ARL6 — 282 ClinVar variants
All ClinVar germline ARL6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
24 Pathogenic · 7 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 10 Conflicting · 11 Benign · 3 Benign/Likely benign · 112 Likely benign · 97 Uncertain significance
Full ARL6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ARL6 p.Arg121His
Likely pathogenic
Multiple submitters
Bardet-Biedl syndrome 3
-
ARL6 p.Asp179Asn
Pathogenic
Single submitter
Bardet-Biedl syndrome
Predictors agree, ClinVar conflicts 3
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ARL6 p.Cys148Gly
Conflicting
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Gly169Cys
Conflicting
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Ser97Arg
Conflicting
Single submitter
Bardet-Biedl syndrome
Predictors lean, ClinVar uncertain 47
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ARL6 p.Arg122Gln
Uncertain significance
Multiple submitters
retinitis pigmentosa 55
-
ARL6 p.Arg6Thr
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 1
-
ARL6 p.Asn114Ser
Uncertain significance
Multiple submitters
retinitis pigmentosa 55
-
ARL6 p.Asn41Asp
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 3
-
ARL6 p.Asp110Asn
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
ARL6 p.Asp175Ala
Uncertain significance
Multiple submitters
retinitis pigmentosa 55
-
ARL6 p.His115Arg
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 3
-
ARL6 p.Ile165Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL6 p.Leu177Phe
Uncertain significance
Multiple submitters
retinitis pigmentosa 55
-
ARL6 p.Ser140Pro
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 3
-
ARL6 p.Thr32Met
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 3
-
ARL6 p.Trp157Cys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 1
-
ARL6 p.Val103Ala
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 1
-
ARL6 p.Ala129Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Ala137Ser
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Ala89Asp
Uncertain significance
Single submitter
retinitis pigmentosa
-
ARL6 p.Arg135Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL6 p.Arg6Lys
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Arg99Lys
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Asn41Ser
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Asp110His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL6 p.Asp26Tyr
Uncertain significance
Single submitter
retinitis pigmentosa 55
- ARL6 p.Gln178Glu Uncertain significance Single submitter
-
ARL6 p.Glu107Gly
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Glu56Asp
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
- ARL6 p.Gly173Cys Uncertain significance Single submitter
-
ARL6 p.Gly24Glu
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Gly2Arg
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Gly72Ala
Uncertain significance
Single submitter
retinitis pigmentosa 55
- ARL6 p.Ile33Thr Uncertain significance Single submitter
-
ARL6 p.Ile55Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL6 p.Leu10Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Leu112Pro
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Leu79Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Lys153Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Lys36Arg
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Ser144Pro
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Ser162Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL6 p.Ser40Ala
Uncertain significance
Single submitter
ARL6-related disorder
-
ARL6 p.Ser71Leu
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Trp176Arg
Uncertain significance
Single submitter
retinitis pigmentosa
-
ARL6 p.Val174Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL6 p.Val184Leu
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Asn78Ser
Uncertain significance
No assertion criteria
ARL6-related disorder
-
ARL6 p.Leu100Ile
Uncertain significance
No assertion criteria
ARL6-related disorder
-
ARL6 p.Lys142Asn
Uncertain significance
No assertion criteria
ARL6-related disorder
-
ARL6 p.Lys59Arg
Uncertain significance
No assertion criteria
ARL6-related disorder
Predictors split 31
The independent predictors disagree with each other — read with care.
