LPXN — 53 ClinVar variants
All ClinVar germline LPXN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
4 Likely benign · 49 Uncertain significance
Full LPXN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- LPXN p.Ala111Glu Uncertain significance Single submitter
- LPXN p.Ala246Thr Uncertain significance Single submitter
- LPXN p.Ala98Thr Uncertain significance Single submitter
- LPXN p.Arg110Gly Uncertain significance Single submitter
- LPXN p.Arg13Cys Uncertain significance Single submitter
- LPXN p.Asn52Thr Uncertain significance Single submitter
- LPXN p.Asn65Ser Uncertain significance Single submitter
- LPXN p.Asp31Asn Uncertain significance Single submitter
- LPXN p.Gln104Arg Uncertain significance Single submitter
- LPXN p.Gln228Arg Uncertain significance Single submitter
- LPXN p.Gln334Lys Uncertain significance Single submitter
- LPXN p.Glu102Asp Uncertain significance Single submitter
- LPXN p.Glu136Lys Uncertain significance Single submitter
- LPXN p.Glu318Gly Uncertain significance Single submitter
- LPXN p.Glu45Asp Uncertain significance Single submitter
- LPXN p.Glu95Asp Uncertain significance Single submitter
- LPXN p.Gly161Arg Uncertain significance Single submitter
- LPXN p.Gly161Glu Uncertain significance Single submitter
- LPXN p.Gly195Val Uncertain significance Single submitter
- LPXN p.Gly313Glu Uncertain significance Single submitter
- LPXN p.Leu47Phe Uncertain significance Single submitter
- LPXN p.Lys116Asn Uncertain significance Single submitter
- LPXN p.Lys182Gln Uncertain significance Single submitter
- LPXN p.Lys382Met Uncertain significance Single submitter
- LPXN p.Phe236Leu Uncertain significance Single submitter
- LPXN p.Ser208Tyr Uncertain significance Single submitter
- LPXN p.Ser267Leu Uncertain significance Single submitter
- LPXN p.Ser267Pro Uncertain significance Single submitter
- LPXN p.Ser54Arg Uncertain significance Single submitter
- LPXN p.Thr179Ala Uncertain significance Single submitter
- LPXN p.Tyr62Cys Uncertain significance Single submitter
- LPXN p.Val288Leu Uncertain significance Single submitter
- LPXN p.Val61Met Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- LPXN p.Arg193Gln Uncertain significance Single submitter
- LPXN p.Arg210His Uncertain significance Single submitter
- LPXN p.Arg324Cys Uncertain significance Single submitter
- LPXN p.Arg325Gln Uncertain significance Single submitter
- LPXN p.Arg325Trp Uncertain significance Single submitter
- LPXN p.Asp312Val Uncertain significance Single submitter
- LPXN p.Glu138Lys Uncertain significance Single submitter
- LPXN p.Glu95Val Uncertain significance Single submitter
- LPXN p.Gly186Ala Uncertain significance Single submitter
- LPXN p.Gly241Arg Uncertain significance Single submitter
- LPXN p.Gly306Ser Uncertain significance Single submitter
- LPXN p.Ile218Val Uncertain significance Single submitter
- LPXN p.Leu7Ser Uncertain significance Single submitter
- LPXN p.Met131Val Uncertain significance Single submitter
- LPXN p.Met285Val Uncertain significance Single submitter
- LPXN p.Thr327Met Uncertain significance Single submitter
All LPXN variants
Likely benign 4
- c.743-6C>T Single submitter
- p.Asn201Lys Single submitter
- p.Phe300= Single submitter
- p.Pro200Ser Single submitter
Uncertain significance 49
- p.Ala111Glu Single submitter ⚠
- p.Ala246Thr Single submitter ⚠
- p.Ala98Thr Single submitter ⚠
- p.Arg110Gly Single submitter ⚠
- p.Arg13Cys Single submitter ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg210His Single submitter ⚠
- p.Arg324Cys Single submitter ⚠
- p.Arg325Gln Single submitter ⚠
- p.Arg325Trp Single submitter ⚠
- p.Asn52Thr Single submitter ⚠
- p.Asn65Ser Single submitter ⚠
- p.Asp312Val Single submitter ⚠
- p.Asp31Asn Single submitter ⚠
- p.Gln104Arg Single submitter ⚠
- p.Gln228Arg Single submitter ⚠
- p.Gln334Lys Single submitter ⚠
- p.Glu102Asp Single submitter ⚠
- p.Glu136Lys Single submitter ⚠
- p.Glu138Lys Single submitter ⚠
- p.Glu318Gly Single submitter ⚠
- p.Glu45Asp Single submitter ⚠
- p.Glu95Asp Single submitter ⚠
- p.Glu95Val Single submitter ⚠
- p.Gly161Arg Single submitter ⚠
- p.Gly161Glu Single submitter ⚠
- p.Gly186Ala Single submitter ⚠
- p.Gly195Val Single submitter ⚠
- p.Gly241Arg Single submitter ⚠
- p.Gly306Ser Single submitter ⚠
- p.Gly313Glu Single submitter ⚠
- p.Ile218Val Single submitter ⚠
- p.Leu47Phe Single submitter ⚠
- p.Leu7Ser Single submitter ⚠
- p.Lys116Asn Single submitter ⚠
- p.Lys182Gln Single submitter ⚠
- p.Lys382Met Single submitter ⚠
- p.Met131Val Single submitter ⚠
- p.Met285Val Single submitter ⚠
- p.Phe236Leu Single submitter ⚠
- p.Ser208Tyr Single submitter ⚠
- p.Ser267Leu Single submitter ⚠
- p.Ser267Pro Single submitter ⚠
- p.Ser54Arg Single submitter ⚠
- p.Thr179Ala Single submitter ⚠
- p.Thr327Met Single submitter ⚠
- p.Tyr62Cys Single submitter ⚠
- p.Val288Leu Single submitter ⚠
- p.Val61Met Single submitter ⚠