PON1 — 65 ClinVar variants
All ClinVar germline PON1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
30 Benign · 9 Likely benign · 26 Uncertain significance
Full PON1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PON1 p.Arg160Ser Uncertain significance Single submitter
- PON1 p.Arg18Gly Uncertain significance Single submitter
- PON1 p.Asn309Ser Uncertain significance Single submitter
- PON1 p.Asp221Tyr Uncertain significance Single submitter
- PON1 p.Glu148Lys Uncertain significance Single submitter
- PON1 p.Glu276Lys Uncertain significance Single submitter
- PON1 p.Glu93Lys Uncertain significance Single submitter
- PON1 p.Gly344Cys Uncertain significance Single submitter
- PON1 p.His243Pro Uncertain significance Single submitter
- PON1 p.Ile226Val Uncertain significance Single submitter
- PON1 p.Leu311Val Uncertain significance Single submitter
- PON1 p.Leu7Ile Uncertain significance Single submitter
- PON1 p.Met12Ile Uncertain significance Single submitter
- PON1 p.Met289Lys Uncertain significance Single submitter
- PON1 p.Phe77Ser Uncertain significance Single submitter
- PON1 p.Pro299Leu Uncertain significance Single submitter
- PON1 p.Thr181Lys Uncertain significance Single submitter
- PON1 p.Trp254Arg Uncertain significance Single submitter
- PON1 p.Ala126Thr Uncertain significance No assertion criteria
Predictors split 5
The independent predictors disagree with each other — read with care.
- PON1 p.Ala238Asp Uncertain significance Single submitter
- PON1 p.Asn113Lys Uncertain significance Single submitter
- PON1 p.Thr266Asn Uncertain significance Single submitter
- PON1 p.Tyr185Asn Uncertain significance Single submitter
-
PON1 p.Tyr236Cys
Uncertain significance
Single submitter
amyotrophic lateral sclerosis
All PON1 variants
Benign 30
- c.146-154C>A Multiple submitters
- c.202-121G>A Multiple submitters
- c.371-149C>A Multiple submitters
- c.498-101C>T Multiple submitters
- c.75-264G>A Multiple submitters
- c.75-304C>T Multiple submitters
- c.75-94C>T Multiple submitters
- c.909+130G>A Multiple submitters
- p.Gln192Arg Multiple submitters
- p.Leu55Met Multiple submitters
- c.145+237del Single submitter
- c.201+174C>T Single submitter
- c.201+302G>A Single submitter
- c.497+176C>T Single submitter
- c.497+284del Single submitter
- c.498-174_498-173insTT Single submitter
- c.498-300AC[14] Single submitter
- c.498-300AC[15] Single submitter
- c.498-300AC[16] Single submitter
- c.498-300AC[17] Single submitter
- c.498-300AC[19] Single submitter
- c.699-227T>C Single submitter
- c.781-309dup Single submitter
- c.909+246A>G Single submitter
- c.909+267_909+268dup Single submitter
- c.909+267dup Single submitter
- c.909+83_909+91del Single submitter
- c.910-146GT[2] Single submitter
- p.Ala201= Single submitter
- p.Arg160Gly Single submitter
Likely benign 9
- c.780+8G>A Single submitter
- c.910-7T>C Single submitter
- p.Asn19Asp Single submitter
- p.Leu31Phe Single submitter
- p.Lys70= Single submitter
- p.Met127Arg Single submitter
- p.Val37Ile Single submitter
- p.Leu87= No assertion criteria PON1-related disorder
- p.Ser203= No assertion criteria PON1-related disorder
Uncertain significance 26
- p.Ala238Asp Single submitter ⚠
- p.Arg160Ser Single submitter ⚠
- p.Arg18Gly Single submitter ⚠
- p.Asn113Lys Single submitter ⚠
- p.Asn309Ser Single submitter ⚠
- p.Asp221Tyr Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu276Lys Single submitter ⚠
- p.Glu93Lys Single submitter ⚠
- p.Gly325Ala Single submitter
- p.Gly344Cys Single submitter ⚠
- p.His243Pro Single submitter ⚠
- p.Ile226Val Single submitter ⚠
- p.Leu100Phe Single submitter
- p.Leu311Val Single submitter ⚠
- p.Leu7Ile Single submitter ⚠
- p.Met12Ile Single submitter ⚠
- p.Met289Lys Single submitter ⚠
- p.Phe77Ser Single submitter ⚠
- p.Pro299Leu Single submitter ⚠
- p.Thr181Lys Single submitter ⚠
- p.Thr266Asn Single submitter ⚠
- p.Trp254Arg Single submitter ⚠
- p.Tyr185Asn Single submitter ⚠
- p.Tyr236Cys Single submitter amyotrophic lateral sclerosis ⚠
- p.Ala126Thr No assertion criteria ⚠