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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: Abnormalities, Multiple (D000015)
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 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:

6560

Name:

Joubert syndrome 1

Definition:

Alternative IDs:

OMIM:213300

ParentIDs:

MESH:D000015|MESH:D005124|MESH:D052177

TreeNumbers:

C11.250/C536293 |C12.777.419.403/C536293 |C13.351.968.419.403/C536293 |C16.131.077/C536293 |C16.131.384/C536293

Synonyms:

Slim Mappings:

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

Reference:

MedGen: C536293
MeSH: C536293
OMIM: 213300;
MSeqDR :
Genes: INPP5E;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000617	Abnormality of ocular smooth pursuit
3	HP:0000570	Abnormality of saccadic eye movements
4	HP:0001760	Abnormality of the foot
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 NAMDC: Mental retardation
20	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
21	HP:0010828	Hemifacial spasm
22	HP:0001395	Hepatic fibrosis
23	HP:0001425	Heterogeneous
24	HP:0002553	Highly arched eyebrow
25	HP:0000752	Hyperactivity
26	HP:0002365	Hypoplasia of the brainstem
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:0001252	Muscular hypotonia NAMDC: Hypotonia
34	HP:0002790	Neonatal breathing dysregulation
35	HP:0007271	Occipital myelomeningocele	HP:0040283
36	HP:0000657	Oculomotor apraxia
37	HP:0000588	Optic nerve coloboma
38	HP:0003812	Phenotypic variability
39	HP:0001162	Postaxial hand polydactyly
40	HP:0011220	Prominent forehead
41	HP:0010808	Protruding tongue
42	HP:0000508	Ptosis NAMDC: Ptosis
43	HP:0000107	Renal cyst	HP:0040283
44	HP:0007973	Retinal dysplasia	HP:0040283
45	HP:0000556	Retinal dystrophy
46	HP:0000742	Self-mutilation
47	HP:0200096	Triangular-shaped open mouth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)	54806	AHI1	Conflicting interpretations of pathogenicity	rs780163791	RCV000424420\|RCV000987784\|RCV001075600\|RCV001047025\|RCV001376231\|RCV003114537;	N	MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MON	6	135644432	135644432	6:g.135644432G>A	ClinGen:CA4012074	CN169374 not specified;
NM_001134831.2(AHI1):c.2742del (p.Leu915fs)	54806	AHI1	Pathogenic	rs1583179845	RCV000987785\|RCV002549687;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	6	135748327	135748327	6:g.135748327_135748327del	-
NM_001134831.2(AHI1):c.2623+1G>T	54806	AHI1	Pathogenic	rs751823180	RCV000791182\|RCV000987786\|RCV001856246;	N	MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629, Orphanet:220493\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	6	135749766	135749766	6:g.135749766C>A	-
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)	54806	AHI1	Benign/Likely benign	rs13312995	RCV000116287\|RCV000386088\|RCV000987787\|RCV001095102;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629,Orphan	6	135751024	135751024	6:g.135751024G>A	ClinGen:CA151702,UniProtKB:Q8N157#VAR_037896	C0431399 Joubert syndrome;
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)	54806	AHI1	Conflicting interpretations of pathogenicity	rs374009466	RCV000987788\|RCV002282416\|RCV002471002\|RCV001869351;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN169374\|MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629, Orphanet:220493\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orp	6	135763803	135763803	6:g.135763803C>G	-
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)	54806	AHI1	Likely pathogenic	rs1583276758	RCV000987789;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	6	135768146	135768146	6:g.135768146C>A	-
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)	54806	AHI1	Pathogenic/Likely pathogenic	rs794729195	RCV000184013\|RCV000987790\|RCV001852379;	N	MONDO:MONDO:0012078,MedGen:C1837713,OMIM:608629, Orphanet:220493\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	6	135777011	135777011	6:g.135777011_135777011del	ClinGen:CA275456	C1837713 608629 Joubert syndrome 3;
NM_001174150.2(ARL13B):c.486+22dup	200894	ARL13B	Benign/Likely benign	rs368491848	RCV000860065\|RCV000987296;	N	MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	3	93754286	93754287	3:g.93754286_93754287insT	-
NM_001174150.2(ARL13B):c.486+22del	200894	ARL13B	Benign	rs368491848	RCV000987297\|RCV002538894;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012855,MedGen:C2676771,OMIM:612291, Orphanet:475	3	93754287	93754287	3:g.93754287_93754287del	-
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)	200894	ARL13B	Benign/Likely benign	rs11554412	RCV000180713\|RCV000514568\|RCV000987298\|RCV001084233;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012855,MedGen:C2676771,OMIM:612291, Orphanet:475	3	93769712	93769712	3:g.93769712C>G	ClinGen:CA203795	C2676771 612291 Joubert syndrome 8;
