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:
expand
Abnormalities, Multiple (D000015)
Parent Node:
expand
Eye Abnormalities (D005124)
Parent Node:
expand
Kidney Diseases, Cystic (D052177)
..Starting node
..expand
Joubert syndrome 1 (C536293)

       Child Nodes:



 Sister Nodes: 
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandBrachymesomelia renal syndrome (C537096)
..expandCerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula (C563731)
..expandCystic Kidney Disease with Ventriculomegaly (C565657)
..expandGlomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria (C563693)
..expandJoubert syndrome 1 (C536293)
..expandJoubert syndrome 2 (C536294)
..expandJoubert syndrome 4 (C536296)
..expandJoubert Syndrome 7 (C566916)
..expandMedullary Sponge Kidney (D007691) Child1
..expandMulticystic Dysplastic Kidney (D021782) Child2
..expandNEPHRONOPHTHISIS 11 (OMIM:613550)
..expandNEPHRONOPHTHISIS 12 (OMIM:613820)
..expandNEPHRONOPHTHISIS 14 (OMIM:614844)
..expandNEPHRONOPHTHISIS 15 (OMIM:614845)
..expandNEPHRONOPHTHISIS 16 (OMIM:615382)
..expandNEPHRONOPHTHISIS 18 (OMIM:615862)
..expandNEPHRONOPHTHISIS 19 (OMIM:616217)
..expandNephronophthisis 2 (C566582)
..expandNEPHRONOPHTHISIS 20 (OMIM:617271)
..expandNephronophthisis 3 (C565780)
..expandNephronophthisis 4 (C564640)
..expandNephronophthisis 7 (C566930)
..expandNEPHRONOPHTHISIS 9 (OMIM:613824)
..expandNephronophthisis, familial juvenile (C537699)
..expandPolycystic Kidney Diseases (D007690) Child21
..expandRenal cysts and diabetes syndrome (C535520)
..expandRENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..expandSenior Loken Syndrome (C537580)
..expandSenior-Loken Syndrome 3 (C564637)
..expandSenior-Loken syndrome 4 (C537581)
..expandSenior-Loken Syndrome 5 (C563763)
..expandSenior-Loken Syndrome 6 (C565708)
..expandSitus inversus totalis with cystic dysplasia of kidneys and pancreas (C536666)
..expandTsc2 Angiomyolipomas, Renal, Modifier Of (C567682)
..expandUlnar 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:Agenesis of Cerebellar Vermis |Cerebellar vermis agenesis |Cerebello-Oculo-Renal Syndrome |Cerebellooculorenal syndrome 1 |Cerebelloparenchymal disorder 4 |Cerebelloparenchymal Disorder IV |CORS1 |CPD4 |Familial Aplasia of the Vermis |JBTS |JBTS1 |Joubert-Boltshaus
Slim Mappings:Congenital abnormality|Eye disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C536293
MeSH: C536293
OMIM: 213300;
MSeqDR LSDB:  
Genes: INPP5E;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000617Abnormality of ocular smooth pursuit
3 HP:0000570Abnormality of saccadic eye movements
4 HP:0001760Abnormality of the foot
5 HP:0002335Agenesis of cerebellar vermis
6 HP:0000718Aggressive behavior
7 HP:0000463Anteverted nares
8 HP:0001251Ataxia
9 HP:0002508Brainstem dysplasia
10 HP:0002871Central apnea
11 HP:0001320Cerebellar vermis hypoplasia
12 HP:0000567Chorioretinal coloboma
13 HP:0002195Dysgenesis of the cerebellar vermis
14 HP:0011933Elongated superior cerebellar peduncle
15 HP:0100951Enlarged fossa interpeduncularis
16 HP:0000286Epicanthus
17 HP:0002876Episodic tachypnea
18 HP:0001290Generalized hypotonia
19 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
20 HP:0001263Global developmental delay
NAMDC:  Mental retardation
21 HP:0010828Hemifacial spasm
22 HP:0001395Hepatic fibrosis
23 HP:0001425Heterogeneous
24 HP:0002553Highly arched eyebrow
25 HP:0000752Hyperactivity
26 HP:0002365Hypoplasia of the brainstem
27 HP:0007772Impaired smooth pursuit
28 HP:0001249Intellectual disability
29 HP:0000369Low-set ears
30 HP:0000256Macrocephaly
31 HP:0000158Macroglossia
32 HP:0002419Molar tooth sign on MRI
33 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
34 HP:0002790Neonatal breathing dysregulation
35 HP:0007271Occipital myelomeningoceleHP:0040283
36 HP:0000657Oculomotor apraxia
37 HP:0000588Optic nerve coloboma
38 HP:0003812Phenotypic variability
39 HP:0001162Postaxial hand polydactyly
40 HP:0011220Prominent forehead
41 HP:0010808Protruding tongue
42 HP:0000508Ptosis
NAMDC:  Ptosis
43 HP:0000107Renal cystHP:0040283
44 HP:0007973Retinal dysplasiaHP:0040283
45 HP:0000556Retinal dystrophy
46 HP:0000742Self-mutilation
47 HP:0200096Triangular-shaped open mouth
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001134831.2(AHI1):c.2742del (p.Leu915fs)54806AHI1Pathogenicrs1583179845RCV000987785; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133006135748327135748327GAG6:g.135748327_135748327del-
NM_001134831.2(AHI1):c.2623+1G>T54806AHI1Pathogenicrs751823180RCV000791182|RCV000987786|RCV001856246; NMONDO: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:4756135749766135749766CA6:g.135749766C>A-
