CEP104 — 621 ClinVar variants

All ClinVar germline CEP104 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

17 Pathogenic · 7 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 19 Conflicting · 129 Benign · 19 Benign/Likely benign · 199 Likely benign · 210 Uncertain significance

Full CEP104 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 222

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 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CEP104 p.Ala882Ser Conflicting Single submitter
Inborn genetic diseases
CEP104 p.Arg311His Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Arg409Gln Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Arg874His Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Arg93Gln Conflicting Single submitter
Inborn genetic diseases
CEP104 p.Asn728Asp Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Glu184Gln Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Gly808Glu Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Ile530Val Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Ile607Thr Conflicting Single submitter
Inborn genetic diseases
CEP104 p.Met321Val Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Met413Leu Conflicting Single submitter
Inborn genetic diseases
CEP104 p.Ser919Gly Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Tyr749Ser Conflicting Single submitter
intellectual developmental disorder, autosomal recessive 77

Predictors lean, ClinVar uncertain 137

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

CEP104 p.Ala269Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Ala310Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Ala895Val Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Arg111Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Arg222Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Arg22Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Arg299Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Arg388His Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Arg593Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Arg814His Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Asn162Ser Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Asp360Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Asp433Asn Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Asp652Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Gln587Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Glu16Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Glu179Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Gly18Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Gly704Val Uncertain significance Multiple submitters
intellectual developmental disorder, autosomal recessive 77
CEP104 p.His524Tyr Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Ile150Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Lys114Asn Uncertain significance Multiple submitters
intellectual developmental disorder, autosomal recessive 77
CEP104 p.Met204Ile Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Met321Ile Uncertain significance Multiple submitters
intellectual developmental disorder, autosomal recessive 77
CEP104 p.Pro361Arg Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Pro361Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Ser761Asn Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Ser917Gly Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Thr628Met Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Ala28Val Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ala310Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ala457Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ala499Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ala736Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ala737Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ala85Val Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ala892Thr Uncertain significance Single submitter
CEP104 p.Ala895Pro Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ala895Thr Uncertain significance Single submitter
CEP104 p.Arg111Trp Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg166Gln Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Arg215Gly Uncertain significance Single submitter
CEP104 p.Arg229His Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Arg280Cys Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Arg35Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg382Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg426Lys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg528Thr Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Arg626His Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Arg782Lys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg874Gly Uncertain significance Single submitter
CEP104 p.Arg91Gln Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Asn728Ser Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Asp159Asn Uncertain significance Single submitter
CEP104 p.Asp17Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp199Asn Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Asp203His Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp267Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp367Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp380Asn Uncertain significance Single submitter
CEP104 p.Asp407Asn Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp491Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp807Ala Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp807Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Cys54Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gln335His Uncertain significance Single submitter
CEP104 p.Gln355Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gln553Arg Uncertain significance Single submitter
CEP104 p.Gln713Glu Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Glu167Asp Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Glu264Gly Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Glu282Lys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Glu393Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Glu698Lys Uncertain significance Single submitter
CEP104 p.Gly247Ala Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gly331Arg Uncertain significance Single submitter
CEP104 p.Gly412Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gly468Glu Uncertain significance Single submitter
CEP104 p.Gly868Ser Uncertain significance Single submitter
CEP104 p.Gly897Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gly96Arg Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.His27Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.His356Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ile151Met Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ile405Val Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ile46Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ile56Leu Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ile755Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ile828Met Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ile828Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Leu174Phe Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Leu197Pro Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Leu297Val Uncertain significance Single submitter
CEP104 p.Leu309Arg Uncertain significance Single submitter
CEP104 p.Leu341Phe Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Leu377Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Leu517Pro Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Lys105Glu Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Lys727Glu Uncertain significance Single submitter
CEP104 p.Met204Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Met400Lys Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Met555Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Met636Val Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Phe302Leu Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Phe551Val Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Pro339Thr Uncertain significance Single submitter
intellectual developmental disorder, autosomal recessive 77
CEP104 p.Pro345Ala Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Pro361Ala Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro364Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro378Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro745Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro838Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro846Leu Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Pro883Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro910Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ser191Pro Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ser401Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ser401Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ser406Asn Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ser406Gly Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ser77Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ser77Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ser79Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Thr106Arg Uncertain significance Single submitter
CEP104 p.Thr163Pro Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Thr688Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Tyr173Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Tyr379Cys Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Tyr570His Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Tyr66Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Tyr87Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Tyr922Phe Uncertain significance Single submitter
CEP104 p.Val10Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Val482Ile Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Val485Ile Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Val8Leu Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Val98Met Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 71

The independent predictors disagree with each other — read with care.

