CEP290 (centrosomal protein 290)

Gene

• Entrez ID: 80184
• Gene name: Centrosomal protein 290
• Gene symbol: CEP290
• Synonyms (NCBI Gene): 3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16
• Chromosome: 12
• Chromosome location: 12q21.32
• Summary: This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centros

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11836796	T>C,G	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant, missense variant, non coding transcript variant
rs45502896	C>A,G,T	Likely-pathogenic, benign	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant, stop gained
rs62638179	C>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs62638180	TAAAG>-	Not-provided, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs62640570	T>-,TT	Pathogenic, likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, stop gained
rs62640574	G>A	Not-provided, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs73192874	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs77778467	T>C	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs137852832	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852833	A>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852834	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs137852835	G>A,C	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant, missense variant
rs140236736	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs150296134	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs181121175	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, missense variant, synonymous variant, coding sequence variant
rs182369459	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs182851622	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs183655276	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs184143186	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs188164241	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs191613017	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant, missense variant
rs199770158	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity, not-provided	Intron variant, genic upstream transcript variant
rs200729812	T>A	Conflicting-interpretations-of-pathogenicity	Intron variant, genic upstream transcript variant
rs200818935	T>C	Likely-pathogenic	Splice acceptor variant, genic upstream transcript variant
rs201218801	C>T	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs201295052	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs202159966	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs267606719	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs281865188	->T	Pathogenic, not-provided	Frameshift variant, non coding transcript variant, coding sequence variant
rs281865192	T>C	Pathogenic	Intron variant
rs369451049	G>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs369523378	T>C	Likely-pathogenic	Splice acceptor variant
rs370119681	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs371159780	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs371496675	A>T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs371525247	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs372349042	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs373913704	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs375548374	G>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, stop gained, genic downstream transcript variant, 3 prime UTR variant, coding sequence variant
rs376493409	G>A,T	Pathogenic	Missense variant, stop gained, non coding transcript variant, coding sequence variant
rs376645523	C>A,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs377227262	A>C	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs386834148	AT>-	Pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834149	T>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, non coding transcript variant, frameshift variant, coding sequence variant, upstream transcript variant
rs386834151	TT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834152	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs386834153	C>A,G	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, stop gained, coding sequence variant
rs386834155	TT>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834156	CT>A	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834157	ATCT>-	Likely-pathogenic, pathogenic	Genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs386834158	T>-	Likely-pathogenic, pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs386834159	A>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs539400286	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs561598805	G>A,T	Likely-benign, likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs575767207	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs587779733	T>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783009	C>T	Pathogenic	Splice donor variant
rs587783010	AA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs587783016	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs587783017	T>-,TT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs727503853	GTTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs727503855	TT>-,T,TTT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs745522483	CAAAA>-,CAAAACAAAA	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs747323414	G>-	Likely-pathogenic, uncertain-significance	Intron variant
rs747835249	CA>-	Likely-pathogenic, pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs748034744	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant
rs749331348	TAGT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs749439750	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs751361090	->A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs752942122	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs753884599	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs754728136	AATT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs756302731	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs757609119	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs757641323	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs758329611	T>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, non coding transcript variant, frameshift variant
rs760415289	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs760540562	C>T	Pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs760915898	C>T	Pathogenic-likely-pathogenic, uncertain-significance, likely-pathogenic	Splice donor variant
rs763473957	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs764309755	TT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs765002773	A>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs765483163	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766608755	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs766670248	C>T	Likely-pathogenic	Intron variant, splice acceptor variant, genic downstream transcript variant
rs766952056	C>T	Pathogenic	Splice donor variant
rs771266705	TTTTA>-	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs771454167	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant
rs772170760	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs773386777	T>C	Pathogenic	Splice acceptor variant
rs773622064	T>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs776645403	G>A	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs777464278	C>A	Likely-pathogenic	Splice acceptor variant
rs778030031	C>G,T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs779262951	G>A,T	Pathogenic	Synonymous variant, stop gained, non coding transcript variant, coding sequence variant
rs780225183	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs780624853	TTCT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs780805963	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs786205620	T>-	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797044604	C>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863224523	TT>-	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs863225182	C>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225183	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225184	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs863225185	A>C	Pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs863225186	C>T	Pathogenic	Splice donor variant
rs863225187	G>T	Pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs863225189	A>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs878853360	C>A,T	Uncertain-significance, likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs878853361	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs878853362	TA>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs878855334	T>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant, stop gained
rs886039805	AA>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs886039808	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042020	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042153	G>A	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042359	T>C	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs886042360	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs886042734	CT>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 3 prime UTR variant, genic downstream transcript variant
rs886043303	CTCT>-	Pathogenic	Non coding transcript variant, frameshift variant, genic upstream transcript variant, upstream transcript variant, coding sequence variant
rs886044332	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs965522059	C>T	Pathogenic	Genic upstream transcript variant, splice acceptor variant
rs968692633	C>G	Pathogenic	Splice acceptor variant
rs1039146791	A>C,G	Pathogenic	Genic downstream transcript variant, intron variant
rs1057517886	T>A	Likely-pathogenic	Non coding transcript variant, stop gained, genic upstream transcript variant, coding sequence variant
rs1057518822	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1057519165	T>-	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, frameshift variant, genic downstream transcript variant
rs1057519245	C>T	Likely-pathogenic	Non coding transcript variant, synonymous variant, coding sequence variant
rs1060499781	->CC	Likely-pathogenic	Non coding transcript variant, splice donor variant, coding sequence variant, genic downstream transcript variant
rs1064793733	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1064797171	->AA	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1170451277	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, upstream transcript variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs1192112844	C>A,T	Likely-pathogenic	Splice acceptor variant
rs1206723575	A>G,T	Likely-pathogenic	Stop gained, non coding transcript variant, missense variant, coding sequence variant
rs1209421607	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1213286417	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1221464366	AG>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1226324483	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1272411609	G>C,T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1278679056	T>A	Pathogenic	Upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, genic upstream transcript variant
rs1290241933	G>A	Pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1294402003	->GATTA	Pathogenic	3 prime UTR variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1302558061	A>C	Pathogenic	Intron variant
rs1339975972	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1369768287	A>G	Likely-pathogenic	Splice donor variant
rs1452465499	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1459653241	G>A,C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, missense variant
rs1465414886	G>A,C	Likely-pathogenic	Stop gained, missense variant, coding sequence variant, non coding transcript variant
rs1468942944	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555197766	T>A	Pathogenic	Non coding transcript variant, coding sequence variant, intron variant, stop gained, genic downstream transcript variant
rs1555200648	A>T	Likely-pathogenic	Splice donor variant
rs1555201796	CTCGT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555202126	G>C	Likely-pathogenic	Intron variant
rs1555205328	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555208180	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555208870	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555212150	TC>CA	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555212271	->A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555213161	T>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555213204	T>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555216730	->T	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555218898	->T	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555220625	C>A	Pathogenic-likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1555220638	A>C	Pathogenic	Intron variant
rs1555222073	C>T	Pathogenic	Intron variant
rs1555225566	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1565822519	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1592639588	C>G	Pathogenic	Splice donor variant, upstream transcript variant, genic upstream transcript variant
rs1592656929	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1592668925	G>C	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs1592671618	CA>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1592671672	CT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, genic upstream transcript variant
rs1592726020	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1592784618	T>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1592807018	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592808035	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592833648	TTTA>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1592836704	C>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT885854	hsa-miR-146a	CLIP-seq
MIRT885855	hsa-miR-146b-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IBA
GO:0005515	Function	Protein binding	IPI	16682973, 18694559, 18723859, 21565611, 21620453, 22441691, 22446187, 22797915, 22863007, 23446637, 23644468, 23943788, 24421332, 24550735, 24816561, 25416956, 25552655, 26638075, 28235840, 28514442, 32296183, 33961781, 36606424
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IDA	16682973
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	14654843
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	24648492
GO:0005813	Component	Centrosome	IDA	14654843, 16682973, 21399614, 24550735
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IDA	27623382
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA	16682973
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0015031	Process	Protein transport	IEA
GO:0015031	Process	Protein transport	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0030030	Process	Cell projection organization	IEA
GO:0030902	Process	Hindbrain development	ISS	16682973
GO:0030916	Process	Otic vesicle formation	ISS	16682973
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032391	Component	Photoreceptor connecting cilium	ISS	16682973
GO:0032991	Component	Protein-containing complex	IDA	24421332
GO:0034451	Component	Centriolar satellite	IBA
GO:0034451	Component	Centriolar satellite	IDA	22797915, 23943788
GO:0034451	Component	Centriolar satellite	IEA
GO:0035580	Component	Specific granule lumen	TAS
GO:0035869	Component	Ciliary transition zone	IBA
GO:0035869	Component	Ciliary transition zone	IDA	23943788, 36606424
GO:0036038	Component	MKS complex	ISS
GO:0036064	Component	Ciliary basal body	IEA
GO:0042462	Process	Eye photoreceptor cell development	ISS	16682973
GO:0042802	Function	Identical protein binding	IPI	18723859
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IBA
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	16682973
GO:0048793	Process	Pronephros development	ISS	16682973
GO:0051011	Function	Microtubule minus-end binding	IDA	16682973
GO:0060271	Process	Cilium assembly	IDA	26386044
GO:0060271	Process	Cilium assembly	ISS
GO:0070201	Process	Regulation of establishment of protein localization	IMP	24421332
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	22797915
GO:0097711	Process	Ciliary basal body-plasma membrane docking	IBA
GO:1905349	Process	Ciliary transition zone assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IBA

Other IDs

• MIM: 610142
• HGNC: 29021
• e!Ensembl: ENSG00000198707

Protein

• UniProt ID: O15078
• Protein name: Centrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin-6) (Tumor antigen se2-2)
• Protein function: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesis in the disappearance of centriolar satellit
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16574	CEP209_CC5	1289 → 1416	Coiled-coil region of centrosome protein CE290	Coiled-coil

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Expressed strongly in placenta and weakly in brain. {ECO:0000269|PubMed:11149944, ECO:0000269|PubMed:16682973}.
• Sequence:

  MPPNINWKEIMKVDPDDLPRQEELADNLLISLSKVEVNELKSEKQENVIHLFRITQSLMK
  MKAQEVELALEEVEKAGEEQAKFENQLKTKVMKLENELEMAQQSAGGRDTRFLRNEICQL
  EKQLEQKDRELEDMEKELEKEKKVNEQLALRNEEAENENSKLRRENKRLKKKNEQLCQDI
  IDYQKQIDSQKETLLSRRGEDSDYRSQLSKKNYELIQYLDEIQTLTEANEKIEVQNQEMR
  KNLEESVQEMEKMTDEYNRMKAIVHQTDNVIDQLKKENDHYQLQVQELTDLLKSKNEEDD
  PIMVAVNAKVEEWKLILSSKDDEIIEYQQMLHNLREKLKNAQLDADKSNVMALQQGIQER
  DSQIKMLTEQVEQYTKEMEKNTCIIEDLKNELQRNKGASTLSQQTHMKIQSTLDILKEKT
  KEAERTAELAEADAREKDKELVEALKRLKDYESGVYGLEDAVVEIKNCKNQIKIRDREIE
  ILTKEINKLELKISDFLDENEALRERVGLEPKTMIDLTEFRNSKHLKQQQYRAENQILLK
  EIESLEEERLDLKKKIRQMAQERGKRSATSGLTTEDLNLTENISQGDRISERKLDLLSLK
  NMSEAQSKNEFLSRELIEKERDLERSRTVIAKFQNKLKELVEENKQLEEGMKEILQAIKE
  MQKDPDVKGGETSLIIPSLERLVNAIESKNAEGIFDASLHLKAQVDQLTGRNEELRQELR
  ESRKEAINYSQQLAKANLKIDHLEKETSLLRQSEGSNVVFKGIDLPDGIAPSSASIINSQ
  NEYLIHLLQELENKEKKLKNLEDSLEDYNRKFAVIRHQQSLLYKEYLSEKETWKTESKTI
  KEEKRKLEDQVQQDAIKVKEYNNLLNALQMDSDEMKKILAENSRKITVLQVNEKSLIRQY
  TTLVELERQLRKENEKQKNELLSMEAEVCEKIGCLQRFKEMAIFKIAALQKVVDNSVSLS
  ELELANKQYNELTAKYRDILQKDNMLVQRTSNLEHLECENISLKEQVESINKELEITKEK
  LHTIEQAWEQETKLGNESSMDKAKKSITNSDIVSISKKITMLEMKELNERQRAEHCQKMY
  EHLRTSLKQMEERNFELETKFAELTKINLDAQKVEQMLRDELADSVSKAVSDADRQRILE
  LEKNEMELKVEVSKLREISDIARRQVEILNAQQQSRDKEVESLRMQLLDYQAQSDEKSLI
  AKLHQHNVSLQLSEATALGKLESITSKLQKMEAYNLRLEQKLDEKEQALYYARLEGRNRA
  KHLRQTIQSLRRQFSGALPLAQQEKFSKTMIQLQNDKLKIMQEMKNSQQEHRNMENKTLE
  MELKLKGLEELISTLKDTKGAQKVINWHMKIEELRLQELKLNRELVKDKEEIKYLNNIIS
  EYERTISSLEEEIVQQNKFHEERQMAWDQREVDLERQLDIFDRQQNEILNAAQKFEEATG
  SIPDPSLPLPNQLEIALRKIKENIRIILETRATCKSLEEKLKEKESALRLAEQNILSRDK
  VINELRLRLPATAEREKLIAELGRKEMEPKSHHTLKIAHQTIANMQARLNQKEEVLKKYQ
  RLLEKAREEQREIVKKHEEDLHILHHRLELQADSSLNKFKQTAWDLMKQSPTPVPTNKHF
  IRLAEMEQTVAEQDDSLSSLLVKLKKVSQDLERQREITELKVKEFENIKLQLQENHEDEV
  KKVKAEVEDLKYLLDQSQKESQCLKSELQAQKEANSRAPTTTMRNLVERLKSQLALKEKQ
  QKALSRALLELRAEMTAAAEERIISATSQKEAHLNVQQIVDRHTRELKTQVEDLNENLLK
  LKEALKTSKNRENSLTDNLNDLNNELQKKQKAYNKILREKEEIDQENDELKRQIKRLTSG
  LQGKPLTDNKQSLIEELQRKVKKLENQLEGKVEEVDLKPMKEKNAKEELIRWEEGKKWQA
  KIEGIRNKLKEKEGEVFTLTKQLNTLKDLFAKADKEKLTLQRKLKTTGMTVDQVLGIRAL
  ESEKELEELKKRNLDLENDILYMRAHQALPRDSVVEDLHLQNRYLQEKLHALEKQFSKDT
  YSKPSISGIESDDHCQREQELQKENLKLSSENIELKFQLEQANKDLPRLKNQVRDLKEMC
  EFLKKEKAEVQRKLGHVRGSGRSGKTIPELEKTIGLMKKVVEKVQRENEQLKKASGILTS
  EKMANIEQENEKLKAELEKLKAHLGHQLSMHYESKTKGTEKIIAENERLRKELKKETDAA
  EKLRIAKNNLEILNEKMTVQLEETGKRLQFAESRGPQLEGADSKSWKSIVVTRMYETKLK
  ELETDIAKKNQSITDLKQLVKEATEREQKVNKYNEDLEQQIKILKHVPEGAETEQGLKRE
  LQVLRLANHQLDKEKAELIHQIEANKDQSGAESTIPDADQLKEKIKDLETQLKMSDLEKQ
  HLKEEIKKLKKELENFDPSFFEEIEDLKYNYKEEVKKNILLEEKVKKLSEQLGVELTSPV
  AASEEFEDEEESPVNFPIY

• Sequence length: 2479

Pathways

Reactome:

Regulation of PLK1 Activity at G2/M Transition
Loss of Nlp from mitotic centrosomes
Recruitment of mitotic centrosome proteins and complexes
Loss of proteins required for interphase microtubule organization from the centrosome
Recruitment of NuMA to mitotic centrosomes
Anchoring of the basal body to the plasma membrane
Neutrophil degranulation
AURKA Activation by TPX2

