LOXL4 — 157 ClinVar variants

All ClinVar germline LOXL4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

4 Likely benign · 153 Uncertain significance

Full LOXL4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 111

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 35

The independent predictors disagree with each other — read with care.

All LOXL4 variants

Likely benign 4

p.Arg269Gln Single submitter
p.Arg273Gln Single submitter
p.Arg365Gln Single submitter
p.Gly303Glu Single submitter

Uncertain significance 153

p.Arg154Trp Multiple submitters ⚠
p.Leu161Phe Multiple submitters ⚠
p.Ala148Ser Single submitter ⚠
p.Ala166Ser Single submitter ⚠
p.Ala259Thr Single submitter ⚠
p.Ala424Ser Single submitter ⚠
p.Ala471Val Single submitter ⚠
p.Ala503Thr Single submitter ⚠
p.Ala539Thr Single submitter ⚠
p.Ala657Pro Single submitter ⚠
p.Ala7Pro Single submitter ⚠
p.Arg101Cys Single submitter ⚠
p.Arg101His Single submitter ⚠
p.Arg136His Single submitter ⚠
p.Arg138Cys Single submitter ⚠
p.Arg155Trp Single submitter ⚠
p.Arg160Trp Single submitter ⚠
p.Arg293His Single submitter ⚠
p.Arg301Cys Single submitter ⚠
p.Arg301His Single submitter ⚠
p.Arg314His Single submitter ⚠
p.Arg323Gln Single submitter ⚠
p.Arg323Trp Single submitter ⚠
p.Arg330Cys Single submitter ⚠
p.Arg339Lys Single submitter ⚠
p.Arg33Gln Single submitter ⚠
p.Arg358Pro Single submitter ⚠
p.Arg365Trp Single submitter ⚠
p.Arg385Gln Single submitter ⚠
p.Arg422Cys Single submitter ⚠
p.Arg427Cys Single submitter
p.Arg427His Single submitter ⚠
p.Arg445Cys Single submitter ⚠
p.Arg45Leu Single submitter ⚠
p.Arg464Gln Single submitter ⚠
p.Arg496His Single submitter ⚠
p.Arg551Cys Single submitter ⚠
p.Arg551His Single submitter ⚠
p.Arg579His Single submitter ⚠
p.Arg583Cys Single submitter ⚠
p.Arg583Ser Single submitter ⚠
p.Arg593Trp Single submitter ⚠
p.Arg654Gln Single submitter ⚠
p.Arg675Pro Single submitter ⚠
p.Arg675Trp Single submitter
p.Arg718His Single submitter ⚠
p.Arg725Gln Single submitter ⚠
p.Arg72Cys Single submitter
p.Arg750His Single submitter ⚠
p.Arg752Thr Single submitter ⚠
p.Asn199Lys Single submitter ⚠
p.Asn411Asp Single submitter ⚠
p.Asn590Asp Single submitter ⚠
p.Asn700Thr Single submitter ⚠
p.Asn754Ser Single submitter ⚠
p.Asp225His Single submitter ⚠
p.Asp603Asn Single submitter ⚠
p.Cys390Ser Single submitter ⚠
p.Cys564Arg Single submitter ⚠
p.Cys658Arg Single submitter ⚠
p.Gln248His Single submitter ⚠
p.Gln397His Single submitter ⚠
p.Gln465Glu Single submitter ⚠
p.Gln465His Single submitter ⚠
p.Gln587Lys Single submitter ⚠
p.Gln664Arg Single submitter ⚠
p.Gln747His Single submitter ⚠
p.Glu106Asp Single submitter ⚠
p.Glu176Lys Single submitter ⚠
p.Glu321Gln Single submitter ⚠
p.Glu321Lys Single submitter
p.Glu430Lys Single submitter ⚠
p.Glu458Lys Single submitter ⚠
p.Glu561Lys Single submitter ⚠
p.Glu644Lys Single submitter ⚠
p.Glu742Gln Single submitter ⚠
p.Glu77Lys Single submitter ⚠
p.Gly316Arg Single submitter ⚠
p.Gly355Ser Single submitter ⚠
p.Gly382Glu Single submitter ⚠
p.Gly382Val Single submitter ⚠
p.Gly467Asp Single submitter ⚠
p.Gly467Ser Single submitter ⚠
p.Gly494Arg Single submitter ⚠
p.Gly494Glu Single submitter ⚠
p.Gly511Arg Single submitter ⚠
p.Gly518Arg Single submitter ⚠
p.Gly518Ser Single submitter ⚠
p.Gly520Arg Single submitter ⚠
p.Gly55Val Single submitter ⚠
p.Gly577Arg Single submitter ⚠
p.Gly665Glu Single submitter ⚠
p.Gly689Ala Single submitter ⚠
p.Gly691Arg Single submitter ⚠
p.Gly734Ala Single submitter ⚠
p.Gly89Ser Single submitter ⚠
p.His247Tyr Single submitter ⚠
p.His402Arg Single submitter ⚠
p.His402Pro Single submitter ⚠
p.His560Tyr Single submitter ⚠
p.His729Arg Single submitter ⚠
p.Ile246Thr Single submitter ⚠
p.Ile343Val Single submitter ⚠
p.Ile472Leu Single submitter ⚠
p.Ile588Thr Single submitter ⚠
p.Ile95Met Single submitter ⚠
p.Leu466Phe Single submitter ⚠
p.Leu548Trp Single submitter ⚠
p.Leu591Pro Single submitter ⚠
p.Lys182Thr Single submitter ⚠
p.Lys232Asn Single submitter ⚠
p.Met197Leu Single submitter ⚠
p.Met537Val Single submitter ⚠
p.Met572Thr Single submitter ⚠
p.Met714Thr Single submitter ⚠
p.Phe362Ser Single submitter ⚠
p.Pro214Leu Single submitter ⚠
p.Pro290Leu Single submitter ⚠
p.Pro295Leu Single submitter ⚠
p.Pro295Ser Single submitter ⚠
p.Pro391Ser Single submitter ⚠
p.Pro512Leu Single submitter ⚠
p.Pro575Ser Single submitter ⚠
p.Pro649Leu Single submitter ⚠
p.Pro94Leu Single submitter ⚠
p.Ser107Cys Single submitter ⚠
p.Ser146Cys Single submitter ⚠
p.Ser211Arg Single submitter ⚠
p.Ser448Arg Single submitter ⚠
p.Ser482Leu Single submitter ⚠
p.Ser482Trp Single submitter ⚠
p.Ser85Gly Single submitter ⚠
p.Thr239Met Single submitter ⚠
p.Thr334Met Single submitter
p.Thr646Pro Single submitter
p.Thr686Ala Single submitter ⚠
p.Thr68Ala Single submitter ⚠
p.Thr81Ile Single submitter ⚠
p.Trp117Ser Single submitter ⚠
p.Trp245Ser Single submitter ⚠
p.Trp574Cys Single submitter ⚠
p.Tyr547Cys Single submitter ⚠
p.Tyr557His Single submitter ⚠
p.Tyr576Ser Single submitter ⚠
p.Tyr693Asn Single submitter ⚠
p.Tyr693Phe Single submitter ⚠
p.Tyr721His Single submitter ⚠
p.Val128Ala Single submitter ⚠
p.Val179Met Single submitter ⚠
p.Val324Ala Single submitter ⚠
p.Val324Met Single submitter
p.Val335Ile Single submitter ⚠
p.Val688Met Single submitter ⚠