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date Sun, 25 Sep 2016 21:59:32 -0400
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ClinVarVariant:39212	NM_198578.3(LRRK2):c.5605A>G (p.Met1869Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4808	NM_012179.3(FBXO7):c.1132C>G (p.Arg378Gly)	NCBITaxon:9606	Homo sapiens	NCBIGene:25793	FBXO7	GENO:0000840	pathogenic_for_condition	OMIM:260300	autosomal recessive early-onset Parkinson disease 15			PMID:18513678	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7036	NM_004562.2(PARK2):c.719C>G (p.Thr240Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:9731209|PMID:16049031	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
NCBIGene:108353827	PARK21	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:616361	PARK21	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
ClinVarVariant:30196	NM_018206.5(VPS35):c.1858G>A (p.Asp620Asn)	NCBITaxon:9606	Homo sapiens	NCBIGene:55737	VPS35	GENO:0000840	pathogenic_for_condition	OMIM:614203	Parkinson Disease 17			PMID:18342564|PMID:22517097|PMID:21763483|PMID:22991136|PMID:22801713	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7063	NC_000001.10:g.(8018845_8022846)_(8037799_8044954)del	NCBITaxon:9606	Homo sapiens	NCBIGene:11315	PARK7	GENO:0000840	pathogenic_for_condition	OMIM:606324	Parkinson disease 7			PMID:20639397|PMID:12446870	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7065	NM_007262.4(PARK7):c.78G>A (p.Met26Ile)	NCBITaxon:9606	Homo sapiens	NCBIGene:11315	PARK7	GENO:0000840	pathogenic_for_condition	OMIM:606324	Parkinson disease 7			PMID:12953260|PMID:22492997	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:162095	NM_000345.3(SNCA):c.150T>G (p.His50Gln)	NCBITaxon:9606	Homo sapiens	NCBIGene:6622	SNCA	GENO:0000840	pathogenic_for_condition	OMIM:168601	Parkinson disease 1			PMID:24936070|PMID:23427326	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7064	NM_007262.4(PARK7):c.497T>C (p.Leu166Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:11315	PARK7	GENO:0000840	pathogenic_for_condition	OMIM:606324	Parkinson disease 7			PMID:22492997|PMID:20639397|PMID:12446870	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:209136	NM_022089.3(ATP13A2):c.943G>A (p.Gly315Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000841	likely_pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:26633545	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:50354	NM_004562.2(PARK2):c.1292G>T (p.Cys431Phe)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:10939576|PMID:7565830	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7035	NM_004562.2(PARK2):c.413-?_534+?del	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:11009195|PMID:16086186|PMID:9560156|PMID:7565830|PMID:11405814	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:157665	NC_000023.11:g.(155246216_?)_(?_155288781)del	NCBITaxon:9606	Homo sapiens	NCBIGene:116442	RAB39B	GENO:0000840	pathogenic_for_condition	OMIM:311510	Parkinsonism, early onset with mental retardation				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39198	NM_198578.3(LRRK2):c.4883G>C (p.Arg1628Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	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	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:9560156	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7037	NM_004562.2(PARK2):c.931C>T (p.Gln311Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:16049031|PMID:9731209	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7038	NM_004562.2(PARK2):c.245C>A (p.Ala82Glu)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:11487568	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7050	NM_004562.2(PARK2):c.823C>T (p.Arg275Trp)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:14519684|PMID:16049031|PMID:15970950	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39148	NM_198578.3(LRRK2):c.2264C>T (p.Pro755Leu)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	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	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:15970950	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1936	NM_198578.3(LRRK2):c.4321C>G (p.Arg1441Gly)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8			PMID:19020907|PMID:16003110|PMID:16533964|PMID:19308469|PMID:15541308	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:9579	m.8344A>G	NCBITaxon:9606	Homo sapiens	NCBIGene:4566	TRNK	GENO:0000840	pathogenic_for_condition	OMIM:556500	Parkinson disease, mitochondrial			PMID:1463005|PMID:1678125|PMID:8264702|PMID:1661776|PMID:1848674|PMID:1900002|PMID:1910259|PMID:20581069|PMID:7647790|PMID:8447321|PMID:1334369|PMID:17200493|PMID:8602753|PMID:8513395|PMID:10699170|PMID:8069655|PMID:1487239|PMID:1910341|PMID:9529371|PMID:2112427|PMID:1899320|PMID:1324294|PMID:8170567|PMID:9674814	