RPGRIP1L (RPGRIP1 like)

Gene

• Entrez ID: 23322
• Gene name: RPGRIP1 like
• Gene symbol: RPGRIP1L
• Synonyms (NCBI Gene): COACH3, CORS3, FTM, JBTS7, MKS5, NPHP8, PPP1R134
• Chromosome: 16
• Chromosome location: 16q12.2
• Summary: The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndr

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61747071	C>T	Risk-factor, benign, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs74957591	C>A,G,T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant
rs121918197	T>A,G	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs121918198	T>G	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs121918199	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs121918200	C>G,T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs121918201	T>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs121918202	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, genic upstream transcript variant, non coding transcript variant, stop gained
rs121918203	G>A	Likely-pathogenic, uncertain-significance, pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs121918204	G>A	Pathogenic	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs138155747	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs139067427	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs139503476	A>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Genic downstream transcript variant, downstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs140067659	T>C	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs142349647	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs145665129	G>A	Pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs145807002	G>A,C	Pathogenic	Stop gained, downstream transcript variant, genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146197239	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant
rs146925098	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, genic upstream transcript variant
rs267607020	A>G	Pathogenic	Downstream transcript variant, missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs373003699	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs386833997	T>C,G	Likely-pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs386833998	CATT>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs387906243	T>-	Pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, frameshift variant
rs749987648	TTTT>-,TTT,TTTTT	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs751128300	G>A	Likely-pathogenic, pathogenic	Stop gained, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs751444506	G>A,T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant, missense variant, non coding transcript variant
rs751477523	G>A	Pathogenic	Stop gained, genic downstream transcript variant, downstream transcript variant, coding sequence variant, non coding transcript variant
rs756821449	C>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, upstream transcript variant, genic upstream transcript variant
rs757594906	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs760952407	TTT>-,TT,TTTT	Likely-pathogenic, likely-benign	Inframe deletion, genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs766943204	A>T	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs767018622	T>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, intron variant, frameshift variant
rs778149316	->T	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs778533826	G>A,C	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, missense variant
rs778824093	AA>-	Pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant
rs779429646	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs781683750	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs786204135	C>A,T	Likely-pathogenic	Genic upstream transcript variant, synonymous variant, splice donor variant, coding sequence variant, missense variant
rs797045104	->GA	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, intron variant, coding sequence variant
rs797045918	->T	Likely-pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs863225215	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant, downstream transcript variant
rs863225216	T>-	Pathogenic	Genic downstream transcript variant, 3 prime UTR variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs863225217	A>-	Pathogenic	Genic downstream transcript variant, genic upstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs863225218	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant, genic upstream transcript variant
rs863225219	C>A	Pathogenic	Splice donor variant, genic downstream transcript variant
rs878855006	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, non coding transcript variant
rs886041824	GTCATGTGCCAACGAAATCAGAGGCACAT>-	Pathogenic	Downstream transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1037406858	G>A	Pathogenic	Genic downstream transcript variant, coding sequence variant, downstream transcript variant, stop gained, non coding transcript variant
rs1057520162	C>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1057520790	C>T	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1060501006	->A,AA	Uncertain-significance, pathogenic	Genic downstream transcript variant, non coding transcript variant, frameshift variant, genic upstream transcript variant, coding sequence variant
rs1156977888	C>A,T	Pathogenic	Genic downstream transcript variant, downstream transcript variant, non coding transcript variant, stop gained, coding sequence variant, missense variant
rs1182447072	A>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs1277577195	T>A	Uncertain-significance, pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1326042797	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs1470967742	TT>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, frameshift variant
