LOXL2 — 156 ClinVar variants

All ClinVar germline LOXL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 144 flagged for review →

3 Benign · 3 Likely benign · 150 Uncertain significance

Full LOXL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 144

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 110

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

Predictors split 34

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

All LOXL2 variants

Benign 3

p.His127= Multiple submitters
p.Val53Leu Multiple submitters
p.Ala137= Single submitter

Likely benign 3

c.1997-11C>A Single submitter
p.Arg228His Single submitter
p.Gln774Arg Single submitter

Uncertain significance 150

p.Ala110Pro Single submitter ⚠
p.Ala137Glu Single submitter ⚠
p.Ala137Val Single submitter ⚠
p.Ala318Val Single submitter ⚠
p.Ala485Ser Single submitter ⚠
p.Ala49Asp Single submitter ⚠
p.Ala51Thr Single submitter ⚠
p.Ala542Thr Single submitter ⚠
p.Ala554Pro Single submitter ⚠
p.Ala585Thr Single submitter ⚠
p.Ala585Val Single submitter ⚠
p.Ala619Glu Single submitter
p.Ala619Thr Single submitter ⚠
p.Arg187Gln Single submitter ⚠
p.Arg196Cys Single submitter ⚠
p.Arg198Cys Single submitter ⚠
p.Arg228Cys Single submitter ⚠
p.Arg253Gln Single submitter ⚠
p.Arg257Cys Single submitter ⚠
p.Arg257His Single submitter ⚠
p.Arg316Trp Single submitter ⚠
p.Arg338His Single submitter ⚠
p.Arg380Gln Single submitter ⚠
p.Arg3Lys Single submitter ⚠
p.Arg522Cys Single submitter ⚠
p.Arg522His Single submitter ⚠
p.Arg594Cys Single submitter ⚠
p.Arg594His Single submitter ⚠
p.Arg612Gln Single submitter ⚠
p.Arg612Trp Single submitter
p.Arg690His Single submitter ⚠
p.Arg71Leu Single submitter ⚠
p.Arg735Cys Single submitter ⚠
p.Arg735His Single submitter ⚠
p.Arg740Cys Single submitter ⚠
p.Arg740His Single submitter ⚠
p.Arg98Gln Single submitter ⚠
p.Asn131Ser Single submitter ⚠
p.Asn141Ser Single submitter ⚠
p.Asn391Ser Single submitter ⚠
p.Asn52Ser Single submitter ⚠
p.Asn52Thr Single submitter ⚠
p.Asn728Asp Single submitter ⚠
p.Asn745Lys Single submitter ⚠
p.Asp160Asn Single submitter ⚠
p.Asp498Tyr Single submitter ⚠
p.Asp524Val Single submitter ⚠
p.Asp678Asn Single submitter ⚠
p.Asp692Glu Single submitter ⚠
p.Cys231Arg Single submitter ⚠
p.Cys395Arg Single submitter ⚠
p.Cys543Arg Single submitter ⚠
p.Cys543Trp Single submitter ⚠
p.Gln532His Single submitter ⚠
p.Gln558Pro Single submitter ⚠
p.Gln586Leu Single submitter ⚠
p.Gln602Arg Single submitter ⚠
p.Glu239Gln Single submitter ⚠
p.Glu292Lys Single submitter ⚠
p.Glu410Lys Single submitter ⚠
p.Glu417Gln Single submitter ⚠
p.Glu417Lys Single submitter ⚠
p.Glu472Gln Single submitter ⚠
p.Glu515Lys Single submitter ⚠
p.Glu672Val Single submitter ⚠
p.Glu69Lys Single submitter ⚠
p.Gly267Ser Single submitter
p.Gly311Arg Single submitter ⚠
p.Gly331Ser Single submitter ⚠
p.Gly335Arg Single submitter ⚠
p.Gly378Asp Single submitter
p.Gly386Arg Single submitter ⚠
p.Gly439Ser Single submitter ⚠
p.Gly465Arg Single submitter ⚠
p.Gly497Arg Single submitter ⚠
p.Gly525Arg Single submitter ⚠
p.Gly665Arg Single submitter ⚠
p.His389Gln Single submitter ⚠
p.His416Gln Single submitter ⚠
p.His94Leu Single submitter ⚠
p.Ile176Leu Single submitter ⚠
p.Ile272Thr Single submitter ⚠
p.Ile385Met Single submitter ⚠
p.Ile402Val Single submitter ⚠
p.Ile56Phe Single submitter ⚠
p.Ile693Val Single submitter ⚠
p.Ile729Asn Single submitter ⚠
p.Ile741Phe Single submitter ⚠
p.Ile748Thr Single submitter ⚠
p.Leu22fs Single submitter LOXL2-related disorder
p.Leu22Val Single submitter ⚠
p.Leu283Pro Single submitter ⚠
p.Leu767Phe Single submitter ⚠
p.Lys209Asn Single submitter ⚠
p.Lys220Glu Single submitter ⚠
p.Lys400Glu Single submitter ⚠
p.Lys64Asn Single submitter ⚠
p.Met233Ile Single submitter ⚠
p.Met474Thr Single submitter ⚠
p.Met506Ile Single submitter ⚠
p.Met506Thr Single submitter ⚠
p.Met730Ile Single submitter ⚠
p.Met743Ile Single submitter ⚠
p.Phe168Ser Single submitter ⚠
p.Phe760Leu Single submitter ⚠
p.Pro200Thr Single submitter ⚠
p.Pro21Arg Single submitter ⚠
p.Pro260Ser Single submitter ⚠
p.Pro296Leu Single submitter ⚠
p.Pro309Leu Single submitter ⚠
p.Pro312Thr Single submitter ⚠
p.Pro589Leu Single submitter ⚠
p.Pro613Leu Single submitter ⚠
p.Pro704Thr Single submitter ⚠
p.Ser171Leu Single submitter ⚠
p.Ser274Arg Single submitter ⚠
p.Ser313Leu Single submitter ⚠
p.Ser371Asn Single submitter
p.Ser512Leu Single submitter ⚠
p.Ser68Arg Single submitter ⚠
p.Ser753Gly Single submitter ⚠
p.Ser772Cys Single submitter ⚠
p.Thr109Ile Single submitter ⚠
p.Thr129Ile Single submitter ⚠
p.Thr151Met Single submitter ⚠
p.Thr199Ala Single submitter ⚠
p.Thr223Met Single submitter ⚠
p.Thr244Ser Single submitter ⚠
p.Thr349Ile Single submitter ⚠
p.Thr396Ile Single submitter ⚠
p.Thr492Ser Single submitter ⚠
p.Thr514Met Single submitter ⚠
p.Thr587Asn Single submitter ⚠
p.Thr756Met Single submitter ⚠
p.Tyr205Cys Single submitter ⚠
p.Tyr33Phe Single submitter ⚠
p.Val103Met Single submitter ⚠
p.Val154Ile Single submitter ⚠
p.Val281Met Single submitter ⚠
p.Val289Ile Single submitter ⚠
p.Val306Ile Single submitter ⚠
p.Val326Leu Single submitter ⚠
p.Val339Leu Single submitter ⚠
p.Val339Met Single submitter ⚠
p.Val363Ile Single submitter ⚠
p.Val459Leu Single submitter ⚠
p.Val698Ala Single submitter ⚠
p.Val720Ala Single submitter ⚠
p.Val83Met Single submitter ⚠
p.Val95Ile Single submitter ⚠