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal facial shape	Likely pathogenic; Pathogenic	rs763762899	RCV001270057
Abnormality of prenatal development or birth	Likely pathogenic; Pathogenic	rs727503855, rs903257336	RCV001836753 RCV001814260
Abnormality of the nervous system	Likely pathogenic; Pathogenic	rs137852832, rs863225184	RCV001836688 RCV001814112
Bardet-Biedl syndrome	Likely pathogenic	rs797044604	RCV000192446
Bardet-Biedl syndrome 14	Likely pathogenic; Pathogenic	rs2038702746, rs1404507934, rs1196938557, rs2035880971, rs1007902545, rs62640580, rs62640570, rs62640581, rs62640582, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs775189201, rs767231715, rs2136725569, rs2136748724, rs767426153, rs2035400071, rs775969711, rs995093343, rs879447211, rs779645669, rs2036816455, rs758991387, rs2036977719, rs1223251937, rs2137720951, rs2038919221, rs2039204524, rs868650061, rs897997464, rs2138021345, rs764507012, rs1277316340, rs2039993548, rs752144368, rs1288619268, rs2137423759, rs2138086844, rs2136547710, rs1267970567, rs587779733, rs1478582091, rs1565827171, rs2137661795, rs763226787, rs1482471100, rs2136911405, rs1375836634, rs2138258171, rs2137150860, rs1219184437, rs2136964385, rs2033254449, rs992032116, rs935130451, rs1269182131, rs1468269366, rs2137276301, rs2036977924, rs1207944612, rs2137663442, rs760653238, rs1180594304, rs886042467, rs780954447, rs2035358840, rs746305733, rs773525033, rs2040498071, rs1017496924, rs1177923180, rs1440259390, rs1287628446, rs1304430926, rs2137182509, rs137852832, rs281865192, rs137852833, rs137852834, rs137852835, rs267606719, rs587783009, rs587783010, rs587783016, rs587783017, rs2137624440, rs727503853, rs2038340977, rs768065164, rs1027368517, rs2499838601, rs2499960522, rs2036817502, rs747239148, rs1475139450, rs766608755, rs2035399616, rs370119681, rs758329611, rs2500101115, rs2499860162, rs2501269442, rs2036111540, rs2500817276, rs2039902653, rs1346690922, rs1184012636, rs2499726960, rs2040047006, rs2499911272, rs2499974587, rs2500113822, rs1247861318, rs863225187, rs771454167, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225183, rs727503855, rs863225186, rs758550675, rs2499616926, rs2499472817, rs771864158, rs2500121878, rs878853362, rs747835249, rs371496675, rs878853360, rs878896889, rs2037480294, rs886039805, rs780225183, rs886042153, rs886042359, rs886042360, rs760915898, rs886043303, rs763345078, rs2500121943, rs1411950710, rs2499741182, rs2500111273, rs2500101737, rs2499340672, rs2499620387, rs369935020, rs2499908343, rs2499444300, rs2499620795, rs2499342693, rs758878983, rs2501464922, rs2499957266, rs2499618420, rs2500829215, rs2501271113, rs2499617680, rs2038668800, rs2037228556, rs2501271560, rs1231122388, rs1369768287, rs771939468, rs1420974027, rs2499368529, rs781670422, rs2500524863, rs1219855028, rs2499596186, rs1592676397, rs2039987359, rs2499742387, rs2500627365, rs2136547201, rs2499339388, rs2499339724, rs2501043847, rs758193337, rs2500112760, rs766095901, rs1159120623, rs2500746572, rs2500761561, rs2501043274, rs2500106420, rs757210438, rs2499855740, rs2500010183, rs2499597589, rs2500865783, rs2499745769, rs1340725042, rs2499568269, rs2499889148, rs2499343371, rs1345613057, rs1006843385, rs1237799214, rs2500120486, rs2499739840, rs2501049333, rs2499954741, rs1168542133, rs2501035965, rs1476248618, rs2499469346, rs868148490, rs2500108266, rs1397256061, rs2501038652, rs2499907349, rs2501503340, rs2500064528, rs2500817128, rs2500522460, rs2499469543, rs2500613493, rs2499913444, rs2499973191, rs1285349002, rs77818876, rs2481007195, rs2501502246, rs2500737638, rs2500681450, rs2499473051, rs1441877386, rs2500119265, rs758593134, rs2499368756, rs2499955544, rs2038915208, rs2501054131, rs2500744133, rs2500867184, rs2499443322, rs2500121621, rs1438792443, rs779409629, rs2499744612, rs2499744201, rs2501272074, rs2500742395, rs2500956116, rs2499957970, rs2499595696, rs2499955654, rs2501499274, rs2500956859, rs2500736926, rs2501504852, rs2499571369, rs2499368392, rs2499990885, rs2035898709, rs2501463457, rs2500631443, rs1223217246, rs1318951892, rs2499731886, rs2501475352, rs2501328740, rs1233939358, rs779865400, rs2501802132, rs770015278, rs766952056, rs1474521702, rs2499429479, rs2499368432, rs2501274238, rs2499857186, rs1201691161, rs2501098597, rs2499855165, rs2499888400, rs2499888150, rs2499742919, rs2500018615, rs2499617326, rs2499370043, rs2500933789, rs2500377103, rs2501054222, rs757641323, rs773386777, rs1057518822, rs1057519165, rs1060499781, rs763762899, rs777464278, rs1555220638, rs369523378, rs965522059, rs1555212271, rs1555220625, rs200818935, rs766670248, rs1272411609, rs1452465499, rs760540562, rs1555213204, rs1555197766, rs771266705, rs1170451277, rs1555225566, rs776645403, rs757609119, rs751361090, rs764309755, rs772170760, rs753884599, rs1565835538, rs1213286417, rs561598805, rs1592833648, rs1592726020, rs968692633, rs747138345, rs1294402003, rs778030031, rs754728136, rs749331348, rs1339975972, rs1468942944, rs760415289, rs1290241933, rs1302558061, rs386834148, rs386834149, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1039146791, rs1592671672, rs375548374, rs763473957, rs1592784618, rs45502896, rs1592807018, rs1221464366, rs773622064, rs781310385, rs2033943937, rs1364945778, rs761907569, rs1033594764, rs1186821575, rs770126103, rs2039659434, rs2033937635, rs748471942, rs762633090, rs774490795, rs752197734, rs2034232539, rs750073051, rs763559949, rs368984997, rs2033827549, rs555755221, rs1412133967, rs770175184, rs867094910, rs773642187, rs2036306894, rs2036833257, rs770474857, rs778407127, rs1437841365, rs769091629, rs766259648, rs2036318355, rs2040497202, rs2039897317, rs774410421, rs2034579709, rs2036824785	RCV001330036 RCV002504524 RCV005005228 RCV005005225 RCV003469638 RCV004566985 RCV003460787 RCV002498466 RCV003467012 RCV003467013 RCV003467014 RCV003467015 RCV002490750 RCV002505021 RCV002505022 RCV002488212 RCV002493927 RCV003469701 RCV003463031 RCV003469688 RCV003469669 RCV003469749 RCV005005922 RCV003469660 RCV003469699 RCV005005240 RCV002476720 RCV003469675 RCV003469693 RCV002499790 RCV003469694 RCV003469741 RCV003469695 RCV003469661 RCV003469736 RCV002504643 RCV003469719 RCV004570957 RCV002504651 RCV003469732 RCV003469718 RCV003469783 RCV001535856 RCV002495869 RCV004571096 RCV003470909 RCV002505025 RCV002503334 RCV003471009 RCV005002763 RCV002498073 RCV003471127 RCV005002712 RCV003471149 RCV005002714 RCV004796693 RCV002503494 RCV002503602 RCV003470973 RCV003471056 RCV002484803 RCV003471253 RCV004571748 RCV003471110 RCV003470978 RCV003471118 RCV005006312 RCV003471174 RCV004571578 RCV003471170 RCV005006155 RCV004571573 RCV003471165 RCV003471029 RCV005002725 RCV004571735 RCV002484413 RCV003471196 RCV003471033 RCV003470972 RCV005006145 RCV005006295 RCV000515339 RCV000763315 RCV003466777 RCV000763312 RCV002496228 RCV000001410 RCV002492522 RCV003467202 RCV003467203 RCV003467204 RCV004572105 RCV003467210 RCV004571174 RCV003465923 RCV003465924 RCV003465972 RCV003465978 RCV003465973 RCV003465974 RCV004572789 RCV003468856 RCV003466010 RCV003468864 RCV002478592 RCV005002846 RCV003465783 RCV003465803 RCV004571204 RCV004571200 RCV003465814 RCV003465832 RCV003464604 RCV003465837 RCV005002894 RCV003465849 RCV005002892 RCV004571420 RCV003465862 RCV003465871 RCV004567442 RCV000501294 RCV003468924 RCV000763310 RCV004567441 RCV000763311 RCV002485329 RCV003468921 RCV000763314 RCV003468918 RCV003468925 RCV003468920 RCV002500629 RCV003468917 RCV003468922 RCV002466465 RCV003465892 RCV003465904 RCV003459714 RCV004572641 RCV002478827 RCV003469117 RCV002500754 RCV003469116 RCV003466017 RCV003466019 RCV005003038 RCV004567813 RCV003463734 RCV002479997 RCV003469222 RCV003469223 RCV000763313 RCV002494853 RCV003466054 RCV004572932 RCV003460391 RCV003460392 RCV003460394 RCV003460395 RCV003466677 RCV003466678 RCV003466679 RCV003466680 RCV003466681 RCV003466682 RCV003466684 RCV003466685 RCV003466686 RCV003466687 RCV003466689 RCV003466690 RCV003466691 RCV003466692 RCV003466693 RCV003466694 RCV003466696 RCV003466697 RCV003466698 RCV003466699 RCV003466700 RCV003466701 RCV003466702 RCV003466703 RCV003466705 RCV003466706 RCV003466707 RCV003466708 RCV003466709 RCV003466710 RCV003466711 RCV003466712 RCV003466713 RCV003466714 RCV003466715 RCV003466716 RCV003466717 RCV003466718 RCV003466719 RCV003466720 RCV003466721 RCV003466722 RCV003466723 RCV003466724 RCV003466725 RCV003466726 RCV003466727 RCV003466728 RCV003466729 RCV003466730 RCV003466731 RCV003466732 RCV003466733 RCV003466734 RCV003466735 RCV003466736 RCV003466737 RCV003466738 RCV003466739 RCV003466740 RCV003466741 RCV003466742 RCV003466743 RCV003466744 RCV003466745 RCV003466746 RCV003466747 RCV003466748 RCV003466749 RCV003466750 RCV003466751 RCV003466752 RCV003466753 RCV003466754 RCV003466755 RCV003466756 RCV003466757 RCV003466758 RCV003466759 RCV003466760 RCV003466761 RCV003466762 RCV003466763 RCV003466764 RCV003466765 RCV003466766 RCV003466767 RCV003466768 RCV003468365 RCV004573319 RCV004573320 RCV005003707 RCV004796843 RCV005003719 RCV005013197 RCV004573323 RCV005013192 RCV005013194 RCV005003718 RCV004573330 RCV005003716 RCV004573329 RCV005013196 RCV004573326 RCV005003721 RCV004575569 RCV004575571 RCV004575572 RCV004575573 RCV004575574 RCV004575575 RCV004575576 RCV004575577 RCV004575578 RCV004575579 RCV004575580 RCV004575581 RCV004575582 RCV004575583 RCV004575584 RCV004575585 RCV004575586 RCV004575587 RCV004575588 RCV004575589 RCV004575590 RCV004575591 RCV004575592 RCV004575593 RCV004575594 RCV004575595 RCV004575597 RCV004575598 RCV004575599 RCV004575601 RCV004575602 RCV004575604 RCV004575605 RCV004575606 RCV004575608 RCV004575609 RCV004575610 RCV004575611 RCV004575612 RCV004575613 RCV004575614 RCV003463818 RCV003470370 RCV003470364 RCV003470373 RCV003470389 RCV003470523 RCV003470556 RCV003470596 RCV001535842 RCV001536096 RCV000763318 RCV003470654 RCV002497033 RCV003470653 RCV002491001 RCV002497107 RCV003459415 RCV002483577 RCV002491180 RCV002506412 RCV003465351 RCV003465350 RCV000625900 RCV000763316 RCV002483763 RCV000763317 RCV003465397 RCV003465425 RCV002485669 RCV002499260 RCV002493254 RCV003465653 RCV002507328 RCV003467316 RCV002477791 RCV003467319 RCV002493435 RCV002487837 RCV004569639 RCV003467447 RCV002495153 RCV003467523 RCV003467385 RCV003467498 RCV003467520 RCV002487758 RCV001542774 RCV005004455 RCV002508920 RCV003466922 RCV002504949 RCV003466923 RCV002504950 RCV002483068 RCV003460647 RCV002483069 RCV003467551 RCV000991447 RCV003467556 RCV004569838 RCV003467562 RCV002479201 RCV001535995 RCV003467582 RCV002481816 RCV002479228 RCV002505632 RCV002497410 RCV002497383 RCV005012517 RCV002505627 RCV003467735 RCV003467719 RCV003467750 RCV002497434 RCV001814265 RCV003469275 RCV003469274 RCV003469278 RCV003469277 RCV003469270 RCV003469280 RCV003469281 RCV003469282 RCV002482162 RCV003469312 RCV003469311 RCV003469314 RCV002283532 RCV003469395 RCV004570424 RCV002504305 RCV003469425 RCV003469400 RCV003469433 RCV003469397 RCV002504334 RCV004570580 RCV003469413 RCV003469416 RCV003469467 RCV003469474 RCV003469472 RCV003469412 RCV004570649 RCV005012702 RCV003469489
Blindness	Pathogenic; Likely pathogenic	rs137852834, rs376493409, rs886043303, rs1057518822	RCV000415219 RCV000414892 RCV000415286 RCV000415004
Central hypotonia	Pathogenic; Likely pathogenic	rs137852834, rs1057518822	RCV000415120 RCV000414899
CEP290-related ciliopathy	Likely pathogenic; Pathogenic	rs62638179, rs281865187, rs281865188, rs775969711, rs879447211, rs1417251616, rs137852834, rs758550675, rs2499472817, rs771266705, rs764309755, rs1592833648, rs587783017, rs1290241933, rs386834148, rs386834153, rs778907433, rs747138345, rs1364945778, rs2039659434, rs2033827549	RCV004593991 RCV005632241 RCV005632242 RCV005635129 RCV005635150 RCV005635142 RCV003492281 RCV005632313 RCV003250703 RCV005632533 RCV002470956 RCV002535732 RCV005633728 RCV005633729 RCV003492395 RCV005632219 RCV005633811 RCV005633860 RCV005633856 RCV005633863 RCV002267632
CEP290-related disorder	Likely pathogenic; Pathogenic	rs1404507934, rs62640570, rs62640574, rs62638179, rs281865187, rs62638180, rs767231715, rs779645669, rs1417251616, rs758991387, rs1223251937, rs2137720951, rs1288619268, rs2138086844, rs1478582091, rs763226787, rs2136637204, rs760653238, rs780954447, rs137852832, rs281865192, rs137852834, rs137852835, rs587783009, rs587783010, rs587783017, rs2137056192, rs2137624440, rs2037480406, rs1027368517, rs1014354752, rs2036817502, rs766285443, rs758329611, rs2499860162, rs575767207, rs376493409, rs780624853, rs539400286, rs727503855, rs758550675, rs771864158, rs747835249, rs371496675, rs878896889, rs2037480294, rs2499745673, rs886042153, rs886042360, rs760915898, rs2500865783, rs2501035965, rs779409629, rs763762899, rs777464278, rs369523378, rs781670422, rs965522059, rs760540562, rs1170451277, rs776645403, rs764309755, rs1157238971, rs1294402003, rs778030031, rs760415289, rs1290241933, rs386834148, rs386834152, rs386834157, rs386834158, rs386834159, rs375548374, rs747138345, rs2033254449, rs781310385, rs1364945778, rs770126103, rs748471942, rs368984997, rs1412133967, rs773642187, rs778407127, rs2036824785	RCV004531121 RCV003315227 RCV004542803 RCV000263885 RCV004732680 RCV004529903 RCV003479322 RCV004733280 RCV004531195 RCV004733281 RCV002307739 RCV004531198 RCV001420743 RCV004782757 RCV001825112 RCV003226528 RCV004536360 RCV004728918 RCV004733404 RCV003147273 RCV001731267 RCV003155008 RCV004732519 RCV003387770 RCV003230417 RCV002271421 RCV002223093 RCV002266544 RCV002308521 RCV004733560 RCV004536624 RCV004733588 RCV002510356 RCV004537473 RCV004733513 RCV004732784 RCV004732783 RCV004528989 RCV004732782 RCV004732780 RCV001731520 RCV004732781 RCV004733557 RCV004732803 RCV004532829 RCV003123526 RCV003226856 RCV003228862 RCV002222465 RCV004732816 RCV000779117 RCV004733620 RCV004723330 RCV004733652 RCV004541517 RCV004527588 RCV002222534 RCV004535629 RCV004732914 RCV002282253 RCV000779118 RCV004732982 RCV001420744 RCV000778381 RCV004733049 RCV003315254 RCV004733054 RCV004733051 RCV004733052 RCV002271393 RCV004732641 RCV000779119 RCV003147336 RCV004732642 RCV004536027 RCV002307671 RCV004733128 RCV004536082 RCV004733137 RCV003228800 RCV004733151 RCV004536141 RCV005866870 RCV004545135 RCV002271632 RCV003120515
COG7 congenital disorder of glycosylation	Likely pathogenic; Pathogenic	rs137852832	RCV001815157
Cone-rod dystrophy	Pathogenic	rs886042153	RCV000787815
Cystic renal dysplasia	Pathogenic; Likely pathogenic	rs376493409, rs1555202126	RCV000626966 RCV000626967
Encephalocele	Pathogenic	rs137852835, rs774410421	RCV001257362 RCV001257363
Familial cancer of breast	Likely pathogenic; Pathogenic	rs369523378	RCV005899811
Global developmental delay	Pathogenic; Likely pathogenic	rs376493409, rs886043303, rs763762899	RCV000414892 RCV000415286 RCV001270057
Hypotonia	Likely pathogenic; Pathogenic	rs763762899	RCV001270057
Intellectual disability	Likely pathogenic; Pathogenic	rs281865192, rs2035114607	RCV001255341 RCV001255342
