ACOXL — 93 ClinVar variants
All ClinVar germline ACOXL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 79 flagged for review →
6 Likely benign · 87 Uncertain significance
Full ACOXL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 79
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 64
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACOXL p.Ala126Val Uncertain significance Single submitter
- ACOXL p.Ala234Gly Uncertain significance Single submitter
- ACOXL p.Ala249Val Uncertain significance Single submitter
- ACOXL p.Ala257Gly Uncertain significance Single submitter
- ACOXL p.Ala304Val Uncertain significance Single submitter
- ACOXL p.Ala408Val Uncertain significance Single submitter
- ACOXL p.Ala507Val Uncertain significance Single submitter
- ACOXL p.Arg20Cys Uncertain significance Single submitter
- ACOXL p.Arg341His Uncertain significance Single submitter
- ACOXL p.Arg347His Uncertain significance Single submitter
- ACOXL p.Arg418Gln Uncertain significance Single submitter
- ACOXL p.Arg494Gln Uncertain significance Single submitter
- ACOXL p.Arg494Leu Uncertain significance Single submitter
- ACOXL p.Arg95Lys Uncertain significance Single submitter
- ACOXL p.Asn100Lys Uncertain significance Single submitter
- ACOXL p.Asn440His Uncertain significance Single submitter
- ACOXL p.Asp309Gly Uncertain significance Single submitter
- ACOXL p.Asp385Glu Uncertain significance Single submitter
- ACOXL p.Cys157Tyr Uncertain significance Single submitter
- ACOXL p.Cys442Arg Uncertain significance Single submitter
- ACOXL p.Glu369Lys Uncertain significance Single submitter
- ACOXL p.Glu94Lys Uncertain significance Single submitter
- ACOXL p.Gly351Arg Uncertain significance Single submitter
- ACOXL p.Gly374Arg Uncertain significance Single submitter
- ACOXL p.Gly374Asp Uncertain significance Single submitter
- ACOXL p.His156Leu Uncertain significance Single submitter
- ACOXL p.His262Tyr Uncertain significance Single submitter
- ACOXL p.His445Tyr Uncertain significance Single submitter
- ACOXL p.His455Gln Uncertain significance Single submitter
- ACOXL p.Ile148Leu Uncertain significance Single submitter
- ACOXL p.Ile176Thr Uncertain significance Single submitter
- ACOXL p.Ile191Val Uncertain significance Single submitter
- ACOXL p.Ile221Val Uncertain significance Single submitter
- ACOXL p.Ile256Val Uncertain significance Single submitter
- ACOXL p.Leu308Arg Uncertain significance Single submitter
- ACOXL p.Leu324Val Uncertain significance Single submitter
- ACOXL p.Lys270Gln Uncertain significance Single submitter
- ACOXL p.Lys365Gln Uncertain significance Single submitter
- ACOXL p.Met396Thr Uncertain significance Single submitter
- ACOXL p.Met92Val Uncertain significance Single submitter
- ACOXL p.Phe228Leu Uncertain significance Single submitter
- ACOXL p.Pro470Ser Uncertain significance Single submitter
- ACOXL p.Ser219Thr Uncertain significance Single submitter
- ACOXL p.Ser321Asn Uncertain significance Single submitter
- ACOXL p.Ser382Thr Uncertain significance Single submitter
- ACOXL p.Ser441Leu Uncertain significance Single submitter
- ACOXL p.Ser450Ala Uncertain significance Single submitter
- ACOXL p.Ser70Asn Uncertain significance Single submitter
- ACOXL p.Thr109Ala Uncertain significance Single submitter
- ACOXL p.Thr293Ala Uncertain significance Single submitter
- ACOXL p.Thr350Ala Uncertain significance Single submitter
- ACOXL p.Thr350Ser Uncertain significance Single submitter
- ACOXL p.Thr50Ala Uncertain significance Single submitter
- ACOXL p.Thr5Ala Uncertain significance Single submitter
- ACOXL p.Thr93Asn Uncertain significance Single submitter
- ACOXL p.Trp496Leu Uncertain significance Single submitter
- ACOXL p.Trp77Cys Uncertain significance Single submitter
- ACOXL p.Tyr367Cys Uncertain significance Single submitter
- ACOXL p.Val242Leu Uncertain significance Single submitter
- ACOXL p.Val242Met Uncertain significance Single submitter
- ACOXL p.Val300Ile Uncertain significance Single submitter
- ACOXL p.Val409Glu Uncertain significance Single submitter
