OXA1L — 95 ClinVar variants
All ClinVar germline OXA1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
2 Pathogenic · 2 Benign · 13 Likely benign · 78 Uncertain significance
Full OXA1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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OXA1L p.Cys147Phe
Pathogenic
No assertion criteria
mitochondrial disease
Predictors lean, ClinVar uncertain 54
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OXA1L p.Ala143Thr Uncertain significance Single submitter
- OXA1L p.Ala151Val Uncertain significance Single submitter
- OXA1L p.Ala166Thr Uncertain significance Single submitter
- OXA1L p.Ala186Ser Uncertain significance Single submitter
- OXA1L p.Ala233Gly Uncertain significance Single submitter
- OXA1L p.Ala45Asp Uncertain significance Single submitter
- OXA1L p.Arg152Cys Uncertain significance Single submitter
- OXA1L p.Arg182Gln Uncertain significance Single submitter
- OXA1L p.Arg20Gly Uncertain significance Single submitter
- OXA1L p.Arg20Leu Uncertain significance Single submitter
- OXA1L p.Arg20Pro Uncertain significance Single submitter
- OXA1L p.Arg20Ser Uncertain significance Single submitter
- OXA1L p.Arg339Leu Uncertain significance Single submitter
- OXA1L p.Arg358Gln Uncertain significance Single submitter
- OXA1L p.Arg398Gln Uncertain significance Single submitter
- OXA1L p.Arg9Cys Uncertain significance Single submitter
- OXA1L p.Arg9Pro Uncertain significance Single submitter
- OXA1L p.Asn323Ser Uncertain significance Single submitter
- OXA1L p.Cys7Trp Uncertain significance Single submitter
- OXA1L p.Gln17His Uncertain significance Single submitter
- OXA1L p.Gln377Glu Uncertain significance Single submitter
- OXA1L p.Glu93Asp Uncertain significance Single submitter
- OXA1L p.Gly19Ala Uncertain significance Single submitter
- OXA1L p.His52Arg Uncertain significance Single submitter
- OXA1L p.Ile159Val Uncertain significance Single submitter
- OXA1L p.Ile169Val Uncertain significance Single submitter
- OXA1L p.Ile264Met Uncertain significance Single submitter
- OXA1L p.Leu116Pro Uncertain significance Single submitter
- OXA1L p.Leu15Phe Uncertain significance Single submitter
- OXA1L p.Leu267Val Uncertain significance Single submitter
- OXA1L p.Leu362Val Uncertain significance Single submitter
- OXA1L p.Leu40Phe Uncertain significance Single submitter
- OXA1L p.Leu54Pro Uncertain significance Single submitter
- OXA1L p.Lys411Glu Uncertain significance Single submitter
- OXA1L p.Met300Val Uncertain significance Single submitter
- OXA1L p.Met385Thr Uncertain significance Single submitter
- OXA1L p.Met3Val Uncertain significance Single submitter
- OXA1L p.Met6Ile Uncertain significance Single submitter
- OXA1L p.Met6Thr Uncertain significance Single submitter
- OXA1L p.Phe42Val Uncertain significance Single submitter
- OXA1L p.Phe55Ser Uncertain significance Single submitter
- OXA1L p.Pro266Leu Uncertain significance Single submitter
- OXA1L p.Pro61Ser Uncertain significance Single submitter
- OXA1L p.Ser87Leu Uncertain significance Single submitter
- OXA1L p.Thr120Ser Uncertain significance Single submitter
- OXA1L p.Thr161Met Uncertain significance Single submitter
- OXA1L p.Trp141Ser Uncertain significance Single submitter
- OXA1L p.Tyr428His Uncertain significance Single submitter
- OXA1L p.Val258Gly Uncertain significance Single submitter
- OXA1L p.Val25Ile Uncertain significance Single submitter
- OXA1L p.Val269Ala Uncertain significance Single submitter
- OXA1L p.Val82Ala Uncertain significance Single submitter
-
OXA1L p.Ser321Ala
Uncertain significance
No assertion criteria
myoepithelial tumor
-
OXA1L p.Thr340Ala
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 12
The independent predictors disagree with each other — read with care.
