Sugi Variant

Sugi Variant/IKZF1

IKZF1 — 464 ClinVar variants

All ClinVar germline IKZF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →

7 Pathogenic · 21 Likely pathogenic · 21 Conflicting · 15 Benign · 15 Benign/Likely benign · 126 Likely benign · 259 Uncertain significance

Full IKZF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 196

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 12

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

Predicted LoF vs a conflicting call 1

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 160

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 160

Predictors split 22

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

All IKZF1 variants

Pathogenic 7

  • p.Arg83Ter Multiple submitters acute lymphoblastic leukemia
  • p.Asn159Ser Multiple submitters Inherited Immunodeficiency Diseases
  • p.Arg162Gln Single submitter pancytopenia due to IKZF1 mutations ⚠
  • p.Cys182Ter Single submitter pancytopenia due to IKZF1 mutations
  • p.Gln44Ter Single submitter Primary immunodeficiency or monogenic inflammatory bowel disease
  • c.161-8388_589+2308del No assertion criteria pancytopenia due to IKZF1 mutations
  • p.Tyr210Cys No assertion criteria pancytopenia due to IKZF1 mutations

Likely pathogenic 21

Conflicting classifications of pathogenicity 21

Benign 15

Benign/Likely benign 15

Likely benign 126

Uncertain significance 259