IKZF2 — 90 ClinVar variants

All ClinVar germline IKZF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →

1 Conflicting · 10 Benign · 1 Benign/Likely benign · 11 Likely benign · 67 Uncertain significance

Full IKZF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 66

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 1

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

IKZF2 p.Gly153Arg Conflicting Single submitter
ICHAD syndrome

Predictors lean, ClinVar uncertain 55

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

Predictors split 10

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

All IKZF2 variants

Conflicting classifications of pathogenicity 1

p.Gly153Arg Single submitter ICHAD syndrome ⚠

Benign 10

p.Glu21= Multiple submitters
c.139+207G>A Single submitter
c.139+27T>G Single submitter
c.140-4A>G Single submitter
c.574+94G>A Single submitter
c.575-10C>A Single submitter
c.712+62_712+69dup Single submitter
c.857-60T>G Single submitter
p.Gln282= Single submitter
p.Val116Ile Single submitter

Benign/Likely benign 1

p.Asn93Ser Multiple submitters

Likely benign 11

p.Pro340= Multiple submitters
p.Ala332= Single submitter
p.Asn35Ser Single submitter
p.Asp181= Single submitter
p.Glu76= Single submitter
p.Ile6Thr Single submitter
p.Lys451= Single submitter
p.Lys472= Single submitter
p.Met227Ile Single submitter
p.Ser78= Single submitter
p.Thr11= Single submitter

Uncertain significance 67

p.Ser209Asn Multiple submitters ⚠
c.575-8C>T Single submitter
p.Arg138Cys Single submitter ⚠
p.Arg363Lys Single submitter ⚠
p.Arg388Lys Single submitter ⚠
p.Arg477Gln Single submitter ⚠
p.Asn220Lys Single submitter ⚠
p.Asn220Ser Single submitter ⚠
p.Asn24Ser Single submitter ⚠
p.Asn254Ser Single submitter ⚠
p.Asn302Ser Single submitter ⚠
p.Asn362Ser Single submitter ⚠
p.Asp318Glu Single submitter ⚠
p.Asp510Gly Single submitter ⚠
p.Asp75Glu Single submitter ⚠
p.Cys145Arg Single submitter ⚠
p.Cys244Phe Single submitter ⚠
p.Gln418Pro Single submitter ⚠
p.Glu102Lys Single submitter ⚠
p.Glu246Asp Single submitter ⚠
p.Glu248Gln Single submitter ⚠
p.Glu331Lys Single submitter ⚠
p.Glu474Lys Single submitter ⚠
p.Gly110Asp Single submitter ⚠
p.His162Pro Single submitter ICHAD syndrome ⚠
p.His298Arg Single submitter ⚠
p.His315Arg Single submitter ⚠
p.His334Arg Single submitter ⚠
p.His339Gln Single submitter ⚠
p.His414Pro Single submitter ⚠
p.His417Gln Single submitter ⚠
p.His74Leu Single submitter ⚠
p.His74Pro Single submitter ⚠
p.His74Tyr Single submitter ⚠
p.Ile10Thr Single submitter ⚠
p.Ile266Val Single submitter ⚠
p.Ile27Thr Single submitter ⚠
p.Ile364Thr Single submitter ⚠
p.Ile384Thr Single submitter ⚠
p.Ile518Val Single submitter ⚠
p.Leu333Pro Single submitter ⚠
p.Leu444Val Single submitter ⚠
p.Lys152Arg Single submitter ⚠
p.Lys459Glu Single submitter ⚠
p.Lys95Glu Single submitter ⚠
p.Met119Ile Single submitter ⚠
p.Met301Lys Single submitter ⚠
p.Met437Leu Single submitter ⚠
p.Phe525Leu Single submitter ⚠
p.Pro108Leu Single submitter ⚠
p.Pro239Arg Single submitter ⚠
p.Pro240Leu Single submitter ⚠
p.Pro259Ser Single submitter ⚠
p.Pro450Arg Single submitter ⚠
p.Ser278Arg Single submitter ⚠
p.Ser314Phe Single submitter ⚠
p.Ser32Arg Single submitter ⚠
p.Ser352Arg Single submitter ⚠
p.Ser508Thr Single submitter ⚠
p.Ser66Thr Single submitter ⚠
p.Ser87Asn Single submitter ⚠
p.Thr11Met Single submitter ⚠
p.Thr45Ala Single submitter ⚠
p.Tyr221His Single submitter ⚠
p.Tyr436fs Single submitter
p.Val350Gly Single submitter ⚠
p.Val90Met Single submitter ⚠