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)	57545	CC2D2A	Benign	rs1861050	RCV000114165\|RCV000269461\|RCV000329244\|RCV000987414\|RCV000860404\|RCV001711272;	N	MedGen:CN169374\|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285, Orphanet:2318\|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284, Orphanet:564\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Hum	4	15482360	15482360	4:g.15482360C>T	ClinGen:CA150852	C0431399 Joubert syndrome;
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)	57545	CC2D2A	Pathogenic	rs757208121	RCV000456449\|RCV000987416;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	4	15529187	15529187	4:g.15529187C>T	ClinGen:CA2863622	C0431399 Joubert syndrome;
NM_001378615.1(CC2D2A):c.4093GAA[2] (p.Glu1367del)	57545	CC2D2A	Conflicting interpretations of pathogenicity	rs794729225	RCV000624610\|RCV000987418\|RCV002518409;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:	4	15589466	15589468	4:g.15589466_15589468del	ClinVar:424729,ClinGen:CA352228	C0950123 Inborn genetic diseases;
NM_001378615.1(CC2D2A):c.4597_4598del (p.Leu1533fs)	57545	CC2D2A	Pathogenic	rs794729226	RCV000987419\|RCV002519818;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564	4	15601250	15601251	NC_000004.11:g.15601250CT[1]	ClinVar:424729,ClinGen:CA352231	C2676788 612285 Joubert syndrome 9;
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)	80184	CEP290	Conflicting interpretations of pathogenicity	rs77778467	RCV000132681\|RCV000193732\|RCV000490488\|RCV000988879\|RCV001110731\|RCV001110732\|RCV001109949\|RCV001109950\|RCV001083794\|RCV001272010;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0012723,MedGen:C1857821,OMIM:611755, Orphanet:65\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012626,MedGen:C1970161,OMIM:611134, Orphanet:564\|MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188,Orph	12	88452656	88452656	12:g.88452656T>C	ClinGen:CA207418,UniProtKB:O15078#VAR_067192	C1857821 611755 Leber congenital amaurosis 10;
NM_025114.4(CEP290):c.6271-8T>G	80184	CEP290	Pathogenic/Likely pathogenic	rs1039146791	RCV000988880\|RCV001869357\|RCV002252287;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; Human P	12	88456563	88456563	12:g.88456563A>C	-
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)	80184	CEP290	Pathogenic/Likely pathogenic	rs778030031	RCV000988881\|RCV000815985\|RCV002495153;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human P	12	88465636	88465636	12:g.88465636C>G	-
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)	80184	CEP290	Likely pathogenic	rs1592836704	RCV000988882;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	12	88478363	88478363	12:g.88478363C>G	-
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)	80184	CEP290	Uncertain significance	rs761010723	RCV000988883\|RCV001296623\|RCV001827131;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; Human P	12	88482927	88482927	12:g.88482927A>G	-
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)	80184	CEP290	Pathogenic	rs886042153	RCV000382757\|RCV000787815\|RCV000988885\|RCV001380938\|RCV002222465\|RCV002479997;	N	MedGen:CN517202\|Human Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970, Orphanet:1872\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:H	12	88500547	88500547	12:g.88500547G>A	ClinGen:CA10603872	C1857780 610188 Joubert syndrome 5;
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)	80184	CEP290	Pathogenic	rs727503855	RCV000201724\|RCV000988887\|RCV001236913\|RCV001731520\|RCV001833165\|RCV001836753\|RCV002274974;	N	MONDO:MONDO:0012432,MedGen:C1857780,OMIM:610188, Orphanet:2318\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MO	12	88512304	88512305	12:g.88512304_88512305insT	ClinGen:CA277788	C1857780 610188 Joubert syndrome 5;
NM_025114.4(CEP290):c.1522+1G>C	80184	CEP290	Pathogenic	rs1592639588	RCV000988889;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	12	88513890	88513890	12:g.88513890C>G	-
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)	80184	CEP290	Conflicting interpretations of pathogenicity	rs188164241	RCV000152980\|RCV000658663\|RCV000988890\|RCV001084283\|RCV001110567\|RCV001110568\|RCV001110569\|RCV001110571\|RCV001110570\|RCV001275040\|RCV002294046;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655; Human Phenotype Ontology:HP:0002335,Hu	12	88519133	88519133	12:g.88519133C>T	ClinGen:CA179860	C0431399 Joubert syndrome;
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)	80184	CEP290	Pathogenic	rs1592668925	RCV000988891;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	12	88522784	88522784	12:g.88522784G>C	-
