annotate test-data/variants-for-diseases-union.tsv @ 5:7648db7c7168 draft

planemo upload commit 9608f0096fcafb3202cde18a424264ad66130a21-dirty

ClinVarVariant:39148	NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7051	NM_004562.2(PARK2):c.633A>T (p.Lys211Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1936	NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4810	NM_012179.3(FBXO7):c.1144+1G>T	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:260300	autosomal recessive early-onset Parkinson disease 15				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39147	NM_198578.3(LRRK2):c.225G>A (p.Ala75=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39234	NM_198578.3(LRRK2):c.7155A>G (p.Gly2385=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2412	NM_005216.4(DDOST):c.*807_*5409del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7050	NM_004562.2(PARK2):c.823C>T (p.Arg275Trp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9695	m.14319T>C	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39128	NM_198578.3(LRRK2):c.1000G>A (p.Glu334Lys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39215	NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39195	NM_198578.3(LRRK2):c.4793T>A (p.Val1598Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:209135	NM_022089.3(ATP13A2):c.348-9_351del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4809	NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:260300	autosomal recessive early-onset Parkinson disease 15				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39214	NM_198578.3(LRRK2):c.5610G>T (p.Leu1870Phe)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:143196	NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39194	NM_198578.3(LRRK2):c.4666C>A (p.Leu1556Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7042	NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9695	m.14319T>C	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39213	NM_198578.3(LRRK2):c.5606T>C (p.Met1869Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39193	NM_198578.3(LRRK2):c.4624C>T (p.Pro1542Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
NCBIGene:677662	PARK12	NCBITaxon:9606	Homo sapiens			RO:0002326	contributes to	NCBIGene:677662	PARK12	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
ClinVarVariant:39192	NM_198578.3(LRRK2):c.457T>C (p.Leu153=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39212	NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
NCBIGene:5072	PARK3	NCBITaxon:9606	Homo sapiens			RO:0002326	contributes to	NCBIGene:5072	PARK3	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
ClinVarVariant:4808	NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:260300	autosomal recessive early-onset Parkinson disease 15				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39191	NM_198578.3(LRRK2):c.4541G>A (p.Arg1514Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30371	NM_003560.2(PLA2G6):c.991G>T (p.Asp331Tyr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:612953	Parkinson Disease 14, Autosomal Recessive				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39238	NM_198578.3(LRRK2):c.7190T= (p.Met2397=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7053	NM_004562.2(PARK2):c.7+1G>T	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:50354	NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2404	NM_032409.2(PINK1):c.926G>A (p.Gly309Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39237	NM_198578.3(LRRK2):c.7186_7187dupGT (p.Met2397Terfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1937	NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4811	NM_012179.3(FBXO7):c.65C>T (p.Thr22Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:260300	autosomal recessive early-onset Parkinson disease 15				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7052	PARK2, 1-BP DEL, 1072T	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39149	NM_198578.3(LRRK2):c.2378G>T (p.Arg793Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39236	NM_198578.3(LRRK2):c.7183G>A (p.Glu2395Lys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:8113	NM_002973.3(ATXN2):c.496_498CAG(15_24) (p.Gln188_Pro189insGlnGln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39235	NM_198578.3(LRRK2):c.7168G>A (p.Val2390Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:12298	NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613643	Parkinson Disease 5, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39211	NM_198578.3(LRRK2):c.546A>G (p.Lys182=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7048	PARK2, 1-BP DEL, 255A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4342	NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:12297	NM_004181.4(UCHL1):c.279C>G (p.Ile93Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613643	Parkinson Disease 5, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7050	NM_004562.2(PARK2):c.823C>T (p.Arg275Trp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9726	m.3397A>G	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7055	PARK2, EX5-6 DEL	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39210	NM_198578.3(LRRK2):c.5467C>A (p.Gln1823Lys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39190	NM_198578.3(LRRK2):c.4448G>A (p.Arg1483Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39239	NM_198578.3(LRRK2):c.7224G>A (p.Met2408Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:29936	NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4885	FGF20, 951C/T	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1939	NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39233	NM_198578.3(LRRK2):c.713A>T (p.Asn238Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39146	NM_198578.3(LRRK2):c.2167A>G (p.Ile723Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7035	NM_004562.2(PARK2):c.413-?