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)54806AHI1Benign/Likely benignrs13312995RCV000116287|RCV000386088|RCV000987787|RCV001095102; NMedGen: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,Orphan6135751024135751024GA6:g.135751024G>AClinGen:CA151702,UniProtKB:Q8N157#VAR_037896C0431399 Joubert syndrome;
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)54806AHI1Conflicting interpretations of pathogenicityrs374009466RCV000987788|RCV001869351; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4756135763803135763803CG6:g.135763803C>G-
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)54806AHI1Likely pathogenicrs1583276758RCV000987789; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133006135768146135768146CA6:g.135768146C>A-
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)54806AHI1Pathogenic/Likely pathogenicrs794729195RCV000184013|RCV000987790|RCV001852379; NMONDO: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:4756135777011135777011AGA6:g.135777011_135777011delClinGen:CA275456C1837713 608629 Joubert syndrome 3;
NM_001174150.2(ARL13B):c.486+22dup200894ARL13BBenign/Likely benignrs368491848RCV000860065|RCV000987296; NMedGen:CN517202|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:21330039375428693754287GGT3:g.93754286_93754287insT-
NM_001174150.2(ARL13B):c.486+22del200894ARL13BBenignrs368491848RCV000860441|RCV000987297; NMedGen:CN517202|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:21330039375428793754287GTG3:g.93754287_93754287del-
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)200894ARL13BBenign/Likely benignrs11554412RCV000180713|RCV000514568|RCV000987298|RCV001084233; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MONDO:MONDO:0012855,MedGen:C2676771,OMIM:612291, Orphanet:47539376971293769712CG3:g.93769712C>GClinGen:CA203795C2676771 612291 Joubert syndrome 8;
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)57545CC2D2ABenignrs1861050RCV000114165|RCV000329244|RCV000269461|RCV000987414|RCV000860404|RCV001711272; NMedGen:CN169374|MONDO:MONDO:0012848,MedGen:C2676790,OMIM:612284, Orphanet:564|MONDO:MONDO:0012849,MedGen:C2676788,OMIM:612285, Orphanet:2318|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0041548236015482360CT4:g.15482360C>TClinGen:CA150852C0431399 Joubert syndrome;
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)57545CC2D2APathogenicrs757208121RCV000456449|RCV000987416; NHuman 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:21330041552918715529187CT4:g.15529187C>TClinGen:CA2863622C0431399 Joubert syndrome;
NM_001378615.1(CC2D2A):c.4093GAA[2] (p.Glu1367del)57545CC2D2ALikely pathogenicrs794729225RCV000987418|RCV000624610; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MeSH:D030342,MedGen:C095012341558946615589468TGAAT4:g.15589466_15589468delClinVar:424729,ClinGen:CA352228C0950123 Inborn genetic diseases;
NM_001378615.1(CC2D2A):c.4597_4598del (p.Leu1533fs)57545CC2D2APathogenicrs794729226RCV000987419; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:21330041560125015601251CCTCNC_000004.11:g.15601250CT[1]ClinVar:424729,ClinGen:CA352231C2676788 612285 Joubert syndrome 9;
NM_025114.4(CEP290):c.6271-8T>G80184CEP290Pathogenicrs1039146791RCV000988880|RCV001869357; NMONDO: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:0000090,Human Phenotype Ontology:HP:000474128845656388456563AC12:g.88456563A>C-
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)80184CEP290Likely pathogenicrs1592836704RCV000988882; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300128847836388478363CG12:g.88478363C>G-
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)80184CEP290Uncertain significancers761010723RCV000988883|RCV001296623|RCV001827131; NMONDO: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:0000090,Human Phenotype Ontology:HP:000474128848292788482927AG12:g.88482927A>G-
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)80184CEP290Pathogenicrs886042153RCV000382757|RCV000787815|RCV000988885|RCV001380938; NMedGen:CN517202|Human Phenotype Ontology:HP:0000548,MONDO:MONDO:0015993,MedGen:C4085590,OMIM:PS120970, Orphanet:1872|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:00187128850054788500547GA12:g.88500547G>AClinGen:CA10603872C1857780 610188 Joubert syndrome 5;
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)80184CEP290Pathogenicrs727503855RCV000201724|RCV000988887|RCV001236913|RCV001731520|RCV001836753|RCV001833165; NMONDO: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:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MO128851230488512305AAT12:g.88512304_88512305insTClinGen:CA277788C1857780 610188 Joubert syndrome 5;
