ARL13B — 418 ClinVar variants
All ClinVar germline ARL13B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 165 flagged for review →
10 Pathogenic · 10 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 30 Conflicting · 10 Benign · 9 Benign/Likely benign · 158 Likely benign · 169 Uncertain significance
Full ARL13B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 165
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 17
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ARL13B p.Ala141Gly
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Ala36Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ARL13B p.Arg209His
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Arg336Gln
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Arg418Gln
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Asn154Ser
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Asn277Lys
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Asn356Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ARL13B p.Cys146Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ARL13B p.Gln297His
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Gly384Glu
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.His357Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ARL13B p.Phe2Cys
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Ser169Leu
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Ser421Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ARL13B p.Tyr45Cys
Conflicting
Single submitter
Inborn genetic diseases
-
ARL13B p.Val22Gly
Conflicting
Single submitter
Joubert syndrome 8
Predictors lean, ClinVar uncertain 127
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ARL13B p.Ala137Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Ala210Val
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Ala261Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Ala323Val
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Ala423Val
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Arg103Ile
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Arg14Gln
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Arg336Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Arg358Gln
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Asn277Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Asp133Tyr
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Asp241Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Asp332Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Cys160Tyr
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Gln278His
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Gln309Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Gln326His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Glu228Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Glu281Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Glu299Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Gly286Ala
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Gly398Val
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.His291Gln
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Ile162Thr
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Ile265Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Ile364Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Ile69Val
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Leu271Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Lys347Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Met26Val
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Met280Thr
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Phe314Val
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Phe65Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Pro256Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Pro379Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Thr107Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Thr205Lys
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Thr300Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ARL13B p.Thr373Met
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Thr52Ala
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Tyr184Cys
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Tyr406Cys
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Val317Ile
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Ala238Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ARL13B p.Ala238Thr Uncertain significance Single submitter
-
ARL13B p.Ala32Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Arg219Gly
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Arg227Gln
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Arg273Thr
Uncertain significance
Single submitter
Joubert syndrome 8
- ARL13B p.Arg358Gly Uncertain significance Single submitter
- ARL13B p.Asn198Ser Uncertain significance Single submitter
-
ARL13B p.Asn277Ser
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Asn305Asp
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Asn311Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Asn403Lys
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Asp176Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Asp241Asn
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Asp283His
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Asp30Gly
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Asp365Gly
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Asp422Gly
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Asp71Asn
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Cys146Tyr
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Cys165Arg
Uncertain significance
Single submitter
Joubert syndrome 8
- ARL13B p.Gln278Glu Uncertain significance Single submitter
-
ARL13B p.Gln417Pro
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Glu102Val
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Glu163Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Glu234Gln
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Glu239Lys
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Glu274Lys
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Glu313Ala
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Glu340Asp
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Glu399Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ARL13B p.Glu47Lys Uncertain significance Single submitter
- ARL13B p.Glu88Ala Uncertain significance Single submitter
-
ARL13B p.Gly10Asp
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Gly10Ser
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Gly139Arg
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Gly170Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Gly182Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Gly43Arg
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Gly74Asp
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.His156Tyr
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.His295Arg
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.His357Gln
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.His357Tyr
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.His424Tyr
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ile120Met
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ile168Val
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ile179Phe
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ile260Val
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ile298Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Ile69Asn
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ile93Val
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Leu24Phe
Uncertain significance
Single submitter
Joubert syndrome 8
- ARL13B p.Leu397Arg Uncertain significance Single submitter
-
ARL13B p.Leu397Phe
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Leu72Val
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Lys275Glu
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Lys279Ile
Uncertain significance
Single submitter
Joubert syndrome 8
- ARL13B p.Lys321Asn Uncertain significance Single submitter
-
ARL13B p.Lys321Glu
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Lys345Glu
Uncertain significance
Single submitter
Joubert syndrome 8
- ARL13B p.Lys346Arg Uncertain significance Single submitter
-
ARL13B p.Lys387Glu
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Lys408Arg
Uncertain significance
Single submitter
Joubert syndrome 8
- ARL13B p.Lys408Glu Uncertain significance Single submitter
-
ARL13B p.Met353Thr
Uncertain significance
Single submitter
Joubert syndrome 8
- ARL13B p.Met5Leu Uncertain significance Single submitter
-
ARL13B p.Pro253Leu
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Pro386Ser
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Pro411Leu
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ser244Gly
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ser371Thr
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ser7Asn
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Thr300Ile
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Thr373Ser
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Thr389Ala
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Thr68Pro
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Tyr320Phe
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Val19Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Val304Ile
Uncertain significance
Single submitter
Joubert syndrome 8
- ARL13B p.Val381Gly Uncertain significance Single submitter
-
ARL13B p.Val426Gly
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Val426Met
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Val67Gly
Uncertain significance
Single submitter
Joubert syndrome 8
Predictors split 20
The independent predictors disagree with each other — read with care.
