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Cerebellar Diseases (D002526)
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Joubert syndrome 2 (C536294)

       Child Nodes:



 Sister Nodes: 
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandBrachymesomelia renal syndrome (C537096)
..expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..expandCystic Kidney Disease with Ventriculomegaly (C565657)
..expandGlomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert syndrome 4 (C536296)
..expandJoubert Syndrome 7 (C566916)
..expandMedullary Sponge Kidney (D007691) Child1
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandNEPHRONOPHTHISIS 11 (OMIM:613550)
..expandNEPHRONOPHTHISIS 12 (OMIM:613820)
..expandNEPHRONOPHTHISIS 14 (OMIM:614844)
..expandNEPHRONOPHTHISIS 15 (OMIM:614845)
..expandNEPHRONOPHTHISIS 16 (OMIM:615382)
..expandNEPHRONOPHTHISIS 18 (OMIM:615862)
..expandNEPHRONOPHTHISIS 19 (OMIM:616217)
..expandNephronophthisis 2 (C566582)
..expandNEPHRONOPHTHISIS 20 (OMIM:617271)
..expandNephronophthisis 3 (C565780)
..expandNephronophthisis 4 (C564640)
..expandNephronophthisis 7 (C566930)
..expandNEPHRONOPHTHISIS 9 (OMIM:613824)
..expandNephronophthisis, familial juvenile (C537699)
..expandPolycystic Kidney Diseases (D007690) Child21
..expandRenal cysts and diabetes syndrome (C535520)
..expandRENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken syndrome 4 (C537581)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSitus inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..expandTsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..expandUlnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6562
Name:Joubert syndrome 2
Definition:
Alternative IDs:DO:DOID:0110988|OMIM:608091
ParentIDs:MESH:D002526|MESH:D005124|MESH:D052177
TreeNumbers:C10.228.140.252/C536294 |C11.250/C536294 |C12.777.419.403/C536294 |C13.351.968.419.403/C536294 |C16.131.384/C536294
Synonyms:Cerebellooculorenal syndrome 2 |CORS2 |JBTS2
Slim Mappings:Congenital abnormality|Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C536294
MeSH: C536294
OMIM: 608091;
MSeqDR LSDB:  
Genes: TMEM216;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0012211Abnormal renal physiology
3 HP:0000617Abnormality of ocular smooth pursuit
4 HP:0000570Abnormality of saccadic eye movements
5 HP:0001273Abnormality of the corpus callosum
6 HP:0001760Abnormality of the foot
7 HP:0002335Agenesis of cerebellar vermis
8 HP:0001251Ataxia
9 HP:0002508Brainstem dysplasia
10 HP:0002871Central apnea
11 HP:0000567Chorioretinal coloboma
12 HP:0005280Depressed nasal bridge
13 HP:0000268Dolichocephaly
14 HP:0002195Dysgenesis of the cerebellar vermis
15 HP:0011933Elongated superior cerebellar peduncle
16 HP:0002084Encephalocele
17 HP:0100951Enlarged fossa interpeduncularis
18 HP:0002876Episodic tachypnea
19 HP:0000565Esotropia
20 HP:0001508Failure to thrive
21 HP:0002007Frontal bossing
22 HP:0001290Generalized hypotonia
23 HP:0001263Global developmental delay
NAMDC:  Mental retardation
24 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
25 HP:0001425Heterogeneous
26 HP:0000218High palate
27 HP:0000238Hydrocephalus
28 HP:0000316Hypertelorism
29 HP:0002365Hypoplasia of the brainstem
30 HP:0000050Hypoplastic male external genitalia
31 HP:0007772Impaired smooth pursuit
32 HP:0001249Intellectual disability
33 HP:0000369Low-set ears
34 HP:0000256Macrocephaly
35 HP:0000568Microphthalmia
36 HP:0002419Molar tooth sign on MRI
37 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
38 HP:0002790Neonatal breathing dysregulation
39 HP:0000090Nephronophthisis
40 HP:0000639Nystagmus
41 HP:0000657Oculomotor apraxia
42 HP:0000588Optic nerve coloboma
43 HP:0003812Phenotypic variability
44 HP:0001162Postaxial hand polydactyly
45 HP:0000107Renal cyst
46 HP:0000556Retinal dystrophy
47 HP:0002404Thickened superior cerebellar peduncle
48 HP:0000505Visual impairment
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000011.10:g.61392347A>G51259TMEM216Uncertain significancers139151563RCV001104747|RCV001104748; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116115981961159819AG11:g.61159819A>G-
NM_001173991.2(TMEM216):c.-264C>T51259TMEM216Uncertain significancers1365742655RCV001104749|RCV001104750; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116115984061159840CT11:g.61159840C>T-
NM_001173991.2(TMEM216):c.-242C>T51259TMEM216Uncertain significancers756981776RCV000362972|RCV000403982; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116115986261159862CTNC_000011.9:g.61159862C>TClinGen:CA10638809C0431399 Joubert syndrome;
