PAXBP1 — 107 ClinVar variants
All ClinVar germline PAXBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 98 flagged for review →
1 Benign · 8 Likely benign · 98 Uncertain significance
Full PAXBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 98
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 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PAXBP1 p.Ala104Thr Uncertain significance Single submitter
- PAXBP1 p.Ala471Gly Uncertain significance Single submitter
- PAXBP1 p.Ala50Val Uncertain significance Single submitter
- PAXBP1 p.Ala525Thr Uncertain significance Single submitter
- PAXBP1 p.Ala66Ser Uncertain significance Single submitter
- PAXBP1 p.Ala66Val Uncertain significance Single submitter
- PAXBP1 p.Ala724Glu Uncertain significance Single submitter
- PAXBP1 p.Arg252His Uncertain significance Single submitter
- PAXBP1 p.Arg420Gln Uncertain significance Single submitter
- PAXBP1 p.Arg440Gln Uncertain significance Single submitter
- PAXBP1 p.Arg538His Uncertain significance Single submitter
- PAXBP1 p.Arg606Cys Uncertain significance Single submitter
- PAXBP1 p.Arg645His Uncertain significance Single submitter
- PAXBP1 p.Asn206Asp Uncertain significance Single submitter
- PAXBP1 p.Asn627Ser Uncertain significance Single submitter
- PAXBP1 p.Asn716Ser Uncertain significance Single submitter
- PAXBP1 p.Asn830Ser Uncertain significance Single submitter
- PAXBP1 p.Asp170Glu Uncertain significance Single submitter
- PAXBP1 p.Asp188Asn Uncertain significance Single submitter
- PAXBP1 p.Asp268Asn Uncertain significance Single submitter
- PAXBP1 p.Asp297Asn Uncertain significance Single submitter
- PAXBP1 p.Asp298Glu Uncertain significance Single submitter
- PAXBP1 p.Asp48Asn Uncertain significance Single submitter
- PAXBP1 p.Asp819Gly Uncertain significance Single submitter
- PAXBP1 p.Cys853Ser Uncertain significance Single submitter
- PAXBP1 p.Gln601Glu Uncertain significance Single submitter
- PAXBP1 p.Glu18Gly Uncertain significance Single submitter
- PAXBP1 p.Glu20Gln Uncertain significance Single submitter
- PAXBP1 p.Glu26Ala Uncertain significance Single submitter
- PAXBP1 p.Glu26Asp Uncertain significance Single submitter
- PAXBP1 p.Glu26Lys Uncertain significance Single submitter
- PAXBP1 p.Glu40Lys Uncertain significance Single submitter
- PAXBP1 p.Glu41Ala Uncertain significance Single submitter
- PAXBP1 p.Glu469Asp Uncertain significance Single submitter
- PAXBP1 p.Glu54Asp Uncertain significance Single submitter
- PAXBP1 p.Glu74Lys Uncertain significance Single submitter
- PAXBP1 p.Gly166Glu Uncertain significance Single submitter
- PAXBP1 p.Gly37Asp Uncertain significance Single submitter
- PAXBP1 p.Gly52Ser Uncertain significance Single submitter
- PAXBP1 p.Gly53Glu Uncertain significance Single submitter
- PAXBP1 p.Gly58Arg Uncertain significance Single submitter
- PAXBP1 p.Gly88Arg Uncertain significance Single submitter
- PAXBP1 p.Gly88Trp Uncertain significance Single submitter
- PAXBP1 p.Gly916Glu Uncertain significance Single submitter
- PAXBP1 p.His167Tyr Uncertain significance Single submitter
- PAXBP1 p.His244Tyr Uncertain significance Single submitter
- PAXBP1 p.His473Tyr Uncertain significance Single submitter
- PAXBP1 p.Ile472Met Uncertain significance Single submitter
- PAXBP1 p.Ile595Val Uncertain significance Single submitter