Joubert syndrome	Likely pathogenic; Pathogenic	rs2038702746, rs774705706, rs1404507934, rs1196938557, rs2136958216, rs2035880971, rs1007902545, rs2138025029, rs2138082472, rs62640580, rs62640570, rs62640581, rs62640582, rs62640572, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs2136546348, rs775189201, rs767231715, rs1414041522, rs2136724878, rs2136725569, rs2136748724, rs2136751258, rs2136911634, rs767426153, rs2035400071, rs2136964738, rs2137080156, rs775969711, rs1367899236, rs995093343, rs879447211, rs751807811, rs779645669, rs2036717675, rs2137269723, rs2036816455, rs1417251616, rs1565846034, rs758991387, rs2137301783, rs2036977719, rs2137344539, rs2137345150, rs2037226237, rs2037477197, rs1223251937, rs2137624524, rs2137711696, rs2137720951, rs2038919221, rs2039204524, rs2137903965, rs868650061, rs897997464, rs2138000998, rs2138021345, rs764507012, rs2138083048, rs1277316340, rs2039993548, rs2138215835, rs752144368, rs2138297703, rs1288619268, rs2138086844, rs1267970567, rs1177923180, rs587779733, rs1478582091, rs2037478393, rs2136964542, rs1565827171, rs2136547054, rs62640579, rs2136704614, rs2137661795, rs2137917114, rs763226787, rs2137183334, rs2137101209, rs2136656497, rs1482471100, rs2136911405, rs2137836218, rs1375836634, rs2138258171, rs2137279498, rs2137150860, rs2137368561, rs1219184437, rs2137151163, rs2136964385, rs2033254449, rs768864797, rs992032116, rs935130451, rs2138259162, rs2138215714, rs2138259100, rs1269182131, rs1339320666, rs2038335853, rs1468269366, rs2137276301, rs2136728464, rs1592574519, rs2136814350, rs2036977924, rs2136966486, rs1207944612, rs2138023519, rs1361189290, rs2136910908, rs750520052, rs2137219551, rs2138093868, rs2137425453, rs2137248487, rs2138086329, rs2138258864, rs2137342973, rs1234975160, rs2137707354, rs1057519165, rs2137665576, rs2137170285, rs2035393800, rs2039897317, rs2137663442, rs2138021203, rs2136637204, rs760653238, rs2138093974, rs1180594304, rs2137103699, rs2137614623, rs886042467, rs281865190, rs780954447, rs2035358840, rs2137167420, rs746305733, rs773525033, rs2137156392, rs1166981120, rs2138257533, rs2137050478, rs2040498071, rs2137251821, rs1017496924, rs1450189463, rs2137152484, rs2137247685, rs2039957886, rs867904492, rs1440259390, rs1287628446, rs2137868361, rs1304430926, rs2039985700, rs2138085855, rs2137277291, rs2137182509, rs2137365958, rs2036830890, rs2137779120, rs137852832, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs587783009, rs587783016, rs587783017, rs2137056192, rs2137624440, rs2136546576, rs727503853, rs727503855, rs768065164, rs1382701532, rs1027368517, rs1292246271, rs1592668925, rs765483163, rs764309755, rs2499617642, rs1014354752, rs2499838601, rs2499853126, rs2500759351, rs2499960522, rs2036817502, rs747239148, rs1475139450, rs766608755, rs2501090110, rs1231036283, rs2039902653, rs2035399616, rs370119681, rs758329611, rs2500101115, rs2501849042, rs2499860162, rs2039989513, rs2036712105, rs2501093691, rs767250881, rs2501269442, rs773390201, rs2036111540, rs2500817276, rs746413821, rs2500865968, rs780896294, rs2501035387, rs1346690922, rs2499858442, rs2499731924, rs751223288, rs2501544530, rs1565821736, rs2500763272, rs2500065308, rs1184012636, rs2499726960, rs2035884532, rs2500156012, rs2500066079, rs2499570339, rs2499910412, rs2499571894, rs2499910206, rs1592671313, rs2501497769, rs1306782857, rs2500228774, rs2040047006, rs2499911272, rs2499974587, rs2501466847, rs2499959456, rs2500060832, rs2499957344, rs2499961754, rs2499339598, rs1308598847, rs2037480406, rs2500113822, rs2501852178, rs1247861318, rs2500628432, rs863224523, rs2500523689, rs771454167, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225184, rs863225183, rs863225186, rs863225185, rs758550675, rs2501476639, rs2499616926, rs2500616179, rs2500935910, rs2499527666, rs367676646, rs2500620311, rs2499472817, rs908238464, rs2501468319, rs2500060132, rs2499740973, rs2501800454, rs769091629, rs771864158, rs2034243912, rs2499619686, rs2500121878, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878896889, rs780225183, rs886042153, rs886042359, rs886042360, rs760915898, rs886043303, rs886044332, rs2500121943, rs1411950710, rs1231122388, rs771939468, rs1420974027, rs2500524863, rs2039987359, rs766095901, rs1159120623, rs1345613057, rs1237799214, rs1168542133, rs868148490, rs2501503340, rs2500613493, rs1285349002, rs1441877386, rs1381090737, rs2500269301, rs2501502939, rs2499911513, rs2499961991, rs2499470143, rs2500271417, rs2500618622, rs2500627820, rs868347260, rs2499958555, rs2501040632, rs2499955544, rs2038915208, rs2501054131, rs2500744133, rs2500866434, rs2036106218, rs1475658217, rs1158268529, rs2499619599, rs2499988736, rs1592550848, rs2501333823, rs2499958316, rs2500866580, rs2499843752, rs2499844187, rs868858346, rs2499991573, rs1325063481, rs2500814936, rs2499572404, rs2500867184, rs2500683218, rs2499443322, rs2137662565, rs2500121621, rs1438792443, rs2499445099, rs2499907395, rs779409629, rs2499676199, rs2499860456, rs2500612408, rs1555217024, rs2499744612, rs1225676118, rs2500112677, rs2500628699, rs2500627262, rs1337146202, rs2501098066, rs2500108418, rs2501862857, rs2500009261, rs2499744201, rs2501542597, rs2501272074, rs1366385653, rs2500866381, rs2500813056, rs2499741922, rs1565835538, rs2499620281, rs373341530, rs2499956762, rs2500615773, rs2499914261, rs2500829029, rs2500111542, rs2500742395, rs2499859881, rs2500011110, rs1440468666, rs2500065047, rs2499972252, rs2499426087, rs2500060504, rs2500096910, rs2500117363, rs2499856690, rs2499444567, rs2499989379, rs2500813302, rs2499370007, rs1555216730, rs2501278271, rs2500619029, rs2501474958, rs886038694, rs2499445529, rs2500270196, rs2500613030, rs2500019381, rs2499446500, rs2499741312, rs2501462993, rs757641323, rs773386777, rs1057518822, rs1060499781, rs763762899, rs777464278, rs766952056, rs369523378, rs781670422, rs965522059, rs1555212271, rs1555220625, rs200818935, rs766670248, rs1555201796, rs1555205328, rs1278679056, rs758593134, rs1272411609, rs1452465499, rs1369768287, rs760540562, rs780805963, rs1555213204, rs771266705, rs1170451277, rs1555225566, rs1192112844, rs1555212150, rs776645403, rs757609119, rs751361090, rs1565822519, rs772170760, rs753884599, rs1203763812, rs1213286417, rs1157238971, rs561598805, rs1465414886, rs968692633, rs747138345, rs1294402003, rs778030031, rs754728136, rs749331348, rs1592808035, rs1459653241, rs1339975972, rs1468942944, rs760415289, rs1592656929, rs1290241933, rs1592706963, rs1302558061, rs386834148, rs386834149, rs386834151, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1039146791, rs1592671672, rs375548374, rs1592784618, rs45502896, rs1592807018, rs1221464366, rs773622064, rs778907433, rs781310385, rs2033943937, rs2034330893, rs1364945778, rs2035124136, rs2035367210, rs761907569, rs372640024, rs2036971853, rs903257336, rs1033594764, rs1186821575, rs770126103, rs2040644607, rs2036722229, rs2037150824, rs764551108, rs2039659434, rs1219277452, rs2033937635, rs748471942, rs762633090, rs774490795, rs752197734, rs2034232539, rs750073051, rs763559949, rs368984997, rs2040644756, rs2033827549, rs555755221, rs1412133967, rs770175184, rs2039321844, rs2039364798, rs2036372197, rs2036974151, rs867094910, rs2040373653, rs759850328, rs773642187, rs2036306894, rs2036833257, rs2036975289, rs770474857, rs778407127, rs1437841365, rs1489175048, rs2034235109, rs766259648, rs2036318355, rs2040497202, rs2034579427, rs951979448, rs774410421, rs2036824785, rs1292516576	RCV001863212 RCV001387506 RCV001390586 RCV001378757 RCV001377335 RCV001377792 RCV001379336 RCV001378660 RCV001377745 RCV001230884 RCV000695282 RCV001216498 RCV002513927 RCV002514528 RCV001385691 RCV000637002 RCV001235817 RCV001222718 RCV000803171 RCV001385881 RCV001390390 RCV001384498 RCV001390143 RCV001383766 RCV001389629 RCV001390986 RCV001383212 RCV001383071 RCV001382003 RCV001382358 RCV001386457 RCV001388961 RCV001387873 RCV001380171 RCV001380302 RCV001381482 RCV001384921 RCV001383666 RCV001387807 RCV001388146 RCV001381486 RCV001390861 RCV001385920 RCV001382323 RCV001385692 RCV001390644 RCV001383378 RCV001385028 RCV001381411 RCV001388128 RCV001383617 RCV001383419 RCV001382107 RCV001383422 RCV001384677 RCV001382457 RCV001388413 RCV001383423 RCV001381567 RCV001380679 RCV001387802 RCV001384499 RCV001389479 RCV001386120 RCV001385880 RCV001381898 RCV001388835 RCV001387371 RCV001384356 RCV001386072 RCV001389191 RCV003771340 RCV001882615 RCV002544259 RCV002034581 RCV001390147 RCV002545200 RCV001917076 RCV001919336 RCV001900889 RCV001997322 RCV001997345 RCV001962676 RCV002015044 RCV001902894 RCV002027685 RCV001925546 RCV001904249 RCV001945145 RCV002037623 RCV001999874 RCV001999893 RCV001941643 RCV001960553 RCV001960558 RCV001960598 RCV001863864 RCV001884185 RCV001936039 RCV001946707 RCV001937369 RCV001954522 RCV001953867 RCV001953901 RCV002017506 RCV002017305 RCV001961872 RCV001932417 RCV001949664 RCV001958976 RCV001896199 RCV002004700 RCV001874682 RCV001920048 RCV002004621 RCV001894546 RCV002035322 RCV002006928 RCV002037868 RCV002000202 RCV002000210 RCV001994798 RCV001993167 RCV001993174 RCV001899355 RCV001915004 RCV001994696 RCV002035419 RCV001993385 RCV001896630 RCV001942182 RCV001942017 RCV001994352 RCV001934332 RCV001929413 RCV002002548 RCV001939333 RCV002016508 RCV001951196 RCV002020667 RCV002030172 RCV001913188 RCV001936519 RCV001951020 RCV001951033 RCV001951136 RCV001905654 RCV001991357 RCV001911592 RCV001942295 RCV001995863 RCV001898905 RCV001956388 RCV001956092 RCV001972739 RCV001956181 RCV001969840 RCV001972545 RCV001953690 RCV001906575 RCV001982050 RCV001963182 RCV002006563 RCV001892078 RCV001981996 RCV001982911 RCV001906982 RCV001934910 RCV002042104 RCV001895307 RCV001987251 RCV001929705 RCV001914219 RCV001979757 RCV001909306 RCV001984704 RCV001984090 RCV001980914 RCV000531295 RCV001851540 RCV000558460 RCV001851541 RCV001046610 RCV001042869 RCV001384909 RCV001385693 RCV000457302 RCV003089158 RCV003774847 RCV003101543 RCV001230296 RCV003764937 RCV003062529 RCV003058389 RCV003041165 RCV003041166 RCV003051065 RCV003765074 RCV003061590 RCV003082940 RCV002588063 RCV002585497 RCV002591603 RCV002602816 RCV002627918 RCV002595479 RCV002588610 RCV002591896 RCV001220534 RCV002623601 RCV002612526 RCV003106392 RCV003121531 RCV001036300 RCV001244941 RCV002571879 RCV002575491 RCV002572250 RCV002577501 RCV002630561 RCV002587488 RCV002635355 RCV002635356 RCV002618037 RCV002654234 RCV002640094 RCV002663540 RCV002694938 RCV002736604 RCV002790672 RCV002741910 RCV002770628 RCV002770659 RCV002814606 RCV002807051 RCV002824443 RCV002824462 RCV002801954 RCV002819910 RCV002815556 RCV002801728 RCV002819748 RCV002802230 RCV002846596 RCV002856805 RCV002856901 RCV002842017 RCV002862014 RCV002816434 RCV002829407 RCV002857633 RCV002889123 RCV002880883 RCV002857203 RCV002862935 RCV002863653 RCV002898624 RCV002881247 RCV002852113 RCV002867991 RCV002895740 RCV002912902 RCV002872587 RCV002912647 RCV002885198 RCV002899432 RCV002894942 RCV002938149 RCV002952940 RCV000196701 RCV002976183 RCV001224012 RCV001382359 RCV001058542 RCV000457599 RCV000806654 RCV001036850 RCV000795962 RCV000816913 RCV002517311 RCV001383861 RCV001383421 RCV000686453 RCV000697843 RCV001236913 RCV001044809 RCV002519580 RCV001243311 RCV003015512 RCV003010340 RCV003016859 RCV003018225 RCV003021281 RCV003009980 RCV003033927 RCV003043024 RCV003037722 RCV003029037 RCV003023897 RCV003053791 RCV003055318 RCV003056987 RCV003055543 RCV003039923 RCV003047590 RCV003059556 RCV001383420 RCV000692104 RCV001389936 RCV001223284 RCV001854802 RCV003778673 RCV000636991 RCV001380938 RCV001859558 RCV001384490 RCV000473837 RCV000636995 RCV001859707 RCV003777371 RCV003779151 RCV003779152 RCV005220723 RCV003779153 RCV003779154 RCV005216119 RCV005216120 RCV003779155 RCV005216121 RCV003779156 RCV003779157 RCV003779158 RCV003779159 RCV005216122 RCV003779160 RCV003779161 RCV003785547 RCV003782818 RCV003782910 RCV003785277 RCV003783194 RCV003783591 RCV003783592 RCV003783593 RCV003783594 RCV003783595 RCV003790581 RCV003793185 RCV003793188 RCV003793380 RCV003779392 RCV003780009 RCV003782654 RCV003787549 RCV003787889 RCV003788028 RCV003788445 RCV003787286 RCV003785026 RCV003792448 RCV003807799 RCV003807912 RCV003807914 RCV003807915 RCV003808005 RCV003808159 RCV003806084 RCV003808275 RCV003808316 RCV003808387 RCV003808415 RCV003804430 RCV003806894 RCV003791105 RCV003791552 RCV003791609 RCV003805604 RCV003807722 RCV003803459 RCV003805799 RCV003805876 RCV003805944 RCV003803713 RCV003803920 RCV003801538 RCV003804165 RCV003804201 RCV003804252 RCV003804333 RCV003798925 RCV003799241 RCV003799416 RCV003802842 RCV003805301 RCV003803606 RCV003809133 RCV003809160 RCV003801218 RCV003796840 RCV003796931 RCV003800327 RCV003800448 RCV003808557 RCV003808673 RCV003800729 RCV003808696 RCV003808918 RCV003808930 RCV003807043 RCV003804787 RCV003801790 RCV003802027 RCV003802108 RCV003802364 RCV003802393 RCV003817703 RCV003818003 RCV003801618 RCV003801663 RCV003801701 RCV003801743 RCV003809768 RCV003810030 RCV003815297 RCV003815557 RCV003807447 RCV003807580 RCV003810554 RCV003812742 RCV003812795 RCV003812820 RCV003812836 RCV003812839 RCV003807222 RCV003807247 RCV003805167 RCV003805185 RCV003812254 RCV003810213 RCV003810218 RCV003810220 RCV003810349 RCV000552078 RCV003766166 RCV003766165 RCV001209427 RCV000813873 RCV001238421 RCV001060437 RCV001070331 RCV000687629 RCV001203973 RCV000636990 RCV001857990 RCV001058827 RCV001378303 RCV000555880 RCV000546047 RCV000525824 RCV000540957 RCV000542843 RCV002530367 RCV001381364 RCV001056739 RCV000636987 RCV002531013 RCV002532698 RCV001041101 RCV000814304 RCV000704380 RCV000636997 RCV000636994 RCV000636983 RCV000636996 RCV001208507 RCV000705120 RCV000694088 RCV000701688 RCV001868322 RCV001211577 RCV000817988 RCV002535633 RCV001207057 RCV001383424 RCV001244155 RCV000821112 RCV000806946 RCV000810929 RCV000815985 RCV000824248 RCV000801430 RCV000793218 RCV000796936 RCV000820623 RCV000823686 RCV000810414 RCV000791790 RCV000810939 RCV000823106 RCV000824247 RCV001235658 RCV000200294 RCV001853067 RCV000685655 RCV001053674 RCV001853068 RCV000702996 RCV000815718 RCV001212861 RCV001869357 RCV001389258 RCV001386103 RCV001860525 RCV001860572 RCV001860589 RCV001384273 RCV001388565 RCV001380322 RCV001231786 RCV001062455 RCV001052782 RCV001045374 RCV001063917 RCV001053194 RCV001060340 RCV001049397 RCV001068093 RCV001044834 RCV001045344 RCV001036503 RCV001046023 RCV001039641 RCV001047416 RCV001058714 RCV001058761 RCV001041071 RCV001054904 RCV001035038 RCV001063723 RCV001061596 RCV003768995 RCV001234472 RCV001243657 RCV001862596 RCV003768988 RCV001862612 RCV003769016 RCV002554821 RCV002555950 RCV001862693 RCV002555951 RCV001380942 RCV001863097 RCV001211579 RCV001222226 RCV001224982 RCV001214318 RCV001216487 RCV001203000 RCV001204615 RCV001203138 RCV001202458 RCV001211207 RCV001229340 RCV001233471 RCV001227714 RCV001235735 RCV001232419 RCV001226858 RCV001225724 RCV001237935 RCV001232256 RCV001230980 RCV001228504 RCV001231549 RCV001244300 RCV001244154 RCV001246193 RCV001245425 RCV001238408 RCV001230885 RCV001237836 RCV001382992 RCV001390760 RCV002541764
Joubert syndrome 1	Likely pathogenic; Pathogenic	rs281865192, rs727503855, rs886042153, rs778030031, rs1039146791, rs1592836704, rs1592639588, rs1592668925, rs1434632102	RCV000988884 RCV000988888 RCV000988887 RCV000988885 RCV000988881 RCV000988880 RCV000988882 RCV000988889 RCV000988891 RCV000988893
Joubert syndrome 5	Likely pathogenic; Pathogenic	rs1404507934, rs1196938557, rs2035880971, rs62640570, rs62640581, rs62640572, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs767231715, rs767426153, rs2035400071, rs775969711, rs879447211, rs779645669, rs758991387, rs2036977719, rs2137720951, rs868650061, rs897997464, rs2138021345, rs1277316340, rs2137423759, rs2138086844, rs2137917381, rs2137710225, rs587779733, rs1478582091, rs2137661795, rs763226787, rs2136911405, rs2138258171, rs2137150860, rs1219184437, rs992032116, rs935130451, rs2138259100, rs1207944612, rs886042467, rs780954447, rs773525033, rs1017496924, rs1304430926, rs2137182509, rs137852832, rs62635288, rs281865192, rs137852834, rs137852835, rs267606719, rs587783009, rs587783016, rs587783017, rs2136546576, rs727503853, rs768065164, rs1027368517, rs2499838601, rs2499960522, rs766285443, rs370119681, rs758329611, rs2500101115, rs2040047006, rs2499974587, rs797044604, rs863225187, rs771454167, rs779262951, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225184, rs863225183, rs727503855, rs863225186, rs863225185, rs758550675, rs863225188, rs878853362, rs747835249, rs371496675, rs878853360, rs2037480294, rs780225183, rs886042153, rs886042359, rs760915898, rs886043303, rs758878983, rs2499957266, rs2500112760, rs1345613057, rs1168542133, rs2038915208, rs2501054131, rs2500744133, rs2500867184, rs2500121621, rs1438792443, rs779409629, rs1184012636, rs2499744201, rs2500742395, rs2499571369, rs757641323, rs1057518822, rs1057519165, rs1060499781, rs763762899, rs777464278, rs369523378, rs781670422, rs1555218898, rs965522059, rs1555208870, rs1555220625, rs766670248, rs758593134, rs1452465499, rs1369768287, rs760540562, rs771266705, rs1170451277, rs1555225566, rs776645403, rs757609119, rs751361090, rs1565822519, rs764309755, rs772170760, rs753884599, rs1213286417, rs561598805, rs1592833648, rs1465414886, rs968692633, rs747138345, rs1294402003, rs778030031, rs749331348, rs1339975972, rs760415289, rs1290241933, rs1302558061, rs386834148, rs386834149, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1592671672, rs375548374, rs1592784618, rs45502896, rs1592807018, rs1221464366, rs773622064, rs2033254449, rs781310385, rs2033943937, rs1364945778, rs761907569, rs1033594764, rs770126103, rs2039659434, rs752197734, rs2034232539, rs750073051, rs368984997, rs2033827549, rs555755221, rs770175184, rs773642187, rs2036318355, rs2036720274, rs2035114607, rs774410421, rs1292516576, rs2034579709, rs2036824785	RCV002504524 RCV005005228 RCV005005225 RCV000201666 RCV001199210 RCV002221147 RCV005008008 RCV005008009 RCV005003468 RCV002490750 RCV002505021 RCV002505022 RCV002488212 RCV002493927 RCV005005242 RCV005005926 RCV005005922 RCV005005914 RCV005005240 RCV002476720 RCV002508962 RCV002499790 RCV005005925 RCV005005239 RCV002504643 RCV005005236 RCV002504651 RCV001535856 RCV002495869 RCV001580656 RCV001724761 RCV002505025 RCV002503334 RCV005002763 RCV002498073 RCV005002712 RCV005002714 RCV004796693 RCV002503494 RCV002503602 RCV002484803 RCV002507780 RCV005361778 RCV005006312 RCV005006155 RCV005006189 RCV005002725 RCV002484413 RCV005006145 RCV005006295 RCV000001396 RCV000001398 RCV000763315 RCV000001402 RCV002496228 RCV000201631 RCV002492522 RCV000201586 RCV002483278 RCV002272835 RCV000201601 RCV005010896 RCV005002928 RCV005011021 RCV005002962 RCV004796738 RCV005003531 RCV002478592 RCV005002846 RCV005002894 RCV005002892 RCV000192446 RCV000201753 RCV000201679 RCV000201548 RCV000201627 RCV000201766 RCV000201538 RCV000201672 RCV000201597 RCV000201704 RCV000201563 RCV000201700 RCV000201682 RCV000201524 RCV000201612 RCV000201771 RCV000201724 RCV000201746 RCV000201653 RCV000201609 RCV000201578 RCV002478827 RCV002503881 RCV002500754 RCV005003571 RCV005003038 RCV001199213 RCV002479997 RCV005008234 RCV000763313 RCV002494853 RCV005012981 RCV005012982 RCV005003647 RCV005254806 RCV005003648 RCV005003714 RCV005003707 RCV004796843 RCV005003719 RCV005013197 RCV005013192 RCV005013194 RCV005003718 RCV005003716 RCV005013196 RCV005003721 RCV005006443 RCV005010313 RCV001199375 RCV005004149 RCV000454358 RCV005004179 RCV001335139 RCV001535842 RCV001536096 RCV000505547 RCV000763318 RCV000518898 RCV002497033 RCV002491001 RCV002497107 RCV002483577 RCV002491180 RCV002506412 RCV005004279 RCV000763316 RCV002483763 RCV000763317 RCV005010615 RCV005010638 RCV003999761 RCV002485669 RCV002499260 RCV000710064 RCV001814230 RCV000785894 RCV000785965 RCV000785903 RCV002493435 RCV002487837 RCV005012338 RCV001281171 RCV002495153 RCV005012330 RCV005004450 RCV002487758 RCV005004443 RCV005004455 RCV000201718 RCV005003445 RCV000201755 RCV004760362 RCV002504950 RCV000416432 RCV001198221 RCV002483069 RCV000991447 RCV005012429 RCV004004474 RCV002479201 RCV001535995 RCV001330037 RCV002481816 RCV002479228 RCV002505632 RCV002497410 RCV002497383 RCV005012517 RCV002505627 RCV001196763 RCV005012467 RCV002497434 RCV001814265 RCV005253708 RCV005012543 RCV005012544 RCV002482162 RCV001196522 RCV001195862 RCV001198220 RCV005012637 RCV001580574 RCV002504334 RCV005012679 RCV001281170 RCV001262195 RCV005012700 RCV001261602 RCV005012702 RCV004796396 RCV001283851
