FABP2 — 40 ClinVar variants
All ClinVar germline FABP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
20 Benign · 3 Likely benign · 17 Uncertain significance
Full FABP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FABP2 p.Ala33Val Uncertain significance Single submitter
- FABP2 p.Asn36Ser Uncertain significance Single submitter
- FABP2 p.Asn72Tyr Uncertain significance Single submitter
- FABP2 p.Gly81Arg Uncertain significance Single submitter
- FABP2 p.Ile41Phe Uncertain significance Single submitter
- FABP2 p.Thr42Ser Uncertain significance Single submitter
- FABP2 p.Thr68Ile Uncertain significance Single submitter
- FABP2 p.Thr82Ile Uncertain significance Single submitter
- FABP2 p.Val106Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- FABP2 p.Arg11Trp Uncertain significance Single submitter
- FABP2 p.Arg96Trp Uncertain significance Single submitter
- FABP2 p.Gln43Glu Uncertain significance Single submitter
- FABP2 p.Glu102Lys Uncertain significance Single submitter
- FABP2 p.Gly45Glu Uncertain significance Single submitter
- FABP2 p.Ile91Ser Uncertain significance Single submitter
All FABP2 variants
Benign 20
- c.241-34TAT[14] Multiple submitters
- c.68-148G>A Multiple submitters
- c.*15G>A Multiple submitters
- c.*252G>A Multiple submitters
- c.*65A>G Multiple submitters
- p.Asn72= Multiple submitters
- p.Thr55Ala Multiple submitters
- p.Val119= Multiple submitters
- c.240+100G>T Single submitter
- c.240+151G>A Single submitter
- c.240+166A>G Single submitter
- c.240+179T>C Single submitter
- c.241-136A>G Single submitter
- c.241-34TAT[11] Single submitter
- c.241-34TAT[13] Single submitter
- c.241-34TAT[9] Single submitter
- c.67+156C>T Single submitter
- c.67+262C>A Single submitter
- c.68-167T>G Single submitter
- c.68-315G>A Single submitter
Likely benign 3
- p.Asn72Ser Single submitter
- p.Ile26Val Single submitter
- p.Thr49= Single submitter
Uncertain significance 17
- p.Ala33Val Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg96Trp Single submitter ⚠
- p.Asn36Ser Single submitter ⚠
- p.Asn72Tyr Single submitter ⚠
- p.Gln43Glu Single submitter ⚠
- p.Glu102Lys Single submitter ⚠
- p.Gly23Asp Single submitter
- p.Gly45Glu Single submitter ⚠
- p.Gly81Arg Single submitter ⚠
- p.Ile41Phe Single submitter ⚠
- p.Ile91Ser Single submitter ⚠
- p.Thr42Ser Single submitter ⚠
- p.Thr68Ile Single submitter ⚠
- p.Thr82Ile Single submitter ⚠
- p.Val106Ala Single submitter ⚠
- p.Val24Gly Single submitter