CEP104 p.Ala686Val Benign Multiple submitters
Joubert syndrome 25
CEP104 p.Ala895Glu Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Arg222Trp Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Arg258Cys Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Arg656Cys Benign/Likely benign Multiple submitters
Joubert syndrome 25
CEP104 p.Arg91Trp Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Glu857Lys Benign/Likely benign Multiple submitters
Joubert syndrome 25
CEP104 p.Gly913Arg Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Ile139Thr Benign/Likely benign Multiple submitters
Joubert syndrome 25
CEP104 p.Lys273Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Lys685Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEP104 p.Ser195Ala Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Thr447Met Benign/Likely benign Multiple submitters
Joubert syndrome 25
CEP104 p.Tyr444Cys Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Val261Met Uncertain significance Multiple submitters
Joubert syndrome 25
CEP104 p.Ala201Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ala499Val Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ala629Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ala669Thr Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Arg249Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg311Cys Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Arg382Gly Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Arg388Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg409Trp Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg543Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg55Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Arg55Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp102Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp672Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Asp804Asn Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Cys101Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Glu209Gly Conflicting Single submitter
Joubert syndrome 25
CEP104 p.Glu262Lys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Glu277Val Uncertain significance Single submitter
autism spectrum disorder
CEP104 p.Glu296Lys Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Glu422Lys Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Glu45Asp Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Glu797Asp Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Glu797Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gly107Asp Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gly18Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gly415Trp Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gly810Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Gly904Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.His133Tyr Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ile214Val Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ile240Thr Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ile5Thr Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ile632Val Likely benign Single submitter
Inborn genetic diseases
CEP104 p.Ile72Thr Uncertain significance Single submitter
CEP104 p.Leu544His Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Lys693Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro196Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro417Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Pro568Ser Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ser794Asn Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ser816Ile Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Ser901Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Ser905Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Thr655Ala Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Thr663Ile Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Thr796Met Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Thr870Met Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Thr921Met Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Tyr187Cys Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Tyr749Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Tyr97Cys Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Val116Ile Uncertain significance Single submitter
Joubert syndrome 25
CEP104 p.Val225Ala Uncertain significance Single submitter
Inborn genetic diseases
CEP104 p.Val532Ile Likely benign Single submitter
Joubert syndrome 25
CEP104 p.Arg543His Uncertain significance No assertion criteria
CEP104-related disorder

All CEP104 variants

Pathogenic 17

p.Gln694fs Multiple submitters Joubert syndrome 25
c.2364+1G>A Single submitter Joubert syndrome and related disorders
c.735+2T>C Single submitter Joubert syndrome 25
p.Arg215Ter Single submitter Joubert syndrome and related disorders
p.Arg451Ter Single submitter Joubert syndrome 25
p.Arg53Ter Single submitter Joubert syndrome 25
p.Asp17fs Single submitter
p.Gly411fs Single submitter Joubert syndrome and related disorders
p.His582fs Single submitter Joubert syndrome 25
p.Lys344fs Single submitter Joubert syndrome 25
p.Pro361fs Single submitter Joubert syndrome 25
c.2572-2A>G No assertion criteria Joubert syndrome 25
p.Arg166Ter No assertion criteria Joubert syndrome 25
p.Cys786fs No assertion criteria intellectual developmental disorder, autosomal recessive 77
p.Leu634fs No assertion criteria intellectual developmental disorder, autosomal recessive 77
p.Thr30fs No assertion criteria cerebellar ataxia
p.Tyr444fs No assertion criteria Joubert syndrome 25

Pathogenic/Likely pathogenic 7

p.Arg299Ter Multiple submitters Joubert syndrome 25
p.Arg55Ter Multiple submitters Joubert syndrome 25
p.Glu627Ter Multiple submitters Joubert syndrome 25
p.Leu100_Cys101insTer Multiple submitters Joubert syndrome 25
p.Lys270Ter Multiple submitters intellectual developmental disorder, autosomal recessive 77
p.Thr351fs Multiple submitters Joubert syndrome 25
p.Tyr253Ter Multiple submitters Joubert syndrome 25

Likely pathogenic 21

c.1485+1G>A Multiple submitters Joubert syndrome and related disorders
p.Glu762fs Multiple submitters Joubert syndrome 25
c.1317+1del Single submitter Joubert syndrome and related disorders
c.1317+2T>G Single submitter Joubert syndrome 25
c.1659+1G>A Single submitter Joubert syndrome 25
c.2151+2T>C Single submitter Joubert syndrome 25
c.2188+1G>T Single submitter Joubert syndrome 25
c.2365-2A>G Single submitter Joubert syndrome 25
c.735+1G>T Single submitter Joubert syndrome 25
c.891+1G>A Single submitter Joubert syndrome and related disorders
p.Ala310fs Single submitter Joubert syndrome and related disorders
p.Cys54Ter Single submitter Joubert syndrome and related disorders
p.Glu521Ter Single submitter CEP104-related disorder
p.Glu697fs Single submitter Joubert syndrome 25
p.His830fs Single submitter
p.Leu414Ter Single submitter autism spectrum disorder
p.Leu61fs Single submitter Joubert syndrome and related disorders
p.Lys787fs Single submitter Joubert syndrome 25
p.Ser323Ter Single submitter Joubert syndrome 25
p.Tyr623fs Single submitter Joubert syndrome and related disorders
p.Gln886Ter No assertion criteria CEP104-related disorder

Conflicting classifications of pathogenicity 19

c.2503+1G>A Single submitter Joubert syndrome 25
c.2662+10A>T Single submitter Joubert syndrome 25
p.Ala882Ser Single submitter Inborn genetic diseases ⚠
p.Arg311His Single submitter Joubert syndrome 25 ⚠
p.Arg382Gly Single submitter Joubert syndrome 25 ⚠
p.Arg409Gln Single submitter Joubert syndrome 25 ⚠
p.Arg874His Single submitter Joubert syndrome 25 ⚠
p.Arg93Gln Single submitter Inborn genetic diseases ⚠
p.Asn728Asp Single submitter Joubert syndrome 25 ⚠
p.Gln335Ter Single submitter Autosomal recessive CEP104-related disorders
p.Glu184Gln Single submitter Joubert syndrome 25 ⚠
p.Glu209Gly Single submitter Joubert syndrome 25 ⚠
p.Gly808Glu Single submitter Joubert syndrome 25 ⚠
p.Ile530Val Single submitter Joubert syndrome 25 ⚠
p.Ile607Thr Single submitter Inborn genetic diseases ⚠
p.Met321Val Single submitter Joubert syndrome 25 ⚠
p.Met413Leu Single submitter Inborn genetic diseases ⚠
p.Ser919Gly Single submitter Joubert syndrome 25 ⚠
p.Tyr749Ser Single submitter intellectual developmental disorder, autosomal recessive 77 ⚠