Joubert syndrome and related disorders	Pathogenic	rs886039808	RCV000256429
Kidney disorder	Pathogenic	rs760540562	RCV002294351
Leber congenital amaurosis	Pathogenic; Likely pathogenic	rs62640580, rs62640570, rs62640581, rs62640574, rs62638179, rs281865187, rs62638180, rs1374014119, rs779645669, rs2137182509, rs137852832, rs62635288, rs281865192, rs137852834, rs137852835, rs587783016, rs587783017, rs766608755, rs370119681, rs758329611, rs2499911272, rs771454167, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225189, rs727503855, rs758550675, rs878853362, rs747835249, rs371496675, rs878853360, rs780225183, rs886042360, rs760915898, rs2501710854, rs2499744201, rs777464278, rs1555220638, rs1555222073, rs369523378, rs781670422, rs766670248, rs758593134, rs1369768287, rs771266705, rs1192112844, rs776645403, rs757609119, rs764309755, rs772170760, rs1592726020, rs968692633, rs747138345, rs749331348, rs1468942944, rs760415289, rs1290241933, rs386834148, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1592784618, rs2040637111, rs1592807018, rs1033594764, rs1186821575, rs770126103, rs2039659434, rs762633090, rs555755221, rs1412133967, rs759850328	RCV001831896 RCV001271580 RCV001831897 RCV001002936 RCV001276492 RCV001826775 RCV001826776 RCV005614538 RCV001836389 RCV005607036 RCV001276487 RCV000505111 RCV001831503 RCV001831504 RCV001274134 RCV001831927 RCV001276483 RCV001826887 RCV001826904 RCV001832025 RCV005608794 RCV001828038 RCV001828039 RCV001271568 RCV001828040 RCV001833167 RCV001002937 RCV001835724 RCV001002938 RCV001833165 RCV001833166 RCV001828101 RCV001271589 RCV001274126 RCV001833239 RCV001833301 RCV001199656 RCV001271571 RCV005616629 RCV005616803 RCV003324527 RCV000515679 RCV000515712 RCV001271569 RCV001829441 RCV001276485 RCV000787558 RCV001276491 RCV001834980 RCV001829789 RCV001274130 RCV001835025 RCV001276493 RCV001825379 RCV000787561 RCV000787560 RCV001830808 RCV001830724 RCV001830822 RCV001274127 RCV001274136 RCV001835671 RCV000787559 RCV001274137 RCV001274135 RCV001276488 RCV001831810 RCV001002935 RCV001199657 RCV001827170 RCV001827398 RCV001827238 RCV001832446 RCV001832529 RCV001274129 RCV001836118 RCV001828613 RCV001828771 RCV001833851
Leber congenital amaurosis 10	Likely pathogenic; Pathogenic	rs1404507934, rs1381940328, rs1196938557, rs2035880971, rs62640581, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs767231715, rs767426153, rs2035400071, rs775969711, rs879447211, rs779645669, rs758991387, rs2036977719, rs2137720951, rs868650061, rs897997464, rs2138021345, rs1277316340, rs2137423759, rs2138086844, rs2138298697, rs587779733, rs1478582091, rs2137661795, rs763226787, rs2136911405, rs2138258171, rs2137150860, rs1219184437, rs992032116, rs935130451, rs1207944612, rs886042467, rs780954447, rs773525033, rs1017496924, rs1304430926, rs2137182509, rs137852832, rs281865192, rs137852833, rs137852834, rs137852835, rs2137919146, rs267606719, rs587783009, rs587783010, rs587783016, rs587783017, rs727503853, rs2038340977, rs768065164, rs1027368517, rs2499838601, rs2499960522, rs766608755, rs370119681, rs758329611, rs2500101115, rs2040047006, rs2499974587, rs797044604, rs771454167, rs371525247, rs575767207, rs376493409, rs749439750, rs539400286, rs727503855, rs863225186, rs758550675, rs878853362, rs747835249, rs371496675, rs878853360, rs2037480294, rs780225183, rs886042153, rs886042359, rs760915898, rs886043303, rs758878983, rs2499957266, rs2500112760, rs1168542133, rs2038915208, rs2501054131, rs2500744133, rs2500867184, rs2500121621, rs1438792443, rs779409629, rs1184012636, rs2499744201, rs373341530, rs2500742395, rs2499571369, rs757641323, rs1057518822, rs1057519165, rs1060499781, rs763762899, rs777464278, rs369523378, rs781670422, rs965522059, rs1555220625, rs766670248, rs758593134, rs1452465499, rs1369768287, rs760540562, rs771266705, rs1170451277, rs1555225566, rs776645403, rs757609119, rs751361090, rs1226324483, rs764309755, rs772170760, rs753884599, rs1213286417, rs561598805, rs1592833648, rs968692633, rs747138345, rs1294402003, rs778030031, rs749331348, rs1339975972, rs760415289, rs1290241933, rs1302558061, rs386834148, rs386834149, rs386834152, rs62640570, rs386834157, rs386834158, rs386834159, rs1592671672, rs375548374, rs45502896, rs1592807018, rs1221464366, rs773622064, rs2033254449, rs781310385, rs2033943937, rs1364945778, rs1033594764, rs770126103, rs2034232539, rs750073051, rs368984997, rs770175184, rs773642187, rs1177923180, rs2036318355, rs774410421, rs2034579709, rs2036824785, rs1292516576	RCV002504524 RCV001376368 RCV005005228 RCV005005225 RCV002498466 RCV005008008 RCV002227445 RCV005003468 RCV002490750 RCV002505021 RCV002505022 RCV002488212 RCV002493927 RCV005005242 RCV005005926 RCV005005922 RCV005005914 RCV005005240 RCV002476720 RCV002508962 RCV002499790 RCV005005925 RCV005005239 RCV002504643 RCV005005236 RCV002504651 RCV001535856 RCV002495869 RCV001591913 RCV002505025 RCV002503334 RCV005002763 RCV002498073 RCV005002712 RCV005002714 RCV004796693 RCV002503494 RCV002503602 RCV002484803 RCV002507780 RCV005006312 RCV005006155 RCV005006189 RCV005002725 RCV002484413 RCV005006145 RCV005006295 RCV000515339 RCV000001400 RCV000001401 RCV000001403 RCV001376372 RCV000001408 RCV004760315 RCV000144459 RCV000144460 RCV000144467 RCV000144468 RCV002492571 RCV002470298 RCV005010896 RCV005002928 RCV005011021 RCV005002962 RCV004798798 RCV001376454 RCV001352985 RCV005002846 RCV005002894 RCV005002892 RCV000192446 RCV001376478 RCV004798806 RCV000763310 RCV000763311 RCV002250594 RCV000763314 RCV001376373 RCV005008140 RCV005008141 RCV002500630 RCV002478827 RCV002503881 RCV002500754 RCV005003571 RCV005003038 RCV002500965 RCV002479997 RCV005008234 RCV000763313 RCV002494853 RCV005012981 RCV005012982 RCV005003647 RCV005003648 RCV005003714 RCV005003707 RCV004796843 RCV005003719 RCV005013197 RCV005013192 RCV005013194 RCV005003718 RCV005003716 RCV005013196 RCV005254878 RCV005003721 RCV003991657 RCV005006443 RCV002470852 RCV005004147 RCV005004149 RCV005004159 RCV005004179 RCV005869488 RCV001535842 RCV001536096 RCV000763318 RCV002497033 RCV002491001 RCV002497107 RCV002483577 RCV002491180 RCV002250666 RCV005004279 RCV000763316 RCV002483763 RCV000763317 RCV005010615 RCV005010638 RCV000678536 RCV002485669 RCV002499260 RCV002493254 RCV001814230 RCV005004418 RCV002477791 RCV002493435 RCV002487837 RCV005012338 RCV005004442 RCV002495153 RCV005012330 RCV005004450 RCV002487758 RCV002290458 RCV005004455 RCV002288555 RCV005003445 RCV001376367 RCV002504950 RCV001807771 RCV001376199 RCV002483069 RCV000991447 RCV005012429 RCV001004996 RCV001535995 RCV005004480 RCV002481816 RCV001029956 RCV002505632 RCV002497410 RCV002497383 RCV005012517 RCV002505627 RCV005012467 RCV002497434 RCV005012543 RCV005012544 RCV002482162 RCV005012590 RCV005012637 RCV002504305 RCV001376200 RCV002504334 RCV005012679 RCV005012700 RCV005012702 RCV005005128 RCV003989669
Meckel syndrome, type 4	Likely pathogenic; Pathogenic	rs1404507934, rs1196938557, rs2035880971, rs62640581, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs767231715, rs767426153, rs2035400071, rs775969711, rs879447211, rs779645669, rs758991387, rs2036977719, rs2137720951, rs2038919221, rs868650061, rs897997464, rs2138021345, rs1277316340, rs2137423759, rs2138086844, rs587779733, rs2137155245, rs1478582091, rs2137661795, rs763226787, rs2136911405, rs2138258171, rs2137150860, rs1219184437, rs992032116, rs935130451, rs1207944612, rs886042467, rs780954447, rs773525033, rs1017496924, rs1304430926, rs2137182509, rs137852832, rs281865192, rs137852834, rs137852835, rs587783009, rs587783017, rs2501851232, rs727503853, rs768065164, rs1382701532, rs1027368517, rs2499838601, rs2499960522, rs370119681, rs758329611, rs2500101115, rs2040047006, rs2499974587, rs797044604, rs771454167, rs371525247, rs575767207, rs376493409, rs749439750, rs539400286, rs727503855, rs863225186, rs863225185, rs758550675, rs771864158, rs878853362, rs747835249, rs371496675, rs878853360, rs2037480294, rs886039805, rs780225183, rs886042153, rs886042359, rs760915898, rs886043303, rs763345078, rs758878983, rs2499957266, rs2499617680, rs2500112760, rs1168542133, rs2038915208, rs2501054131, rs2500744133, rs2500867184, rs2500121621, rs1438792443, rs779409629, rs1184012636, rs2499744201, rs2500742395, rs2499571369, rs757641323, rs1057518822, rs1057519165, rs1060499781, rs763762899, rs1555220638, rs369523378, rs781670422, rs965522059, rs1555220625, rs766670248, rs758593134, rs1452465499, rs1369768287, rs760540562, rs1555213204, rs771266705, rs1170451277, rs1555225566, rs776645403, rs757609119, rs751361090, rs764309755, rs772170760, rs753884599, rs1213286417, rs561598805, rs1592833648, rs968692633, rs747138345, rs1294402003, rs778030031, rs749331348, rs1339975972, rs760415289, rs1290241933, rs1302558061, rs1209421607, rs386834148, rs386834149, rs386834150, rs386834151, rs386834152, rs386834153, rs62640570, rs386834155, rs386834156, rs386834157, rs386834158, rs386834159, rs1592671672, rs375548374, rs763473957, rs45502896, rs1592807018, rs1221464366, rs773622064, rs2033254449, rs781310385, rs2033943937, rs1364945778, rs1033594764, rs770126103, rs762633090, rs2034232539, rs750073051, rs368984997, rs1412133967, rs770175184, rs773642187, rs778407127, rs2036318355, rs774410421, rs2034579709, rs2036824785	RCV002504524 RCV005005228 RCV005005225 RCV002498466 RCV005008008 RCV005008009 RCV005003468 RCV002490750 RCV002505021 RCV002505022 RCV002488212 RCV002493927 RCV005005242 RCV005005926 RCV005005922 RCV005005914 RCV005005240 RCV002476720 RCV001806161 RCV002499790 RCV005005925 RCV005057356 RCV005005239 RCV002504643 RCV005005236 RCV002504651 RCV001535856 RCV002495869 RCV002505025 RCV001808208 RCV002503334 RCV005002763 RCV002498073 RCV005002712 RCV005002714 RCV004796693 RCV002503494 RCV002503602 RCV002484803 RCV002507780 RCV005006312 RCV005006155 RCV005006189 RCV005002725 RCV002484413 RCV005006145 RCV005006295 RCV000515339 RCV000763315 RCV000763312 RCV000001407 RCV002492522 RCV002483278 RCV002287252 RCV002492571 RCV005010896 RCV005239616 RCV005002928 RCV005011021 RCV005002962 RCV002222427 RCV002478592 RCV005002846 RCV005002894 RCV005002892 RCV000192446 RCV002500628 RCV005003554 RCV000763310 RCV000763311 RCV002485329 RCV000502726 RCV002500629 RCV005008140 RCV001808559 RCV000503197 RCV002500630 RCV006249846 RCV002478827 RCV002503881 RCV002500754 RCV003155133 RCV005003038 RCV001261603 RCV002500965 RCV002479997 RCV005008234 RCV000763313 RCV002494853 RCV005870136 RCV005012981 RCV005012982 RCV004786946 RCV005003647 RCV005003648 RCV005003714 RCV005003707 RCV004796843 RCV005003719 RCV005013197 RCV005013192 RCV005013194 RCV005407255 RCV005003716 RCV005013196 RCV005003721 RCV005006443 RCV005010313 RCV005004147 RCV005004149 RCV005004159 RCV003987554 RCV004800425 RCV001535842 RCV001536096 RCV000763318 RCV002497033 RCV002491001 RCV002289749 RCV002483577 RCV002491180 RCV002506412 RCV002271536 RCV005004279 RCV000763316 RCV002483763 RCV000763317 RCV005010615 RCV000656738 RCV002485669 RCV002499260 RCV002493254 RCV001270095 RCV005004418 RCV002477791 RCV002493435 RCV002487837 RCV005012338 RCV005004442 RCV002495153 RCV005012330 RCV005004450 RCV002487758 RCV005004443 RCV005004455 RCV001000094 RCV000050142 RCV000050143 RCV000050144 RCV000050145 RCV000050146 RCV000050147 RCV000050148 RCV000050149 RCV000050150 RCV000050151 RCV000050152 RCV000050153 RCV000991447 RCV005012429 RCV002286795 RCV002479201 RCV001535995 RCV005004480 RCV002481816 RCV002479228 RCV002505632 RCV002497410 RCV002497383 RCV005012517 RCV002505627 RCV005012467 RCV002497434 RCV003331040 RCV005012543 RCV005012544 RCV002482162 RCV005012590 RCV004546619 RCV005012637 RCV002504305 RCV002504334 RCV001248762 RCV005012679 RCV005012700 RCV005012702 RCV005005128
Meckel syndrome, type 6	Likely pathogenic; Pathogenic	rs137852832, rs267606719, rs1292516576	RCV001261607 RCV001261609 RCV001261608
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs2038702746, rs774705706, rs1404507934, rs1196938557, rs2136958216, rs2035880971, rs1007902545, rs2138025029, rs2138082472, rs62640580, rs62640570, rs62640581, rs62640582, rs62640572, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs2136546348, rs775189201, rs767231715, rs1414041522, rs2136724878, rs2136725569, rs2136748724, rs2136751258, rs2136911634, rs767426153, rs2035400071, rs2136964738, rs2137080156, rs775969711, rs1367899236, rs995093343, rs879447211, rs751807811, rs779645669, rs2036717675, rs2137269723, rs2036816455, rs1417251616, rs1565846034, rs758991387, rs2137301783, rs2036977719, rs2137344539, rs2137345150, rs2037226237, rs2037477197, rs1223251937, rs2137624524, rs2137711696, rs2137720951, rs2038919221, rs2039204524, rs2137903965, rs868650061, rs897997464, rs2138000998, rs2138021345, rs764507012, rs2138083048, rs1277316340, rs2039993548, rs2138215835, rs752144368, rs2138297703, rs1288619268, rs2138086844, rs1267970567, rs1177923180, rs587779733, rs1478582091, rs2037478393, rs2136964542, rs1565827171, rs2136547054, rs62640579, rs2136704614, rs2137661795, rs2137917114, rs763226787, rs2137183334, rs2137101209, rs2136656497, rs1482471100, rs2136911405, rs2137836218, rs1375836634, rs2138258171, rs2137279498, rs2137150860, rs2137368561, rs1219184437, rs2137151163, rs2136964385, rs2033254449, rs768864797, rs992032116, rs935130451, rs2138259162, rs2138215714, rs2138259100, rs1269182131, rs1339320666, rs2038335853, rs1468269366, rs2137276301, rs2136728464, rs1592574519, rs2136814350, rs2036977924, rs2136966486, rs1207944612, rs2138023519, rs1361189290, rs2136910908, rs750520052, rs2137219551, rs2138093868, rs2137425453, rs2137248487, rs2138086329, rs2138258864, rs2137342973, rs1234975160, rs2137707354, rs1057519165, rs2137665576, rs2137170285, rs2035393800, rs2039897317, rs2137663442, rs2138021203, rs2136637204, rs760653238, rs2138093974, rs1180594304, rs2137103699, rs2137614623, rs886042467, rs281865190, rs780954447, rs2035358840, rs2137167420, rs746305733, rs773525033, rs2137156392, rs1166981120, rs2138257533, rs2137050478, rs2040498071, rs2137251821, rs1017496924, rs1450189463, rs2137152484, rs2137247685, rs2039957886, rs867904492, rs1440259390, rs1287628446, rs2137868361, rs1304430926, rs2039985700, rs2138085855, rs2137277291, rs2137182509, rs2137365958, rs2036830890, rs2137779120, rs137852832, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs587783009, rs587783016, rs587783017, rs2137056192, rs2137624440, rs2136546576, rs727503853, rs727503855, rs768065164, rs1382701532, rs1027368517, rs1292246271, rs1592668925, rs765483163, rs764309755, rs2499617642, rs1014354752, rs2499838601, rs2499853126, rs2500759351, rs2499960522, rs2036817502, rs747239148, rs1475139450, rs766608755, rs2501090110, rs1231036283, rs2039902653, rs2035399616, rs370119681, rs758329611, rs2500101115, rs2501849042, rs2499860162, rs2039989513, rs2036712105, rs2501093691, rs767250881, rs2501269442, rs773390201, rs2036111540, rs2500817276, rs746413821, rs2500865968, rs780896294, rs2501035387, rs1346690922, rs2499858442, rs2499731924, rs751223288, rs2501544530, rs1565821736, rs2500763272, rs2500065308, rs1184012636, rs2499726960, rs2035884532, rs2500156012, rs2500066079, rs2499570339, rs2499910412, rs2499571894, rs2499910206, rs1592671313, rs2501497769, rs1306782857, rs2500228774, rs2040047006, rs2499911272, rs2499974587, rs2501466847, rs2499959456, rs2500060832, rs2499957344, rs2499961754, rs2499339598, rs1308598847, rs2037480406, rs2500113822, rs2501852178, rs1247861318, rs2500628432, rs863224523, rs2500523689, rs771454167, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225184, rs863225183, rs863225186, rs863225185, rs758550675, rs2501476639, rs2499616926, rs2500616179, rs2500935910, rs2499527666, rs367676646, rs2500620311, rs2499472817, rs908238464, rs2501468319, rs2500060132, rs2499740973, rs2501800454, rs769091629, rs771864158, rs2034243912, rs2499619686