Sugi Variant

Sugi Variant/CNOT1

CNOT1 — 894 ClinVar variants

All ClinVar germline CNOT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 423 flagged for review →

18 Pathogenic · 2 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 11 Conflicting · 104 Benign · 5 Benign/Likely benign · 268 Likely benign · 459 Uncertain significance

Full CNOT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 423

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 5

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

Predictors lean, ClinVar uncertain 256

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 256

Predictors split 161

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 161

All CNOT1 variants

Pathogenic 18

  • p.Arg535Cys Multiple submitters holoprosencephaly 12 with or without pancreatic agenesis
  • c.1343+1G>T Single submitter Nuerodevelopment disorder
  • c.434-2A>G Single submitter Vissers-Bodmer syndrome
  • c.638-1G>A Single submitter
  • p.Ala132fs Single submitter Inborn genetic diseases
  • p.Ala1441Thr Single submitter Neurodevelopmental delay
  • p.Arg49fs Single submitter Vissers-Bodmer syndrome
  • p.Asp1188Tyr Single submitter Neurodevelopmental delay
  • p.Gln1019Ter Single submitter Vissers-Bodmer syndrome
  • p.Gln102Ter Single submitter holoprosencephaly 12 with or without pancreatic agenesis
  • p.Gln125fs Single submitter Vissers-Bodmer syndrome
  • p.Gln1917fs Single submitter Inborn genetic diseases
  • p.Ile149fs Single submitter Vissers-Bodmer syndrome
  • p.Leu255fs Single submitter Vissers-Bodmer syndrome
  • p.Pro945fs Single submitter Inborn genetic diseases
  • p.Trp2320Ter Single submitter Vissers-Bodmer syndrome
  • p.Arg900Cys No assertion criteria Vissers-Bodmer syndrome
  • p.Gln33Ter No assertion criteria Vissers-Bodmer syndrome

Pathogenic/Likely pathogenic 2

  • c.4800+1G>A Multiple submitters Vissers-Bodmer syndrome
  • p.Arg26Ter Multiple submitters Vissers-Bodmer syndrome

Likely pathogenic 27

Conflicting classifications of pathogenicity 11

Benign 104

Benign/Likely benign 5

Likely benign 268

Uncertain significance 459

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