NM_025114.4(CEP290):c.1522+1G>C80184CEP290Pathogenicrs1592639588RCV000988889; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300128851389088513890CG12:g.88513890C>G-
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)80184CEP290Conflicting interpretations of pathogenicityrs188164241RCV000152980|RCV000658663|RCV000988890|RCV001084283|RCV001110567|RCV001110568|RCV001110569|RCV001110571|RCV001110570|RCV001275040; NMedGen: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,Hu128851913388519133CT12:g.88519133C>TClinGen:CA179860C0431399 Joubert syndrome;
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)80184CEP290Pathogenicrs1592668925RCV000988891; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300128852278488522784GC12:g.88522784G>C-
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)80184CEP290Uncertain significancers779010679RCV000988892|RCV001075119|RCV001210117; NMONDO: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:128853329988533299TC12:g.88533299T>C-
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)80184CEP290Likely pathogenicrs1434632102RCV000988893; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300128853507188535071AG12:g.88535071A>G-
NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter)65250CPLANE1Pathogenic-1RCV001730758; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:21330053712184137121841GT37121841-
NM_001384732.1(CPLANE1):c.9017+1G>A65250CPLANE1Pathogenic/Likely pathogenicrs863225154RCV000201659|RCV000987513|RCV001857740; NMONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615, Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN51720253712253137122531CT5:g.37122531C>TClinGen:CA279466C3553264 614615 Joubert syndrome 17;
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala)65250CPLANE1Conflicting interpretations of pathogenicityrs1019442092RCV000987514|RCV001858670; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN51720253720634437206344CG5:g.37206344C>G-
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs)65250CPLANE1Pathogenicrs1305821156RCV000987515|RCV001858671; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN51720253721368337213683GAG5:g.37213683_37213683del-
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs)65250CPLANE1Pathogenicrs1280425167RCV000987517|RCV001858672; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN51720253722747237227472CAC5:g.37227472_37227472del-
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter)65250CPLANE1Pathogenicrs755097302RCV000438829|RCV000694430|RCV001729596; NMedGen:CN517202|MONDO:MONDO:0013824,MedGen:C3553264,OMIM:614615, Orphanet:475; MONDO:MONDO:0010176,MedGen:C2745997,OMIM:277170, Orphanet:2754|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:21330053722777137227771GA5:g.37227771G>AClinGen:CA3239117C3553264 614615 Joubert syndrome 17;
NM_019892.6(INPP5E):c.*926T>C56623INPP5ELikely benignrs1128877RCV000361000; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323201139323201AGNC_000009.11:g.139323201A>GClinGen:CA10626888C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*913T>C56623INPP5EUncertain significancers886063708RCV000264105; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323214139323214AGNC_000009.11:g.139323214A>GClinGen:CA10633007C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*816A>G56623INPP5EBenignrs8413RCV000321574; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323311139323311TCNC_000009.11:g.139323311T>CClinGen:CA10629589C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*811G>A56623INPP5EUncertain significancers778109117RCV001168534; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323316139323316CT9:g.139323316C>T-
NM_019892.6(INPP5E):c.*763G>C56623INPP5EUncertain significancers564573606RCV000374015; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323364139323364CGNC_000009.11:g.139323364C>GClinGen:CA10633009C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*747T>C56623INPP5EUncertain significancers191248562RCV000281848; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323380139323380AGNC_000009.11:g.139323380A>GClinGen:CA10629590C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*727C>T56623INPP5EUncertain significancers886063709RCV000317667; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323400139323400GANC_000009.11:g.139323400G>AClinGen:CA10626889C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*721C>T56623INPP5EUncertain significancers886063710RCV000388568; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323406139323406GANC_000009.11:g.139323406G>AClinGen:CA10633242C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*703A>G56623INPP5EBenignrs1128874RCV000296422; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323424139323424TCNC_000009.11:g.139323424T>CClinGen:CA10633015C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*630G>A56623INPP5EUncertain significancers539039743RCV000348979; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323497139323497CTNC_000009.11:g.139323497C>TClinGen:CA10633017C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*582C>T56623INPP5EUncertain significancers931605716RCV001169290; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323545139323545GA9:g.139323545G>A-