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)	80184	CEP290	Conflicting interpretations of pathogenicity	rs779010679	RCV000988892\|RCV001075119\|RCV001210117;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:	12	88533299	88533299	12:g.88533299T>C	-
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)	80184	CEP290	Likely pathogenic	rs1434632102	RCV000988893;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	12	88535071	88535071	12:g.88535071A>G	-
NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter)	65250	CPLANE1	Pathogenic	-1	RCV001730758;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	5	37121841	37121841	37121841	-
NM_001384732.1(CPLANE1):c.9017+1G>A	65250	CPLANE1	Pathogenic/Likely pathogenic	rs863225154	RCV000201659\|RCV000987513\|RCV001857740\|RCV002500627;	N	MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615, Orphanet:475; MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170, Orphanet:2754	5	37122531	37122531	5:g.37122531C>T	ClinGen:CA279466	C3553264 614615 Joubert syndrome 17;
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala)	65250	CPLANE1	Conflicting interpretations of pathogenicity	rs1019442092	RCV000987514\|RCV001858670;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	5	37206344	37206344	5:g.37206344C>G	-
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs)	65250	CPLANE1	Pathogenic	rs1305821156	RCV000987515\|RCV001858671\|RCV002275208;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|	5	37213683	37213683	5:g.37213683_37213683del	-
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs)	65250	CPLANE1	Pathogenic	rs1280425167	RCV000987517\|RCV001858672\|RCV002275197;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|	5	37227472	37227472	5:g.37227472_37227472del	-
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)	65250	CPLANE1	Pathogenic/Likely pathogenic	rs755097302	RCV000438829\|RCV000694430\|RCV001729596;	N	MedGen:CN517202\|MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170, Orphanet:2754; MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	5	37227771	37227771	5:g.37227771G>A	ClinGen:CA3239117	C3553264 614615 Joubert syndrome 17;
NM_019892.6(INPP5E):c.*926T>C	56623	INPP5E	Likely benign	rs1128877	RCV000361000;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323201	139323201	NC_000009.11:g.139323201A>G	ClinGen:CA10626888	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*913T>C	56623	INPP5E	Uncertain significance	rs886063708	RCV000264105;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323214	139323214	NC_000009.11:g.139323214A>G	ClinGen:CA10633007	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*816A>G	56623	INPP5E	Benign	rs8413	RCV000321574;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323311	139323311	NC_000009.11:g.139323311T>C	ClinGen:CA10629589	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*811G>A	56623	INPP5E	Uncertain significance	rs778109117	RCV001168534;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323316	139323316	9:g.139323316C>T	-
NM_019892.6(INPP5E):c.*763G>C	56623	INPP5E	Uncertain significance	rs564573606	RCV000374015;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323364	139323364	NC_000009.11:g.139323364C>G	ClinGen:CA10633009	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*747T>C	56623	INPP5E	Uncertain significance	rs191248562	RCV000281848;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323380	139323380	NC_000009.11:g.139323380A>G	ClinGen:CA10629590	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*727C>T	56623	INPP5E	Uncertain significance	rs886063709	RCV000317667;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323400	139323400	NC_000009.11:g.139323400G>A	ClinGen:CA10626889	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*721C>T	56623	INPP5E	Uncertain significance	rs886063710	RCV000388568;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323406	139323406	NC_000009.11:g.139323406G>A	ClinGen:CA10633242	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*703A>G	56623	INPP5E	Benign	rs1128874	RCV000296422;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323424	139323424	NC_000009.11:g.139323424T>C	ClinGen:CA10633015	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*630G>A	56623	INPP5E	Uncertain significance	rs539039743	RCV000348979;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323497	139323497	NC_000009.11:g.139323497C>T	ClinGen:CA10633017	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*582C>T	56623	INPP5E	Uncertain significance	rs931605716	RCV001169290;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323545	139323545	9:g.139323545G>A	-
