PAFAH1B2 — 16 ClinVar variants
All ClinVar germline PAFAH1B2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
1 Benign/Likely benign · 2 Likely benign · 13 Uncertain significance
Full PAFAH1B2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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.
- PAFAH1B2 p.Asn169Ser Uncertain significance Single submitter
- PAFAH1B2 p.Gln55Leu Uncertain significance Single submitter
- PAFAH1B2 p.Gly177Arg Uncertain significance Single submitter
- PAFAH1B2 p.Gly177Glu Uncertain significance Single submitter
- PAFAH1B2 p.Met25Val Uncertain significance Single submitter
- PAFAH1B2 p.Pro8Leu Uncertain significance Single submitter
- PAFAH1B2 p.Ser182Leu Uncertain significance Single submitter
- PAFAH1B2 p.Tyr202Cys Uncertain significance Single submitter
- PAFAH1B2 p.Val32Leu Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PAFAH1B2 variants
Benign/Likely benign 1
- p.Pro12= Multiple submitters
Likely benign 2
- c.412-4214C>T Single submitter
- p.Phe44= Single submitter
Uncertain significance 13
- p.Asn169Ser Single submitter ⚠
- p.Gln55Leu Single submitter ⚠
- p.Glu119Lys Single submitter ⚠
- p.Gly177Arg Single submitter ⚠
- p.Gly177Glu Single submitter ⚠
- p.Ile125Thr Single submitter ⚠
- p.Met25Val Single submitter ⚠
- p.Pro165Leu Single submitter ⚠
- p.Pro166Arg Single submitter
- p.Pro8Leu Single submitter ⚠
- p.Ser182Leu Single submitter ⚠
- p.Tyr202Cys Single submitter ⚠
- p.Val32Leu Single submitter ⚠