Benign 129

c.1119+43A>G Multiple submitters
c.1120-59C>G Multiple submitters
c.114-41C>T Multiple submitters
c.114-79C>A Multiple submitters
c.1317+202T>C Multiple submitters
c.1317+46C>G Multiple submitters
c.1485+30G>T Multiple submitters
c.1485+52G>A Multiple submitters
c.1486-87G>A Multiple submitters
c.1659+259C>T Multiple submitters
c.1660-41A>G Multiple submitters
c.1836+30G>A Multiple submitters
c.1836+7A>G Multiple submitters Joubert syndrome 25
c.1837-149G>A Multiple submitters
c.1837-22C>A Multiple submitters
c.1837-28G>C Multiple submitters Joubert syndrome 25
c.2043+101A>G Multiple submitters
c.2151+109G>A Multiple submitters
c.2151+43A>G Multiple submitters Joubert syndrome 25
c.2152-11C>T Multiple submitters Joubert syndrome 25
c.2152-42C>G Multiple submitters
c.2152-83G>A Multiple submitters
c.2188+121C>T Multiple submitters
c.2188+86G>A Multiple submitters
c.2189-109T>C Multiple submitters
c.2189-132A>G Multiple submitters
c.2256-130C>T Multiple submitters
c.2364+65G>A Multiple submitters
c.2365-108C>T Multiple submitters
c.2571+127G>T Multiple submitters
c.2571+226C>T Multiple submitters
c.2662+137A>G Multiple submitters
c.2662+205A>T Multiple submitters
c.2662+248C>A Multiple submitters
c.2662+62A>G Multiple submitters Joubert syndrome 25
c.2663-22A>G Multiple submitters Joubert syndrome 25
c.2663-91G>A Multiple submitters Joubert syndrome 25
c.287+117G>A Multiple submitters
c.288-39G>A Multiple submitters
c.489+81G>A Multiple submitters
c.490-103T>C Multiple submitters
c.566+6A>T Multiple submitters Joubert syndrome 25
c.735+17A>G Multiple submitters Joubert syndrome 25
c.735+52T>C Multiple submitters
c.735+98G>T Multiple submitters
c.-14-48T>A Multiple submitters
c.-14-49T>A Multiple submitters
c.*1C>T Multiple submitters
c.*309G>A Multiple submitters
c.*7G>A Multiple submitters
p.Ala686Val Multiple submitters Joubert syndrome 25 ⚠
p.Arg638= Multiple submitters Joubert syndrome 25
p.Glu248= Multiple submitters Joubert syndrome 25
p.Leu414Ile Multiple submitters Joubert syndrome 25
p.Lys227= Multiple submitters Joubert syndrome 25
p.Pro361= Multiple submitters Joubert syndrome 25
p.Thr186= Multiple submitters Joubert syndrome 25
p.Thr438Asn Multiple submitters Joubert syndrome 25
c.113+130A>G Single submitter
c.113+140A>G Single submitter
c.113+291A>G Single submitter
c.113+294C>T Single submitter
c.114-204C>T Single submitter
c.114-218A>G Single submitter
c.1313_1317+2del Single submitter Joubert syndrome 25
c.1314_1317+2del Single submitter Joubert syndrome 25
c.1317+118G>A Single submitter
c.1317+15_1317+16insAAC Single submitter Joubert syndrome 25
c.1317+15_1317+16insC Single submitter Joubert syndrome 25
c.1317+188_1317+190del Single submitter
c.1317+189_1317+190del Single submitter
c.1317+267C>T Single submitter
c.1317+26A>C Single submitter
c.1317+3_1317+4dup Single submitter
c.1317+3_1317+5dup Single submitter
c.1317+3dup Single submitter
c.1318-273C>A Single submitter
c.1318-281G>A Single submitter
c.1318-310G>C Single submitter
c.1318-82dup Single submitter
c.1485+211G>C Single submitter
c.1486-130T>C Single submitter
c.1486-132A>C Single submitter
c.1659+210del Single submitter
c.1660-299T>C Single submitter
c.1836+268_1836+269del Single submitter
c.1836+291G>A Single submitter
c.2044-179T>C Single submitter
c.2151+273C>A Single submitter
c.2152-127dup Single submitter
c.2152-250dup Single submitter
c.2255+10G>A Single submitter Joubert syndrome 25
c.2364+143C>T Single submitter
c.2364+219G>A Single submitter
c.2364+313G>A Single submitter
c.2364+337A>G Single submitter
c.2365-144C>T Single submitter
c.2365-300A>G Single submitter
c.2504-14T>A Single submitter Joubert syndrome 25
c.2572-227G>C Single submitter
c.2572-283G>T Single submitter
c.2662+15C>T Single submitter Joubert syndrome 25
c.2663-173del Single submitter
c.287+193G>T Single submitter
c.287+294G>A Single submitter
c.287+61_287+65dup Single submitter
c.287+61dup Single submitter
c.288-284G>A Single submitter
c.426+175C>T Single submitter
c.426+277A>T Single submitter
c.426+87del Single submitter
c.427-148G>C Single submitter
c.427-161A>G Single submitter
c.427-165A>G Single submitter
c.566+1580_566+1581dup Single submitter
c.566+191dup Single submitter
c.567-122G>A Single submitter
c.567-153A>G Single submitter
c.567-190G>T Single submitter
c.567-192A>G Single submitter
c.736-186A>G Single submitter
c.736-192A>C Single submitter
c.-14-187A>G Single submitter
c.-14-246T>C Single submitter
c.-14-277G>A Single submitter
c.-14-291C>G Single submitter
c.-14-301G>A Single submitter
c.*311_*312insA Single submitter
p.Val546Ile Single submitter Joubert syndrome 25