NM_019892.6(INPP5E):c.*559C>T	56623	INPP5E	Uncertain significance	rs1835639348	RCV001169291;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323568	139323568	9:g.139323568G>A	-
NM_019892.6(INPP5E):c.*484C>G	56623	INPP5E	Uncertain significance	rs1358870988	RCV001169292;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323643	139323643	9:g.139323643G>C	-
NM_019892.6(INPP5E):c.*328T>C	56623	INPP5E	Benign	rs35763810	RCV000390164\|RCV001692069;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139323799	139323799	NC_000009.11:g.139323799A>G	ClinGen:CA10629599	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*235A>G	56623	INPP5E	Uncertain significance	rs376604726	RCV000290483;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323892	139323892	NC_000009.11:g.139323892T>C	ClinGen:CA10633243	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*213C>T	56623	INPP5E	Uncertain significance	rs544203657	RCV001166353;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139323914	139323914	9:g.139323914G>A	-
NM_019892.6(INPP5E):c.*98G>A	56623	INPP5E	Benign/Likely benign	rs35873563	RCV000347672\|RCV001692070;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139324029	139324029	NC_000009.11:g.139324029C>T	ClinGen:CA10633250	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*13G>A	56623	INPP5E	Uncertain significance	rs199734968	RCV001166354;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139324114	139324114	9:g.139324114C>T	-
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)	56623	INPP5E	Likely pathogenic	rs763184652	RCV001197573;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139324165	139324165	9:g.139324165G>A	-
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)	56623	INPP5E	Benign	rs33982662	RCV000117271\|RCV000391288\|RCV001095305\|RCV001705836;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139324737	139324737	9:g.139324737C>A	ClinGen:CA153167	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)	56623	INPP5E	Benign	rs10870182	RCV000117269\|RCV000360862\|RCV001095307\|RCV001730524;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156,Orphan	9	139324740	139324740	9:g.139324740C>T	ClinGen:CA153164	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs10870182	RCV000117270\|RCV000308485\|RCV001095306\|RCV001311042;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139324740	139324740	9:g.139324740C>G	ClinGen:CA153166	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys)	56623	INPP5E	Uncertain significance	rs1564431175	RCV000785904;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139324768	139324768	9:g.139324768T>C	-
NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)	56623	INPP5E	Likely pathogenic	-1	RCV002471799;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139324769	139324769	NC_000009.11:g.139324769A>G	-
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs368026621	RCV000391284\|RCV000436637\|RCV001095319;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MedGen:CN169374\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139324788	139324788	NC_000009.11:g.139324788C>T	ClinGen:CA5336672	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs147967974	RCV000302693\|RCV000489191\|RCV001095320;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139324801	139324801	NC_000009.11:g.139324801G>C	ClinGen:CA5336675
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)	56623	INPP5E	Pathogenic	rs121918128	RCV000022403;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139324843	139324843	9:g.139324843C>T	ClinGen:CA259596,UniProtKB:Q9NRR6#VAR_063016,OMIM:613037.0003	CN119531 213300 Joubert syndrome 1;
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs760729838	RCV001166876\|RCV002067815;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139324845	139324845	9:g.139324845G>A	-
NM_019892.6(INPP5E):c.1666-12A>G	56623	INPP5E	Uncertain significance	rs372545147	RCV001198895\|RCV001876283;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139324877	139324877	9:g.139324877T>C	-
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup)	56623	INPP5E	Uncertain significance	rs778019120	RCV001037230\|RCV001335945;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139325467	139325468	9:g.139325467_139325468insTCC	-
NM_019892.6(INPP5E):c.1550-14C>T	56623	INPP5E	Benign/Likely benign	rs181576122	RCV000245901\|RCV000359523\|RCV001512536;	N	MedGen:CN169374\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139325583	139325583	NC_000009.11:g.139325583G>A	ClinGen:CA5336729	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)	56623	INPP5E	Uncertain significance	rs13294000	RCV001166877\|RCV001873546;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139326278	139326278	9:g.139326278T>C	-
