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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: Intellectual Disability (D008607)
Parent Node: Kidney Diseases (D007674)
..Starting node ..Joubert Syndrome 9 (C567364)
Child Nodes:
Sister Nodes:
..46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
..AIDS-Associated Nephropathy (D016263)
..Alsing syndrome (C536588)
..Anuria (D001002)
..Arnold Stickler Bourne syndrome (C537431)
..Atherosclerosis, Premature, with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease (C565928)
..Bifid Nose With Or Without Anorectal And Renal Anomalies (C567672)
..Blue diaper syndrome (C536239)
..Complement Factor H Deficiency (C562875)
..Diabetes Insipidus (D003919) 10
..Diabetic Nephropathies (D003928) 4
..Dimauro disease (C536176)
..Fanconi Syndrome (D005198) 3
..Hepatorenal Syndrome (D006530)
..Hereditary renal agenesis (C536482)
..Herrmann syndrome (C538113)
..Hydranencephaly with Renal Aplasia-Dysplasia (C565507)
..Hydronephrosis (D006869) 5
..Hyperoxaluria (D006959) 4
..Hypertension, Renal (D006977) 3
..HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1 (OMIM:162000)
..HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3 (OMIM:614227)
..Ichthyosis, mental retardation, dwarfism, and renal impairment (C536274)
..Infundibulopelvic dysgenesis (C535528)
..Jejunal atresia with renal adysplasia (C537567)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 9 (C567364)
..Juvenile gout (C537696)
..Kidney Cortex Necrosis (D007673)
..Kidney Diseases, Cystic (D052177) 52
..Kidney Neoplasms (D007680) 23
..Kidney Papillary Necrosis (D007681)
..Lachiewicz Sibley syndrome (C538131)
..Lipoprotein Glomerulopathy (C567089)
..Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus (C567188)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) (OMIM:612075)
..Nephritis (D009393) 51
..Nephrocalcinosis (D009397) 6
..Nephrolithiasis (D053040) 11
..NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
..Nephropathy with Pretibial Epidermolysis Bullosa and Deafness (C563798)
..Nephrosclerosis (D009400)
..Nephrosis (D009401) 22
..Perinephritis (D010501)
..Radio renal syndrome (C536267)
..Ren-Related Kidney Disease (C580420)
..Renal Artery Obstruction (D012078)
..Renal dysplasia - limb defects syndrome (C537754)
..Renal Hypodysplasia, Nonsyndromic, 1 (C563661)
..Renal Insufficiency (D051437) 15
..Renal Nutcracker Syndrome (D059228)
..Renal Osteodystrophy (D012080)
..RENAL TUBULAR DYSGENESIS (OMIM:267430)
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA (C564014)
..Selig Benacerraf Greene syndrome (C535840)
..Sex Reversal, Female, With Dysgenesis Of Kidneys, Adrenals, And Lungs (C567517)
..Siegler Brewer Carey syndrome (C537335)
..Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy (C566682)
..Thrombocytopenia with Elevated Serum Iga and Renal Disease (C564051)
..Thyrocerebral-retinal syndrome (C536908)
..Tuberculosis, Renal (D014398)
..Uremia (D014511) 4
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5989

Name:

Joubert Syndrome 9

Definition:

Alternative IDs:

OMIM:612285

ParentIDs:

MESH:D002526|MESH:D005124|MESH:D007674|MESH:D008607

TreeNumbers:

C10.228.140.252/C567364 |C10.597.606.643/C567364 |C11.250/C567364 |C12.777.419/C567364 |C13.351.968.419/C567364 |C16.131.384/C567364 |C23.888.592.604.646/C567364 |F03.550.600/C567364

Synonyms:

JBTS9 |JOUBERT SYNDROME 9/15, DIGENIC, INCLUDED

Slim Mappings:

Reference:

MedGen: C567364
MeSH: C567364
OMIM: 612285;

Genes: CC2D2A;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000483	Astigmatism
3	HP:0000518	Cataract
4	HP:0001249	Intellectual disability
5	HP:0002419	Molar tooth sign on MRI
6	HP:0000639	Nystagmus
7	HP:0000510	Rod-cone dystrophy
8	HP:0001250	Seizure	HP:0040283
9	HP:0002119	Ventriculomegaly