, rs2500121878, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878896889, rs886039805, rs780225183, rs886042153, rs886042359, rs886042360, rs760915898, rs886043303, rs886044332, rs2500121943, rs1411950710, rs1231122388, rs771939468, rs1420974027, rs2500524863, rs2039987359, rs766095901, rs1159120623, rs1345613057, rs1237799214, rs1168542133, rs868148490, rs2501503340, rs2500613493, rs1285349002, rs1441877386, rs1381090737, rs2500269301, rs2501502939, rs2499911513, rs2499961991, rs2499470143, rs2500271417, rs2500618622, rs2500627820, rs868347260, rs2499958555, rs2501040632, rs2499955544, rs2038915208, rs2501054131, rs2500744133, rs2500866434, rs2036106218, rs1475658217, rs1158268529, rs2499619599, rs2499988736, rs1592550848, rs2501333823, rs2499958316, rs2500866580, rs2499843752, rs2499844187, rs868858346, rs2499991573, rs1325063481, rs2500814936, rs2499572404, rs2500867184, rs2500683218, rs2499443322, rs2137662565, rs2500121621, rs1438792443, rs2499445099, rs2499907395, rs779409629, rs2499676199, rs2499860456, rs2500612408, rs1555217024, rs2499744612, rs1225676118, rs2500112677, rs2500628699, rs2500627262, rs1337146202, rs2501098066, rs2500108418, rs2501862857, rs2500009261, rs2499744201, rs2501542597, rs2501272074, rs1366385653, rs2500866381, rs2500813056, rs2499741922, rs1565835538, rs2499620281, rs373341530, rs2499956762, rs2500615773, rs2499914261, rs2500829029, rs2500111542, rs2500742395, rs2499859881, rs2500011110, rs1440468666, rs2500065047, rs2499972252, rs2499426087, rs2500060504, rs2500096910, rs2500117363, rs2499856690, rs2499444567, rs2499989379, rs2500813302, rs2499370007, rs1555216730, rs2501278271, rs2500619029, rs2501474958, rs886038694, rs2499445529, rs2500270196, rs2500613030, rs2500019381, rs2499446500, rs2499741312, rs2501462993, rs757641323, rs773386777, rs1057518822, rs1060499781, rs763762899, rs777464278, rs766952056, rs369523378, rs781670422, rs965522059, rs1555212271, rs1555220625, rs200818935, rs766670248, rs1555201796, rs1555205328, rs1278679056, rs758593134, rs1272411609, rs1452465499, rs1369768287, rs760540562, rs780805963, rs1555213204, rs771266705, rs1170451277, rs1555225566, rs1192112844, rs1555212150, rs776645403, rs757609119, rs751361090, rs1565822519, rs772170760, rs753884599, rs1203763812, rs1213286417, rs1157238971, rs561598805, rs1465414886, rs968692633, rs747138345, rs1294402003, rs778030031, rs754728136, rs749331348, rs1592808035, rs1459653241, rs1339975972, rs1468942944, rs760415289, rs1592656929, rs1290241933, rs1592706963, rs1302558061, rs386834148, rs386834149, rs386834151, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1039146791, rs1592671672, rs375548374, rs1592784618, rs45502896, rs1592807018, rs1221464366, rs773622064, rs778907433, rs781310385, rs2033943937, rs2034330893, rs1364945778, rs2035124136, rs2035367210, rs761907569, rs372640024, rs2036971853, rs903257336, rs1033594764, rs1186821575, rs770126103, rs2040644607, rs2036722229, rs2037150824, rs764551108, rs2039659434, rs1219277452, rs2033937635, rs748471942, rs762633090, rs774490795, rs752197734, rs2034232539, rs750073051, rs763559949, rs368984997, rs2040644756, rs2033827549, rs555755221, rs1412133967, rs770175184, rs2039321844, rs2039364798, rs2036372197, rs2036974151, rs867094910, rs2040373653, rs759850328, rs773642187, rs2036306894, rs2036833257, rs2036975289, rs770474857, rs778407127, rs1437841365, rs1489175048, rs2034235109, rs766259648, rs2036318355, rs2040497202, rs2034579427, rs951979448, rs774410421, rs2036824785, rs1292516576	RCV001863212 RCV001387506 RCV001390586 RCV001378757 RCV001377335 RCV001377792 RCV001379336 RCV001378660 RCV001377745 RCV001230884 RCV000114193 RCV001216498 RCV002513927 RCV002514528 RCV001385691 RCV000637002 RCV001235817 RCV001222718 RCV000803171 RCV001385881 RCV001390390 RCV001384498 RCV001390143 RCV001383766 RCV001389629 RCV001390986 RCV001383212 RCV001383071 RCV001382003 RCV001382358 RCV001386457 RCV001388961 RCV001387873 RCV001380171 RCV001380302 RCV001381482 RCV001384921 RCV001383666 RCV001387807 RCV001388146 RCV001381486 RCV001390861 RCV001385920 RCV001382323 RCV001385692 RCV001390644 RCV001383378 RCV001385028 RCV001381411 RCV001388128 RCV001383617 RCV001383419 RCV001382107 RCV001383422 RCV001384677 RCV001382457 RCV001388413 RCV001383423 RCV001381567 RCV001380679 RCV001387802 RCV001384499 RCV001389479 RCV001386120 RCV001385880 RCV001381898 RCV001388835 RCV001387371 RCV001384356 RCV001386072 RCV001389191 RCV003771340 RCV001882615 RCV002544259 RCV002034581 RCV000114199 RCV002545200 RCV001917076 RCV001919336 RCV001900889 RCV001997322 RCV001997345 RCV001962676 RCV002015044 RCV001902894 RCV002027685 RCV001925546 RCV001904249 RCV001945145 RCV002037623 RCV001999874 RCV001999893 RCV001941643 RCV001960553 RCV001960558 RCV001960598 RCV001863864 RCV001884185 RCV001936039 RCV001946707 RCV001937369 RCV001954522 RCV001953867 RCV001953901 RCV002017506 RCV002017305 RCV001961872 RCV001932417 RCV001949664 RCV001958976 RCV001896199 RCV002004700 RCV001874682 RCV001920048 RCV002004621 RCV001894546 RCV002035322 RCV002006928 RCV002037868 RCV002000202 RCV002000210 RCV001994798 RCV001993167 RCV001993174 RCV001899355 RCV001915004 RCV001994696 RCV002035419 RCV001993385 RCV001896630 RCV001942182 RCV001942017 RCV001994352 RCV001934332 RCV001929413 RCV002002548 RCV001939333 RCV002016508 RCV001951196 RCV002020667 RCV002030172 RCV001913188 RCV001936519 RCV001951020 RCV001951033 RCV001951136 RCV001905654 RCV001991357 RCV001911592 RCV001942295 RCV001995863 RCV001898905 RCV001956388 RCV001956092 RCV001972739 RCV001956181 RCV001969840 RCV001972545 RCV001953690 RCV001906575 RCV001982050 RCV001963182 RCV002006563 RCV001892078 RCV001981996 RCV001982911 RCV001906982 RCV001934910 RCV002042104 RCV001895307 RCV001987251 RCV001929705 RCV001914219 RCV001979757 RCV001909306 RCV001984704 RCV001984090 RCV001980914 RCV000114202 RCV001851540 RCV000558460 RCV001851541 RCV001046610 RCV001042869 RCV001384909 RCV001385693 RCV000457302 RCV003089158 RCV003774847 RCV003101543 RCV001230296 RCV003764937 RCV003062529 RCV003058389 RCV003041165 RCV003041166 RCV003051065 RCV003765074 RCV003061590 RCV003082940 RCV002588063 RCV002585497 RCV002591603 RCV002602816 RCV002627918 RCV002595479 RCV002588610 RCV002591896 RCV001220534 RCV002623601 RCV002612526 RCV003106392 RCV003121531 RCV001036300 RCV001244941 RCV002571879 RCV002575491 RCV002572250 RCV002577501 RCV002630561 RCV002587488 RCV002635355 RCV002635356 RCV002618037 RCV002654234 RCV002640094 RCV002663540 RCV002694938 RCV002736604 RCV002790672 RCV002741910 RCV002770628 RCV002770659 RCV002814606 RCV002807051 RCV002824443 RCV002824462 RCV002801954 RCV002819910 RCV002815556 RCV002801728 RCV002819748 RCV002802230 RCV002846596 RCV002856805 RCV002856901 RCV002842017 RCV002862014 RCV002816434 RCV002829407 RCV002857633 RCV002889123 RCV002880883 RCV002857203 RCV002862935 RCV002863653 RCV002898624 RCV002881247 RCV002852113 RCV002867991 RCV002895740 RCV002912902 RCV002872587 RCV002912647 RCV002885198 RCV002899432 RCV002894942 RCV002938149 RCV002952940 RCV001382833 RCV002976183 RCV001224012 RCV001382359 RCV001058542 RCV000457599 RCV000806654 RCV001036850 RCV000795962 RCV000816913 RCV002517311 RCV001383861 RCV001383421 RCV000686453 RCV000697843 RCV001236913 RCV001044809 RCV002519580 RCV001243311 RCV003015512 RCV003010340 RCV003016859 RCV003018225 RCV003021281 RCV003009980 RCV003033927 RCV003043024 RCV003037722 RCV003029037 RCV003023897 RCV003053791 RCV003055318 RCV003056987 RCV003055543 RCV003039923 RCV003047590 RCV003059556 RCV001383420 RCV000692104 RCV001389936 RCV001223284 RCV001854802 RCV003778673 RCV000256475 RCV000636991 RCV001380938 RCV001859558 RCV001384490 RCV000473837 RCV000636995 RCV001859707 RCV003777371 RCV003779151 RCV003779152 RCV005220723 RCV003779153 RCV003779154 RCV005216119 RCV005216120 RCV003779155 RCV005216121 RCV003779156 RCV003779157 RCV003779158 RCV003779159 RCV005216122 RCV003779160 RCV003779161 RCV003785547 RCV003782818 RCV003782910 RCV003785277 RCV003783194 RCV003783591 RCV003783592 RCV003783593 RCV003783594 RCV003783595 RCV003790581 RCV003793185 RCV003793188 RCV003793380 RCV003779392 RCV003780009 RCV003782654 RCV003787549 RCV003787889 RCV003788028 RCV003788445 RCV003787286 RCV003785026 RCV003792448 RCV003807799 RCV003807912 RCV003807914 RCV003807915 RCV003808005 RCV003808159 RCV003806084 RCV003808275 RCV003808316 RCV003808387 RCV003808415 RCV003804430 RCV003806894 RCV003791105 RCV003791552 RCV003791609 RCV003805604 RCV003807722 RCV003803459 RCV003805799 RCV003805876 RCV003805944 RCV003803713 RCV003803920 RCV003801538 RCV003804165 RCV003804201 RCV003804252 RCV003804333 RCV003798925 RCV003799241 RCV003799416 RCV003802842 RCV003805301 RCV003803606 RCV003809133 RCV003809160 RCV003801218 RCV003796840 RCV003796931 RCV003800327 RCV003800448 RCV003808557 RCV003808673 RCV003800729 RCV003808696 RCV003808918 RCV003808930 RCV003807043 RCV003804787 RCV003801790 RCV003802027 RCV003802108 RCV003802364 RCV003802393 RCV003817703 RCV003818003 RCV003801618 RCV003801663 RCV003801701 RCV003801743 RCV003809768 RCV003810030 RCV003815297 RCV003815557 RCV003807447 RCV003807580 RCV003810554 RCV003812742 RCV003812795 RCV003812820 RCV003812836 RCV003812839 RCV003807222 RCV003807247 RCV003805167 RCV003805185 RCV003812254 RCV003810213 RCV003810218 RCV003810220 RCV003810349 RCV000552078 RCV003766166 RCV003766165 RCV001209427 RCV000813873 RCV001238421 RCV001060437 RCV001070331 RCV000687629 RCV001203973 RCV000636990 RCV001857990 RCV001058827 RCV001378303 RCV000555880 RCV000546047 RCV000525824 RCV000540957 RCV000542843 RCV002530367 RCV001381364 RCV001056739 RCV000636987 RCV002531013 RCV002532698 RCV001041101 RCV000814304 RCV000704380 RCV000636997 RCV000636994 RCV000636983 RCV000636996 RCV001208507 RCV000705120 RCV000694088 RCV000701688 RCV001868322 RCV001211577 RCV000817988 RCV002535633 RCV001207057 RCV001383424 RCV001244155 RCV000821112 RCV000806946 RCV000810929 RCV000815985 RCV000824248 RCV000801430 RCV000793218 RCV000796936 RCV000820623 RCV000823686 RCV000810414 RCV000791790 RCV000810939 RCV000823106 RCV000824247 RCV001235658 RCV001388055 RCV001853067 RCV000685655 RCV001053674 RCV001853068 RCV000702996 RCV000815718 RCV001212861 RCV001869357 RCV001389258 RCV001386103 RCV001860525 RCV001860572 RCV001860589 RCV001384273 RCV001388565 RCV001380322 RCV001231786 RCV001062455 RCV001052782 RCV001045374 RCV001063917 RCV001053194 RCV001060340 RCV001049397 RCV001068093 RCV001044834 RCV001045344 RCV001036503 RCV001046023 RCV001039641 RCV001047416 RCV001058714 RCV001058761 RCV001041071 RCV001054904 RCV001035038 RCV001063723 RCV001061596 RCV003768995 RCV001234472 RCV001243657 RCV001862596 RCV003768988 RCV001862612 RCV003769016 RCV002554821 RCV002555950 RCV001862693 RCV002555951 RCV001380942 RCV001863097 RCV001211579 RCV001222226 RCV001224982 RCV001214318 RCV001216487 RCV001203000 RCV001204615 RCV001203138 RCV001202458 RCV001211207 RCV001229340 RCV001233471 RCV001227714 RCV001235735 RCV001232419 RCV001226858 RCV001225724 RCV001237935 RCV001232256 RCV001230980 RCV001228504 RCV001231549 RCV001244300 RCV001244154 RCV001246193 RCV001245425 RCV001238408 RCV001230885 RCV001237836 RCV001382992 RCV001390760 RCV002541764
Micrognathia	Likely pathogenic; Pathogenic	rs763762899	RCV001270057
Molar tooth sign on MRI	Pathogenic; Likely pathogenic	rs137852834, rs1057518822	RCV000415120 RCV000414899
Nephronophthisis	Likely pathogenic; Pathogenic	rs2038702746, rs774705706, rs1404507934, rs1196938557, rs2136958216, rs2035880971, rs1007902545, rs2138025029, rs2138082472, rs62640580, rs62640570, rs62640581, rs62640582, rs62640572, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs2136546348, rs775189201, rs767231715, rs1414041522, rs2136724878, rs2136725569, rs2136748724, rs2136751258, rs2136911634, rs767426153, rs2035400071, rs2136964738, rs2137080156, rs775969711, rs1367899236, rs995093343, rs879447211, rs751807811, rs779645669, rs2036717675, rs2137269723, rs2036816455, rs1417251616, rs1565846034, rs758991387, rs2137301783, rs2036977719, rs2137344539, rs2137345150, rs2037226237, rs2037477197, rs1223251937, rs2137624524, rs2137711696, rs2137720951, rs2038919221, rs2039204524, rs2137903965, rs868650061, rs897997464, rs2138000998, rs2138021345, rs764507012, rs2138083048, rs1277316340, rs2039993548, rs2138215835, rs752144368, rs2138297703, rs1288619268, rs2138086844, rs1267970567, rs1177923180, rs587779733, rs1478582091, rs2037478393, rs2136964542, rs1565827171, rs2136547054, rs62640579, rs2136704614, rs2137661795, rs2137917114, rs763226787, rs2137183334, rs2137101209, rs2136656497, rs1482471100, rs2136911405, rs2137836218, rs1375836634, rs2138258171, rs2137279498, rs2137150860, rs2137368561, rs1219184437, rs2137151163, rs2136964385, rs2033254449, rs768864797, rs992032116, rs935130451, rs2138259162, rs2138215714, rs2138259100, rs1269182131, rs1339320666, rs2038335853, rs1468269366, rs2137276301, rs2136728464, rs1592574519, rs2136814350, rs2036977924, rs2136966486, rs1207944612, rs2138023519, rs1361189290, rs2136910908, rs750520052, rs2137219551, rs2138093868, rs2137425453, rs2137248487, rs2138086329, rs2138258864, rs2137342973, rs1234975160, rs2137707354, rs1057519165, rs2137665576, rs2137170285, rs2035393800, rs2039897317, rs2137663442, rs2138021203, rs2136637204, rs760653238, rs2138093974, rs1180594304, rs2137103699, rs2137614623, rs886042467, rs281865190, rs780954447, rs2035358840, rs2137167420, rs746305733, rs773525033, rs2137156392, rs1166981120, rs2138257533, rs2137050478, rs2040498071, rs2137251821, rs1017496924, rs1450189463, rs2137152484, rs2137247685, rs2039957886, rs867904492, rs1440259390, rs1287628446, rs2137868361, rs1304430926, rs2039985700, rs2138085855, rs2137277291, rs2137182509, rs2137365958, rs2036830890, rs2137779120, rs137852832, rs62635288, rs281865192, rs137852833, rs137852834, rs137852835, rs587783009, rs587783016, rs587783017, rs2137056192, rs2137624440, rs2136546576, rs727503853, rs727503855, rs768065164, rs1382701532, rs1027368517, rs1292246271, rs1592668925, rs765483163, rs764309755, rs2499617642, rs1014354752, rs2499838601, rs2499853126, rs2500759351, rs2499960522, rs2036817502, rs747239148, rs1475139450, rs766608755, rs2501090110, rs1231036283, rs2039902653, rs2035399616, rs370119681, rs758329611, rs2500101115, rs2501849042, rs2499860162, rs2039989513, rs2036712105, rs2501093691, rs767250881, rs2501269442, rs773390201, rs2036111540, rs2500817276, rs746413821, rs2500865968, rs780896294, rs2501035387, rs1346690922, rs2499858442, rs2499731924, rs751223288, rs2501544530, rs1565821736, rs2500763272, rs2500065308, rs1184012636, rs2499726960, rs2035884532, rs2500156012, rs2500066079, rs2499570339, rs2499910412, rs2499571894, rs2499910206, rs1592671313, rs2501497769, rs1306782857, rs2500228774, rs2040047006, rs2499911272, rs2499974587, rs2501466847, rs2499959456, rs2500060832, rs2499957344, rs2499961754, rs2499339598, rs1308598847, rs2037480406, rs2500113822, rs2501852178, rs1247861318, rs2500628432, rs863224523, rs2500523689, rs771454167, rs371525247, rs575767207, rs756302731, rs376493409, rs749439750, rs780624853, rs539400286, rs863225182, rs863225189, rs863225184, rs863225183, rs863225186, rs863225185, rs758550675, rs2501476639, rs2499616926, rs2500616179, rs2500935910, rs2499527666, rs367676646, rs2500620311, rs2499472817, rs908238464, rs2501468319, rs2500060132, rs2499740973, rs2501800454, rs769091629, rs771864158, rs2034243912, rs2499619686, rs2500121878, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs878896889, rs780225183, rs886042153, rs886042359, rs886042360, rs760915898, rs886043303, rs886044332, rs2500121943, rs1411950710, rs1231122388, rs771939468, rs1420974027, rs2500524863, rs2039987359, rs766095901, rs1159120623, rs1345613057, rs1237799214, rs1168542133, rs868148490, rs2501503340, rs2500613493, rs1285349002, rs1441877386, rs1381090737, rs2500269301, rs2501502939, rs2499911513, rs2499961991, rs2499470143, rs2500271417, rs2500618622, rs2500627820, rs868347260, rs2499958555, rs2501040632, rs2499955544, rs2038915208, rs2501054131, rs2500744133, rs2500866434, rs2036106218, rs1475658217, rs1158268529, rs2499619599, rs2499988736, rs1592550848, rs2501333823, rs2499958316, rs2500866580, rs2499843752, rs2499844187, rs868858346, rs2499991573, rs1325063481, rs2500814936, rs2499572404, rs2500867184, rs2500683218, rs2499443322, rs2137662565, rs2500121621, rs1438792443, rs2499445099, rs2499907395, rs779409629, rs2499676199, rs2499860456, rs2500612408, rs1555217024, rs2499744612, rs1225676118, rs2500112677, rs2500628699, rs2500627262, rs1337146202, rs2501098066, rs2500108418, rs2501862857, rs2500009261, rs2499744201, rs2501542597, rs2501272074, rs1366385653, rs2500866381, rs2500813056, rs2499741922, rs1565835538, rs2499620281, rs373341530, rs2499956762, rs2500615773, rs2499914261, rs2500829029, rs2500111542, rs2500742395, rs2499859881, rs2500011110, rs1440468666, rs2500065047, rs2499972252, rs2499426087, rs2500060504, rs2500096910, rs2500117363, rs2499856690, rs2499444567, rs2499989379, rs2500813302, rs2499370007, rs1555216730, rs2501278271, rs2500619029, rs2501474958, rs886038694, rs2499445529, rs2500270196, rs2500613030, rs2500019381, rs2499446500, rs2499741312, rs2501462993, rs757641323, rs773386777, rs1057518822, rs1060499781, rs763762899, rs777464278, rs766952056, rs369523378, rs781670422, rs965522059, rs1555212271, rs1555220625, rs200818935, rs766670248, rs1555201796, rs1555205328, rs1278679056, rs758593134, rs1272411609, rs1452465499, rs1369768287, rs760540562, rs780805963, rs1555213204, rs771266705, rs1170451277, rs1555225566, rs1192112844, rs1555212150, rs776645403, rs757609119, rs751361090, rs1565822519, rs772170760, rs753884599, rs1203763812, rs1213286417, rs1157238971, rs561598805, rs1465414886, rs968692633, rs747138345, rs1294402003, rs778030031, rs754728136, rs749331348, rs1592808035, rs1459653241, rs1339975972, rs1468942944, rs760415289, rs1592656929, rs1290241933, rs1592706963, rs1302558061, rs386834148, rs386834149, rs386834151, rs386834152, rs386834153, rs386834157, rs386834158, rs386834159, rs1039146791, rs1592671672, rs375548374, rs1592784618, rs45502896, rs1592807018, rs1221464366, rs773622064, rs778907433, rs781310385, rs2033943937, rs2034330893, rs1364945778, rs2035124136, rs2035367210, rs761907569, rs372640024, rs2036971853, rs903257336, rs1033594764, rs1186821575, rs770126103, rs2040644607, rs2036722229, rs2037150824, rs764551108, rs2039659434, rs1219277452, rs2033937635, rs748471942, rs762633090, rs774490795, rs752197734, rs2034232539, rs750073051, rs763559949, rs368984997, rs2040644756, rs2033827549, rs555755221, rs1412133967, rs770175184, rs2039321844, rs2039364798, rs2036372197, rs2036974151, rs867094910, rs2040373653, rs759850328, rs773642187, rs2036306894, rs2036833257, rs2036975289, rs770474857, rs778407127, rs1437841365, rs1489175048, rs2034235109, rs766259648, rs2036318355, rs2040497202, rs2034579427, rs951979448, rs774410421, rs2036824785, rs1292516576	RCV001863212 RCV001387506 RCV001390586 RCV001378757 RCV001377335 RCV001377792 RCV001379336 RCV001378660 RCV001377745 RCV001230884 RCV000695282 RCV001216498 RCV002513927 RCV002514528 RCV001385691 RCV000637002 RCV001235817 RCV001222718 RCV000803171 RCV001385881 RCV001390390 RCV001384498 RCV001390143 RCV001383766 RCV001389629 RCV001390986 RCV001383212 RCV001383071 RCV001382003 RCV001382358 RCV001386457 RCV001388961 RCV001387873 RCV001380171 RCV001380302 RCV001381482 RCV001384921 RCV001383666 RCV001387807 RCV001388146 RCV001381486 RCV001390861 RCV001385920 RCV001382323 RCV001385692 RCV001390644 RCV001383378 RCV001385028 RCV001381411 RCV001388128 RCV001383617 RCV001383419 RCV001382107 RCV001383422 RCV001384677 RCV001382457 RCV001388413 RCV001383423 RCV001381567 RCV001380679 RCV001387802 RCV001384499 RCV001389479 RCV001386120 RCV001385880 RCV001381898 RCV001388835 RCV001387371 RCV001384356 RCV001386072 RCV001389191 RCV003771340 RCV001882615 RCV002544259 RCV002034581 RCV001390147 RCV002545200 RCV001917076 RCV001919336 RCV001900889 RCV001997322 RCV001997345 RCV001962676 RCV002015044 RCV001902894 RCV002027685 RCV001925546 RCV001904249 RCV001945145 RCV002037623 RCV001999874 RCV001999893 RCV001941643 RCV001960553 RCV001960558 RCV001960598 RCV001863864 RCV001884185 RCV001936039 RCV001946707 RCV001937369 RCV001954522 RCV001953867 RCV001953901 RCV002017506 RCV002017305 RCV001961872 RCV001932417 RCV001949664 RCV001958976 RCV001896199 RCV002004700 RCV001874682 RCV001920048 RCV002004621 RCV001894546 RCV002035322 RCV002006928 RCV002037868 RCV002000202 RCV002000210 RCV001994798 RCV001993167 RCV001993174 RCV001899355 RCV001915004 RCV001994696 RCV002035419 RCV001993385 RCV001896630 RCV001942182 RCV001942017 RCV001994352 RCV001934332 RCV001929413 RCV002002548 RCV001939333 RCV002016508 RCV001951196 RCV002020667 RCV002030172 RCV001913188 RCV001936519 RCV001951020 RCV001951033 RCV001951136 RCV001905654 RCV001991357 RCV001911592 RCV001942295 RCV001995863 RCV001898905 RCV001956388 RCV001956092 RCV001972739 RCV001956181 RCV001969840 RCV001972545 RCV001953690 RCV001906575 RCV001982050 RCV001963182 RCV002006563 RCV001892078 RCV001981996 RCV001982911 RCV001906982 RCV001934910 RCV002042104 RCV001895307 RCV001987251 RCV001929705 RCV001914219 RCV001979757 RCV001909306 RCV001984704 RCV001984090 RCV001980914 RCV000531295 RCV001328051 RCV000558460 RCV001851541 RCV001046610 RCV001042869 RCV001384909 RCV001385693 RCV000457302 RCV003089158 RCV003774847 RCV003101543 RCV001230296 RCV003764937 RCV003062529 RCV003058389 RCV003041165 RCV003041166 RCV003051065 RCV003765074 RCV003061590 RCV003082940 RCV002588063 RCV002585497 RCV002591603 RCV002602816 RCV002627918 RCV002595479 RCV002588610 RCV002591896 RCV001220534 RCV002623601 RCV002612526 RCV003106392 RCV003121531 RCV001036300 RCV001244941 RCV002571879 RCV002575491 RCV002572250 RCV002577501 RCV002630561 RCV002587488 RCV002635355 RCV002635356 RCV002618037 RCV002654234 RCV002640094 RCV002663540 RCV002694938 RCV002736604 RCV002790672 RCV002741910 RCV002770628 RCV002770659 RCV002814606 RCV002807051 RCV002824443 RCV002824462 RCV002801954 RCV002819910 RCV002815556 RCV002801728 RCV002819748 RCV002802230 RCV002846596 RCV002856805 RCV002856901 RCV002842017 RCV002862014 RCV002816434 RCV002829407 RCV002857633 RCV002889123 RCV002880883 RCV002857203 RCV002862935 RCV002863653 RCV002898624 RCV002881247 RCV002852113 RCV002867991 RCV002895740 RCV002912902 RCV002872587 RCV002912647 RCV002885198 RCV002899432 RCV002894942 RCV002938149 RCV002952940 RCV001382833 RCV002976183 RCV001224012 RCV001382359 RCV001058542 RCV000457599 RCV000806654 RCV001036850 RCV000795962 RCV000816913 RCV002517311 RCV001383861 RCV001383421 RCV000686453 RCV000697843 RCV001236913 RCV001044809 RCV002519580 RCV001243311 RCV003015512 RCV003010340 RCV003016859 RCV003018225 RCV003021281 RCV003009980 RCV003033927 RCV003043024 RCV003037722 RCV003029037 RCV003023897 RCV003053791 RCV003055318 RCV003056987 RCV003055543 RCV003039923 RCV003047590 RCV003059556 RCV001383420 RCV000692104 RCV001389936 RCV001223284 RCV001854802 RCV003778673 RCV000636991 RCV001380938 RCV001859558 RCV001384490 RCV000473837 RCV000636995 RCV001859707 RCV003777371 RCV003779151 RCV003779152 RCV005220723 RCV003779153 RCV003779154 RCV005216119 RCV005216120 RCV003779155 RCV005216121 RCV003779156 RCV003779157 RCV003779158 RCV003779159 RCV005216122 RCV003779160 RCV003779161 RCV003785547 RCV003782818 RCV003782910 RCV003785277 RCV003783194 RCV003783591 RCV003783592 RCV003783593 RCV003783594 RCV003783595 RCV003790581 RCV003793185 RCV003793188 RCV003793380 RCV003779392 RCV003780009 RCV003782654 RCV003787549 RCV003787889 RCV003788028 RCV003788445 RCV003787286 RCV003785026 RCV003792448 RCV003807799 RCV003807912 RCV003807914 RCV003807915 RCV003808005 RCV003808159 RCV003806084 RCV003808275 RCV003808316 RCV003808387 RCV003808415 RCV003804430 RCV003806894 RCV003791105 RCV003791552 RCV003791609 RCV003805604 RCV003807722 RCV003803459 RCV003805799 RCV003805876 RCV003805944 RCV003803713 RCV003803920 RCV003801538 RCV003804165 RCV003804201 RCV003804252 RCV003804333 RCV003798925 RCV003799241 RCV003799416 RCV003802842 RCV003805301 RCV003803606 RCV003809133 RCV003809160 RCV003801218 RCV003796840 RCV003796931 RCV003800327 RCV003800448 RCV003808557 RCV003808673 RCV003800729 RCV003808696 RCV003808918 RCV003808930 RCV003807043 RCV003804787 RCV003801790 RCV003802027 RCV003802108 RCV003802364 RCV003802393 RCV003817703 RCV003818003 RCV003801618 RCV003801663 RCV003801701 RCV003801743 RCV003809768 RCV003810030 RCV003815297 RCV003815557 RCV003807447 RCV003807580 RCV003810554 RCV003812742 RCV003812795 RCV003812820 RCV003812836 RCV003812839 RCV003807222 RCV003807247 RCV003805167 RCV003805185 RCV003812254 RCV003810213 RCV003810218 RCV003810220 RCV003810349 RCV000552078 RCV003766166 RCV003766165 RCV001209427 RCV000813873 RCV001238421 RCV001060437 RCV001070331 RCV000687629 RCV001203973 RCV000636990 RCV001857990 RCV001058827 RCV001378303 RCV000555880 RCV000546047 RCV000525824 RCV000540957 RCV000542843 RCV002530367 RCV001381364 RCV001056739 RCV000636987 RCV002531013 RCV002532698 RCV001041101 RCV000814304 RCV000704380 RCV000636997 RCV000636994 RCV000636983 RCV000636996 RCV001208507 RCV000705120 RCV000694088 RCV000701688 RCV001868322 RCV001211577 RCV000817988 RCV002535633 RCV001207057 RCV001383424 RCV001244155 RCV000821112 RCV000806946 RCV000810929 RCV000815985 RCV000824248 RCV000801430 RCV000793218 RCV000796936 RCV000820623 RCV000823686 RCV000810414 RCV000791790 RCV000810939 RCV000823106 RCV000824247 RCV001235658 RCV001388055 RCV001853067 RCV000685655 RCV001053674 RCV001853068 RCV000702996 RCV000815718 RCV001212861 RCV001869357 RCV001389258 RCV001386103 RCV001860525 RCV001860572 RCV001860589 RCV001384273 RCV001388565 RCV001380322 RCV001231786 RCV001062455 RCV001052782 RCV001045374 RCV001063917 RCV001053194 RCV001060340 RCV001049397 RCV001068093 RCV001044834 RCV001045344 RCV001036503 RCV001046023 RCV001039641 RCV001047416 RCV001058714 RCV001058761 RCV001041071 RCV001054904 RCV001035038 RCV001063723 RCV001061596 RCV003768995 RCV001234472 RCV001243657 RCV001862596 RCV003768988 RCV001862612 RCV003769016 RCV002554821 RCV002555950 RCV001862693 RCV002555951 RCV001380942 RCV001863097 RCV001211579 RCV001222226 RCV001224982 RCV001214318 RCV001216487 RCV001203000 RCV001204615 RCV001203138 RCV001202458 RCV001211207 RCV001229340 RCV001233471 RCV001227714 RCV001235735 RCV001232419 RCV001226858 RCV001225724 RCV001237935 RCV001232256 RCV001230980 RCV001228504 RCV001231549 RCV001244300 RCV001244154 RCV001246193 RCV001245425 RCV001238408 RCV001230885 RCV001237836 RCV001382992 RCV001390760 RCV002541764
Night blindness	Pathogenic	rs1290241933	RCV001030763
Nystagmus	Pathogenic; Likely pathogenic	rs137852834, rs1057518822	RCV000415120 RCV000414899
Occipital encephalocele	Pathogenic; Likely pathogenic	rs376493409, rs539400286, rs1555202126	RCV000626966 RCV001030764 RCV000626967
Polycystic kidney disease	Pathogenic	rs137852835, rs774410421	RCV001257362 RCV001257363
Renal dysplasia and retinal aplasia	Likely pathogenic; Pathogenic	rs758991387	RCV002508962
Retinal disorder	Pathogenic; Likely pathogenic	rs746413821, rs757641323	RCV006272318 RCV006273017
Retinal dystrophy	Pathogenic; Likely pathogenic	rs62640580, rs62640570, rs137852832, rs281865192, rs137852834, rs137852835, rs587783009, rs587783017, rs370119681, rs758329611, rs2500523689, rs371525247, rs376493409, rs749439750, rs780624853, rs727503855, rs878853361, rs878853362, rs747835249, rs371496675, rs878853360, rs878853363, rs780225183, rs886042153, rs369935020, rs1006843385, rs2138259100, rs2499907989, rs2500234504, rs2500764599, rs2501504626, rs1057519165, rs763762899, rs369523378, rs1555208870, rs1272411609, rs1555225566, rs1555200648, rs764309755, rs772170760, rs753884599, rs968692633, rs1294402003, rs386834148, rs386834153, rs386834158, rs375548374, rs1592784618, rs2033943937, rs1033594764, rs2033241849, rs2033937635, rs748471942, rs1345994179, rs2037229663, rs762633090, rs774490795, rs752197734, rs2035880971, rs2038012556, rs368984997, rs2040644756, rs1412133967	RCV004815173 RCV004815174 RCV001073790 RCV001075828 RCV001075829 RCV003887847 RCV003888575 RCV001075551 RCV004816287 RCV004816293 RCV004817153 RCV004816348 RCV004816347 RCV004816349 RCV001073447 RCV001075310 RCV000225618 RCV000225531 RCV000225427 RCV000225634 RCV000225517 RCV000225409 RCV001075417 RCV004816477 RCV004818353 RCV004818354 RCV004818415 RCV003889612 RCV003889624 RCV003889635 RCV003889638 RCV004816649 RCV004816685 RCV001075395 RCV004817753 RCV004817775 RCV001074744 RCV004817859 RCV004817933 RCV001073334 RCV004817947 RCV001073923 RCV004818042 RCV001074440 RCV004814991 RCV000504936 RCV004818114 RCV003890157 RCV001074527 RCV003890170 RCV001074503 RCV001074469 RCV001074245 RCV001074470 RCV001074054 RCV001075311 RCV001075118 RCV001073239 RCV001075437 RCV001074050 RCV004813738 RCV004813739 RCV004813908
Retinitis pigmentosa	Likely pathogenic; Pathogenic	rs62638179, rs281865188, rs1295893226, rs137852832, rs281865192, rs781670422, rs758593134, rs1555216730, rs778030031, rs386834152, rs2036808766, rs2037140260	RCV001723671 RCV000678537 RCV001591911 RCV000787813 RCV000678535 RCV000504815 RCV001199655 RCV001199650 RCV003324535 RCV000787812 RCV001199654 RCV001199651
Rod-cone dystrophy	Likely pathogenic; Pathogenic	rs2500938116, rs2499528307, rs2500524015, rs778907433	RCV002292433 RCV002292434 RCV002292694 RCV001030765
See cases	Pathogenic; Likely pathogenic	rs137852834, rs758329611, rs2500736926, rs386834149, rs1039146791	RCV005887184 RCV004584364 RCV005939491 RCV002251955 RCV002252287
Senior-Loken syndrome 1	Pathogenic	rs386834152	RCV005644503
Senior-Loken syndrome 6	Likely pathogenic; Pathogenic	rs1404507934, rs1196938557, rs2035880971, rs62640581, rs62640574, rs62638179, rs281865187, rs281865188, rs62638180, rs62640578, rs281865189, rs1374014119, rs767231715, rs767426153, rs2035400071, rs775969711, rs879447211, rs779645669, rs2036977719, rs2137720951, rs868650061, rs897997464, rs2138021345, rs1277316340, rs2137423759, rs2138086844, rs587779733, rs1478582091, rs2137661795, rs763226787, rs2136911405, rs2138258171, rs2137150860, rs1219184437, rs992032116, rs935130451, rs2138259100, rs1207944612, rs886042467, rs780954447, rs773525033, rs1017496924, rs1304430926, rs2137182509, rs137852832, rs2137713030, rs281865192, rs137852834, rs137852835, rs587783009, rs587783017, rs727503853, rs768065164, rs1027368517, rs2499838601, rs2499960522, rs370119681, rs758329611, rs2500101115, rs2040047006, rs2499974587, rs797044604, rs771454167, rs371525247, rs575767207, rs376493409, rs749439750, rs539400286, rs727503855, rs863225186, rs758550675, rs878853362, rs747835249, rs371496675, rs878853360, rs2037480294, rs780225183, rs886042153, rs886042359, rs760915898, rs886043303, rs2501710854, rs758878983, rs2499957266, rs2500112760, rs1168542133, rs2038915208, rs2501054131, rs2500744133, rs2500867184, rs2500121621, rs1438792443, rs779409629, rs1184012636, rs2499744201, rs2500742395, rs2499571369, rs757641323, rs1057518822, rs1057519165, rs1060499781, rs763762899, rs369523378, rs781670422, rs965522059, rs1555220625, rs766670248, rs758593134, rs1452465499, rs1369768287, rs760540562, rs771266705, rs1170451277, rs1555225566, rs776645403, rs757609119, rs751361090, rs764309755, rs772170760, rs753884599, rs1213286417, rs561598805, rs1592833648, rs968692633, rs747138345, rs1294402003, rs778030031, rs749331348, rs1339975972, rs760415289, rs1290241933, rs1302558061, rs386834148, rs386834149, rs386834152, rs62640570, rs386834157, rs386834158, rs386834159, rs1592671672, rs375548374, rs45502896, rs1592807018, rs1221464366, rs773622064, rs2033254449, rs781310385, rs2033943937, rs1364945778, rs1033594764, rs770126103, rs2034232539, rs750073051, rs368984997, rs770175184, rs773642187, rs2036318355, rs774410421, rs2034579709, rs2036824785	RCV001335136 RCV005005228 RCV005005225 RCV002498466 RCV005008008 RCV001335142 RCV005003468 RCV002490750 RCV002505021 RCV002505022 RCV002488212 RCV002493927 RCV005005242 RCV005005926 RCV005005922 RCV005005914 RCV005005240 RCV002476720 RCV002499790 RCV005005925 RCV005005239 RCV002504643 RCV005005236 RCV002504651 RCV001535856 RCV002495869 RCV002505025 RCV002503334 RCV005002763 RCV002498073 RCV005002712 RCV005002714 RCV004796693 RCV002503494 RCV002503602 RCV002484803 RCV002507780 RCV005361778 RCV005006312 RCV005006155 RCV005006189 RCV005002725 RCV002484413 RCV005006145 RCV005006295 RCV000515339 RCV000001399 RCV000763315 RCV000763312 RCV002496228 RCV002492522 RCV002483278 RCV002492571 RCV005010896 RCV005002928 RCV005011021 RCV005002962 RCV005003531 RCV002478592 RCV005002846 RCV005002894 RCV005002892 RCV000192446 RCV001002716 RCV005003554 RCV000763310 RCV000763311 RCV002485329 RCV000763314 RCV002500629 RCV005008140 RCV005008141 RCV002500630 RCV002478827 RCV002503881 RCV002500754 RCV005003571 RCV005003038 RCV002500965 RCV002479997 RCV005008234 RCV000763313 RCV002494853 RCV003324630 RCV005012981 RCV005012982 RCV005003647 RCV005003648 RCV005003714 RCV005003707 RCV004796843 RCV005003719 RCV005013197 RCV005013192 RCV005013194 RCV005003718 RCV005003716 RCV005013196 RCV005003721 RCV005006443 RCV005010313 RCV005004147 RCV005004149 RCV005004159 RCV005004179 RCV001535842 RCV001536096 RCV000763318 RCV002497033 RCV002491001 RCV002497107 RCV002483577 RCV002491180 RCV002506412 RCV005004279 RCV000763316 RCV002483763 RCV000763317 RCV005010615 RCV005010638 RCV002485669 RCV002499260 RCV002493254 RCV001814230 RCV005004418 RCV002477791 RCV002493435 RCV002487837 RCV005012338 RCV005004442 RCV002495153 RCV005012330 RCV005004450 RCV002487758 RCV005004443 RCV005004455 RCV002508920 RCV005003445 RCV002504949 RCV002504950 RCV002483068 RCV002467561 RCV002483069 RCV000991447 RCV005012429 RCV002479201 RCV001535995 RCV005004480 RCV002481816 RCV002479228 RCV002505632 RCV002497410 RCV002497383 RCV005012517 RCV002505627 RCV005012467 RCV002497434 RCV005012543 RCV005012544 RCV002482162 RCV005012590 RCV005012637 RCV002504305 RCV002504334 RCV005012679 RCV005012700 RCV005012702 RCV005005128
Severe hydrocephalus	Pathogenic	rs137852835, rs774410421	RCV001257362 RCV001257363
Spastic ataxia	Pathogenic	rs386834157	RCV001646988
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs886042360	RCV005895577
Uterine carcinosarcoma	Likely pathogenic; Pathogenic	rs760915898	RCV005895728