_534+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:98243	NM_016835.4(MAPT):c.1838_1840delATA (p.Asn613del)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9579	m.8344A>G	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:556500	Parkinson Disease, Mitochondrial				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7064	NM_007262.4(PARK7):c.497T>C (p.Leu166Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39232	NM_198578.3(LRRK2):c.7067C>T (p.Thr2356Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39145	NM_198578.3(LRRK2):c.2147C>T (p.Ala716Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4295	NM_001005741.2(GBA):c.1504C>T (p.Arg502Cys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:18181	NM_000669.4(ADH1C):c.232G>T (p.Gly78Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:556500	Parkinson Disease, Mitochondrial				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39231	NM_198578.3(LRRK2):c.683G>C (p.Cys228Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39144	NM_198578.3(LRRK2):c.2134A>G (p.Met712Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7040	NM_004562.2(PARK2):c.8-?_171+?del	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:39143	NM_198578.3(LRRK2):c.2022A>C (p.Val674=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7043	NM_004562.2(PARK2):c.483A>T (p.Lys161Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39230	NM_198578.3(LRRK2):c.6782A>T (p.Asn2261Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:6204	NM_003560.2(PLA2G6):c.2239C>T (p.Arg747Trp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:612953	Parkinson Disease 14, Autosomal Recessive				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2409	NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39221	NM_198578.3(LRRK2):c.6241A>G (p.Asn2081Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2407	NM_032409.2(PINK1):c.736C>T (p.Arg246Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39134	NM_198578.3(LRRK2):c.149A>G (p.His50Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:6203	NM_003560.2(PLA2G6):c.2222G>A (p.Arg741Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:612953	Parkinson Disease 14, Autosomal Recessive				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30583	NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39132	NM_198578.3(LRRK2):c.1383T= (p.Ser461=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2408	NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39220	NM_198578.3(LRRK2):c.6187_6191delCTCTA (p.Leu2063Terfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39133	NM_198578.3(LRRK2):c.1464A>T (p.Leu488=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:56171	NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39243	NM_198578.3(LRRK2):c.825T= (p.His275=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:755	NM_015575.3(GIGYF2):c.1818C>G (p.Asp606Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607688	Parkinson Disease 11, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39156	NM_198578.3(LRRK2):c.2857T>C (p.Leu953=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14009	SNCA, TRIPLICATION	NCBITaxon:9606	Homo sapiens					OMIM:168601	autosomal dominant Parkinson disease 1				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:7046	NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:6144	NR_002717.2(ATXN8OS):n.1103_1105CTG(15_40)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
NCBIGene:100359403	PARK16	NCBITaxon:9606	Homo sapiens			RO:0002326	contributes to	NCBIGene:100359403	PARK16	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
ClinVarVariant:1942	NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:29685	NM_001044.4(SLC6A3):c.1269+1G>A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613135	Parkinsonism-Dystonia, Infantile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9054	NM_021074.4(NDUFV2):c.86T>C (p.Val29Ala)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:556500	Parkinson Disease, Mitochondrial				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39155	NM_198578.3(LRRK2):c.2830G>T (p.Asp944Tyr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:754	NM_015575.3(GIGYF2):c.1370A>C (p.Asn457Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607688	Parkinson Disease 11, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39242	NM_198578.3(LRRK2):c.7468delC (p.Gln2490Asnfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:41223	NM_004562.2(PARK2):c.500G>A (p.Ser167Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:757	NM_015575.3(GIGYF2):c.1262A>G (p.Lys421Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607688	Parkinson Disease 11, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39158	NM_198578.3(LRRK2):c.2918G>A (p.Ser973Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:41222	NM_004562.2(PARK2):c.1180G>A (p.Asp394Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:66098	NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39167	NM_198578.3(LRRK2):c.356T>C (p.Leu119Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2405	NM_032409.2(PINK1):c.813C>A (p.His271Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2414	NM_032409.2(PINK1):c.650C>A (p.Ala217Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:41223	NM_004562.2(PARK2):c.500G>A (p.Ser167Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39169	NM_198578.3(LRRK2):c.3647A>G (p.His1216Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7038	NM_004562.2(PARK2):c.245C>A (p.Ala82Glu)	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:97017	NM_001044.4(SLC6A3):c.671T>C (p.Leu224Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613135	Parkinsonism-Dystonia, Infantile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:97000	NM_000345.3(SNCA):c.152G>A (p.Gly51Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168601	autosomal dominant Parkinson disease 1				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2415	NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2412	NM_005216.4(DDOST):c.