rs1555616593	G>A	Pathogenic	Stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1567800920	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, stop gained
rs1598375579	G>A	Pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1598375731	T>C	Likely-pathogenic	Genic upstream transcript variant, genic downstream transcript variant, splice acceptor variant
rs1598411105	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019863	hsa-miR-375	Microarray	20215506
MIRT026488	hsa-miR-192-5p	Microarray	19074876
MIRT036318	hsa-miR-1229-3p	CLASH	23622248
MIRT1315622	hsa-miR-1205	CLIP-seq
MIRT1315623	hsa-miR-149	CLIP-seq
MIRT1315624	hsa-miR-217	CLIP-seq
MIRT1315625	hsa-miR-3064-5p	CLIP-seq
MIRT1315626	hsa-miR-3126-3p	CLIP-seq
MIRT1315627	hsa-miR-3613-3p	CLIP-seq
MIRT1315628	hsa-miR-3653	CLIP-seq
MIRT1315629	hsa-miR-3658	CLIP-seq
MIRT1315630	hsa-miR-4418	CLIP-seq
MIRT1315631	hsa-miR-4687-3p	CLIP-seq
MIRT1315632	hsa-miR-4794	CLIP-seq
MIRT1315633	hsa-miR-509-3-5p	CLIP-seq
MIRT1315634	hsa-miR-509-5p	CLIP-seq
MIRT1315635	hsa-miR-1253	CLIP-seq
MIRT1315636	hsa-miR-1321	CLIP-seq
MIRT1315637	hsa-miR-1343	CLIP-seq
MIRT1315638	hsa-miR-140-3p	CLIP-seq
MIRT1315639	hsa-miR-22	CLIP-seq
MIRT1315640	hsa-miR-2278	CLIP-seq
MIRT1315641	hsa-miR-2964a-3p	CLIP-seq
MIRT1315642	hsa-miR-3121-5p	CLIP-seq
MIRT1315643	hsa-miR-3125	CLIP-seq
MIRT1315644	hsa-miR-3140-3p	CLIP-seq
MIRT1315645	hsa-miR-3173-3p	CLIP-seq
MIRT1315646	hsa-miR-3180-5p	CLIP-seq
MIRT1315647	hsa-miR-3185	CLIP-seq
MIRT1315648	hsa-miR-3192	CLIP-seq
MIRT1315649	hsa-miR-33a	CLIP-seq
MIRT1315650	hsa-miR-33b	CLIP-seq
MIRT1315651	hsa-miR-34a	CLIP-seq
MIRT1315652	hsa-miR-34c-5p	CLIP-seq
MIRT1315653	hsa-miR-3662	CLIP-seq
MIRT1315654	hsa-miR-3916	CLIP-seq
MIRT1315655	hsa-miR-3928	CLIP-seq
MIRT1315656	hsa-miR-4270	CLIP-seq
MIRT1315657	hsa-miR-4441	CLIP-seq
MIRT1315658	hsa-miR-449a	CLIP-seq
MIRT1315659	hsa-miR-449b	CLIP-seq
MIRT1315660	hsa-miR-450b-5p	CLIP-seq
MIRT1315661	hsa-miR-4528	CLIP-seq
MIRT1315662	hsa-miR-4668-3p	CLIP-seq
MIRT1315663	hsa-miR-4709-3p	CLIP-seq
MIRT1315664	hsa-miR-4712-3p	CLIP-seq
MIRT1315665	hsa-miR-4739	CLIP-seq
MIRT1315666	hsa-miR-4756-5p	CLIP-seq
MIRT1315667	hsa-miR-4779	CLIP-seq
MIRT1315668	hsa-miR-4789-5p	CLIP-seq
MIRT1315669	hsa-miR-500a	CLIP-seq
MIRT1315670	hsa-miR-501-5p	CLIP-seq
MIRT1315671	hsa-miR-507	CLIP-seq
MIRT1315672	hsa-miR-520a-5p	CLIP-seq
MIRT1315673	hsa-miR-525-5p	CLIP-seq
MIRT1315674	hsa-miR-548c-3p	CLIP-seq
MIRT1315675	hsa-miR-557	CLIP-seq
MIRT1920869	hsa-miR-3074-3p	CLIP-seq
MIRT1920870	hsa-miR-548al	CLIP-seq
MIRT1920871	hsa-miR-889	CLIP-seq
MIRT1920869	hsa-miR-3074-3p	CLIP-seq
MIRT1920870	hsa-miR-548al	CLIP-seq
MIRT1920871	hsa-miR-889	CLIP-seq
MIRT1315636	hsa-miR-1321	CLIP-seq
MIRT2093905	hsa-miR-3163	CLIP-seq
MIRT2093906	hsa-miR-3925-3p	CLIP-seq
MIRT1315656	hsa-miR-4270	CLIP-seq
MIRT2093907	hsa-miR-4436a	CLIP-seq
MIRT1315657	hsa-miR-4441	CLIP-seq
MIRT1315665	hsa-miR-4739	CLIP-seq
MIRT1315666	hsa-miR-4756-5p	CLIP-seq
MIRT2093908	hsa-miR-766	CLIP-seq
MIRT2318399	hsa-miR-4504	CLIP-seq
MIRT1315643	hsa-miR-3125	CLIP-seq
MIRT2093905	hsa-miR-3163	CLIP-seq
MIRT1315646	hsa-miR-3180-5p	CLIP-seq
MIRT1315654	hsa-miR-3916	CLIP-seq
MIRT2093906	hsa-miR-3925-3p	CLIP-seq
MIRT1315655	hsa-miR-3928	CLIP-seq
MIRT2318400	hsa-miR-425	CLIP-seq
MIRT2318401	hsa-miR-4517	CLIP-seq
MIRT2318402	hsa-miR-4645-3p	CLIP-seq
MIRT1315672	hsa-miR-520a-5p	CLIP-seq
MIRT1315673	hsa-miR-525-5p	CLIP-seq
MIRT2093908	hsa-miR-766	CLIP-seq
MIRT1315627	hsa-miR-3613-3p	CLIP-seq
MIRT1315653	hsa-miR-3662	CLIP-seq
MIRT2689926	hsa-miR-3926	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001736	Process	Establishment of planar polarity	IEA
GO:0001822	Process	Kidney development	IEA
GO:0001889	Process	Liver development	IEA
GO:0005515	Function	Protein binding	IPI	17558407, 19430481, 21565611, 27173435
GO:0005737	Component	Cytoplasm	IDA	17558409
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	17558409, 21399614
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IDA
GO:0005911	Component	Cell-cell junction	IDA	21565611
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005929	Component	Cilium	IDA	17558409
GO:0005929	Component	Cilium	IEA
GO:0005930	Component	Axoneme	IDA	17558409
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007368	Process	Determination of left/right symmetry	IEA
GO:0007420	Process	Brain development	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0021532	Process	Neural tube patterning	IEA
GO:0021537	Process	Telencephalon development	IEA
GO:0021549	Process	Cerebellum development	IEA
GO:0021670	Process	Lateral ventricle development	IEA
GO:0021772	Process	Olfactory bulb development	IEA
GO:0022038	Process	Corpus callosum development	IEA
GO:0031870	Function	Thromboxane A2 receptor binding	IBA
GO:0031870	Function	Thromboxane A2 receptor binding	IPI	19464661
GO:0032391	Component	Photoreceptor connecting cilium	IBA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035115	Process	Embryonic forelimb morphogenesis	IEA
GO:0035116	Process	Embryonic hindlimb morphogenesis	IEA
GO:0035869	Component	Ciliary transition zone	IDA	26595381
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036064	Component	Ciliary basal body	IDA	17558409
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043010	Process	Camera-type eye development	IEA
GO:0043584	Process	Nose development	IEA
GO:0045744	Process	Negative regulation of G protein-coupled receptor signaling pathway	IDA	19464661
GO:0046548	Process	Retinal rod cell development	IBA
GO:0060039	Process	Pericardium development	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060322	Process	Head development	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0090102	Process	Cochlea development	IEA
GO:1905515	Process	Non-motile cilium assembly	IBA
GO:1905515	Process	Non-motile cilium assembly	IEA

