay with variable intellectual disability and dysmorphic facies
  • p.Gln1098Ter Single submitter Inborn genetic diseases
  • p.Glu845Ter Single submitter Inborn genetic diseases
  • p.Gly900fs Single submitter Inborn genetic diseases
  • p.Pro139fs Single submitter Inborn genetic diseases
  • p.Pro475fs Single submitter developmental delay with variable intellectual disability and dysmorphic facies
  • p.Thr503fs Single submitter Mild intellectual disability
  • p.Thr672fs Single submitter
  • p.Val59fs Single submitter neurodevelopmental disorder
  • p.Val997fs Single submitter developmental delay with variable intellectual disability and dysmorphic facies
  • p.Gln669Ter No assertion criteria developmental delay with variable intellectual disability and dysmorphic facies

Likely pathogenic 14

  • c.1945+1G>A Single submitter developmental delay with variable intellectual disability and dysmorphic facies
  • c.2731+1G>C Single submitter neurodevelopmental disorder
  • c.2731+5G>A Single submitter neurodevelopmental disorder
  • c.324-149_493+2097dup Single submitter developmental delay with variable intellectual disability and dysmorphic facies
  • p.Arg5fs Single submitter autosomal dominant non-syndromic intellectual disability
  • p.Gln537fs Single submitter developmental delay with variable intellectual disability and dysmorphic facies
  • p.Gln691Ter Single submitter
  • p.Glu1073fs Single submitter
  • p.Glu644fs Single submitter developmental delay with variable intellectual disability and dysmorphic facies
  • p.Lys116Asn Single submitter autism ⚠
  • p.Lys472fs Single submitter
  • p.Met1Thr Single submitter
  • p.Ser1004fs Single submitter JARID2-related disorder
  • p.Gln792Ter No assertion criteria developmental delay with variable intellectual disability and dysmorphic facies

Conflicting classifications of pathogenicity 3

Benign 14

Benign/Likely benign 5

Likely benign 87

Uncertain significance 250