-
ARL6 p.Ala161Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
ARL6 p.Ala89Gly
Uncertain significance
Multiple submitters
retinitis pigmentosa 55
-
ARL6 p.Asp117Gly
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 3
-
ARL6 p.Glu17Lys
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 3
-
ARL6 p.Ile47Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL6 p.Ile51Thr
Uncertain significance
Multiple submitters
retinitis pigmentosa 55
-
ARL6 p.Ile94Thr
Pathogenic/Likely pathogenic
Multiple submitters
Bardet-Biedl syndrome 1
-
ARL6 p.Leu48His
Uncertain significance
Multiple submitters
Bardet-Biedl syndrome 3
-
ARL6 p.Lys106Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL6 p.Tyr76His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL6 p.Val18Ile
Uncertain significance
Multiple submitters
retinitis pigmentosa 55
-
ARL6 p.Arg121Cys
Conflicting
Single submitter
inherited retinal dystrophy
-
ARL6 p.Arg122Pro
Uncertain significance
Single submitter
retinitis pigmentosa
-
ARL6 p.Asn35Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL6 p.Glu17Asp
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Glu56Gln
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Gly167Arg
Conflicting
Single submitter
Bardet-Biedl syndrome 1
-
ARL6 p.Gly74Glu
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Ile125Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL6 p.Ile47Thr
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Leu170Val
Uncertain significance
Single submitter
Bardet-Biedl syndrome
-
ARL6 p.Leu37Val
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Lys15Glu
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Met102Ile
Uncertain significance
Single submitter
retinitis pigmentosa 55
-
ARL6 p.Thr66Ile
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Val103Phe
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Val174Ala
Uncertain significance
Single submitter
Bardet-Biedl syndrome 3
-
ARL6 p.Asn46Ser
Uncertain significance
No assertion criteria
ARL6-related disorder
-
ARL6 p.His158Arg
Uncertain significance
No assertion criteria
ARL6-related disorder
-
ARL6 p.His19Asp
Uncertain significance
No assertion criteria
ARL6-related disorder
-
ARL6 p.Ile34Met
Uncertain significance
No assertion criteria
ARL6-related disorder
All ARL6 variants
Pathogenic 24
- c.185+1G>C Multiple submitters ARL6-related disorder
- c.255-2A>T Multiple submitters retinitis pigmentosa 55
- p.Arg122Ter Multiple submitters retinitis pigmentosa 55
- p.Gly2Ter Multiple submitters Bardet-Biedl syndrome 1
- p.Thr31Met Multiple submitters retinitis pigmentosa 55
- p.Arg101Ile Single submitter Bardet-Biedl syndrome
- p.Asn130fs Single submitter inherited retinal dystrophy
- p.Asp136fs Single submitter Bardet-Biedl syndrome 3
- p.Asp179Asn Single submitter Bardet-Biedl syndrome ⚠
- p.Cys22Ter Single submitter Bardet-Biedl syndrome 3
- p.Gln43Ter Single submitter Bardet-Biedl syndrome 3
- p.Gln88Ter Single submitter Bardet-Biedl syndrome 3
- p.Gly169fs Single submitter retinitis pigmentosa 55
- p.Ile125fs Single submitter retinitis pigmentosa 55
- p.Leu63Ter Single submitter Bardet-Biedl syndrome 3
- p.Met1Val Single submitter Bardet-Biedl syndrome 3
- p.Trp157fs Single submitter Bardet-Biedl syndrome 3
- p.Trp176Cys Single submitter Bardet-Biedl syndrome
- p.Tyr84Ter Single submitter Bardet-Biedl syndrome 3
- c.185+1G>A No assertion criteria
- c.186-2A>C No assertion criteria inherited retinal dystrophy
- p.Asp117fs No assertion criteria Bardet-Biedl syndrome 3
- p.Leu126Ter No assertion criteria Bardet-Biedl syndrome 3
