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Ataxia (D001259)
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Cerebellar Diseases (D002526)
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Ocular Motility Disorders (D015835)
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Joubert Syndrome 7 (C566916)

       Child Nodes:



 Sister Nodes: 
..expandAthabaskan brainstem dysgenesis (C535397)
..expandDiffuse Lewy Body Disease with Gaze Palsy (C565077)
..expandDuane Retraction Syndrome (D004370) Child2
..expandFibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..expandFibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..expandFibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..expandFibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence (C566508)
..expandJoubert syndrome 3 (C536295)
..expandJoubert syndrome 5 (C537688)
..expandJoubert syndrome 6 (C537689)
..expandJoubert Syndrome 7 (C566916)
..expandLevator-Medial Rectus Synkinesis (C563625)
..expandMental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..expandMiller Fisher Syndrome (D019846)
..expandNEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET (OMIM:617145)
..expandNystagmus, Pathologic (D009759) Child25
..expandOculomotor Nerve Diseases (D015840) Child4
..expandOphthalmoplegia (D009886) Child41  LSDB C:9
..expandOpsoclonus-Myoclonus Syndrome (D053578) Child1
..expandParoxysmal Tonic Upgaze, Benign Childhood, With Ataxia (C566817)
..expandSetting-Sun Phenomenon, Familial Benign (C563470)
..expandStrabismus (D013285) Child13
..expandTolosa-Hunt Syndrome (D020333) Child1
..expandTukel syndrome (C536925)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:6567
Name:Joubert Syndrome 7
Definition:
Alternative IDs:DO:DOID:0111002|OMIM:611560
ParentIDs:MESH:D001259|MESH:D002526|MESH:D008607|MESH:D015835|MESH:D052177
TreeNumbers:C10.228.140.252/C566916 |C10.228.758/C566916 |C10.292.562/C566916 |C10.597.350.090/C566916 |C10.597.606.360/C566916 |C11.590/C566916 |C12.777.419.403/C566916 |C13.351.968.419.403/C566916 |C23.888.592.350.090/C566916 |C23.888.592.604.646/C566916 |F03.625.539/C56691
Synonyms:JBTS7
Slim Mappings:Eye disease|Mental disorder|Nervous system disease|Signs and symptoms|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C566916
MeSH: C566916
OMIM: 611560;
MSeqDR LSDB:  
Genes: RPGRIP1L;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001273Abnormality of the corpus callosum
3 HP:0001251Ataxia
4 HP:0002508Brainstem dysplasia
5 HP:0002871Central apnea
6 HP:0002084Encephalocele
7 HP:0002876Episodic tachypnea
8 HP:0001290Generalized hypotonia
9 HP:0001263Global developmental delay
NAMDC:  Mental retardation
10 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
11 HP:0001425Heterogeneous
12 HP:0002365Hypoplasia of the brainstem
13 HP:0001249Intellectual disability
14 HP:0002419Molar tooth sign on MRI
15 HP:0002790Neonatal breathing dysregulation
16 HP:0000090Nephronophthisis
17 HP:0000639Nystagmus
18 HP:0000657Oculomotor apraxia
19 HP:0003812Phenotypic variability
20 HP:0001162Postaxial hand polydactyly
21 HP:0000508Ptosis
NAMDC:  Ptosis
22 HP:0000107Renal cyst
23 HP:0000556Retinal dystrophy
24 HP:0002650Scoliosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_020366.4(RPGRIP1):c.3238+3A>G57096RPGRIP1Uncertain significancers1389509266RCV001029761; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497142179854921798549AG14:g.21798549A>G-
NM_015272.5(RPGRIP1L):c.*1883C>G23322RPGRIP1LUncertain significancers886052086RCV000307807|RCV000399796|RCV000343872; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165363410553634105GC16:g.53634105G>CClinGen:CA10637952C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*1869A>G23322RPGRIP1LUncertain significancers1224541215RCV001121631|RCV001121632|RCV001121633; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363411953634119TC16:g.53634119T>C-
NM_015272.5(RPGRIP1L):c.*1693G>A23322RPGRIP1LBenignrs1946155RCV000313727|RCV000368366|RCV000407898; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363429553634295CT16:g.53634295C>TClinGen:CA10648542C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*1645A>T23322RPGRIP1LUncertain significancers144554139RCV001116758|RCV001116759|RCV001116760; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165363434353634343TA16:g.53634343T>A-
NM_015272.5(RPGRIP1L):c.*1627G>A23322RPGRIP1LUncertain significancers188203905RCV000273866|RCV000355217|RCV000300937; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363436153634361CT16:g.53634361C>TClinGen:CA10648543C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*1597G>A23322RPGRIP1LUncertain significancers1963334195RCV001116761|RCV001118206|RCV001118207; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363439153634391CT16:g.53634391C>T-
NM_015272.5(RPGRIP1L):c.*1584G>T23322RPGRIP1LUncertain significancers151226475RCV000260902|RCV000316080|RCV000379947; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363440453634404CA16:g.53634404C>AClinGen:CA10647702C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*1510G>A23322RPGRIP1LUncertain significancers140374059RCV001118208|RCV001118210|RCV001118209; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363447853634478CT16:g.53634478C>T-
