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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Cerebellar Diseases (D002526)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Joubert syndrome 2 (C536294)
Child Nodes:
Sister Nodes:
..Baraitser Rodeck Garner syndrome (C537906)
..Brachymesomelia renal syndrome (C537096)
..Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..Cystic Kidney Disease with Ventriculomegaly (C565657)
..Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..Joubert syndrome 1 (C536293)
..Joubert syndrome 2 (C536294)
..Joubert syndrome 4 (C536296)
..Joubert Syndrome 7 (C566916)
..Medullary Sponge Kidney (D007691) 1
..Multicystic Dysplastic Kidney (D021782) 2
..NEPHRONOPHTHISIS 11 (OMIM:613550)
..NEPHRONOPHTHISIS 12 (OMIM:613820)
..NEPHRONOPHTHISIS 14 (OMIM:614844)
..NEPHRONOPHTHISIS 15 (OMIM:614845)
..NEPHRONOPHTHISIS 16 (OMIM:615382)
..NEPHRONOPHTHISIS 18 (OMIM:615862)
..NEPHRONOPHTHISIS 19 (OMIM:616217)
..Nephronophthisis 2 (C566582)
..NEPHRONOPHTHISIS 20 (OMIM:617271)
..Nephronophthisis 3 (C565780)
..Nephronophthisis 4 (C564640)
..Nephronophthisis 7 (C566930)
..NEPHRONOPHTHISIS 9 (OMIM:613824)
..Nephronophthisis, familial juvenile (C537699)
..Polycystic Kidney Diseases (D007690) 21
..Renal cysts and diabetes syndrome (C535520)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Senior Loken Syndrome (C537580)
..Senior-Loken Syndrome 3 (C564637)
..Senior-Loken syndrome 4 (C537581)
..Senior-Loken Syndrome 5 (C563763)
..Senior-Loken Syndrome 6 (C565708)
..Situs inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..Tsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..Ulnar 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 :
Genes: TMEM216;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0012211	Abnormal renal physiology
3	HP:0000617	Abnormality of ocular smooth pursuit
4	HP:0000570	Abnormality of saccadic eye movements
5	HP:0001273	Abnormality of the corpus callosum
6	HP:0001760	Abnormality of the foot
7	HP:0002335	Agenesis of cerebellar vermis
8	HP:0001251	Ataxia
9	HP:0002508	Brainstem dysplasia
10	HP:0002871	Central apnea
11	HP:0000567	Chorioretinal coloboma
12	HP:0005280	Depressed nasal bridge
13	HP:0000268	Dolichocephaly
14	HP:0002195	Dysgenesis of the cerebellar vermis
15	HP:0011933	Elongated superior cerebellar peduncle
16	HP:0002084	Encephalocele
17	HP:0100951	Enlarged fossa interpeduncularis
18	HP:0002876	Episodic tachypnea
19	HP:0000565	Esotropia
20	HP:0001508	Failure to thrive
21	HP:0002007	Frontal bossing
22	HP:0001290	Generalized hypotonia
23	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
24	HP:0001263	Global developmental delay NAMDC: Mental retardation
25	HP:0001425	Heterogeneous
26	HP:0000218	High palate
27	HP:0000238	Hydrocephalus
28	HP:0000316	Hypertelorism
29	HP:0002365	Hypoplasia of the brainstem
30	HP:0000050	Hypoplastic male external genitalia
31	HP:0007772	Impaired smooth pursuit
32	HP:0001249	Intellectual disability
33	HP:0000369	Low-set ears
34	HP:0000256	Macrocephaly
35	HP:0000568	Microphthalmia
36	HP:0002419	Molar tooth sign on MRI
37	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
38	HP:0002790	Neonatal breathing dysregulation
39	HP:0000090	Nephronophthisis
40	HP:0000639	Nystagmus
41	HP:0000657	Oculomotor apraxia
42	HP:0000588	Optic nerve coloboma
43	HP:0003812	Phenotypic variability
44	HP:0001162	Postaxial hand polydactyly
45	HP:0000107	Renal cyst
46	HP:0000556	Retinal dystrophy
47	HP:0002404	Thickened superior cerebellar peduncle
48	HP:0000505	Visual impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001173990.2(TMEM216):c.-285A>G	51259	TMEM216	Uncertain significance	rs139151563	RCV001104747\|RCV001104748;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61159819	61159819	11:g.61159819A>G	-
NM_001173990.2(TMEM216):c.-264C>T	51259	TMEM216	Uncertain significance	rs1365742655	RCV001104750\|RCV001104749;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61159840	61159840	11:g.61159840C>T	-
NM_001173990.2(TMEM216):c.-242C>T	51259	TMEM216	Uncertain significance	rs756981776	RCV000362972\|RCV000403982;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61159862	61159862	NC_000011.9:g.61159862C>T	ClinGen:CA10638809	C0431399 Joubert syndrome;
NM_001173990.2(TMEM216):c.-135T>C	51259	TMEM216	Conflicting interpretations of pathogenicity	rs183785901	RCV000309701\|RCV000359657;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61159969	61159969	NC_000011.9:g.61159969T>C	ClinGen:CA10635095	C0431399 Joubert syndrome;
NM_001173990.2(TMEM216):c.-128A>C	51259	TMEM216	Uncertain significance	rs886048411	RCV000265047\|RCV000324396;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61159976	61159976	NC_000011.9:g.61159976A>C	ClinGen:CA10635097	C0431399 Joubert syndrome;