NM_016499.5(TMEM216):c.-332T>C51259TMEM216Conflicting interpretations of pathogenicityrs183785901RCV000309701|RCV000359657; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116115996961159969TCNC_000011.9:g.61159969T>CClinGen:CA10635095C0431399 Joubert syndrome;
NM_016499.5(TMEM216):c.-325A>C51259TMEM216Uncertain significancers886048411RCV000265047|RCV000324396; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116115997661159976ACNC_000011.9:g.61159976A>CClinGen:CA10635097C0431399 Joubert syndrome;
NM_016499.5(TMEM216):c.-288G>A51259TMEM216Conflicting interpretations of pathogenicityrs557559653RCV000261060|RCV000360401; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116001361160013GANC_000011.9:g.61160013G>AClinGen:CA10635101C0431399 Joubert syndrome;
NM_016499.5(TMEM216):c.-283G>A51259TMEM216Conflicting interpretations of pathogenicityrs188478638RCV001105886|RCV001108138; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116001861160018GA11:g.61160018G>A-
NM_001173990.3(TMEM216):c.-24C>G51259TMEM216Benign/Likely benignrs59493015RCV000243450|RCV000316319|RCV000375611; NMedGen:CN169374|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116008061160080CG11:g.61160080C>GClinGen:CA6034686C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.-24C>T51259TMEM216Conflicting interpretations of pathogenicityrs59493015RCV000281341|RCV000331705|RCV000444282; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MedGen:CN169374116116008061160080CTNC_000011.9:g.61160080C>TClinGen:CA6034687C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)51259TMEM216Uncertain significancers1554972400RCV001787346; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116009461160113TGTGGCAGCGTATGCTGCCACT11:g.61160094_61160113del-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)51259TMEM216Uncertain significancers1287246452RCV001787348; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116010461160104AG11:g.61160104A>G-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)51259TMEM216Uncertain significancers1554972406RCV001787344; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116010561160105TA11:g.61160105T>A-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)51259TMEM216Uncertain significancers1554972406RCV001787347; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116010561160105TC11:g.61160105T>C-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)51259TMEM216Uncertain significancers1554972409RCV000523528|RCV001275256|RCV001858034; NMedGen:CN517202|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475116116011061160110CA11:g.61160110C>AClinGen:CA380684466CN169374 not specified;
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)51259TMEM216Uncertain significancers548299486RCV001060316|RCV001275257; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116011461160114GA11:g.61160114G>A-
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)51259TMEM216Uncertain significancers1441727203RCV001279268; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116012961160129CT11:g.61160129C>T-
NM_001173990.3(TMEM216):c.34+2T>C51259TMEM216Likely pathogenicrs1057517498RCV000409881|RCV000411402|RCV001053497; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet116116013961160139TC11:g.61160139T>CClinGen:CA16041469C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.34+18_34+21del51259TMEM216Likely benignrs940443692RCV001475886|RCV001787339; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet116116015261160155GGTGTG11:g.61160152_61160155del-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.35-17C>T51259TMEM216Benign/Likely benignrs147953784RCV000253857|RCV000514311|RCV001514461|RCV001538028|RCV001538029; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedG116116068661160686CT11:g.61160686C>TClinGen:CA6034695CN517202 not provided;
NM_001173990.3(TMEM216):c.35-13_36del51259TMEM216Likely pathogenicrs1057520085RCV000436026|RCV001828393|RCV001851024; NMedGen:CN517202|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475116116068861160702TGTGCTCCTTTTTCAGTNC_000011.9:g.61160690_61160704delClinGen:CA16603206CN517202 not provided;
NM_001173990.3(TMEM216):c.35-2A>G51259TMEM216Likely pathogenicrs1057517528RCV000410496|RCV000409368; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116070161160701AGNC_000011.9:g.61160701A>GClinGen:CA16041470C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)51259TMEM216Uncertain significancers528271337RCV001063189|RCV001833617; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116070861160708CT11:g.61160708C>T-