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)	56623	INPP5E	Likely pathogenic	rs13297509	RCV000022402\|RCV001851510;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139326282	139326282	9:g.139326282G>A	ClinGen:CA259595,UniProtKB:Q9NRR6#VAR_063015,OMIM:613037.0002	CN119531 213300 Joubert syndrome 1;
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp)	56623	INPP5E	Uncertain significance	-1	RCV001957700\|RCV002484684;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858; MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139326291	139326291	139326291	-
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs780119172	RCV000875432\|RCV001166878\|RCV001401870;	N	MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139326295	139326295	9:g.139326295G>A	-
NM_019892.6(INPP5E):c.1521C>T (p.His507=)	56623	INPP5E	Benign	rs10870188	RCV000117267\|RCV000262680\|RCV001095321\|RCV001730523;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156,Orphan	9	139326304	139326304	9:g.139326304G>A	ClinGen:CA153160	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs74880446	RCV000320108\|RCV001095322\|RCV001718790;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139326319	139326319	NC_000009.11:g.139326319C>T	ClinGen:CA5336769	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs754015058	RCV000925655\|RCV001168594;	N	MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139326346	139326346	9:g.139326346C>T	-
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)	56623	INPP5E	Uncertain significance	rs768384414	RCV001168595\|RCV001245821;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139326372	139326372	9:g.139326372C>T	-
NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)	56623	INPP5E	Uncertain significance	-1	RCV002510616;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139326417	139326417	NC_000009.11:g.139326417C>T	-
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs377483407	RCV000353915\|RCV002058785;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139326418	139326418	NC_000009.11:g.139326418G>A	ClinGen:CA5336801	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)	56623	INPP5E	Uncertain significance	rs750331066	RCV001168596\|RCV001376392\|RCV001238911;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0000510,Human Phenotype Ontology:HP:0001127,Human Phenotype Ontology:HP:0007635,Human Phenotype Ontology:HP:0007645,Human Phenotype Ontology:HP:0007742,Human Phenotype Ontology:	9	139326432	139326432	9:g.139326432C>T	-
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)	56623	INPP5E	Uncertain significance	rs199956627	RCV000985083\|RCV001338742\|RCV001844251\|RCV002549635;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	9	139326437	139326437	9:g.139326437G>A	-
NM_019892.6(INPP5E):c.1388-5C>T	56623	INPP5E	Conflicting interpretations of pathogenicity	rs187956407	RCV000260443\|RCV000868722\|RCV001476344;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139326442	139326442	NC_000009.11:g.139326442G>A	ClinGen:CA5336810	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1388-13C>T	56623	INPP5E	Benign	rs78828148	RCV000248077\|RCV000332039\|RCV001515692\|RCV001529214;	N	MedGen:CN169374\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MedGen:CN517202	9	139326450	139326450	9:g.139326450G>A	ClinGen:CA5336811	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)	56623	INPP5E	Uncertain significance	rs200837258	RCV000388805\|RCV001865249;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139326934	139326934	NC_000009.11:g.139326934C>T	ClinGen:CA10633254	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs145543466	RCV000292228\|RCV000599895\|RCV002058786;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139326938	139326938	NC_000009.11:g.139326938G>A	ClinGen:CA5336833	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn)	56623	INPP5E	Uncertain significance	rs138150684	RCV001201612\|RCV001335944;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139326958	139326958	9:g.139326958C>T	-
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)	56623	INPP5E	Benign	rs35774078	RCV000117266\|RCV000330969\|RCV001095350;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139326959	139326959	9:g.139326959G>A	ClinGen:CA153158	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile)	56623	INPP5E	Uncertain significance	rs201043370	RCV000383155\|RCV001095351\|RCV002523760;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MeSH:D030342,MedGen:C0950123	9	139326993	139326993	NC_000009.11:g.139326993G>A	ClinGen:CA5336842	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)	56623	INPP5E	Uncertain significance	rs1835733198	RCV001197599;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139327006	139327006	9:g.139327006C>G	-