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_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.1263_1264insGGCATGTTTTGGCAGCGA (p.Phe421_Ser422insGlyMetPheTrpGlnArg)	57545	CC2D2A	Pathogenic	762998472	RCV000201658;	N	MedGen:C2676788,OMIM:612285	4	15529183	15529184	NM_001080522.2:c.1263_1264insGGCATGTTTTGGCAGCGA	NP_001073991.2:p.Phe421_Ser422insGlyMetPheTrpGlnArg	NC_000004.11:g.15529183_15529184insGGCATGTTTTGGCAGCGA	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.1503_1505delAGA (p.Lys501_Asp502delinsAsn)	57545	CC2D2A	Pathogenic	863225177	RCV000201543;	N	MedGen:C2676788,OMIM:612285	4	15534852	15534854	NM_001080522.2:c.1503_1505delAGA	NP_001073991.2:p.Lys501_Asp502delinsAsn	NC_000004.11:g.15534852_15534854delAGA	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter)	57545	CC2D2A	Pathogenic	781252161	RCV000201589;	N	MedGen:C2676788,OMIM:612285	4	15534907	15534907	NM_001080522.2:c.1558C>T	NP_001073991.2:p.Arg520Ter	NC_000004.11:g.15534907C>T	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro)	57545	CC2D2A	Pathogenic	754221308	RCV000201529;	N	MedGen:C2676788,OMIM:612285	4	15538611	15538611	NM_001080522.2:c.1676T>C	NP_001073991.2:p.Leu559Pro	NC_000004.11:g.15538611T>C	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.2624C>A (p.Ser875Ter)	57545	CC2D2A	Pathogenic	200904521	RCV000201574;	N	MedGen:C2676788,OMIM:612285	4	15556832	15556832	NM_001080522.2:c.2624C>A	NP_001073991.2:p.Ser875Ter	NC_000004.11:g.15556832C>A	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys)	57545	CC2D2A	Pathogenic	863225178	RCV000201758;	N	MedGen:C2676788,OMIM:612285	4	15558972	15558972	NM_001080522.2:c.2671G>A	NP_001073991.2:p.Glu891Lys	NC_000004.11:g.15558972G>A	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter)	57545	CC2D2A	Pathogenic	764719093	RCV000194720;	N	MedGen:C2676788,OMIM:612285	4	15558984	15558984	NM_001080522.2:c.2683C>T	NP_001073991.2:p.Gln895Ter	NC_000004.11:g.15558984C>T	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter)	57545	CC2D2A	Pathogenic	118204053	RCV000000781;	N	MedGen:C2676788,OMIM:612285	4	15560806	15560806	NM_001080522.2:c.2848C>T	NP_001073991.2:p.Arg950Ter	NC_000004.11:g.15560806C>T	OMIM Allelic Variant:612013.0005	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val)	57545	CC2D2A	Pathogenic	773881370	RCV000201775;	N	MedGen:C2676788,OMIM:612285	4	15562230	15562230	NM_001080522.2:c.2999A>T	NP_001073991.2:p.Glu1000Val	NC_000004.11:g.15562230A>T	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter)	57545	CC2D2A	Pathogenic	370880399	RCV000201572;	N	MedGen:C2676788,OMIM:612285	4	15565018	15565018	NM_001080522.2:c.3055C>T	NP_001073991.2:p.Arg1019Ter	NC_000004.11:g.15565018C>T	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala)	57545	CC2D2A	Pathogenic	863225173	RCV000201741;	N	MedGen:C2676788,OMIM:612285	4	15565097	15565097	NM_001080522.2:c.3134T>C	NP_001073991.2:p.Val1045Ala	NC_000004.11:g.15565097T>C	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His)	57545	CC2D2A	Pathogenic	863225169	RCV000201720;	N	MedGen:C2676788,OMIM:612285	4	15569105	15569105	NM_001080522.2:c.3288G>C	NP_001073991.2:p.Gln1096His	NC_000004.11:g.15569105G>C	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3289delG (p.Val1097Phefs)	57545	CC2D2A	Likely pathogenic;Pathogenic	386833751	RCV000201550; RCV000049715;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15569300	15569300	NM_001080522.2:c.3289delG	NP_001073991.2:p.Val1097Phefs	NC_000004.11:g.15569300delG	-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met)	