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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cerebellar Diseases (D002526)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Kidney Diseases, Cystic (D052177)
..Starting node ..Joubert syndrome 1 (C536293)
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 2 (C566582)
..Nephronophthisis 3 (C565780)
..Nephronophthisis 4 (C564640)
..Nephronophthisis 7 (C566930)
..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, CTD

Term ID:

5980

Name:

Joubert syndrome 1

Definition:

Alternative IDs:

OMIM:213300

ParentIDs:

MESH:D002526|MESH:D005124|MESH:D052177

TreeNumbers:

C10.228.140.252/C536293 |C11.250/C536293 |C12.777.419.403/C536293 |C13.351.968.419.403/C536293 |C16.131.384/C536293

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)

Reference:

MedGen: C536293
MeSH: C536293
OMIM: 213300;

Genes: INPP5E;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001760	Abnormal foot morphology
3	HP:0000570	Abnormal saccadic eye movements
4	HP:0000617	Abnormality of ocular smooth pursuit
5	HP:0002335	Agenesis of cerebellar vermis
6	HP:0000718	Aggressive behavior
7	HP:0000463	Anteverted nares
8	HP:0001251	Ataxia
9	HP:0002508	Brainstem dysplasia
10	HP:0002871	Central apnea
11	HP:0001320	Cerebellar vermis hypoplasia
12	HP:0000567	Chorioretinal coloboma
13	HP:0002195	Dysgenesis of the cerebellar vermis
14	HP:0011933	Elongated superior cerebellar peduncle
15	HP:0100951	Enlarged fossa interpeduncularis
16	HP:0000286	Epicanthus
17	HP:0002876	Episodic tachypnea
18	HP:0001290	Generalized hypotonia
19	HP:0001263	Global developmental delay
20	HP:0010828	Hemifacial spasm
21	HP:0001395	Hepatic fibrosis
22	HP:0001425	Heterogeneous
23	HP:0002553	Highly arched eyebrow
24	HP:0000752	Hyperactivity
25	HP:0002365	Hypoplasia of the brainstem
26	HP:0001252	Hypotonia
27	HP:0007772	Impaired smooth pursuit
28	HP:0001249	Intellectual disability
29	HP:0000369	Low-set ears
30	HP:0000256	Macrocephaly
31	HP:0000158	Macroglossia
32	HP:0002419	Molar tooth sign on MRI
33	HP:0002790	Neonatal breathing dysregulation
34	HP:0007271	Occipital myelomeningocele	HP:0040283
35	HP:0000657	Oculomotor apraxia
36	HP:0000588	Optic disc coloboma
37	HP:0003812	Phenotypic variability
38	HP:0001162	Postaxial hand polydactyly
39	HP:0011220	Prominent forehead
40	HP:0010808	Protruding tongue
41	HP:0000508	Ptosis
42	HP:0000107	Renal cyst	HP:0040283
43	HP:0007973	Retinal dysplasia	HP:0040283
44	HP:0000556	Retinal dystrophy
45	HP:0000742	Self-mutilation
46	HP:0200096	Triangular-shaped open mouth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_017651.4(AHI1):c.3589-5T>C	54806	AHI1	Likely benign	864622110	RCV000204307;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	6	135606790	135606790	NM_017651.4:c.3589-5T>C		NC_000006.11:g.135606790A>G	-	C0431399 213300 Familial aplasia of the vermis
NM_017651.4(AHI1):c.3418C>T (p.Pro1140Ser)	54806	AHI1	Uncertain significance	201148693	RCV000195696;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	6	135639665	135639665	NM_017651.4:c.3418C>T	NP_060121.3:p.Pro1140Ser	NC_000006.11:g.135639665G>A	-	C0431399 213300 Familial aplasia of the vermis
NM_017651.4(AHI1):c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAA	54806	AHI1	Likely benign;Uncertain significance	786200964	RCV000202423; RCV000152761;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN221809	6	135732465	135732479	NM_017651.4:c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAA		NC_000006.11:g.135732465_135732479delAACTGCATAAAATAAinsTTTAAAACTTTAAAAAAGTC	-	C0431399 213300 Familial aplasia of the vermis; CN221809 not provided
NM_017651.4(AHI1):c.2961+9A>T	54806	AHI1	Likely benign	201870233	RCV000204406;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	6	135732477	135732477	NM_017651.4:c.2961+9A>T		NC_000006.11:g.135732477T>A	-	C0431399 213300 Familial aplasia of the vermis