*807_*5409del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:60700	NM_007262.4(PARK7):c.-24+75_-24+92dup	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606324	Parkinson Disease 7, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39165	NM_198578.3(LRRK2):c.3451G>A (p.Ala1151Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:96731	NM_198578.3(LRRK2):c.7300A>G (p.Ile2434Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:216934	NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607688	Parkinson Disease 11, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2413	NM_032409.2(PINK1):c.938C>T (p.Thr313Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:41221	NM_004562.2(PARK2):c.1138G>C (p.Val380Leu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39166	NM_198578.3(LRRK2):c.3494T>C (p.Leu1165Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:41220	NM_004562.2(PARK2):c.1096C>T (p.Arg366Trp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4342	NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:610297	Parkinson Disease 13, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2410	PINK1, 3-BP INS, 1602CAA	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7065	NM_007262.4(PARK7):c.78G>A (p.Met26Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7036	NM_004562.2(PARK2):c.719C>G (p.Thr240Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39163	NM_198578.3(LRRK2):c.3333G>T (p.Gln1111His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2405	NM_032409.2(PINK1):c.813C>A (p.His271Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39246	NM_198578.3(LRRK2):c.936G>T (p.Ala312=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14009	SNCA, TRIPLICATION	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605543	Parkinson Disease 4, Autosomal Dominant				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39159	NM_198578.3(LRRK2):c.3018A>G (p.Ile1006Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39244	NM_198578.3(LRRK2):c.867C= (p.Asn289=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:756	NM_015575.3(GIGYF2):c.832A>G (p.Ile278Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607688	Parkinson Disease 11, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39157	NM_198578.3(LRRK2):c.28G>A (p.Glu10Lys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2404	NM_032409.2(PINK1):c.926G>A (p.Gly309Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39245	NM_198578.3(LRRK2):c.894T>C (p.Ala298=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:97016	NM_001044.4(SLC6A3):c.1031+1G>A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613135	Parkinsonism-Dystonia, Infantile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:3551	NM_004993.5(ATXN3):c.892_894CAG(8_36) (p.Gln298_Gln305=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39168	NM_198578.3(LRRK2):c.3574A>G (p.Ile1192Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:66099	NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4341	NM_013247.4(HTRA2):c.1195G>A (p.Gly399Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:610297	Parkinson Disease 13, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9571	m.15965A>G	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:556500	Parkinson Disease, Mitochondrial				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2411	NM_032409.2(PINK1):c.836G>A (p.Arg279His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2413	NM_032409.2(PINK1):c.938C>T (p.Thr313Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39164	NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:96729	NM_032409.2(PINK1):c.923T>A (p.Leu308Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39161	NM_198578.3(LRRK2):c.3200G>A (p.Arg1067Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39189	NM_198578.3(LRRK2):c.4402A>G (p.Lys1468Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39209	NM_198578.3(LRRK2):c.5457T>C (p.Gly1819=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39160	NM_198578.3(LRRK2):c.3021T= (p.Ser1007=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9559	m.15950G>A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:556500	Parkinson Disease, Mitochondrial				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7044	PARK2, 1-BP DEL, 202A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39206	NM_198578.3(LRRK2):c.5183G>A (p.Arg1728His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30368	PLA2G6, PHE72LEU	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:612953	Parkinson Disease 14, Autosomal Recessive				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39186	NM_198578.3(LRRK2):c.4337C>T (p.Pro1446Leu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7052	PARK2, 1-BP DEL, 1072T	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39162	NM_198578.3(LRRK2):c.3287C>G (p.Ser1096Cys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:96730	NM_198578.3(LRRK2):c.2352C>A (p.Ser784Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39278	NM_198578.3(LRRK2):c.6523G>C (p.Asp2175His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7035	NM_004562.2(PARK2):c.413-?