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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

Hearing Loss Disease Portal

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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: Muscle Hypotonia (D009123)
Parent Node: Ocular Motility Disorders (D015835)
..Starting node ..Joubert syndrome 3 (C536295)
Child Nodes:
Sister Nodes:
..Athabaskan brainstem dysgenesis (C535397)
..Diffuse Lewy Body Disease with Gaze Palsy (C565077)
..Duane Retraction Syndrome (D004370) 2
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Joubert syndrome 6 (C537689)
..Joubert Syndrome 7 (C566916)
..Levator-Medial Rectus Synkinesis (C563625)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Miller Fisher Syndrome (D019846)
..Nystagmus, Pathologic (D009759) 25
..Oculomotor Nerve Diseases (D015840) 4
..Ophthalmoplegia (D009886) 41
..Ophthalmoplegia, Chronic Progressive External (D017246) 7
..Opsoclonus-Myoclonus Syndrome (D053578) 1
..Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..Setting-Sun Phenomenon, Familial Benign (C563470)
..Strabismus (D013285) 13
..Tolosa-Hunt Syndrome (D020333) 1
..Tukel syndrome (C536925)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5983

Name:

Joubert syndrome 3

Definition:

Alternative IDs:

OMIM:608629

ParentIDs:

MESH:D002526|MESH:D009123|MESH:D015835

TreeNumbers:

C10.228.140.252/C536295 |C10.228.758/C536295 |C10.292.562/C536295 |C10.597.613.575/C536295 |C11.590/C536295 |C23.888.592.608.575/C536295

Synonyms:

JBTS3

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C536295
MeSH: C536295
OMIM: 608629;

Genes: AHI1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000512	Abnormal electroretinogram
3	HP:0000463	Anteverted nares
4	HP:0001251	Ataxia
5	HP:0002871	Central apnea
6	HP:0001320	Cerebellar vermis hypoplasia
7	HP:0011933	Elongated superior cerebellar peduncle
8	HP:0100951	Enlarged fossa interpeduncularis
9	HP:0000286	Epicanthus
10	HP:0002876	Episodic tachypnea
11	HP:0001290	Generalized hypotonia
12	HP:0001425	Heterogeneous
13	HP:0002553	Highly arched eyebrow
14	HP:0001252	Hypotonia
15	HP:0001249	Intellectual disability
16	HP:0000369	Low-set ears
17	HP:0002419	Molar tooth sign on MRI
18	HP:0001270	Motor delay
19	HP:0002790	Neonatal breathing dysregulation
20	HP:0000090	Nephronophthisis
21	HP:0000639	Nystagmus
22	HP:0000657	Oculomotor apraxia
23	HP:0000194	Open mouth
24	HP:0000580	Pigmentary retinopathy
25	HP:0000508	Ptosis
26	HP:0000556	Retinal dystrophy
27	HP:0003774	Stage 5 chronic kidney disease
28	HP:0000505	Visual impairment
29	HP:0000431	Wide nasal bridge