Benign/Likely benign 19

c.1836+14G>A Multiple submitters Joubert syndrome 25
c.490-18G>A Multiple submitters Joubert syndrome 25
p.Ala164Ser Multiple submitters Joubert syndrome 25
p.Ala708= Multiple submitters Joubert syndrome 25
p.Arg656Cys Multiple submitters Joubert syndrome 25 ⚠
p.Glu184Asp Multiple submitters Joubert syndrome 25
p.Glu857Lys Multiple submitters Joubert syndrome 25 ⚠
p.Gly436= Multiple submitters Joubert syndrome 25
p.Gly704Glu Multiple submitters Joubert syndrome 25
p.Gly855Glu Multiple submitters Inborn genetic diseases
p.Gly912= Multiple submitters Joubert syndrome 25
p.His390Arg Multiple submitters Joubert syndrome 25
p.Ile139Thr Multiple submitters Joubert syndrome 25 ⚠
p.Leu455= Multiple submitters Joubert syndrome 25
p.Leu462= Multiple submitters Joubert syndrome 25
p.Leu59= Multiple submitters Joubert syndrome 25
p.Pro196= Multiple submitters Joubert syndrome 25
p.Pro745Leu Multiple submitters Joubert syndrome 25
p.Thr447Met Multiple submitters Joubert syndrome 25 ⚠

