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Cerebellar Diseases (D002526)
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Kidney Diseases, Cystic (D052177)
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Retinal Degeneration (D012162)
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Joubert syndrome 4 (C536296)

       Child Nodes:



 Sister Nodes: 
..expandCohen syndrome (C536438)
..expandEncephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..expandEnhanced S-Cone Syndrome (C564835)
..expandHyaloideoretinal degeneration of Wagner (C536075)
..expandINFANTILE CEREBELLAR-RETINAL DEGENERATION (OMIM:614559)  LSDB  L: 00108;
..expandJoubert syndrome 4 (C536296)
..expandKnobloch syndrome (C537209)
..expandLate-Onset Retinal Degeneration (C565309)
..expandLattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..expandMacKay Shek Carr syndrome (C538364)
..expandMacular Degeneration (D008268) Child28
..expandMicrophthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..expandMYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION (OMIM:614292)
..expandNoble Bass Sherman syndrome (C536124)
..expandNorrie disease (C537849)
..expandPigmented Paravenous Chorioretinal Atrophy (C566801)
..expandRetinal Cone Dystrophy 1 (C566719)
..expandRetinal Degeneration and Epilepsy (C564847)
..expandRetinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..expandRetinal Drusen (D015593) Child2
..expandRetinal Dystrophies (D058499) Child143  LSDB C:2
..expandRetinoschisis (D041441) Child1
..expandSnowflake vitreoretinal degeneration (C536677)
..expandSpastic paraplegia 15, autosomal recessive (C536642)
..expandSTICKLER SYNDROME, TYPE IV (OMIM:614134)
..expandSTICKLER SYNDROME, TYPE V (OMIM:614284)
..expandSveinsson Chorioretinal Atrophy (C566236)
..expandVitreoretinochoroidopathy (C536352)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6564
Name:Joubert syndrome 4
Definition:
Alternative IDs:DO:DOID:0110999|OMIM:609583
ParentIDs:MESH:D002526|MESH:D012162|MESH:D052177
TreeNumbers:C10.228.140.252/C536296 |C11.270.612/C536296 |C11.768.585/C536296 |C12.777.419.403/C536296 |C13.351.968.419.403/C536296
Synonyms:JBTS4
Slim Mappings:Eye disease|Nervous system disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C536296
MeSH: C536296
OMIM: 609583;
MSeqDR LSDB:  
Genes: NPHP1;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001251Ataxia
3 HP:0001320Cerebellar vermis hypoplasia
4 HP:0100543Cognitive impairment
NAMDC:  Cognitive delay
5 HP:0002194Delayed gross motor development
NAMDC:  Gross motor delay
6 HP:0011933Elongated superior cerebellar peduncle
7 HP:0001290Generalized hypotonia
8 HP:0001425Heterogeneous
9 HP:0000571Hypometric saccades
10 HP:0002419Molar tooth sign on MRI
11 HP:0000090Nephronophthisis
12 HP:0000639Nystagmus
13 HP:0000657Oculomotor apraxia
14 HP:0000083Renal insufficiency
15 HP:0002404Thickened superior cerebellar peduncle
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000002.12:g.110069919_110205214del-1MALL;NPHP1Pathogenic-1RCV001250199; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110827496110962791nana-1-
GRCh37/hg19 2q13(chr2:110880893-110962659)4867NPHP1Pathogenic-1RCV001536133; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592; MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156; MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110880893110962659nana-1-
NC_000002.12:g.110123331A>T4867NPHP1Uncertain significancers960612307RCV001131223|RCV001131224|RCV001131225; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:935922110880908110880908AT2:g.110880908A>T-
GRCh37/hg19 2q13(chr2:110880925-110962590)4867NPHP1Pathogenic-1RCV001535966; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592; MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156; MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110880925110962590nana-1-
