Sugi Variant

Sugi Variant/CIT

CIT — 729 ClinVar variants

All ClinVar germline CIT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 298 flagged for review →

16 Pathogenic · 8 Likely pathogenic · 16 Conflicting · 122 Benign · 20 Benign/Likely benign · 243 Likely benign · 304 Uncertain significance

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

⚑ Evidence disagreements 298

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 9

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

Predictors lean, ClinVar uncertain 167

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 167

Predictors split 122

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

All CIT variants

Pathogenic 16

  • p.Arg1178Ter Multiple submitters Inborn genetic diseases
  • p.Arg220Ter Multiple submitters microcephaly 17, primary, autosomal recessive
  • c.1111+1G>A Single submitter microcephaly 17, primary, autosomal recessive
  • c.957+1G>T Single submitter microcephaly 17, primary, autosomal recessive
  • p.Arg1839Ter Single submitter Inborn genetic diseases
  • p.Asp1541fs Single submitter microcephaly 17, primary, autosomal recessive
  • p.Glu143Ter Single submitter
  • p.Glu204_Leu205insTer Single submitter
  • p.Ser407Ter Single submitter
  • p.Val397fs Single submitter
  • c.753+3A>T No assertion criteria microcephaly 17, primary, autosomal recessive
  • p.Asp230Val No assertion criteria microcephaly 17, primary, autosomal recessive
  • p.Gln138Ter No assertion criteria autosomal recessive primary microcephaly
  • p.Gly106Val No assertion criteria microcephaly 17, primary, autosomal recessive
  • p.Lys126Gln No assertion criteria microcephaly 17, primary, autosomal recessive
  • p.Pro158Arg No assertion criteria autosomal recessive primary microcephaly

Likely pathogenic 8

Conflicting classifications of pathogenicity 16

Benign 122

Benign/Likely benign 20

Likely benign 243

Uncertain significance 304

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