IKZF3 — 69 ClinVar variants
All ClinVar germline IKZF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 4 Benign · 1 Benign/Likely benign · 5 Likely benign · 57 Uncertain significance
Full IKZF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IKZF3 p.Ala20Pro Uncertain significance Single submitter
- IKZF3 p.Ala253Thr Uncertain significance Single submitter
- IKZF3 p.Arg103Lys Uncertain significance Single submitter
- IKZF3 p.Arg138Gln Uncertain significance Single submitter
- IKZF3 p.Arg163Gly Uncertain significance Single submitter
- IKZF3 p.Arg163Leu Uncertain significance Single submitter
- IKZF3 p.Arg279His Uncertain significance Single submitter
- IKZF3 p.Arg348Gln Uncertain significance Single submitter
- IKZF3 p.Arg396His Uncertain significance Single submitter
- IKZF3 p.Arg423His Uncertain significance Single submitter
- IKZF3 p.Asn413Ser Uncertain significance Single submitter
- IKZF3 p.Asp232Asn Uncertain significance Single submitter
-
IKZF3 p.Gln157Arg
Uncertain significance
Single submitter
immunodeficiency 84
- IKZF3 p.Gln357Glu Uncertain significance Single submitter
- IKZF3 p.Glu360Lys Uncertain significance Single submitter
- IKZF3 p.Glu420Gln Uncertain significance Single submitter
- IKZF3 p.Glu426Asp Uncertain significance Single submitter
- IKZF3 p.Glu82Lys Uncertain significance Single submitter
- IKZF3 p.Glu92Asp Uncertain significance Single submitter
- IKZF3 p.Gly383Ala Uncertain significance Single submitter
- IKZF3 p.His35Arg Uncertain significance Single submitter
- IKZF3 p.Ile275Thr Uncertain significance Single submitter
- IKZF3 p.Ile53Val Uncertain significance Single submitter
- IKZF3 p.Leu178Ile Uncertain significance Single submitter
- IKZF3 p.Leu359Val Uncertain significance Single submitter
- IKZF3 p.Leu428Phe Uncertain significance Single submitter
- IKZF3 p.Lys221Arg Uncertain significance Single submitter
- IKZF3 p.Lys509Gln Uncertain significance Single submitter
- IKZF3 p.Met304Val Uncertain significance Single submitter
- IKZF3 p.Met341Val Uncertain significance Single submitter
- IKZF3 p.Met406Val Uncertain significance Single submitter
-
IKZF3 p.Met77Leu
Uncertain significance
Single submitter
immunodeficiency 84
- IKZF3 p.Met77Val Uncertain significance Single submitter
- IKZF3 p.Pro327Leu Uncertain significance Single submitter
-
IKZF3 p.Pro328Ser
Uncertain significance
Single submitter
immunodeficiency 84
- IKZF3 p.Pro356Ser Uncertain significance Single submitter
- IKZF3 p.Pro432Ser Uncertain significance Single submitter
- IKZF3 p.Pro76Leu Uncertain significance Single submitter
- IKZF3 p.Ser126Ala Uncertain significance Single submitter
-
IKZF3 p.Ser332Leu
Uncertain significance
Single submitter
immunodeficiency 84
- IKZF3 p.Ser438Ala Uncertain significance Single submitter
- IKZF3 p.Ser496Trp Uncertain significance Single submitter
- IKZF3 p.Thr6Lys Uncertain significance Single submitter
- IKZF3 p.Tyr29Cys Uncertain significance Single submitter
- IKZF3 p.Val106Ile Uncertain significance Single submitter
- IKZF3 p.Val18Met Uncertain significance Single submitter