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Acute myeloid leukemia	Benign	rs113132803	RCV005887840
Atypical hemolytic-uremic syndrome	Conflicting classifications of pathogenicity	rs188164241	RCV002294046
CEP290-related ciliopathies	Conflicting classifications of pathogenicity	rs199770158	RCV000509374
Cervical cancer	Likely benign; Benign	rs77623866, rs117122459, rs113132803, rs76560287	RCV005916105 RCV005887835 RCV005887842 RCV005905550
Cholangiocarcinoma	Benign	rs113132803, rs7310461	RCV005887847 RCV005904199
Clear cell carcinoma of kidney	Benign; Uncertain significance	rs113132803, rs367772168, rs192259143	RCV005887843 RCV005922781 RCV005895628
Gastric cancer	Likely benign; Benign	rs77623866, rs113132803, rs116469117	RCV005916106 RCV005887844 RCV005888393
Genetic developmental and epileptic encephalopathy	Uncertain significance; Conflicting classifications of pathogenicity	rs758453972, rs546463648	RCV005626619 RCV005626246
Hepatocellular carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs117122459, rs113132803, rs77778467, rs11104729	RCV005887833 RCV005887841 RCV005886946 RCV005894212
Lung cancer	Likely benign; Benign	rs75731877, rs113132803	RCV005917797 RCV005887848
Malignant lymphoma, large B-cell, diffuse	Benign	rs7310461	RCV005904197
Malignant tumor of esophagus	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs10717563, rs117122459, rs1326611388, rs77778467, rs377613416, rs76560287, rs78015808	RCV005867882 RCV005887834 RCV005925499 RCV005886947 RCV005894213 RCV005905549 RCV005905703
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	rs201218801	RCV005895887
Microcephaly	Conflicting classifications of pathogenicity	rs375038986	RCV001252733
Optic atrophy	Uncertain significance	rs768448895, rs373341530	RCV004816549 RCV004814002
Ovarian serous cystadenocarcinoma	Likely benign; Benign	rs77623866, rs117122459, rs113132803	RCV005916107 RCV005887837 RCV005887845
Sarcoma	Benign; Likely benign	rs117122459, rs78015808	RCV005887836 RCV005905704
Stuve-Wiedemann syndrome 2	Uncertain significance; Conflicting classifications of pathogenicity	rs1366280320, rs201988582	RCV003319494 RCV003319345
Thymoma	Benign; Likely benign; Conflicting classifications of pathogenicity	rs7960861, rs117122459, rs113132803, rs200666995, rs76460170, rs7310461	RCV005914874 RCV005887838 RCV005887846 RCV005895161 RCV005894211 RCV005904198
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs10717563, rs75731877, rs117122459, rs116469117, rs76560287, rs7310461	RCV005867883 RCV005917798 RCV005887839 RCV005888394 RCV005905551 RCV005904200

