IGFBP4 — 34 ClinVar variants
All ClinVar germline IGFBP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 29 flagged for review →
1 Likely pathogenic · 1 Benign · 2 Likely benign · 30 Uncertain significance
Full IGFBP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 29
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IGFBP4 p.Ala8Val Uncertain significance Single submitter
- IGFBP4 p.Arg167Trp Uncertain significance Single submitter
- IGFBP4 p.Arg184Trp Uncertain significance Single submitter
- IGFBP4 p.Arg39Leu Uncertain significance Single submitter
- IGFBP4 p.Arg49Gln Uncertain significance Single submitter
- IGFBP4 p.Cys131Tyr Uncertain significance Single submitter
- IGFBP4 p.Glu120Lys Uncertain significance Single submitter
- IGFBP4 p.Glu45Gln Uncertain significance Single submitter
- IGFBP4 p.Gly15Arg Uncertain significance Single submitter
- IGFBP4 p.Gly240Ser Uncertain significance Single submitter
- IGFBP4 p.Ile201Thr Uncertain significance Single submitter
- IGFBP4 p.Leu237Phe Uncertain significance Single submitter
- IGFBP4 p.Leu2Val Uncertain significance Single submitter
- IGFBP4 p.Leu4Phe Uncertain significance Single submitter
- IGFBP4 p.Leu63Val Uncertain significance Single submitter
- IGFBP4 p.Lys141Arg Uncertain significance Single submitter
- IGFBP4 p.Lys213Arg Uncertain significance Single submitter
- IGFBP4 p.Lys34Arg Uncertain significance Single submitter
- IGFBP4 p.Pro124Arg Uncertain significance Single submitter
- IGFBP4 p.Pro40Ser Uncertain significance Single submitter
- IGFBP4 p.Pro41Ala Uncertain significance Single submitter
- IGFBP4 p.Pro41Thr Uncertain significance Single submitter
- IGFBP4 p.Ser112Thr Uncertain significance Single submitter
- IGFBP4 p.Ser19Arg Uncertain significance Single submitter
- IGFBP4 p.Val158Asp Uncertain significance Single submitter
- IGFBP4 p.Val42Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All IGFBP4 variants
Likely pathogenic 1
- p.Thr233Met Single submitter Abnormal brain morphology
Benign 1
- p.Asp119= Single submitter
Likely benign 2
- p.Arg167Gln Single submitter
- p.Asn125= Single submitter
Uncertain significance 30
- p.Ala181Val Single submitter ⚠
- p.Ala8Val Single submitter ⚠
- p.Arg167Trp Single submitter ⚠
- p.Arg184Gln Single submitter
- p.Arg184Trp Single submitter ⚠
- p.Arg39Leu Single submitter ⚠
- p.Arg49Gln Single submitter ⚠
- p.Cys131Tyr Single submitter ⚠
- p.Glu120Lys Single submitter ⚠
- p.Glu45Gln Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly240Ser Single submitter ⚠
- p.Gly245Arg Single submitter ⚠
- p.Ile201Thr Single submitter ⚠
- p.Leu237Phe Single submitter ⚠
- p.Leu2Val Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Leu63Val Single submitter ⚠
- p.Lys141Arg Single submitter ⚠
- p.Lys213Arg Single submitter ⚠
- p.Lys34Arg Single submitter ⚠
- p.Met94Ile Single submitter ⚠
- p.Pro124Arg Single submitter ⚠
- p.Pro40Ser Single submitter ⚠
- p.Pro41Ala Single submitter ⚠
- p.Pro41Thr Single submitter ⚠
- p.Ser112Thr Single submitter ⚠
- p.Ser19Arg Single submitter ⚠
- p.Val158Asp Single submitter ⚠
- p.Val42Leu Single submitter ⚠