NM_001173990.2(TMEM216):c.-91G>A	51259	TMEM216	Conflicting interpretations of pathogenicity	rs557559653	RCV000261060\|RCV000360401;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61160013	61160013	NC_000011.9:g.61160013G>A	ClinGen:CA10635101	C0431399 Joubert syndrome;
NM_001173990.2(TMEM216):c.-86G>A	51259	TMEM216	Conflicting interpretations of pathogenicity	rs188478638	RCV001105886\|RCV001108138;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61160018	61160018	11:g.61160018G>A	-
NM_001173990.3(TMEM216):c.-24C>G	51259	TMEM216	Benign/Likely benign	rs59493015	RCV000243450\|RCV000316319\|RCV000375611;	N	MedGen:CN169374\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61160080	61160080	11:g.61160080C>G	ClinGen:CA6034686	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.-24C>T	51259	TMEM216	Conflicting interpretations of pathogenicity	rs59493015	RCV000281341\|RCV000331705\|RCV000444282;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MedGen:CN169374	11	61160080	61160080	NC_000011.9:g.61160080C>T	ClinGen:CA6034687	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.-9_11del (p.Met1fs)	51259	TMEM216	Uncertain significance	rs1554972400	RCV001787346;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61160094	61160113	11:g.61160094_61160113del	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.1A>G (p.Met1Val)	51259	TMEM216	Uncertain significance	rs1287246452	RCV001787348;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61160104	61160104	11:g.61160104A>G	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.2T>A (p.Met1Lys)	51259	TMEM216	Uncertain significance	rs1554972406	RCV001787344\|RCV002531310;	N	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:PS213300, Orphanet	11	61160105	61160105	11:g.61160105T>A	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.2T>C (p.Met1Thr)	51259	TMEM216	Uncertain significance	rs1554972406	RCV001787347;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61160105	61160105	11:g.61160105T>C	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.7C>A (p.Pro3Thr)	51259	TMEM216	Uncertain significance	rs1554972409	RCV000523528\|RCV001275256\|RCV001858034;	N	MedGen: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:475	11	61160110	61160110	11:g.61160110C>A	ClinGen:CA380684466	CN169374 not specified;
NM_001173990.3(TMEM216):c.11G>A (p.Arg4Gln)	51259	TMEM216	Uncertain significance	rs548299486	RCV001060316\|RCV001275257;	N	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	11	61160114	61160114	11:g.61160114G>A	-
NM_001173990.3(TMEM216):c.26C>T (p.Ala9Val)	51259	TMEM216	Uncertain significance	rs1441727203	RCV001279268\|RCV002542923;	N	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:475	11	61160129	61160129	11:g.61160129C>T	-
NM_001173990.3(TMEM216):c.34+2T>C	51259	TMEM216	Likely pathogenic	rs1057517498	RCV000409881\|RCV000411402\|RCV001053497\|RCV002502435;	N	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:PS213300, Orphanet	11	61160139	61160139	11:g.61160139T>C	ClinGen:CA16041469	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.34+18_34+21del	51259	TMEM216	Likely benign	rs940443692	RCV001475886\|RCV001787339;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:	11	61160152	61160155	11:g.61160152_61160155del	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.35-17C>T	51259	TMEM216	Benign/Likely benign	rs147953784	RCV000253857\|RCV000514311\|RCV001514461\|RCV001538028\|RCV001538029;	N	MedGen: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,MedG	11	61160686	61160686	11:g.61160686C>T	ClinGen:CA6034695	CN517202 not provided;
NM_001173990.3(TMEM216):c.35-13_36del	51259	TMEM216	Likely pathogenic	rs1057520085	RCV000436026\|RCV001828393\|RCV001851024;	N	MedGen: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:475	11	61160688	61160702	NC_000011.9:g.61160690_61160704del	ClinGen:CA16603206	CN517202 not provided;
NM_001173990.3(TMEM216):c.35-2A>G	51259	TMEM216	Likely pathogenic	rs1057517528	RCV000409368\|RCV000410496\|RCV002524628;	N	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:PS213300, Orphanet	11	61160701	61160701	NC_000011.9:g.61160701A>G	ClinGen:CA16041470	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.40C>T (p.Arg14Trp)	51259	TMEM216	Uncertain significance	rs528271337	RCV001063189\|RCV001833617;	N	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	11	61160708	61160708	11:g.61160708C>T	-
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=)	51259	TMEM216	Conflicting interpretations of pathogenicity	rs769285695	RCV000735031\|RCV001102917\|RCV001102918\|RCV001496135;	N	MedGen: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:P	11	61160725	61160725	NC_000011.9:g.61160725G>T	-