Likely benign 199

c.1119+144T>G Multiple submitters
c.1317+17A>C Multiple submitters Joubert syndrome 25
c.1317+28G>A Multiple submitters
c.1836+68G>C Multiple submitters
c.1837-74T>C Multiple submitters
c.2256-68G>A Multiple submitters
c.2662+115T>C Multiple submitters
c.2663-114G>A Multiple submitters
c.490-130A>G Multiple submitters
c.567-38G>A Multiple submitters
p.Ala281= Multiple submitters Joubert syndrome 25
p.Ala617= Multiple submitters Joubert syndrome 25
p.Asp491= Multiple submitters Joubert syndrome 25
p.Asp651= Multiple submitters Joubert syndrome 25
p.Leu243= Multiple submitters Joubert syndrome 25
p.Phe551= Multiple submitters Joubert syndrome 25
p.Pro883= Multiple submitters Joubert syndrome 25
p.Tyr813= Multiple submitters Joubert syndrome 25
c.1120-178T>C Single submitter
c.1120-8C>T Single submitter Joubert syndrome 25
c.113+104C>T Single submitter
c.113+116C>T Single submitter
c.113+14G>A Single submitter Joubert syndrome 25
c.113+154G>A Single submitter
c.113+18C>T Single submitter Joubert syndrome 25
c.113+19G>A Single submitter Joubert syndrome 25
c.113+337G>A Single submitter
c.113+7A>C Single submitter Joubert syndrome 25
c.114-114T>C Single submitter
c.114-121A>G Single submitter
c.114-13T>G Single submitter Joubert syndrome 25
c.114-80dup Single submitter
c.1317+12_1317+13insC Single submitter Joubert syndrome 25
c.1317+15A>C Single submitter Joubert syndrome 25
c.1317+16_1317+17insAAAC Single submitter Joubert syndrome 25
c.1317+16_1317+26del Single submitter Joubert syndrome 25
c.1317+16A>C Single submitter Joubert syndrome 25
c.1317+17_1317+18insC Single submitter Joubert syndrome 25
c.1317+190del Single submitter
c.1317+252A>C Single submitter
c.1317+258G>A Single submitter
c.1317+2T>A Single submitter
c.1318-12G>A Single submitter Joubert syndrome 25
c.1318-73del Single submitter
c.1485+14G>A Single submitter Joubert syndrome 25
c.1485+20G>A Single submitter Joubert syndrome 25
c.1485+273G>A Single submitter
c.1659+16C>T Single submitter Joubert syndrome 25
c.1659+17G>A Single submitter Joubert syndrome 25
c.1659+241T>G Single submitter
c.1659+268T>C Single submitter
c.1659+288T>A Single submitter
c.1659+8C>T Single submitter Joubert syndrome 25
c.1660-4A>C Single submitter Joubert syndrome 25
c.1836+11C>G Single submitter Joubert syndrome 25
c.1836+16G>A Single submitter Joubert syndrome 25
c.1836+213T>C Single submitter
c.1836+37A>G Single submitter
c.1837-251A>G Single submitter
c.1837-258G>A Single submitter
c.2043+120G>A Single submitter
c.2043+7del Single submitter Joubert syndrome 25
c.2044-164A>G Single submitter
c.2151+15C>T Single submitter Joubert syndrome 25
c.2151+16G>A Single submitter Joubert syndrome 25
c.2152-278C>T Single submitter
c.2189-6C>T Single submitter Joubert syndrome 25
c.2255+108_2255+109del Single submitter
c.2255+12_2255+18dup Single submitter Joubert syndrome 25
c.2255+17T>C Single submitter Joubert syndrome 25
c.2255+7C>T Single submitter Joubert syndrome 25
c.2255+8G>A Single submitter Joubert syndrome 25
c.2256-12C>T Single submitter Joubert syndrome 25
c.2364+10G>A Single submitter Joubert syndrome 25
c.2364+8C>T Single submitter Joubert syndrome 25
c.2364+9A>G Single submitter Joubert syndrome 25
c.2365-10C>T Single submitter Joubert syndrome 25
c.2365-18C>G Single submitter Joubert syndrome 25
c.2365-18C>T Single submitter Joubert syndrome 25
c.2365-286T>C Single submitter
c.2365-9G>A Single submitter Joubert syndrome 25
c.2503+10C>A Single submitter Joubert syndrome 25
c.2503+10C>T Single submitter Joubert syndrome 25
c.2503+17A>G Single submitter Joubert syndrome 25
c.2571+74G>A Single submitter
c.2572-14C>T Single submitter Joubert syndrome 25
c.2572-36G>A Single submitter
c.2572-46G>A Single submitter
c.2662+12C>T Single submitter Joubert syndrome 25
c.2662+132T>C Single submitter
c.2662+13G>A Single submitter Joubert syndrome 25
c.2663-8C>A Single submitter Joubert syndrome 25
c.287+144T>C Single submitter
c.287+15T>C Single submitter Joubert syndrome 25
c.287+204G>C Single submitter
c.288-315C>T Single submitter
c.288-82G>T Single submitter
c.426+15G>A Single submitter Joubert syndrome 25
c.426+190_426+211dup Single submitter
c.426+19C>T Single submitter Joubert syndrome 25
c.426+20G>A Single submitter Joubert syndrome 25
c.426+20G>T Single submitter Joubert syndrome 25
c.426+271C>T Single submitter