- ARL13B p.Arg209Cys Uncertain significance Multiple submitters
-
ARL13B p.Arg224Gln
Benign/Likely benign
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Pro378Leu
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Val96Leu
Uncertain significance
Multiple submitters
Joubert syndrome 8
-
ARL13B p.Arg200His
Conflicting
Single submitter
Joubert syndrome 8
-
ARL13B p.Cys8Gly
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Gln235Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Glu228Lys
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Gly136Arg
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ile264Ser
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Lys216Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Lys57Glu
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Pro377Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Pro378Ala
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Pro378Ser
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Ser121Leu
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Tyr86Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ARL13B p.Tyr90Cys
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Val22Met
Uncertain significance
Single submitter
Joubert syndrome 8
-
ARL13B p.Val27Met
Uncertain significance
Single submitter
Inborn genetic diseases
All ARL13B variants
Pathogenic 10
- p.Gly75Arg Multiple submitters Joubert syndrome and related disorders
- p.Arg227Ter Single submitter Joubert syndrome 8
- p.Asn330fs Single submitter Joubert syndrome 8
- p.Gln326fs Single submitter Joubert syndrome 8
- p.Lys180Ter Single submitter Joubert syndrome 8
- p.Ser148fs Single submitter Joubert syndrome 8
- p.Trp185Ter Single submitter Joubert syndrome 8
- p.Trp82Ter Single submitter Joubert syndrome 8
- p.Val92fs Single submitter Inborn genetic diseases
- p.Arg79Gln No assertion criteria Joubert syndrome 8
Pathogenic/Likely pathogenic 10
- c.131-1G>T Multiple submitters Joubert syndrome 8
- p.Arg200Cys Multiple submitters Joubert syndrome and related disorders
- p.Asn277fs Multiple submitters Joubert syndrome 8
- p.Asn311fs Multiple submitters Joubert syndrome 8
- p.Cys287Ter Multiple submitters Joubert syndrome 8
- p.Gln132fs Multiple submitters Joubert syndrome 8
- p.Gln258Ter Multiple submitters Joubert syndrome 8
- p.Leu25fs Multiple submitters Joubert syndrome 8
- p.Trp383fs Multiple submitters Joubert syndrome 8
- p.Tyr184fs Multiple submitters Joubert syndrome 8
Likely pathogenic 22
- c.1141+1G>A Multiple submitters Joubert syndrome 8
- p.Leu211fs Multiple submitters ARL13B-related disorder
- c.381-1G>A Single submitter Joubert syndrome 8
- c.59+1G>A Single submitter Joubert syndrome and related disorders
- c.689+1G>T Single submitter Joubert syndrome 8
- c.689+2T>G Single submitter Joubert syndrome 8
- p.Arg222Ter Single submitter Joubert syndrome 8
- p.Arg79Trp Single submitter Joubert syndrome 8
- p.Asn255Lys Single submitter ⚠
- p.Asn267fs Single submitter Joubert syndrome and related disorders
- p.Asn319fs Single submitter Joubert syndrome 8
- p.Cys287fs Single submitter Joubert syndrome 8
- p.Gln161Ter Single submitter ARL13B-related disorder