Other IDs

• MIM: 610937
• HGNC: 29168
• e!Ensembl: ENSG00000103494

Protein

• UniProt ID: Q68CZ1
• Protein name: Protein fantom (Nephrocystin-8) (RPGR-interacting protein 1-like protein) (RPGRIP1-like protein)
• Protein function: Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R) (PubMed:19464661). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the le
• PDB: 2YRB
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11618	C2-C2_1	597 → 738	First C2 domain of RPGR-interacting protein 1	Domain
  PF00168	C2	790 → 899	C2 domain	Domain
  PF18111	RPGR1_C	1145 → 1308	Retinitis pigmentosa G-protein regulator interacting C-terminal	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitously expressed with relatively high level of expression in hypothalamus and islet. During early development, expressed in multiple organs including brain, eye, forelimb and kidney. {ECO:0000269|PubMed:17434869, ECO:0000269|PubM
• Sequence:

  MSGPTDETAGDLPVKDTGLNLFGMGGLQETSTTRTMKSRQAVSRVSREELEDRFLRLHDE
  NILLKQHARKQEDKIKRMATKLIRLVNDKKRYERVGGGPKRLGRDVEMEEMIEQLQEKVH
  ELEKQNETLKNRLISAKQQLQTQGYRQTPYNNVQSRINTGRRKANENAGLQECPRKGIKF
  QDADVAETPHPMFTKYGNSLLEEARGEIRNLENVIQSQRGQIEELEHLAEILKTQLRRKE
  NEIELSLLQLREQQATDQRSNIRDNVEMIKLHKQLVEKSNALSAMEGKFIQLQEKQRTLR
  ISHDALMANGDELNMQLKEQRLKCCSLEKQLHSMKFSERRIEELQDRINDLEKERELLKE
  NYDKLYDSAFSAAHEEQWKLKEQQLKVQIAQLETALKSDLTDKTEILDRLKTERDQNEKL
  VQENRELQLQYLEQKQQLDELKKRIKLYNQENDINADELSEALLLIKAQKEQKNGDLSFL
  VKVDSEINKDLERSMRELQATHAETVQELEKTRNMLIMQHKINKDYQMEVEAVTRKMENL
  QQDYELKVEQYVHLLDIRAARIHKLEAQLKDIAYGTKQYKFKPEIMPDDSVDEFDETIHL
  ERGENLFEIHINKVTFSSEVLQASGDKEPVTFCTYAFYDFELQTTPVVRGLHPEYNFTSQ
  YLVHVNDLFLQYIQKNTITLEVHQAYSTEYETIAACQLKFHEILEKSGRIFCTASLIGTK
  GDIPNFGTVEYWFRLRVPMDQAIRLYRERAKALGYITSNFKGPEHMQSLSQQAPKTAQLS
  STDSTDGNLNELHITIRCCNHLQSRASHLQPHPYVVYKFFDFADHDTAIIPSSNDPQFDD
  HMYFPVPMNMDLDRYLKSESLSFYVFDDSDTQENIYIGKVNVPLISLAHDRCISGIFELT
  DHQKHPAGTIHVILKWKFAYLPPSGSITTEDLGNFIRSEEPEVVQRLPPASSVSTLVLAP
  RPKPRQRLTPVDKKVSFVDIMPHQSDETSPPPEDRKEISPEVEHIPEIEINMLTVPHVPK
  VSQEGSVDEVKENTEKMQQGKDDVSLLSEGQLAEQSLASSEDETEITEDLEPEVEEDMSA
  SDSDDCIIPGPISKNIKQSLALSPGLGCSSAISAHCNFRLPGSSDFPASASQVDGITGAC
  HHTQPSEKIRIEIIALSLNDSQVTMDDTIQRLFVECRFYSLPAEETPVSLPKPKSGQWVY
  YNYSNVIYVDKENNKAKRDILKAILQKQEMPNRSLRFTVVSDPPEDEQDLECEDIGVAHV
  DLADMFQEGRDLIEQNIDVFDARADGEGIGKLRVTVEALHALQSVYKQYRDDLEA

• Sequence length: 1315

Pathways

Reactome:

Hedgehog 'off' state
Anchoring of the basal body to the plasma membrane

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of prenatal development or birth	Likely pathogenic; Pathogenic	rs121918204	RCV001813927
Bardet-Biedl syndrome	Likely pathogenic	rs1168346867	RCV003222507
Ciliopathy	Pathogenic	rs1567902051	RCV005250105
COACH syndrome 1	Likely pathogenic; Pathogenic	rs121918203, rs121918204, rs1200131247	RCV000762961 RCV000762962 RCV001334834
COACH syndrome 3	Likely pathogenic; Pathogenic	rs767686118, rs1376397728, rs2150964205, rs1966511029, rs763685772, rs201081228, rs1676833644, rs776941281, rs1970017927, rs2151379380, rs750076702, rs2151236867, rs2151198563, rs2151125946, rs746792129, rs990678342, rs564992297, rs2151150644, rs772028612, rs200448428, rs2151126163, rs145807002, rs2151060257, rs969617857, rs2151056579, rs121918198, rs121918199, rs121918203, rs121918204, rs145665129, rs267607020, rs778149316, rs786204135, rs2544100125, rs2150974573, rs1259684278, rs749464264, rs1964000214, rs797045104, rs778533826, rs756821449, rs1214012000, rs771226563, rs2544106771, rs1050777749, rs746227955, rs778824093, rs757594906, rs749987648, rs1277577195, rs1037406858, rs1470967742, rs751444506, rs542206983, rs1381634873, rs1306595038, rs267604575, rs745413543, rs993394322, rs771129715, rs1964549329, rs1456208953, rs1966902456, rs1966218490	RCV002479591 RCV005014517 RCV005014524 RCV005005909 RCV005005917 RCV002476728 RCV005014532 RCV002476726 RCV005014533 RCV005014530 RCV005005957 RCV005008403 RCV005006109 RCV005016915 RCV005016920 RCV002484796 RCV002497860 RCV005016936 RCV005016943 RCV005008350 RCV005016950 RCV005016953 RCV005017020 RCV005361897 RCV002498050 RCV002482812 RCV005016221 RCV005007803 RCV005007804 RCV000001134 RCV000001135 RCV002498833 RCV001536099 RCV005010973 RCV005010988 RCV005021616 RCV005021638 RCV005019233 RCV001536089 RCV002492927 RCV005008228 RCV005013191 RCV005014972 RCV005014974 RCV005013198 RCV005015087 RCV005010352 RCV002483812 RCV002499228 RCV002507274 RCV002485914 RCV002485971 RCV005012376 RCV005021195 RCV005021379 RCV002482005 RCV005012528 RCV002479353 RCV002505659 RCV005016358 RCV005012592 RCV005021492 RCV005012620 RCV005021496 RCV002497792 RCV002504314 RCV002504412
Joubert syndrome	Likely pathogenic; Pathogenic	rs767686118, rs1376397728, rs2151325787, rs2150964205, rs2151060082, rs779776673, rs1966511029, rs758547965, rs1253568005, rs763685772, rs201081228, rs2151126581, rs1676833644, rs776941281, rs1967512180, rs2151198227, rs1970017927, rs2151318201, rs2151318273, rs1283508618, rs1970421631, rs2151351169, rs2151352275, rs2151379380, rs1200063571, rs750076702, rs1970430433, rs2151125463, rs863225215, rs751020468, rs2151236867, rs771058410, rs2151198563, rs2151325186, rs2150938444, rs2151125946, rs2151352672, rs746451396, rs2150964195, rs746792129, rs2151317974, rs761435025, rs2151325681, rs2150964847, rs2151058791, rs2151156278, rs2151060021, rs990678342, rs760952407, rs1353551542, rs2151318564, rs2151157545, rs564992297, rs2151150644, rs2151102253, rs772028612, rs200448428, rs2151317483, rs754766543, rs750917538, rs1006433886, rs2151126163, rs2151157384, rs2151353922, rs2151040565, rs145807002, rs753075262, rs2151245549, rs2151060257, rs969617857, rs2151056579, rs1968112121, rs121918197, rs121918198, rs121918199, rs121918200, rs121918201, rs121918202, rs121918203, rs121918204, rs145665129, rs778149316, rs786204135, rs898062661, rs2544710305, rs2544109431, rs2544100125, rs2150974573, rs1259684278, rs749464264, rs1444726635, rs1386334644, rs1964000214, rs1231568634, rs970695621, rs2544401345, rs1970129424, rs797045104, rs2544752143, rs2544100152, rs1966510483, rs2543965279, rs866067386, rs2544514428, rs2544706912, rs987737814, rs1483413866, rs2543966207, rs2544203421, rs2544102829, rs778533826, rs863225218, rs863225217, rs2544205707, rs2544398828, rs2544207377, rs2544638776, rs2544708386, rs2544707873, rs1965977480, rs2543791417, rs2544310470, rs878855006, rs886041824, rs756821449, rs2543788281, rs2544640942, rs1341026212, rs1241312606, rs1214012000, rs1598241401, rs2544154546, rs2543820049, rs1970132052, rs2544754244, rs770414663, rs752266252, rs2544213172, rs1567847278, rs1200131247, rs199885005, rs1349804201, rs2544706126, rs2544400695, rs2543721040, rs2544153133, rs2544658236, rs2544046250, rs771226563, rs747612183, rs2544106771, rs2543989370, rs2544473384, rs776922546, rs1970024714, rs2544205607, rs886052096, rs2543791714, rs1050777749, rs2544492460, rs2544810360, rs1353809695, rs2544308444, rs2544640636, rs2544279628, rs2544103122, rs1263265387, rs2544205331, rs2544701917, rs2544300648, rs2544102925, rs2544263394, rs2544398205, rs2544153711, rs2544491095, rs2544154688, rs2544044964, rs2544040196, rs1057520162, rs1057520790, rs778824093, rs1060501006, rs751128300, rs1326042797, rs767018622, rs1182447072, rs757594906, rs749987648, rs1277577195, rs1567902051, rs1037406858, rs751477523, rs1156977888, rs1470967742, rs1598375579, rs751444506, rs781683750, rs1598375731, rs386833998, rs1966212821, rs1966507642, rs542206983, rs1381634873, rs1968731636, rs1964549409, rs1306595038, rs267604575, rs770291169, rs745413543, rs993394322, rs1964001995, rs1964561986, rs771129715, rs771264753, rs1967510088, rs547189939, rs546150528, rs772900011, rs1964549329, rs1456208953, rs199975230, rs1966902456, rs1970021137, rs1966516920	