NM_017651.4(AHI1):c.2961+6_2961+7insGAC	54806	AHI1	Likely benign	780835322	RCV000206305;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	6	135732479	135732480	NM_017651.4:c.2961+6_2961+7insGAC		NC_000006.11:g.135732479_135732480insGTC	-	C0431399 213300 Familial aplasia of the vermis
NM_017651.4(AHI1):c.2624-6A>G	54806	AHI1	Benign;Likely benign	41288015	RCV000206263; RCV000116288;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	6	135748451	135748451	NM_017651.4:c.2624-6A>G		NC_000006.11:g.135748451T>C	-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified
NM_017651.4(AHI1):c.2421G>A (p.Glu807=)	54806	AHI1	Likely benign	864622356	RCV000205111;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	6	135751091	135751091	NM_017651.4:c.2421G>A	NP_060121.3:p.Glu807=	NC_000006.11:g.135751091C>T	-	C0431399 213300 Familial aplasia of the vermis
NM_017651.4(AHI1):c.1643G>A (p.Arg548His)	54806	AHI1	Benign;Likely benign	35433555	RCV000206565; RCV000116285;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	6	135768282	135768282	NM_017651.4:c.1643G>A	NP_060121.3:p.Arg548His	NC_000006.11:g.135768282C>T	-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified
NM_001134831.1(AHI1):c.1267C>T (p.Gln423Ter)	54806	AHI1	Pathogenic	777668842	RCV000206729; RCV000201715;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1837713,OMIM:608629	6	135776949	135776949	NM_001134831.1:c.1267C>T	NP_001128303.1:p.Gln423Ter	NC_000006.11:g.135776949G>A	-	C0431399 213300 Familial aplasia of the vermis; C1837713 608629 Joubert syndrome 3
NM_017651.4(AHI1):c.989A>G (p.Asp330Gly)	54806	AHI1	Benign	200201741	RCV000199507;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	6	135778794	135778794	NM_017651.4:c.989A>G	NP_060121.3:p.Asp330Gly	NC_000006.11:g.135778794T>C	-	C0431399 213300 Familial aplasia of the vermis
NM_017651.4(AHI1):c.517G>A (p.Ala173Thr)	54806	AHI1	Benign	146416468	RCV000168166; RCV000152762;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	6	135787184	135787184	NM_017651.4:c.517G>A	NP_060121.3:p.Ala173Thr	NC_000006.11:g.135787184C>T	-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified
NM_030578.3(B9D2):c.156_163delGGACATGG (p.Asp53Leufs)	80776	B9D2	Likely pathogenic	786204189	RCV000168253;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	19	41863853	41863860	NM_030578.3:c.156_163delGGACATGG	NP_085055.2:p.Asp53Leufs	NC_000019.9:g.41863853_41863860delCCATGTCC	-	C0431399 213300 Familial aplasia of the vermis
NM_001080522.2(CC2D2A):c.576T>C (p.Tyr192=)	57545	CC2D2A	Likely benign	536646769	RCV000199462;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	4	15512905	15512905	NM_001080522.2:c.576T>C	NP_001073991.2:p.Tyr192=	NC_000004.11:g.15512905T>C	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_001080522.2(CC2D2A):c.1017+1G>A	57545	CC2D2A	Pathogenic	200407856	RCV000198057; RCV000201663; RCV000152936;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C2676788,OMIM:612285; MedGen:CN221809	4	15517628	15517628	NM_001080522.2:c.1017+1G>A		NC_000004.11:g.15517628G>A	HGMD:CS127198	C0431399 213300 Familial aplasia of the vermis; C2676788 612285 Joubert syndrome 9; CN221809 not provided
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu)	57545	CC2D2A	Benign;Likely benign	144439937	RCV000114164; RCV000168049;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	4	15534868	15534868	NM_001080522.2:c.1519A>G	NP_001073991.2:p.Lys507Glu	NC_000004.11:g.15534868A>G	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys)	57545	CC2D2A	Uncertain significance	373960465	RCV000198956;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	4	15565009	15565009	NM_001080522.2:c.3046G>A	NP_001073991.2:p.Glu1016Lys	NC_000004.11:g.15565009G>A	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter)	57545	CC2D2A	Pathogenic	386833750	RCV000199602; RCV000000783; RCV000023922;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1857662,OMIM:216360,ORPHA:1454; MedGen:CN121474	4	15565108	15565108	NM_001080522.2:c.3145C>T	NP_001073991.2:p.Arg1049Ter	NC_000004.11:g.15565108C>G,NC_000004.11:g.15565108C>T	OMIM Allelic Variant:612013.0007	C1857662 216360 COACH syndrome; C0431399 213300 Familial aplasia of the vermis; CN121474 Joubert syndrome 9/15, digenic