- p.Gln326Ter Single submitter Joubert syndrome and related disorders
- p.Glu17fs Single submitter Joubert syndrome 8
- p.Gly136fs Single submitter Joubert syndrome 8
- p.Ile81_Trp82insTer Single submitter Joubert syndrome and related disorders
- p.Lys225fs Single submitter ARL13B-related disorder
- p.Lys347fs Single submitter Joubert syndrome 8
- p.Lys350Ter Single submitter ARL13B-related disorder
- p.Phe2fs Single submitter ARL13B-related disorder
- p.Pro253fs Single submitter ARL13B-related disorder
Conflicting classifications of pathogenicity 30
- c.1024+6_1024+9del Single submitter Joubert syndrome 8
- c.1210+14A>G Single submitter Joubert syndrome 8
- c.487-9C>A Single submitter Joubert syndrome 8
- c.59+16C>G Single submitter Joubert syndrome 8
- c.689+13A>T Single submitter Joubert syndrome 8
- c.690-5G>A Single submitter Joubert syndrome 8
- c.798+4T>C Single submitter Joubert syndrome 8
- p.Ala141Gly Single submitter Joubert syndrome 8 ⚠
- p.Ala36Thr Single submitter Inborn genetic diseases ⚠
- p.Arg20= Single submitter Joubert syndrome 8
- p.Arg200His Single submitter Joubert syndrome 8 ⚠
- p.Arg209His Single submitter Joubert syndrome 8 ⚠
- p.Arg336Gln Single submitter Joubert syndrome 8 ⚠
- p.Arg418Gln Single submitter Joubert syndrome 8 ⚠
- p.Arg418Ter Single submitter Joubert syndrome 8
- p.Asn154Ser Single submitter Joubert syndrome 8 ⚠
- p.Asn277Lys Single submitter Joubert syndrome 8 ⚠
- p.Asn356Ser Single submitter Inborn genetic diseases ⚠
- p.Cys146Gly Single submitter Inborn genetic diseases ⚠
- p.Gln237Ter Single submitter Joubert syndrome 8
- p.Gln297His Single submitter Joubert syndrome 8 ⚠
- p.Gly10= Single submitter Joubert syndrome 8
- p.Gly384Glu Single submitter Joubert syndrome 8 ⚠
- p.His357Arg Single submitter Inborn genetic diseases ⚠
- p.Phe2Cys Single submitter Joubert syndrome 8 ⚠
- p.Ser169Leu Single submitter Joubert syndrome 8 ⚠
- p.Ser421Gly Single submitter Inborn genetic diseases ⚠
- p.Tyr45Cys Single submitter Inborn genetic diseases ⚠
- p.Val19= Single submitter Joubert syndrome 8
- p.Val22Gly Single submitter Joubert syndrome 8 ⚠
Benign 10
- c.486+22del Multiple submitters Joubert syndrome 1
- c.-234G>T Multiple submitters
- c.1210+196A>G Single submitter
- c.131-295A>G Single submitter
- c.59+245GT[15] Single submitter
- c.59+245GT[16] Single submitter
- c.59+245GT[18] Single submitter
- c.798+247A>G Single submitter
- p.Arg119= Single submitter
- p.Ile190Val Single submitter Joubert syndrome 8
Benign/Likely benign 9
- c.1025-48G>A Multiple submitters
- c.486+22dup Multiple submitters Joubert syndrome 1
- c.59+20C>T Multiple submitters Joubert syndrome 8
- c.689+19T>C Multiple submitters Joubert syndrome 8
- p.Arg224Gln Multiple submitters Joubert syndrome 8 ⚠
- p.Gly344= Multiple submitters Joubert syndrome 8
- p.Pro396Ala Multiple submitters Joubert syndrome 1
- p.Thr348Ser Multiple submitters Joubert syndrome 8
- p.Thr35= Multiple submitters Joubert syndrome 8
Likely benign 158
- c.1210+9A>T Multiple submitters Joubert syndrome 8
- c.1211-10C>A Multiple submitters Joubert syndrome 8
- c.1211-18T>C Multiple submitters Joubert syndrome 8
- c.130+7T>C Multiple submitters Joubert syndrome 8
- c.380+16A>G Multiple submitters Joubert syndrome 8