- p.Leu170Trp No assertion criteria Bardet-Biedl syndrome 3
Pathogenic/Likely pathogenic 7
- c.350-2A>C Multiple submitters retinitis pigmentosa 55
- p.Gln178= Multiple submitters Bardet-Biedl syndrome 3
- p.Gly169Ala Multiple submitters Bardet-Biedl syndrome 3
- p.Ile91Thr Multiple submitters Bardet-Biedl syndrome
- p.Ile94Thr Multiple submitters Bardet-Biedl syndrome 1 ⚠
- p.Thr31Arg Multiple submitters Bardet-Biedl syndrome 3
- p.Tyr76Ter Multiple submitters retinitis pigmentosa 55
Likely pathogenic 18
- c.349+1G>A Multiple submitters retinitis pigmentosa 55
- p.Arg121His Multiple submitters Bardet-Biedl syndrome 3 ⚠
- c.123+1G>A Single submitter Bardet-Biedl syndrome 3
- c.254+1G>A Single submitter retinitis pigmentosa 55
- c.255-1_256del Single submitter Bardet-Biedl syndrome 3
- c.349+2T>C Single submitter inherited retinal dystrophy
- c.350-13_350-2del Single submitter Bardet-Biedl syndrome 3
- c.479+1G>A Single submitter Bardet-Biedl syndrome 3
- c.480-2A>C Single submitter retinitis pigmentosa 55
- p.Ala89Val Single submitter retinitis pigmentosa 55
- p.Asp26Gly Single submitter retinitis pigmentosa 55
- p.Gly167fs Single submitter retinitis pigmentosa 55
- p.Leu10Ter Single submitter retinitis pigmentosa 55
- p.Leu23Pro Single submitter retinitis pigmentosa 55
- p.Tyr83Ter Single submitter
- c.124-2A>C No assertion criteria ARL6-related disorder
- p.Asp98Glu No assertion criteria inherited retinal dystrophy
- p.Gly72Arg No assertion criteria Bardet-Biedl syndrome 3
Conflicting classifications of pathogenicity 10
- c.186-11T>G Single submitter Bardet-Biedl syndrome 1
- c.536-4T>C Single submitter retinitis pigmentosa
- c.-27-1461A>T Single submitter retinitis pigmentosa
- c.*470G>A Single submitter retinitis pigmentosa
- p.Arg121Cys Single submitter inherited retinal dystrophy ⚠
- p.Cys148Gly Single submitter retinitis pigmentosa 55 ⚠
- p.Gly167Arg Single submitter Bardet-Biedl syndrome 1 ⚠
- p.Gly169Cys Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Lys85= Single submitter retinitis pigmentosa 55
- p.Ser97Arg Single submitter Bardet-Biedl syndrome ⚠
Benign 11
- c.186-18T>C Multiple submitters retinitis pigmentosa 55
- c.254+127T>A Multiple submitters
- c.535+80A>G Multiple submitters
- c.536-136C>G Multiple submitters
- c.*225G>C Multiple submitters
- c.123+165C>T Single submitter
- c.254+202T>C Single submitter
- c.349+275_349+276insAATT Single submitter
- c.349+302del Single submitter
- c.479+328C>T Single submitter
- c.535+13del Single submitter retinitis pigmentosa 55
Benign/Likely benign 3
- c.480-8C>T Multiple submitters retinitis pigmentosa
- p.Ser64= Multiple submitters retinitis pigmentosa 55
- c.*255C>T Single submitter retinitis pigmentosa
Likely benign 112
- c.255-49A>G Multiple submitters
- c.350-7C>T Multiple submitters Bardet-Biedl syndrome 1
- c.535+122A>G Multiple submitters
- p.Ala161Ser Multiple submitters retinitis pigmentosa 55
- p.Ser144= Multiple submitters Bardet-Biedl syndrome 3
- c.123+12T>C Single submitter Bardet-Biedl syndrome 3
- c.123+16A>G Single submitter Bardet-Biedl syndrome 3
- c.123+19T>C Single submitter retinitis pigmentosa 55
- c.123+19T>G Single submitter Bardet-Biedl syndrome 3
- c.124-13T>G Single submitter Bardet-Biedl syndrome 3
- c.124-16G>A Single submitter retinitis pigmentosa 55
- c.124-16G>T Single submitter retinitis pigmentosa 55
- c.124-17T>C Single submitter Bardet-Biedl syndrome 3
- c.124-20C>G Single submitter retinitis pigmentosa 55
- c.185+15C>G Single submitter Bardet-Biedl syndrome 3