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)51259TMEM216Conflicting interpretations of pathogenicityrs769285695RCV000735031|RCV001102917|RCV001102918|RCV001496135; NMedGen:CN517202|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:P116116072561160725GTNC_000011.9:g.61160725G>T-
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)51259TMEM216Uncertain significancers568253718RCV000733750|RCV001239619|RCV001279269; NMedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116078161160781AGNC_000011.9:g.61160781A>G-
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)51259TMEM216Conflicting interpretations of pathogenicityrs900061092RCV000598481|RCV001088496|RCV001276405; NMedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116079161160791AT11:g.61160791A>TClinGen:CA222895126CN169374 not specified;
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)51259TMEM216Likely benignrs900061092RCV000869321|RCV001276404; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116079161160791AC11:g.61160791A>C-
NM_001173990.3(TMEM216):c.137-7T>C51259TMEM216Uncertain significancers1554972545RCV001279270; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116134961161349TC11:g.61161349T>C-
NM_001173990.3(TMEM216):c.137-1G>A51259TMEM216Likely pathogenicrs1554972547RCV000810263|RCV001787350; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet116116135561161355GANC_000011.9:g.61161355G>A-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)51259TMEM216Uncertain significancers762918371RCV000291175|RCV000345935|RCV000401686|RCV001240998|RCV001788191; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:P116116135961161359TC11:g.61161359T>CClinGen:CA6034711C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)51259TMEM216Likely pathogenicrs1554972556RCV001787340; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116138061161384GCTAACG11:g.61161380_61161384del-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)51259TMEM216Conflicting interpretations of pathogenicityrs57932685RCV000177125|RCV000533045|RCV001279272; NMedGen:CN169374|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116143061161430GT11:g.61161430G>TClinGen:CA202293C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)51259TMEM216Conflicting interpretations of pathogenicityrs541666319RCV000201571|RCV000869264; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475116116143561161435TCNC_000011.9:g.61161435T>CClinGen:CA277707C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)51259TMEM216Conflicting interpretations of pathogenicityrs779526456RCV000201742|RCV000595708|RCV001053459|RCV001814113; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|Human Phenotype Ontology:HP:0000707,Huma116116143661161436CTNC_000011.9:g.61161436C>TClinGen:CA277803,UniProtKB:Q9P0N5#VAR_064028C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)51259TMEM216Pathogenic/Likely pathogenicrs201108965RCV000000220|RCV000255378|RCV000409114|RCV000465185|RCV000624413|RCV000779066|RCV001787358; YMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MedGen:CN517202|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:P116116143761161437GT11:g.61161437G>TClinGen:CA339800,UniProtKB:Q9P0N5#VAR_063388,OMIM:613277.0001C0950123 Inborn genetic diseases;
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)51259TMEM216Pathogenicrs201108965RCV000000221|RCV000024013|RCV001038780|RCV001781150; YMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet116116143761161437GA11:g.61161437G>AClinGen:CA129626,UniProtKB:Q9P0N5#VAR_064029,OMIM:613277.0002C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)51259TMEM216Likely pathogenicrs1057517512RCV000411381|RCV000412090; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116144161161441TGT11:g.61161441_61161441delClinGen:CA16041471C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)51259TMEM216Likely pathogenicrs767384710RCV000410198|RCV000412190; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116144161161442GGTNC_000011.9:g.61161447dupClinGen:CA6034724C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)51259TMEM216Likely pathogenicrs767384710RCV000410191|RCV000412251; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116144261161442GTG11:g.61161442_61161442delClinGen:CA16041472C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.229+10G>A51259TMEM216Likely benignrs1590642512RCV000874031|RCV001276406; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116145861161458GA11:g.61161458G>A-