NM_015272.5(RPGRIP1L):c.*1482G>A23322RPGRIP1LUncertain significancers192765976RCV000266684|RCV000321822|RCV000376370; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363450653634506CT16:g.53634506C>TClinGen:CA10637953C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*1461A>T23322RPGRIP1LUncertain significancers184079732RCV001119750|RCV001119751|RCV001119752; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363452753634527TA16:g.53634527T>A-
NM_015272.5(RPGRIP1L):c.*1385A>G23322RPGRIP1LUncertain significancers150194508RCV001119754|RCV001119753|RCV001121733; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363460353634603TC16:g.53634603T>C-
NM_015272.5(RPGRIP1L):c.*1309C>A23322RPGRIP1LUncertain significancers145688896RCV000345537|RCV000381431|RCV000291351; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363467953634679GT16:g.53634679G>TClinGen:CA10648545C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*1276G>A23322RPGRIP1LUncertain significancers375800554RCV001121734|RCV001121736|RCV001121735; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363471253634712CT16:g.53634712C>T-
NM_015272.5(RPGRIP1L):c.*1207G>A23322RPGRIP1LUncertain significancers561880798RCV000351412|RCV000296466|RCV000400283; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363478153634781CT16:g.53634781C>TClinGen:CA10647703C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*1206C>T23322RPGRIP1LUncertain significancers1437795784RCV001116869|RCV001116870|RCV001116871; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165363478253634782GA16:g.53634782G>A-
NM_015272.5(RPGRIP1L):c.*1035T>C23322RPGRIP1LUncertain significancers763384255RCV000398326|RCV000338543|RCV000311704; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363495353634953AG16:g.53634953A>GClinGen:CA10648547C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*1033G>A23322RPGRIP1LConflicting interpretations of pathogenicityrs145688122RCV001118320|RCV001118321|RCV001118322; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363495553634955CT16:g.53634955C>T-
NM_015272.5(RPGRIP1L):c.*980T>C23322RPGRIP1LUncertain significancers886052087RCV000268439|RCV000353877|RCV000298990; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363500853635008AGNC_000016.9:g.53635008A>GClinGen:CA10643777C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*875A>G23322RPGRIP1LUncertain significancers886052088RCV000270988|RCV000384101|RCV000329502; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363511353635113TCNC_000016.9:g.53635113T>CClinGen:CA10643779C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*851C>A23322RPGRIP1LUncertain significancers138437010RCV001119855|RCV001119857|RCV001119856; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363513753635137GT16:g.53635137G>T-
NM_015272.5(RPGRIP1L):c.*846A>T23322RPGRIP1LUncertain significancers1963365021RCV001119858|RCV001119859|RCV001119860; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165363514253635142TA16:g.53635142T>A-
NM_015272.5(RPGRIP1L):c.*822A>G23322RPGRIP1LUncertain significancers554221378RCV001119861|RCV001121838|RCV001121837; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363516653635166TC16:g.53635166T>C-
NM_015272.5(RPGRIP1L):c.*737T>G23322RPGRIP1LBenignrs3760008RCV000389864|RCV000325996|RCV000295598; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165363525153635251ACNC_000016.9:g.53635251A>CClinGen:CA10647704C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*698T>C23322RPGRIP1LUncertain significancers545786772RCV000350397|RCV000282613|RCV000386283; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363529053635290AGNC_000016.9:g.53635290A>GClinGen:CA10643781C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*626A>C23322RPGRIP1LUncertain significancers886052089RCV000278827|RCV000337586|RCV000401876; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165363536253635362TGNC_000016.9:g.53635362T>GClinGen:CA10648549C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*588A>G23322RPGRIP1LUncertain significancers894081042RCV001115269|RCV001115268|RCV001115270; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363540053635400TC16:g.53635400T>C-
NM_015272.5(RPGRIP1L):c.*532T>C23322RPGRIP1LUncertain significancers184520009RCV000343235|RCV000303545|RCV000401575; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165363545653635456AGNC_000016.9:g.53635456A>GClinGen:CA10647706C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*506T>G23322RPGRIP1LUncertain significancers778362441RCV000309338|RCV000358319|RCV000392861; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363548253635482ACNC_000016.9:g.53635482A>CClinGen:CA10648550C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*491C>G23322RPGRIP1LUncertain significancers35669682RCV001118426|RCV001118428|RCV001118427; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165363549753635497GC16:g.53635497G>C-