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)	56623	INPP5E	Pathogenic/Likely pathogenic	rs121918129	RCV000022404\|RCV000201569\|RCV001073387\|RCV003144102;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:000773	9	139327014	139327014	9:g.139327014C>T	ClinGen:CA259597,UniProtKB:Q9NRR6#VAR_063013,OMIM:613037.0004	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)	56623	INPP5E	Benign	rs10870194	RCV000117265\|RCV000291204\|RCV001095352\|RCV001705835\|RCV001730522;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|MONDO:MONDO:0012423,MedGen:C1857802,OM	9	139327034	139327034	9:g.139327034A>G	ClinGen:CA153156	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1279+14T>C	56623	INPP5E	Conflicting interpretations of pathogenicity	rs886063711	RCV000343852\|RCV002523761;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139327394	139327394	NC_000009.11:g.139327394A>G	ClinGen:CA10626893	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)	56623	INPP5E	Benign	rs10781542	RCV000117264\|RCV000400377\|RCV001095353\|RCV001705834\|RCV001730521;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|MONDO:MONDO:0012423,MedGen:C1857802,OM	9	139327439	139327439	9:g.139327439A>G	ClinGen:CA153154	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)	56623	INPP5E	Uncertain significance	rs200033750	RCV001169361\|RCV001343710;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139327495	139327495	9:g.139327495C>T	-
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs558778286	RCV000192872\|RCV000285933\|RCV001095354;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139327496	139327496	NC_000009.11:g.139327496G>A	ClinGen:CA205994	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1159+16_1159+33del	56623	INPP5E	Uncertain significance	rs1239490197	RCV001267699\|RCV002541632;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139327574	139327591	9:g.139327574_139327591del	-
NM_019892.6(INPP5E):c.1159+8C>T	56623	INPP5E	Benign	rs73566945	RCV000117263\|RCV000343178\|RCV001095355\|RCV001705833;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139327599	139327599	9:g.139327599G>A	ClinGen:CA153153	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs200518324	RCV000303395\|RCV001408981;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139327630	139327630	NC_000009.11:g.139327630C>T	ClinGen:CA5336941	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)	56623	INPP5E	Pathogenic/Likely pathogenic	rs121918130	RCV000022405\|RCV000636941\|RCV000735369\|RCV001267543\|RCV001550720\|RCV002265543;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|16 conditions\|MeSH:D030342,MedGen:C0950123\|MedGen:CN517202\|MONDO:MONDO	9	139327634	139327634	NC_000009.11:g.139327634G>A	ClinGen:CA259598,UniProtKB:Q9NRR6#VAR_063012,OMIM:613037.0005
NM_019892.6(INPP5E):c.1104C>T (p.His368=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs148592275	RCV000337294\|RCV000867407\|RCV002058787;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139327662	139327662	NC_000009.11:g.139327662G>A	ClinGen:CA5336950	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs746782404	RCV001166422\|RCV002067810;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139327692	139327692	9:g.139327692C>T	-
NM_019892.6(INPP5E):c.1034+8G>A	56623	INPP5E	Conflicting interpretations of pathogenicity	rs201272028	RCV001166423\|RCV001519254;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139328481	139328481	9:g.139328481C>T	-
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs780882740	RCV000201735\|RCV001267700\|RCV001775666;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139328502	139328502	NC_000009.11:g.139328502C>T	ClinGen:CA277795	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg)	56623	INPP5E	Uncertain significance	rs368235861	RCV001166424;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139328514	139328514	9:g.139328514C>G	-
NM_019892.6(INPP5E):c.981C>T (p.Ala327=)	56623	INPP5E	Benign	rs35498378	RCV000117277\|RCV000391578\|RCV001095310\|RCV001705837;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139328542	139328542	9:g.139328542G>A	ClinGen:CA153179	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)	56623	INPP5E	Benign	rs10870199	RCV000117276\|RCV000297520\|RCV001095311\|RCV001730525;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156,Orphan	9	139328551	139328551	9:g.139328551T>C	ClinGen:CA153177	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs199873582	RCV000194920\|RCV001044083\|RCV001166425\|RCV002517084;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MeSH:D030342,MedGen:C0950123	9	139329253	139329253	NC_000009.11:g.139329253C>T	ClinGen:CA209401	CN169374 not specified;