NM_001173990.3(TMEM216):c.230-9dup51259TMEM216Uncertain significancers1554972934RCV001787349; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116523661165237TTG11:g.61165236_61165237insG-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.230-10T>C51259TMEM216Uncertain significancers1858829914RCV001343165|RCV001831093; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116523661165236TC61165236-
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)51259TMEM216Pathogenic/Likely pathogenicrs11230683RCV000049797|RCV000201650|RCV000779067|RCV000760437|RCV000822982|RCV001787335; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318||MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:116116526961165269CTNC_000011.9:g.61165269C>TClinGen:CA144308C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)51259TMEM216Benign/Likely benignrs11230683RCV000353548|RCV000514241|RCV001084421|RCV001102920|RCV001102919; NMedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedG116116526961165269CA11:g.61165269C>AClinGen:CA6034732C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)51259TMEM216Uncertain significancers368617773RCV001055359|RCV001275260; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116527061165270GA11:g.61165270G>A-
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)51259TMEM216Uncertain significancers541257103RCV000366908|RCV001342994|RCV001828263; NMedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116529361165293GA11:g.61165293G>AClinGen:CA6034740CN169374 not specified;
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)51259TMEM216Uncertain significancers201614099RCV000298370|RCV000353228|RCV000729079|RCV001248133; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:P116116530561165305TANC_000011.9:g.61165305T>AClinGen:CA6034742C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)51259TMEM216Uncertain significancers1238443381RCV001345889|RCV001831119; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116531161165311TC61165311-
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)51259TMEM216Likely pathogenicrs1554972958RCV001787351; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116533261165333TTTA11:g.61165332_61165333insTA-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)51259TMEM216Likely benignrs528921796RCV000869527|RCV001276407; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116534061165340GA11:g.61165340G>A-
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)51259TMEM216Likely pathogenicrs147267631RCV001787343; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116535261165352CA11:g.61165352C>A-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)51259TMEM216Likely benignrs147267631RCV001279274|RCV001427743; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475116116535261165352CT11:g.61165352C>T-
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)51259TMEM216Uncertain significancers1554972964RCV001787342; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116535361165354GGT11:g.61165353_61165354insT-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)51259TMEM216Uncertain significancers774225426RCV000591721|RCV001246862|RCV001834894; NMedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116535961165359CT11:g.61165359C>TClinGen:CA6034749CN169374 not specified;
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)51259TMEM216Uncertain significancers752216307RCV000263098|RCV000299701|RCV000733380|RCV001246480|RCV001269159; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:P116116536061165360GA11:g.61165360G>AClinGen:CA6034750C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)51259TMEM216Uncertain significancers367737418RCV001245930|RCV001835252; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116537561165375TC11:g.61165375T>C-
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)51259TMEM216Uncertain significancers35314485RCV001105983|RCV001105984; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116539861165398TC11:g.61165398T>C-