NM_015272.5(RPGRIP1L):c.*418G>A23322RPGRIP1LUncertain significancers886052090RCV000277192|RCV000362481|RCV000332325; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363557053635570CTNC_000016.9:g.53635570C>TClinGen:CA10643782C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*332T>G23322RPGRIP1LUncertain significancers544840421RCV000273803|RCV000319540|RCV000368282; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165363565653635656ACNC_000016.9:g.53635656A>CClinGen:CA10647710C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*270G>A23322RPGRIP1LUncertain significancers549065732RCV000279217|RCV000316179|RCV000374229; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363571853635718CTNC_000016.9:g.53635718C>TClinGen:CA10648551C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*269C>T23322RPGRIP1LUncertain significancers190566840RCV000380062|RCV000285571|RCV000340568; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363571953635719GANC_000016.9:g.53635719G>AClinGen:CA10647711C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*262G>A23322RPGRIP1LUncertain significancers563237818RCV000346299|RCV000291260|RCV000396943; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165363572653635726CTNC_000016.9:g.53635726C>TClinGen:CA10643783C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*159T>G23322RPGRIP1LUncertain significancers1963395143RCV001115359|RCV001121939|RCV001121940; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363582953635829AC16:g.53635829A>C-
NM_015272.5(RPGRIP1L):c.*133T>A23322RPGRIP1LUncertain significancers1963396187RCV001115360|RCV001115362|RCV001115361; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363585553635855AT16:g.53635855A>T-
NM_015272.5(RPGRIP1L):c.*125G>T23322RPGRIP1LUncertain significancers868861934RCV001115363|RCV001115364|RCV001115365; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165363586353635863CA16:g.53635863C>A-
NM_015272.5(RPGRIP1L):c.*119C>T23322RPGRIP1LUncertain significancers886052091RCV000306963|RCV000370978|RCV000402269; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165363586953635869GANC_000016.9:g.53635869G>AClinGen:CA10648553C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*107G>A23322RPGRIP1LUncertain significancers770837632RCV001118508|RCV001118510|RCV001118509; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363588153635881CT16:g.53635881C>T-
NM_015272.5(RPGRIP1L):c.*55T>A23322RPGRIP1LBenignrs4784319RCV000312663|RCV000367605|RCV000393136|RCV001613025; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MedGen:CN517202165363593353635933ATNC_000016.9:g.53635933A>TClinGen:CA10643787C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.*53G>A23322RPGRIP1LUncertain significancers1963400312RCV001120034|RCV001120035|RCV001120036; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363593553635935CT16:g.53635935C>T-
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=)23322RPGRIP1LBenignrs4784320RCV000114221|RCV000263578|RCV000318666|RCV000354830|RCV000860438|RCV001271268; NMedGen:CN169374|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedG165363600053636000GA16:g.53636000G>AClinGen:CA150951C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3903C>A (p.Ala1301=)23322RPGRIP1LUncertain significancers773361667RCV001120038|RCV001120037|RCV001120336; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165363603353636033GT16:g.53636033G>T-
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=)23322RPGRIP1LConflicting interpretations of pathogenicityrs759935029RCV000260137|RCV000324659|RCV000379320|RCV000996270|RCV001413863; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedG165363605453636054TC16:g.53636054T>CClinGen:CA8057127C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser)23322RPGRIP1LUncertain significancers377402117RCV000284914|RCV000321256|RCV000385189|RCV000820913|RCV001276306; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165363609753636097AGNC_000016.9:g.53636097A>GClinGen:CA8057138C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3824A>G (p.Gln1275Arg)23322RPGRIP1LUncertain significancers776310931RCV001115442|RCV001115443|RCV001120337; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165363940453639404TC16:g.53639404T>C-
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn)23322RPGRIP1LBenign/Likely benignrs3213758RCV000127803|RCV000114220|RCV000291008|RCV000343585|RCV000388776|RCV001083706|RCV001271269; NMedGen:CN517202|MedGen:CN169374|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype O165363943853639438CT16:g.53639438C>TClinGen:CA150948,UniProtKB:Q68CZ1#VAR_039398C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3769G>A (p.Val1257Met)23322RPGRIP1LUncertain significancers536037779RCV001115445|RCV001115444|RCV001115446|RCV001243044|RCV001833714; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165363945953639459CT16:g.53639459C>T-
NM_015272.5(RPGRIP1L):c.3719T>C (p.Val1240Ala)23322RPGRIP1LUncertain significancers201248643RCV000195078|RCV000727656|RCV001118605|RCV001118606|RCV001118604|RCV001245252|RCV001835717; NMedGen:CN169374|MedGen:CN517202|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype O165363950953639509AGNC_000016.9:g.53639509A>GClinGen:CA209656CN169374 not specified;
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys)23322RPGRIP1LUncertain significancers151332923RCV000224065|RCV000764074|RCV001057372|RCV001118609|RCV001118607|RCV001118608|RCV001271270|RCV001334835; NMedGen:CN517202|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564; MONDO:MONDO:0008996,MedGen:C5435651,OMIM:216360, Orphanet:1454; MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,165363952253639522GA16:g.53639522G>AClinGen:CA8057196CN517202 not provided;
NM_015272.5(RPGRIP1L):c.3701+1G>T23322RPGRIP1LPathogenicrs863225219RCV000201765; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165364487853644878CANC_000016.9:g.53644878C>AClinGen:CA279549C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=)23322RPGRIP1LConflicting interpretations of pathogenicityrs138724933RCV000246270|RCV000296818|RCV000349270|RCV000399116|RCV000861085|RCV001271321|RCV001675738; NMedGen:CN169374|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165364495653644956GANC_000016.9:g.53644956G>AClinGen:CA8057230C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)23322RPGRIP1LLikely pathogenicrs1567800920RCV000785895; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165365295953652959CT16:g.53652959C>T-
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu)23322RPGRIP1LUncertain significancers886052092RCV000268142|RCV000360555|RCV000299028; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165365297553652975GANC_000016.9:g.53652975G>AClinGen:CA10643789C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met)23322RPGRIP1LConflicting interpretations of pathogenicityrs142317242RCV000232122|RCV000271829|RCV000302183|RCV000359252|RCV001271323; NMONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560,Orphane165365299153652991CT16:g.53652991C>TClinGen:CA8057257C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)23322RPGRIP1LPathogenicrs778533826RCV000201661|RCV001853237; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orph165365302453653024GANC_000016.9:g.53653024G>AClinGen:CA277753C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.3499G>A (p.Asp1167Asn)23322RPGRIP1LUncertain significancers746806282RCV001120448|RCV001120447|RCV001120446|RCV001279141; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165365305453653054CT16:g.53653054C>T-
NM_015272.5(RPGRIP1L):c.3451A>C (p.Ile1151Leu)23322RPGRIP1LConflicting interpretations of pathogenicityrs886038619RCV000249264|RCV001115540|RCV001115541|RCV001115542|RCV001317646; NMedGen:CN169374|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165365310253653102TGNC_000016.9:g.53653102T>GClinGen:CA8057277CN169374 not specified;
NM_015272.5(RPGRIP1L):c.3432+67G>A23322RPGRIP1LBenign-1RCV001541128|RCV001542909|RCV001543030; NMedGen:CN517202|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165365606453656064CT53656064-
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser)23322RPGRIP1LBenignrs111775292RCV000081726|RCV000270666|RCV000329259|RCV000381400|RCV000860417; NMedGen:CN169374|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165365613553656135GC16:g.53656135G>CClinGen:CA148758C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3331G>A (p.Ala1111Thr)23322RPGRIP1LUncertain significancers973841786RCV001116968|RCV001116969|RCV001116970|RCV001856535; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165365623253656232CT16:g.53656232C>T-
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=)23322RPGRIP1LConflicting interpretations of pathogenicityrs568801926RCV000247114|RCV000281675|RCV000349836|RCV000374184|RCV001729495|RCV002058259; NMedGen:CN169374|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MO165365625153656251GANC_000016.9:g.53656251G>AClinGen:CA8057298C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)23322RPGRIP1LPathogenic/Likely pathogenicrs797045104RCV000190621|RCV001209117|RCV001536089; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orph165365626253656263CCGA16:g.53656262_53656263insGAClinGen:CA276019C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.3220+13T>C23322RPGRIP1LConflicting interpretations of pathogenicityrs376659273RCV000438977|RCV001120235|RCV001120236|RCV001120237; NMedGen:CN169374|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165367159453671594AG16:g.53671594A>GClinGen:CA8057344CN169374 not specified;
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe)23322RPGRIP1LUncertain significancers371616177RCV000304399|RCV000334324|RCV000400874; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165367164853671648GANC_000016.9:g.53671648G>AClinGen:CA8057349C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His)23322RPGRIP1LUncertain significancers886052094RCV000401516|RCV000303220|RCV000342957; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165367167453671674CANC_000016.9:g.53671674C>AClinGen:CA10648558C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.3101C>T (p.Thr1034Ile)23322RPGRIP1LUncertain significancers780672507RCV001120544|RCV001120545|RCV001120546|RCV001309837|RCV001833715; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165367172653671726GA16:g.53671726G>A-
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser)23322RPGRIP1LBenignrs2111119RCV000114218|RCV000272526|RCV000306616|RCV000364774|RCV000860458|RCV001271272; NMedGen:CN169374|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165367175453671754CT16:g.53671754C>TClinGen:CA150944,UniProtKB:Q68CZ1#VAR_039397C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2959-15T>C23322RPGRIP1LBenign/Likely benignrs11863101RCV000277562|RCV000330260|RCV000363660|RCV000428764|RCV001512729|RCV001727684; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MedGen:CN169374|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165367233853672338AGNC_000016.9:g.53672338A>GClinGen:CA8057399C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2959-32G>A23322RPGRIP1LBenignrs7203525RCV000114217|RCV000833259|RCV001542910|RCV001542911; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165367235553672355CTNC_000016.9:g.53672355C>TClinGen:CA150943CN169374 not specified;
NM_015272.5(RPGRIP1L):c.2932G>A (p.Val978Met)23322RPGRIP1LUncertain significancers367845452RCV000636960|RCV000764075|RCV001330327|RCV001829788; 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:0012694,MedGen:C1969053,OMIM:611560,Orphane165367497153674971CT16:g.53674971C>TClinGen:CA8057417C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr)23322RPGRIP1LUncertain significancers886052095RCV000262202|RCV000387058|RCV000319864; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165367497753674977ATNC_000016.9:g.53674977A>TClinGen:CA10643792C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)23322RPGRIP1LConflicting interpretations of pathogenicityrs144313291RCV000081725|RCV000280063|RCV000323400|RCV000372251|RCV000547462|RCV001271273; NMedGen:CN169374|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165367497853674978TC16:g.53674978T>CClinGen:CA148755C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=)23322RPGRIP1LConflicting interpretations of pathogenicityrs141608712RCV000283664|RCV000341038|RCV000380415|RCV000996271|RCV001243917|RCV001271326; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedG165367953853679538TC16:g.53679538T>CClinGen:CA8057500C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=)23322RPGRIP1LConflicting interpretations of pathogenicityrs775153934RCV000251212|RCV000291093|RCV000343656|RCV000397052|RCV000869329|RCV001279151|RCV001436236; NMedGen:CN169374|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MO165367956253679562CTNC_000016.9:g.53679562C>TClinGen:CA8057506C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)23322RPGRIP1LConflicting interpretations of pathogenicityrs121918203RCV000033207|RCV000762961|RCV000779628|RCV000790748|RCV001059320|RCV001831501; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497; MONDO:MONDO:0008996,MedGen:C5435651,OMIM:216360, Orphanet:1454; MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGe165367960653679606GANC_000016.9:g.53679606G>AClinGen:CA130771,OMIM:610937.0007
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=)23322RPGRIP1LConflicting interpretations of pathogenicityrs886052096RCV000313265|RCV000371312|RCV000401665|RCV002056498; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165367965553679655GANC_000016.9:g.53679655G>AClinGen:CA10637956C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)23322RPGRIP1LPathogenic/Likely pathogenicrs770291169RCV001199009|RCV001863136; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orph165367966053679660GA16:g.53679660G>A-
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala)23322RPGRIP1LUncertain significancers750235612RCV000356290|RCV000313216|RCV000390525; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165367968353679683AGNC_000016.9:g.53679683A>GClinGen:CA8057529C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln)23322RPGRIP1LUncertain significancers532412372RCV000263635|RCV000316530|RCV000355000|RCV001850696; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165367980653679806CTNC_000016.9:g.53679806C>TClinGen:CA8057547C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter)23322RPGRIP1LPathogenicrs145665129RCV000001134|RCV000201645|RCV000733537|RCV001382825|RCV001831502; NMONDO:MONDO:0030862,MedGen:C5436841,OMIM:619113|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300,Orp165367980753679807GA16:g.53679807G>AClinGen:CA210648,OMIM:610937.0011C1857662 216360 COACH syndrome;
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile)23322RPGRIP1LUncertain significancers771545136RCV000267342|RCV000324463|RCV000376696; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165367989353679893GANC_000016.9:g.53679893G>AClinGen:CA8057565C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2305-1G>A23322RPGRIP1LPathogenicrs863225215RCV000201526; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165367991653679916CTNC_000016.9:g.53679916C>TClinGen:CA279339C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs)23322RPGRIP1LPathogenicrs387906243RCV000001132; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165368291153682911GTGNC_000016.9:g.53682912delClinGen:CA251699,OMIM:610937.0010
NM_015272.5(RPGRIP1L):c.2259G>A (p.Leu753=)23322RPGRIP1LConflicting interpretations of pathogenicityrs768672275RCV001117156|RCV001117155|RCV001117154|RCV001433946; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165368292153682921CT16:g.53682921C>T-
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln)23322RPGRIP1LConflicting interpretations of pathogenicityrs142349647RCV000284497|RCV000327884|RCV000384916|RCV000723738|RCV001085401|RCV001831948; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedG165368294053682940CT16:g.53682940C>TClinGen:CA233780C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln)23322RPGRIP1LBenign/Likely benignrs2302677RCV000081723|RCV000288192|RCV000345607|RCV000394341|RCV000461005|RCV001271276|RCV001573640; NMedGen:CN169374|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165368294953682949CT16:g.53682949C>TClinGen:CA148752,UniProtKB:Q68CZ1#VAR_039396C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln)23322RPGRIP1LUncertain significancers117364872RCV000292443|RCV000349758|RCV000390519|RCV000734409|RCV001279158|RCV001242267; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedG165368297953682979CT16:g.53682979C>TClinGen:CA8057600C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro)23322RPGRIP1LPathogenicrs121918200RCV000001126; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165368651653686516CG16:g.53686516C>GClinGen:CA251694,UniProtKB:Q68CZ1#VAR_039395,OMIM:610937.0004C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter)23322RPGRIP1LPathogenicrs121918204RCV000001131|RCV000762962|RCV000824619|RCV001271277|RCV001781157|RCV001813927; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497; MONDO:MONDO:0008996,MedGen:C5435651,OMIM:216360, Orphanet:1454; MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|Hu165368654953686549GANC_000016.9:g.53686549G>AClinGen:CA251696,OMIM:610937.0009C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro)23322RPGRIP1LPathogenicrs267607020RCV000001135|RCV000201757; NMONDO:MONDO:0030862,MedGen:C5436841,OMIM:619113|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165368662453686624AG16:g.53686624A>GClinGen:CA210651,UniProtKB:Q68CZ1#VAR_063805,OMIM:610937.0012C1857662 216360 COACH syndrome;
NM_015272.5(RPGRIP1L):c.1962A>T (p.Glu654Asp)23322RPGRIP1LUncertain significancers201737322RCV001120741|RCV001120740|RCV001120742|RCV001232987|RCV001828562; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165368663753686637TA16:g.53686637T>A-
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)23322RPGRIP1LConflicting interpretations of pathogenicityrs141979202RCV000300536|RCV000352999|RCV000402360|RCV000467631|RCV001271328; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165368663953686639CT16:g.53686639C>TClinGen:CA8057665C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro)23322RPGRIP1LPathogenicrs121918198RCV000001124|RCV000393725|RCV000689745|RCV001271279; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|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,OM165368675653686756TGNC_000016.9:g.53686756T>GClinGen:CA251689,UniProtKB:Q68CZ1#VAR_039393,OMIM:610937.0002
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys)23322RPGRIP1LUncertain significancers143863631RCV000264423|RCV000303891|RCV000361003|RCV000726350|RCV000765294|RCV001054615|RCV001833391; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MedGen:CN517202|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564; MONDO:MONDO:0008996,MedGen:C5435651165368678953686789CTNC_000016.9:g.53686789C>TClinGen:CA8057696
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)23322RPGRIP1LPathogenic/Likely pathogenicrs745413543RCV001199008|RCV001241219; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orph165368679553686795GA16:g.53686795G>A-
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys)23322RPGRIP1LUncertain significancers148230131RCV000224936|RCV000272739|RCV000321854|RCV000364967|RCV001280344|RCV001854774; NMedGen:CN517202|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedG165368686353686863TC16:g.53686863T>CClinGen:CA8057711C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs)23322RPGRIP1LPathogenicrs863225216RCV000201652; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165368687853686878ATANC_000016.9:g.53686878delClinGen:CA279450C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs)23322RPGRIP1LPathogenicrs778149316RCV000168109|RCV000201673|RCV001280714|RCV001271280; 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:0012694,MedGen:C1969053,OMIM:611560,Orphane165368688953686890CCTNC_000016.9:g.53686892dupClinGen:CA277762C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His)23322RPGRIP1LUncertain significancers147366111RCV000276180|RCV000325211|RCV000382161|RCV000725929|RCV001243651|RCV001271332; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN517202|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165369040153690401CTNC_000016.9:g.53690401C>TClinGen:CA8057737
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile)23322RPGRIP1LConflicting interpretations of pathogenicityrs79524027RCV000765296|RCV000862031|RCV001696865; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497; MONDO:MONDO:0008996,MedGen:C5435651,OMIM:216360, Orphanet:1454; MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:00165369042353690423GT16:g.53690423G>TClinGen:CA8057740CN169374 not specified;
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile)23322RPGRIP1LUncertain significancers886052097RCV000294003|RCV000385963|RCV000333551; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165369049953690499CT16:g.53690499C>TClinGen:CA10643796C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.1521A>G (p.Gln507=)23322RPGRIP1LUncertain significancers1967363312RCV001117241|RCV001118879|RCV001118880; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165369142553691425TC16:g.53691425T>C-
NM_015272.5(RPGRIP1L):c.1401+127A>G23322RPGRIP1LBenignrs7192060RCV000832156|RCV001542912|RCV001542913; NMedGen:CN517202|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165369219953692199TC16:g.53692199T>C-
NM_015272.5(RPGRIP1L):c.1372G>A (p.Glu458Lys)23322RPGRIP1LUncertain significancers776941281RCV001118881|RCV001118882|RCV001118883; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165369235553692355CT16:g.53692355C>T-
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=)23322RPGRIP1LBenign/Likely benignrs61743997RCV000114215|RCV000278832|RCV000337201|RCV000375504|RCV000466567|RCV001273837; NMedGen:CN169374|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:00023165369269353692693CT16:g.53692693C>TClinGen:CA150940C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His)23322RPGRIP1LUncertain significancers76600508RCV000305923|RCV000336182|RCV000397997|RCV001068839|RCV001273838; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165369270353692703CT16:g.53692703C>TClinGen:CA8057847C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.1243+1G>A23322RPGRIP1LPathogenicrs863225218RCV000201573|RCV001853236; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orph165369878153698781CTNC_000016.9:g.53698781C>TClinGen:CA279377C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)23322RPGRIP1LLikely pathogenicrs797045918RCV000195016; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165369886653698867CCT16:g.53698866_53698867insTClinGen:CA277419C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu)23322RPGRIP1LUncertain significancers137982921RCV000401583|RCV000307599|RCV000339807|RCV000697464|RCV000765297|RCV000724780|RCV001271337; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165369886953698869TCNC_000016.9:g.53698869T>CClinGen:CA239324
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs)23322RPGRIP1LPathogenicrs863225217RCV000201745; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165369889353698893CACNC_000016.9:g.53698893delClinGen:CA279528C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.1104-82C>T23322RPGRIP1LBenignrs4133017RCV000986177|RCV001542915|RCV001542914; NMedGen:CN517202|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165369900353699003GA16:g.53699003G>A-
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys)23322RPGRIP1LUncertain significancers144023021RCV000272277|RCV000308698|RCV000362256|RCV001239253|RCV001828320; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165370544053705440TC16:g.53705440T>CClinGen:CA8057930C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His)23322RPGRIP1LUncertain significancers183419371RCV000375576|RCV001117360|RCV001117358|RCV001241000|RCV001117359|RCV001833330; NMedGen:CN517202|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,Me165370684953706849CT16:g.53706849C>TClinGen:CA8057968CN169374 not specified;
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter)23322RPGRIP1LPathogenicrs121918199RCV000001125|RCV001067857|RCV001831500; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orph165372036453720364GA16:g.53720364G>AClinGen:CA251691,OMIM:610937.0003C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)23322RPGRIP1LPathogenic/Likely pathogenicrs993394322RCV001198756|RCV001225531; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000,Orph165372037053720370GA16:g.53720370G>A-
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter)23322RPGRIP1LConflicting interpretations of pathogenicityrs121918197RCV000001123|RCV000367935|RCV001781156|RCV001385849|RCV001831499; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN239416|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM:PS213300, Orphanet:475; MONDO:MONDO:0018921,Me165372042453720424TA16:g.53720424T>AClinGen:CA251686,OMIM:610937.0001C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.639C>A (p.Asn213Lys)23322RPGRIP1LUncertain significancers376808910RCV001118972|RCV001118971|RCV001118970; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165372048253720482GT16:g.53720482G>T-
NM_015272.5(RPGRIP1L):c.622A>G (p.Ile208Val)23322RPGRIP1LUncertain significancers1167981125RCV001118976|RCV001120941|RCV001120940; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165372178553721785TC16:g.53721785T>C-
NM_015272.5(RPGRIP1L):c.530-15T>C23322RPGRIP1LConflicting interpretations of pathogenicityrs368728064RCV001120945|RCV001120946|RCV001120947|RCV001700699|RCV001702084|RCV001409417; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN169374|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MO165372189253721892AG16:g.53721892A>G-
NM_015272.5(RPGRIP1L):c.530-29G>A23322RPGRIP1LBenignrs74393433RCV000114222|RCV001542916|RCV001543009|RCV001650941; NMedGen:CN169374|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN517202165372190653721906CTNC_000016.9:g.53721906C>TClinGen:CA150954CN169374 not specified;
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=)23322RPGRIP1LConflicting interpretations of pathogenicityrs202149647RCV000260324|RCV000320204|RCV000374585|RCV000867235|RCV001273899; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165372606353726063AG16:g.53726063A>GClinGen:CA8058122C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=)23322RPGRIP1LConflicting interpretations of pathogenicityrs182207372RCV000285017|RCV000339982|RCV000380550|RCV000867344|RCV001273900; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165372620453726204CT16:g.53726204C>TClinGen:CA8058137C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val)23322RPGRIP1LUncertain significancers886052098RCV000285787|RCV000396994|RCV000345463; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610165372621453726214CA16:g.53726214C>AClinGen:CA10647719C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.292G>A (p.Gly98Ser)23322RPGRIP1LUncertain significancers202124667RCV000996274|RCV001117472|RCV001117470|RCV001117471|RCV001280362; NMedGen:CN517202|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedG165372621553726215CT16:g.53726215C>T-
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln)23322RPGRIP1LUncertain significancers151212590RCV000310412|RCV000346684|RCV000398312|RCV000464407|RCV000765298|RCV001562186|RCV001828321; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165372625653726256CT16:g.53726256C>TClinGen:CA8058159C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.230+14G>A23322RPGRIP1LConflicting interpretations of pathogenicityrs1970739259RCV001117473|RCV001119072|RCV001119073|RCV002069898; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedGen:C0431399,OMIM165373004953730049CT16:g.53730049C>T-
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His)23322RPGRIP1LUncertain significancers369451829RCV000275958|RCV000311697|RCV000371075|RCV001046148|RCV001273843|RCV001753778; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0018921,MedGen:C0265215,OMIM:PS249000, Orphanet:564; Human Phenotype Ontology:HP:0002335,Human Phenoty165373007653730076CG16:g.53730076C>GClinGen:CA8058185C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=)23322RPGRIP1LConflicting interpretations of pathogenicityrs550006406RCV000867681|RCV001119074|RCV001119075|RCV001119076; 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:0012694,MedGen:C1969053,OMIM:611560,Orphane165373009853730098TC16:g.53730098T>C-
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe)23322RPGRIP1LConflicting interpretations of pathogenicityrs146925098RCV000262935|RCV000298218|RCV000353091|RCV000489212|RCV001081628; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MedGen:CN119610|MedGen:CN517202|Human Phenotype Ontology:HP:0002335,Human Phenotype Ontology:HP:0007125,MONDO:MONDO:0018772,MedG165373012253730122CANC_000016.9:g.53730122C>AClinGen:CA8058197
NM_015272.5(RPGRIP1L):c.166C>T (p.Arg56Cys)23322RPGRIP1LUncertain significancers755258407RCV001121040|RCV001121038|RCV001121039; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165373012753730127GA16:g.53730127G>A-
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter)23322RPGRIP1LPathogenicrs1555616593RCV000505609; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165373017553730175GANC_000016.9:g.53730175G>AClinGen:CA395926047C1969053 611560 Joubert syndrome 7;
NM_015272.5(RPGRIP1L):c.95C>T (p.Thr32Ile)23322RPGRIP1LUncertain significancers1195150584RCV001116125|RCV001121041|RCV001121042; NMONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165373019853730198GA16:g.53730198G>A-
NM_015272.5(RPGRIP1L):c.-7-10T>C23322RPGRIP1LUncertain significancers886052099RCV000264044|RCV000318015|RCV000358806; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165373465253734652AG16:g.53734652A>GClinGen:CA10643797C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.-8G>T23322RPGRIP1LUncertain significancers1020579838RCV001116126|RCV001116128|RCV001116127; NMedGen:CN119610|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497165373771553737715CA16:g.53737715C>A-
NM_015272.5(RPGRIP1L):c.-9C>T23322RPGRIP1LUncertain significancers779839225RCV000378829|RCV000289077|RCV000323828; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165373771653737716GA16:g.53737716G>AClinGen:CA10637960C0431399 Joubert syndrome;
NM_015272.5(RPGRIP1L):c.-16A>G23322RPGRIP1LUncertain significancers909461672RCV001117561|RCV001117562|RCV001117563; NMONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MedGen:CN119610165373772353737723TC16:g.53737723T>C-
NM_015272.5(RPGRIP1L):c.-62C>T23322RPGRIP1LUncertain significancers562413151RCV000325413|RCV000290361|RCV000384683; NMedGen:CN119610|MONDO:MONDO:0012694,MedGen:C1969053,OMIM:611560, Orphanet:220497|MONDO:MONDO:0012695,MedGen:C1969052,OMIM:611561, Orphanet:564165373776953737769GA16:g.53737769G>AClinGen:CA10643798C0431399 Joubert syndrome;
MSeqDR Portal