_534+?del	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:39208	NM_198578.3(LRRK2):c.5385G>T (p.Leu1795Phe)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30583	NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:610297	Parkinson Disease 13, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39188	NM_198578.3(LRRK2):c.4364_4365delAT (p.Asp1455Glyfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:41221	NM_004562.2(PARK2):c.1138G>C (p.Val380Leu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39187	NM_198578.3(LRRK2):c.4348G>A (p.Val1450Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:96728	NM_032409.2(PINK1):c.644C>T (p.Pro215Leu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:38301	NM_001005741.2(GBA):c.1226A>C (p.Asn409Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39183	NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2406	NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39184	NM_198578.3(LRRK2):c.4323C>T (p.Arg1441=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30366	NM_003560.2(PLA2G6):c.1904G>A (p.Arg635Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:612953	Parkinson Disease 14, Autosomal Recessive				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39204	NM_198578.3(LRRK2):c.5173C>T (p.Arg1725Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:96727	NM_018206.4(VPS35):c.1576C>T (p.Arg526Cys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39185	NM_198578.3(LRRK2):c.4324G>C (p.Ala1442Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30367	NM_003560.2(PLA2G6):c.1354C>T (p.Gln452Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:612953	Parkinson Disease 14, Autosomal Recessive				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39205	NM_198578.3(LRRK2):c.5174G>A (p.Arg1725Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39181	NM_198578.3(LRRK2):c.4269G>A (p.Lys1423=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7046	NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2414	NM_032409.2(PINK1):c.650C>A (p.Ala217Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39201	NM_198578.3(LRRK2):c.4939T>A (p.Ser1647Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:189240	NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7047	NM_004562.2(PARK2):c.167T>A (p.Val56Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:183259	NM_032409.2(PINK1):c.799C>T (p.Gln267Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39202	NM_198578.3(LRRK2):c.4959A>G (p.Leu1653=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39182	NM_198578.3(LRRK2):c.4290C>T (p.Ala1430=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4288	NM_001005741.2(GBA):c.1448T>C (p.Leu483Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7048	PARK2, 1-BP DEL, 255A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39203	NM_198578.3(LRRK2):c.5163A>G (p.Ser1721=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39151	NM_198578.3(LRRK2):c.2481T>C (p.Ser827=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
dbSNP:rs34778348	rs34778348-?	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2408	NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2410	PINK1, 3-BP INS, 1602CAA	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1936	NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly)	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:39152	NM_198578.3(LRRK2):c.2611A>G (p.Lys871Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30833	NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14008	NM_000345.3(SNCA):c.88G>C (p.Ala30Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168601	autosomal dominant Parkinson disease 1				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39240	NM_198578.3(LRRK2):c.7397T>A (p.Leu2466His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:41220	NM_004562.2(PARK2):c.1096C>T (p.Arg366Trp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39142	NM_198578.3(LRRK2):c.1987T>C (p.Ser663Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1221	NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7051	NM_004562.2(PARK2):c.633A>T (p.Lys211Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:97018	NM_001044.4(SLC6A3):c.1561C>T (p.Arg521Trp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613135	Parkinsonism-Dystonia, Infantile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39140	NM_198578.3(LRRK2):c.1674G= (p.Gly558=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39141	NM_198578.3(LRRK2):c.1847A>G (p.Lys616Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:60700	NM_007262.4(PARK7):c.-24+75_-24+92dup	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1220	ATP13A2, 22-BP DUP	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39153	NM_198578.3(LRRK2):c.2769G>C (p.Gln923His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30834	NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7050	NM_004562.2(PARK2):c.823C>T (p.Arg275Trp)	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:39154	NM_198578.3(LRRK2):c.2789A>G (p.Gln930Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:753	NM_015575.3(GIGYF2):c.167A>G (p.Asn56Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607688	Parkinson Disease 11, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39241	NM_198578.3(LRRK2):c.7435A>G (p.Asn2479Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1941	NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:12298	NM_004181.4(UCHL1):c.53C>A (p.Ser18Tyr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7064	NM_007262.4(PARK7):c.497T>C (p.Leu166Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606324	