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)51259TMEM216Pathogenic/Likely pathogenicrs755459875RCV000201555|RCV000443367|RCV001853240; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475116116541461165414TGNC_000011.9:g.61165414T>GClinGen:CA277700C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)51259TMEM216Likely benignrs748486939RCV000470905|RCV001828464; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116542161165421GANC_000011.9:g.61165421G>AClinGen:CA6034761C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.432-10delinsAC51259TMEM216Uncertain significancers1554973021RCV001787341; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116573261165732GAC11:g.61165732_61165733insC-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG51259TMEM216Uncertain significancers1554973024RCV001787352; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116573261165734GTAAGTG11:g.61165732_61165733insGTG-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.432-10delinsAA51259TMEM216Uncertain significancers1554973021RCV001787345; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318; MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116573261165732GAA11:g.61165732_61165733insA-C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.*6A>G51259TMEM216Uncertain significancers541341560RCV000732958|RCV001279276; NMedGen:CN517202|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116575461165754AGNC_000011.9:g.61165754A>G-
NM_001173990.3(TMEM216):c.*21A>G51259TMEM216Conflicting interpretations of pathogenicityrs111371929RCV000251656|RCV000339313|RCV000377550|RCV001562156; NMedGen:CN169374|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MedGen:CN517202116116576961165769AGNC_000011.9:g.61165769A>GClinGen:CA6034791C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*93T>C51259TMEM216Uncertain significancers746881860RCV000285439|RCV000342631; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116584161165841TC11:g.61165841T>CClinGen:CA10631066C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*107G>T51259TMEM216Uncertain significancers535550368RCV000298280|RCV000407111; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116585561165855GT11:g.61165855G>TClinGen:CA10638822C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*190A>G51259TMEM216Uncertain significancers1858851501RCV001103022|RCV001108214; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116593861165938AG11:g.61165938A>G-
NM_001173990.3(TMEM216):c.*247C>T51259TMEM216Uncertain significancers886048413RCV000336824|RCV000407101; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116599561165995CT11:g.61165995C>TClinGen:CA10635105C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*303C>T51259TMEM216Conflicting interpretations of pathogenicityrs144613667RCV001103024|RCV001103023; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116605161166051CT11:g.61166051C>T-
NM_001173990.3(TMEM216):c.*335G>A51259TMEM216Uncertain significancers886048414RCV000310946|RCV000367994; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116608361166083GA11:g.61166083G>AClinGen:CA10638825C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*372C>T51259TMEM216Uncertain significancers565159932RCV000275848|RCV000307238; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116612061166120CT11:g.61166120C>TClinGen:CA10639461C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*377T>C51259TMEM216Uncertain significancers1260385076RCV001104924|RCV001104925; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116612561166125TC11:g.61166125T>C-
NM_001173990.3(TMEM216):c.*393C>T51259TMEM216Uncertain significancers1858858010RCV001104926|RCV001104927; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116614161166141CT11:g.61166141C>T-
NM_001173990.3(TMEM216):c.*444T>C51259TMEM216Benign/Likely benignrs116047887RCV000271901|RCV000364203|RCV001690011; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MedGen:CN517202116116619261166192TCNC_000011.9:g.61166192T>CClinGen:CA10638828C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*525T>G51259TMEM216Uncertain significancers982189283RCV001104928|RCV001106091; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116627361166273TG11:g.61166273T>G-
NM_001173990.3(TMEM216):c.*548T>A51259TMEM216Uncertain significancers1858863107RCV001106092|RCV001106093; NMONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318116116629661166296TA11:g.61166296T>A-
NM_001173990.3(TMEM216):c.*558G>A51259TMEM216Benignrs7607RCV000329368|RCV000377140; NMONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564116116630661166306GANC_000011.9:g.61166306G>AClinGen:CA10631070C0431399 Joubert syndrome;
MSeqDR Portal