- IKZF3 p.Val255Ile Uncertain significance Single submitter
- IKZF3 p.Val25Leu Uncertain significance Single submitter
- IKZF3 p.Val371Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- IKZF3 p.Ala311Thr Uncertain significance Single submitter
- IKZF3 p.Arg453Gly Uncertain significance Single submitter
- IKZF3 p.Asp455Val Uncertain significance Single submitter
- IKZF3 p.Ile338Thr Uncertain significance Single submitter
- IKZF3 p.Ile99Asn Uncertain significance Single submitter
- IKZF3 p.Met303Ile Uncertain significance Single submitter
- IKZF3 p.Val335Ala Uncertain significance Single submitter
All IKZF3 variants
Pathogenic 1
- p.Gly159Arg No assertion criteria immunodeficiency 84
Likely pathogenic 1
- p.Met1fs Single submitter immunodeficiency 84
Benign 4
- p.Ser438= Multiple submitters
- c.62-60T>C Single submitter
- c.-40A>G Single submitter
- p.Gly234Ala Single submitter
Benign/Likely benign 1
- p.Ala317= Multiple submitters
Likely benign 5
- p.Ala188= Single submitter
- p.Ala239= Single submitter
- p.Ala24= Single submitter
- p.Ala24Val Single submitter
- p.Ile433Val Single submitter
Uncertain significance 57
- p.Ala20Pro Single submitter ⚠
- p.Ala253Thr Single submitter ⚠
- p.Ala311Thr Single submitter ⚠
- p.Arg103Lys Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg163Gly Single submitter ⚠
- p.Arg163Leu Single submitter ⚠
- p.Arg225Cys Single submitter
- p.Arg279His Single submitter ⚠
- p.Arg348Gln Single submitter ⚠
- p.Arg396His Single submitter ⚠
- p.Arg423His Single submitter ⚠
- p.Arg453Gly Single submitter ⚠
- p.Asn413Ser Single submitter ⚠
- p.Asp232Asn Single submitter ⚠
- p.Asp455Val Single submitter ⚠
- p.Gln157Arg Single submitter immunodeficiency 84 ⚠
- p.Gln357Glu Single submitter ⚠
- p.Glu360Lys Single submitter ⚠
- p.Glu420Gln Single submitter ⚠
- p.Glu426Asp Single submitter ⚠
- p.Glu82Lys Single submitter ⚠
- p.Glu92Asp Single submitter ⚠
- p.Gly383Ala Single submitter ⚠
- p.His35Arg Single submitter ⚠
- p.Ile275Thr Single submitter ⚠
- p.Ile338Thr Single submitter ⚠
- p.Ile53Val Single submitter ⚠
- p.Ile99Asn Single submitter ⚠
- p.Leu178Ile Single submitter ⚠
- p.Leu359Val Single submitter ⚠
- p.Leu428Phe Single submitter ⚠
- p.Lys221Arg Single submitter ⚠
- p.Lys509Gln Single submitter ⚠
- p.Met303Ile Single submitter ⚠
- p.Met304Val Single submitter ⚠
- p.Met341Val Single submitter ⚠
- p.Met406Val Single submitter ⚠
- p.Met77Leu Single submitter immunodeficiency 84 ⚠
- p.Met77Val Single submitter ⚠
- p.Pro327Leu Single submitter ⚠
- p.Pro328Ser Single submitter immunodeficiency 84 ⚠
- p.Pro356Ser Single submitter ⚠
- p.Pro432Ser Single submitter ⚠
- p.Pro76Leu Single submitter ⚠
- p.Ser126Ala Single submitter ⚠
- p.Ser332Leu Single submitter immunodeficiency 84 ⚠
- p.Ser438Ala Single submitter ⚠
- p.Ser496Trp Single submitter ⚠
- p.Thr6Lys Single submitter ⚠
- p.Tyr29Cys Single submitter ⚠
- p.Val106Ile Single submitter ⚠
- p.Val18Met Single submitter ⚠
- p.Val255Ile Single submitter ⚠
- p.Val25Leu Single submitter ⚠
- p.Val335Ala Single submitter ⚠
- p.Val371Met Single submitter ⚠