NM_019892.6(INPP5E):c.813-5C>G	56623	INPP5E	Benign/Likely benign	rs186462782	RCV000477158\|RCV001166952\|RCV001556105\|RCV001701018;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|MedGen:CN169374	9	139329320	139329320	NC_000009.11:g.139329320G>C	ClinGen:CA5337060	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.813-8C>T	56623	INPP5E	Conflicting interpretations of pathogenicity	rs373176644	RCV000369602\|RCV001095323\|RCV001712166;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139329323	139329323	NC_000009.11:g.139329323G>A	ClinGen:CA5337062	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.813-9C>T	56623	INPP5E	Likely benign	-1	RCV001424657\|RCV002476750;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0012423,MedGen:C1857802,OMIM:610156, Orphanet:75858; MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139329324	139329324	139329324	-
NM_019892.6(INPP5E):c.812+7_812+10del	56623	INPP5E	Benign	rs5901103	RCV000243300\|RCV000311422\|RCV001722336\|RCV001730636\|RCV001730635;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0012423,MedGen:C1857802,OM	9	139333050	139333053	NC_000009.11:g.139333050CCCT[1]	ClinGen:CA5337073	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.791G>A (p.Arg264His)	56623	INPP5E	Benign	rs202197173	RCV000251292\|RCV000368479\|RCV001095324;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333081	139333081	9:g.139333081C>T	ClinGen:CA5337076	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.636C>A (p.Val212=)	56623	INPP5E	Benign/Likely benign	rs34071122	RCV000117275\|RCV000271552\|RCV001095325\|RCV002498514;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300; MONDO:	9	139333236	139333236	9:g.139333236G>T	ClinGen:CA153175	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs143107549	RCV000839869\|RCV001335948\|RCV001088844\|RCV002527750;	N	MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MeSH:D030342,MedGen:C0950123	9	139333249	139333249	NC_000009.11:g.139333249G>A	ClinGen:CA5337119	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)	56623	INPP5E	Benign/Likely benign	rs36064831	RCV000117274\|RCV000205119\|RCV001095326\|RCV001727573;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139333269	139333269	9:g.139333269G>C	ClinGen:CA153173,UniProtKB:Q9NRR6#VAR_047078	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)	56623	INPP5E	Uncertain significance	rs200223403	RCV001166953\|RCV001343368;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139333292	139333292	9:g.139333292G>C	-
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser)	56623	INPP5E	Uncertain significance	rs754964359	RCV000381186\|RCV001095327;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333325	139333325	NC_000009.11:g.139333325G>A	ClinGen:CA5337139	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.531C>A (p.Ala177=)	56623	INPP5E	Benign	rs58206296	RCV000117273\|RCV000270307\|RCV001095328;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333341	139333341	9:g.139333341G>T	ClinGen:CA153171	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys)	56623	INPP5E	Uncertain significance	rs778210239	RCV001053283\|RCV001335947;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333362	139333362	9:g.139333362G>C	-
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs78211353	RCV001039160\|RCV001168667\|RCV001556039;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139333403	139333403	9:g.139333403C>A	-
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs187724945	RCV000868426\|RCV001168668\|RCV001487906;	N	MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475	9	139333568	139333568	9:g.139333568C>A	-
NM_019892.6(INPP5E):c.226dup (p.Ala76fs)	56623	INPP5E	Pathogenic	-1	RCV002471865;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333645	139333646	NC_000009.11:g.139333646dup	-
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys)	56623	INPP5E	Uncertain significance	rs886063713	RCV000322670;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333736	139333736	NC_000009.11:g.139333736C>T	ClinGen:CA10633271	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)	56623	INPP5E	Benign	rs79161998	RCV000117272\|RCV000379655\|RCV001095345;	N	MedGen:CN169374\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333839	139333839	9:g.139333839G>C	ClinGen:CA153169	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)	56623	INPP5E	Conflicting interpretations of pathogenicity	rs571588033	RCV000282860\|RCV001095346\|RCV001707685;	N	Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139333851	139333851	NC_000009.11:g.139333851A>G	ClinGen:CA5337213	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-31G>C	56623	INPP5E	Likely benign	rs554931078	RCV000243056\|RCV000340185;	N	MedGen:CN169374\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333902	139333902	9:g.139333902C>G	ClinGen:CA5337218	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-41C>T	56623	INPP5E	Uncertain significance	rs1170873095	RCV001168669;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139333912	139333912	9:g.139333912G>A	-
NM_019892.6(INPP5E):c.-149C>T	56623	INPP5E	Uncertain significance	rs1386453934	RCV001168670;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139334020	139334020	9:g.139334020G>A	-
NM_019892.6(INPP5E):c.-174G>A	56623	INPP5E	Benign/Likely benign	rs544247720	RCV000373937\|RCV000834550;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202	9	139334045	139334045	NC_000009.11:g.139334045C>T	ClinGen:CA10633272	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-175C>T	56623	INPP5E	Uncertain significance	rs868202242	RCV001169431;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139334046	139334046	9:g.139334046G>A	-
NM_019892.6(INPP5E):c.-239C>G	56623	INPP5E	Uncertain significance	rs562519905	RCV000281768;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139334110	139334110	NC_000009.11:g.139334110G>C	ClinGen:CA10626910	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-271C>T	56623	INPP5E	Uncertain significance	rs886063714	RCV000334503;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139334142	139334142	NC_000009.11:g.139334142G>A	ClinGen:CA10629606	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-343T>C	56623	INPP5E	Uncertain significance	rs886063715	RCV000399112;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139334214	139334214	NC_000009.11:g.139334214A>G	ClinGen:CA10633277	C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-347G>A	56623	INPP5E	Uncertain significance	rs886063716	RCV000314073;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	9	139334218	139334218	NC_000009.11:g.139334218C>T	ClinGen:CA10626911	C0431399 Joubert syndrome;
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)	79778	MICALL2	Pathogenic	rs556808514	RCV000416431;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	7	1484855	1484855	NC_000007.13:g.1484855G>C	ClinGen:CA16044225	CN119531 213300 Joubert syndrome 1;
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)	148867	SLC30A7	Pathogenic	rs1057519442	RCV000416450;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	1	101377773	101377774	NC_000001.10:g.101377773_101377774delinsAG	ClinGen:CA16044212	CN119531 213300 Joubert syndrome 1;
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)	65062	TMEM237	Conflicting interpretations of pathogenicity	rs372686071	RCV000243342\|RCV000402180\|RCV000986978;	N	MedGen:CN169374\|MONDO:MONDO:0013745,MedGen:C3280766,OMIM:614424\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	2	202492057	202492057	2:g.202492057T>C	ClinGen:CA2056327	C0431399 Joubert syndrome;
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)	91147	TMEM67	Conflicting interpretations of pathogenicity	rs140191346	RCV000174181\|RCV000988094\|RCV001356583\|RCV001409831;	N	MedGen:CN169374\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|MedGen:CN517202\|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OM	8	94794635	94794635	8:g.94794635A>G	ClinGen:CA200867	CN169374 not specified;
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs)	91147	TMEM67	Pathogenic	rs1586074742	RCV000988095;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	8	94811945	94811946	8:g.94811945_94811946insCAGTGTCT	-
NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu)	91147	TMEM67	Uncertain significance	rs1586090222	RCV000988096;	N	MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300	8	94821113	94821113	8:g.94821113C>G	-
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)	79809	TTC21B	Conflicting interpretations of pathogenicity	rs146496725	RCV000176426\|RCV000415806\|RCV000986865\|RCV001085304\|RCV001135581\|RCV001135582\|RCV001171333\|RCV002277374;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655; MONDO:MONDO:0018770,MedGen:C0265275,OM	2	166747445	166747445	2:g.166747445G>C	ClinGen:CA201936,UniProtKB:Q7Z4L5#VAR_065544	C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)	79809	TTC21B	Conflicting interpretations of pathogenicity	rs149925563	RCV000179530\|RCV000724482\|RCV000986867\|RCV001087340\|RCV001132639\|RCV001132638;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300\|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655; MONDO:MONDO:0018770,MedGen:C0265275,OM	2	166797556	166797556	2:g.166797556T>A	ClinGen:CA246806,UniProtKB:Q7Z4L5#VAR_065520	CN169374 not specified;

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