Sugi Variant

Sugi Variant/CILK1

CILK1 — 267 ClinVar variants

All ClinVar germline CILK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

3 Pathogenic · 3 Likely pathogenic · 8 Conflicting · 18 Benign · 8 Benign/Likely benign · 90 Likely benign · 137 Uncertain significance

Full CILK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 3

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

Predictors lean, ClinVar uncertain 83

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

Predictors split 42

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

All CILK1 variants

Pathogenic 3

  • p.Tyr555fs Single submitter cranioectodermal dysplasia
  • p.Arg272Gln No assertion criteria endocrine-cerebro-osteodysplasia syndrome
  • p.Gly120Cys No assertion criteria endocrine-cerebro-osteodysplasia syndrome

Likely pathogenic 3

  • c.-172-1G>A Single submitter endocrine-cerebro-osteodysplasia syndrome
  • p.Arg272Ter Single submitter epilepsy, juvenile myoclonic, susceptibility to, 10
  • p.Glu80Lys No assertion criteria short rib-polydactyly syndrome

Conflicting classifications of pathogenicity 8

Benign 18

Benign/Likely benign 8

Likely benign 90

Uncertain significance 137