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Cerebellar Vermis	Associate	17160906, 17564967, 17564974, 17617513, 17960139, 18950740, 19764032, 20683928, 27491411, 28973549, 29146704, 30055837, 31346239, 32600475, 33432080, 37224330, 37642804
Atrioventricular Septal Defect	Associate	33093519
Autistic Disorder	Associate	20683928
Bardet Biedl Syndrome	Associate	19797195, 20177705, 21052717
Blindness	Associate	17564967, 35379979
Carcinoma Hepatocellular	Associate	35271462
Choroideremia	Associate	30374144
Ciliopathies	Associate	18950740, 19058225, 19764032, 21068128, 21866095, 26166481, 27491411, 31091803, 33105651, 34196201, 35764379, 37224330, 37371046
Cluster Headache	Associate	34196201
Color Vision Defects	Associate	37642804
Cone Dystrophy	Associate	37642804
Cone Rod Dystrophies	Associate	20805370, 33105651
Cysts	Associate	18950740
Developmental Disabilities	Associate	35019165
Disease	Associate	37371046
Down Syndrome	Associate	33093519, 35476505
Dysplastic Nevus Syndrome	Associate	21866095
Growth Disorders	Associate	33299522, 36384729
Hypogonadism	Associate	33299522, 36384729
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	17564967
Idiopathic Hypogonadotropic Hypogonadism	Associate	36384729
Immunoglobulin G4 Related Disease	Associate	20683928
Intellectual Disability	Associate	20683928, 34196201, 35019165
Kallmann Syndrome	Associate	33299522
Kidney Diseases	Associate	28973549, 29146704, 35352487
Leber Congenital Amaurosis	Associate	16909394, 17564974, 18682808, 18936139, 19764032, 19959640, 20683928, 20805370, 21153841, 21602930, 22619378, 23411883, 26626312, 27151457, 27880076, 28510626, 28966547, 29178642, 29398085, 29518907, 31091803, 31212307, 32088401, 32165824, 33105651, 33308271, 36369640, 37240262, 39189993, 39596324
Leber Congenital Amaurosis 10	Associate	35379979, 37371046
Meckel syndrome type 1	Associate	17564974, 19764032, 19777577, 21493627, 31840411, 34981460, 35352487
Meckel Syndrome Type 4	Associate	31840411, 35352487
Muscular dystrophy congenital with central nervous system involvement	Associate	20683928
Neoplasms	Associate	35271462
Neoplastic Syndromes Hereditary	Associate	18950740
Nephronophthisis familial juvenile	Associate	17617513
Nystagmus Pathologic	Associate	34196655
Oculocerebrorenal Syndrome	Associate	17564974
Refsum Disease Infantile	Associate	35456422, 39189993
Respiratory Insufficiency	Associate	20805370
Respiratory System Abnormalities	Associate	20805370
Retinal Degeneration	Associate	22619378, 27257755, 28235840, 31212307, 33507217, 35456422
Retinal Diseases	Associate	31346239, 35379979, 37371046, 38160664
Retinal Dystrophies	Associate	20683928, 26092869, 30190494, 31091803, 34196655, 37642804, 39189993, 39596324, 39766851
Retinitis Pigmentosa	Associate	30543658, 33105651, 39189993
Senior Loken Syndrome	Associate	17564967, 17617513, 19764032, 20683928, 37224330, 37642804
Signs and Symptoms Respiratory	Associate	20805370
Situs Inversus	Associate	17564967
Sjogren Larsson Syndrome	Associate	17564967
Vision Disorders	Associate	23411883, 31212307
X Linked Infantile Nystagmus	Associate	28966547