ARL3 — 148 ClinVar variants
All ClinVar germline ARL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
3 Pathogenic · 5 Conflicting · 3 Benign · 3 Benign/Likely benign · 46 Likely benign · 88 Uncertain significance
Full ARL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ARL3 p.Cys118Phe
Conflicting
Single submitter
retinitis pigmentosa
-
ARL3 p.Thr31Ala
Conflicting
Single submitter
retinitis pigmentosa
-
ARL3 p.Tyr90Cys
Conflicting
Single submitter
retinitis pigmentosa 83
Predictors lean, ClinVar uncertain 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ARL3 p.Ala13Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Ala179Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Ala28Thr
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
ARL3 p.Arg151Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Arg8Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Arg8Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Gly165Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Ile123Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Met170Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Met170Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Val56Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Arg19Lys
Uncertain significance
Single submitter
Joubert syndrome 35
- ARL3 p.Arg72Lys Uncertain significance Single submitter
- ARL3 p.Asp26Gly Uncertain significance Single submitter
-
ARL3 p.Asp67Asn
Uncertain significance
Single submitter
retinitis pigmentosa 83
- ARL3 p.Asp67Val Uncertain significance Single submitter
- ARL3 p.Asp93Asn Uncertain significance Single submitter
- ARL3 p.Asp96Glu Uncertain significance Single submitter
- ARL3 p.Cys118Arg Uncertain significance Single submitter
- ARL3 p.Gly104Asp Uncertain significance Single submitter
- ARL3 p.Gly24Ser Uncertain significance Single submitter
-
ARL3 p.Gly29Val
Uncertain significance
Single submitter
retinitis pigmentosa 83
- ARL3 p.Gly2Cys Uncertain significance Single submitter
- ARL3 p.Gly70Arg Uncertain significance Single submitter
- ARL3 p.Ile139Thr Uncertain significance Single submitter
- ARL3 p.Leu110Val Uncertain significance Single submitter
- ARL3 p.Leu22Phe Uncertain significance Single submitter
- ARL3 p.Leu23Arg Uncertain significance Single submitter
- ARL3 p.Leu33Phe Uncertain significance Single submitter
- ARL3 p.Lys127Glu Uncertain significance Single submitter
- ARL3 p.Phe51Leu Uncertain significance Single submitter
- ARL3 p.Pro135Ser Uncertain significance Single submitter
- ARL3 p.Pro47Ser Uncertain significance Single submitter
- ARL3 p.Ser157Ala Uncertain significance Single submitter
- ARL3 p.Tyr81Asp Uncertain significance Single submitter
- ARL3 p.Tyr90Ser Uncertain significance Single submitter
-
ARL3 p.Val121Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ARL3 p.Val166Ile Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
-
ARL3 p.Ala179Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Asp150Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Asp86Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Cys158Gly
Uncertain significance
Multiple submitters
Joubert syndrome 35
-
ARL3 p.Met170Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL3 p.Pro135Leu
Benign/Likely benign
Multiple submitters
inherited retinal dystrophy
-
ARL3 p.Ala136Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ARL3 p.Ala140Val Uncertain significance Single submitter
-
ARL3 p.Arg149Cys
Pathogenic
Single submitter
Joubert syndrome 35
-
ARL3 p.Arg149His
Conflicting
Single submitter
Joubert syndrome 35
- ARL3 p.Asn144Tyr Uncertain significance Single submitter
- ARL3 p.Asn171Ile Uncertain significance Single submitter
- ARL3 p.Asn52Ser Uncertain significance Single submitter
-
ARL3 p.Asn52Thr
Uncertain significance
Single submitter
inherited retinal dystrophy
- ARL3 p.Gln49Arg Uncertain significance Single submitter
-
ARL3 p.Leu130Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- ARL3 p.Leu161Arg Uncertain significance Single submitter
- ARL3 p.Leu4Phe Uncertain significance Single submitter
- ARL3 p.Pro14Arg Uncertain significance Single submitter
-
ARL3 p.Ser12Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL3 p.Ser39Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ARL3 p.Ser55Asn Uncertain significance Single submitter
-
ARL3 p.Thr103Met
Conflicting
Single submitter
inherited retinal dystrophy
- ARL3 p.Val119Met Uncertain significance Single submitter
- ARL3 p.Val173Ala Uncertain significance Single submitter
- ARL3 p.Val18Met Uncertain significance Single submitter
All ARL3 variants
Pathogenic 3
- p.Arg149Cys Single submitter Joubert syndrome 35 ⚠
- p.Arg99Ile Single submitter
- p.Gly70Glu Single submitter retinitis pigmentosa 83
Conflicting classifications of pathogenicity 5
- p.Arg149His Single submitter Joubert syndrome 35 ⚠
- p.Cys118Phe Single submitter retinitis pigmentosa ⚠
- p.Thr103Met Single submitter inherited retinal dystrophy ⚠
- p.Thr31Ala Single submitter retinitis pigmentosa ⚠
- p.Tyr90Cys Single submitter retinitis pigmentosa 83 ⚠
Benign 3
- c.-75C>T Multiple submitters retinitis pigmentosa 83
- p.Ala38= Multiple submitters