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:29936	NM_012084.3(GLUD2):c.1492T>G (p.Ser498Ala)	NCBITaxon:9606	Homo sapiens	NCBIGene:2747	GLUD2	GENO:0000840	pathogenic_for_condition	OMIM:168600	Parkinson Disease, Late-Onset			PMID:19826450	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1939	NM_198578.3(LRRK2):c.3364A>G (p.Ile1122Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8			PMID:15541309	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7054	NM_004562.2(PARK2):c.719C>T (p.Thr240Met)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:16476817	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:602544.0022	PARK2, EX5-6 DEL	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2			OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:9726	m.3397A>G	NCBITaxon:9606	Homo sapiens	NCBIGene:4535	ND1	GENO:0000840	pathogenic_for_condition	OMIM:168600	Parkinson Disease, Late-Onset			PMID:7624338	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7055	PARK2, EX5-6 DEL	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:16476817	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1937	NM_198578.3(LRRK2):c.5096A>G (p.Tyr1699Cys)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8			PMID:15541309|PMID:16003110|PMID:18591067|PMID:15541308	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4811	NM_012179.3(FBXO7):c.65C>T (p.Thr22Met)	NCBITaxon:9606	Homo sapiens	NCBIGene:25793	FBXO7	GENO:0000840	pathogenic_for_condition	OMIM:260300	autosomal recessive early-onset Parkinson disease 15			PMID:19038853	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
NCBIGene:5072	PARK3	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:602404	PARK3	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
NCBIGene:677662	PARK12	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:300557	PARK12	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
ClinVarVariant:7052	PARK2, 1-BP DEL, 1072T	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:16130111|PMID:10894217	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30371	NM_003560.2(PLA2G6):c.991G>T (p.Asp331Tyr)	NCBITaxon:9606	Homo sapiens	NCBIGene:8398	PLA2G6	GENO:0000840	pathogenic_for_condition	OMIM:612953	Adult-onset dystonia-parkinsonism			PMID:21700586	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1938	NM_198578.3(LRRK2):c.4321C>T (p.Arg1441Cys)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8			PMID:7898705|PMID:16269541|PMID:19667187|PMID:15541309	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7053	NM_004562.2(PARK2):c.7+1G>T	NCBITaxon:9606	Homo sapiens	NCBIGene:135138	PACRG	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:16328510	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:156532	NM_171998.3(RAB39B):c.503C>A (p.Thr168Lys)	NCBITaxon:9606	Homo sapiens	NCBIGene:116442	RAB39B	GENO:0000840	pathogenic_for_condition	OMIM:311510	Parkinsonism, early onset with mental retardation			PMID:25434005|PMID:4025396	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4809	NM_012179.3(FBXO7):c.1492C>T (p.Arg498Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:25793	FBXO7	GENO:0000840	pathogenic_for_condition	OMIM:260300	autosomal recessive early-onset Parkinson disease 15			PMID:19038853	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:143196	NM_022089.3(ATP13A2):c.490C>T (p.Arg164Trp)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:163890.0003	SNCA, TRIPLICATION	NCBITaxon:9606	Homo sapiens	NCBIGene:6622	SNCA			OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:39215	NM_198578.3(LRRK2):c.5620G>T (p.Glu1874Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	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	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:26633545	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14007	NM_000345.3(SNCA):c.157G>A (p.Ala53Thr)	NCBITaxon:9606	Homo sapiens	NCBIGene:6622	SNCA	GENO:0000840	pathogenic_for_condition	OMIM:168601	Parkinson disease 1			PMID:9827625|PMID:11261505|PMID:9506559|PMID:10417297|PMID:19632874|PMID:20340137|PMID:17489854|PMID:9499430|PMID:9197268|PMID:18704525	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7067	NM_007262.4(PARK7):c.192G>C (p.Glu64Asp)	NCBITaxon:9606	Homo sapiens	NCBIGene:11315	PARK7	GENO:0000840	pathogenic_for_condition	OMIM:606324	Parkinson disease 7			PMID:15365989	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7066	NM_007262.4(PARK7):c.446A>C (p.Asp149Ala)	NCBITaxon:9606	Homo sapiens	NCBIGene:11315	PARK7	GENO:0000840	pathogenic_for_condition	OMIM:606324	Parkinson disease 7			PMID:12953260|PMID:23792957	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30833	