NM_001173990.3(TMEM216):c.113A>G (p.Glu38Gly)	51259	TMEM216	Uncertain significance	rs568253718	RCV001239619\|RCV000733750\|RCV001279269;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MedGen:CN517202\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61160781	61160781	NC_000011.9:g.61160781A>G	-
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=)	51259	TMEM216	Conflicting interpretations of pathogenicity	rs900061092	RCV000598481\|RCV001088496\|RCV001276405;	N	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	11	61160791	61160791	11:g.61160791A>T	ClinGen:CA222895126	CN169374 not specified;
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=)	51259	TMEM216	Likely benign	rs900061092	RCV000869321\|RCV001276404;	N	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	11	61160791	61160791	11:g.61160791A>C	-
NM_001173990.3(TMEM216):c.137-7T>C	51259	TMEM216	Uncertain significance	rs1554972545	RCV001279270;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61161349	61161349	11:g.61161349T>C	-
NM_001173990.3(TMEM216):c.137-1G>A	51259	TMEM216	Likely pathogenic	rs1554972547	RCV000810263\|RCV001787350;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:	11	61161355	61161355	NC_000011.9:g.61161355G>A	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala)	51259	TMEM216	Uncertain significance	rs762918371	RCV000291175\|RCV000345935\|RCV000401686\|RCV001240998\|RCV001788191;	N	MONDO: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:P	11	61161359	61161359	11:g.61161359T>C	ClinGen:CA6034711	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)	51259	TMEM216	Likely pathogenic	rs1554972556	RCV001787340;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61161380	61161384	11:g.61161380_61161384del	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu)	51259	TMEM216	Conflicting interpretations of pathogenicity	rs57932685	RCV000177125\|RCV000533045\|RCV001279272;	N	MedGen: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:2318	11	61161430	61161430	11:g.61161430G>T	ClinGen:CA202293	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)	51259	TMEM216	Conflicting interpretations of pathogenicity	rs541666319	RCV000201571\|RCV000869264\|RCV002282037;	N	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:475\|MedGen:CN169374	11	61161435	61161435	NC_000011.9:g.61161435T>C	ClinGen:CA277707	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)	51259	TMEM216	Conflicting interpretations of pathogenicity	rs779526456	RCV000201742\|RCV000595708\|RCV001053459\|RCV001814113;	N	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:PS213300, Orphanet:475\|Human Phenotype Ontology:HP:0000707,Huma	11	61161436	61161436	NC_000011.9:g.61161436C>T	ClinGen:CA277803,UniProtKB:Q9P0N5#VAR_064028	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)	51259	TMEM216	Pathogenic	rs201108965	RCV000000220\|RCV000255378\|RCV000409114\|RCV000465185\|RCV000624413\|RCV000779066\|RCV001787358;	Y	MONDO: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:P	11	61161437	61161437	11:g.61161437G>T	ClinGen:CA339800,UniProtKB:Q9P0N5#VAR_063388,OMIM:613277.0001	C0950123 Inborn genetic diseases;
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)	51259	TMEM216	Pathogenic	rs201108965	RCV000000221\|RCV000024013\|RCV001038780;	Y	MONDO: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, Orphanet	11	61161437	61161437	11:g.61161437G>A	ClinGen:CA129626,UniProtKB:Q9P0N5#VAR_064029,OMIM:613277.0002	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)	51259	TMEM216	Likely pathogenic	rs1057517512	RCV000411381\|RCV000412090\|RCV003129853;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MedGen:CN517202	11	61161441	61161441	11:g.61161441_61161441del	ClinGen:CA16041471	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)	51259	TMEM216	Pathogenic/Likely pathogenic	rs767384710	RCV000410198\|RCV000412190\|RCV002523886;	N	MONDO: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, Orphanet	11	61161441	61161442	NC_000011.9:g.61161447dup	ClinGen:CA6034724	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)	51259	TMEM216	Likely pathogenic	rs767384710	RCV000410191\|RCV000412251;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61161442	61161442	11:g.61161442_61161442del	ClinGen:CA16041472	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.229+10G>A	51259	TMEM216	Likely benign	rs1590642512	RCV001276406\|RCV000874031;	N	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:475	11	61161458	61161458	11:g.61161458G>A	-