NM_025114.3(CEP290):c.7007G>A (p.Gly2336Asp)	80184	CEP290	Uncertain significance	863224794	RCV000196137;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008	12	88448144	88448144	NM_025114.3:c.7007G>A	NP_079390.3:p.Gly2336Asp	NC_000012.11:g.88448144C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis
NM_025114.3(CEP290):c.6547C>T (p.His2183Tyr)	80184	CEP290	Uncertain significance	535765861	RCV000199740;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008	12	88453773	88453773	NM_025114.3:c.6547C>T	NP_079390.3:p.His2183Tyr	NC_000012.11:g.88453773G>A	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis
NM_025114.3(CEP290):c.6401T>C (p.Ile2134Thr)	80184	CEP290	Benign;Likely benign	117852025	RCV000152970; RCV000206646;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008; MedGen:CN169374	12	88454728	88454728	NM_025114.3:c.6401T>C	NP_079390.3:p.Ile2134Thr	NC_000012.11:g.88454728A>G	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis; CN169374 not specified
NM_025114.3(CEP290):c.4276_4277delAA (p.Asn1426Terfs)	80184	CEP290	Pathogenic	863224523	RCV000196701;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	12	88480193	88480194	NM_025114.3:c.4276_4277delAA	NP_079390.3:p.Asn1426Terfs	NC_000012.11:g.88480193_88480194delTT	-	C0431399 213300 Familial aplasia of the vermis
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=)	80184	CEP290	Benign;Likely benign	201838492	RCV000177576; RCV000198308;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008; MedGen:CN169374	12	88483184	88483184	NM_025114.3:c.3654T>C	NP_079390.3:p.Leu1218=	NC_000012.11:g.88483184A>G	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis; CN169374 not specified
NM_025114.3(CEP290):c.3574-9delT	80184	CEP290	Benign	10717563	RCV000082247; RCV000196108;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008; MedGen:CN169374	12	88483273	88483273	NM_025114.3:c.3574-9delT		NC_000012.11:g.88483273delA	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis; CN169374 not specified
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT	80184	CEP290	Benign	745522483	RCV000205653;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008	12	88500879	88500883	NM_025114.3:c.2484-8_2484-4dupGTTTT			-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs)	80184	CEP290	Likely pathogenic;Pathogenic	386834149	RCV000200294; RCV000050143;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1970161,OMIM:611134	12	88513962	88513962	NM_025114.3:c.1451delA	NP_079390.3:p.Lys484Argfs	NC_000012.11:g.88513962delT	-	C0431399 213300 Familial aplasia of the vermis; C1970161 611134 Meckel syndrome type 4
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln)	80184	CEP290	Likely benign	188164241	RCV000152980; RCV000195643;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008; MedGen:CN169374	12	88519133	88519133	NM_025114.3:c.1079G>A	NP_079390.3:p.Arg360Gln	NC_000012.11:g.88519133C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis; CN169374 not specified
NM_025114.3(CEP290):c.226G>A (p.Ala76Thr)	80184	CEP290	Uncertain significance	373913704	RCV000152983; RCV000197854;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008; MedGen:CN221809	12	88533296	88533296	NM_025114.3:c.226G>A	NP_079390.3:p.Ala76Thr	NC_000012.11:g.88533296C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis; CN221809 not provided
NM_025114.3(CEP290):c.204G>A (p.Leu68=)	80184	CEP290	Likely benign	780930630	RCV000197908;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C0687120,SNOMED CT:204958008	12	88533318	88533318	NM_025114.3:c.204G>A	NP_079390.3:p.Leu68=	NC_000012.11:g.88533318C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; C0687120 Nephronophthisis