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.3368C>T (p.Ser1123Phe)	54806	AHI1	Benign;Likely pathogenic	117447608	RCV000081799; RCV000200234;	N	MedGen:C1837713,OMIM:608629; MedGen:CN169374	6	135639715	135639715	NM_017651.4:c.3368C>T	NP_060121.3:p.Ser1123Phe	NC_000006.11:g.135639715G>A	-	C1837713 608629 Joubert syndrome 3; CN169374 not specified
NM_017651.4(AHI1):c.3368C>T (p.Ser1123Phe)	54806	AHI1	Benign;Likely pathogenic	117447608	RCV000081799; RCV000200234;	N	MedGen:C1837713,OMIM:608629; MedGen:CN169374	6	135639715	135639715	NM_017651.4:c.3368C>T	NP_060121.3:p.Ser1123Phe	NC_000006.11:g.135639715G>A	-	C1837713 608629 Joubert syndrome 3; CN169374 not specified
NM_001134831.1(AHI1):c.3263_3264delGG (p.Trp1088Leufs)	54806	AHI1	Uncertain significance	387906269	RCV000002090;	N	MedGen:C1837713,OMIM:608629	6	135644364	135644365	NM_001134831.1:c.3263_3264delGG	NP_001128303.1:p.Trp1088Leufs	NC_000006.11:g.135644364_135644365delCC	OMIM Allelic Variant:608894.0004	C1837713 608629 Joubert syndrome 3
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly)	54806	AHI1	Likely benign;Likely pathogenic	148000791	RCV000198715; RCV000132677;	N	MedGen:C1837713,OMIM:608629; MedGen:CN221809	6	135644371	135644371	NM_017651.4:c.3257A>G	NP_060121.3:p.Glu1086Gly	NC_000006.11:g.135644371T>C	-	C1837713 608629 Joubert syndrome 3; CN221809 not provided
NM_001134831.1(AHI1):c.2705T>A (p.Val902Asp)	54806	AHI1	Pathogenic	368788993	RCV000201756;	N	MedGen:C1837713,OMIM:608629	6	135748364	135748364	NM_001134831.1:c.2705T>A	NP_001128303.1:p.Val902Asp	NC_000006.11:g.135748364A>T	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2687A>G (p.His896Arg)	54806	AHI1	Pathogenic	863225135	RCV000201566;	N	MedGen:C1837713,OMIM:608629	6	135748382	135748382	NM_001134831.1:c.2687A>G	NP_001128303.1:p.His896Arg	NC_000006.11:g.135748382T>C	-	C1837713 608629 Joubert syndrome 3
NM_017651.4(AHI1):c.2598_2604delAGTGTAT (p.Ile866Metfs)	54806	AHI1	Pathogenic	587783014	RCV000144465;	N	MedGen:C1837713,OMIM:608629	6	135749786	135749792	NM_017651.4:c.2598_2604delAGTGTAT	NP_060121.3:p.Ile866Metfs	NC_000006.11:g.135749786_135749792delATACACT	-	C1837713 608629 Joubert syndrome 3
NM_017651.4(AHI1):c.2561G>T (p.Cys854Phe)	54806	AHI1	Likely pathogenic	745507530	RCV000200234;	N	MedGen:C1837713,OMIM:608629	6	135749829	135749829	NM_017651.4:c.2561G>T	NP_060121.3:p.Cys854Phe	NC_000006.11:g.135749829C>A	-	C1837713 608629 Joubert syndrome 3; CN169374 not specified
NM_001134831.1(AHI1):c.2495T>G (p.Leu832Ter)	54806	AHI1	Pathogenic	863225131	RCV000201542;	N	MedGen:C1837713,OMIM:608629	6	135749895	135749895	NM_001134831.1:c.2495T>G	NP_001128303.1:p.Leu832Ter	NC_000006.11:g.135749895A>C	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2368_2369insT (p.Asn790Ilefs)	54806	AHI1	Pathogenic	387906270	RCV000002093;	N	MedGen:C1837713,OMIM:608629	6	135752350	135752351	NM_001134831.1:c.2368_2369insT	NP_001128303.1:p.Asn790Ilefs	NC_000006.11:g.135752350_135752351insA	OMIM Allelic Variant:608894.0007	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2361G>T (p.Trp787Cys)	54806	AHI1	Pathogenic	863225146	RCV000201540;	N	MedGen:C1837713,OMIM:608629	6	135752358	135752358	NM_001134831.1:c.2361G>T	NP_001128303.1:p.Trp787Cys	