NM_019892.6(INPP5E):c.*559C>T56623INPP5EUncertain significancers1835639348RCV001169291; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323568139323568GA9:g.139323568G>A-
NM_019892.6(INPP5E):c.*484C>G56623INPP5EUncertain significancers1358870988RCV001169292; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323643139323643GC9:g.139323643G>C-
NM_019892.6(INPP5E):c.*328T>C56623INPP5EBenignrs35763810RCV000390164|RCV001692069; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN5172029139323799139323799AGNC_000009.11:g.139323799A>GClinGen:CA10629599C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*235A>G56623INPP5EUncertain significancers376604726RCV000290483; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323892139323892TCNC_000009.11:g.139323892T>CClinGen:CA10633243C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*213C>T56623INPP5EUncertain significancers544203657RCV001166353; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139323914139323914GA9:g.139323914G>A-
NM_019892.6(INPP5E):c.*98G>A56623INPP5EBenign/Likely benignrs35873563RCV000347672|RCV001692070; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN5172029139324029139324029CTNC_000009.11:g.139324029C>TClinGen:CA10633250C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.*13G>A56623INPP5EUncertain significancers199734968RCV001166354; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139324114139324114CT9:g.139324114C>T-
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter)56623INPP5ELikely pathogenicrs763184652RCV001197573; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139324165139324165GA9:g.139324165G>A-
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=)56623INPP5EBenignrs33982662RCV000117271|RCV000391288|RCV001095305|RCV001705836; NMedGen: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:CN5172029139324737139324737CA9:g.139324737C>AClinGen:CA153167C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=)56623INPP5EBenignrs10870182RCV000117269|RCV000360862|RCV001095307|RCV001730524; NMedGen: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,Orphan9139324740139324740CT9:g.139324740C>TClinGen:CA153164C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=)56623INPP5EConflicting interpretations of pathogenicityrs10870182RCV000117270|RCV000308485|RCV001095306|RCV001311042; NMedGen: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:CN5172029139324740139324740CG9:g.139324740C>GClinGen:CA153166C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys)56623INPP5EUncertain significancers1564431175RCV000785904; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139324768139324768TC9:g.139324768T>C-
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=)56623INPP5EConflicting interpretations of pathogenicityrs368026621RCV000391284|RCV000436637|RCV001095319; NHuman 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:2133009139324788139324788CTNC_000009.11:g.139324788C>TClinGen:CA5336672C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg)56623INPP5EConflicting interpretations of pathogenicityrs147967974RCV000302693|RCV000489191|RCV001095320; NHuman 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:2133009139324801139324801GCNC_000009.11:g.139324801G>CClinGen:CA5336675
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His)56623INPP5EPathogenicrs121918128RCV000022403; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139324843139324843CT9:g.139324843C>TClinGen:CA259596,UniProtKB:Q9NRR6#VAR_063016,OMIM:613037.0003CN119531 213300 Joubert syndrome 1;
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=)56623INPP5EConflicting interpretations of pathogenicityrs760729838RCV001166876|RCV002067815; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139324845139324845GA9:g.139324845G>A-
NM_019892.6(INPP5E):c.1666-12A>G56623INPP5EUncertain significancers372545147RCV001198895|RCV001876283; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139324877139324877TC9:g.139324877T>C-
