LOXL1 — 84 ClinVar variants
All ClinVar germline LOXL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 75 flagged for review →
6 Benign · 3 Likely benign · 75 Uncertain significance
Full LOXL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 75
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 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- LOXL1 p.Ala194Glu Uncertain significance Single submitter
- LOXL1 p.Ala217Thr Uncertain significance Single submitter
- LOXL1 p.Ala467Val Uncertain significance Single submitter
- LOXL1 p.Ala514Val Uncertain significance Single submitter
- LOXL1 p.Ala97Val Uncertain significance Single submitter
- LOXL1 p.Arg105Ser Uncertain significance Single submitter
- LOXL1 p.Arg233Leu Uncertain significance Single submitter
- LOXL1 p.Arg346Gln Uncertain significance Single submitter
- LOXL1 p.Arg38His Uncertain significance Single submitter
- LOXL1 p.Arg394Cys Uncertain significance Single submitter
- LOXL1 p.Arg440Gln Uncertain significance Single submitter
- LOXL1 p.Arg68His Uncertain significance Single submitter
- LOXL1 p.Arg74Pro Uncertain significance Single submitter
- LOXL1 p.Arg87Gly Uncertain significance Single submitter
- LOXL1 p.Asn437Ser Uncertain significance Single submitter
- LOXL1 p.Asn48Ser Uncertain significance Single submitter
- LOXL1 p.Asp304Asn Uncertain significance Single submitter
- LOXL1 p.Asp304His Uncertain significance Single submitter
- LOXL1 p.Gln149Arg Uncertain significance Single submitter
- LOXL1 p.Gln351Pro Uncertain significance Single submitter
- LOXL1 p.Gln386Arg Uncertain significance Single submitter
- LOXL1 p.Gln429Arg Uncertain significance Single submitter
- LOXL1 p.Glu236Asp Uncertain significance Single submitter
- LOXL1 p.Glu241Lys Uncertain significance Single submitter
- LOXL1 p.Glu281Asp Uncertain significance Single submitter
- LOXL1 p.Glu281Lys Uncertain significance Single submitter
- LOXL1 p.Glu296Ala Uncertain significance Single submitter
- LOXL1 p.Glu457Lys Uncertain significance Single submitter
- LOXL1 p.Gly201Asp Uncertain significance Single submitter
- LOXL1 p.Gly250Ser Uncertain significance Single submitter
- LOXL1 p.Gly269Asp Uncertain significance Single submitter
- LOXL1 p.Gly302Ser Uncertain significance Single submitter
- LOXL1 p.Gly31Arg Uncertain significance Single submitter
- LOXL1 p.Gly343Ser Uncertain significance Single submitter
- LOXL1 p.Gly348Ala Uncertain significance Single submitter
- LOXL1 p.Gly348Ser Uncertain significance Single submitter
- LOXL1 p.Gly49Ala Uncertain significance Single submitter
- LOXL1 p.Gly79Asp Uncertain significance Single submitter
- LOXL1 p.Gly90Arg Uncertain significance Single submitter
- LOXL1 p.Ile523Leu Uncertain significance Single submitter
- LOXL1 p.Leu327Pro Uncertain significance Single submitter
- LOXL1 p.Leu354Phe Uncertain significance Single submitter
- LOXL1 p.Pro183Ser Uncertain significance Single submitter
- LOXL1 p.Pro227Ser Uncertain significance Single submitter
- LOXL1 p.Pro230Thr Uncertain significance Single submitter
- LOXL1 p.Pro253Leu Uncertain significance Single submitter
- LOXL1 p.Pro267Arg Uncertain significance Single submitter
- LOXL1 p.Pro330Ser Uncertain significance Single submitter
- LOXL1 p.Pro439Leu Uncertain significance Single submitter
- LOXL1 p.Ser72Arg Uncertain significance Single submitter
- LOXL1 p.Ser91Arg Uncertain significance Single submitter
- LOXL1 p.Thr137Met Uncertain significance Single submitter
- LOXL1 p.Thr339Arg Uncertain significance Single submitter
- LOXL1 p.Thr412Ser Uncertain significance Single submitter
- LOXL1 p.Thr498Pro Uncertain significance Single submitter
- LOXL1 p.Tyr414Phe Uncertain significance Single submitter
- LOXL1 p.Tyr509Cys Uncertain significance Single submitter
- LOXL1 p.Val111Met Uncertain significance Single submitter
- LOXL1 p.Val356Leu Uncertain significance Single submitter