NC_000006.11:g.135752358C>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2297G>A (p.Gly766Glu)	54806	AHI1	Pathogenic	863225139	RCV000201786;	N	MedGen:C1837713,OMIM:608629	6	135752422	135752422	NM_001134831.1:c.2297G>A	NP_001128303.1:p.Gly766Glu	NC_000006.11:g.135752422C>T	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2282C>T (p.Ser761Leu)	54806	AHI1	Pathogenic;Uncertain significance	794727174	RCV000185588; RCV000175088;	N	MedGen:C1837713,OMIM:608629; MedGen:CN221809	6	135752437	135752437	NM_001134831.1:c.2282C>T	NP_001128303.1:p.Ser761Leu	NC_000006.11:g.135752437G>A	OMIM Allelic Variant:608894.0011	C1837713 608629 Joubert syndrome 3; CN221809 not provided
NM_001134831.1(AHI1):c.2212C>T (p.Arg738Ter)	54806	AHI1	Pathogenic	372659908	RCV000201604;	N	MedGen:C1837713,OMIM:608629	6	135754219	135754219	NM_001134831.1:c.2212C>T	NP_001128303.1:p.Arg738Ter	NC_000006.11:g.135754219G>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2187_2196delGAGAGAAGAT (p.Met729Ilefs)	54806	AHI1	Pathogenic	863225140	RCV000201613;	N	MedGen:C1837713,OMIM:608629	6	135754235	135754244	NM_001134831.1:c.2187_2196delGAGAGAAGAT	NP_001128303.1:p.Met729Ilefs	NC_000006.11:g.135754235_135754244delATCTTCTCTC	-	C1837713 608629 Joubert syndrome 3
NM_017651.4(AHI1):c.2174G>A (p.Trp725Ter)	54806	AHI1	Pathogenic	587783013	RCV000144464;	N	MedGen:C1837713,OMIM:608629	6	135754257	135754257	NM_017651.4:c.2174G>A	NP_060121.3:p.Trp725Ter	NC_000006.11:g.135754257C>T	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2173T>C (p.Trp725Arg)	54806	AHI1	Pathogenic	863225144	RCV000201537;	N	MedGen:C1837713,OMIM:608629	6	135754258	135754258	NM_001134831.1:c.2173T>C	NP_001128303.1:p.Trp725Arg	NC_000006.11:g.135754258A>G	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2172delA (p.Trp725Glyfs)	54806	AHI1	Pathogenic	755407014	RCV000201778;	N	MedGen:C1837713,OMIM:608629	6	135754259	135754259	NM_001134831.1:c.2172delA	NP_001128303.1:p.Trp725Glyfs	NC_000006.11:g.135754259delT	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln)	54806	AHI1	Pathogenic	121434351	RCV000002092;	N	MedGen:C1837713,OMIM:608629	6	135754263	135754263	NM_001134831.1:c.2168G>A	NP_001128303.1:p.Arg723Gln	NC_000006.11:g.135754263C>T	OMIM Allelic Variant:608894.0006	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2156A>G (p.Asp719Gly)	54806	AHI1	Pathogenic	863225134	RCV000201556;	N	MedGen:C1837713,OMIM:608629	6	135754275	135754275	NM_001134831.1:c.2156A>G	NP_001128303.1:p.Asp719Gly	NC_000006.11:g.135754275T>C	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2098_2099dupGT (p.Tyr701Phefs)	54806	AHI1	Pathogenic	863225136	RCV000201656;	N	MedGen:C1837713,OMIM:608629	6	135754332	135754333	NM_001134831.1:c.2098_2099dupGT	NP_001128303.1:p.Tyr701Phefs	NC_000006.11:g.135754332_135754333dupAC	-	C1837713 608629 Joubert syndrome 3