RCV001975234 RCV001378777 RCV001376781 RCV001381323 RCV001380166 RCV001380378 RCV001380723 RCV001383982 RCV001389805 RCV001383567 RCV001385484 RCV001385026 RCV001384117 RCV001384296 RCV001382134 RCV001382008 RCV001384638 RCV001380033 RCV001380860 RCV001381086 RCV001389213 RCV001381374 RCV001387377 RCV001383483 RCV001386466 RCV003771669 RCV002568267 RCV005213592 RCV001900860 RCV001898572 RCV002035891 RCV001897665 RCV001904296 RCV002028453 RCV001921028 RCV001953061 RCV001935995 RCV002010577 RCV001881932 RCV001992779 RCV001908899 RCV001964441 RCV001901748 RCV002029159 RCV001921484 RCV001898438 RCV001928751 RCV002037892 RCV002002384 RCV002002417 RCV001988174 RCV002035268 RCV001993240 RCV001993376 RCV001939551 RCV001942013 RCV001994321 RCV002012385 RCV001941582 RCV002022295 RCV002032934 RCV001951058 RCV001972362 RCV001946665 RCV001932933 RCV001972569 RCV002005878 RCV001951334 RCV002033536 RCV002003648 RCV002018582 RCV001992682 RCV001385849 RCV000689745 RCV001067857 RCV005606630 RCV001042174 RCV003764506 RCV001059320 RCV000824619 RCV001382825 RCV000168109 RCV000168110 RCV003064336 RCV003041255 RCV003087848 RCV003072457 RCV003092388 RCV002616136 RCV002651006 RCV002629315 RCV003108351 RCV002576155 RCV002586702 RCV002715940 RCV002756620 RCV002756621 RCV001209117 RCV002824041 RCV002824692 RCV002851136 RCV002851878 RCV002838207 RCV002875679 RCV002847294 RCV002875788 RCV002847855 RCV002880393 RCV002999222 RCV002985627 RCV001853237 RCV001853236 RCV003765304 RCV003025517 RCV003006083 RCV003012502 RCV002991349 RCV003028641 RCV003045681 RCV003027534 RCV003059450 RCV003044421 RCV003036559 RCV003044380 RCV000229421 RCV001223286 RCV001381441 RCV000797386 RCV003785479 RCV003785523 RCV003785704 RCV003782257 RCV003795966 RCV003782798 RCV003789555 RCV003795640 RCV003797716 RCV003793248 RCV003782619 RCV003782662 RCV003788615 RCV003788796 RCV003792747 RCV003786365 RCV003786535 RCV003791852 RCV003808158 RCV003808281 RCV003791769 RCV003799765 RCV003805527 RCV003807711 RCV003805953 RCV003804313 RCV003798673 RCV003790813 RCV003799202 RCV003797513 RCV003805302 RCV003808549 RCV003808560 RCV003808624 RCV003800787 RCV003808931 RCV003807181 RCV003809291 RCV003801792 RCV003810120 RCV003802210 RCV003813482 RCV003813499 RCV003813698 RCV003815279 RCV003815386 RCV003815488 RCV003815565 RCV003813054 RCV003813088 RCV003813102 RCV003813176 RCV003807422 RCV003802507 RCV003805048 RCV003812272 RCV003810397 RCV001835792 RCV001378534 RCV000459856 RCV000474386 RCV000697158 RCV003767253 RCV000609113 RCV000636955 RCV000636961 RCV000690667 RCV000812456 RCV001212194 RCV003768172 RCV001855682 RCV001869036 RCV000807403 RCV000817193 RCV000822479 RCV000793552 RCV000793385 RCV000799949 RCV000819951 RCV002513694 RCV001051994 RCV001035469 RCV001047127 RCV001052996 RCV001055818 RCV001069493 RCV001042321 RCV001037424 RCV001058076 RCV001070906 RCV001220267 RCV001863136 RCV001241219 RCV001225531 RCV001220992 RCV001220942 RCV001214686 RCV001218545 RCV001219230 RCV001221261 RCV001207419 RCV001213020 RCV001202999 RCV001231979 RCV001226253 RCV001231692 RCV001225530 RCV001243229
Joubert syndrome 7	Likely pathogenic; Pathogenic	rs767686118, rs1376397728, rs2151325787, rs2150964205, rs1966511029, rs763685772, rs201081228, rs1676833644, rs776941281, rs1970017927, rs2151379380, rs750076702, rs2151236867, rs2151198563, rs2151125946, rs746792129, rs990678342, rs564992297, rs2151150644, rs772028612, rs200448428, rs750917538, rs2151126163, rs145807002, rs2151060257, rs969617857, rs2151056579, rs121918197, rs121918198, rs121918199, rs121918200, rs121918203, rs121918204, rs387906243, rs145665129, rs267607020, rs778149316, rs786204135, rs2544100125, rs2150974573, rs1259684278, rs749464264, rs1964000214, rs797045104, rs797045918, rs863225219, rs778533826, rs863225215, rs863225216, rs863225218, rs863225217, rs2544705725, rs756821449, rs2544039763, rs1214012000, rs771226563, rs2544106771, rs1050777749, rs746227955, rs778824093, rs1555616593, rs757594906, rs749987648, rs1277577195, rs1037406858, rs1567800920, rs751477523, rs1470967742, rs751444506, rs542206983, rs1381634873, rs1306595038, rs267604575, rs770291169, rs745413543, rs993394322, rs771129715, rs1964549329, rs1456208953, rs1966902456, rs1966218490	RCV002479591 RCV005014517 RCV002471102 RCV005014524 RCV005005909 RCV005005917 RCV002476728 RCV005014532 RCV002476726 RCV005014533 RCV005014530 RCV003127988 RCV005008403 RCV005006109 RCV005016915 RCV005016920 RCV002484796 RCV002497860 RCV005016936 RCV005016943 RCV005008350 RCV004798936 RCV005016950 RCV005016953 RCV005017020 RCV005361897 RCV002498050 RCV000001123 RCV000001124 RCV000001125 RCV000001126 RCV000762961 RCV000001131 RCV000001132 RCV000201645 RCV000201757 RCV000201673 RCV001536099 RCV005010973 RCV005010988 RCV005021616 RCV004594671 RCV005019233 RCV000190621 RCV000195016 RCV000201765 RCV000201661 RCV000201526 RCV000201652 RCV000201573 RCV000201745 RCV002790012 RCV005008228 RCV003340857 RCV005013191 RCV005014972 RCV005014974 RCV005013198 RCV005015087 RCV005010352 RCV000505609 RCV002483812 RCV002499228 RCV002507274 RCV002485914 RCV002485971 RCV000785895 RCV005231360 RCV005012376 RCV005021195 RCV005021379 RCV002482005 RCV005012528 RCV002479353 RCV002505659 RCV005016358 RCV001199009 RCV001199008 RCV001198756 RCV005012620 RCV005021496 RCV002497792 RCV002504314 RCV002504412