NM_001173990.3(TMEM216):c.230-9dup	51259	TMEM216	Uncertain significance	rs1554972934	RCV001787349;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165236	61165237	11:g.61165236_61165237insG	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.230-10T>C	51259	TMEM216	Uncertain significance	rs1858829914	RCV001343165\|RCV001831093;	N	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	11	61165236	61165236	61165236	-
NM_001173990.3(TMEM216):c.230-2A>G	51259	TMEM216	Likely pathogenic	rs1211592806	RCV001235530\|RCV002480768;	N	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,MedGen:C1864148,OMIM:603194, Orphanet	11	61165244	61165244	11:g.61165244A>G	-
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)	51259	TMEM216	Pathogenic/Likely pathogenic	rs11230683	RCV000049797\|RCV000201650\|RCV000760437\|RCV000779067\|RCV000822982\|RCV001787335;	N	MONDO: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:	11	61165269	61165269	NC_000011.9:g.61165269C>T	ClinGen:CA144308	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.254G>A (p.Arg85Gln)	51259	TMEM216	Uncertain significance	rs368617773	RCV001055359\|RCV001275260;	N	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	11	61165270	61165270	11:g.61165270G>A	-
NM_001173990.3(TMEM216):c.277G>A (p.Val93Met)	51259	TMEM216	Uncertain significance	rs541257103	RCV000366908\|RCV001342994\|RCV001828263;	N	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	11	61165293	61165293	11:g.61165293G>A	ClinGen:CA6034740	CN169374 not specified;
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile)	51259	TMEM216	Uncertain significance	rs201614099	RCV000298370\|RCV000353228\|RCV000729079\|RCV001248133;	N	MONDO: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:P	11	61165305	61165305	NC_000011.9:g.61165305T>A	ClinGen:CA6034742	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.295T>C (p.Ser99Pro)	51259	TMEM216	Uncertain significance	rs1238443381	RCV001345889\|RCV001831119;	N	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	11	61165311	61165311	61165311	-
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)	51259	TMEM216	Likely pathogenic	rs1554972958	RCV001787351;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165332	61165333	11:g.61165332_61165333insTA	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=)	51259	TMEM216	Likely benign	rs528921796	RCV000869527\|RCV001276407;	N	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	11	61165340	61165340	11:g.61165340G>A	-
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)	51259	TMEM216	Likely pathogenic	rs147267631	RCV001787343;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165352	61165352	11:g.61165352C>A	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.336C>T (p.Tyr112=)	51259	TMEM216	Likely benign	rs147267631	RCV001279274\|RCV001427743;	N	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:475	11	61165352	61165352	11:g.61165352C>T	-
NM_001173990.3(TMEM216):c.338dup (p.Leu114fs)	51259	TMEM216	Uncertain significance	rs1554972964	RCV001787342;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165353	61165354	11:g.61165353_61165354insT	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.343C>T (p.Arg115Cys)	51259	TMEM216	Uncertain significance	rs774225426	RCV000591721\|RCV001246862\|RCV001834894;	N	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	11	61165359	61165359	11:g.61165359C>T	ClinGen:CA6034749	CN169374 not specified;
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His)	51259	TMEM216	Uncertain significance	rs752216307	RCV000263098\|RCV000299701\|RCV000733380\|RCV001246480\|RCV001269159\|RCV002520730;	N	MONDO: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:P	11	61165360	61165360	11:g.61165360G>A	ClinGen:CA6034750	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.359T>C (p.Met120Thr)	51259	TMEM216	Uncertain significance	rs367737418	RCV001245930\|RCV001835252\|RCV002568641;	N	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\|MeSH:D030342,MedGen:C0950123	11	61165375	61165375	11:g.61165375T>C	-
NM_001173990.3(TMEM216):c.382T>C (p.Cys128Arg)	51259	TMEM216	Uncertain significance	rs35314485	RCV001105983\|RCV001105984\|RCV002556083;	N	MONDO: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, Orphanet	11	61165398	61165398	11:g.61165398T>C	-
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)	51259	TMEM216	Pathogenic/Likely pathogenic	rs755459875	RCV000201555\|RCV000443367\|RCV001853240\|RCV002503792;	N	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:PS213300, Orphanet:475\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM	11	61165414	61165414	NC_000011.9:g.61165414T>G	ClinGen:CA277700	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=)	51259	TMEM216	Likely benign	rs748486939	RCV000470905\|RCV001828464;	N	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	11	61165421	61165421	NC_000011.9:g.61165421G>A	ClinGen:CA6034761	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.432-10delinsAC	51259	TMEM216	Uncertain significance	rs1554973021	RCV001787341;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165732	61165732	11:g.61165732_61165733insC	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.432-10_432-8delinsAGTG	51259	TMEM216	Uncertain significance	rs1554973024	RCV001787352;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165732	61165734	11:g.61165732_61165733insGTG	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.432-10delinsAA	51259	TMEM216	Uncertain significance	rs1554973021	RCV001787345;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564; MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165732	61165732	11:g.61165732_61165733insA	-	C1842577 608091 Joubert syndrome 2;
NM_001173990.3(TMEM216):c.*6A>G	51259	TMEM216	Uncertain significance	rs541341560	RCV000732958\|RCV001279276;	N	MedGen:CN517202\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165754	61165754	NC_000011.9:g.61165754A>G	-
NM_001173990.3(TMEM216):c.*21A>G	51259	TMEM216	Conflicting interpretations of pathogenicity	rs111371929	RCV000251656\|RCV000339313\|RCV000377550\|RCV001562156;	N	MedGen:CN169374\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MedGen:CN517202	11	61165769	61165769	NC_000011.9:g.61165769A>G	ClinGen:CA6034791	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*93T>C	51259	TMEM216	Uncertain significance	rs746881860	RCV000285439\|RCV000342631;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165841	61165841	11:g.61165841T>C	ClinGen:CA10631066	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*107G>T	51259	TMEM216	Uncertain significance	rs535550368	RCV000298280\|RCV000407111;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165855	61165855	11:g.61165855G>T	ClinGen:CA10638822	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*190A>G	51259	TMEM216	Uncertain significance	rs1858851501	RCV001103022\|RCV001108214;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61165938	61165938	11:g.61165938A>G	-
NM_001173990.3(TMEM216):c.*247C>T	51259	TMEM216	Uncertain significance	rs886048413	RCV000336824\|RCV000407101;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61165995	61165995	11:g.61165995C>T	ClinGen:CA10635105	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*303C>T	51259	TMEM216	Conflicting interpretations of pathogenicity	rs144613667	RCV001103024\|RCV001103023;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61166051	61166051	11:g.61166051C>T	-
NM_001173990.3(TMEM216):c.*335G>A	51259	TMEM216	Uncertain significance	rs886048414	RCV000310946\|RCV000367994;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61166083	61166083	11:g.61166083G>A	ClinGen:CA10638825	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*372C>T	51259	TMEM216	Uncertain significance	rs565159932	RCV000275848\|RCV000307238;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61166120	61166120	11:g.61166120C>T	ClinGen:CA10639461	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*377T>C	51259	TMEM216	Uncertain significance	rs1260385076	RCV001104925\|RCV001104924;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61166125	61166125	11:g.61166125T>C	-
NM_001173990.3(TMEM216):c.*393C>T	51259	TMEM216	Uncertain significance	rs1858858010	RCV001104926\|RCV001104927;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61166141	61166141	11:g.61166141C>T	-
NM_001173990.3(TMEM216):c.*444T>C	51259	TMEM216	Benign/Likely benign	rs116047887	RCV000271901\|RCV000364203\|RCV001690011;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MedGen:CN517202	11	61166192	61166192	NC_000011.9:g.61166192T>C	ClinGen:CA10638828	C0431399 Joubert syndrome;
NM_001173990.3(TMEM216):c.*525T>G	51259	TMEM216	Uncertain significance	rs982189283	RCV001104928\|RCV001106091;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61166273	61166273	11:g.61166273T>G	-
NM_001173990.3(TMEM216):c.*548T>A	51259	TMEM216	Uncertain significance	rs1858863107	RCV001106092\|RCV001106093;	N	MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564\|MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318	11	61166296	61166296	11:g.61166296T>A	-
NM_001173990.3(TMEM216):c.*558G>A	51259	TMEM216	Benign	rs7607	RCV000329368\|RCV000377140;	N	MONDO:MONDO:0011963,MedGen:C1842577,OMIM:608091, Orphanet:2318\|MONDO:MONDO:0011296,MedGen:C1864148,OMIM:603194, Orphanet:564	11	61166306	61166306	NC_000011.9:g.61166306G>A	ClinGen:CA10631070	C0431399 Joubert syndrome;

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