- c.185+15C>T Single submitter Bardet-Biedl syndrome 3
- c.185+16C>T Single submitter Bardet-Biedl syndrome 3
- c.185+7C>A Single submitter retinitis pigmentosa 55
- c.185+9C>T Single submitter Bardet-Biedl syndrome 3
- c.186-5T>G Single submitter Bardet-Biedl syndrome 3
- c.254+12T>A Single submitter Bardet-Biedl syndrome 3
- c.254+13G>A Single submitter Bardet-Biedl syndrome 3
- c.254+7A>G Single submitter Bardet-Biedl syndrome 3
- c.254+8C>T Single submitter Bardet-Biedl syndrome 3
- c.254+9A>C Single submitter retinitis pigmentosa 55
- c.255-10C>T Single submitter Bardet-Biedl syndrome 3
- c.255-15C>A Single submitter retinitis pigmentosa 55
- c.255-16T>C Single submitter Bardet-Biedl syndrome 3
- c.255-17T>G Single submitter retinitis pigmentosa 55
- c.255-5C>T Single submitter Bardet-Biedl syndrome 3
- c.255-6A>T Single submitter Bardet-Biedl syndrome 3
- c.255-7del Single submitter retinitis pigmentosa 55
- c.349+19G>A Single submitter retinitis pigmentosa 55
- c.349+36G>A Single submitter
- c.349+7G>A Single submitter Bardet-Biedl syndrome 3
- c.349+9G>A Single submitter retinitis pigmentosa 55
- c.350-14_350-12del Single submitter Bardet-Biedl syndrome 3
- c.350-14A>G Single submitter Bardet-Biedl syndrome 3
- c.350-18T>C Single submitter Bardet-Biedl syndrome 3
- c.350-20A>G Single submitter Bardet-Biedl syndrome 3
- c.350-6T>G Single submitter Bardet-Biedl syndrome 3
- c.350-7_350-6del Single submitter retinitis pigmentosa 55
- c.350-8T>C Single submitter retinitis pigmentosa 55
- c.350-9C>T Single submitter retinitis pigmentosa 55
- c.479+10T>G Single submitter retinitis pigmentosa 55
- c.479+13A>G Single submitter Bardet-Biedl syndrome 3
- c.479+14T>C Single submitter Bardet-Biedl syndrome 3
- c.479+17_479+20del Single submitter Bardet-Biedl syndrome 3
- c.479+7T>C Single submitter retinitis pigmentosa 55
- c.480-10T>A Single submitter Bardet-Biedl syndrome 3
- c.480-12A>T Single submitter Bardet-Biedl syndrome 3
- c.480-13G>A Single submitter Bardet-Biedl syndrome 3
- c.480-15T>C Single submitter Bardet-Biedl syndrome 3
- c.480-16A>G Single submitter Bardet-Biedl syndrome 3
- c.480-20T>C Single submitter retinitis pigmentosa 55
- c.535+11A>G Single submitter Bardet-Biedl syndrome 3
- c.535+16C>A Single submitter Bardet-Biedl syndrome 3
- c.535+17T>G Single submitter Bardet-Biedl syndrome 3
- c.535+8A>G Single submitter Bardet-Biedl syndrome 3
- c.536-15_536-12del Single submitter Bardet-Biedl syndrome 3
- c.536-8G>A Single submitter Bardet-Biedl syndrome 3
- p.Ala161= Single submitter Bardet-Biedl syndrome 3
- p.Ala42= Single submitter Bardet-Biedl syndrome 3
- p.Ala89= Single submitter Bardet-Biedl syndrome 3
- p.Asn151= Single submitter Bardet-Biedl syndrome 3
- p.Asn27= Single submitter Bardet-Biedl syndrome 3
- p.Asp110= Single submitter Bardet-Biedl syndrome 3
- p.Asp154= Single submitter Bardet-Biedl syndrome 3
- p.Asp69= Single submitter Bardet-Biedl syndrome 3
- p.Asp98= Single submitter retinitis pigmentosa 55
- p.Gln43= Single submitter Bardet-Biedl syndrome 3
- p.Gly167= Single submitter Bardet-Biedl syndrome 3
- p.Gly173= Single submitter Bardet-Biedl syndrome 3
- p.Gly87= Single submitter Bardet-Biedl syndrome 3
- p.His120= Single submitter Bardet-Biedl syndrome 3
- p.His158= Single submitter retinitis pigmentosa 55
- p.Ile181= Single submitter Bardet-Biedl syndrome 3
- p.Ile33= Single submitter retinitis pigmentosa 55
- p.Ile47= Single submitter retinitis pigmentosa 55
- p.Ile51= Single submitter retinitis pigmentosa 55
- p.Leu10= Single submitter retinitis pigmentosa 55
- p.Leu100= Single submitter Bardet-Biedl syndrome 3
- p.Leu109= Single submitter Bardet-Biedl syndrome 3
- p.Leu11= Single submitter Bardet-Biedl syndrome 3
- p.Leu112= Single submitter Bardet-Biedl syndrome 3
- p.Leu146= Single submitter retinitis pigmentosa 55
- p.Leu170= Single submitter Bardet-Biedl syndrome 3
- p.Leu21= Single submitter retinitis pigmentosa 55
- p.Leu25= Single submitter retinitis pigmentosa 55
- p.Leu4= Single submitter Bardet-Biedl syndrome 3
- p.Phe128= Single submitter Bardet-Biedl syndrome 3
- p.Pro116= Single submitter Bardet-Biedl syndrome 3
- p.Pro124= Single submitter Bardet-Biedl syndrome 3
- p.Pro156= Single submitter Bardet-Biedl syndrome 3
- p.Pro49= Single submitter Bardet-Biedl syndrome 3
- p.Ser71= Single submitter retinitis pigmentosa 55
- p.Ser8= Single submitter retinitis pigmentosa 55
- p.Thr186= Single submitter Bardet-Biedl syndrome 3
- p.Thr31= Single submitter retinitis pigmentosa 55
- p.Thr32= Single submitter retinitis pigmentosa 55
- p.Thr50= Single submitter Bardet-Biedl syndrome 3
- p.Tyr83= Single submitter Bardet-Biedl syndrome 3
- p.Val138= Single submitter Bardet-Biedl syndrome 3
- p.Val67= Single submitter Bardet-Biedl syndrome 3
- c.185+5T>C No assertion criteria ARL6-related disorder
- c.480-23G>A No assertion criteria ARL6-related disorder
- c.480-25A>G No assertion criteria ARL6-related disorder
- c.535+10A>G No assertion criteria ARL6-related disorder
- p.Asp175= No assertion criteria ARL6-related disorder
- p.Ile152= No assertion criteria ARL6-related disorder
- p.Ile91= No assertion criteria ARL6-related disorder
- p.Val18= No assertion criteria ARL6-related disorder
Uncertain significance 97
- p.Ala161Val Multiple submitters inherited retinal dystrophy ⚠
- p.Ala89Gly Multiple submitters retinitis pigmentosa 55 ⚠
- p.Arg122Gln Multiple submitters retinitis pigmentosa 55 ⚠
- p.Arg6Thr Multiple submitters Bardet-Biedl syndrome 1 ⚠
- p.Asn114Ser Multiple submitters retinitis pigmentosa 55 ⚠
- p.Asn41Asp Multiple submitters Bardet-Biedl syndrome 3 ⚠
- p.Asp110Asn Multiple submitters inherited retinal dystrophy ⚠
- p.Asp117Gly Multiple submitters Bardet-Biedl syndrome 3 ⚠
- p.Asp175Ala Multiple submitters retinitis pigmentosa 55 ⚠
- p.Glu17Lys Multiple submitters Bardet-Biedl syndrome 3 ⚠
- p.His115Arg Multiple submitters Bardet-Biedl syndrome 3 ⚠
- p.Ile165Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile47Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ile51Thr Multiple submitters retinitis pigmentosa 55 ⚠
- p.Leu177Phe Multiple submitters retinitis pigmentosa 55 ⚠
- p.Leu48His Multiple submitters Bardet-Biedl syndrome 3 ⚠
- p.Lys106Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys16del Multiple submitters Bardet-Biedl syndrome 3
- p.Ser140Pro Multiple submitters Bardet-Biedl syndrome 3 ⚠
- p.Thr32Met Multiple submitters Bardet-Biedl syndrome 3 ⚠
- p.Trp157Cys Multiple submitters Bardet-Biedl syndrome 1 ⚠
- p.Tyr76His Multiple submitters Inborn genetic diseases ⚠
- p.Val103Ala Multiple submitters Bardet-Biedl syndrome 1 ⚠
- p.Val18Ile Multiple submitters retinitis pigmentosa 55 ⚠
- c.254+1371G>A Single submitter retinitis pigmentosa 55
- c.349+4T>C Single submitter Bardet-Biedl syndrome 3
- c.479+4_479+5del Single submitter Bardet-Biedl syndrome 3
- c.480-3C>G Single submitter Bardet-Biedl syndrome 3
- c.535+3A>C Single submitter
- c.-137A>C Single submitter retinitis pigmentosa
- c.-146T>C Single submitter retinitis pigmentosa
- c.-207G>A Single submitter retinitis pigmentosa
- c.-27-3C>T Single submitter Bardet-Biedl syndrome 3
- c.-371A>G Single submitter Bardet-Biedl syndrome 3
- c.-375C>T Single submitter Bardet-Biedl syndrome 3
- c.-71C>G Single submitter retinitis pigmentosa
- c.*275G>A Single submitter retinitis pigmentosa
- c.*309T>C Single submitter retinitis pigmentosa
- c.*495C>T Single submitter retinitis pigmentosa
- p.Ala129Val Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Ala137Ser Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Ala89Asp Single submitter retinitis pigmentosa ⚠
- p.Arg122Pro Single submitter retinitis pigmentosa ⚠
- p.Arg135Thr Single submitter Inborn genetic diseases ⚠
- p.Arg6Lys Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Arg99Lys Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Asn35Ser Single submitter Inborn genetic diseases ⚠
- p.Asn41Ser Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Asp110His Single submitter Inborn genetic diseases ⚠
- p.Asp26Tyr Single submitter retinitis pigmentosa 55 ⚠
- p.Asp5fs Single submitter retinitis pigmentosa 55
- p.Gln178Glu Single submitter ⚠
- p.Gln180Ter Single submitter Bardet-Biedl syndrome 3
- p.Glu107Gly Single submitter retinitis pigmentosa 55 ⚠
- p.Glu108del Single submitter retinitis pigmentosa 55
- p.Glu17Asp Single submitter retinitis pigmentosa 55 ⚠
- p.Glu56Asp Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Glu56Gln Single submitter retinitis pigmentosa 55 ⚠
- p.Gly173Cys Single submitter ⚠
- p.Gly24Glu Single submitter retinitis pigmentosa 55 ⚠
- p.Gly2Arg Single submitter retinitis pigmentosa 55 ⚠
- p.Gly72Ala Single submitter retinitis pigmentosa 55 ⚠
- p.Gly74Glu Single submitter retinitis pigmentosa 55 ⚠
- p.Ile125Val Single submitter Inborn genetic diseases ⚠
- p.Ile33Thr Single submitter ⚠
- p.Ile47Thr Single submitter retinitis pigmentosa 55 ⚠
- p.Ile55Val Single submitter Inborn genetic diseases ⚠
- p.Leu10Phe Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Leu112Pro Single submitter retinitis pigmentosa 55 ⚠
- p.Leu170Val Single submitter Bardet-Biedl syndrome ⚠
- p.Leu37Val Single submitter retinitis pigmentosa 55 ⚠
- p.Leu79Phe Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Lys153Arg Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Lys15Glu Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Lys36Arg Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Met102Ile Single submitter retinitis pigmentosa 55 ⚠
- p.Ser144Pro Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Ser162Arg Single submitter Inborn genetic diseases ⚠
- p.Ser40Ala Single submitter ARL6-related disorder ⚠
- p.Ser71Leu Single submitter retinitis pigmentosa 55 ⚠
- p.Thr66Ile Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Trp176Arg Single submitter retinitis pigmentosa ⚠
- p.Val103Phe Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Val174Ala Single submitter Bardet-Biedl syndrome 3 ⚠
- p.Val174Ile Single submitter Inborn genetic diseases ⚠
- p.Val184fs Single submitter Bardet-Biedl syndrome 3
- p.Val184Leu Single submitter Bardet-Biedl syndrome 3 ⚠
- c.535+122A>C No assertion criteria ARL6-related disorder
- p.Asn46Ser No assertion criteria ARL6-related disorder ⚠
- p.Asn78Ser No assertion criteria ARL6-related disorder ⚠
- p.Gln182fs No assertion criteria
- p.His158Arg No assertion criteria ARL6-related disorder ⚠
- p.His19Asp No assertion criteria ARL6-related disorder ⚠
- p.Ile34Met No assertion criteria ARL6-related disorder ⚠
- p.Leu100Ile No assertion criteria ARL6-related disorder ⚠
- p.Lys142Asn No assertion criteria ARL6-related disorder ⚠
- p.Lys59Arg No assertion criteria ARL6-related disorder ⚠