c.489+13A>C Single submitter Joubert syndrome 25
c.489+15T>C Single submitter Joubert syndrome 25
c.490-8C>T Single submitter Joubert syndrome 25
c.566+12G>A Single submitter Joubert syndrome 25
c.566+14T>C Single submitter Joubert syndrome 25
c.566+17C>G Single submitter Joubert syndrome 25
c.566+19A>G Single submitter Joubert syndrome 25
c.567-267C>T Single submitter
c.567-6C>A Single submitter Joubert syndrome 25
c.567-7_567-6del Single submitter Joubert syndrome 25
c.736-19_736-18delinsAT Single submitter Joubert syndrome 25
c.736-235A>G Single submitter
c.891+20C>T Single submitter Joubert syndrome 25
c.891+7G>A Single submitter Joubert syndrome 25
c.892-16C>G Single submitter Joubert syndrome 25
c.892-4C>G Single submitter Joubert syndrome 25
c.-14-9TA[3] Single submitter
c.*140G>A Single submitter
c.*38A>C Single submitter
p.Ala188Thr Single submitter Inborn genetic diseases
p.Ala295= Single submitter Joubert syndrome 25
p.Ala403= Single submitter
p.Ala642= Single submitter Joubert syndrome 25
p.Ala686= Single submitter Joubert syndrome 25
p.Ala737= Single submitter Joubert syndrome 25
p.Ala867= Single submitter Joubert syndrome 25
p.Ala894= Single submitter Joubert syndrome 25
p.Ala903= Single submitter Joubert syndrome 25
p.Arg545= Single submitter Joubert syndrome 25
p.Arg683Gln Single submitter Inborn genetic diseases
p.Arg782= Single submitter Joubert syndrome 25
p.Arg925= Single submitter Joubert syndrome 25
p.Asp156= Single submitter Joubert syndrome 25
p.Asp635= Single submitter Joubert syndrome 25
p.Asp652= Single submitter Joubert syndrome 25
p.Gln326= Single submitter Joubert syndrome 25
p.Gln41= Single submitter Joubert syndrome 25
p.Gln732= Single submitter Joubert syndrome 25
p.Gln886= Single submitter Joubert syndrome 25
p.Glu256= Single submitter Joubert syndrome 25
p.Glu288Gln Single submitter Inborn genetic diseases
p.Glu328= Single submitter Joubert syndrome 25
p.Glu720= Single submitter Joubert syndrome 25
p.Glu766= Single submitter Joubert syndrome 25
p.Gly667= Single submitter Joubert syndrome 25
p.Gly734Arg Single submitter Inborn genetic diseases
p.His130= Single submitter Joubert syndrome 25
p.His15= Single submitter Joubert syndrome 25
p.Ile46= Single submitter Joubert syndrome 25
p.Ile632Val Single submitter Inborn genetic diseases ⚠
p.Leu250= Single submitter Joubert syndrome 25
p.Leu309= Single submitter Joubert syndrome 25
p.Leu458= Single submitter
p.Leu474= Single submitter Joubert syndrome 25
p.Leu484= Single submitter
p.Leu709= Single submitter Joubert syndrome 25
p.Lys775= Single submitter Joubert syndrome 25
p.Phe202= Single submitter Joubert syndrome 25
p.Phe820= Single submitter Joubert syndrome 25
p.Pro2= Single submitter Joubert syndrome 25
p.Pro398= Single submitter Joubert syndrome 25
p.Pro531= Single submitter
p.Pro650= Single submitter Joubert syndrome 25
p.Pro738= Single submitter Joubert syndrome 25
p.Pro838= Single submitter Joubert syndrome 25
p.Pro910= Single submitter Joubert syndrome 25
p.Ser115= Single submitter
p.Ser347= Single submitter Joubert syndrome 25
p.Ser406= Single submitter Joubert syndrome 25
p.Ser603= Single submitter Joubert syndrome 25
p.Ser901= Single submitter Joubert syndrome 25
p.Ser917= Single submitter Joubert syndrome 25
p.Thr447= Single submitter Joubert syndrome 25
p.Thr535Ala Single submitter Inborn genetic diseases
p.Thr796= Single submitter Joubert syndrome 25
p.Thr801= Single submitter Joubert syndrome 25
p.Thr870= Single submitter Joubert syndrome 25
p.Thr921= Single submitter Joubert syndrome 25
p.Tyr187= Single submitter Joubert syndrome 25
p.Tyr266= Single submitter Joubert syndrome 25
p.Tyr284= Single submitter
p.Tyr379= Single submitter Joubert syndrome 25
p.Tyr75= Single submitter Joubert syndrome 25
p.Tyr922= Single submitter Joubert syndrome 25
p.Tyr97= Single submitter
p.Val10= Single submitter Joubert syndrome 25
p.Val143= Single submitter Joubert syndrome 25
p.Val493= Single submitter Joubert syndrome 25
p.Val532Ile Single submitter Joubert syndrome 25 ⚠
p.Val572= Single submitter Joubert syndrome 25
p.Val8= Single submitter Joubert syndrome 25
p.Val9= Single submitter Joubert syndrome 25
p.Ala739= No assertion criteria CEP104-related disorder
p.Pro846= No assertion criteria CEP104-related disorder
p.Ser20= No assertion criteria CEP104-related disorder
p.Thr628= No assertion criteria CEP104-related disorder