Joubert syndrome and related disorders	Likely pathogenic; Pathogenic	rs767686118, rs753075262, rs121918198, rs121918199, rs797045104, rs2544640834, rs751128300, rs751444506, rs1200131247, rs542206983, rs745413543, rs993394322	RCV002469441 RCV003226520 RCV003155007 RCV003398409 RCV002282025 RCV003226809 RCV002509406 RCV002282368 RCV003230625 RCV003323789 RCV002509625 RCV002265959
Leber congenital amaurosis	Likely pathogenic	rs1236687801	RCV003389611
Meckel syndrome, type 5	Likely pathogenic; Pathogenic	rs767686118, rs1966500186, rs1376397728, rs2150964205, rs1966511029, rs763685772, rs201081228, rs1676833644, rs776941281, rs1970017927, rs2151379380, rs750076702, rs1970430433, rs2151236867, rs2151198563, rs2151125946, rs746792129, rs990678342, rs564992297, rs2151150644, rs772028612, rs200448428, rs2151126163, rs145807002, rs2151060257, rs2151056579, rs121918198, rs121918199, rs121918201, rs121918202, rs121918203, rs121918204, rs145665129, rs1211499888, rs778149316, rs786204135, rs2544100125, rs2150974573, rs1259684278, rs749464264, rs1964000214, rs797045104, rs778533826, rs756821449, rs1214012000, rs771226563, rs2544106771, rs1050777749, rs746227955, rs778824093, rs757594906, rs749987648, rs1277577195, rs1037406858, rs1470967742, rs751444506, rs386833998, rs542206983, rs1381634873, rs1306595038, rs267604575, rs745413543, rs993394322, rs771129715, rs1964549329, rs1456208953, rs1966902456, rs1966218490	RCV002479591 RCV001334832 RCV005014517 RCV005014524 RCV005005909 RCV005005917 RCV002476728 RCV005014532 RCV002476726 RCV005014533 RCV005014530 RCV001543698 RCV001543697 RCV005008403 RCV005006109 RCV005016915 RCV005016920 RCV002484796 RCV002497860 RCV005016936 RCV005016943 RCV005008350 RCV005016950 RCV005016953 RCV005017020 RCV002498050 RCV002482812 RCV005016221 RCV000001127 RCV000001128 RCV000033207 RCV000762962 RCV002490288 RCV002269807 RCV002498833 RCV001536099 RCV005010973 RCV005010988 RCV005021616 RCV005021638 RCV005019233 RCV001536089 RCV002492927 RCV005008228 RCV005013191 RCV005014972 RCV005014974 RCV005013198 RCV005015087 RCV005010352 RCV002483812 RCV002499228 RCV002507274 RCV002485914 RCV002485971 RCV005012376 RCV005021195 RCV000049975 RCV005021379 RCV002482005 RCV005012528 RCV002479353 RCV002505659 RCV005016358 RCV005012592 RCV005021492 RCV005012620 RCV005021496 RCV002497792 RCV002504314 RCV002504412
Meckel-Gruber syndrome	Likely pathogenic; Pathogenic	rs767686118, rs1376397728, rs2151325787, rs2150964205, rs2151060082, rs779776673, rs1966511029, rs758547965, rs1253568005, rs763685772, rs201081228, rs2151126581, rs1676833644, rs776941281, rs1967512180, rs2151198227, rs1970017927, rs2151318201, rs2151318273, rs1283508618, rs1970421631, rs2151351169, rs2151352275, rs2151379380, rs1200063571, rs750076702, rs1970430433, rs2151125463, rs863225215, rs751020468, rs2151236867, rs771058410, rs2151198563, rs2151325186, rs2150938444, rs2151125946, rs2151352672, rs746451396, rs2150964195, rs746792129, rs2151317974, rs761435025, rs2151325681, rs2150964847, rs2151058791, rs2151156278, rs2151060021, rs990678342, rs760952407, rs1353551542, rs2151318564, rs2151157545, rs564992297, rs2151150644, rs2151102253, rs772028612, rs200448428, rs2151317483, rs754766543, rs750917538, rs1006433886, rs2151126163, rs2151157384, rs2151353922, rs2151040565, rs145807002, rs753075262, rs2151245549, rs2151060257, rs969617857, rs2151056579, rs1968112121, rs121918197, rs121918198, rs121918199, rs121918201, rs121918202, rs121918203, rs121918204, rs145665129, rs778149316, rs786204135, rs898062661, rs2544710305, rs2544109431, rs2544100125, rs2150974573, rs1259684278, rs749464264, rs1444726635, rs1386334644, rs1964000214, rs1231568634, rs970695621, rs2544401345, rs1970129424, rs797045104, rs2544752143, rs2544100152, rs1966510483, rs2543965279, rs866067386, rs2544514428, rs2544706912, rs987737814, rs1483413866, rs2543966207, rs2544203421, rs2544102829, rs778533826, rs863225218, rs863225217, rs2544205707, rs2544398828, rs2544207377, rs2544638776, rs2544708386, rs2544707873, rs1965977480, rs2543791417, rs2544310470, rs878855006, rs886041824, rs756821449, rs2543788281, rs2544640942, rs1341026212, rs1241312606, rs1214012000, rs1598241401, rs2544154546, rs2543820049, rs1970132052, rs2544754244, rs770414663, rs752266252, rs2544213172, rs1567847278, rs1200131247, rs199885005, rs1349804201, rs2544706126, rs2544400695, rs2543721040, rs2544