- PAXBP1 p.Ile618Val Uncertain significance Single submitter
- PAXBP1 p.Ile789Val Uncertain significance Single submitter
- PAXBP1 p.Ile846Val Uncertain significance Single submitter
- PAXBP1 p.Leu162Ser Uncertain significance Single submitter
- PAXBP1 p.Leu162Trp Uncertain significance Single submitter
- PAXBP1 p.Leu57Arg Uncertain significance Single submitter
- PAXBP1 p.Leu634Phe Uncertain significance Single submitter
- PAXBP1 p.Leu738Phe Uncertain significance Single submitter
- PAXBP1 p.Leu89Gln Uncertain significance Single submitter
- PAXBP1 p.Lys149Thr Uncertain significance Single submitter
- PAXBP1 p.Lys199Gln Uncertain significance Single submitter
- PAXBP1 p.Lys199Thr Uncertain significance Single submitter
- PAXBP1 p.Lys403Arg Uncertain significance Single submitter
- PAXBP1 p.Lys548Arg Uncertain significance Single submitter
- PAXBP1 p.Lys643Asn Uncertain significance Single submitter
- PAXBP1 p.Lys668Gln Uncertain significance Single submitter
- PAXBP1 p.Lys823Arg Uncertain significance Single submitter
- PAXBP1 p.Met234Val Uncertain significance Single submitter
- PAXBP1 p.Met336Val Uncertain significance Single submitter
- PAXBP1 p.Met402Thr Uncertain significance Single submitter
- PAXBP1 p.Pro102Ala Uncertain significance Single submitter
- PAXBP1 p.Pro102Arg Uncertain significance Single submitter
- PAXBP1 p.Pro34Gln Uncertain significance Single submitter
- PAXBP1 p.Pro36Leu Uncertain significance Single submitter
- PAXBP1 p.Pro91Ser Uncertain significance Single submitter
- PAXBP1 p.Pro95Ser Uncertain significance Single submitter
- PAXBP1 p.Ser55Ala Uncertain significance Single submitter
- PAXBP1 p.Ser62Ala Uncertain significance Single submitter
- PAXBP1 p.Ser903Asn Uncertain significance Single submitter
- PAXBP1 p.Thr358Met Uncertain significance Single submitter
- PAXBP1 p.Tyr593Cys Uncertain significance Single submitter
- PAXBP1 p.Tyr787His Uncertain significance Single submitter
- PAXBP1 p.Val731Ala Uncertain significance Single submitter
- PAXBP1 p.Arg538Cys Uncertain significance No assertion criteria
Predictors split 15
The independent predictors disagree with each other — read with care.
- PAXBP1 p.Arg215Ser Uncertain significance Single submitter
- PAXBP1 p.Arg271Cys Uncertain significance Single submitter
- PAXBP1 p.Arg516Cys Uncertain significance Single submitter
- PAXBP1 p.Arg516His Uncertain significance Single submitter
- PAXBP1 p.Arg854Gly Uncertain significance Single submitter
- PAXBP1 p.Asp221Asn Uncertain significance Single submitter
- PAXBP1 p.Cys621Ser Uncertain significance Single submitter
- PAXBP1 p.Gly294Glu Uncertain significance Single submitter
- PAXBP1 p.Gly438Asp Uncertain significance Single submitter
- PAXBP1 p.Gly547Ser Uncertain significance Single submitter
- PAXBP1 p.His552Asn Uncertain significance Single submitter
- PAXBP1 p.Met507Thr Uncertain significance Single submitter
- PAXBP1 p.Phe514Leu Uncertain significance Single submitter
- PAXBP1 p.Phe773Leu Uncertain significance Single submitter
- PAXBP1 p.Val8Leu Uncertain significance Single submitter
All PAXBP1 variants
Benign 1
- p.Val721= Multiple submitters
Likely benign 8
- c.2268-7dup Single submitter
- p.Ala332Thr Single submitter
- p.Gly582Ser Single submitter
- p.Gly78Cys Single submitter
- p.Pro61Leu Single submitter