- ACOXL p.Val428Ala Uncertain significance Single submitter
- ACOXL p.Val52Glu Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- ACOXL p.Ala452Gly Uncertain significance Single submitter
- ACOXL p.Arg198Gln Uncertain significance Single submitter
- ACOXL p.Arg259Cys Uncertain significance Single submitter
- ACOXL p.Arg286Trp Likely benign Single submitter
- ACOXL p.Arg341Cys Uncertain significance Single submitter
- ACOXL p.Arg412His Uncertain significance Single submitter
- ACOXL p.Asp195Gly Uncertain significance Single submitter
- ACOXL p.Cys157Ser Uncertain significance Single submitter
- ACOXL p.Gln325Pro Uncertain significance Single submitter
- ACOXL p.Gly96Ser Uncertain significance Single submitter
- ACOXL p.His290Gln Uncertain significance Single submitter
- ACOXL p.Ile256Met Uncertain significance Single submitter
- ACOXL p.Pro200Ser Uncertain significance Single submitter
- ACOXL p.Pro289Thr Uncertain significance Single submitter
- ACOXL p.Tyr485Cys Uncertain significance Single submitter
All ACOXL variants
Likely benign 6
- p.Ala403Thr Single submitter
- p.Arg286Trp Single submitter ⚠
- p.Arg322His Single submitter
- p.Arg357Gln Single submitter
- p.Thr509Met Single submitter
- p.Val312Ile Single submitter
Uncertain significance 87
- p.Ala126Val Single submitter ⚠
- p.Ala234Gly Single submitter ⚠
- p.Ala249Val Single submitter ⚠
- p.Ala257Gly Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala408Val Single submitter ⚠
- p.Ala452Gly Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Arg163Trp Single submitter
- p.Arg198Gln Single submitter ⚠
- p.Arg20Cys Single submitter ⚠
- p.Arg259Cys Single submitter ⚠
- p.Arg341Cys Single submitter ⚠
- p.Arg341His Single submitter ⚠
- p.Arg347His Single submitter ⚠
- p.Arg357Trp Single submitter
- p.Arg412His Single submitter ⚠
- p.Arg418Gln Single submitter ⚠
- p.Arg494Gln Single submitter ⚠
- p.Arg494Leu Single submitter ⚠
- p.Arg566Trp Single submitter
- p.Arg95Lys Single submitter ⚠
- p.Asn100Lys Single submitter ⚠
- p.Asn440His Single submitter ⚠
- p.Asp195Gly Single submitter ⚠
- p.Asp309Gly Single submitter ⚠
- p.Asp385Glu Single submitter ⚠
- p.Cys157Ser Single submitter ⚠
- p.Cys157Tyr Single submitter ⚠
- p.Cys442Arg Single submitter ⚠
- p.Gln325Pro Single submitter ⚠
- p.Glu338Asp Single submitter
- p.Glu369Lys Single submitter ⚠
- p.Glu94Lys Single submitter ⚠
- p.Gly351Arg Single submitter ⚠
- p.Gly374Arg Single submitter ⚠
- p.Gly374Asp Single submitter ⚠
- p.Gly546Ala Single submitter
- p.Gly55fs Single submitter
- p.Gly96Ser Single submitter ⚠
- p.His156Leu Single submitter ⚠
- p.His262Tyr Single submitter ⚠
- p.His290Gln Single submitter ⚠
- p.His445Tyr Single submitter ⚠
- p.His455Gln Single submitter ⚠
- p.Ile148Leu Single submitter ⚠
- p.Ile176Thr Single submitter ⚠
- p.Ile191Val Single submitter ⚠
- p.Ile221Val Single submitter ⚠
- p.Ile256Met Single submitter ⚠
- p.Ile256Val Single submitter ⚠
- p.Leu308Arg Single submitter ⚠
- p.Leu324Val Single submitter ⚠
- p.Leu81Phe Single submitter
- p.Lys270Gln Single submitter ⚠
- p.Lys365Gln Single submitter ⚠
- p.Met129Lys Single submitter
- p.Met396Thr Single submitter ⚠
- p.Met92Val Single submitter ⚠
- p.Phe228Leu Single submitter ⚠
- p.Pro200Ser Single submitter ⚠
- p.Pro289Thr Single submitter ⚠
- p.Pro470Ser Single submitter ⚠
- p.Ser219Thr Single submitter ⚠
- p.Ser321Asn Single submitter ⚠
- p.Ser382Thr Single submitter ⚠
- p.Ser441Leu Single submitter ⚠
- p.Ser450Ala Single submitter ⚠
- p.Ser70Asn Single submitter ⚠
- p.Thr109Ala Single submitter ⚠
- p.Thr293Ala Single submitter ⚠
- p.Thr350Ala Single submitter ⚠
- p.Thr350Ser Single submitter ⚠
- p.Thr50Ala Single submitter ⚠
- p.Thr5Ala Single submitter ⚠
- p.Thr93Asn Single submitter ⚠
- p.Trp496Leu Single submitter ⚠
- p.Trp77Cys Single submitter ⚠
- p.Tyr367Cys Single submitter ⚠
- p.Tyr485Cys Single submitter ⚠
- p.Val211Leu Single submitter
- p.Val242Leu Single submitter ⚠
- p.Val242Met Single submitter ⚠
- p.Val300Ile Single submitter ⚠
- p.Val409Glu Single submitter ⚠
- p.Val428Ala Single submitter ⚠
- p.Val52Glu Single submitter ⚠