NM_001128178.3(NPHP1):c.*322A>G4867NPHP1Uncertain significancers886054752RCV000293749|RCV000348740|RCV000374254; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:935922110881046110881046TCNC_000002.11:g.110881046T>CClinGen:CA10610585C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.*250C>T4867NPHP1Uncertain significancers150558683RCV000313823|RCV000345448|RCV000390226; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:935922110881118110881118GANC_000002.11:g.110881118G>AClinGen:CA10611862C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.*238T>C4867NPHP1Uncertain significancers897567205RCV001134188|RCV001134189|RCV001134187; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:935922110881130110881130AG2:g.110881130A>G-
NM_001128178.3(NPHP1):c.*199A>G4867NPHP1Uncertain significancers1679131109RCV001134190|RCV001134191|RCV001135694; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110881169110881169TC2:g.110881169T>C-
NM_001128178.3(NPHP1):c.*194T>C4867NPHP1Conflicting interpretations of pathogenicityrs189472793RCV001135697|RCV001135695|RCV001135696; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:31562110881174110881174AG2:g.110881174A>G-
NM_001128178.3(NPHP1):c.1933G>A (p.Ala645Thr)4867NPHP1Uncertain significancers201077898RCV001332331|RCV001865750; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:6552110881469110881469CT110881469-
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=)4867NPHP1Uncertain significancers200631256RCV000310472|RCV000365164|RCV001094594|RCV000730798|RCV000401330; NHuman Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100,Orphan2110881470110881470GANC_000002.11:g.110881470G>AClinGen:CA1826844C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.1804C>G (p.His602Asp)4867NPHP1Uncertain significancers538690900RCV001128697|RCV001128698|RCV001128699; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110881598110881598GC2:g.110881598G>C-
NM_001128178.3(NPHP1):c.1761+5A>C4867NPHP1Uncertain significancers201030203RCV000685833|RCV001128700|RCV001128701|RCV001128702; NHuman Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphan2110883209110883209TG2:g.110883209T>G-C0687120 Nephronophthisis;
NM_001128178.3(NPHP1):c.1721C>T (p.Ser574Leu)4867NPHP1Uncertain significancers138181219RCV000264267|RCV000303007|RCV000360073|RCV001242392; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|Human Phenotype Ontology:HP:0000090,Human Phenotype2110883254110883254GANC_000002.11:g.110883254G>AClinGen:CA1826911C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.1717-5T>G4867NPHP1Uncertain significancers1679303713RCV001131328|RCV001131330|RCV001131329; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:31562110883263110883263AC2:g.110883263A>C-
NM_001128178.3(NPHP1):c.1716+15T>C4867NPHP1Conflicting interpretations of pathogenicityrs368590150RCV001131331|RCV001131332|RCV001134326|RCV001856698; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|Human Phenotype Ontology:HP:0000090,Human Phenotype2110886748110886748AG2:g.110886748A>G-
NM_001128178.3(NPHP1):c.1708G>A (p.Ala570Thr)4867NPHP1Uncertain significancers372893275RCV001335217; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110886771110886771CT110886771-
NM_001128178.3(NPHP1):c.1693C>A (p.Pro565Thr)4867NPHP1Uncertain significancers147090619RCV001134327|RCV001134329|RCV001134328; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:31562110886786110886786GT2:g.110886786G>T-
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter)4867NPHP1Pathogenicrs547352656RCV001332330|RCV001382647|RCV001536104; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphan2110889310110889310GA110889310-
NM_001128178.3(NPHP1):c.1534C>T (p.Leu512=)4867NPHP1Uncertain significancers1679799639RCV001134331|RCV001134332|RCV001134330; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110889364110889364GA2:g.110889364G>A-
NM_001128178.3(NPHP1):c.1522G>C (p.Val508Leu)4867NPHP1Uncertain significancers573192954RCV000315759|RCV000267736|RCV000354240|RCV000501648; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MedGen:CN1693742110901126110901126CGNC_000002.11:g.110901126C>GClinGen:CA1826996C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.1469G>A (p.Arg490Lys)4867NPHP1Conflicting interpretations of pathogenicityrs149887461RCV000261599|RCV000319080|RCV000385395|RCV000591051|RCV001094595|RCV001549752; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100,Orpha2110901179110901179CTNC_000002.11:g.110901179C>TClinGen:CA1827002C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.1279G>C (p.Glu427Gln)4867NPHP1Uncertain