- p.Pro91= Single submitter
- p.Ser158Asn Single submitter
- p.Val857= Single submitter
Uncertain significance 98
- p.Ala104Thr Single submitter ⚠
- p.Ala471Gly Single submitter ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala525Thr Single submitter ⚠
- p.Ala66Ser Single submitter ⚠
- p.Ala66Val Single submitter ⚠
- p.Ala724Glu Single submitter ⚠
- p.Arg215Ser Single submitter ⚠
- p.Arg252His Single submitter ⚠
- p.Arg271Cys Single submitter ⚠
- p.Arg420Gln Single submitter ⚠
- p.Arg440Gln Single submitter ⚠
- p.Arg516Cys Single submitter ⚠
- p.Arg516His Single submitter ⚠
- p.Arg538His Single submitter ⚠
- p.Arg606Cys Single submitter ⚠
- p.Arg645His Single submitter ⚠
- p.Arg854Gly Single submitter ⚠
- p.Asn206Asp Single submitter ⚠
- p.Asn627Ser Single submitter ⚠
- p.Asn716Ser Single submitter ⚠
- p.Asn830Ser Single submitter ⚠
- p.Asp170Glu Single submitter ⚠
- p.Asp188Asn Single submitter ⚠
- p.Asp221Asn Single submitter ⚠
- p.Asp268Asn Single submitter ⚠
- p.Asp297Asn Single submitter ⚠
- p.Asp298Glu Single submitter ⚠
- p.Asp48Asn Single submitter ⚠
- p.Asp819Gly Single submitter ⚠
- p.Cys621Ser Single submitter ⚠
- p.Cys853Ser Single submitter ⚠
- p.Gln601Glu Single submitter ⚠
- p.Glu18Gly Single submitter ⚠
- p.Glu20Gln Single submitter ⚠
- p.Glu26Ala Single submitter ⚠
- p.Glu26Asp Single submitter ⚠
- p.Glu26Lys Single submitter ⚠
- p.Glu40Lys Single submitter ⚠
- p.Glu41Ala Single submitter ⚠
- p.Glu469Asp Single submitter ⚠
- p.Glu54Asp Single submitter ⚠
- p.Glu74Lys Single submitter ⚠
- p.Gly166Glu Single submitter ⚠
- p.Gly294Glu Single submitter ⚠
- p.Gly37Asp Single submitter ⚠
- p.Gly438Asp Single submitter ⚠
- p.Gly52Ser Single submitter ⚠
- p.Gly53Glu Single submitter ⚠
- p.Gly547Ser Single submitter ⚠
- p.Gly58Arg Single submitter ⚠
- p.Gly88Arg Single submitter ⚠
- p.Gly88Trp Single submitter ⚠
- p.Gly916Glu Single submitter ⚠
- p.His167Tyr Single submitter ⚠
- p.His244Tyr Single submitter ⚠
- p.His473Tyr Single submitter ⚠
- p.His552Asn Single submitter ⚠
- p.Ile472Met Single submitter ⚠
- p.Ile595Val Single submitter ⚠
- p.Ile618Val Single submitter ⚠
- p.Ile789Val Single submitter ⚠
- p.Ile846Val Single submitter ⚠
- p.Leu162Ser Single submitter ⚠
- p.Leu162Trp Single submitter ⚠
- p.Leu57Arg Single submitter ⚠
- p.Leu634Phe Single submitter ⚠
- p.Leu738Phe Single submitter ⚠
- p.Leu89Gln Single submitter ⚠
- p.Lys149Thr Single submitter ⚠
- p.Lys199Gln Single submitter ⚠
- p.Lys199Thr Single submitter ⚠
- p.Lys403Arg Single submitter ⚠
- p.Lys548Arg Single submitter ⚠
- p.Lys643Asn Single submitter ⚠
- p.Lys668Gln Single submitter ⚠
- p.Lys823Arg Single submitter ⚠
- p.Met234Val Single submitter ⚠
- p.Met336Val Single submitter ⚠
- p.Met402Thr Single submitter ⚠
- p.Met507Thr Single submitter ⚠
- p.Phe514Leu Single submitter ⚠
- p.Phe773Leu Single submitter ⚠
- p.Pro102Ala Single submitter ⚠
- p.Pro102Arg Single submitter ⚠
- p.Pro34Gln Single submitter ⚠
- p.Pro36Leu Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Pro95Ser Single submitter ⚠
- p.Ser55Ala Single submitter ⚠
- p.Ser62Ala Single submitter ⚠
- p.Ser903Asn Single submitter ⚠
- p.Thr358Met Single submitter ⚠
- p.Tyr593Cys Single submitter ⚠
- p.Tyr787His Single submitter ⚠
- p.Val731Ala Single submitter ⚠
- p.Val8Leu Single submitter ⚠
- p.Arg538Cys No assertion criteria ⚠