- c.486+11T>G Multiple submitters Joubert syndrome 8
- c.59+8G>A Multiple submitters Joubert syndrome 8
- c.690-10C>T Multiple submitters Joubert syndrome 8
- c.690-6C>T Multiple submitters Joubert syndrome 8
- c.-263C>T Multiple submitters
- p.Asn343= Multiple submitters Joubert syndrome 8
- p.Gln232= Multiple submitters
- p.Gln327= Multiple submitters Joubert syndrome 8
- p.Glu272= Multiple submitters Joubert syndrome 8
- p.Gly170= Multiple submitters
- p.Gly315Arg Multiple submitters Inborn genetic diseases
- p.Gly40= Multiple submitters Joubert syndrome 8
- p.Leu147= Multiple submitters Joubert syndrome 8
- p.Leu240= Multiple submitters Joubert syndrome 8
- p.Lys282= Multiple submitters Joubert syndrome 8
- p.Lys349Glu Multiple submitters Joubert syndrome 8
- p.Pro374= Multiple submitters
- p.Pro376= Multiple submitters Joubert syndrome 8
- p.Tyr90= Multiple submitters Joubert syndrome 8
- c.1024+10_1024+11del Single submitter Joubert syndrome 8
- c.1024+10C>G Single submitter Joubert syndrome 8
- c.1024+22_1024+26del Single submitter Joubert syndrome 8
- c.1024+262A>G Single submitter
- c.1024+9T>A Single submitter Joubert syndrome 8
- c.1025-17T>C Single submitter
- c.1025-20T>C Single submitter Joubert syndrome 8
- c.1141+7A>G Single submitter Joubert syndrome 8
- c.1142-12C>A Single submitter Joubert syndrome 8
- c.1142-12C>G Single submitter Joubert syndrome 8
- c.1142-13T>C Single submitter Joubert syndrome 8
- c.1142-6C>A Single submitter Joubert syndrome 8
- c.1142-6C>T Single submitter Joubert syndrome 8
- c.1142-8_1142-3del Single submitter Joubert syndrome 8
- c.1210+11A>C Single submitter Joubert syndrome 8
- c.1210+12G>C Single submitter Joubert syndrome 8
- c.1210+16del Single submitter Joubert syndrome 8
- c.1210+293del Single submitter
- c.1210+7C>A Single submitter Joubert syndrome 8
- c.1210+8A>G Single submitter Joubert syndrome 8
- c.1211-10C>T Single submitter Joubert syndrome 8
- c.1211-11T>A Single submitter Joubert syndrome 8
- c.1211-20G>T Single submitter Joubert syndrome 8
- c.1211-232del Single submitter
- c.1211-5_1211-4del Single submitter Joubert syndrome 8
- c.130+13C>T Single submitter Joubert syndrome 8
- c.130+14A>C Single submitter Joubert syndrome 8
- c.130+242T>C Single submitter
- c.130+662A>G Single submitter
- c.130+674T>C Single submitter
- c.130+676C>T Single submitter
- c.130+725C>T Single submitter
- c.130+726G>A Single submitter
- c.130+7T>G Single submitter Joubert syndrome 8
- c.130+8G>A Single submitter Joubert syndrome 8
- c.130+8G>T Single submitter Joubert syndrome 8
- c.131-11A>G Single submitter Joubert syndrome 8
- c.131-9T>C Single submitter Joubert syndrome 8
- c.380+10G>A Single submitter Joubert syndrome 8
- c.380+14G>A Single submitter Joubert syndrome 8
- c.380+19A>T Single submitter Joubert syndrome 8
- c.380+36G>A Single submitter
- c.380+8A>G Single submitter Joubert syndrome 8
- c.380+8A>T Single submitter Joubert syndrome 8
- c.381-234C>T Single submitter
- c.486+12T>G Single submitter Joubert syndrome 8
- c.486+13T>G Single submitter Joubert syndrome 8
- c.486+15T>A Single submitter Joubert syndrome 8
- c.486+19_486+22del Single submitter
- c.486+20T>A Single submitter Joubert syndrome 8
- c.486+21_486+22del Single submitter
- c.486+21_486+22dup Single submitter
- c.486+8T>G Single submitter Joubert syndrome 8
- c.487-11T>C Single submitter Joubert syndrome 8
- c.487-14_487-11del Single submitter Joubert syndrome 8
- c.487-15_487-12del Single submitter Joubert syndrome 8
- c.487-16T>C Single submitter Joubert syndrome 8
- c.487-5T>C Single submitter Joubert syndrome 8
- c.59+13C>T Single submitter
- c.59+14A>G Single submitter Joubert syndrome 8
- c.59+14del Single submitter Joubert syndrome 8
- c.59+15G>A Single submitter Joubert syndrome 8
- c.59+18G>C Single submitter Joubert syndrome 8
- c.59+20C>G Single submitter Joubert syndrome 8
- c.59+245GT[14] Single submitter
- c.59+245GT[19] Single submitter
- c.59+9dup Single submitter Joubert syndrome 8
- c.60-11A>G Single submitter Joubert syndrome 8
- c.60-18A>G Single submitter Joubert syndrome 8
- c.60-19A>T Single submitter Joubert syndrome 8
- c.60-20T>A Single submitter Joubert syndrome 8
- c.689+1196C>T Single submitter
- c.689+12_689+13delinsCC Single submitter Joubert syndrome 8
- c.689+1226A>G Single submitter
- c.689+8_689+11del Single submitter Joubert syndrome 8
- c.690-310G>A Single submitter
- c.798+16A>G Single submitter Joubert syndrome 8
- c.798+8T>A Single submitter Joubert syndrome 8
- c.798+8T>C Single submitter Joubert syndrome 8
- c.798+9G>A Single submitter Joubert syndrome 8
- c.799-18T>C Single submitter Joubert syndrome 8
- c.799-5G>C Single submitter Joubert syndrome 8
- c.-18T>C Single submitter
- c.-50C>A Single submitter
- p.Ala167= Single submitter Joubert syndrome 8
- p.Ala261= Single submitter Joubert syndrome 8
- p.Ala36= Single submitter Joubert syndrome 8
- p.Ala6= Single submitter Joubert syndrome 8
- p.Arg273= Single submitter Joubert syndrome 8
- p.Arg336= Single submitter Joubert syndrome 8
- p.Asn233= Single submitter Joubert syndrome 8
- p.Asn363= Single submitter Joubert syndrome 8
- p.Asp250= Single submitter Joubert syndrome 8
- p.Asp332= Single submitter Joubert syndrome 8
- p.Cys9= Single submitter Joubert syndrome 8
- p.Gln297= Single submitter Joubert syndrome 8
- p.Glu109= Single submitter
- p.Glu248= Single submitter Joubert syndrome 8
- p.Glu274= Single submitter Joubert syndrome 8
- p.Glu313= Single submitter Joubert syndrome 8
- p.Gly269= Single submitter Joubert syndrome 8
- p.Leu152= Single submitter Joubert syndrome 8
- p.Leu159= Single submitter Joubert syndrome 8
- p.Leu186= Single submitter Joubert syndrome 8
- p.Leu29= Single submitter Joubert syndrome 8
- p.Leu394= Single submitter Joubert syndrome 8
- p.Leu4= Single submitter Joubert syndrome 8
- p.Leu413= Single submitter Joubert syndrome 8
- p.Lys216= Single submitter Joubert syndrome 8
- p.Lys350= Single submitter Joubert syndrome 8
- p.Lys354= Single submitter Joubert syndrome 8
- p.Phe2= Single submitter Joubert syndrome 8
- p.Pro251= Single submitter Joubert syndrome 8
- p.Pro337= Single submitter
- p.Pro375= Single submitter Joubert syndrome 8
- p.Pro378= Single submitter Joubert syndrome 8
- p.Pro379= Single submitter Joubert syndrome 8
- p.Pro396= Single submitter Joubert syndrome 8
- p.Pro412= Single submitter
- p.Pro416= Single submitter Joubert syndrome 8
- p.Pro419= Single submitter Joubert syndrome 8
- p.Pro46= Single submitter Joubert syndrome 8
- p.Ser169= Single submitter Joubert syndrome 8
- p.Ser341= Single submitter Joubert syndrome 8
- p.Ser428= Single submitter Joubert syndrome 8
- p.Thr254= Single submitter Joubert syndrome 8
- p.Thr373= Single submitter Joubert syndrome 8
- p.Val143= Single submitter Joubert syndrome 8
- p.Val304= Single submitter Joubert syndrome 8
- p.Val388= Single submitter Joubert syndrome 8
- c.*2C>T No assertion criteria ARL13B-related disorder
- c.*8G>A No assertion criteria ARL13B-related disorder
- p.Cys165= No assertion criteria ARL13B-related disorder
- p.Pro380= No assertion criteria ARL13B-related disorder
Uncertain significance 169
- c.1211-1G>C Multiple submitters Joubert syndrome 8
- p.Ala137Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala210Val Multiple submitters Joubert syndrome 8 ⚠
- p.Ala261Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala323Val Multiple submitters Joubert syndrome 8 ⚠
- p.Ala423Val Multiple submitters Joubert syndrome 8 ⚠
- p.Arg103Ile Multiple submitters Joubert syndrome 8 ⚠
- p.Arg14Gln Multiple submitters Joubert syndrome 8 ⚠
- p.Arg209Cys Multiple submitters ⚠
- p.Arg336Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg358Gln Multiple submitters Joubert syndrome 8 ⚠
- p.Asn277Thr Multiple submitters Inborn genetic diseases ⚠
- p.Asp133Tyr Multiple submitters Joubert syndrome 8 ⚠
- p.Asp241Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp332Gly Multiple submitters Inborn genetic diseases ⚠
- p.Cys160Tyr Multiple submitters Joubert syndrome 8 ⚠
- p.Gln278His Multiple submitters Joubert syndrome 8 ⚠
- p.Gln309Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln326His Multiple submitters Inborn genetic diseases ⚠
- p.Glu228Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu281Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu299Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly286Ala Multiple submitters Joubert syndrome 8 ⚠
- p.Gly398Val Multiple submitters Joubert syndrome 8 ⚠
- p.His291Gln Multiple submitters Joubert syndrome 8 ⚠
- p.Ile162Thr Multiple submitters Joubert syndrome 8 ⚠
- p.Ile265Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile364Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile69Val Multiple submitters Joubert syndrome 8 ⚠
- p.Leu271Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys203del Multiple submitters Joubert syndrome 8
- p.Lys347Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met26Val Multiple submitters Joubert syndrome 8 ⚠
- p.Met280Thr Multiple submitters Joubert syndrome 8 ⚠
- p.Phe314Val Multiple submitters Joubert syndrome 8 ⚠
- p.Phe65Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro256Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro378Leu Multiple submitters Joubert syndrome 8 ⚠
- p.Pro379Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr107Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr205Lys Multiple submitters Joubert syndrome 8 ⚠
- p.Thr300Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr373Met Multiple submitters Joubert syndrome 8 ⚠
