ARL2 — 28 ClinVar variants
All ClinVar germline ARL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 23 flagged for review →
1 Pathogenic · 4 Likely benign · 23 Uncertain significance
Full ARL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 23
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARL2 p.Arg179Cys Uncertain significance Single submitter
- ARL2 p.Arg179His Uncertain significance Single submitter
- ARL2 p.Arg74Gln Uncertain significance Single submitter
- ARL2 p.Arg98His Uncertain significance Single submitter
- ARL2 p.Asp128Glu Uncertain significance Single submitter
- ARL2 p.Asp175Gly Uncertain significance Single submitter
- ARL2 p.Asp85Asn Uncertain significance Single submitter
- ARL2 p.Gly156Ser Uncertain significance Single submitter
- ARL2 p.Lys9Arg Uncertain significance Single submitter
- ARL2 p.Thr30Ala Uncertain significance Single submitter
- ARL2 p.Val160Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- ARL2 p.Arg139His Uncertain significance Single submitter
- ARL2 p.Arg148Cys Uncertain significance Single submitter
- ARL2 p.Arg148His Uncertain significance Single submitter
- ARL2 p.Asp40Asn Uncertain significance Single submitter
- ARL2 p.Asp42Asn Uncertain significance Single submitter
- ARL2 p.Glu140Lys Uncertain significance Single submitter
- ARL2 p.Glu140Val Uncertain significance Single submitter
- ARL2 p.Leu106Ile Uncertain significance Single submitter
- ARL2 p.Leu165Val Uncertain significance Single submitter
- ARL2 p.Leu3Phe Uncertain significance Single submitter
- ARL2 p.Met10Thr Uncertain significance Single submitter
- ARL2 p.Thr43Ser Uncertain significance Single submitter
All ARL2 variants
Pathogenic 1
- p.Arg15Leu No assertion criteria microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
Likely benign 4
- p.Arg96His Single submitter
- p.Glu163fs Single submitter microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1
- p.Pro167Leu Single submitter
- p.Arg139= No assertion criteria ARL2-related condition
Uncertain significance 23
- p.Arg139His Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg148His Single submitter ⚠
- p.Arg179Cys Single submitter ⚠
- p.Arg179His Single submitter ⚠
- p.Arg74Gln Single submitter ⚠
- p.Arg98His Single submitter ⚠
- p.Asp128Glu Single submitter ⚠
- p.Asp175Gly Single submitter ⚠
- p.Asp40Asn Single submitter ⚠
- p.Asp42Asn Single submitter ⚠
- p.Asp85Asn Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu140Val Single submitter ⚠
- p.Gly156Ser Single submitter ⚠
- p.Leu106Ile Single submitter ⚠
- p.Leu165Val Single submitter ⚠
- p.Leu3Phe Single submitter ⚠
- p.Lys9Arg Single submitter ⚠
- p.Met10Thr Single submitter ⚠
- p.Thr30Ala Single submitter ⚠
- p.Thr43Ser Single submitter ⚠
- p.Val160Ile Single submitter ⚠