- c.264+49_264+50del Single submitter Joubert syndrome 35
Benign/Likely benign 3
- p.Arg149= Multiple submitters inherited retinal dystrophy
- p.Asn64= Multiple submitters inherited retinal dystrophy
- p.Pro135Leu Multiple submitters inherited retinal dystrophy ⚠
Likely benign 46
- p.Ala108= Multiple submitters
- p.Ile92= Multiple submitters
- p.Thr85= Multiple submitters
- c.147+17C>T Single submitter
- c.148-10C>T Single submitter
- c.148-18T>G Single submitter
- c.264+13_264+15del Single submitter
- c.264+18C>T Single submitter
- c.264+9T>C Single submitter
- c.265-20CTT[2] Single submitter
- c.3+16T>G Single submitter
- c.3+18G>C Single submitter
- c.3+9G>A Single submitter
- c.3+9G>T Single submitter
- c.315+11C>A Single submitter
- c.315+15T>G Single submitter
- c.315+16T>C Single submitter
- c.316-10C>T Single submitter
- c.316-12C>T Single submitter
- c.316-17C>G Single submitter
- c.316-6A>C Single submitter
- c.501+11A>G Single submitter
- c.501+17G>C Single submitter
- c.502-13A>C Single submitter
- c.502-17G>A Single submitter
- c.502-7C>T Single submitter
- p.Arg151= Single submitter
- p.Arg8= Single submitter
- p.Asn80= Single submitter
- p.Asp15= Single submitter
- p.Asp93= Single submitter
- p.Asp96= Single submitter
- p.Glu112= Single submitter
- p.Gly165= Single submitter
- p.Gly24= Single submitter
- p.Ile74= Single submitter
- p.Leu10= Single submitter
- p.Leu131= Single submitter
- p.Leu145= Single submitter
- p.Leu33= Single submitter
- p.Ser117= Single submitter
- p.Thr103= Single submitter
- p.Thr31= Single submitter
- p.Thr48= Single submitter
- p.Val65= Single submitter
- c.-8G>C No assertion criteria ARL3-related disorder
Uncertain significance 88
- c.3+1G>A Multiple submitters Joubert syndrome 35
- p.Ala13Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala179Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala179Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala28Thr Multiple submitters inherited retinal dystrophy ⚠
- p.Arg151Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg8Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg8Leu Multiple submitters Inborn genetic diseases ⚠
- p.Asp150Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp86Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys158Gly Multiple submitters Joubert syndrome 35 ⚠
- p.Gly165Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile123Val Multiple submitters Inborn genetic diseases ⚠
- p.Met170Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met170Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met170Val Multiple submitters Inborn genetic diseases ⚠
- p.Val56Ile Multiple submitters Inborn genetic diseases ⚠
- c.148-2A>G Single submitter
- c.148-3C>T Single submitter
- c.264+6T>A Single submitter
- c.265-3T>A Single submitter
- c.265-3T>C Single submitter
- c.3+2T>C Single submitter
- c.3+3G>T Single submitter
- c.3+5G>A Single submitter
- c.315+2T>G Single submitter
- c.316-2A>G Single submitter
- c.4-3A>T Single submitter
- c.501+1G>A Single submitter
- c.501+1G>T Single submitter
- c.501+6A>G Single submitter
- p.Ala136Ser Single submitter Inborn genetic diseases ⚠
- p.Ala140Val Single submitter ⚠
- p.Arg151Ter Single submitter
- p.Arg19Lys Single submitter Joubert syndrome 35 ⚠
- p.Arg72Lys Single submitter ⚠
- p.Asn144Tyr Single submitter ⚠
- p.Asn171Ile Single submitter ⚠
- p.Asn52Ser Single submitter ⚠
- p.Asn52Thr Single submitter inherited retinal dystrophy ⚠
- p.Asp26Gly Single submitter ⚠
- p.Asp67Asn Single submitter retinitis pigmentosa 83 ⚠
- p.Asp67Val Single submitter ⚠
- p.Asp93Asn Single submitter ⚠
- p.Asp96Glu Single submitter ⚠
- p.Cys118Arg Single submitter ⚠
- p.Cys174= Single submitter
- p.Gln49Arg Single submitter ⚠
- p.Gln57Ter Single submitter
- p.Gln71Ter Single submitter
- p.Glu113fs Single submitter
- p.Gly104Asp Single submitter ⚠
- p.Gly24Ser Single submitter ⚠
- p.Gly29Val Single submitter retinitis pigmentosa 83 ⚠
- p.Gly2Cys Single submitter ⚠
- p.Gly70Arg Single submitter ⚠
- p.Ile139Thr Single submitter ⚠
- p.Leu110Val Single submitter ⚠
- p.Leu130Phe Single submitter Inborn genetic diseases ⚠
- p.Leu143fs Single submitter
- p.Leu161Arg Single submitter ⚠
- p.Leu161Ile Single submitter
- p.Leu22Phe Single submitter ⚠
- p.Leu23Arg Single submitter ⚠
- p.Leu23del Single submitter
- p.Leu33Phe Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Leu88= Single submitter
- p.Lys127Glu Single submitter ⚠
- p.Lys54Ter Single submitter
- p.Met1Thr Single submitter
- p.Phe51Leu Single submitter ⚠
- p.Pro135Ser Single submitter ⚠
- p.Pro14Arg Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Ser12Asn Single submitter Inborn genetic diseases ⚠
- p.Ser157Ala Single submitter ⚠
- p.Ser39Cys Single submitter Inborn genetic diseases ⚠
- p.Ser55Asn Single submitter ⚠
- p.Trp78Ter Single submitter
- p.Tyr81Asp Single submitter ⚠
- p.Tyr90Ser Single submitter ⚠
- p.Val119Met Single submitter ⚠
- p.Val121Ala Single submitter Inborn genetic diseases ⚠
- p.Val166Ile Single submitter ⚠
- p.Val173Ala Single submitter ⚠
- p.Val18Met Single submitter ⚠
- c.315+6T>C No assertion criteria inherited retinal dystrophy