- OXA1L p.Ala393Pro Uncertain significance Single submitter
- OXA1L p.Arg334Trp Uncertain significance Single submitter
- OXA1L p.Arg347His Uncertain significance Single submitter
- OXA1L p.Arg376Cys Uncertain significance Single submitter
- OXA1L p.Arg381Cys Uncertain significance Single submitter
- OXA1L p.His350Arg Uncertain significance Single submitter
- OXA1L p.Leu13Pro Uncertain significance Single submitter
- OXA1L p.Leu342Val Uncertain significance Single submitter
- OXA1L p.Ser65Arg Uncertain significance Single submitter
- OXA1L p.Thr148Ala Uncertain significance Single submitter
- OXA1L p.Thr313Met Uncertain significance Single submitter
- OXA1L p.Tyr263Cys Uncertain significance Single submitter
All OXA1L variants
Pathogenic 2
- p.Cys147Phe No assertion criteria mitochondrial disease ⚠
- p.Ser110fs No assertion criteria mitochondrial disease
Benign 2
- p.Leu26= Multiple submitters
- p.Val91Ile Multiple submitters
Likely benign 13
- c.159dupA Single submitter
- p.Ala112Thr Single submitter
- p.Ala54Val Single submitter
- p.Arg376His Single submitter
- p.Gly210Asp Single submitter
- p.Leu32Pro Single submitter
- p.Met317Ile Single submitter
- p.Phe30Leu Single submitter
- p.Pro46Arg Single submitter
- c.225+8G>C No assertion criteria OXA1L-related disorder
- c.*5T>C No assertion criteria OXA1L-related disorder
- p.Pro24= No assertion criteria OXA1L-related disorder
- p.Thr375Met No assertion criteria OXA1L-related disorder
Uncertain significance 78
- c.-14C>T Single submitter
- c.-6G>A Single submitter
- c.-8C>G Single submitter
- p.Ala143Thr Single submitter ⚠
- p.Ala151Val Single submitter ⚠
- p.Ala166Thr Single submitter ⚠
- p.Ala186Ser Single submitter ⚠
- p.Ala233Gly Single submitter ⚠
- p.Ala314Thr Single submitter
- p.Ala314Val Single submitter
- p.Ala393Pro Single submitter ⚠
- p.Ala45Asp Single submitter ⚠
- p.Arg152Cys Single submitter ⚠
- p.Arg182Gln Single submitter ⚠
- p.Arg20Gly Single submitter ⚠
- p.Arg20Leu Single submitter ⚠
- p.Arg20Pro Single submitter ⚠
- p.Arg20Ser Single submitter ⚠
- p.Arg334Trp Single submitter ⚠
- p.Arg339Cys Single submitter
- p.Arg339His Single submitter
- p.Arg339Leu Single submitter ⚠
- p.Arg347His Single submitter ⚠
- p.Arg358Gln Single submitter ⚠
- p.Arg376Cys Single submitter ⚠
- p.Arg381Cys Single submitter ⚠
- p.Arg398Gln Single submitter ⚠
- p.Arg9Cys Single submitter ⚠
- p.Arg9Pro Single submitter ⚠
- p.Asn323Ser Single submitter ⚠
- p.Asp191Gly Single submitter
- p.Cys7Trp Single submitter ⚠
- p.Gln17His Single submitter ⚠
- p.Gln377Glu Single submitter ⚠
- p.Glu93Asp Single submitter ⚠
- p.Gly19Ala Single submitter ⚠
- p.Gly210Val Single submitter
- p.His350Arg Single submitter ⚠
- p.His52Arg Single submitter ⚠
- p.Ile159Val Single submitter ⚠
- p.Ile169Val Single submitter ⚠
- p.Ile264Met Single submitter ⚠
- p.Leu116Pro Single submitter ⚠
- p.Leu13Pro Single submitter ⚠
- p.Leu15Phe Single submitter ⚠
- p.Leu267Val Single submitter ⚠
- p.Leu342Val Single submitter ⚠
- p.Leu362Val Single submitter ⚠
- p.Leu40Phe Single submitter ⚠
- p.Leu54Pro Single submitter ⚠
- p.Lys411Glu Single submitter ⚠
- p.Met300Val Single submitter ⚠
- p.Met385Thr Single submitter ⚠
- p.Met3Val Single submitter ⚠
- p.Met6Ile Single submitter ⚠
- p.Met6Thr Single submitter ⚠
- p.Phe42Val Single submitter ⚠
- p.Phe55Ser Single submitter ⚠
- p.Pro266Leu Single submitter ⚠
- p.Pro405Arg Single submitter
- p.Pro56Ser Single submitter
- p.Pro61Ser Single submitter ⚠
- p.Ser65Arg Single submitter ⚠
- p.Ser87Leu Single submitter ⚠
- p.Thr120Ser Single submitter ⚠
- p.Thr148Ala Single submitter ⚠
- p.Thr161Met Single submitter ⚠
- p.Thr313Met Single submitter ⚠
- p.Trp141Ser Single submitter ⚠
- p.Tyr263Cys Single submitter ⚠
- p.Tyr428His Single submitter ⚠
- p.Val160Met Single submitter
- p.Val258Gly Single submitter ⚠
- p.Val25Ile Single submitter ⚠
- p.Val269Ala Single submitter ⚠
- p.Val82Ala Single submitter ⚠
- p.Ser321Ala No assertion criteria myoepithelial tumor ⚠
- p.Thr340Ala No assertion criteria prostate cancer ⚠