- p.Thr52Ala Multiple submitters Joubert syndrome 8 ⚠
- p.Tyr184Cys Multiple submitters Joubert syndrome 8 ⚠
- p.Tyr406Cys Multiple submitters Joubert syndrome 8 ⚠
- p.Val127Leu Multiple submitters Joubert syndrome 8
- p.Val317Ile Multiple submitters Joubert syndrome 8 ⚠
- p.Val96Leu Multiple submitters Joubert syndrome 8 ⚠
- c.1025-3T>A Single submitter Joubert syndrome 8
- c.1210+1G>T Single submitter Joubert syndrome 8
- c.130+663G>A Single submitter Joubert syndrome
- c.486+10T>G Single submitter
- c.487-3T>C Single submitter Joubert syndrome 8
- c.59+3A>G Single submitter Joubert syndrome 8
- c.798+4_798+5dup Single submitter Joubert syndrome 8
- c.*1_*4delACAA Single submitter Joubert syndrome 8
- p.Ala238Asp Single submitter Inborn genetic diseases ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala32Thr Single submitter Inborn genetic diseases ⚠
- p.Arg209_Gln214del Single submitter Joubert syndrome 8
- p.Arg219Gly Single submitter Joubert syndrome 8 ⚠
- p.Arg227_Glu228delinsGln Single submitter Joubert syndrome 8
- p.Arg227Gln Single submitter Joubert syndrome 8 ⚠
- p.Arg230Gly Single submitter Joubert syndrome 8
- p.Arg273Thr Single submitter Joubert syndrome 8 ⚠
- p.Arg358Gly Single submitter ⚠
- p.Asn198Ser Single submitter ⚠
- p.Asn277Ser Single submitter Joubert syndrome 8 ⚠
- p.Asn305Asp Single submitter Joubert syndrome 8 ⚠
- p.Asn311Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn403= Single submitter Joubert syndrome 8
- p.Asn403Lys Single submitter Joubert syndrome 8 ⚠
- p.Asp176Gly Single submitter Inborn genetic diseases ⚠
- p.Asp241Asn Single submitter Joubert syndrome 8 ⚠
- p.Asp283His Single submitter Joubert syndrome 8 ⚠
- p.Asp30Gly Single submitter Joubert syndrome 8 ⚠
- p.Asp365Gly Single submitter Joubert syndrome 8 ⚠
- p.Asp422Gly Single submitter Joubert syndrome 8 ⚠
- p.Asp71Asn Single submitter Joubert syndrome 8 ⚠
- p.Cys146Tyr Single submitter Joubert syndrome 8 ⚠
- p.Cys165Arg Single submitter Joubert syndrome 8 ⚠
- p.Cys8Gly Single submitter Joubert syndrome 8 ⚠
- p.Gln235Pro Single submitter Inborn genetic diseases ⚠
- p.Gln278Glu Single submitter ⚠
- p.Gln417Pro Single submitter Joubert syndrome 8 ⚠
- p.Glu102Val Single submitter Joubert syndrome 8 ⚠
- p.Glu163Asp Single submitter Inborn genetic diseases ⚠
- p.Glu163Gln Single submitter Joubert syndrome 8
- p.Glu228Lys Single submitter Joubert syndrome 8 ⚠
- p.Glu234Gln Single submitter Joubert syndrome 8 ⚠
- p.Glu239Lys Single submitter Joubert syndrome 8 ⚠
- p.Glu266= Single submitter Joubert syndrome 8
- p.Glu274Lys Single submitter Joubert syndrome 8 ⚠
- p.Glu313Ala Single submitter Joubert syndrome 8 ⚠
- p.Glu340Asp Single submitter Joubert syndrome 8 ⚠
- p.Glu399Gly Single submitter Inborn genetic diseases ⚠
- p.Glu47Lys Single submitter ⚠
- p.Glu88Ala Single submitter ⚠
- p.Gly10Asp Single submitter Joubert syndrome 8 ⚠
- p.Gly10Ser Single submitter Joubert syndrome 8 ⚠
- p.Gly136Arg Single submitter Joubert syndrome 8 ⚠
- p.Gly139Arg Single submitter Joubert syndrome 8 ⚠
- p.Gly170Arg Single submitter Inborn genetic diseases ⚠
- p.Gly182Ala Single submitter Inborn genetic diseases ⚠
- p.Gly302_Gln303insHis Single submitter Joubert syndrome 8