NM_019892.6(INPP5E):c.1649_1651dup (p.Arg550dup)56623INPP5EUncertain significancers778019120RCV001037230|RCV001335945; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139325467139325468GGTCC9:g.139325467_139325468insTCC-
NM_019892.6(INPP5E):c.1550-14C>T56623INPP5EBenign/Likely benignrs181576122RCV000245901|RCV000359523|RCV001512536; NMedGen: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:4759139325583139325583GANC_000009.11:g.139325583G>AClinGen:CA5336729C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg)56623INPP5EUncertain significancers13294000RCV001166877|RCV001873546; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139326278139326278TC9:g.139326278T>C-
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp)56623INPP5ELikely pathogenicrs13297509RCV000022402|RCV001851510; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139326282139326282GA9:g.139326282G>AClinGen:CA259595,UniProtKB:Q9NRR6#VAR_063015,OMIM:613037.0002CN119531 213300 Joubert syndrome 1;
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=)56623INPP5EConflicting interpretations of pathogenicityrs780119172RCV000875432|RCV001401870|RCV001166878; NMedGen:CN517202|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:2133009139326295139326295GA9:g.139326295G>A-
NM_019892.6(INPP5E):c.1521C>T (p.His507=)56623INPP5EBenignrs10870188RCV000117267|RCV000262680|RCV001095321|RCV001730523; NMedGen: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,Orphan9139326304139326304GA9:g.139326304G>AClinGen:CA153160C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=)56623INPP5EConflicting interpretations of pathogenicityrs74880446RCV000320108|RCV001095322|RCV001718790; NHuman 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:CN5172029139326319139326319CTNC_000009.11:g.139326319C>TClinGen:CA5336769C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=)56623INPP5EConflicting interpretations of pathogenicityrs754015058RCV000925655|RCV001168594; NMedGen:CN517202|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139326346139326346CT9:g.139326346C>T-
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg)56623INPP5EUncertain significancers768384414RCV001168595|RCV001245821; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139326372139326372CT9:g.139326372C>T-
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=)56623INPP5EConflicting interpretations of pathogenicityrs377483407RCV000353915|RCV002058785; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139326418139326418GANC_000009.11:g.139326418G>AClinGen:CA5336801C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile)56623INPP5EUncertain significancers750331066RCV001168596|RCV001238911|RCV001376392; NMONDO: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:0000510,Human Phenotype Ontology:HP:0001129139326432139326432CT9:g.139326432C>T-
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val)56623INPP5EUncertain significancers199956627RCV000985083|RCV001338742|RCV001844251; NMONDO: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:CN1693749139326437139326437GA9:g.139326437G>A-
NM_019892.6(INPP5E):c.1388-5C>T56623INPP5EConflicting interpretations of pathogenicityrs187956407RCV000260443|RCV000868722|RCV001476344; NMONDO: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:4759139326442139326442GANC_000009.11:g.139326442G>AClinGen:CA5336810C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1388-13C>T56623INPP5EBenignrs78828148RCV000248077|RCV000332039|RCV001515692|RCV001529214; NMedGen: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:CN5172029139326450139326450GA9:g.139326450G>AClinGen:CA5336811C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr)56623INPP5EUncertain significancers200837258RCV000388805|RCV001865249; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139326934139326934CTNC_000009.11:g.139326934C>TClinGen:CA10633254C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=)56623INPP5EConflicting interpretations of pathogenicityrs145543466RCV000292228|RCV000599895|RCV002058786; NMONDO: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:4759139326938139326938GANC_000009.11:g.139326938G>AClinGen:CA5336833C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1360G>A (p.Asp454Asn)56623INPP5EUncertain significancers138150684RCV001201612|RCV001335944; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139326958139326958CT9:g.139326958C>T-
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=)56623INPP5EBenignrs35774078RCV000117266|RCV000330969|RCV001095350; NMedGen: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:2133009139326959139326959GA9:g.139326959G>AClinGen:CA153158C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile)56623INPP5EUncertain significancers201043370RCV000383155|RCV001095351; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139326993139326993GANC_000009.11:g.139326993G>AClinGen:CA5336842C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His)56623INPP5EUncertain significancers1835733198RCV001197599; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139327006139327006CG9:g.139327006C>G-
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln)56623INPP5EPathogenicrs121918129RCV000022404|RCV000201569|RCV001073387; NMONDO: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:0007739139327014139327014CT9:g.139327014C>TUniProtKB:Q9NRR6#VAR_063013,OMIM:613037.0004,ClinGen:CA259597C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=)56623INPP5EBenignrs10870194RCV000117265|RCV000291204|RCV001095352|RCV001705835|RCV001730522; NMedGen: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,OM9139327034139327034AG9:g.139327034A>GClinGen:CA153156C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1279+14T>C56623INPP5EUncertain significancers886063711RCV000343852; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139327394139327394AGNC_000009.11:g.139327394A>GClinGen:CA10626893C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=)56623INPP5EBenignrs10781542RCV000117264|RCV000400377|RCV001095353|RCV001705834|RCV001730521; NMedGen: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,OM9139327439139327439AG9:g.139327439A>GClinGen:CA153154C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met)56623INPP5EUncertain significancers200033750RCV001169361|RCV001343710; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139327495139327495CT9:g.139327495C>T-
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=)56623INPP5EConflicting interpretations of pathogenicityrs558778286RCV000192872|RCV000285933|RCV001095354; NMedGen: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:2133009139327496139327496GANC_000009.11:g.139327496G>AClinGen:CA205994C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1159+16_1159+33del56623INPP5EUncertain significancers1239490197RCV001267699; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139327574139327591TTCCAGCCGCGCCCACCCCT9:g.139327574_139327591del-
NM_019892.6(INPP5E):c.1159+8C>T56623INPP5EBenignrs73566945RCV000117263|RCV000343178|RCV001095355|RCV001705833; NMedGen: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:CN5172029139327599139327599GA9:g.139327599G>AClinGen:CA153153C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys)56623INPP5EConflicting interpretations of pathogenicityrs200518324RCV000303395|RCV001408981; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139327630139327630CTNC_000009.11:g.139327630C>TClinGen:CA5336941C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys)56623INPP5EPathogenic/Likely pathogenicrs121918130RCV000022405|RCV000636941|RCV000735369|RCV001267543|RCV001550720; NMONDO: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:CN5172029139327634139327634GANC_000009.11:g.139327634G>AClinGen:CA259598,UniProtKB:Q9NRR6#VAR_063012,OMIM:613037.0005
NM_019892.6(INPP5E):c.1104C>T (p.His368=)56623INPP5EConflicting interpretations of pathogenicityrs148592275RCV000337294|RCV000867407|RCV002058787; NMONDO: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:4759139327662139327662GANC_000009.11:g.139327662G>AClinGen:CA5336950C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=)56623INPP5EConflicting interpretations of pathogenicityrs746782404RCV001166422|RCV002067810; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139327692139327692CT9:g.139327692C>T-
NM_019892.6(INPP5E):c.1034+8G>A56623INPP5EConflicting interpretations of pathogenicityrs201272028RCV001166423|RCV001519254; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139328481139328481CT9:g.139328481C>T-
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser)56623INPP5EConflicting interpretations of pathogenicityrs780882740RCV000201735|RCV001267700|RCV001775666; NHuman 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:CN5172029139328502139328502CTNC_000009.11:g.139328502C>TClinGen:CA277795C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg)56623INPP5EUncertain significancers368235861RCV001166424; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139328514139328514CG9:g.139328514C>G-
NM_019892.6(INPP5E):c.981C>T (p.Ala327=)56623INPP5EBenignrs35498378RCV000117277|RCV000391578|RCV001095310|RCV001705837; NMedGen: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:CN5172029139328542139328542GA9:g.139328542G>AClinGen:CA153179C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.972A>G (p.Pro324=)56623INPP5EBenignrs10870199RCV000117276|RCV000297520|RCV001095311|RCV001730525; NMedGen: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,Orphan9139328551139328551TC9:g.139328551T>CClinGen:CA153177C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.875G>A (p.Arg292His)56623INPP5EUncertain significancers199873582RCV000194920|RCV001044083|RCV001166425; NMedGen: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:2133009139329253139329253CTNC_000009.11:g.139329253C>TClinGen:CA209401CN169374 not specified;
NM_019892.6(INPP5E):c.813-5C>G56623INPP5EBenign/Likely benignrs186462782RCV000477158|RCV001166952|RCV001556105|RCV001701018; NHuman 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:CN1693749139329320139329320GCNC_000009.11:g.139329320G>CClinGen:CA5337060C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.813-8C>T56623INPP5EConflicting interpretations of pathogenicityrs373176644RCV000369602|RCV001095323|RCV001712166; NHuman 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:CN5172029139329323139329323GANC_000009.11:g.139329323G>AClinGen:CA5337062C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.812+7_812+10del56623INPP5EBenignrs5901103RCV000243300|RCV000311422|RCV001722336|RCV001730636|RCV001730635; NMedGen: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,OM9139333050139333053GCCCTGNC_000009.11:g.139333050CCCT[1]ClinGen:CA5337073C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.791G>A (p.Arg264His)56623INPP5EBenignrs202197173RCV000251292|RCV000368479|RCV001095324; NMedGen: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:2133009139333081139333081CT9:g.139333081C>TClinGen:CA5337076C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.636C>A (p.Val212=)56623INPP5EBenignrs34071122RCV000117275|RCV000271552|RCV001095325; NMedGen: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:2133009139333236139333236GT9:g.139333236G>TClinGen:CA153175C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile)56623INPP5EConflicting interpretations of pathogenicityrs143107549RCV000839869|RCV001088844|RCV001335948; NMedGen:CN517202|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:2133009139333249139333249GANC_000009.11:g.139333249G>AClinGen:CA5337119C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met)56623INPP5EBenign/Likely benignrs36064831RCV000117274|RCV000205119|RCV001095326|RCV001727573; NMedGen: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:CN5172029139333269139333269GC9:g.139333269G>CClinGen:CA153173,UniProtKB:Q9NRR6#VAR_047078C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala)56623INPP5EUncertain significancers200223403RCV001166953|RCV001343368; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:4759139333292139333292GC9:g.139333292G>C-
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser)56623INPP5EUncertain significancers754964359RCV000381186|RCV001095327; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139333325139333325GANC_000009.11:g.139333325G>AClinGen:CA5337139C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.531C>A (p.Ala177=)56623INPP5EBenignrs58206296RCV000117273|RCV000270307|RCV001095328; NMedGen: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:2133009139333341139333341GT9:g.139333341G>TClinGen:CA153171C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.510C>G (p.Asn170Lys)56623INPP5EUncertain significancers778210239RCV001053283|RCV001335947; NHuman Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139333362139333362GC9:g.139333362G>C-
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp)56623INPP5EUncertain significancers78211353RCV001039160|RCV001168667|RCV001556039; NHuman 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:CN5172029139333403139333403CA9:g.139333403C>A-
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr)56623INPP5EConflicting interpretations of pathogenicityrs187724945RCV000868426|RCV001168668|RCV001487906; NMedGen: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:4759139333568139333568CA9:g.139333568C>A-
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys)56623INPP5EUncertain significancers886063713RCV000322670; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139333736139333736CTNC_000009.11:g.139333736C>TClinGen:CA10633271C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.33C>G (p.Ser11=)56623INPP5EBenignrs79161998RCV000117272|RCV000379655|RCV001095345; NMedGen: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:2133009139333839139333839GC9:g.139333839G>CClinGen:CA153169C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.21T>C (p.Asn7=)56623INPP5EConflicting interpretations of pathogenicityrs571588033RCV000282860|RCV001095346|RCV001707685; NHuman 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:CN5172029139333851139333851AGNC_000009.11:g.139333851A>GClinGen:CA5337213C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-31G>C56623INPP5ELikely benignrs554931078RCV000243056|RCV000340185; NMedGen:CN169374|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139333902139333902CG9:g.139333902C>GClinGen:CA5337218C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-41C>T56623INPP5EUncertain significancers1170873095RCV001168669; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139333912139333912GA9:g.139333912G>A-
NM_019892.6(INPP5E):c.-149C>T56623INPP5EUncertain significancers1386453934RCV001168670; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139334020139334020GA9:g.139334020G>A-
NM_019892.6(INPP5E):c.-174G>A56623INPP5EBenign/Likely benignrs544247720RCV000373937|RCV000834550; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MedGen:CN5172029139334045139334045CTNC_000009.11:g.139334045C>TClinGen:CA10633272C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-175C>T56623INPP5EUncertain significancers868202242RCV001169431; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139334046139334046GA9:g.139334046G>A-
NM_019892.6(INPP5E):c.-239C>G56623INPP5EUncertain significancers562519905RCV000281768; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139334110139334110GCNC_000009.11:g.139334110G>CClinGen:CA10626910C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-271C>T56623INPP5EUncertain significancers886063714RCV000334503; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139334142139334142GANC_000009.11:g.139334142G>AClinGen:CA10629606C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-343T>C56623INPP5EUncertain significancers886063715RCV000399112; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139334214139334214AGNC_000009.11:g.139334214A>GClinGen:CA10633277C0431399 Joubert syndrome;
NM_019892.6(INPP5E):c.-347G>A56623INPP5EUncertain significancers886063716RCV000314073; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133009139334218139334218CTNC_000009.11:g.139334218C>TClinGen:CA10626911C0431399 Joubert syndrome;
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg)79778MICALL2Pathogenicrs556808514RCV000416431; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300714848551484855GCNC_000007.13:g.1484855G>CClinGen:CA16044225CN119531 213300 Joubert syndrome 1;
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser)148867SLC30A7Pathogenicrs1057519442RCV000416450; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133001101377773101377774CAAGNC_000001.10:g.101377773_101377774delinsAGClinGen:CA16044212CN119531 213300 Joubert syndrome 1;
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)65062TMEM237Conflicting interpretations of pathogenicityrs372686071RCV000243342|RCV000402180|RCV000986978; NMedGen:CN169374|MONDO:MONDO:0013745,MedGen:C3280766,OMIM:614424|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:2133002202492057202492057TC2:g.202492057T>CClinGen:CA2056327C0431399 Joubert syndrome;
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)91147TMEM67Conflicting interpretations of pathogenicityrs140191346RCV000174181|RCV000988094|RCV001356583|RCV001409831; NMedGen: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,OM89479463594794635AG8:g.94794635A>GClinGen:CA200867CN169374 not specified;
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs)91147TMEM67Pathogenicrs1586074742RCV000988095; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:21330089481194594811946GGCAGTGTCT8:g.94811945_94811946insCAGTGTCT-
NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu)91147TMEM67Uncertain significancers1586090222RCV000988096; NMONDO:MONDO:0008944,MedGen:C4551568,OMIM:21330089482111394821113CG8:g.94821113C>G-
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)79809TTC21BConflicting interpretations of pathogenicityrs146496725RCV000176426|RCV000415806|RCV000986865|RCV001085304|RCV001135582|RCV001135581|RCV001171333; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OM2166747445166747445GC2:g.166747445G>CClinGen:CA201936,UniProtKB:Q7Z4L5#VAR_065544C0265275 Jeune thoracic dystrophy;
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser)79809TTC21BConflicting interpretations of pathogenicityrs149925563RCV000179530|RCV000724482|RCV000986867|RCV001087340|RCV001132639|RCV001132638; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008944,MedGen:C4551568,OMIM:213300|MONDO:MONDO:0018770,MedGen:C0265275,OMIM:PS208500, Orphanet:474; Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OM2166797556166797556TA2:g.166797556T>AClinGen:CA246806,UniProtKB:Q7Z4L5#VAR_065520CN169374 not specified;
MSeqDR Portal