Parkinson Disease 7, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39176	NM_198578.3(LRRK2):c.4111A>G (p.Ile1371Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39175	NM_198578.3(LRRK2):c.3974G>A (p.Arg1325Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7065	NM_007262.4(PARK7):c.78G>A (p.Met26Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606324	Parkinson Disease 7, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39177	NM_198578.3(LRRK2):c.4125C>A (p.Asp1375Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30072	NM_198241.2(EIF4G1):c.3614G>A (p.Arg1205His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:614251	Parkinson Disease 18, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:56171	NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:616361	Parkinson Disease 21				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:162095	NM_000345.3(SNCA):c.150T>G (p.His50Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168601	autosomal dominant Parkinson disease 1				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7041	NM_004562.2(PARK2):c.872-?_1083+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9449	NM_003194.4(TBP):c.172_174CAG(25_42) (p.Gln95(25_42))	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30073	NM_198241.2(EIF4G1):c.1505C>T (p.Ala502Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:614251	Parkinson Disease 18, Autosomal Dominant, Susceptibility to				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39178	NM_198578.3(LRRK2):c.4193G>A (p.Arg1398His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7048	PARK2, 1-BP DEL, 255A	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:7066	NM_007262.4(PARK7):c.446A>C (p.Asp149Ala)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606324	Parkinson Disease 7, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14007	NM_000345.3(SNCA):c.157G>A (p.Ala53Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168601	autosomal dominant Parkinson disease 1				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39179	NM_198578.3(LRRK2):c.4229C>T (p.Thr1410Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39150	NM_198578.3(LRRK2):c.2428A>G (p.Ile810Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7067	NM_007262.4(PARK7):c.192G>C (p.Glu64Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606324	Parkinson Disease 7, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39171	NM_198578.3(LRRK2):c.3683G>C (p.Ser1228Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7036	NM_004562.2(PARK2):c.719C>G (p.Thr240Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7037	NM_004562.2(PARK2):c.931C>T (p.Gln311Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7038	NM_004562.2(PARK2):c.245C>A (p.Ala82Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7047	NM_004562.2(PARK2):c.167T>A (p.Val56Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39173	NM_198578.3(LRRK2):c.3784C>G (p.Pro1262Ala)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4341	NM_013247.4(HTRA2):c.1195G>A (p.Gly399Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30196	NM_018206.4(VPS35):c.1858G>A (p.Asp620Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:614203	Parkinson Disease 17				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:183259	NM_032409.2(PINK1):c.799C>T (p.Gln267Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39174	NM_198578.3(LRRK2):c.3960G>T (p.Arg1320Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7063	NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606324	Parkinson Disease 7, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:209136	NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39216	NM_198578.3(LRRK2):c.5822G>A (p.Arg1941His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39196	NM_198578.3(LRRK2):c.4838T>C (p.Val1613Ala)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39129	NM_198578.3(LRRK2):c.1088A>G (p.Asn363Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7034	NM_004562.2(PARK2):c.172-?_871+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:50354	NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7063	NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39217	NM_198578.3(LRRK2):c.6016T>C (p.Tyr2006His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39197	NM_198578.3(LRRK2):c.4872C>A (p.Gly1624=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2411	NM_032409.2(PINK1):c.836G>A (p.Arg279His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2409	NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
dbSNP:rs34637584	rs34637584-A	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:39218	NM_198578.3(LRRK2):c.6035T>C (p.Ile2012Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
NCBIGene:170534	PARK10	NCBITaxon:9606	Homo sapiens			RO:0002326	contributes to	NCBIGene:170534	PARK10	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