- p.Gly382Cys Single submitter Joubert syndrome 8
- p.Gly43Arg Single submitter Joubert syndrome 8 ⚠
- p.Gly63_Lys64insAsnAsnLeuArgGlnGly Single submitter Joubert syndrome 8
- p.Gly74Asp Single submitter Joubert syndrome 8 ⚠
- p.Gly80Arg Single submitter Joubert syndrome 8
- p.His156Tyr Single submitter Joubert syndrome 8 ⚠
- p.His295Arg Single submitter Joubert syndrome 8 ⚠
- p.His357Gln Single submitter Joubert syndrome 8 ⚠
- p.His357Tyr Single submitter Joubert syndrome 8 ⚠
- p.His424Tyr Single submitter Joubert syndrome 8 ⚠
- p.Ile120Met Single submitter Joubert syndrome 8 ⚠
- p.Ile168Val Single submitter Joubert syndrome 8 ⚠
- p.Ile179Phe Single submitter Joubert syndrome 8 ⚠
- p.Ile260Val Single submitter Joubert syndrome 8 ⚠
- p.Ile264Ser Single submitter Joubert syndrome 8 ⚠
- p.Ile298Leu Single submitter Inborn genetic diseases ⚠
- p.Ile69Asn Single submitter Joubert syndrome 8 ⚠
- p.Ile93Val Single submitter Joubert syndrome 8 ⚠
- p.Leu24Phe Single submitter Joubert syndrome 8 ⚠
- p.Leu397Arg Single submitter ⚠
- p.Leu397Phe Single submitter Joubert syndrome 8 ⚠
- p.Leu72Val Single submitter Joubert syndrome 8 ⚠
- p.Lys216Asn Single submitter Inborn genetic diseases ⚠
- p.Lys275Glu Single submitter Joubert syndrome 8 ⚠
- p.Lys279Ile Single submitter Joubert syndrome 8 ⚠
- p.Lys321Asn Single submitter ⚠
- p.Lys321Glu Single submitter Joubert syndrome 8 ⚠
- p.Lys345Glu Single submitter Joubert syndrome 8 ⚠
- p.Lys346Arg Single submitter ⚠
- p.Lys387Glu Single submitter Joubert syndrome 8 ⚠
- p.Lys408Arg Single submitter Joubert syndrome 8 ⚠
- p.Lys408Glu Single submitter ⚠
- p.Lys57Glu Single submitter Joubert syndrome 8 ⚠
- p.Lys64del Single submitter Joubert syndrome 8
- p.Met353Thr Single submitter Joubert syndrome 8 ⚠
- p.Met5Leu Single submitter ⚠
- p.Pro253Leu Single submitter Joubert syndrome 8 ⚠
- p.Pro259Ser Single submitter Joubert syndrome 8
- p.Pro377Arg Single submitter Inborn genetic diseases ⚠
- p.Pro378Ala Single submitter Joubert syndrome 8 ⚠
- p.Pro378Ser Single submitter Joubert syndrome 8 ⚠
- p.Pro386Ser Single submitter Joubert syndrome 8 ⚠
- p.Pro411Leu Single submitter Joubert syndrome 8 ⚠
- p.Ser121Leu Single submitter Joubert syndrome 8 ⚠
- p.Ser178Tyr Single submitter Joubert syndrome 8
- p.Ser244Gly Single submitter Joubert syndrome 8 ⚠
- p.Ser371Thr Single submitter Joubert syndrome 8 ⚠
- p.Ser7Asn Single submitter Joubert syndrome 8 ⚠
- p.Thr300Ile Single submitter Joubert syndrome 8 ⚠
- p.Thr373Ser Single submitter Joubert syndrome 8 ⚠
- p.Thr389Ala Single submitter Joubert syndrome 8 ⚠
- p.Thr68Pro Single submitter Joubert syndrome 8 ⚠
- p.Tyr320Phe Single submitter Joubert syndrome 8 ⚠
- p.Tyr86Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr90Cys Single submitter Joubert syndrome 8 ⚠
- p.Val19Ile Single submitter Inborn genetic diseases ⚠
- p.Val22Met Single submitter Joubert syndrome 8 ⚠
- p.Val27Met Single submitter Inborn genetic diseases ⚠
- p.Val304Ile Single submitter Joubert syndrome 8 ⚠
- p.Val381Gly Single submitter ⚠
- p.Val426Gly Single submitter Joubert syndrome 8 ⚠
- p.Val426Met Single submitter Joubert syndrome 8 ⚠
- p.Val67Gly Single submitter Joubert syndrome 8 ⚠