NM_022089.3(ATP13A2):c.1101_1102dupGA (p.Thr368Argfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:20310007	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:602544.0005	PARK2, EX3DEL	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2			OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:218362	NM_171998.3(RAB39B):c.574G>A (p.Gly192Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:116442	RAB39B	GENO:0000840	pathogenic_for_condition	OMIM:311510	Parkinsonism, early onset with mental retardation				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2405	NM_032409.2(PINK1):c.813C>A (p.His271Gln)	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:15349870	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14009	SNCA, TRIPLICATION	NCBITaxon:9606	Homo sapiens	NCBIGene:6622	SNCA	GENO:0000840	pathogenic_for_condition	OMIM:605543	Parkinson Disease 4, Autosomal Dominant			PMID:8285594|PMID:15159488|PMID:17251522|PMID:14593171|PMID:14755720	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:602544.0002	PARK2, EX4DEL	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2			OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:2406	NM_032409.2(PINK1):c.1311G>A (p.Trp437Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:18524835|PMID:16207731|PMID:15087508	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14011	SNCA, DUPLICATION	NCBITaxon:9606	Homo sapiens	NCBIGene:6622	SNCA	GENO:0000840	pathogenic_for_condition	OMIM:168601	Parkinson disease 1			PMID:14593171|PMID:17625105|PMID:18852448|PMID:16358335|PMID:18852449|PMID:18852445|PMID:18195271|PMID:15451224|PMID:14755720|PMID:15451225|PMID:17251522	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2407	NM_032409.2(PINK1):c.736C>T (p.Arg246Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:102464833	MIR6084	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:15349870	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39131	NM_198578.3(LRRK2):c.1256C>T (p.Ala419Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:218882	NM_001320327.1(CHCHD2):c.182C>T (p.Thr61Ile)	NCBITaxon:9606	Homo sapiens	NCBIGene:51142	CHCHD2	GENO:0000840	pathogenic_for_condition	OMIM:616710	Parkinson disease 22, autosomal dominant			PMID:25662902|PMID:26067113	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:218883	NM_001320327.1(CHCHD2):c.434G>A (p.Arg145Gln)	NCBITaxon:9606	Homo sapiens	NCBIGene:51142	CHCHD2	GENO:0000840	pathogenic_for_condition	OMIM:616710	Parkinson disease 22, autosomal dominant			PMID:25662902|PMID:26067113	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:6203	NM_003560.2(PLA2G6):c.2222G>A (p.Arg741Gln)	NCBITaxon:9606	Homo sapiens	NCBIGene:8398	PLA2G6	GENO:0000840	pathogenic_for_condition	OMIM:612953	Adult-onset dystonia-parkinsonism			PMID:18570303|PMID:18981035	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2408	NM_032409.2(PINK1):c.1040T>C (p.Leu347Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:15824318|PMID:15349870|PMID:15596610	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:218884	NM_001320327.1(CHCHD2):c.300+5G>A	NCBITaxon:9606	Homo sapiens	NCBIGene:51142	CHCHD2	GENO:0000840	pathogenic_for_condition	OMIM:616710	Parkinson disease 22, autosomal dominant			PMID:26067113|PMID:25662902	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:56171	NM_015268.3(DNAJC13):c.2564A>G (p.Asn855Ser)	NCBITaxon:9606	Homo sapiens	NCBIGene:23317	DNAJC13	GENO:0000840	pathogenic_for_condition	OMIM:168600	Parkinson Disease, Late-Onset			PMID:24218364	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:6204	NM_003560.2(PLA2G6):c.2239C>T (p.Arg747Trp)	NCBITaxon:9606	Homo sapiens	NCBIGene:8398	PLA2G6	GENO:0000840	pathogenic_for_condition	OMIM:612953	Adult-onset dystonia-parkinsonism			PMID:18570303|PMID:26633545|PMID:18570303|PMID:20886109|PMID:18981035	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2409	NM_032409.2(PINK1):c.1570_1573dupTTAG (p.Asp525Valfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:15349871	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:16763	NM_001044.4(SLC6A3):c.1103T>A (p.Leu368Gln)	NCBITaxon:9606	Homo sapiens	NCBIGene:6531	SLC6A3	GENO:0000840	pathogenic_for_condition	OMIM:613135	Parkinsonism-Dystonia, Infantile			PMID:19478460	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:88854	NM_001256864.1(DNAJC6):c.801-2A>G	NCBITaxon:9606	Homo sapiens	NCBIGene:9829	DNAJC6	GENO:0000840	pathogenic_for_condition	OMIM:615528	Parkinson disease 19a, juvenile-onset			PMID:22563501|PMID:24220513	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7040	NM_004562.2(PARK2):c.8-?