Sugi Variant

Sugi Variant/CHD3

CHD3 — 810 ClinVar variants

All ClinVar germline CHD3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 484 flagged for review →

36 Pathogenic · 12 Pathogenic/Likely pathogenic · 75 Likely pathogenic · 31 Conflicting · 18 Benign · 5 Benign/Likely benign · 121 Likely benign · 512 Uncertain significance

Full CHD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 484

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 3

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

Predictors agree, ClinVar conflicts 20

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

Predicted LoF vs a conflicting call 3

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 294

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 294

Predictors split 164

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 164

All CHD3 variants

Pathogenic 36

Pathogenic/Likely pathogenic 12

  • p.Arg1078Gln Multiple submitters Inborn genetic diseases
  • p.Arg1121Pro Multiple submitters Snijders Blok-Campeau syndrome
  • p.Arg1169Gln Multiple submitters Snijders Blok-Campeau syndrome
  • p.Arg1169Pro Multiple submitters Snijders Blok-Campeau syndrome
  • p.Arg1172Gln Multiple submitters Snijders Blok-Campeau syndrome
  • p.Arg1172Trp Multiple submitters Snijders Blok-Campeau syndrome
  • p.Arg1187Gly Multiple submitters
  • p.Arg1342Gln Multiple submitters Snijders Blok-Campeau syndrome
  • p.Arg1685Ter Multiple submitters Snijders Blok-Campeau syndrome
  • p.Arg985Trp Multiple submitters Snijders Blok-Campeau syndrome
  • p.Asn1159Lys Multiple submitters Snijders Blok-Campeau syndrome
  • p.His886Asp Multiple submitters Snijders Blok-Campeau syndrome

Likely pathogenic 75

Conflicting classifications of pathogenicity 31

Benign 18

Benign/Likely benign 5

Likely benign 121

Uncertain significance 512

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