significancers886054753RCV000293428|RCV000334175|RCV000381757; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:935922110904403110904403CGNC_000002.11:g.110904403C>GClinGen:CA10610999C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.1165C>T (p.Arg389Cys)4867NPHP1Uncertain significancers375907280RCV000289524|RCV000346804|RCV001094551|RCV000729703|RCV000394876|RCV000765498; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MedGen:CN517202|Human Phenotype Ontology:HP:00000902110905597110905597GANC_000002.11:g.110905597G>AClinGen:CA1827100C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile)4867NPHP1Conflicting interpretations of pathogenicityrs140469160RCV000283874|RCV000290776|RCV000341089|RCV000399532|RCV001094552; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MedGen:CN517202|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMI2110919181110919181GA2:g.110919181G>AClinGen:CA1827170C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=)4867NPHP1Conflicting interpretations of pathogenicityrs371112962RCV000173662|RCV000305677|RCV000353470|RCV000390136|RCV001094562; NMedGen:CN517202|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0009962,MedGen:C4551559,OM2110919267110919267TC2:g.110919267T>CClinGen:CA239098C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.820G>C (p.Gly274Arg)4867NPHP1Uncertain significancers886054754RCV000274290|RCV000299909|RCV000357140; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:935922110920664110920664CGNC_000002.11:g.110920664C>GClinGen:CA10611870C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr)4867NPHP1Conflicting interpretations of pathogenicityrs114250691RCV000363080|RCV000765499|RCV001084490; NMedGen:CN517202|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156; MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592; MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:00000902110920681110920681AG2:g.110920681A>GClinGen:CA1827217CN169374 not specified;
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=)4867NPHP1Conflicting interpretations of pathogenicityrs141763330RCV000277110|RCV000331691|RCV000369975|RCV000595688|RCV001094593; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet2110920683110920683CTNC_000002.11:g.110920683C>TClinGen:CA1827219C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.772-5T>C4867NPHP1Uncertain significancers201478764RCV000592386|RCV001134447|RCV001134448|RCV001134446; NMedGen:CN517202|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:935922110920717110920717AG2:g.110920717A>GClinGen:CA1827225CN169374 not specified;
NM_001128178.3(NPHP1):c.771+178C>T4867NPHP1Conflicting interpretations of pathogenicityrs767903893RCV001134449|RCV001134450|RCV001134451|RCV001481343; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype2110922087110922087GA2:g.110922087G>A-
NM_001128178.3(NPHP1):c.771+169G>T4867NPHP1Likely pathogenicrs150520157RCV001203841|RCV001535975; NHuman Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156; MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet2110922096110922096CA2:g.110922096C>A-
NM_001128178.3(NPHP1):c.771+148G>T4867NPHP1Uncertain significancers753796140RCV001135915|RCV001135917|RCV001135916; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110922117110922117CA2:g.110922117C>A-
NM_001128178.3(NPHP1):c.771+89A>G4867NPHP1Uncertain significancers139787582RCV000290000|RCV000325159|RCV000381986|RCV001094596|RCV000732923; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900,Orphan2110922176110922176TCNC_000002.11:g.110922176T>CClinGen:CA1827267C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.771+59G>A4867NPHP1Benign/Likely benignrs143174377RCV000180121|RCV000283997|RCV000328453|RCV000376065|RCV001094597|RCV001706150; NMedGen:CN169374|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMI2110922206110922206CT2:g.110922206C>TClinGen:CA203564C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val)4867NPHP1Benign/Likely benignrs113450177RCV000223966|RCV000244219|RCV001128921|RCV001128920|RCV001128922|RCV001084952; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|Human Phenotype Ont2110922668110922668GA2:g.110922668G>AClinGen:CA1827310C0687120 Nephronophthisis;
NM_001128178.3(NPHP1):c.669C>T (p.Gly223=)4867NPHP1Uncertain significancers886054755RCV000300890|RCV000335771|RCV000399200; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110922688110922688GANC_000002.11:g.110922688G>AClinGen:CA10611873C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=)4867NPHP1Benignrs11675767RCV000078490|RCV000313743|RCV000367290|RCV000400518|RCV001094567; NMedGen:CN169374|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMI2110922703110922703CT2:g.110922703C>TClinGen:CA145975C0431399 Joubert syndrome;
NM_000272.3(NPHP1):c.625-3dup4867NPHP1Conflicting interpretations of pathogenicityrs200118387RCV000144477|RCV000490473|RCV000728486|RCV001521519; NMONDO:MONDO:0018998,MeSH:D057130,MedGen:C0339527,OMIM:PS204000, Orphanet:65|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592; MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497; MONDO:MONDO:0009962,MedGen:C4551559,OM2110922740110922740TTANC_000002.11:g.110922740dupClinGen:CA270792C1846790 609583 Joubert syndrome 4;
NM_001128178.3(NPHP1):c.593A>G (p.Asn198Ser)4867NPHP1Uncertain significancers886054756RCV000264341|RCV000321777|RCV000366304; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110926060110926060TCNC_000002.11:g.110926060T>CClinGen:CA10611788C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.555del (p.Lys185fs)4867NPHP1Pathogenicrs766524637RCV000791573|RCV001260993; NHuman Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:655|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110926098110926098GTG2:g.110926098_110926098del-
NM_001128178.3(NPHP1):c.460G>A (p.Gly154Ser)4867NPHP1Uncertain significancers769509705RCV000730187|RCV001132627|RCV001132628|RCV001132629|RCV001855631; NMedGen:CN517202|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|Human Phenotype Ontology:HP:00000902110927445110927445CTNC_000002.11:g.110927445C>T-
NM_001128178.3(NPHP1):c.456A>G (p.Ser152=)4867NPHP1Conflicting interpretations of pathogenicityrs143163969RCV000267804|RCV000315824|RCV000378671|RCV000929993|RCV001487646; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MedGen:CN517202|Human Phenotype Ontology:HP:00000902110927449110927449TCNC_000002.11:g.110927449T>CClinGen:CA1827390C0431399 Joubert syndrome;
NM_001128178.3(NPHP1):c.352G>A (p.Glu118Lys)4867NPHP1Uncertain significancers1408606648RCV001135999|RCV001136001|RCV001136000; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:935922110927553110927553CT2:g.110927553C>T-
NM_001128178.3(NPHP1):c.240G>A (p.Gln80=)4867NPHP1Conflicting interpretations of pathogenicityrs767719020RCV001136002|RCV001136003|RCV001136004|RCV001412525; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|Human Phenotype Ontology:HP:0000090,Human Phenotype2110936089110936089CT2:g.110936089C>T-
NM_001128178.3(NPHP1):c.223G>C (p.Val75Leu)4867NPHP1Uncertain significancers760772706RCV001262795|RCV001880047; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|Human Phenotype Ontology:HP:0000090,Human Phenotype Ontology:HP:0004748,MONDO:MONDO:0019005,MedGen:C0687120,OMIM:PS256100, Orphanet:6552110936106110936106CG2:g.110936106C>G-
NM_001128178.3(NPHP1):c.137A>G (p.Tyr46Cys)4867NPHP1Uncertain significancers1212780955RCV001129033|RCV001129034|RCV001129032|RCV001217848; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|Human Phenotype Ontology:HP:0000090,Human Phenotype2110959004110959004TC2:g.110959004T>C-
NM_001128178.3(NPHP1):c.30C>T (p.Leu10=)4867NPHP1Uncertain significancers977347524RCV001131718|RCV001131719|RCV001131720; NMONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:2204972110962516110962516GA2:g.110962516G>A-
NM_001128178.3(NPHP1):c.-17G>A4867NPHP1Likely benignrs566875282RCV001131722|RCV001131721|RCV001132721|RCV001568883; NMONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:3156|MONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MedGen:CN5172022110962562110962562CT2:g.110962562C>T-
NC_000002.12:g.110205022G>A4867NPHP1Uncertain significancers777453061RCV001132724|RCV001132723|RCV001132722; NMONDO:MONDO:0012308,MedGen:C1846790,OMIM:609583, Orphanet:220497|MONDO:MONDO:0009728,MedGen:C4551979,OMIM:256100, Orphanet:655, Orphanet:93592|MONDO:MONDO:0009962,MedGen:C4551559,OMIM:266900, Orphanet:31562110962599110962599GA2:g.110962599G>A-
MSeqDR Portal