153133, rs2544658236, rs2544046250, rs771226563, rs747612183, rs2544106771, rs2543989370, rs2544473384, rs776922546, rs1970024714, rs2544205607, rs886052096, rs2543791714, rs1050777749, rs2544492460, rs2544810360, rs1353809695, rs2544308444, rs2544640636, rs2544279628, rs2544103122, rs1263265387, rs2544205331, rs2544701917, rs2544300648, rs2544102925, rs2544263394, rs2544398205, rs2544153711, rs2544491095, rs2544154688, rs2544044964, rs2544040196, rs1057520790, rs778824093, rs1060501006, rs751128300, rs1326042797, rs1182447072, rs757594906, rs749987648, rs1277577195, rs1567902051, rs1037406858, rs751477523, rs1156977888, rs1470967742, rs1598375579, rs751444506, rs781683750, rs1598375731, rs386833998, rs1966212821, rs1966507642, rs542206983, rs1381634873, rs1968731636, rs1964549409, rs1306595038, rs267604575, rs770291169, rs745413543, rs993394322, rs1964001995, rs1964561986, rs771129715, rs771264753, rs1967510088, rs547189939, rs546150528, rs772900011, rs1964549329, rs1456208953, rs199975230, rs1966902456, rs1970021137, rs1966516920	RCV001975234 RCV001378777 RCV001376781 RCV001381323 RCV001380166 RCV001380378 RCV001380723 RCV001383982 RCV001389805 RCV001383567 RCV001385484 RCV001385026 RCV001384117 RCV001384296 RCV001382134 RCV001382008 RCV001384638 RCV001380033 RCV001380860 RCV001381086 RCV001389213 RCV001381374 RCV001387377 RCV001383483 RCV001386466 RCV003771669 RCV002568267 RCV005213592 RCV001900860 RCV001898572 RCV002035891 RCV001897665 RCV001904296 RCV002028453 RCV001921028 RCV001953061 RCV001935995 RCV002010577 RCV001881932 RCV001992779 RCV001908899 RCV001964441 RCV001901748 RCV002029159 RCV001921484 RCV001898438 RCV001928751 RCV002037892 RCV002002384 RCV002002417 RCV001988174 RCV002035268 RCV001993240 RCV001993376 RCV001939551 RCV001942013 RCV001994321 RCV002012385 RCV001941582 RCV002022295 RCV002032934 RCV001951058 RCV001972362 RCV001946665 RCV001932933 RCV001972569 RCV002005878 RCV001951334 RCV002033536 RCV002003648 RCV002018582 RCV001992682 RCV001385849 RCV000689745 RCV001067857 RCV001042174 RCV003764506 RCV001059320 RCV000824619 RCV001382825 RCV000168109 RCV001378306 RCV003064336 RCV003041255 RCV003087848 RCV003072457 RCV003092388 RCV002616136 RCV002651006 RCV002629315 RCV003108351 RCV002576155 RCV002586702 RCV002715940 RCV002756620 RCV002756621 RCV001209117 RCV002824041 RCV002824692 RCV002851136 RCV002851878 RCV002838207 RCV002875679 RCV002847294 RCV002875788 RCV002847855 RCV002880393 RCV002999222 RCV002985627 RCV001853237 RCV001853236 RCV003765304 RCV003025517 RCV003006083 RCV003012502 RCV002991349 RCV003028641 RCV003045681 RCV003027534 RCV003059450 RCV003044421 RCV003036559 RCV003044380 RCV001388952 RCV001223286 RCV001381441 RCV000797386 RCV003785479 RCV003785523 RCV003785704 RCV003782257 RCV003795966 RCV003782798 RCV003789555 RCV003795640 RCV003797716 RCV003793248 RCV003782619 RCV003782662 RCV003788615 RCV003788796 RCV003792747 RCV003786365 RCV003786535 RCV003791852 RCV003808158 RCV003808281 RCV003791769 RCV003799765 RCV003805527 RCV003807711 RCV003805953 RCV003804313 RCV003798673 RCV003790813 RCV003799202 RCV003797513 RCV003805302 RCV003808549 RCV003808560 RCV003808624 RCV003800787 RCV003808931 RCV003807181 RCV003809291 RCV003801792 RCV003810120 RCV003802210 RCV003813482 RCV003813499 RCV003813698 RCV003815279 RCV003815386 RCV003815488 RCV003815565 RCV003813054 RCV003813088 RCV003813102 RCV003813176 RCV003807422 RCV003802507 RCV003805048 RCV003812272 RCV003810397 RCV001378534 RCV000459856 RCV000474386 RCV000697158 RCV003767253 RCV000636955 RCV000636961 RCV000690667 RCV000812456 RCV001212194 RCV003768172 RCV001855682 RCV001869036 RCV000807403 RCV000817193 RCV000822479 RCV000793552 RCV000793385 RCV000799949 RCV000819951 RCV002513694 RCV001051994 RCV001035469 RCV001047127 RCV001052996 RCV001055818 RCV001069493 RCV001042321 RCV001037424 RCV001058076 RCV001070906 RCV001220267 RCV001863136 RCV001241219 RCV001225531 RCV001220992 RCV001220942 RCV001214686 RCV001218545 RCV001219230 RCV001221261 RCV001207419 RCV001213020 RCV001202999 RCV001231979 RCV001226253 RCV001231692 RCV001225530 RCV001243229
ROGRIP1L-related disorder	Likely pathogenic; Pathogenic	rs749464264	RCV006262017
RPGRIP1L-related disorder	Likely pathogenic; Pathogenic	rs1966511029, rs1283508618, rs990678342, rs145807002, rs121918197, rs121918198, rs121918203, rs778149316, rs898062661, rs2544109431, rs797045104, rs778533826, rs756821449, rs2544048142, rs2151056579, rs746227955, rs1057520162, rs1060501006, rs1326042797, rs757594906, rs1277577195, rs1037406858, rs751444506, rs781683750, rs993394322, rs771129715, rs1456208953	RCV004733278 RCV004733279 RCV004728987 RCV004728993 RCV000367935 RCV004528062 RCV000779628 RCV004732733 RCV004733561 RCV004733577 RCV004530086 RCV004732786 RCV004535245 RCV004528540 RCV004542263 RCV004531844 RCV004725212 RCV004732891 RCV004722949 RCV004544839 RCV004733019 RCV004535855 RCV004733043 RCV004723197 RCV004538435 RCV004733180 RCV004538486
Uterine corpus endometrial carcinoma	Pathogenic	rs751477523	RCV005902021

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Adrenocortical carcinoma, hereditary	Benign; Likely benign	rs139974543	RCV005886580
Clear cell carcinoma of kidney	Benign; Likely benign; Uncertain significance	rs139974543, rs770503381	RCV005886581 RCV005913532
Familial cancer of breast	Conflicting classifications of pathogenicity	rs141608712	RCV005894493
Focal segmental glomerulosclerosis	Benign	rs61747071	RCV002293972
Gastric cancer	Benign; Likely benign; Uncertain significance	rs139974543, rs1946155, rs770503381	RCV005886582 RCV005894492 RCV005913533
Kidney disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	rs2302677, rs61743997, rs113083177, rs2543790685, rs561414163, rs146902870, rs569208946, rs953486434, rs377035693	RCV002294021 RCV002294032 RCV002294033 RCV002294607 RCV002294052 RCV002294053 RCV002294386 RCV002294391 RCV002294449
Lung cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	rs139974543, rs141608712	RCV005886587 RCV005894494
Malignant tumor of esophagus	Benign; Likely benign	rs139974543	RCV005886579
Malignant tumor of urinary bladder	Uncertain significance	rs770503381	RCV005913531
Melanoma	Benign; Likely benign	rs139974543	RCV005886586
Microcephaly	Uncertain significance	rs181022346	RCV001252814
Nephronophthisis	Benign; Uncertain significance; Conflicting classifications of pathogenicity	rs61747071, rs750903762, rs750499169, rs886052093	RCV000234815 RCV000265013 RCV000300099 RCV000332245
Nephronophthisis 8	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs201380599, rs2302677, rs144313291, rs111775292, rs139974543, rs61743997, rs2111119, rs3213758, rs4784320, rs61747071, rs561414163, rs142349647, rs146902870, rs137982921, rs139503476, rs201248643, rs146197239, rs140067659, rs148230131, rs79708859, rs151332923, rs142317242, rs138724933, rs886038619, rs568801926, rs775153934, rs147295026, rs61742381, rs373003699, rs183419371, rs530772984, rs147366111, rs143863631, rs886052086, rs192765976, rs759935029, rs886052096, rs532412372, rs76600508, rs369451829, rs779839225, rs886052087, rs886052088, rs545786772, rs886052090, rs563237818, rs4784319, rs377402117, rs886052092, rs371616177, rs886052095, rs750235612, rs886052097, rs202149647, rs182207372, rs886052099, rs562413151, rs151226475, rs561880798, rs3760008, rs184520009, rs544840421, rs190566840, rs11863101, rs771545136, rs117364872, rs141979202, rs886052098, rs1946155, rs188203905, rs145688896, rs763384255, rs886052089, rs778362441, rs549065732, rs886052091, rs886052094, rs141608712, rs144023021, rs151212590, rs146925098, rs376659273, rs146584570, rs141201084, rs147734438, rs574430009, rs550006406, rs202124667, rs1224541215, rs144554139, rs1963334195, rs140374059, rs184079732, rs150194508, rs375800554, rs1437795784, rs145688122, rs138437010, rs1963365021, rs554221378, rs894081042, rs35669682, rs1963395143, rs1963396187, rs868861934, rs770837632, rs1963400312, rs773361667, rs776310931, rs536037779, rs746806282, rs973841786, rs780672507, rs768672275, rs201737322, rs1967363312, rs776941281, rs376808910, rs1167981125, rs755258407, rs1195150584, rs1020579838, rs909461672, rs368728064, rs1970739259	RCV001120738 RCV000394341 RCV000280063 RCV000329259 RCV001120445 RCV000278832 RCV000364774 RCV000291008 RCV000318666 RCV001094311 RCV001115543 RCV000284497 RCV001116965 RCV000307599 RCV001120642 RCV001118605 RCV001117062 RCV001120943 RCV000272739 RCV001120843 RCV001118609 RCV000302183 RCV000399116 RCV001115542 RCV000281675 RCV000343656 RCV001115908 RCV001118695 RCV001120151 RCV001117358 RCV001117361 RCV000276180 RCV000361003 RCV000343872 RCV000321822 RCV000324659 RCV000401665 RCV000316530 RCV000336182 RCV000275958 RCV000378829 RCV000268439 RCV000270988 RCV000350397 RCV000277192 RCV000396943 RCV000393136 RCV000284914 RCV000299028 RCV000400874 RCV000319864 RCV000313216 RCV000385963 RCV000320204 RCV000339982 RCV000264044 RCV000325413 RCV000316080 RCV000296466 RCV000295598 RCV000401575 RCV000368282 RCV000380062 RCV000363660 RCV000324463 RCV000390519 RCV000352999 RCV000345463 RCV000368366 RCV000273866 RCV000381431 RCV000398326 RCV000401876 RCV000358319 RCV000279217 RCV000370978 RCV000401516 RCV000283664 RCV000362256 RCV000346684 RCV000353091 RCV001120236 RCV001118973 RCV001115809 RCV001115726 RCV001115636 RCV001119075 RCV001117471 RCV001121632 RCV001116760 RCV001118206 RCV001118208 RCV001119750 RCV001119754 RCV001121734 RCV001116871 RCV001118320 RCV001119857 RCV001119860 RCV001119861 RCV001115269 RCV001118427 RCV001115359 RCV001115362 RCV001115365 RCV001118510 RCV001120035 RCV001120037 RCV001120337 RCV001115445 RCV001120446 RCV001116970 RCV001120544 RCV001117156 RCV001120742 RCV001118880 RCV001118883 RCV001118972 RCV001120940 RCV001121040 RCV001121041 RCV001116126 RCV001117563 RCV001120946 RCV001119072
Optic atrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs137982921, rs770013793	RCV004816258 RCV004818289
Ovarian serous cystadenocarcinoma	Benign; Likely benign; Uncertain significance	rs139974543, rs1159921487	RCV005886583 RCV005934931
Retinal dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs759935029, rs146925098, rs146584570, rs750930363, rs202124667, rs902687917, rs1967458211, rs769611947, rs1406955571, rs973841786	RCV004816558 RCV004816559 RCV004816716 RCV004818129 RCV004818119 RCV001074551 RCV001074550 RCV001073369 RCV001074084 RCV004813782
Retinitis pigmentosa in ciliopathies, modifier of	Benign	rs61747071	RCV000001133
See cases	Uncertain significance	rs1203965149	RCV002252449
Thymoma	Benign; Likely benign	rs139974543	RCV005886584
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs139974543	RCV005886585

Associations from Text Mining
Disease Name	Relationship Type	References
Agenesis of Cerebellar Vermis	Associate	17960139, 18565097, 18950740, 19574260, 33432080, 35858853, 37993833, 38013309, 40393193
Alstrom Syndrome	Associate	22876109
Bipolar Disorder	Associate	21254220, 31033179, 31754094
Ciliopathies	Associate	19058225, 21068128, 29455858
COACH syndrome	Associate	19574260
Diabetes Mellitus Type 2	Associate	18426861, 31754094
Dyskinesia Familial with Facial Myokymia	Associate	37993833
Glycosuria Renal	Associate	35858853
Hepatic Fibrosis Congenital	Associate	19574260
Hypomagnesemia 5 Renal with Ocular Involvement	Associate	35858853
Kidney Failure Chronic	Associate	37993833
Meckel syndrome type 1	Associate	18565097, 19777577, 21493627
Nephronophthisis familial juvenile	Associate	17960139
Obesity	Associate	29657248
Retinitis Pigmentosa	Associate	33808286
Retinitis Pigmentosa 2	Associate	21857984, 31953110
Vision Disorders	Associate	31953110
Vitiligo	Associate	23678272