NM_175876.4(EXOC8):c.794A>G (p.Glu265Gly)	149371	EXOC8	Uncertain significance	483352868	RCV000049280;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	1	231472698	231472698	NM_175876.4:c.794A>G	NP_787072.2:p.Glu265Gly	NC_000001.10:g.231472698T>C	OMIM Allelic Variant:615283.0001	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1919T>C (p.Ile640Thr)	56623	INPP5E	Uncertain significance	753001340	RCV000196839;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139324143	139324143	NM_019892.5:c.1919T>C	NP_063945.2:p.Ile640Thr	NC_000009.11:g.139324143A>G	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1897_1898delCA (p.Gln633Glufs)	56623	INPP5E	Pathogenic	863225199	RCV000201717;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139324164	139324165	NM_019892.5:c.1897_1898delCA	NP_063945.2:p.Gln633Glufs	NC_000009.11:g.139324164_139324165delTG	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1760delT (p.Val587Glyfs)	56623	INPP5E	Pathogenic	775518991	RCV000201536;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139324771	139324771	NM_019892.5:c.1760delT	NP_063945.2:p.Val587Glyfs	NC_000009.11:g.139324771delA	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1754G>A (p.Arg585His)	56623	INPP5E	Pathogenic	752300607	RCV000201629;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139324777	139324777	NM_019892.5:c.1754G>A	NP_063945.2:p.Arg585His	NC_000009.11:g.139324777C>T	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1684A>G (p.Ser562Gly)	56623	INPP5E	Pathogenic	863225197	RCV000201622;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139324847	139324847	NM_019892.5:c.1684A>G	NP_063945.2:p.Ser562Gly	NC_000009.11:g.139324847T>C	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1577C>T (p.Pro526Leu)	56623	INPP5E	Pathogenic	746867724	RCV000201636;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139325542	139325542	NM_019892.5:c.1577C>T	NP_063945.2:p.Pro526Leu	NC_000009.11:g.139325542G>A	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1468G>T (p.Asp490Tyr)	56623	INPP5E	Pathogenic	757222534	RCV000201688;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139326357	139326357	NM_019892.5:c.1468G>T	NP_063945.2:p.Asp490Tyr	NC_000009.11:g.139326357C>A	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1304G>A (p.Arg435Gln)	56623	INPP5E	Pathogenic	121918129	RCV000201569; RCV000022404;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN119531	9	139327014	139327014	NM_019892.5:c.1304G>A	NP_063945.2:p.Arg435Gln		OMIM Allelic Variant:613037.0004	C0431399 213300 Familial aplasia of the vermis; CN119531 Joubert syndrome 1
NM_019892.5(INPP5E):c.1249T>C (p.Ser417Pro)	56623	INPP5E	Pathogenic	863225202	RCV000201740;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139327438	139327438	NM_019892.5:c.1249T>C	NP_063945.2:p.Ser417Pro	NC_000009.11:g.139327438A>G	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1162G>T (p.Val388Leu)	56623	INPP5E	Pathogenic	863225201	RCV000201647;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139327525	139327525	NM_019892.5:c.1162G>T	NP_063945.2:p.Val388Leu	NC_000009.11:g.139327525C>A	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG	56623	INPP5E	Benign	71269007	RCV000196392;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139327599	139327600	NM_019892.5:c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG		NC_000009.11:g.139327599_139327600insCGCCCACCCCTCCAGCCA	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1154G>A (p.Cys385Tyr)	56623	INPP5E	Pathogenic	863225200	RCV000201546;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139327612	139327612	NM_019892.5:c.1154G>A	NP_063945.2:p.Cys385Tyr	NC_000009.11:g.139327612C>T	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1064C>T (p.Thr355Met)	56623	INPP5E	Pathogenic	863225198	RCV000201710;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139327702	139327702	NM_019892.5:c.1064C>T	NP_063945.2:p.Thr355Met	NC_000009.11:g.139327702G>A	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.1021G>A (p.Gly341Ser)	56623	INPP5E	Pathogenic	780882740	RCV000201735;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139328502	139328502	NM_019892.5:c.1021G>A	NP_063945.2:p.Gly341Ser	NC_000009.11:g.139328502C>T	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.944C>T (p.Pro315Leu)	56623	INPP5E	Pathogenic	754637179	RCV000201594;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139328579	139328579	NM_019892.5:c.944C>T	NP_063945.2:p.Pro315Leu	NC_000009.11:g.139328579G>A	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.907G>A (p.Val303Met)	56623	INPP5E	Pathogenic	746212325	RCV000201762;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	9	139329221	139329221	NM_019892.5:c.907G>A	NP_063945.2:p.Val303Met	NC_000009.11:g.139329221C>T	-	C0431399 213300 Familial aplasia of the vermis