57545	CC2D2A	Likely pathogenic;Pathogenic	386833752	RCV000201581; RCV000049716;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15569352	15569352	NM_001080522.2:c.3341C>T	NP_001073991.2:p.Thr1114Met	NC_000004.11:g.15569352C>T	-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met)	57545	CC2D2A	Pathogenic	267606709	RCV000201781; RCV000000784;	N	MedGen:C1857662,OMIM:216360,ORPHA:1454; MedGen:C2676788,OMIM:612285	4	15569358	15569358	NM_001080522.2:c.3347C>T	NP_001073991.2:p.Thr1116Met	NC_000004.11:g.15569358C>T	OMIM Allelic Variant:612013.0008	C1857662 216360 COACH syndrome; C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser)	57545	CC2D2A	Pathogenic	118204051	RCV000000779;	N	MedGen:C2676788,OMIM:612285	4	15569375	15569375	NM_001080522.2:c.3364C>T	NP_001073991.2:p.Pro1122Ser	NC_000004.11:g.15569375C>T	OMIM Allelic Variant:612013.0003	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3452T>C (p.Val1151Ala)	57545	CC2D2A	Pathogenic	863225170	RCV000201640;	N	MedGen:C2676788,OMIM:612285	4	15570969	15570969	NM_001080522.2:c.3452T>C	NP_001073991.2:p.Val1151Ala	NC_000004.11:g.15570969T>C	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3594+5G>A	57545	CC2D2A	Likely pathogenic	863225181	RCV000201770;	N	MedGen:C2676788,OMIM:612285	4	15572124	15572124	NM_001080522.2:c.3594+5G>A		NC_000004.11:g.15572124G>A	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr)	57545	CC2D2A	Pathogenic	760918829	RCV000201761;	N	MedGen:C2676788,OMIM:612285	4	15575774	15575774	NM_001080522.2:c.3596T>C	NP_001073991.2:p.Ile1199Thr	NC_000004.11:g.15575774T>C	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3743_3746dupTGGT (p.Pro1250Glyfs)	57545	CC2D2A	Pathogenic	863225171	RCV000201593;	N	MedGen:C2676788,OMIM:612285	4	15575921	15575924	NM_001080522.2:c.3743_3746dupTGGT	NP_001073991.2:p.Pro1250Glyfs	NC_000004.11:g.15575921_15575924dupTGGT	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3772-1G>T	57545	CC2D2A	Pathogenic	863225172	RCV000201649;	N	MedGen:C2676788,OMIM:612285	4	15581590	15581590	NM_001080522.2:c.3772-1G>T		NC_000004.11:g.15581590G>T	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3774dupT (p.Glu1259Terfs)	57545	CC2D2A	Likely pathogenic;Pathogenic	386833757	RCV000201709; RCV000049721;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15581593	15581593	NM_001080522.2:c.3774dupT	NP_001073991.2:p.Glu1259Terfs	NC_000004.11:g.15581593dupT	-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys)	57545	CC2D2A	Pathogenic	779823379	RCV000201552;	N	MedGen:C2676788,OMIM:612285	4	15581669	15581669	NM_001080522.2:c.3850C>T	NP_001073991.2:p.Arg1284Cys	NC_000004.11:g.15581669C>T	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3891_3892delTG (p.Val1298Phefs)	57545	CC2D2A	Pathogenic	763735590	RCV000201723;	N	MedGen:C2676788,OMIM:612285	4	15581710	15581711	NM_001080522.2:c.3891_3892delTG	NP_001073991.2:p.Val1298Phefs	NC_000004.11:g.15581710_15581711delTG	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA	57545	CC2D2A	Likely pathogenic;Pathogenic	386833759	RCV000201729; RCV000049723;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15581798	15581801	NM_001080522.2:c.3975+4_3975+7delAGTA		NC_000004.11:g.15581798_15581801delAGTA	-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.3976-3C>A	57545	CC2D2A	Likely pathogenic	576298659	RCV000201676;	N	MedGen:C2676788,OMIM:612285	4	15587777	15587777	NM_001080522.2:c.3976-3C>A		NC_000004.11:g.15587777C>A	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.3989G>A (p.Arg1330Gln)	57545	CC2D2A	Pathogenic	763486732	RCV000201714;	N	MedGen:C2676788,OMIM:612285	4	15587793	15587793	NM_001080522.2:c.3989G>A	NP_001073991.2:p.Arg1330Gln	NC_000004.11:g.15587793G>A	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4093_4095delGAA (p.Glu1367del)	57545	CC2D2A	Likely pathogenic	794729225	RCV000184047;	N	MedGen:C2676788,OMIM:612285	4	15589466	15589468	NM_001080522.2:c.4093_4095delGAA	NP_001073991.2:p.Glu1367del	NC_000004.11:g.15589466_15589468delGAA	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4179+1delG (p.Gly1394Valfs)	57545	CC2D2A	Likely pathogenic;Pathogenic	386833760	RCV000194003; RCV000049724;	N	MedGen:C2676788,OMIM:612285; MedGen:C2676790,OMIM:612284	4	15589553	15589553	NM_001080522.2:c.4179+1delG	NP_001073991.2:p.Gly1394Valfs		-	C2676788 612285 Joubert syndrome 9; C2676790 612284 Meckel syndrome type 6
NM_001080522.2(CC2D2A):c.4226T>C (p.Ile1409Thr)	57545	CC2D2A	Pathogenic	863225176	RCV000201617;	N	MedGen:C2676788,OMIM:612285	4	15591214	15591214	NM_001080522.2:c.4226T>C	NP_001073991.2:p.Ile1409Thr	NC_000004.11:g.15591214T>C	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4289T>C (p.Val1430Ala)	57545	CC2D2A	Pathogenic	863225168	RCV000201598;	N	MedGen:C2676788,OMIM:612285	4	15591277	15591277	NM_001080522.2:c.4289T>C	NP_001073991.2:p.Val1430Ala	NC_000004.11:g.15591277T>C	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4465_4468delGACA (p.Asp1489Lysfs)	57545	CC2D2A	Pathogenic	797045437	RCV000193046;	N	MedGen:C2676788,OMIM:612285	4	15599057	15599060	NM_001080522.2:c.4465_4468delGACA	NP_001073991.2:p.Asp1489Lysfs	NC_000004.11:g.15599057_15599060delGACA	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4491A>C (p.Gln1497His)	57545	CC2D2A	Pathogenic	863225179	RCV000201637;	N	MedGen:C2676788,OMIM:612285	4	15599083	15599083	NM_001080522.2:c.4491A>C	NP_001073991.2:p.Gln1497His	NC_000004.11:g.15599083A>C	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys)	57545	CC2D2A	Pathogenic	118204052	RCV000000780;	N	MedGen:C2676788,OMIM:612285	4	15601237	15601237	NM_001080522.2:c.4582C>T	NP_001073991.2:p.Arg1528Cys	NC_000004.11:g.15601237C>T	OMIM Allelic Variant:612013.0004	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4595_4596delCT (p.Leu1533Valfs)	57545	CC2D2A	Likely pathogenic	794729226	RCV000184047;	N	MedGen:C2676788,OMIM:612285	4	15601250	15601251	NM_001080522.2:c.4595_4596delCT	NP_001073991.2:p.Leu1533Valfs	NC_000004.11:g.15589466_15589468delGAA	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val)	57545	CC2D2A	Pathogenic	778858648	RCV000201634;	N	MedGen:C2676788,OMIM:612285	4	15601255	15601255	NM_001080522.2:c.4600T>G	NP_001073991.2:p.Leu1534Val	NC_000004.11:g.15601255T>G	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val)	57545	CC2D2A	Pathogenic	201502401	RCV000201706;	N	MedGen:C2676788,OMIM:612285	4	15601322	15601322	NM_001080522.2:c.4667A>T	NP_001073991.2:p.Asp1556Val	NC_000004.11:g.15601322A>T	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala)	57545	CC2D2A	Pathogenic	863225174	RCV000201684;	N	MedGen:C2676788,OMIM:612285	4	15602926	15602926	NM_001080522.2:c.4741A>G	NP_001073991.2:p.Thr1581Ala	NC_000004.11:g.15602926A>G	-	C2676788 612285 Joubert syndrome 9
NM_001080522.2(CC2D2A):c.4843_4846delTCTC (p.Ser1615Leufs)	57545	CC2D2A	Pathogenic	863225175	RCV000201615;	N	MedGen:C2676788,OMIM:612285	4	15603028	15603031	NM_001080522.2:c.4843_4846delTCTC	NP_001073991.2:p.Ser1615Leufs	NC_000004.11:g.15603028_15603031delTCTC	-	C2676788 612285 Joubert syndrome 9