Uncertain significance 210

c.1120-5T>A Multiple submitters Joubert syndrome 25
c.2571+6G>A Multiple submitters Joubert syndrome 25
p.Ala269Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala310Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala895Glu Multiple submitters Joubert syndrome 25 ⚠
p.Ala895Val Multiple submitters Joubert syndrome 25 ⚠
p.Arg111Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg222Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg222Trp Multiple submitters Joubert syndrome 25 ⚠
p.Arg22Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg258Cys Multiple submitters Joubert syndrome 25 ⚠
p.Arg299Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg388His Multiple submitters Inborn genetic diseases ⚠
p.Arg593Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg814His Multiple submitters Inborn genetic diseases ⚠
p.Arg91Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn162Ser Multiple submitters Joubert syndrome 25 ⚠
p.Asp360Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp433Asn Multiple submitters Joubert syndrome 25 ⚠
p.Asp652Asn Multiple submitters Inborn genetic diseases ⚠
p.Gln587Arg Multiple submitters Inborn genetic diseases ⚠
p.Glu16Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu179Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly18Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly704Val Multiple submitters intellectual developmental disorder, autosomal recessive 77 ⚠
p.Gly913Arg Multiple submitters Joubert syndrome 25 ⚠
p.His524Tyr Multiple submitters Joubert syndrome 25 ⚠
p.Ile150Thr Multiple submitters Inborn genetic diseases ⚠
p.Lys114Asn Multiple submitters intellectual developmental disorder, autosomal recessive 77 ⚠
p.Lys273Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys685Thr Multiple submitters Inborn genetic diseases ⚠
p.Met204Ile Multiple submitters Joubert syndrome 25 ⚠
p.Met321Ile Multiple submitters intellectual developmental disorder, autosomal recessive 77 ⚠
p.Pro361Arg Multiple submitters Joubert syndrome 25 ⚠
p.Pro361Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser195Ala Multiple submitters Joubert syndrome 25 ⚠
p.Ser495= Multiple submitters Joubert syndrome 25
p.Ser761Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser917Gly Multiple submitters Inborn genetic diseases ⚠
p.Thr628Met Multiple submitters Joubert syndrome 25 ⚠
p.Tyr444Cys Multiple submitters Joubert syndrome 25 ⚠
p.Val261Met Multiple submitters Joubert syndrome 25 ⚠
c.113+4A>G Single submitter
c.1317+3A>T Single submitter Joubert syndrome 25
c.2151+3T>C Single submitter Joubert syndrome 25
c.2571+3G>A Single submitter Inborn genetic diseases
c.735+6G>T Single submitter
c.736-2A>T Single submitter
p.Ala201Val Single submitter Inborn genetic diseases ⚠
p.Ala28Val Single submitter Joubert syndrome 25 ⚠
p.Ala310Ser Single submitter Inborn genetic diseases ⚠
p.Ala457Thr Single submitter Inborn genetic diseases ⚠
p.Ala499Thr Single submitter Inborn genetic diseases ⚠
p.Ala499Val Single submitter Joubert syndrome 25 ⚠
p.Ala629Val Single submitter Inborn genetic diseases ⚠
p.Ala669Thr Single submitter Joubert syndrome 25 ⚠
p.Ala736Val Single submitter Inborn genetic diseases ⚠
p.Ala737Val Single submitter Inborn genetic diseases ⚠
p.Ala85Val Single submitter Joubert syndrome 25 ⚠
p.Ala892Thr Single submitter ⚠
p.Ala895Pro Single submitter Inborn genetic diseases ⚠
p.Ala895Thr Single submitter ⚠
p.Arg111Trp Single submitter Inborn genetic diseases ⚠
p.Arg166Gln Single submitter Joubert syndrome 25 ⚠
p.Arg215Gly Single submitter ⚠
p.Arg229Gln Single submitter
p.Arg229His Single submitter Joubert syndrome 25 ⚠
p.Arg249Cys Single submitter Inborn genetic diseases ⚠
p.Arg280Cys Single submitter Joubert syndrome 25 ⚠
p.Arg311Cys Single submitter Joubert syndrome 25 ⚠
p.Arg35Gln Single submitter Inborn genetic diseases ⚠
p.Arg382Gln Single submitter Inborn genetic diseases ⚠
p.Arg388Cys Single submitter Inborn genetic diseases ⚠
p.Arg409Trp Single submitter Inborn genetic diseases ⚠
p.Arg426Lys Single submitter Inborn genetic diseases ⚠
p.Arg528Thr Single submitter Joubert syndrome 25 ⚠
p.Arg543Cys Single submitter Inborn genetic diseases ⚠
p.Arg55Gln Single submitter Inborn genetic diseases ⚠
p.Arg55Gly Single submitter Inborn genetic diseases ⚠
p.Arg626His Single submitter Joubert syndrome 25 ⚠
p.Arg782Lys Single submitter Inborn genetic diseases ⚠
p.Arg874Gly Single submitter ⚠
p.Arg91Gln Single submitter Joubert syndrome 25 ⚠
p.Asn728Ser Single submitter Joubert syndrome 25 ⚠
p.Asp102Val Single submitter Inborn genetic diseases ⚠
p.Asp159Asn Single submitter ⚠
p.Asp17Glu Single submitter Inborn genetic diseases ⚠
p.Asp199Asn Single submitter Joubert syndrome 25 ⚠
p.Asp203His Single submitter Inborn genetic diseases ⚠
p.Asp267Glu Single submitter Inborn genetic diseases ⚠
p.Asp367Glu Single submitter Inborn genetic diseases ⚠
p.Asp380Asn Single submitter ⚠
p.Asp407Asn Single submitter Inborn genetic diseases ⚠
p.Asp491Gly Single submitter Inborn genetic diseases ⚠
p.Asp672Gly Single submitter Inborn genetic diseases ⚠
p.Asp804Asn Single submitter Inborn genetic diseases ⚠
p.Asp807Ala Single submitter Inborn genetic diseases ⚠
p.Asp807Glu Single submitter Inborn genetic diseases ⚠
p.Cys101Arg Single submitter Inborn genetic diseases ⚠
p.Cys54Ser Single submitter Inborn genetic diseases ⚠
p.Gln335His Single submitter ⚠
p.Gln355Glu Single submitter Inborn genetic diseases ⚠
p.Gln553Arg Single submitter ⚠