ClinVarVariant:7679	NR4A2, 1-BP DEL, -291T	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7043	NM_004562.2(PARK2):c.483A>T (p.Lys161Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39227	NM_198578.3(LRRK2):c.6428G>A (p.Arg2143His)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:88844	NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:615530	Parkinson Disease 20, Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7055	PARK2, EX5-6 DEL	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:1219	NM_022089.3(ATP13A2):c.1306+5G>A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7045	NM_004562.2(PARK2):c.735-?_871+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7042	NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39226	NM_198578.3(LRRK2):c.6422C>T (p.Thr2141Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39139	NM_198578.3(LRRK2):c.1653C>G (p.Asn551Lys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:96726	NM_007262.4(PARK7):c.399G>C (p.Met133Ile)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4335	NM_001005741.2(GBA):c.1444G>A (p.Asp482Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7066	NM_007262.4(PARK7):c.446A>C (p.Asp149Ala)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39180	NM_198578.3(LRRK2):c.4258G>A (p.Asp1420Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:6078	NM_005460.3(SNCAIP):c.1861C>T (p.Arg621Cys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7037	NM_004562.2(PARK2):c.931C>T (p.Gln311Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:189240	NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39200	NM_198578.3(LRRK2):c.4937T>C (p.Met1646Thr)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7045	NM_004562.2(PARK2):c.735-?_871+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39229	NM_198578.3(LRRK2):c.6566A>G (p.Tyr2189Cys)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39228	NM_198578.3(LRRK2):c.6510C>A (p.Gly2170=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:31151	NG_031977.1:g.5321_5326GGGGCC(24_?)	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:7044	PARK2, 1-BP DEL, 202A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39136	NM_198578.3(LRRK2):c.155C>T (p.Ser52Phe)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39223	NM_198578.3(LRRK2):c.632C>T (p.Ala211Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7053	NM_004562.2(PARK2):c.7+1G>T	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:16763	NM_001044.4(SLC6A3):c.1103T>A (p.Leu368Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613135	Parkinsonism-Dystonia, Infantile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39222	NM_198578.3(LRRK2):c.6324G>A (p.Glu2108=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39135	NM_198578.3(LRRK2):c.1517G>A (p.Arg506Gln)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9705	m.12397A>G	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7041	NM_004562.2(PARK2):c.872-?_1083+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:41222	NM_004562.2(PARK2):c.1180G>A (p.Asp394Asn)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1218	ATP13A2, 1-BP DEL, 3057C	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606693	Kufor-Rakeb syndrome				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9705	m.12397A>G	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39225	NM_198578.3(LRRK2):c.6415T>A (p.Cys2139Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39138	NM_198578.3(LRRK2):c.1630A>G (p.Lys544Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:88855	NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:615528	Parkinson Disease 19, Juvenile-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39137	NM_198578.3(LRRK2):c.1561A>G (p.Arg521Gly)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:88854	NM_001256864.1(DNAJC6):c.801-2A>G	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:615528	Parkinson Disease 19, Juvenile-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7040	NM_004562.2(PARK2):c.8-?_171+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:16764	NM_001044.4(SLC6A3):c.1184C>T (p.Pro395Leu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613135	Parkinsonism-Dystonia, Infantile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39198	NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7034	NM_004562.2(PARK2):c.172-?_871+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7680	NR4A2, -245T-G	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39219	NM_198578.3(LRRK2):c.6091A>T (p.Thr2031Ser)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7035	NM_004562.2(PARK2):c.413-?_534+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/coriell.ttl|http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39199	NM_198578.3(LRRK2):c.4911A>G (p.Lys1637=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7055	PARK2, EX5-6 DEL	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14009	SNCA, TRIPLICATION	NCBITaxon:9606	Homo sapiens					OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:39170	NM_198578.3(LRRK2):c.364C= (p.Leu122=)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:12297	NM_004181.4(UCHL1):c.279C>G (p.Ile93Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39224	NM_198578.3(LRRK2):c.6356C>T (p.Pro2119Leu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14011	SNCA, DUPLICATION	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168601	autosomal dominant Parkinson disease 1				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2407	NM_032409.2(PINK1):c.736C>T (p.Arg246Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39131	NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
dbSNP:rs34637584	rs34637584-A	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2415	NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7067	NM_007262.4(PARK7):c.192G>C (p.Glu64Asp)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7040	NM_004562.2(PARK2):c.8-?_171+?del	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7038	NM_004562.2(PARK2):c.245C>A (p.Ala82Glu)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	Orphanet:2828	Young-onset Parkinson disease				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2406	NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
dbSNP:rs6265	rs6265-C	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39130	NM_198578.3(LRRK2):c.1096G>A (p.Val366Met)	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct