CleftGeneDB-Search

Gene: INPP5E

Basic information

Tag	Content
Uniprot ID	Q9NRR6; Q15734; Q6PIV5;
Entrez ID	56623
Genbank protein ID	EAW88234.1; AAF81404.1; AAB03215.1; AAH28032.1;
Genbank nucleotide ID	NM_019892.5; NM_001318502.1;
Ensembl protein ID	ENSP00000360777
Ensembl nucleotide ID	ENSG00000148384
Gene name	Phosphatidylinositol polyphosphate 5-phosphatase type IV
Gene symbol	INPP5E
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Phosphatidylinositol (PtdIns) phosphatase that specifically hydrolyzes the 5-phosphate of phosphatidylinositol-3,4,5-trisphosphate (PtdIns(3,4,5)P3), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) (PubMed:10764818) (By similarity). Specific for lipid substrates, inactive towards water soluble inositol phosphates (PubMed:10764818). Plays an essential role in the primary cilium by controlling ciliary growth and phosphoinositide 3-kinase (PI3K) signaling and stability (By similarity).
Sequence	MPSKAENLRP SEPAPQPPEG RTLQGQLPGA PPAQRAGSPP DAPGSESPAL ACSTPATPSG 60 EDPPARAAPI APRPPARPRL ERALSLDDKG WRRRRFRGSQ EDLEARNGTS PSRGSVQSEG 120 PGAPAHSCSP PCLSTSLQEI PKSRGVLSSE RGSPSSGGNP LSGVASSSPN LPHRDAAVAG 180 SSPRLPSLLP PRPPPALSLD IASDSLRTAN KVDSDLADYK LRAQPLLVRA HSSLGPGRPR 240 SPLACDDCSL RSAKSSFSLL APIRSKDVRS RSYLEGSLLA SGALLGADEL ARYFPDRNVA 300 LFVATWNMQG QKELPPSLDE FLLPAEADYA QDLYVIGVQE GCSDRREWET RLQETLGPHY 360 VLLSSAAHGV LYMSLFIRRD LIWFCSEVEC STVTTRIVSQ IKTKGALGIS FTFFGTSFLF 420 ITSHFTSGDG KVAERLLDYT RTVQALVLPR NVPDTNPYRS SAADVTTRFD EVFWFGDFNF 480 RLSGGRTVVD ALLCQGLVVD VPALLQHDQL IREMRKGSIF KGFQEPDIHF LPSYKFDIGK 540 DTYDSTSKQR TPSYTDRVLY RSRHKGDICP VSYSSCPGIK TSDHRPVYGL FRVKVRPGRD 600 NIPLAAGKFD RELYLLGIKR RISKEIQRQQ ALQSQNSSTI CSVS 644

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2XSW

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	INPP5E	506349	E1BAU6		Bos taurus	Prediction	More>>
1:1 ortholog	INPP5E	102172073	A0A452DQV4		Capra hircus	Prediction	More>>
1:1 ortholog	INPP5E	56623	Q9NRR6		Homo sapiens	Prediction	More>>
1:1 ortholog	Inpp5e	64436	Q9JII1	CPO	Mus musculus	Publication	More>>
1:1 ortholog	INPP5E		A0A2I3TQ29		Pan troglodytes	Prediction	More>>
1:1 ortholog	INPP5E		A0A287AEE9		Sus scrofa	Prediction	More>>
1:1 ortholog	Inpp5e	114089	Q9WVR1		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1399373117	p.Pro2Ser	missense variant	-	NC_000009.12:g.136439416G>A	TOPMed,gnomAD
rs1057306367	p.Lys4Met	missense variant	-	NC_000009.12:g.136439409T>A	TOPMed,gnomAD
rs894617448	p.Lys4Gln	missense variant	-	NC_000009.12:g.136439410T>G	TOPMed,gnomAD
rs1057306367	p.Lys4Thr	missense variant	-	NC_000009.12:g.136439409T>G	TOPMed,gnomAD
rs1164272461	p.Ala5Thr	missense variant	-	NC_000009.12:g.136439407C>T	gnomAD
rs1461388293	p.Glu6Asp	missense variant	-	NC_000009.12:g.136439402C>G	TOPMed,gnomAD
rs1483340858	p.Asn7Asp	missense variant	-	NC_000009.12:g.136439401T>C	TOPMed,gnomAD
rs982814371	p.Leu8Val	missense variant	-	NC_000009.12:g.136439398G>C	TOPMed
rs1195255984	p.Pro10Ala	missense variant	-	NC_000009.12:g.136439392G>C	TOPMed,gnomAD
rs1195255984	p.Pro10Ser	missense variant	-	NC_000009.12:g.136439392G>A	TOPMed,gnomAD
rs1225831267	p.Pro10Leu	missense variant	-	NC_000009.12:g.136439391G>A	gnomAD
rs1477926483	p.Ser11Phe	missense variant	-	NC_000009.12:g.136439388G>A	gnomAD
rs1332404967	p.Glu12Asp	missense variant	-	NC_000009.12:g.136439384C>G	TOPMed
rs1029781765	p.Glu12Gly	missense variant	-	NC_000009.12:g.136439385T>C	TOPMed,gnomAD
rs1453183713	p.Pro13Leu	missense variant	-	NC_000009.12:g.136439382G>A	gnomAD
rs1290338516	p.Ala14Ser	missense variant	-	NC_000009.12:g.136439380C>A	gnomAD
rs1290338516	p.Ala14Thr	missense variant	-	NC_000009.12:g.136439380C>T	gnomAD
rs976856736	p.Ala14Val	missense variant	-	NC_000009.12:g.136439379G>A	TOPMed
rs776845366	p.Pro17Leu	missense variant	-	NC_000009.12:g.136439370G>A	ExAC,gnomAD
rs1295075168	p.Pro18Leu	missense variant	-	NC_000009.12:g.136439367G>A	TOPMed,gnomAD
rs886042814	p.Arg21Trp	missense variant	-	NC_000009.12:g.136439359T>A	-
RCV000351098	p.Arg21Trp	missense variant	-	NC_000009.12:g.136439359T>A	ClinVar
rs556184252	p.Thr22Arg	missense variant	-	NC_000009.12:g.136439355G>C	1000Genomes,TOPMed,gnomAD
rs1269899727	p.Gly25Val	missense variant	-	NC_000009.12:g.136439346C>A	gnomAD
rs1333129757	p.Pro28Leu	missense variant	-	NC_000009.12:g.136439337G>A	gnomAD
rs1440765888	p.Ala30Val	missense variant	-	NC_000009.12:g.136439331G>A	TOPMed,gnomAD
rs1392971117	p.Pro31Ala	missense variant	-	NC_000009.12:g.136439329G>C	gnomAD
rs1018506310	p.Pro32Arg	missense variant	-	NC_000009.12:g.136439325G>C	TOPMed,gnomAD
rs1018506310	p.Pro32Leu	missense variant	-	NC_000009.12:g.136439325G>A	TOPMed,gnomAD
rs1418350214	p.Gln34Arg	missense variant	-	NC_000009.12:g.136439319T>C	gnomAD
rs1465742774	p.Gln34Lys	missense variant	-	NC_000009.12:g.136439320G>T	gnomAD
rs1301355865	p.Arg35Cys	missense variant	-	NC_000009.12:g.136439317G>A	gnomAD
rs771207750	p.Ala36Gly	missense variant	-	NC_000009.12:g.136439313G>C	ExAC,gnomAD
rs1200457166	p.Pro39Leu	missense variant	-	NC_000009.12:g.136439304G>A	TOPMed
rs1007653647	p.Pro39Ser	missense variant	-	NC_000009.12:g.136439305G>A	TOPMed,gnomAD
rs1247021274	p.Pro40Ser	missense variant	-	NC_000009.12:g.136439302G>A	gnomAD
rs778156063	p.Asp41Asn	missense variant	-	NC_000009.12:g.136439299C>T	ExAC,gnomAD
rs1200598959	p.Gly44Asp	missense variant	-	NC_000009.12:g.136439289C>T	TOPMed,gnomAD
rs886063713	p.Glu46Lys	missense variant	-	NC_000009.12:g.136439284C>T	-
RCV000322670	p.Glu46Lys	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136439284C>T	ClinVar
rs1438401428	p.Ser47Asn	missense variant	-	NC_000009.12:g.136439280C>T	gnomAD
rs1033200510	p.Ala49Thr	missense variant	-	NC_000009.12:g.136439275C>T	TOPMed
rs998603745	p.Ala49Val	missense variant	-	NC_000009.12:g.136439274G>A	TOPMed,gnomAD
rs1212975635	p.Ala51Pro	missense variant	-	NC_000009.12:g.136439269C>G	gnomAD
rs758796987	p.Ser53Gly	missense variant	-	NC_000009.12:g.136439263T>C	ExAC,TOPMed,gnomAD
rs1234082483	p.Thr54Ile	missense variant	-	NC_000009.12:g.136439259G>A	gnomAD
rs1405371293	p.Thr54Pro	missense variant	-	NC_000009.12:g.136439260T>G	TOPMed
rs1302116437	p.Pro55Ala	missense variant	-	NC_000009.12:g.136439257G>C	TOPMed
rs1343315812	p.Thr57Lys	missense variant	-	NC_000009.12:g.136439250G>T	TOPMed
rs1295677174	p.Ser59Asn	missense variant	-	NC_000009.12:g.136439244C>T	TOPMed
rs1415787879	p.Pro63Leu	missense variant	-	NC_000009.12:g.136439232G>A	TOPMed,gnomAD
rs1415787879	p.Pro63Arg	missense variant	-	NC_000009.12:g.136439232G>C	TOPMed,gnomAD
rs1326309360	p.Pro63Ser	missense variant	-	NC_000009.12:g.136439233G>A	gnomAD
rs1172765521	p.Pro64Gln	missense variant	-	NC_000009.12:g.136439229G>T	TOPMed,gnomAD
rs1172765521	p.Pro64Arg	missense variant	-	NC_000009.12:g.136439229G>C	TOPMed,gnomAD
rs1425486904	p.Pro64Ser	missense variant	-	NC_000009.12:g.136439230G>A	gnomAD
rs993885630	p.Ala65Thr	missense variant	-	NC_000009.12:g.136439227C>T	TOPMed
rs778236228	p.Arg66Gln	missense variant	-	NC_000009.12:g.136439223C>T	ExAC,gnomAD
rs1469583572	p.Pro69Leu	missense variant	-	NC_000009.12:g.136439214G>A	TOPMed,gnomAD
rs1426854196	p.Pro69Ser	missense variant	-	NC_000009.12:g.136439215G>A	gnomAD
rs1469583572	p.Pro69His	missense variant	-	NC_000009.12:g.136439214G>T	TOPMed,gnomAD
rs1202573963	p.Ile70Val	missense variant	-	NC_000009.12:g.136439212T>C	TOPMed,gnomAD
rs1202573963	p.Ile70Leu	missense variant	-	NC_000009.12:g.136439212T>G	TOPMed,gnomAD
rs1346089220	p.Pro72Leu	missense variant	-	NC_000009.12:g.136439205G>A	gnomAD
rs753362488	p.Pro72Ser	missense variant	-	NC_000009.12:g.136439206G>A	ExAC,gnomAD
rs779841260	p.Arg73Trp	missense variant	-	NC_000009.12:g.136439203G>A	ExAC,TOPMed,gnomAD
rs1224781766	p.Arg73Gln	missense variant	-	NC_000009.12:g.136439202C>T	TOPMed,gnomAD
rs755881439	p.Pro74Ser	missense variant	-	NC_000009.12:g.136439200G>A	ExAC,TOPMed,gnomAD
rs755881439	p.Pro74Ala	missense variant	-	NC_000009.12:g.136439200G>C	ExAC,TOPMed,gnomAD
rs750213296	p.Pro74Leu	missense variant	-	NC_000009.12:g.136439199G>A	ExAC,TOPMed,gnomAD
rs1432492746	p.Arg77Lys	missense variant	-	NC_000009.12:g.136439190C>T	gnomAD
rs1480292800	p.Pro78Ser	missense variant	-	NC_000009.12:g.136439188G>A	gnomAD
rs761611233	p.Arg79Gly	missense variant	-	NC_000009.12:g.136439185G>C	ExAC,gnomAD
rs1159056595	p.Arg79Leu	missense variant	-	NC_000009.12:g.136439184C>A	gnomAD
rs1418402713	p.Leu80Pro	missense variant	-	NC_000009.12:g.136439181A>G	gnomAD
rs1288895508	p.Leu80Val	missense variant	-	NC_000009.12:g.136439182G>C	TOPMed
rs751533117	p.Arg82Gly	missense variant	-	NC_000009.12:g.136439176G>C	ExAC,TOPMed,gnomAD
rs867173264	p.Ala83Val	missense variant	-	NC_000009.12:g.136439172G>A	TOPMed
rs867173264	p.Ala83Asp	missense variant	-	NC_000009.12:g.136439172G>T	TOPMed
rs1016285166	p.Ala83Thr	missense variant	-	NC_000009.12:g.136439173C>T	TOPMed,gnomAD
rs759659346	p.Leu84Val	missense variant	-	NC_000009.12:g.136439170G>C	ExAC,gnomAD
rs1484828181	p.Ser85Cys	missense variant	-	NC_000009.12:g.136439166G>C	gnomAD
rs552270496	p.Leu86Val	missense variant	-	NC_000009.12:g.136439164G>C	1000Genomes,ExAC,gnomAD
rs1057482033	p.Asp88Gly	missense variant	-	NC_000009.12:g.136439157T>C	gnomAD
rs909863600	p.Lys89Arg	missense variant	-	NC_000009.12:g.136439154T>C	TOPMed
rs938893997	p.Gly90Ser	missense variant	-	NC_000009.12:g.136439152C>T	TOPMed,gnomAD
rs773522021	p.Trp91Leu	missense variant	-	NC_000009.12:g.136439148C>A	ExAC,gnomAD
rs773522021	p.Trp91Ser	missense variant	-	NC_000009.12:g.136439148C>G	ExAC,gnomAD
rs1042115397	p.Trp91Gly	missense variant	-	NC_000009.12:g.136439149A>C	TOPMed
rs1057520153	p.Arg93Ser	missense variant	-	NC_000009.12:g.136439141C>A	-
RCV000434879	p.Arg93Ser	missense variant	-	NC_000009.12:g.136439141C>A	ClinVar
rs1485569904	p.Arg94Thr	missense variant	-	NC_000009.12:g.136439139C>G	TOPMed
NCI-TCGA novel	p.Arg94Ser	missense variant	-	NC_000009.12:g.136439138C>A	NCI-TCGA
rs1445170514	p.Arg95Cys	missense variant	-	NC_000009.12:g.136439137G>A	TOPMed
rs192637923	p.Arg95Leu	missense variant	-	NC_000009.12:g.136439136C>A	1000Genomes,TOPMed,gnomAD
rs192637923	p.Arg95His	missense variant	-	NC_000009.12:g.136439136C>T	1000Genomes,TOPMed,gnomAD
rs1289208821	p.Ser99Thr	missense variant	-	NC_000009.12:g.136439124C>G	gnomAD
rs1452867080	p.Gln100Ter	stop gained	-	NC_000009.12:g.136439122G>A	gnomAD
rs566641584	p.Glu101Gln	missense variant	-	NC_000009.12:g.136439119C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs187724945	p.Asp102Tyr	missense variant	-	NC_000009.12:g.136439116C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs187724945	p.Asp102Asn	missense variant	-	NC_000009.12:g.136439116C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1405900741	p.Glu104Gln	missense variant	-	NC_000009.12:g.136439110C>G	gnomAD
rs748786705	p.Glu104Val	missense variant	-	NC_000009.12:g.136439109T>A	ExAC,TOPMed,gnomAD
rs779751422	p.Ala105Val	missense variant	-	NC_000009.12:g.136439106G>A	ExAC,TOPMed,gnomAD
rs1164345207	p.Ala105Ser	missense variant	-	NC_000009.12:g.136439107C>A	gnomAD
rs750127451	p.Arg106Gln	missense variant	-	NC_000009.12:g.136439103C>T	ExAC,gnomAD
rs750127451	p.Arg106Leu	missense variant	-	NC_000009.12:g.136439103C>A	ExAC,gnomAD
rs757082393	p.Gly108Arg	missense variant	-	NC_000009.12:g.136439098C>T	ExAC,TOPMed,gnomAD
rs562484803	p.Gly108Glu	missense variant	-	NC_000009.12:g.136439097C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1032671925	p.Thr109Ser	missense variant	-	NC_000009.12:g.136439095T>A	TOPMed,gnomAD
rs762843928	p.Ser110Thr	missense variant	-	NC_000009.12:g.136439091C>G	ExAC,gnomAD
rs1314746769	p.Pro111Leu	missense variant	-	NC_000009.12:g.136439088G>A	TOPMed
rs766472975	p.Pro111Ser	missense variant	-	NC_000009.12:g.136439089G>A	ExAC,gnomAD
rs1295932398	p.Ser112Phe	missense variant	-	NC_000009.12:g.136439085G>A	gnomAD
rs1295932398	p.Ser112Cys	missense variant	-	NC_000009.12:g.136439085G>C	gnomAD
rs1295096267	p.Gly114Asp	missense variant	-	NC_000009.12:g.136439079C>T	gnomAD
rs773436168	p.Ser115Ter	stop gained	-	NC_000009.12:g.136439076G>T	ExAC,gnomAD
rs1460001255	p.Gln117Arg	missense variant	-	NC_000009.12:g.136439070T>C	gnomAD
rs1425875157	p.Gln117His	missense variant	-	NC_000009.12:g.136439069C>G	gnomAD
rs1164283308	p.Gln117Ter	stop gained	-	NC_000009.12:g.136439071G>A	gnomAD
rs1428164960	p.Glu119Lys	missense variant	-	NC_000009.12:g.136439065C>T	TOPMed,gnomAD
rs1193322281	p.Pro121Ser	missense variant	-	NC_000009.12:g.136439059G>A	gnomAD
rs1252990086	p.Gly122Arg	missense variant	-	NC_000009.12:g.136439056C>T	gnomAD
rs1211274207	p.Gly122Glu	missense variant	-	NC_000009.12:g.136439055C>T	gnomAD
rs769176351	p.Ala123Asp	missense variant	-	NC_000009.12:g.136439052G>T	ExAC,TOPMed,gnomAD
rs769176351	p.Ala123Val	missense variant	-	NC_000009.12:g.136439052G>A	ExAC,TOPMed,gnomAD
rs774630007	p.Ala123Pro	missense variant	-	NC_000009.12:g.136439053C>G	ExAC,gnomAD
rs774630007	p.Ala123Ser	missense variant	-	NC_000009.12:g.136439053C>A	ExAC,gnomAD
rs774630007	p.Ala123Thr	missense variant	-	NC_000009.12:g.136439053C>T	ExAC,gnomAD
rs1226181643	p.Pro124Ala	missense variant	-	NC_000009.12:g.136439050G>C	gnomAD
rs1305443439	p.Pro124Leu	missense variant	-	NC_000009.12:g.136439049G>A	gnomAD
rs749845422	p.Ala125Pro	missense variant	-	NC_000009.12:g.136439047C>G	ExAC,TOPMed,gnomAD
rs749845422	p.Ala125Thr	missense variant	-	NC_000009.12:g.136439047C>T	ExAC,TOPMed,gnomAD
rs779663196	p.His126Arg	missense variant	-	NC_000009.12:g.136439043T>C	ExAC,gnomAD
rs769446973	p.Cys128Phe	missense variant	-	NC_000009.12:g.136439037C>A	ExAC,gnomAD
rs745450500	p.Ser129Cys	missense variant	-	NC_000009.12:g.136439034G>C	ExAC,TOPMed,gnomAD
rs745450500	p.Ser129Phe	missense variant	-	NC_000009.12:g.136439034G>A	ExAC,TOPMed,gnomAD
rs756921162	p.Pro131Leu	missense variant	-	NC_000009.12:g.136439028G>A	ExAC,TOPMed,gnomAD
rs1398662716	p.Pro131Ser	missense variant	-	NC_000009.12:g.136439029G>A	gnomAD
rs1461641297	p.Cys132Tyr	missense variant	-	NC_000009.12:g.136439025C>T	gnomAD
rs372930430	p.Ser134Arg	missense variant	-	NC_000009.12:g.136439020T>G	ESP,ExAC,gnomAD
rs1455030345	p.Ser136Phe	missense variant	-	NC_000009.12:g.136439013G>A	gnomAD
rs1406791599	p.Leu137Phe	missense variant	-	NC_000009.12:g.136439009C>A	TOPMed
rs777466600	p.Gln138Lys	missense variant	-	NC_000009.12:g.136439008G>T	ExAC,gnomAD
rs1192243024	p.Gln138His	missense variant	-	NC_000009.12:g.136439006C>A	TOPMed,gnomAD
rs954591293	p.Pro141His	missense variant	-	NC_000009.12:g.136438998G>T	TOPMed,gnomAD
rs1479443394	p.Arg144Gly	missense variant	-	NC_000009.12:g.136438990G>C	TOPMed,gnomAD
rs1479443394	p.Arg144Cys	missense variant	-	NC_000009.12:g.136438990G>A	TOPMed,gnomAD
rs868636012	p.Arg144Leu	missense variant	-	NC_000009.12:g.136438989C>A	TOPMed
rs752649797	p.Gly145Arg	missense variant	-	NC_000009.12:g.136438987C>T	ExAC,gnomAD
RCV000722552	p.Ser148Ter	frameshift	-	NC_000009.12:g.136438974_136438977del	ClinVar
rs1336319671	p.Glu150Asp	missense variant	-	NC_000009.12:g.136438970C>G	gnomAD
rs1301004362	p.Glu150Lys	missense variant	-	NC_000009.12:g.136438972C>T	gnomAD
rs750566132	p.Glu150Gly	missense variant	-	NC_000009.12:g.136438971T>C	ExAC,gnomAD
rs374675444	p.Arg151Ser	missense variant	-	NC_000009.12:g.136438967T>A	ESP
rs1307767005	p.Ser153Cys	missense variant	-	NC_000009.12:g.136438963T>A	gnomAD
rs565209005	p.Pro154Ser	missense variant	-	NC_000009.12:g.136438960G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs78211353	p.Gly157Trp	missense variant	-	NC_000009.12:g.136438951C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1375169715	p.Gly157Val	missense variant	-	NC_000009.12:g.136438950C>A	gnomAD
rs1375169715	p.Gly157Glu	missense variant	-	NC_000009.12:g.136438950C>T	gnomAD
rs1455781081	p.Gly158Asp	missense variant	-	NC_000009.12:g.136438947C>T	gnomAD
RCV000522108	p.Gly158Ter	frameshift	-	NC_000009.12:g.136438952del	ClinVar
rs1172203645	p.Gly158Cys	missense variant	-	NC_000009.12:g.136438948C>A	gnomAD
rs1364931238	p.Asn159Lys	missense variant	-	NC_000009.12:g.136438943G>T	gnomAD
rs774738007	p.Pro160Arg	missense variant	-	NC_000009.12:g.136438941G>C	ExAC,TOPMed,gnomAD
rs774738007	p.Pro160Leu	missense variant	-	NC_000009.12:g.136438941G>A	ExAC,TOPMed,gnomAD
rs1413495284	p.Gly163Val	missense variant	-	NC_000009.12:g.136438932C>A	gnomAD
rs1257673510	p.Val164Leu	missense variant	-	NC_000009.12:g.136438930C>G	gnomAD
RCV000298972	p.Val164Ter	frameshift	-	NC_000009.12:g.136438933dup	ClinVar
rs1257673510	p.Val164Leu	missense variant	-	NC_000009.12:g.136438930C>A	gnomAD
rs1277886267	p.Ala165Gly	missense variant	-	NC_000009.12:g.136438926G>C	TOPMed,gnomAD
rs1277886267	p.Ala165Val	missense variant	-	NC_000009.12:g.136438926G>A	TOPMed,gnomAD
rs1012957991	p.Ala165Thr	missense variant	-	NC_000009.12:g.136438927C>T	gnomAD
rs1218581500	p.Ser167Gly	missense variant	-	NC_000009.12:g.136438921T>C	gnomAD
rs764388194	p.Ser167Arg	missense variant	-	NC_000009.12:g.136438919G>C	ExAC,gnomAD
rs1232108345	p.Pro169Leu	missense variant	-	NC_000009.12:g.136438914G>A	TOPMed
rs573292248	p.Pro169Ser	missense variant	-	NC_000009.12:g.136438915G>A	1000Genomes,ExAC,gnomAD
rs778210239	p.Asn170Lys	missense variant	-	NC_000009.12:g.136438910G>C	ExAC,TOPMed,gnomAD
rs770493776	p.Pro172Leu	missense variant	-	NC_000009.12:g.136438905G>A	ExAC,TOPMed,gnomAD
rs770493776	p.Pro172Arg	missense variant	-	NC_000009.12:g.136438905G>C	ExAC,TOPMed,gnomAD
rs776051206	p.His173Tyr	missense variant	-	NC_000009.12:g.136438903G>A	ExAC,gnomAD
rs929956067	p.Arg174Gly	missense variant	-	NC_000009.12:g.136438900T>C	TOPMed
rs1384336987	p.Ala177Val	missense variant	-	NC_000009.12:g.136438890G>A	gnomAD
rs376003129	p.Val178Met	missense variant	-	NC_000009.12:g.136438888C>T	ESP,ExAC,TOPMed,gnomAD
rs376003129	p.Val178Leu	missense variant	-	NC_000009.12:g.136438888C>A	ESP,ExAC,TOPMed,gnomAD
rs1452284039	p.Ala179Thr	missense variant	-	NC_000009.12:g.136438885C>T	gnomAD
rs1354350052	p.Gly180Val	missense variant	-	NC_000009.12:g.136438881C>A	TOPMed
rs758203217	p.Ser181Gly	missense variant	-	NC_000009.12:g.136438879T>C	ExAC,gnomAD
rs754964359	p.Pro183Thr	missense variant	-	NC_000009.12:g.136438873G>T	ExAC,TOPMed,gnomAD
RCV000381186	p.Pro183Ser	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136438873G>A	ClinVar
rs754964359	p.Pro183Ser	missense variant	-	NC_000009.12:g.136438873G>A	ExAC,TOPMed,gnomAD
rs372412898	p.Leu185Gln	missense variant	-	NC_000009.12:g.136438866A>T	ESP,ExAC,TOPMed,gnomAD
RCV000636940	p.Leu185Gln	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136438866A>T	ClinVar
rs1260795928	p.Pro186Leu	missense variant	-	NC_000009.12:g.136438863G>A	gnomAD
NCI-TCGA novel	p.Pro186Ser	missense variant	-	NC_000009.12:g.136438864G>A	NCI-TCGA
rs1203260394	p.Ser187Gly	missense variant	-	NC_000009.12:g.136438861T>C	gnomAD
rs575967532	p.Ser187Asn	missense variant	-	NC_000009.12:g.136438860C>T	1000Genomes,ExAC,gnomAD
rs575967532	p.Ser187Ile	missense variant	-	NC_000009.12:g.136438860C>A	1000Genomes,ExAC,gnomAD
rs1275095998	p.Pro190Thr	missense variant	-	NC_000009.12:g.136438852G>T	gnomAD
rs1234036011	p.Pro190Arg	missense variant	-	NC_000009.12:g.136438851G>C	gnomAD
rs1291740539	p.Pro191Ser	missense variant	-	NC_000009.12:g.136438849G>A	gnomAD
rs61734181	p.Pro191Arg	missense variant	-	NC_000009.12:g.136438848G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000117262	p.Pro191Arg	missense variant	-	NC_000009.12:g.136438848G>C	ClinVar
NCI-TCGA novel	p.Pro191ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000009.12:g.136438849_136438850insACATCGCCTCCGACTCCCT	NCI-TCGA
rs1327339908	p.Arg192His	missense variant	-	NC_000009.12:g.136438845C>T	gnomAD
rs1339773597	p.Pro193Leu	missense variant	-	NC_000009.12:g.136438842G>A	TOPMed
rs763409993	p.Pro193Ser	missense variant	-	NC_000009.12:g.136438843G>A	ExAC,TOPMed,gnomAD
rs200223403	p.Pro194Ser	missense variant	-	NC_000009.12:g.136438840G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200223403	p.Pro194Ala	missense variant	-	NC_000009.12:g.136438840G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs765819603	p.Pro195Ser	missense variant	-	NC_000009.12:g.136438837G>A	ExAC,gnomAD
rs147268679	p.Pro195Arg	missense variant	-	NC_000009.12:g.136438836G>C	ESP,ExAC
rs371950473	p.Ala196Val	missense variant	-	NC_000009.12:g.136438833G>A	ESP,ExAC,TOPMed,gnomAD
rs376043087	p.Ala196Ser	missense variant	-	NC_000009.12:g.136438834C>A	ESP,ExAC,TOPMed,gnomAD
rs141286608	p.Ser198Thr	missense variant	-	NC_000009.12:g.136438827C>G	ESP,ExAC,TOPMed,gnomAD
rs141286608	p.Ser198Asn	missense variant	-	NC_000009.12:g.136438827C>T	ESP,ExAC,TOPMed,gnomAD
rs36064831	p.Ile201Met	missense variant	-	NC_000009.12:g.136438817G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs36064831	p.Ile201Met	missense variant	-	NC_000009.12:g.136438817G>C	UniProt,dbSNP
VAR_047078	p.Ile201Met	missense variant	-	NC_000009.12:g.136438817G>C	UniProt
RCV000205119	p.Ile201Met	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136438817G>C	ClinVar
rs1253615815	p.Ser203Pro	missense variant	-	NC_000009.12:g.136438813A>G	gnomAD
rs1214397440	p.Ser203Cys	missense variant	-	NC_000009.12:g.136438812G>C	gnomAD
COSM21653	p.Ser203Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136438812G>A	NCI-TCGA Cosmic
rs768542252	p.Asp204Tyr	missense variant	-	NC_000009.12:g.136438810C>A	ExAC,gnomAD
rs768542252	p.Asp204Asn	missense variant	-	NC_000009.12:g.136438810C>T	ExAC,gnomAD
rs1287836359	p.Asp204Gly	missense variant	-	NC_000009.12:g.136438809T>C	gnomAD
rs1216505048	p.Ser205Pro	missense variant	-	NC_000009.12:g.136438807A>G	gnomAD
rs143107549	p.Thr208Ile	missense variant	-	NC_000009.12:g.136438797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1373822065	p.Thr208Ala	missense variant	-	NC_000009.12:g.136438798T>C	gnomAD
RCV000537965	p.Thr208Ile	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136438797G>A	ClinVar
RCV000839869	p.Thr208Ile	missense variant	-	NC_000009.12:g.136438797G>A	ClinVar
rs143107549	p.Thr208Lys	missense variant	-	NC_000009.12:g.136438797G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753077558	p.Asn210Asp	missense variant	-	NC_000009.12:g.136438792T>C	ExAC,gnomAD
rs533861933	p.Val212Gly	missense variant	-	NC_000009.12:g.136438785A>C	1000Genomes,ExAC,gnomAD
rs1165929856	p.Asp213Tyr	missense variant	-	NC_000009.12:g.136438783C>A	gnomAD
rs1390460638	p.Asp213Ala	missense variant	-	NC_000009.12:g.136438782T>G	gnomAD
rs1046935939	p.Ser214Leu	missense variant	-	NC_000009.12:g.136438779G>A	TOPMed,gnomAD
rs994157744	p.Leu216Val	missense variant	-	NC_000009.12:g.136438774G>C	TOPMed
rs753519048	p.Asp218Ala	missense variant	-	NC_000009.12:g.136438767T>G	ExAC,gnomAD
rs374690864	p.Tyr219Asp	missense variant	-	NC_000009.12:g.136438765A>C	ESP,ExAC,TOPMed,gnomAD
rs1269505347	p.Tyr219Cys	missense variant	-	NC_000009.12:g.136438764T>C	TOPMed
rs942793713	p.Leu221Pro	missense variant	-	NC_000009.12:g.136438758A>G	TOPMed
rs1041567284	p.Leu221Phe	missense variant	-	NC_000009.12:g.136438759G>A	TOPMed,gnomAD
rs991472201	p.Pro225Arg	missense variant	-	NC_000009.12:g.136438746G>C	TOPMed,gnomAD
rs761485683	p.Leu226Phe	missense variant	-	NC_000009.12:g.136438744G>A	ExAC,TOPMed,gnomAD
rs547974643	p.Leu227Val	missense variant	-	NC_000009.12:g.136438741G>C	1000Genomes,gnomAD
NCI-TCGA novel	p.Leu227Arg	missense variant	-	NC_000009.12:g.136438740A>C	NCI-TCGA
rs1281522733	p.Val228Met	missense variant	-	NC_000009.12:g.136438738C>T	gnomAD
rs774085718	p.Arg229Trp	missense variant	-	NC_000009.12:g.136438735G>A	ExAC,TOPMed,gnomAD
rs768453555	p.Arg229Gln	missense variant	-	NC_000009.12:g.136438734C>T	ExAC,gnomAD
rs1442380202	p.Ala230Thr	missense variant	-	NC_000009.12:g.136438732C>T	gnomAD
rs779854628	p.His231Arg	missense variant	-	NC_000009.12:g.136438728T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser232Arg	missense variant	-	NC_000009.12:g.136438724G>T	NCI-TCGA
rs769831459	p.Ser232Cys	missense variant	-	NC_000009.12:g.136438726T>A	ExAC,gnomAD
rs1172820622	p.Ser233Gly	missense variant	-	NC_000009.12:g.136438723T>C	gnomAD
rs568767788	p.Ser233Thr	missense variant	-	NC_000009.12:g.136438722C>G	1000Genomes,ExAC,gnomAD
rs758650948	p.Gly235Asp	missense variant	-	NC_000009.12:g.136438716C>T	ExAC,gnomAD
rs1470515038	p.Pro236Ala	missense variant	-	NC_000009.12:g.136438714G>C	gnomAD
rs760298042	p.Arg238Gln	missense variant	-	NC_000009.12:g.136438707C>T	ExAC,TOPMed,gnomAD
rs760298042	p.Arg238Leu	missense variant	-	NC_000009.12:g.136438707C>A	ExAC,TOPMed,gnomAD
rs1281458046	p.Arg240Gln	missense variant	-	NC_000009.12:g.136438701C>T	gnomAD
rs1053959890	p.Pro242Arg	missense variant	-	NC_000009.12:g.136438695G>C	TOPMed
rs1387485414	p.Cys245Ser	missense variant	-	NC_000009.12:g.136438686C>G	TOPMed
rs1349268574	p.Asp246Glu	missense variant	-	NC_000009.12:g.136438682G>T	gnomAD
rs749897420	p.Asp247Asn	missense variant	-	NC_000009.12:g.136438681C>T	ExAC,gnomAD
rs749897420	p.Asp247Tyr	missense variant	-	NC_000009.12:g.136438681C>A	ExAC,gnomAD
rs767038608	p.Cys248Phe	missense variant	-	NC_000009.12:g.136438677C>A	ExAC,gnomAD
rs550485638	p.Ser249Tyr	missense variant	-	NC_000009.12:g.136438674G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs550485638	p.Ser249Cys	missense variant	-	NC_000009.12:g.136438674G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs550485638	p.Ser249Phe	missense variant	-	NC_000009.12:g.136438674G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201792737	p.Arg251Pro	missense variant	-	NC_000009.12:g.136438668C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201792737	p.Arg251Leu	missense variant	-	NC_000009.12:g.136438668C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201792737	p.Arg251His	missense variant	-	NC_000009.12:g.136438668C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775406790	p.Ser252Pro	missense variant	-	NC_000009.12:g.136438666A>G	ExAC,TOPMed,gnomAD
rs368053206	p.Ser252Leu	missense variant	-	NC_000009.12:g.136438665G>A	ExAC,TOPMed,gnomAD
rs368053206	p.Ser252Trp	missense variant	-	NC_000009.12:g.136438665G>C	ExAC,TOPMed,gnomAD
rs745845949	p.Ala253Ser	missense variant	-	NC_000009.12:g.136438663C>A	ExAC,gnomAD
rs745845949	p.Ala253Thr	missense variant	-	NC_000009.12:g.136438663C>T	ExAC,gnomAD
rs368817877	p.Ser255Phe	missense variant	-	NC_000009.12:g.136438656G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1258558365	p.Ser255Thr	missense variant	-	NC_000009.12:g.136438657A>T	TOPMed,gnomAD
rs368817877	p.Ser255Tyr	missense variant	-	NC_000009.12:g.136438656G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1446967849	p.Phe257Cys	missense variant	-	NC_000009.12:g.136438650A>C	gnomAD
rs772286826	p.Phe257Leu	missense variant	-	NC_000009.12:g.136438651A>G	ExAC,TOPMed,gnomAD
rs1234653576	p.Ser258Asn	missense variant	-	NC_000009.12:g.136438647C>T	gnomAD
rs1335068390	p.Leu259Ile	missense variant	-	NC_000009.12:g.136438645G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu260Met	missense variant	-	NC_000009.12:g.136438642G>T	NCI-TCGA
rs779271682	p.Ala261Thr	missense variant	-	NC_000009.12:g.136438639C>T	ExAC,gnomAD
rs528585360	p.Ala261Val	missense variant	-	NC_000009.12:g.136438638G>A	1000Genomes,ExAC,gnomAD
rs1429900148	p.Pro262Arg	missense variant	-	NC_000009.12:g.136438635G>C	gnomAD
rs202197173	p.Arg264His	missense variant	-	NC_000009.12:g.136438629C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1365683490	p.Arg264Cys	missense variant	-	NC_000009.12:g.136438630G>A	TOPMed
rs1365683490	p.Arg264Ser	missense variant	-	NC_000009.12:g.136438630G>T	TOPMed
RCV000251292	p.Arg264His	missense variant	-	NC_000009.12:g.136438629C>T	ClinVar
rs1158016779	p.Ser265Arg	missense variant	-	NC_000009.12:g.136438627T>G	TOPMed
rs750943687	p.Asp267Asn	missense variant	-	NC_000009.12:g.136438621C>T	ExAC,TOPMed,gnomAD
rs1471019025	p.Val268Leu	missense variant	-	NC_000009.12:g.136438618C>G	TOPMed
rs766948458	p.Arg269His	missense variant	-	NC_000009.12:g.136438614C>T	ExAC
rs1422051665	p.Ser270Arg	missense variant	-	NC_000009.12:g.136438610G>T	gnomAD
rs1422311278	p.Ser270Ile	missense variant	-	NC_000009.12:g.136438611C>A	gnomAD
rs1337285403	p.Arg271Thr	missense variant	-	NC_000009.12:g.136438608C>G	TOPMed
rs1399303625	p.Tyr273Ser	missense variant	-	NC_000009.12:g.136434858T>G	TOPMed
rs780226706	p.Gly276Ser	missense variant	-	NC_000009.12:g.136434850C>T	ExAC,gnomAD
rs1305185395	p.Ser277Arg	missense variant	-	NC_000009.12:g.136434847T>G	TOPMed
rs746298415	p.Ala280Thr	missense variant	-	NC_000009.12:g.136434838C>T	ExAC,gnomAD
rs1175962503	p.Ala280Asp	missense variant	-	NC_000009.12:g.136434837G>T	TOPMed,gnomAD
rs138068434	p.Gly282Arg	missense variant	-	NC_000009.12:g.136434832C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1310994013	p.Ala283Thr	missense variant	-	NC_000009.12:g.136434829C>T	TOPMed
rs751040358	p.Ala283Val	missense variant	-	NC_000009.12:g.136434828G>A	ExAC,gnomAD
rs757936530	p.Gly286Arg	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136434820C>T	UniProt,dbSNP
VAR_077247	p.Gly286Arg	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136434820C>T	UniProt
rs757936530	p.Gly286Arg	missense variant	-	NC_000009.12:g.136434820C>T	ExAC,gnomAD
rs752406011	p.Ala287Val	missense variant	-	NC_000009.12:g.136434816G>A	ExAC,gnomAD
RCV000413564	p.Ala291Val	missense variant	-	NC_000009.12:g.136434804G>A	ClinVar
rs759397125	p.Ala291Val	missense variant	-	NC_000009.12:g.136434804G>A	ExAC,TOPMed,gnomAD
COSM1461078	p.Ala291Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136434805C>T	NCI-TCGA Cosmic
rs753742613	p.Arg292Cys	missense variant	-	NC_000009.12:g.136434802G>A	ExAC,TOPMed,gnomAD
rs199873582	p.Arg292His	missense variant	-	NC_000009.12:g.136434801C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753742613	p.Arg292Gly	missense variant	-	NC_000009.12:g.136434802G>C	ExAC,TOPMed,gnomAD
rs199873582	p.Arg292His	missense variant	-	NC_000009.12:g.136434801C>T	NCI-TCGA,NCI-TCGA Cosmic
rs753742613	p.Arg292Cys	missense variant	-	NC_000009.12:g.136434802G>A	NCI-TCGA
RCV000194920	p.Arg292His	missense variant	-	NC_000009.12:g.136434801C>T	ClinVar
rs145264797	p.Tyr293Phe	missense variant	-	NC_000009.12:g.136434798T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1241112128	p.Tyr293Asn	missense variant	-	NC_000009.12:g.136434799A>T	gnomAD
RCV000722301	p.Tyr293Asp	missense variant	-	NC_000009.12:g.136434799A>C	ClinVar
rs1047244794	p.Arg297Gln	missense variant	-	NC_000009.12:g.136434786C>T	TOPMed,gnomAD
rs547445320	p.Arg297Trp	missense variant	-	NC_000009.12:g.136434787G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs763020300	p.Val299Met	missense variant	-	NC_000009.12:g.136434781C>T	ExAC,TOPMed,gnomAD
rs1401953159	p.Ala300Val	missense variant	-	NC_000009.12:g.136434777G>A	gnomAD
COSM5549444	p.Ala300Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136434778C>T	NCI-TCGA Cosmic
rs140222295	p.Phe302Leu	missense variant	-	NC_000009.12:g.136434770G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746212325	p.Val303Met	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136434769C>T	UniProt,dbSNP
VAR_077248	p.Val303Met	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136434769C>T	UniProt
rs746212325	p.Val303Leu	missense variant	-	NC_000009.12:g.136434769C>G	ExAC,TOPMed,gnomAD
rs746212325	p.Val303Leu	missense variant	-	NC_000009.12:g.136434769C>A	ExAC,TOPMed,gnomAD
rs746212325	p.Val303Met	missense variant	-	NC_000009.12:g.136434769C>T	ExAC,TOPMed,gnomAD
RCV000201762	p.Val303Met	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136434769C>T	ClinVar
rs1157831514	p.Ala304Thr	missense variant	-	NC_000009.12:g.136434766C>T	gnomAD
rs568204894	p.Gln309Ter	stop gained	-	NC_000009.12:g.136434751G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs568204894	p.Gln309Glu	missense variant	-	NC_000009.12:g.136434751G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1169433090	p.Leu314Phe	missense variant	-	NC_000009.12:g.136434131G>A	TOPMed,gnomAD
rs754637179	p.Pro315Leu	missense variant	-	NC_000009.12:g.136434127G>A	ExAC,TOPMed,gnomAD
RCV000201594	p.Pro315Leu	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136434127G>A	ClinVar
rs1186646391	p.Ser317Gly	missense variant	-	NC_000009.12:g.136434122T>C	gnomAD
rs1254993477	p.Glu320Lys	missense variant	-	NC_000009.12:g.136434113C>T	TOPMed,gnomAD
rs779929155	p.Phe321Leu	missense variant	-	NC_000009.12:g.136434108G>T	ExAC,gnomAD
rs1451261136	p.Leu322Met	missense variant	-	NC_000009.12:g.136434107G>T	gnomAD
rs1288078141	p.Leu322Pro	missense variant	-	NC_000009.12:g.136434106A>G	gnomAD
rs755969392	p.Pro324Ala	missense variant	-	NC_000009.12:g.136434101G>C	ExAC,gnomAD
rs1226884263	p.Ala325Gly	missense variant	-	NC_000009.12:g.136434097G>C	TOPMed,gnomAD
rs200794870	p.Glu326Lys	missense variant	-	NC_000009.12:g.136434095C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201857820	p.Asp328Asn	missense variant	-	NC_000009.12:g.136434089C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs372066816	p.Tyr329Phe	missense variant	-	NC_000009.12:g.136434085T>A	ESP,ExAC,TOPMed,gnomAD
rs372066816	p.Tyr329Cys	missense variant	-	NC_000009.12:g.136434085T>C	ESP,ExAC,TOPMed,gnomAD
rs1369760762	p.Ala330Val	missense variant	-	NC_000009.12:g.136434082G>A	gnomAD
rs761085367	p.Ala330Thr	missense variant	-	NC_000009.12:g.136434083C>T	ExAC,gnomAD
rs555308253	p.Gln331His	missense variant	-	NC_000009.12:g.136434078C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1166437684	p.Gln331Glu	missense variant	-	NC_000009.12:g.136434080G>C	gnomAD
rs151090087	p.Leu333Val	missense variant	-	NC_000009.12:g.136434074G>C	ESP,ExAC,gnomAD
rs1245035123	p.Val335Leu	missense variant	-	NC_000009.12:g.136434068C>G	gnomAD
rs768294500	p.Ile336Leu	missense variant	-	NC_000009.12:g.136434065T>G	ExAC,gnomAD
rs368235861	p.Gly337Arg	missense variant	-	NC_000009.12:g.136434062C>T	ESP,ExAC,TOPMed,gnomAD
rs368235861	p.Gly337Arg	missense variant	-	NC_000009.12:g.136434062C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1427394436	p.Gln339Pro	missense variant	-	NC_000009.12:g.136434055T>G	TOPMed
rs142906644	p.Gln339Glu	missense variant	-	NC_000009.12:g.136434056G>C	ESP,ExAC,gnomAD
rs142906644	p.Gln339Ter	stop gained	-	NC_000009.12:g.136434056G>A	ESP,ExAC,gnomAD
rs780882740	p.Gly341Ser	missense variant	-	NC_000009.12:g.136434050C>T	ExAC,gnomAD
RCV000201735	p.Gly341Ser	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136434050C>T	ClinVar
rs188488264	p.Cys342Arg	missense variant	-	NC_000009.12:g.136434047A>G	1000Genomes,gnomAD
rs1442522957	p.Ser343Tyr	missense variant	-	NC_000009.12:g.136434043G>T	gnomAD
NCI-TCGA novel	p.Ser343Phe	missense variant	-	NC_000009.12:g.136434043G>A	NCI-TCGA
rs1298311798	p.Arg345Ser	missense variant	-	NC_000009.12:g.136433279C>G	gnomAD
VAR_077249	p.Arg345Ser	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
rs767855660	p.Arg346Trp	missense variant	-	NC_000009.12:g.136433278G>A	ExAC,TOPMed,gnomAD
rs762071368	p.Arg346Gln	missense variant	-	NC_000009.12:g.136433277C>T	ExAC,gnomAD
rs1463230156	p.TrpGlu348Ter	stop gained	-	NC_000009.12:g.136433270_136433271del	gnomAD
rs1318575224	p.Trp348Arg	missense variant	-	NC_000009.12:g.136433272A>G	gnomAD
rs1164521289	p.Thr350Ile	missense variant	-	NC_000009.12:g.136433265G>A	gnomAD
rs764667114	p.Arg351Cys	missense variant	-	NC_000009.12:g.136433263G>A	ExAC,gnomAD
rs775094328	p.Arg351Leu	missense variant	-	NC_000009.12:g.136433262C>A	ExAC,TOPMed,gnomAD
rs775094328	p.Arg351Pro	missense variant	-	NC_000009.12:g.136433262C>G	ExAC,TOPMed,gnomAD
rs775094328	p.Arg351His	missense variant	-	NC_000009.12:g.136433262C>T	ExAC,TOPMed,gnomAD
rs1449354262	p.Leu352Pro	missense variant	-	NC_000009.12:g.136433259A>G	gnomAD
rs863225198	p.Thr355Met	missense variant	-	NC_000009.12:g.136433250G>A	TOPMed,gnomAD
RCV000201710	p.Thr355Met	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136433250G>A	ClinVar
rs1488606970	p.Gly357Val	missense variant	-	NC_000009.12:g.136433244C>A	gnomAD
rs1218911255	p.Pro358Ala	missense variant	-	NC_000009.12:g.136433242G>C	gnomAD
rs1275048619	p.His359Gln	missense variant	-	NC_000009.12:g.136433237G>C	gnomAD
rs536052523	p.Ser364Phe	missense variant	-	NC_000009.12:g.136433223G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs536052523	p.Ser364Cys	missense variant	-	NC_000009.12:g.136433223G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1388522044	p.Ser365Leu	missense variant	-	NC_000009.12:g.136433220G>A	gnomAD
rs930546779	p.Ala366Val	missense variant	-	NC_000009.12:g.136433217G>A	gnomAD
rs1388790286	p.Gly369Val	missense variant	-	NC_000009.12:g.136433208C>A	TOPMed,gnomAD
rs750574856	p.Gly369Ser	missense variant	-	NC_000009.12:g.136433209C>T	ExAC,gnomAD
rs1388790286	p.Gly369Asp	missense variant	-	NC_000009.12:g.136433208C>T	TOPMed,gnomAD
rs147531141	p.Val370Met	missense variant	-	NC_000009.12:g.136433206C>T	ESP,ExAC,TOPMed,gnomAD
rs751934943	p.Val370Glu	missense variant	-	NC_000009.12:g.136433205A>T	ExAC,gnomAD
rs1189137999	p.Tyr372His	missense variant	-	NC_000009.12:g.136433200A>G	gnomAD
rs764577370	p.Ser374Leu	missense variant	-	NC_000009.12:g.136433193G>A	ExAC,TOPMed,gnomAD
rs1204104676	p.Leu375Pro	missense variant	-	NC_000009.12:g.136433190A>G	gnomAD
NCI-TCGA novel	p.Phe376Leu	missense variant	-	NC_000009.12:g.136433186G>C	NCI-TCGA
rs973796605	p.Ile377Val	missense variant	-	NC_000009.12:g.136433185T>C	TOPMed
rs763499800	p.Ile377Ser	missense variant	-	NC_000009.12:g.136433184A>C	ExAC,gnomAD
rs758951947	p.Arg378His	missense variant	-	NC_000009.12:g.136433181C>T	ExAC,TOPMed,gnomAD
rs121918130	p.Arg378Cys	missense variant	-	NC_000009.12:g.136433182G>A	ESP,ExAC,TOPMed,gnomAD
rs121918130	p.Arg378Cys	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136433182G>A	UniProt,dbSNP
VAR_063012	p.Arg378Cys	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136433182G>A	UniProt
rs758951947	p.Arg378Leu	missense variant	-	NC_000009.12:g.136433181C>A	ExAC,TOPMed,gnomAD
rs121918130	p.Arg378Ser	missense variant	-	NC_000009.12:g.136433182G>T	ESP,ExAC,TOPMed,gnomAD
RCV000735369	p.Arg378Cys	missense variant	Talipes equinovarus (CCF)	NC_000009.12:g.136433182G>A	ClinVar
RCV000022405	p.Arg378Cys	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136433182G>A	ClinVar
rs200518324	p.Arg379Lys	missense variant	-	NC_000009.12:g.136433178C>T	ESP,ExAC,TOPMed,gnomAD
rs1443547805	p.Arg379Ser	missense variant	-	NC_000009.12:g.136433177C>A	TOPMed
RCV000303395	p.Arg379Lys	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136433178C>T	ClinVar
rs770456201	p.Asp380Asn	missense variant	-	NC_000009.12:g.136433176C>T	ExAC
rs760349095	p.Ile382Met	missense variant	-	NC_000009.12:g.136433168G>C	ExAC,TOPMed,gnomAD
rs863225200	p.Cys385Tyr	missense variant	-	NC_000009.12:g.136433160C>T	gnomAD
rs772941011	p.Cys385Trp	missense variant	-	NC_000009.12:g.136433159G>C	ExAC,gnomAD
RCV000201546	p.Cys385Tyr	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136433160C>T	ClinVar
rs863225200	p.Cys385Ser	missense variant	-	NC_000009.12:g.136433160C>G	gnomAD
rs771866083	p.Ser386Ala	missense variant	-	NC_000009.12:g.136433158A>C	ExAC,gnomAD
rs748011090	p.Ser386Ter	stop gained	-	NC_000009.12:g.136433157G>C	ExAC,gnomAD
rs863225201	p.Val388Leu	missense variant	-	NC_000009.12:g.136433073C>A	TOPMed,gnomAD
RCV000201647	p.Val388Leu	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136433073C>A	ClinVar
COSM3413463	p.Glu389Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136433068C>G	NCI-TCGA Cosmic
rs201481645	p.Ser391Phe	missense variant	-	NC_000009.12:g.136433063G>A	1000Genomes,ExAC,gnomAD
COSM6183172	p.Ser391Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136433063G>C	NCI-TCGA Cosmic
rs771142015	p.Thr392Arg	missense variant	-	NC_000009.12:g.136433060G>C	ExAC,TOPMed,gnomAD
rs771142015	p.Thr392Met	missense variant	-	NC_000009.12:g.136433060G>A	ExAC,TOPMed,gnomAD
rs930286679	p.Val393Ala	missense variant	-	NC_000009.12:g.136433057A>G	gnomAD
rs778132708	p.Val393Leu	missense variant	-	NC_000009.12:g.136433058C>A	ExAC
rs528585797	p.Arg396Cys	missense variant	-	NC_000009.12:g.136433049G>A	1000Genomes,ExAC,gnomAD
rs779363781	p.Arg396His	missense variant	-	NC_000009.12:g.136433048C>T	ExAC,TOPMed,gnomAD
rs779363781	p.Arg396His	missense variant	-	NC_000009.12:g.136433048C>T	NCI-TCGA,NCI-TCGA Cosmic
rs140705002	p.Ile397Phe	missense variant	-	NC_000009.12:g.136433046T>A	ExAC,TOPMed,gnomAD
rs140705002	p.Ile397Val	missense variant	-	NC_000009.12:g.136433046T>C	ExAC,TOPMed,gnomAD
rs200033750	p.Val398Leu	missense variant	-	NC_000009.12:g.136433043C>G	ExAC,TOPMed,gnomAD
rs200033750	p.Val398Met	missense variant	-	NC_000009.12:g.136433043C>T	ExAC,TOPMed,gnomAD
rs1327278801	p.Ser399Ala	missense variant	-	NC_000009.12:g.136433040A>C	gnomAD
RCV000722645	p.Ser399Cys	missense variant	-	NC_000009.12:g.136433039G>C	ClinVar
rs147285345	p.Gln400Glu	missense variant	-	NC_000009.12:g.136433037G>C	ESP,ExAC,TOPMed,gnomAD
rs147285345	p.Gln400Ter	stop gained	-	NC_000009.12:g.136433037G>A	ESP,ExAC,TOPMed,gnomAD
COSM753176	p.Gln400His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136433035C>G	NCI-TCGA Cosmic
rs1314634788	p.Ile401Val	missense variant	-	NC_000009.12:g.136433034T>C	gnomAD
NCI-TCGA novel	p.Ile401GlyPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.136433025_136433035TGGTCTTGATC>-	NCI-TCGA
rs1183135467	p.Lys404Arg	missense variant	-	NC_000009.12:g.136433024T>C	TOPMed
rs761559591	p.Gly405Val	missense variant	-	NC_000009.12:g.136433021C>A	ExAC,gnomAD
rs767126396	p.Gly405Arg	missense variant	-	NC_000009.12:g.136433022C>G	ExAC,gnomAD
rs767126396	p.Gly405Arg	missense variant	-	NC_000009.12:g.136433022C>T	ExAC,gnomAD
rs762734978	p.Leu407Ser	missense variant	-	NC_000009.12:g.136433015A>G	ExAC
rs1392354724	p.Gly408Asp	missense variant	-	NC_000009.12:g.136433012C>T	gnomAD
rs863225202	p.Ser417Pro	missense variant	-	NC_000009.12:g.136432986A>G	-
RCV000201740	p.Ser417Pro	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432986A>G	ClinVar
rs1248746719	p.Leu419His	missense variant	-	NC_000009.12:g.136432979A>T	gnomAD
rs1269816718	p.Ile421Val	missense variant	-	NC_000009.12:g.136432974T>C	gnomAD
rs769067899	p.Thr422Met	missense variant	-	NC_000009.12:g.136432970G>A	ExAC,gnomAD
rs1356146470	p.Thr422Ala	missense variant	-	NC_000009.12:g.136432971T>C	gnomAD
rs769067899	p.Thr422Lys	missense variant	-	NC_000009.12:g.136432970G>T	ExAC,gnomAD
rs1410655635	p.Ser423Phe	missense variant	-	NC_000009.12:g.136432967G>A	TOPMed
rs780525765	p.Phe425Leu	missense variant	-	NC_000009.12:g.136432960G>C	ExAC,TOPMed,gnomAD
VAR_077250	p.Thr426Asn	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
rs1427552852	p.Gly428Asp	missense variant	-	NC_000009.12:g.136432583C>T	gnomAD
rs920086415	p.Gly428Ser	missense variant	-	NC_000009.12:g.136432584C>T	TOPMed,gnomAD
rs1473151563	p.Asp429Asn	missense variant	-	NC_000009.12:g.136432581C>T	gnomAD
rs1203074338	p.Gly430Arg	missense variant	-	NC_000009.12:g.136432578C>T	TOPMed,gnomAD
rs1278728778	p.Lys431Arg	missense variant	-	NC_000009.12:g.136432574T>C	gnomAD
rs1199320637	p.Val432Met	missense variant	-	NC_000009.12:g.136432572C>T	gnomAD
rs1022640639	p.Ala433Val	missense variant	-	NC_000009.12:g.136432568G>A	TOPMed,gnomAD
rs756789619	p.Arg435Trp	missense variant	-	NC_000009.12:g.136432563G>A	ExAC,TOPMed
rs121918129	p.Arg435Gln	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136432562C>T	UniProt,dbSNP
VAR_063013	p.Arg435Gln	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136432562C>T	UniProt
rs121918129	p.Arg435Gln	missense variant	-	NC_000009.12:g.136432562C>T	ExAC,TOPMed,gnomAD
RCV000416989	p.Arg435Trp	missense variant	Joubert Syndrome and Related Disorders	NC_000009.12:g.136432563G>A	ClinVar
RCV000201569	p.Arg435Gln	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432562C>T	ClinVar
RCV000022404	p.Arg435Gln	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136432562C>T	ClinVar
rs777463231	p.Leu437Val	missense variant	-	NC_000009.12:g.136432557G>C	ExAC,gnomAD
rs758022536	p.Leu437Pro	missense variant	-	NC_000009.12:g.136432556A>G	ExAC
rs1167225330	p.Asp438Gly	missense variant	-	NC_000009.12:g.136432553T>C	TOPMed
rs1359606472	p.Tyr439Cys	missense variant	-	NC_000009.12:g.136432550T>C	gnomAD
rs752497011	p.Thr440Ala	missense variant	-	NC_000009.12:g.136432548T>C	ExAC,gnomAD
RCV000383155	p.Thr442Ile	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432541G>A	ClinVar
rs201043370	p.Thr442Ile	missense variant	-	NC_000009.12:g.136432541G>A	ESP,ExAC,TOPMed,gnomAD
rs371811859	p.Val443Ile	missense variant	-	NC_000009.12:g.136432539C>T	ESP,ExAC,TOPMed,gnomAD
rs545195109	p.Gln444Arg	missense variant	-	NC_000009.12:g.136432535T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs545195109	p.Gln444Pro	missense variant	-	NC_000009.12:g.136432535T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1175787391	p.Ala445Val	missense variant	-	NC_000009.12:g.136432532G>A	gnomAD
rs1238625120	p.Leu446Pro	missense variant	-	NC_000009.12:g.136432529A>G	gnomAD
rs1289505793	p.Pro449Thr	missense variant	-	NC_000009.12:g.136432521G>T	gnomAD
COSM3699548	p.Pro449His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136432520G>T	NCI-TCGA Cosmic
rs368627245	p.Asn451Ser	missense variant	-	NC_000009.12:g.136432514T>C	ESP,ExAC,TOPMed,gnomAD
rs1554793007	p.Val452Met	missense variant	-	NC_000009.12:g.136432512C>T	-
RCV000636939	p.Val452Met	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432512C>T	ClinVar
rs1057517749	p.Asp454Gly	missense variant	-	NC_000009.12:g.136432505T>C	-
rs138150684	p.Asp454Asn	missense variant	-	NC_000009.12:g.136432506C>T	ESP,ExAC,TOPMed,gnomAD
RCV000412911	p.Asp454Gly	missense variant	-	NC_000009.12:g.136432505T>C	ClinVar
rs763184550	p.Thr455Asn	missense variant	-	NC_000009.12:g.136432502G>T	ExAC
rs775772293	p.Pro457Thr	missense variant	-	NC_000009.12:g.136432497G>T	ExAC,gnomAD
rs1042895970	p.Arg459Cys	missense variant	-	NC_000009.12:g.136432491G>A	TOPMed,gnomAD
rs770146958	p.Arg459His	missense variant	-	NC_000009.12:g.136432490C>T	ExAC,TOPMed,gnomAD
rs200837258	p.Ala462Thr	missense variant	-	NC_000009.12:g.136432482C>T	1000Genomes,TOPMed,gnomAD
RCV000388805	p.Ala462Thr	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136432482C>T	ClinVar
rs200837258	p.Ala462Thr	missense variant	-	NC_000009.12:g.136432482C>T	NCI-TCGA
rs868661165	p.Ala463Ser	missense variant	-	NC_000009.12:g.136432479C>A	gnomAD
rs199956627	p.Ala463Val	missense variant	-	NC_000009.12:g.136431985G>A	ExAC,TOPMed,gnomAD
rs868661165	p.Ala463Thr	missense variant	-	NC_000009.12:g.136432479C>T	gnomAD
rs1252233625	p.Asp464Gly	missense variant	-	NC_000009.12:g.136431982T>C	gnomAD
rs750331066	p.Val465Ile	missense variant	-	NC_000009.12:g.136431980C>T	ExAC,TOPMed,gnomAD
rs375909217	p.Arg468Cys	missense variant	-	NC_000009.12:g.136431971G>A	ESP,ExAC,TOPMed,gnomAD
rs112089228	p.Arg468His	missense variant	-	NC_000009.12:g.136431970C>T	NCI-TCGA,NCI-TCGA Cosmic
rs112089228	p.Arg468His	missense variant	-	NC_000009.12:g.136431970C>T	ExAC,TOPMed,gnomAD
COSM4692606	p.Asp470Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.136431965C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu471Ter	stop gained	-	NC_000009.12:g.136431962C>A	NCI-TCGA
VAR_077251	p.Trp474Arg	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
rs777010049	p.Phe475Ser	missense variant	-	NC_000009.12:g.136431949A>G	ExAC,TOPMed,gnomAD
rs759781033	p.Phe475Leu	missense variant	-	NC_000009.12:g.136431950A>G	ExAC
rs766669439	p.Phe478Cys	missense variant	-	NC_000009.12:g.136431940A>C	ExAC,gnomAD
rs1300257345	p.Asn479Thr	missense variant	-	NC_000009.12:g.136431937T>G	gnomAD
rs1391336957	p.Phe480Leu	missense variant	-	NC_000009.12:g.136431935A>G	TOPMed,gnomAD
rs761179746	p.Arg481Cys	missense variant	-	NC_000009.12:g.136431932G>A	ExAC,TOPMed,gnomAD
rs773590570	p.Arg481His	missense variant	-	NC_000009.12:g.136431931C>T	ExAC,TOPMed,gnomAD
rs761386815	p.Gly484Asp	missense variant	-	NC_000009.12:g.136431922C>T	ExAC,gnomAD
rs768384414	p.Gly485Arg	missense variant	-	NC_000009.12:g.136431920C>T	ExAC,gnomAD
rs367592401	p.Arg486His	missense variant	-	NC_000009.12:g.136431916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs75939033	p.Arg486Gly	missense variant	-	NC_000009.12:g.136431917G>C	ExAC,TOPMed,gnomAD
rs75939033	p.Arg486Cys	missense variant	-	NC_000009.12:g.136431917G>A	ExAC,TOPMed,gnomAD
RCV000420326	p.Arg486Cys	missense variant	-	NC_000009.12:g.136431917G>A	ClinVar
rs781083748	p.Val489Met	missense variant	-	NC_000009.12:g.136431908C>T	ExAC,TOPMed,gnomAD
rs781083748	p.Val489Met	missense variant	-	NC_000009.12:g.136431908C>T	NCI-TCGA
rs375301475	p.Asp490Glu	missense variant	-	NC_000009.12:g.136431903G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757222534	p.Asp490Tyr	missense variant	-	NC_000009.12:g.136431905C>A	ExAC,gnomAD
rs757222534	p.Asp490Asn	missense variant	-	NC_000009.12:g.136431905C>T	ExAC,gnomAD
RCV000201688	p.Asp490Tyr	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136431905C>A	ClinVar
rs371375165	p.Ala491Thr	missense variant	-	NC_000009.12:g.136431902C>T	1000Genomes,ESP,ExAC,gnomAD
rs374083402	p.Leu493Pro	missense variant	-	NC_000009.12:g.136431895A>G	ESP,ExAC,gnomAD
rs766692376	p.Cys494Tyr	missense variant	-	NC_000009.12:g.136431892C>T	ExAC,TOPMed,gnomAD
rs766692376	p.Cys494Phe	missense variant	-	NC_000009.12:g.136431892C>A	ExAC,TOPMed,gnomAD
rs538188644	p.Gly496Val	missense variant	-	NC_000009.12:g.136431886C>A	1000Genomes,ExAC,gnomAD
rs370876407	p.Val501Leu	missense variant	-	NC_000009.12:g.136431872C>G	ExAC,TOPMed,gnomAD
rs1165439901	p.Val501Glu	missense variant	-	NC_000009.12:g.136431871A>T	gnomAD
rs370876407	p.Val501Met	missense variant	-	NC_000009.12:g.136431872C>T	ExAC,TOPMed,gnomAD
rs370876407	p.Val501Leu	missense variant	-	NC_000009.12:g.136431872C>A	ExAC,TOPMed,gnomAD
rs769531967	p.Pro502Leu	missense variant	-	NC_000009.12:g.136431868G>A	ExAC,TOPMed,gnomAD
rs769531967	p.Pro502Arg	missense variant	-	NC_000009.12:g.136431868G>C	ExAC,TOPMed,gnomAD
rs370661476	p.Ala503Val	missense variant	-	NC_000009.12:g.136431865G>A	ESP,ExAC,TOPMed,gnomAD
rs370661476	p.Ala503Val	missense variant	-	NC_000009.12:g.136431865G>A	NCI-TCGA,NCI-TCGA Cosmic
rs10870188	p.His507Gln	missense variant	-	NC_000009.12:g.136431852G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1246194868	p.Asp508Asn	missense variant	-	NC_000009.12:g.136431851C>T	gnomAD
rs1373092301	p.Gln509Arg	missense variant	-	NC_000009.12:g.136431847T>C	TOPMed,gnomAD
rs943352173	p.Ile511Asn	missense variant	-	NC_000009.12:g.136431841A>T	TOPMed,gnomAD
rs1039047946	p.Ile511Leu	missense variant	-	NC_000009.12:g.136431842T>G	TOPMed,gnomAD
rs750777734	p.Arg512Gln	missense variant	-	NC_000009.12:g.136431838C>T	ExAC,TOPMed,gnomAD
rs374152018	p.Arg512Gly	missense variant	-	NC_000009.12:g.136431839G>C	ESP,ExAC,TOPMed,gnomAD
rs750777734	p.Arg512Leu	missense variant	-	NC_000009.12:g.136431838C>A	ExAC,TOPMed,gnomAD
rs374152018	p.Arg512Trp	missense variant	-	NC_000009.12:g.136431839G>A	ESP,ExAC,TOPMed,gnomAD
rs1380133380	p.Glu513Ala	missense variant	-	NC_000009.12:g.136431835T>G	TOPMed,gnomAD
rs1380133380	p.Glu513Gly	missense variant	-	NC_000009.12:g.136431835T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu513ArgPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.136431836C>-	NCI-TCGA
rs768016672	p.Met514Val	missense variant	-	NC_000009.12:g.136431833T>C	ExAC
rs1392649760	p.Met514Ile	missense variant	-	NC_000009.12:g.136431831C>A	gnomAD
rs13297509	p.Arg515Trp	missense variant	-	NC_000009.12:g.136431830G>A	ExAC,TOPMed,gnomAD
rs752106876	p.Arg515Gln	missense variant	-	NC_000009.12:g.136431829C>T	ExAC,TOPMed,gnomAD
RCV000022402	p.Arg515Trp	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136431830G>A	ClinVar
rs13294000	p.Lys516Thr	missense variant	-	NC_000009.12:g.136431826T>G	TOPMed,gnomAD
rs13294000	p.Lys516Arg	missense variant	-	NC_000009.12:g.136431826T>C	TOPMed,gnomAD
rs1336267333	p.Gly517Arg	missense variant	-	NC_000009.12:g.136431824C>T	TOPMed
rs1335027523	p.Gly517Glu	missense variant	-	NC_000009.12:g.136431117C>T	gnomAD
rs760443315	p.Ser518Ala	missense variant	-	NC_000009.12:g.136431115A>C	ExAC,gnomAD
rs1404412394	p.Ser518Tyr	missense variant	-	NC_000009.12:g.136431114G>T	TOPMed,gnomAD
rs773033007	p.Lys521Glu	missense variant	-	NC_000009.12:g.136431106T>C	ExAC,TOPMed,gnomAD
rs771866500	p.Gly522Ala	missense variant	-	NC_000009.12:g.136431102C>G	ExAC,TOPMed,gnomAD
RCV000636942	p.Gly522Ala	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136431102C>G	ClinVar
rs1184705015	p.Phe523Tyr	missense variant	-	NC_000009.12:g.136431099A>T	TOPMed,gnomAD
rs748139386	p.Glu525Asp	missense variant	-	NC_000009.12:g.136431092C>A	ExAC
rs746867724	p.Pro526Leu	missense variant	-	NC_000009.12:g.136431090G>A	ExAC,gnomAD
RCV000201636	p.Pro526Leu	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136431090G>A	ClinVar
rs950409881	p.Ile528Met	missense variant	-	NC_000009.12:g.136431083G>C	TOPMed,gnomAD
rs781540345	p.Leu531Phe	missense variant	-	NC_000009.12:g.136431076G>A	ExAC,gnomAD
rs757592615	p.Ser533Leu	missense variant	-	NC_000009.12:g.136431069G>A	ExAC,gnomAD
rs757592615	p.Ser533Leu	missense variant	-	NC_000009.12:g.136431069G>A	NCI-TCGA,NCI-TCGA Cosmic
rs747333701	p.Tyr534His	missense variant	-	NC_000009.12:g.136431067A>G	ExAC,gnomAD
VAR_077252	p.Tyr534Asp	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
rs1382261351	p.Lys535Arg	missense variant	-	NC_000009.12:g.136431063T>C	gnomAD
rs1187704522	p.Ile538Val	missense variant	-	NC_000009.12:g.136431055T>C	TOPMed
rs375126841	p.Gly539Arg	missense variant	-	NC_000009.12:g.136431052C>T	ESP,TOPMed,gnomAD
rs1159924823	p.Lys540Arg	missense variant	-	NC_000009.12:g.136431048T>C	TOPMed
rs370618502	p.Thr542Met	missense variant	-	NC_000009.12:g.136431042G>A	ESP,ExAC,TOPMed,gnomAD
rs1450087861	p.Thr542Ser	missense variant	-	NC_000009.12:g.136431043T>A	gnomAD
rs753398503	p.Tyr543Ter	stop gained	-	NC_000009.12:g.136431038G>T	ExAC,TOPMed,gnomAD
rs753398503	p.Tyr543Ter	stop gained	-	NC_000009.12:g.136431038G>C	ExAC,TOPMed,gnomAD
rs1452197900	p.Tyr543Cys	missense variant	-	NC_000009.12:g.136431039T>C	gnomAD
rs1161636527	p.Asp544Asn	missense variant	-	NC_000009.12:g.136431037C>T	gnomAD
rs1161636527	p.Asp544Asn	missense variant	-	NC_000009.12:g.136431037C>T	NCI-TCGA
rs765986823	p.Thr546Ala	missense variant	-	NC_000009.12:g.136431031T>C	ExAC,gnomAD
rs1165161907	p.Gln549Glu	missense variant	-	NC_000009.12:g.136431022G>C	gnomAD
rs750136842	p.Gln549Arg	missense variant	-	NC_000009.12:g.136431021T>C	ExAC,gnomAD
rs1310853922	p.Arg550Thr	missense variant	-	NC_000009.12:g.136431018C>G	TOPMed
rs75342839	p.Thr551Met	missense variant	-	NC_000009.12:g.136431015G>A	1000Genomes,ExAC,TOPMed
RCV000414446	p.Thr551Met	missense variant	-	NC_000009.12:g.136431015G>A	ClinVar
rs75342839	p.Thr551Met	missense variant	-	NC_000009.12:g.136431015G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1243230127	p.Pro552Ala	missense variant	-	NC_000009.12:g.136431013G>C	gnomAD
rs761578787	p.Thr555Met	missense variant	-	NC_000009.12:g.136431003G>A	ExAC,gnomAD
rs992814593	p.Arg557His	missense variant	-	NC_000009.12:g.136430409C>T	TOPMed,gnomAD
rs1024279229	p.Arg557Cys	missense variant	-	NC_000009.12:g.136430410G>A	TOPMed,gnomAD
RCV000489080	p.Arg557Cys	missense variant	-	NC_000009.12:g.136430410G>A	ClinVar
rs1417022247	p.Val558Phe	missense variant	-	NC_000009.12:g.136430407C>A	gnomAD
rs1417022247	p.Val558Ile	missense variant	-	NC_000009.12:g.136430407C>T	gnomAD
rs1417022247	p.Val558Ile	missense variant	-	NC_000009.12:g.136430407C>T	NCI-TCGA Cosmic
rs376839080	p.Leu559Met	missense variant	-	NC_000009.12:g.136430404A>T	ESP,ExAC,TOPMed,gnomAD
rs863225197	p.Ser562Gly	missense variant	-	NC_000009.12:g.136430395T>C	-
RCV000201622	p.Ser562Gly	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136430395T>C	ClinVar
rs121918128	p.Arg563His	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430391C>T	UniProt,dbSNP
VAR_063016	p.Arg563His	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430391C>T	UniProt
rs121918128	p.Arg563His	missense variant	-	NC_000009.12:g.136430391C>T	ExAC,gnomAD
rs371960390	p.Arg563Cys	missense variant	-	NC_000009.12:g.136430392G>A	ESP,ExAC,gnomAD
RCV000022403	p.Arg563His	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430391C>T	ClinVar
rs1205389223	p.His564Tyr	missense variant	-	NC_000009.12:g.136430389G>A	gnomAD
rs1306975739	p.His564Gln	missense variant	-	NC_000009.12:g.136430387G>T	TOPMed,gnomAD
rs1212544429	p.Lys565Arg	missense variant	-	NC_000009.12:g.136430385T>C	TOPMed
rs140543689	p.Gly566Asp	missense variant	-	NC_000009.12:g.136430382C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779177166	p.Asp567Val	missense variant	-	NC_000009.12:g.136430379T>A	ExAC,TOPMed,gnomAD
rs888610698	p.Ser572Arg	missense variant	-	NC_000009.12:g.136430363G>T	TOPMed,gnomAD
rs769104210	p.Ser572Asn	missense variant	-	NC_000009.12:g.136430364C>T	ExAC,gnomAD
rs1025785482	p.Ser574Phe	missense variant	-	NC_000009.12:g.136430358G>A	TOPMed
rs1461088557	p.Ser575Phe	missense variant	-	NC_000009.12:g.136430355G>A	gnomAD
rs749810093	p.Ser575Pro	missense variant	-	NC_000009.12:g.136430356A>G	ExAC,TOPMed,gnomAD
rs1352231723	p.Pro577Ser	missense variant	-	NC_000009.12:g.136430350G>A	gnomAD
rs147967974	p.Pro577Arg	missense variant	-	NC_000009.12:g.136430349G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000489191	p.Pro577Arg	missense variant	-	NC_000009.12:g.136430349G>C	ClinVar
rs559636009	p.Gly578Arg	missense variant	-	NC_000009.12:g.136430347C>T	TOPMed,gnomAD
rs1173901104	p.Gly578Glu	missense variant	-	NC_000009.12:g.136430346C>T	gnomAD
RCV000194100	p.Gly578Arg	missense variant	-	NC_000009.12:g.136430347C>T	ClinVar
VAR_063017	p.Lys580Glu	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
rs943471686	p.Thr581Met	missense variant	-	NC_000009.12:g.136430337G>A	TOPMed,gnomAD
rs1473447000	p.Thr581Ser	missense variant	-	NC_000009.12:g.136430338T>A	gnomAD
rs751316714	p.Asp583Gly	missense variant	-	NC_000009.12:g.136430331T>C	ExAC,gnomAD
rs756888841	p.Asp583Asn	missense variant	-	NC_000009.12:g.136430332C>T	ExAC,TOPMed,gnomAD
rs1270790458	p.His584Arg	missense variant	-	NC_000009.12:g.136430328T>C	TOPMed
rs752300607	p.Arg585His	missense variant	-	NC_000009.12:g.136430325C>T	ExAC,TOPMed,gnomAD
rs763992407	p.Arg585Cys	missense variant	-	NC_000009.12:g.136430326G>A	ExAC,TOPMed,gnomAD
rs763992407	p.Arg585Cys	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430326G>A	UniProt,dbSNP
VAR_077253	p.Arg585Cys	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430326G>A	UniProt
RCV000201629	p.Arg585His	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136430325C>T	ClinVar
RCV000201536	p.Val587Ter	frameshift	Joubert syndrome (JBTS)	NC_000009.12:g.136430319del	ClinVar
rs1308391041	p.Tyr588His	missense variant	-	NC_000009.12:g.136430317A>G	gnomAD
rs1364697270	p.Tyr588Ter	stop gained	-	NC_000009.12:g.136430315A>C	TOPMed,gnomAD
RCV000785904	p.Tyr588Cys	missense variant	Joubert syndrome 1 (JBTS1)	NC_000009.12:g.136430316T>C	ClinVar
rs925789744	p.Arg592Trp	missense variant	-	NC_000009.12:g.136430305G>A	TOPMed,gnomAD
rs1338062785	p.Arg592Leu	missense variant	-	NC_000009.12:g.136430304C>A	TOPMed,gnomAD
rs925789744	p.Arg592Gly	missense variant	-	NC_000009.12:g.136430305G>C	TOPMed,gnomAD
rs1338062785	p.Arg592Gln	missense variant	-	NC_000009.12:g.136430304C>T	TOPMed,gnomAD
rs1415857521	p.Val593Leu	missense variant	-	NC_000009.12:g.136430302C>G	TOPMed
rs765327224	p.Arg596Thr	missense variant	-	NC_000009.12:g.136430292C>G	ExAC
rs530758804	p.Arg596Ser	missense variant	-	NC_000009.12:g.136430291C>A	gnomAD
rs760790290	p.Pro597Leu	missense variant	-	NC_000009.12:g.136430289G>A	ExAC,gnomAD
rs750836133	p.Arg599Gln	missense variant	-	NC_000009.12:g.136430283C>T	ExAC,TOPMed,gnomAD
rs750836133	p.Arg599Leu	missense variant	-	NC_000009.12:g.136430283C>A	ExAC,TOPMed,gnomAD
rs750836133	p.Arg599Pro	missense variant	-	NC_000009.12:g.136430283C>G	ExAC,TOPMed,gnomAD
rs1191043398	p.Arg599Ter	stop gained	-	NC_000009.12:g.136430284G>A	gnomAD
rs749720435	p.Asn601Ser	missense variant	-	NC_000009.12:g.136430277T>C	ExAC,TOPMed,gnomAD
rs1417182226	p.Asn601His	missense variant	-	NC_000009.12:g.136430278T>G	gnomAD
NCI-TCGA novel	p.Ile602Thr	missense variant	-	NC_000009.12:g.136429805A>G	NCI-TCGA
rs746372090	p.Pro603Leu	missense variant	-	NC_000009.12:g.136429802G>A	ExAC,TOPMed,gnomAD
rs776136400	p.Ala606Pro	missense variant	-	NC_000009.12:g.136429794C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala606Asp	missense variant	-	NC_000009.12:g.136429793G>T	NCI-TCGA
rs375144690	p.Gly607Asp	missense variant	-	NC_000009.12:g.136429790C>T	ESP,ExAC,TOPMed,gnomAD
rs1423878411	p.Gly607Ser	missense variant	-	NC_000009.12:g.136429791C>T	TOPMed,gnomAD
rs1423878411	p.Gly607Arg	missense variant	-	NC_000009.12:g.136429791C>G	TOPMed,gnomAD
rs1251363265	p.Lys608Glu	missense variant	-	NC_000009.12:g.136429788T>C	TOPMed
rs777549235	p.Phe609Ser	missense variant	-	NC_000009.12:g.136429784A>G	ExAC,gnomAD
rs199875003	p.Asp610Glu	missense variant	-	NC_000009.12:g.136429780A>T	1000Genomes,ExAC,gnomAD
rs771894087	p.Asp610Asn	missense variant	-	NC_000009.12:g.136429782C>T	ExAC,gnomAD
rs1338117436	p.Arg611Thr	missense variant	-	NC_000009.12:g.136429778C>G	TOPMed
COSM1106786	p.Glu612Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.136429776C>A	NCI-TCGA Cosmic
rs1056991920	p.Leu613Pro	missense variant	-	NC_000009.12:g.136429772A>G	TOPMed,gnomAD
RCV000689290	p.Leu615Ter	nonsense	Joubert syndrome (JBTS)	NC_000009.12:g.136429766A>C	ClinVar
RCV000697824	p.Leu616Ile	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136429764G>T	ClinVar
rs1477067987	p.Gly617Arg	missense variant	-	NC_000009.12:g.136429761C>G	gnomAD
rs1271443015	p.Ile618Ser	missense variant	-	NC_000009.12:g.136429757A>C	gnomAD
RCV000504513	p.Arg620Ter	frameshift	-	NC_000009.12:g.136429754_136429755del	ClinVar
rs142759730	p.Arg621Trp	missense variant	-	NC_000009.12:g.136429749G>A	ESP,ExAC,TOPMed,gnomAD
RCV000490169	p.Arg621Trp	missense variant	-	NC_000009.12:g.136429749G>A	ClinVar
VAR_076892	p.Arg621Gln	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
rs754887212	p.Ser623Leu	missense variant	-	NC_000009.12:g.136429742G>A	ExAC,TOPMed,gnomAD
rs148539728	p.Glu625Asp	missense variant	-	NC_000009.12:g.136429735C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757272800	p.Ile626Thr	missense variant	-	NC_000009.12:g.136429733A>G	ExAC,gnomAD
rs121918127	p.Gln627Ter	stop gained	-	NC_000009.12:g.136429731G>A	gnomAD
rs121918127	p.Gln627Glu	missense variant	-	NC_000009.12:g.136429731G>C	gnomAD
RCV000000427	p.Gln627Ter	nonsense	MORM syndrome (MORMS)	NC_000009.12:g.136429731G>A	ClinVar
rs763184652	p.Gln633Glu	missense variant	-	NC_000009.12:g.136429713G>C	ExAC,TOPMed,gnomAD
RCV000201717	p.Gln633Ter	frameshift	Joubert syndrome (JBTS)	NC_000009.12:g.136429713_136429714del	ClinVar
NCI-TCGA novel	p.Ser634Thr	missense variant	-	NC_000009.12:g.136429709C>G	NCI-TCGA
rs1393260348	p.Gln635Pro	missense variant	-	NC_000009.12:g.136429706T>G	gnomAD
rs1330792502	p.Gln635Lys	missense variant	-	NC_000009.12:g.136429707G>T	gnomAD
rs753001340	p.Ile640Thr	missense variant	-	NC_000009.12:g.136429691A>G	ExAC,gnomAD
rs1397261225	p.Ile640Val	missense variant	-	NC_000009.12:g.136429692T>C	gnomAD
RCV000196839	p.Ile640Thr	missense variant	Joubert syndrome (JBTS)	NC_000009.12:g.136429691A>G	ClinVar
rs765521242	p.Cys641Gly	missense variant	-	NC_000009.12:g.136429689A>C	ExAC,gnomAD
RCV000705026	p.Cys641Ter	frameshift	Joubert syndrome (JBTS)	NC_000009.12:g.136429688del	ClinVar
VAR_077254	p.Cys641Arg	Missense	Joubert syndrome 1 (JBTS1) [MIM:213300]	-	UniProt
rs1480311306	p.Val643Ile	missense variant	-	NC_000009.12:g.136429683C>T	gnomAD
rs776988648	p.Ter645Gly	stop lost	-	NC_000009.12:g.136429677A>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001807	Aggressive behavior	phenotype	HPO
C0003578	Apnea	phenotype	HPO
C0005745	Blepharoptosis	disease	HPO
C0007758	Cerebellar Ataxia	phenotype	HPO
C0008780	Ciliary Motility Disorders	group	CTD_human
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND
C0009714	Hepatic Fibrosis, Congenital	disease	HPO
C0015398	Eye Diseases, Hereditary	group	CTD_human
C0016506	Foot Deformities	group	HPO
C0019209	Hepatomegaly	phenotype	HPO
C0020796	Profound Mental Retardation	disease	CTD_human
C0022658	Kidney Diseases	group	HPO
C0023012	Language Delay	phenotype	HPO
C0024421	Macroglossia	disease	HPO
C0025149	Medulloblastoma	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025363	Mental Retardation, Psychosocial	disease	CTD_human
C0026351	Moderate mental retardation (I.Q. 35-49)	disease	HPO
C0026827	Muscle hypotonia	phenotype	HPO
C0028738	Nystagmus	disease	HPO
C0028754	Obesity	disease	CTD_human;RGD
C0028860	Oculocerebrorenal Syndrome	disease	BEFREE
C0030846	Penile Diseases	group	CTD_human
C0036601	Self Mutilation	phenotype	HPO
C0036875	Disorders of Sex Development	group	GENOMICS_ENGLAND
C0042798	Low Vision	disease	HPO
C0086543	Cataract	disease	HPO
C0086565	Liver Dysfunction	phenotype	HPO
C0151766	Liver function tests abnormal finding	phenotype	HPO
C0151889	Hyperreflexia	phenotype	HPO
C0152427	Polydactyly	disease	BEFREE;GENOMICS_ENGLAND
C0155299	Coloboma of optic disc	disease	HPO
C0232466	Feeding difficulties	phenotype	HPO
C0233715	Speech impairment	phenotype	HPO
C0235996	Elevated liver enzymes	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0239946	Fibrosis, Liver	disease	HPO
C0240063	Coloboma of iris	phenotype	HPO
C0240896	Fundus coloboma	disease	HPO
C0241210	Speech Delay	phenotype	HPO
C0241442	Protrusion of tongue	phenotype	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0266464	Polymicrogyria	disease	BEFREE
C0278152	Hemifacial Spasm	phenotype	HPO
C0278510	Childhood Medulloblastoma	disease	BEFREE
C0278876	Adult Medulloblastoma	disease	BEFREE
C0311277	Obesity, Abdominal	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	HPO
C0424323	Physical aggression	phenotype	HPO
C0431399	Familial aplasia of the vermis	disease	BEFREE;CLINVAR;CTD_human;HPO;ORPHANET;UNIPROT
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0438237	Liver enzymes abnormal	phenotype	HPO
C0438717	Transaminases increased	phenotype	HPO
C0454644	Delayed speech and language development	phenotype	HPO
C0520680	Sleep Apnea, Central	disease	HPO
C0557874	Global developmental delay	disease	HPO
C0575081	Gait abnormality	group	HPO
C0678230	Congenital Epicanthus	disease	HPO
C0752166	Bardet-Biedl Syndrome	disease	BEFREE
C0854723	Retinal Dystrophies	group	HPO
C0877359	Increased liver function tests	phenotype	HPO
C0878681	Dent's disease	disease	BEFREE
C0917816	Mental deficiency	disease	CTD_human;HPO
C1408258	Kidney damage	phenotype	HPO
C1457883	Aggressive reaction	phenotype	HPO
C1510497	Lens Opacities	phenotype	HPO
C1691228	Cystic Kidney Diseases	group	GENOMICS_ENGLAND
C1836047	Long face	phenotype	HPO
C1837260	Prominent forehead	phenotype	HPO
C1837458	Impaired smooth pursuit	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1840379	Cerebellar vermis hypoplasia	phenotype	HPO
C1842003	Subclinical abnormal liver function tests	phenotype	HPO
C1842584	Impaired saccades	phenotype	HPO
C1842688	Hypoplasia of the brainstem	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1848530	Abnormal visual pursuit	phenotype	HPO
C1848701	Elevated hepatic transaminases	phenotype	HPO
C1854418	Biparietal narrowing	phenotype	HPO
C1855284	Intrahepatic biliary atresia	phenotype	HPO
C1855677	Brainstem dysplasia	phenotype	HPO
C1857662	COACH syndrome	disease	ORPHANET
C1857802	MORM syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C1858120	Generalized hypotonia	phenotype	HPO
C1859292	Triangular-shaped open mouth	phenotype	HPO
C1859846	Childhood-onset truncal obesity	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865060	Molar tooth sign on MRI	phenotype	HPO
C1867446	Bulging forehead	phenotype	HPO
C1868571	Highly arched eyebrow	phenotype	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C3279222	Aplasia/Hypoplasia of the cerebellum	phenotype	HPO
C3489733	Oculomotor apraxia	disease	HPO
C3665347	Visual Impairment	phenotype	HPO
C3714506	Meckel syndrome type 1	disease	BEFREE
C3714756	Intellectual Disability	group	CTD_human;GENOMICS_ENGLAND;HPO
C3806216	Neonatal breathing dysregulation	phenotype	HPO
C3806218	Episodic tachypnea	phenotype	HPO
C3810214	Elongated superior cerebellar peduncle	phenotype	HPO
C3887499	Renal cyst	phenotype	BEFREE
C4020849	Bowed and upward slanting eyebrows	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020886	Defective or absent horizontal voluntary eye movements	phenotype	HPO
C4020922	Enlarged fossa interpeduncularis	phenotype	HPO
C4021109	Long cerebellar peduncles	phenotype	HPO
C4025719	Dysgenesis of the cerebellar vermis	phenotype	HPO
C4025841	Abnormality of saccadic eye movements	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4274118	Joubert syndrome with ocular defect	disease	ORPHANET
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND
C4280532	Decreased width of the skull	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004445	inositol-polyphosphate 5-phosphatase activity	TAS
GO:0016314	phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006661	phosphatidylinositol biosynthetic process	TAS
GO:0008150	biological_process	ND
GO:0014067	negative regulation of phosphatidylinositol 3-kinase signaling	IEA
GO:0017148	negative regulation of translation	IEA
GO:0046855	inositol phosphate dephosphorylation	IEA
GO:0046856	phosphatidylinositol dephosphorylation	IEA
GO:1903565	negative regulation of protein localization to cilium	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001726	ruffle	IEA
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	IEA
GO:0005929	cilium	TAS
GO:0005930	axoneme	IDA
GO:0032580	Golgi cisterna membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1483255	PI Metabolism	TAS
R-HSA-1483257	Phospholipid metabolism	TAS
R-HSA-1660514	Synthesis of PIPs at the Golgi membrane	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-556833	Metabolism of lipids	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620920	Cargo trafficking to the periciliary membrane	TAS
R-HSA-5624958	ARL13B-mediated ciliary trafficking of INPP5E	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016403	2,4-dinitrotoluene	2,4-dinitrotoluene affects the expression of INPP5E mRNA	21346803
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of INPP5E mRNA	21346803
D000082	Acetaminophen	Acetaminophen affects the expression of INPP5E mRNA	17562736
D020106	Acrylamide	Acrylamide results in decreased expression of INPP5E mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of INPP5E mRNA	19770486
C044887	beta-methylcholine	beta-methylcholine affects the expression of INPP5E mRNA	21179406
C006780	bisphenol A	bisphenol A affects the expression of INPP5E mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of INPP5E mRNA	26063408
C006780	bisphenol A	bisphenol A results in increased methylation of INPP5E gene	28505145
C018475	butyraldehyde	butyraldehyde results in decreased expression of INPP5E mRNA	26079696
D002945	Cisplatin	Cisplatin results in decreased expression of INPP5E mRNA	27594783
C018021	cobaltous chloride	cobaltous chloride results in increased expression of INPP5E mRNA	19376846
D003976	Diazinon	Diazinon results in increased methylation of INPP5E gene	22964155
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of INPP5E mRNA	21266533
C000944	dicrotophos	dicrotophos results in increased expression of INPP5E mRNA	28302478
D004317	Doxorubicin	Doxorubicin results in decreased expression of INPP5E mRNA	29803840
D004317	Doxorubicin	Doxorubicin results in decreased expression of INPP5E mRNA	26873546
C024565	ethylene dichloride	ethylene dichloride results in increased expression of INPP5E mRNA	28189721
D005472	Fluorouracil	TP53 protein affects the reaction [Fluorouracil results in decreased expression of INPP5E mRNA]	15016801
C039281	furan	furan results in decreased expression of INPP5E mRNA	24183702
D019259	Lamivudine	[Zidovudine co-treated with Lamivudine] results in increased expression of INPP5E mRNA	18313992
D010936	Plant Extracts	Plant Extracts results in decreased expression of INPP5E mRNA	23557933
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of INPP5E mRNA	23221170
D013467	Sulindac	Sulindac results in increased expression of INPP5E mRNA	11906190
D000077210	Sunitinib	Sunitinib results in increased expression of INPP5E mRNA	31533062
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of INPP5E mRNA	21570461
D014303	Trinitrotoluene	Trinitrotoluene affects the expression of INPP5E mRNA	21346803
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of INPP5E mRNA	26179874
D014635	Valproic Acid	Valproic Acid results in increased methylation of INPP5E gene	29154799
D015215	Zidovudine	[Zidovudine co-treated with Lamivudine] results in increased expression of INPP5E mRNA	18313992

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0333	Golgi apparatus
KW-0378	Hydrolase
KW-0979	Joubert syndrome
KW-0443	Lipid metabolism
KW-0449	Lipoprotein
KW-0472	Membrane
KW-0991	Mental retardation
KW-0488	Methylation
KW-0550	Obesity
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0636	Prenylation
KW-1185	Reference proteome
KW-0677	Repeat

Interpro

InterPro ID	InterPro Term
IPR036691	Endo/exonu/phosph_ase_sf
IPR005135	Endo/exonuclease/phosphatase
IPR042478	INPP5E
IPR000300	IPPc

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF03372	Exo_endo_phos

Gene: INPP5E

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction