IGF2BP3 — 57 ClinVar variants
All ClinVar germline IGF2BP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
1 Benign · 56 Uncertain significance
Full IGF2BP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IGF2BP3 p.Ala14Asp Uncertain significance Single submitter
- IGF2BP3 p.Ala237Val Uncertain significance Single submitter
- IGF2BP3 p.Ala239Ser Uncertain significance Single submitter
- IGF2BP3 p.Ala392Thr Uncertain significance Single submitter
- IGF2BP3 p.Arg171His Uncertain significance Single submitter
- IGF2BP3 p.Arg199His Uncertain significance Single submitter
- IGF2BP3 p.Asn140Ser Uncertain significance Single submitter
- IGF2BP3 p.Asp307Gly Uncertain significance Single submitter
- IGF2BP3 p.Gln103His Uncertain significance Single submitter
- IGF2BP3 p.Gln226Glu Uncertain significance Single submitter
- IGF2BP3 p.Gln269Glu Uncertain significance Single submitter
- IGF2BP3 p.Gln304Arg Uncertain significance Single submitter
- IGF2BP3 p.Gln534Glu Uncertain significance Single submitter
- IGF2BP3 p.Gln562His Uncertain significance Single submitter
- IGF2BP3 p.Glu341Lys Uncertain significance Single submitter
- IGF2BP3 p.His363Pro Uncertain significance Single submitter
- IGF2BP3 p.Ile68Val Uncertain significance Single submitter
- IGF2BP3 p.Leu100Val Uncertain significance Single submitter
- IGF2BP3 p.Lys213Glu Uncertain significance Single submitter
- IGF2BP3 p.Lys258Arg Uncertain significance Single submitter
- IGF2BP3 p.Pro28Ala Uncertain significance Single submitter
- IGF2BP3 p.Pro395Ser Uncertain significance Single submitter
- IGF2BP3 p.Pro396Leu Uncertain significance Single submitter
- IGF2BP3 p.Pro398Leu Uncertain significance Single submitter
- IGF2BP3 p.Pro447Ala Uncertain significance Single submitter
- IGF2BP3 p.Pro447Ser Uncertain significance Single submitter
- IGF2BP3 p.Pro45Ala Uncertain significance Single submitter
- IGF2BP3 p.Pro45Leu Uncertain significance Single submitter
- IGF2BP3 p.Pro573Ala Uncertain significance Single submitter
- IGF2BP3 p.Ser179Phe Uncertain significance Single submitter
- IGF2BP3 p.Ser248Ala Uncertain significance Single submitter
- IGF2BP3 p.Ser576Ala Uncertain significance Single submitter
- IGF2BP3 p.Thr204Ala Uncertain significance Single submitter
-
IGF2BP3 p.Thr308Ala
Uncertain significance
Single submitter
Primary microcephaly
- IGF2BP3 p.Val106Ala Uncertain significance Single submitter
- IGF2BP3 p.Val188Ile Uncertain significance Single submitter
- IGF2BP3 p.Val202Ile Uncertain significance Single submitter
- IGF2BP3 p.Val522Ile Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- IGF2BP3 p.Arg219Gln Uncertain significance Single submitter
- IGF2BP3 p.Arg233His Uncertain significance Single submitter
- IGF2BP3 p.Arg578Trp Uncertain significance Single submitter
- IGF2BP3 p.Arg81Trp Uncertain significance Single submitter
- IGF2BP3 p.Asn369Asp Uncertain significance Single submitter
- IGF2BP3 p.Asn371Lys Uncertain significance Single submitter
- IGF2BP3 p.Cys44Ser Uncertain significance Single submitter
- IGF2BP3 p.Gln84Glu Uncertain significance Single submitter
- IGF2BP3 p.Glu47Lys Uncertain significance Single submitter
- IGF2BP3 p.Ile154Val Uncertain significance Single submitter
- IGF2BP3 p.Leu279Phe Uncertain significance Single submitter
- IGF2BP3 p.Lys82Gln Uncertain significance Single submitter
- IGF2BP3 p.Phe287Leu Uncertain significance Single submitter
- IGF2BP3 p.Pro90Arg Uncertain significance Single submitter
- IGF2BP3 p.Thr509Met Uncertain significance Single submitter
- IGF2BP3 p.Val121Ala Uncertain significance Single submitter
All IGF2BP3 variants
Benign 1
- c.1204-7C>A Single submitter
Uncertain significance 56
- p.Ala14Asp Single submitter ⚠
- p.Ala237Val Single submitter ⚠
- p.Ala239Ser Single submitter ⚠
- p.Ala392Thr Single submitter ⚠
- p.Arg171His Single submitter ⚠
- p.Arg199His Single submitter ⚠
- p.Arg219Gln Single submitter ⚠
- p.Arg233His Single submitter ⚠
- p.Arg578Trp Single submitter ⚠
- p.Arg81Trp Single submitter ⚠
- p.Asn140Ser Single submitter ⚠
- p.Asn369Asp Single submitter ⚠
- p.Asn371Lys Single submitter ⚠
- p.Asp307Gly Single submitter ⚠
- p.Cys44Ser Single submitter ⚠
- p.Gln103His Single submitter ⚠
- p.Gln226Glu Single submitter ⚠
- p.Gln269Glu Single submitter ⚠
- p.Gln304Arg Single submitter ⚠
- p.Gln534Glu Single submitter ⚠
- p.Gln562His Single submitter ⚠
- p.Gln84Glu Single submitter ⚠
- p.Glu341Lys Single submitter ⚠
- p.Glu47Lys Single submitter ⚠
- p.Gly173Trp Single submitter
- p.His363Pro Single submitter ⚠
- p.Ile154Val Single submitter ⚠
- p.Ile68Val Single submitter ⚠
- p.Leu100Val Single submitter ⚠
- p.Leu279Phe Single submitter ⚠
- p.Lys213Glu Single submitter ⚠
- p.Lys258Arg Single submitter ⚠
- p.Lys82Gln Single submitter ⚠
- p.Phe287Leu Single submitter ⚠
- p.Pro28Ala Single submitter ⚠
- p.Pro28Arg Single submitter
- p.Pro395Ser Single submitter ⚠
- p.Pro396Leu Single submitter ⚠
- p.Pro398Leu Single submitter ⚠
- p.Pro447Ala Single submitter ⚠
- p.Pro447Ser Single submitter ⚠
- p.Pro45Ala Single submitter ⚠
- p.Pro45Leu Single submitter ⚠
- p.Pro573Ala Single submitter ⚠
- p.Pro90Arg Single submitter ⚠
- p.Ser179Phe Single submitter ⚠
- p.Ser248Ala Single submitter ⚠
- p.Ser576Ala Single submitter ⚠
- p.Thr204Ala Single submitter ⚠
- p.Thr308Ala Single submitter Primary microcephaly ⚠
- p.Thr509Met Single submitter ⚠
- p.Val106Ala Single submitter ⚠
- p.Val121Ala Single submitter ⚠
- p.Val188Ile Single submitter ⚠
- p.Val202Ile Single submitter ⚠
- p.Val522Ile Single submitter ⚠