NM_019892.5(INPP5E):c.603C>G (p.Ile201Met)	56623	INPP5E	Benign;Likely benign	36064831	RCV000205119; RCV000117274;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	9	139333269	139333269	NM_019892.5:c.603C>G	NP_063945.2:p.Ile201Met		-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified
NM_017777.3(MKS1):c.1609C>T (p.Arg537Cys)	54903	MKS1	Uncertain significance	35464956	RCV000206374;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	17	56283511	56283511	NM_017777.3:c.1609C>T	NP_060247.2:p.Arg537Cys		-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_017777.3(MKS1):c.1436G>A (p.Arg479His)	54903	MKS1	Benign;Likely benign	111315726	RCV000193368; RCV000204147;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	17	56283880	56283880	NM_017777.3:c.1436G>A	NP_060247.2:p.Arg479His	NC_000017.10:g.56283880C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_017777.3(MKS1):c.1175C>T (p.Pro392Leu)	54903	MKS1	Uncertain significance	763534380	RCV000204612;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	17	56285353	56285353	NM_017777.3:c.1175C>T	NP_060247.2:p.Pro392Leu		-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_017777.3(MKS1):c.233T>G (p.Ile78Ser)	54903	MKS1	Uncertain significance	786204222	RCV000168353;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	17	56294055	56294055	NM_017777.3:c.233T>G	NP_060247.2:p.Ile78Ser	NC_000017.10:g.56294055A>C	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu)	54903	MKS1	Benign;Likely benign	142813109	RCV000177294; RCV000206399;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	17	56294075	56294075	NM_017777.3:c.213C>G	NP_060247.2:p.Asp71Glu	NC_000017.10:g.56294075G>C	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_003611.2(OFD1):c.355C>A (p.Pro119Thr)	8481	OFD1	Likely benign	202103941	RCV000205740;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13757007	13757007	NM_003611.2:c.355C>A	NP_003602.1:p.Pro119Thr		-	C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1007dupA (p.Ser337Glufs)	8481	OFD1	Uncertain significance	864622390	RCV000204073;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13769439	13769439	NM_003611.2:c.1007dupA	NP_003602.1:p.Ser337Glufs		-	C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1294A>G (p.Lys432Glu)	8481	OFD1	Uncertain significance	142352920	RCV000168046;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774769	13774769	NM_003611.2:c.1294A>G	NP_003602.1:p.Lys432Glu	NC_000023.10:g.13774769A>G	-	C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1399C>A (p.Arg467Ser)	8481	OFD1	Uncertain significance	140561107	RCV000196961;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006	X	13774874	13774874	NM_003611.2:c.1399C>A	NP_003602.1:p.Arg467Ser	NC_000023.10:g.13774874C>A,NC_000023.10:g.13774874C>T	-	C0431399 213300 Familial aplasia of the vermis; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.1923G>A (p.Glu641=)	8481	OFD1	Benign;Likely benign	145300245	RCV000033987; RCV000080341; RCV000206456;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN169374	X	13778502	13778502	NM_003611.2:c.1923G>A	NP_003602.1:p.Glu641=	NC_000023.10:g.13778502G>A	-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified; C1510460 311200 Oral-facial-digital syndrome
NM_003611.2(OFD1):c.2376G>A (p.Glu792=)	8481	OFD1	Benign	183241931	RCV000146983; RCV000205304;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1510460,OMIM:311200,ORPHA:2750,SNOMED CT:52868006; MedGen:CN169374	X	13779319	13779319	NM_003611.2:c.2376G>A	NP_003602.1:p.Glu792=	NC_000023.10:g.13779319G>A	-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified; C1510460 311200 Oral-facial-digital syndrome
NM_015272.3(RPGRIP1L):c.3211G>A (p.Glu1071Lys)	23322	RPGRIP1L	Uncertain significance	864622470	RCV000206114;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	16	53671616	53671616	NM_015272.3:c.3211G>A	NP_056087.2:p.Glu1071Lys	16:g.53671616C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_015272.3(RPGRIP1L):c.2240G>A (p.Arg747Gln)	23322	RPGRIP1L	Uncertain significance	142349647	RCV000153059; RCV000200834;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN221809	16	53682940	53682940	NM_015272.3:c.2240G>A	NP_056087.2:p.Arg747Gln	NC_000016.9:g.53682940C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN221809 not provided
NM_015272.3(RPGRIP1L):c.1709dupA (p.Asp571Glyfs)	23322	RPGRIP1L	Pathogenic	778149316	RCV000168109; RCV000201673;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1969053,OMIM:611560	16	53686890	53686890	NM_015272.3:c.1709dupA	NP_056087.2:p.Asp571Glyfs	NC_000016.9:g.53686890dupT	-	C0431399 213300 Familial aplasia of the vermis; C1969053 611560 Joubert syndrome 7
NM_015272.3(RPGRIP1L):c.685G>A (p.Ala229Thr)	23322	RPGRIP1L	Benign;Likely benign;Pathogenic;risk factor	61747071	RCV000035002; RCV000001133; RCV000114223;	N	; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	16	53720436	53720436	NM_015272.3:c.685G>A	NP_056087.2:p.Ala229Thr	NC_000016.9:g.53720436C>T	OMIM Allelic Variant:610937.0013	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified
NM_015272.3(RPGRIP1L):c.230+1G>A	23322	RPGRIP1L	Likely pathogenic	786204135	RCV000168110;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	16	53730062	53730062	NM_015272.3:c.230+1G>A		NC_000016.9:g.53730062C>T	-	C0431399 213300 Familial aplasia of the vermis
NM_001082538.2(TCTN1):c.890C>T (p.Thr297Met)	79600	TCTN1	Uncertain significance	200460700	RCV000204582;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	12	111078234	111078234	NM_001082538.2:c.890C>T	NP_001076007.1:p.Thr297Met		-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_001082538.2(TCTN1):c.1095T>C (p.His365=)	79600	TCTN1	Likely benign	767963074	RCV000195563;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	12	111078945	111078945	NM_001082538.2:c.1095T>C	NP_001076007.1:p.His365=	NC_000012.11:g.111078945T>C	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_001082538.2(TCTN1):c.1234A>G (p.Ile412Val)	79600	TCTN1	Benign;Likely benign	75714509	RCV000079449; RCV000204466;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	12	111080097	111080097	NM_001082538.2:c.1234A>G	NP_001076007.1:p.Ile412Val	NC_000012.11:g.111080097A>G	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_024809.4(TCTN2):c.-2G>A	79867	TCTN2	Benign;Uncertain significance	141768405	RCV000173530; RCV000200728;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN221809	12	124155786	124155786	NM_024809.4:c.-2G>A		NC_000012.11:g.124155786G>A	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN221809 not provided
NM_024809.4(TCTN2):c.599G>A (p.Arg200Gln)	79867	TCTN2	Benign;Likely benign	79251326	RCV000114230; RCV000204827;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	12	124171417	124171417	NM_024809.4:c.599G>A	NP_079085.2:p.Arg200Gln	NC_000012.11:g.124171417G>A	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_024809.4(TCTN2):c.668C>T (p.Thr223Met)	79867	TCTN2	Uncertain significance	145374149	RCV000193818; RCV000195934;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	12	124171486	124171486	NM_024809.4:c.668C>T	NP_079085.2:p.Thr223Met	NC_000012.11:g.124171486C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_024809.4(TCTN2):c.898C>T (p.Leu300=)	79867	TCTN2	Benign;Likely benign	77804131	RCV000114237; RCV000205959;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	12	124175086	124175086	NM_024809.4:c.898C>T	NP_079085.2:p.Leu300=	NC_000012.11:g.124175086C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_024809.4(TCTN2):c.1505+3G>C	79867	TCTN2	Likely benign	111574617	RCV000198047;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	12	124181748	124181748	NM_024809.4:c.1505+3G>C		NC_000012.11:g.124181748G>C	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_024809.4(TCTN2):c.1585C>G (p.Leu529Val)	79867	TCTN2	Likely benign	113301547	RCV000199575;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	12	124184330	124184330	NM_024809.4:c.1585C>G	NP_079085.2:p.Leu529Val	NC_000012.11:g.124184330C>G	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_024809.4(TCTN2):c.2041T>C (p.Leu681=)	79867	TCTN2	Benign;Likely benign	112158562	RCV000114228; RCV000205050;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	12	124192207	124192207	NM_024809.4:c.2041T>C	NP_079085.2:p.Leu681=	NC_000012.11:g.124192207T>C	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_001173991.2(TMEM216):c.440G>C (p.Arg147Thr)	51259	TMEM216	Benign	10897158	RCV000200066; RCV000114239;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	11	61165741	61165741	NM_001173991.2:c.440G>C	NP_001167462.1:p.Arg147Thr	NC_000011.9:g.61165741G>C	-	C0431399 213300 Familial aplasia of the vermis; CN169374 not specified
NM_001044385.2(TMEM237):c.52C>T (p.Arg18Ter)	65062	TMEM237	Pathogenic	199469707	RCV000034999; RCV000024179;	N	MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C3280766,OMIM:614424	2	202505638	202505638	NM_001044385.2:c.52C>T	NP_001037850.1:p.Arg18Ter	NC_000002.11:g.202505638G>A	OMIM Allelic Variant:614423.0001	C0431399 213300 Familial aplasia of the vermis; C3280766 614424 Joubert syndrome 14
NM_153704.5(TMEM67):c.186T>C (p.Cys62=)	91147	TMEM67	Likely benign	115660279	RCV000196386;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	8	94767328	94767328	NM_153704.5:c.186T>C	NP_714915.3:p.Cys62=	NC_000008.10:g.94767328T>C	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_153704.5(TMEM67):c.517T>C (p.Cys173Arg)	91147	TMEM67	Uncertain significance	138783896	RCV000204053;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	8	94777644	94777644	NM_153704.5:c.517T>C	NP_714915.3:p.Cys173Arg		-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser)	91147	TMEM67	Pathogenic;Uncertain significance	775883520	RCV000201726; RCV000198666;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:C1853153,OMIM:610688	8	94792831	94792831	NM_153704.5:c.725A>G	NP_714915.3:p.Asn242Ser	NC_000008.10:g.94792831A>G	-	C0431399 213300 Familial aplasia of the vermis; C1853153 610688 Joubert syndrome 6; C0265215 Meckel-Gruber syndrome
NM_153704.5(TMEM67):c.934T>C (p.Ser312Pro)	91147	TMEM67	Uncertain significance	864622335	RCV000204544;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	8	94793166	94793166	NM_153704.5:c.934T>C	NP_714915.3:p.Ser312Pro		-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_153704.5(TMEM67):c.1309C>G (p.Leu437Val)	91147	TMEM67	Likely benign	35765535	RCV000114242; RCV000200297;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	8	94798471	94798471	NM_153704.5:c.1309C>G	NP_714915.3:p.Leu437Val	NC_000008.10:g.94798471C>G	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified
NM_153704.5(TMEM67):c.1426C>T (p.Pro476Ser)	91147	TMEM67	Uncertain significance	145236803	RCV000200007;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	8	94800085	94800085	NM_153704.5:c.1426C>T	NP_714915.3:p.Pro476Ser	NC_000008.10:g.94800085C>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_153704.5(TMEM67):c.1674+5A>T	91147	TMEM67	Uncertain significance	863224813	RCV000196421;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003	8	94805529	94805529	NM_153704.5:c.1674+5A>T		NC_000008.10:g.94805529A>T	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome
NM_153704.5(TMEM67):c.2397T>C (p.Asp799=)	91147	TMEM67	Benign	117195541	RCV000114247; RCV000205181;	N	MedGen:C0265215,SNOMED CT:29076005; MedGen:C0431399,OMIM:213300,SNOMED CT:253175003; MedGen:CN169374	8	94817064	94817064	NM_153704.5:c.2397T>C	NP_714915.3:p.Asp799=	NC_000008.10:g.94817064T>C	-	C0431399 213300 Familial aplasia of the vermis; C0265215 Meckel-Gruber syndrome; CN169374 not specified