NM_017651.4(AHI1):c.2087A>G (p.His696Arg)	54806	AHI1	Likely pathogenic	797045224	RCV000195247;	N	MedGen:C1837713,OMIM:608629	6	135754344	135754344	NM_017651.4:c.2087A>G	NP_060121.3:p.His696Arg	NC_000006.11:g.135754344T>C	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2036+1G>T	54806	AHI1	Pathogenic	776093293	RCV000201625;	N	MedGen:C1837713,OMIM:608629	6	135759512	135759512	NM_001134831.1:c.2036+1G>T		NC_000006.11:g.135759512C>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2023G>A (p.Asp675Asn)	54806	AHI1	Pathogenic	863225145	RCV000201721;	N	MedGen:C1837713,OMIM:608629	6	135759526	135759526	NM_001134831.1:c.2023G>A	NP_001128303.1:p.Asp675Asn	NC_000006.11:g.135759526C>T	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.2012C>T (p.Thr671Ile)	54806	AHI1	Pathogenic	772989270	RCV000201635;	N	MedGen:C1837713,OMIM:608629	6	135759537	135759537	NM_001134831.1:c.2012C>T	NP_001128303.1:p.Thr671Ile	NC_000006.11:g.135759537G>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1997A>T (p.Asp666Val)	54806	AHI1	Pathogenic	863225147	RCV000201632;	N	MedGen:C1837713,OMIM:608629	6	135759552	135759552	NM_001134831.1:c.1997A>T	NP_001128303.1:p.Asp666Val	NC_000006.11:g.135759552T>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1976A>T (p.Asp659Val)	54806	AHI1	Pathogenic	541041911	RCV000201711;	N	MedGen:C1837713,OMIM:608629	6	135759573	135759573	NM_001134831.1:c.1976A>T	NP_001128303.1:p.Asp659Val	NC_000006.11:g.135759573T>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1917T>A (p.Tyr639Ter)	54806	AHI1	Pathogenic	764412921	RCV000201738;	N	MedGen:C1837713,OMIM:608629	6	135759632	135759632	NM_001134831.1:c.1917T>A	NP_001128303.1:p.Tyr639Ter	NC_000006.11:g.135759632A>T	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1897_1898dupGG (p.Tyr634Aspfs)	54806	AHI1	Pathogenic	863225132	RCV000201727;	N	MedGen:C1837713,OMIM:608629	6	135763734	135763735	NM_001134831.1:c.1897_1898dupGG	NP_001128303.1:p.Tyr634Aspfs	NC_000006.11:g.135763734_135763735dupCC	-	C1837713 608629 Joubert syndrome 3
NM_017651.4(AHI1):c.1861G>T (p.Gly621Ter)	54806	AHI1	Pathogenic	797045223	RCV000194226;	N	MedGen:C1837713,OMIM:608629	6	135763771	135763771	NM_017651.4:c.1861G>T	NP_060121.3:p.Gly621Ter	NC_000006.11:g.135763771C>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1765C>T (p.Arg589Ter)	54806	AHI1	Pathogenic	267606641	RCV000002091;	N	MedGen:C1837713,OMIM:608629	6	135768160	135768160	NM_001134831.1:c.1765C>T	NP_001128303.1:p.Arg589Ter	NC_000006.11:g.135768160G>A	OMIM Allelic Variant:608894.0005	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1626+4_1626+5insTTAC	54806	AHI1	Pathogenic	863225148	RCV000201585;	N	MedGen:C1837713,OMIM:608629	6	135769423	135769424	NM_001134831.1:c.1626+4_1626+5insTTAC		NC_000006.11:g.135769423_135769424insGTAA	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1626+1G>A	54806	AHI1	Pathogenic	863225137	RCV000201568;	N	MedGen:C1837713,OMIM:608629	6	135769427	135769427	NM_001134831.1:c.1626+1G>A		NC_000006.11:g.135769427C>T	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1614delA (p.Val539Phefs)	54806	AHI1	Pathogenic	863225141	RCV000201702;	N	MedGen:C1837713,OMIM:608629	6	135769440	135769440	NM_001134831.1:c.1614delA	NP_001128303.1:p.Val539Phefs	NC_000006.11:g.135769440delT	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1516C>T (p.Arg506Ter)	54806	AHI1	Pathogenic	371637724	RCV000201739;	N	MedGen:C1837713,OMIM:608629	6	135769538	135769538	NM_001134831.1:c.1516C>T	NP_001128303.1:p.Arg506Ter	NC_000006.11:g.135769538G>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1484G>A (p.Arg495His)	54806	AHI1	Pathogenic	387907003	RCV000023740;	N	MedGen:C1837713,OMIM:608629	6	135769570	135769570	NM_001134831.1:c.1484G>A	NP_001128303.1:p.Arg495His	NC_000006.11:g.135769570C>T	OMIM Allelic Variant:608894.0009	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1303C>T (p.Arg435Ter)	54806	AHI1	Pathogenic	121434349	RCV000002088;	N	MedGen:C1837713,OMIM:608629	6	135776913	135776913	NM_001134831.1:c.1303C>T	NP_001128303.1:p.Arg435Ter	NC_000006.11:g.135776913G>A	OMIM Allelic Variant:608894.0002	C1837713 608629 Joubert syndrome 3
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_001134831.1(AHI1):c.1260G>A (p.Trp420Ter)	54806	AHI1	Pathogenic	863225143	RCV000201621;	N	MedGen:C1837713,OMIM:608629	6	135776956	135776956	NM_001134831.1:c.1260G>A	NP_001128303.1:p.Trp420Ter	NC_000006.11:g.135776956C>T	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1205delC (p.Pro402Leufs)	54806	AHI1	Likely pathogenic	794729195	RCV000184013;	N	MedGen:C1837713,OMIM:608629	6	135777011	135777011	NM_001134831.1:c.1205delC	NP_001128303.1:p.Pro402Leufs	NC_000006.11:g.135777011delG	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1152-2A>G	54806	AHI1	Pathogenic	753085250	RCV000201545;	N	MedGen:C1837713,OMIM:608629	6	135777066	135777066	NM_001134831.1:c.1152-2A>G		NC_000006.11:g.135777066T>C	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1115A>G (p.Asp372Gly)	54806	AHI1	Pathogenic	863225133	RCV000201728;	N	MedGen:C1837713,OMIM:608629	6	135778668	135778668	NM_001134831.1:c.1115A>G	NP_001128303.1:p.Asp372Gly	NC_000006.11:g.135778668T>C	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1052G>T (p.Arg351Leu)	54806	AHI1	Pathogenic	397514726	RCV000054427;	N	MedGen:C1837713,OMIM:608629	6	135778731	135778731	NM_001134831.1:c.1052G>T	NP_001128303.1:p.Arg351Leu	NC_000006.11:g.135778731C>A	OMIM Allelic Variant:608894.0010	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.1051C>T (p.Arg351Ter)	54806	AHI1	Pathogenic	121434348	RCV000002087;	N	MedGen:C1837713,OMIM:608629	6	135778732	135778732	NM_001134831.1:c.1051C>T	NP_001128303.1:p.Arg351Ter	NC_000006.11:g.135778732G>A	OMIM Allelic Variant:608894.0001	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.985C>T (p.Arg329Ter)	54806	AHI1	Pathogenic	201391050	RCV000023739;	N	MedGen:C1837713,OMIM:608629	6	135778798	135778798	NM_001134831.1:c.985C>T	NP_001128303.1:p.Arg329Ter	NC_000006.11:g.135778798G>A	OMIM Allelic Variant:608894.0008	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.910dupA (p.Thr304Asnfs)	54806	AHI1	Pathogenic	779410126	RCV000201689;	N	MedGen:C1837713,OMIM:608629	6	135784284	135784284	NM_001134831.1:c.910dupA	NP_001128303.1:p.Thr304Asnfs	NC_000006.11:g.135784284dupT	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.736A>T (p.Lys246Ter)	54806	AHI1	Pathogenic	863225142	RCV000201760;	N	MedGen:C1837713,OMIM:608629	6	135786965	135786965	NM_001134831.1:c.736A>T	NP_001128303.1:p.Lys246Ter	NC_000006.11:g.135786965T>A	-	C1837713 608629 Joubert syndrome 3
NM_001134831.1(AHI1):c.662C>G (p.Ser221Ter)	54806	AHI1	Pathogenic	863225138	RCV000201668;	N	MedGen:C1837713,OMIM:608629	6	135787039	135787039	NM_001134831.1:c.662C>G	NP_001128303.1:p.Ser221Ter	NC_000006.11:g.135787039G>C	-	C1837713 608629 Joubert syndrome 3