- LOXL1 p.Val537Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- LOXL1 p.Arg143Cys Uncertain significance Single submitter
- LOXL1 p.Arg438Gln Uncertain significance Single submitter
- LOXL1 p.Arg68Cys Uncertain significance Single submitter
- LOXL1 p.Asn513Asp Uncertain significance Single submitter
- LOXL1 p.Gln450Glu Uncertain significance Single submitter
- LOXL1 p.Gln96His Uncertain significance Single submitter
- LOXL1 p.Glu189Lys Uncertain significance Single submitter
- LOXL1 p.Gly366Arg Uncertain significance Single submitter
- LOXL1 p.Phe119Leu Uncertain significance Single submitter
- LOXL1 p.Pro333Arg Uncertain significance Single submitter
- LOXL1 p.Ser221Leu Uncertain significance Single submitter
- LOXL1 p.Ser574Phe Uncertain significance Single submitter
- LOXL1 p.Val359Ala Uncertain significance Single submitter
- LOXL1 p.Val379Met Uncertain significance Single submitter
-
LOXL1 p.Ser161Leu
Benign
No assertion criteria
LOXL1-related disorder
All LOXL1 variants
Benign 6
- p.Thr144= Multiple submitters
- p.Phe489= Single submitter
- p.Asp292= No assertion criteria LOXL1-related disorder
- p.Ser159Ala No assertion criteria LOXL1-related disorder
- p.Ser161Leu No assertion criteria LOXL1-related disorder ⚠
- p.Thr567Ala No assertion criteria LOXL1-related disorder
Likely benign 3
- p.Ala160Pro Single submitter
- p.Thr339Ala Single submitter
- p.Asp109= No assertion criteria LOXL1-related disorder
Uncertain significance 75
- p.Ala194Glu Single submitter ⚠
- p.Ala217Thr Single submitter ⚠
- p.Ala467Val Single submitter ⚠
- p.Ala514Val Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg105Ser Single submitter ⚠
- p.Arg143Cys Single submitter ⚠
- p.Arg233Leu Single submitter ⚠
- p.Arg346Gln Single submitter ⚠
- p.Arg38His Single submitter ⚠
- p.Arg394Cys Single submitter ⚠
- p.Arg438Gln Single submitter ⚠
- p.Arg440Gln Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Arg74Pro Single submitter ⚠
- p.Arg87Gly Single submitter ⚠
- p.Asn437Ser Single submitter ⚠
- p.Asn48Ser Single submitter ⚠
- p.Asn513Asp Single submitter ⚠
- p.Asp304Asn Single submitter ⚠
- p.Asp304His Single submitter ⚠
- p.Asp462Asn Single submitter
- p.Gln149Arg Single submitter ⚠
- p.Gln351Pro Single submitter ⚠
- p.Gln386Arg Single submitter ⚠
- p.Gln429Arg Single submitter ⚠
- p.Gln450Glu Single submitter ⚠
- p.Gln96His Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu236Asp Single submitter ⚠
- p.Glu241Lys Single submitter ⚠
- p.Glu281Asp Single submitter ⚠
- p.Glu281Lys Single submitter ⚠
- p.Glu296Ala Single submitter ⚠
- p.Glu457Lys Single submitter ⚠
- p.Gly201Asp Single submitter ⚠
- p.Gly250Ser Single submitter ⚠
- p.Gly269Asp Single submitter ⚠
- p.Gly302Ser Single submitter ⚠
- p.Gly31Arg Single submitter ⚠
- p.Gly343Ser Single submitter ⚠
- p.Gly348Ala Single submitter ⚠
- p.Gly348Ser Single submitter ⚠
- p.Gly366Arg Single submitter ⚠
- p.Gly49Ala Single submitter ⚠
- p.Gly79Asp Single submitter ⚠
- p.Gly90Arg Single submitter ⚠
- p.Ile523Leu Single submitter ⚠
- p.Leu327Pro Single submitter ⚠
- p.Leu354Phe Single submitter ⚠
- p.Phe119Leu Single submitter ⚠
- p.Pro183Ser Single submitter ⚠
- p.Pro227Ser Single submitter ⚠
- p.Pro230Thr Single submitter ⚠
- p.Pro253Leu Single submitter ⚠
- p.Pro267Arg Single submitter ⚠
- p.Pro330Ser Single submitter ⚠
- p.Pro333Arg Single submitter ⚠
- p.Pro439Leu Single submitter ⚠
- p.Ser221Leu Single submitter ⚠
- p.Ser574Phe Single submitter ⚠
- p.Ser72Arg Single submitter ⚠
- p.Ser91Arg Single submitter ⚠
- p.Thr137Met Single submitter ⚠
- p.Thr339Arg Single submitter ⚠
- p.Thr412Ser Single submitter ⚠
- p.Thr498Pro Single submitter ⚠
- p.Tyr414Phe Single submitter ⚠
- p.Tyr509Cys Single submitter ⚠
- p.Val111Met Single submitter ⚠
- p.Val356Leu Single submitter ⚠
- p.Val359Ala Single submitter ⚠
- p.Val379Met Single submitter ⚠
- p.Val537Met Single submitter ⚠