p.Gln713Glu Single submitter Joubert syndrome 25 ⚠
p.Glu167Asp Single submitter Inborn genetic diseases ⚠
p.Glu262Lys Single submitter Inborn genetic diseases ⚠
p.Glu264Gly Single submitter Joubert syndrome 25 ⚠
p.Glu277Val Single submitter autism spectrum disorder ⚠
p.Glu282Lys Single submitter Inborn genetic diseases ⚠
p.Glu296Lys Single submitter Joubert syndrome 25 ⚠
p.Glu393Val Single submitter Inborn genetic diseases ⚠
p.Glu422Lys Single submitter Joubert syndrome 25 ⚠
p.Glu45Asp Single submitter Inborn genetic diseases ⚠
p.Glu698Lys Single submitter ⚠
p.Glu797Asp Single submitter Inborn genetic diseases ⚠
p.Glu797Gly Single submitter Inborn genetic diseases ⚠
p.Gly107Asp Single submitter Inborn genetic diseases ⚠
p.Gly18Cys Single submitter Inborn genetic diseases ⚠
p.Gly247Ala Single submitter Inborn genetic diseases ⚠
p.Gly331Arg Single submitter ⚠
p.Gly412Val Single submitter Inborn genetic diseases ⚠
p.Gly415Trp Single submitter Inborn genetic diseases ⚠
p.Gly468Glu Single submitter ⚠
p.Gly810Arg Single submitter Inborn genetic diseases ⚠
p.Gly868Ser Single submitter ⚠
p.Gly897Ser Single submitter Inborn genetic diseases ⚠
p.Gly904Arg Single submitter Inborn genetic diseases ⚠
p.Gly96Arg Single submitter Joubert syndrome 25 ⚠
p.His133Tyr Single submitter Inborn genetic diseases ⚠
p.His27Gln Single submitter Inborn genetic diseases ⚠
p.His356Arg Single submitter Inborn genetic diseases ⚠
p.Ile151Met Single submitter Joubert syndrome 25 ⚠
p.Ile214Val Single submitter Inborn genetic diseases ⚠
p.Ile240Thr Single submitter Joubert syndrome 25 ⚠
p.Ile405Val Single submitter Joubert syndrome 25 ⚠
p.Ile46Leu Single submitter Inborn genetic diseases ⚠
p.Ile56Leu Single submitter Joubert syndrome 25 ⚠
p.Ile5Thr Single submitter Joubert syndrome 25 ⚠
p.Ile72Thr Single submitter ⚠
p.Ile755Thr Single submitter Inborn genetic diseases ⚠
p.Ile828Met Single submitter Inborn genetic diseases ⚠
p.Ile828Val Single submitter Inborn genetic diseases ⚠
p.Leu174Phe Single submitter Joubert syndrome 25 ⚠
p.Leu197Pro Single submitter Joubert syndrome 25 ⚠
p.Leu297Val Single submitter ⚠
p.Leu309Arg Single submitter ⚠
p.Leu341Phe Single submitter Inborn genetic diseases ⚠
p.Leu377Val Single submitter Inborn genetic diseases ⚠
p.Leu517Pro Single submitter Joubert syndrome 25 ⚠
p.Leu544His Single submitter Joubert syndrome 25 ⚠
p.Lys105Glu Single submitter Joubert syndrome 25 ⚠
p.Lys693Glu Single submitter Inborn genetic diseases ⚠
p.Lys727Glu Single submitter ⚠
p.Met204Thr Single submitter Inborn genetic diseases ⚠
p.Met400Lys Single submitter Joubert syndrome 25 ⚠
p.Met555Ile Single submitter Inborn genetic diseases ⚠
p.Met636Val Single submitter Joubert syndrome 25 ⚠
p.Phe302Leu Single submitter Joubert syndrome 25 ⚠
p.Phe551Val Single submitter Joubert syndrome 25 ⚠
p.Pro196Ser Single submitter Inborn genetic diseases ⚠
p.Pro339Thr Single submitter intellectual developmental disorder, autosomal recessive 77 ⚠
p.Pro345Ala Single submitter Joubert syndrome 25 ⚠
p.Pro361Ala Single submitter Inborn genetic diseases ⚠
p.Pro364Leu Single submitter Inborn genetic diseases ⚠
p.Pro378Thr Single submitter Inborn genetic diseases ⚠
p.Pro417Leu Single submitter Inborn genetic diseases ⚠
p.Pro568Ser Single submitter Joubert syndrome 25 ⚠
p.Pro745Ser Single submitter Inborn genetic diseases ⚠
p.Pro838Leu Single submitter Inborn genetic diseases ⚠
p.Pro846Leu Single submitter Joubert syndrome 25 ⚠
p.Pro883Arg Single submitter Inborn genetic diseases ⚠
p.Pro910Leu Single submitter Inborn genetic diseases ⚠
p.Ser191Pro Single submitter Inborn genetic diseases ⚠
p.Ser401Arg Single submitter Inborn genetic diseases ⚠
p.Ser401Gly Single submitter Inborn genetic diseases ⚠
p.Ser406Asn Single submitter Joubert syndrome 25 ⚠
p.Ser406Gly Single submitter Joubert syndrome 25 ⚠
p.Ser77Gly Single submitter Inborn genetic diseases ⚠
p.Ser77Thr Single submitter Inborn genetic diseases ⚠
p.Ser794Asn Single submitter Inborn genetic diseases ⚠
p.Ser79Thr Single submitter Inborn genetic diseases ⚠
p.Ser816Ile Single submitter Joubert syndrome 25 ⚠
p.Ser901Leu Single submitter Inborn genetic diseases ⚠
p.Ser905Gly Single submitter Inborn genetic diseases ⚠
p.Thr106Arg Single submitter ⚠
p.Thr163Pro Single submitter Joubert syndrome 25 ⚠
p.Thr655Ala Single submitter Inborn genetic diseases ⚠
p.Thr663Ile Single submitter Joubert syndrome 25 ⚠
p.Thr688Ile Single submitter Inborn genetic diseases ⚠
p.Thr796Met Single submitter Inborn genetic diseases ⚠
p.Thr870Met Single submitter Inborn genetic diseases ⚠
p.Thr921Met Single submitter Inborn genetic diseases ⚠
p.Tyr173Ser Single submitter Inborn genetic diseases ⚠
p.Tyr187Cys Single submitter Joubert syndrome 25 ⚠
p.Tyr379Cys Single submitter Joubert syndrome 25 ⚠
p.Tyr570His Single submitter Inborn genetic diseases ⚠
p.Tyr66Cys Single submitter Inborn genetic diseases ⚠
p.Tyr749Cys Single submitter Inborn genetic diseases ⚠
p.Tyr87Cys Single submitter Inborn genetic diseases ⚠
p.Tyr922Phe Single submitter ⚠
p.Tyr97Cys Single submitter Joubert syndrome 25 ⚠
p.Val10Ile Single submitter Inborn genetic diseases ⚠
p.Val116Ile Single submitter Joubert syndrome 25 ⚠
p.Val225Ala Single submitter Inborn genetic diseases ⚠
p.Val482Ile Single submitter Joubert syndrome 25 ⚠
p.Val485Ile Single submitter Joubert syndrome 25 ⚠
p.Val8Leu Single submitter Joubert syndrome 25 ⚠
p.Val98Met Single submitter Inborn genetic diseases ⚠
p.Arg543His No assertion criteria CEP104-related disorder ⚠
p.Tyr284Ter No assertion criteria