_171+?del	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:9634531|PMID:9802278	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:16764	NM_001044.4(SLC6A3):c.1184C>T (p.Pro395Leu)	NCBITaxon:9606	Homo sapiens	NCBIGene:6531	SLC6A3	GENO:0000840	pathogenic_for_condition	OMIM:613135	Parkinsonism-Dystonia, Infantile			PMID:19478460	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7041	NM_004562.2(PARK2):c.872-?_1083+?del	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:9802278	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:224604	NM_020821.2(VPS13C):c.802_805dupCAGA (p.Arg269Thrfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:54832	VPS13C	GENO:0000840	pathogenic_for_condition	OMIM:616840	Parkinson Disease 23, Autosomal Recessive Early-Onset			PMID:26942284	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1218	ATP13A2, 1-BP DEL, 3057C	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:16964263|PMID:21724849	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:602544.0011	PARK2, ALA82GLU	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2			OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:222067	NM_020821.2(VPS13C):c.8445+2T>G	NCBITaxon:9606	Homo sapiens	NCBIGene:54832	VPS13C	GENO:0000840	pathogenic_for_condition	OMIM:616840	Parkinson Disease 23, Autosomal Recessive Early-Onset			PMID:26942284	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:88855	NM_001256865.1(DNAJC6):c.2200C>T (p.Gln734Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:9829	DNAJC6	GENO:0000840	pathogenic_for_condition	OMIM:615528	Parkinson disease 19a, juvenile-onset			PMID:23211418	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:222069	NM_020821.2(VPS13C):c.9568G>T (p.Glu3190Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:54832	VPS13C	GENO:0000840	pathogenic_for_condition	OMIM:616840	Parkinson Disease 23, Autosomal Recessive Early-Onset			PMID:26942284	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1219	NM_022089.3(ATP13A2):c.1306+5G>A	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:16964263|PMID:21724849	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7042	NM_004562.2(PARK2):c.1358G>A (p.Trp453Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:10072423|PMID:16049031	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1941	NM_198578.3(LRRK2):c.6059T>C (p.Ile2020Thr)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8			PMID:15541309|PMID:15880653|PMID:9276200|PMID:16321986	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:14008	NM_000345.3(SNCA):c.88G>C (p.Ala30Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:6622	SNCA	GENO:0000840	pathogenic_for_condition	OMIM:168601	Parkinson disease 1			PMID:11376188|PMID:9462735|PMID:24158909|PMID:20437567|PMID:24158904	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1940	NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8			PMID:17215492|PMID:16436782|PMID:16966502|PMID:16269541|PMID:15852371|PMID:16436781|PMID:15680457|PMID:16401756|PMID:15726496|PMID:16533964|PMID:23075850|PMID:19283415|PMID:17353388|PMID:17050822|PMID:15811455|PMID:18704525|PMID:15929036|PMID:17060595|PMID:21115957|PMID:16240353|PMID:19020907|PMID:16728648|PMID:20008657|PMID:16311269|PMID:15680455|PMID:15680456|PMID:18981379|PMID:16960813|PMID:16145815|PMID:17938369|PMID:15732108	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30834	NM_022089.3(ATP13A2):c.2552_2553delTT (p.Phe851Cysfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:21094623	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1942	NM_198578.3(LRRK2):c.4322G>A (p.Arg1441His)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8			PMID:17060595|PMID:16172858|PMID:16157909	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:29685	NM_001044.4(SLC6A3):c.1269+1G>A	NCBITaxon:9606	Homo sapiens	NCBIGene:6531	SLC6A3	GENO:0000840	pathogenic_for_condition	OMIM:613135	Parkinsonism-Dystonia, Infantile			PMID:22279524	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
NCBIGene:100359403	PARK16	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:613164	PARK16	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
ClinVarVariant:1943	NM_198578.3(LRRK2):c.7153G>A (p.Gly2385Arg)	NCBITaxon:9606	Homo sapiens			GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
dbSNP:rs34637584	rs34637584-A	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2			OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:2404	NM_032409.2(PINK1):c.926G>A (p.Gly309Asp)	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:15087508|PMID:16207731|PMID:18003639	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7043	NM_004562.2(PARK2):c.483A>T (p.Lys161Asn)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:16049031|PMID:10072423	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:88844	NM_203446.2(SYNJ1):c.773G>A (p.Arg258Gln)	NCBITaxon:9606	Homo sapiens	NCBIGene:8867	SYNJ1	GENO:0000840	pathogenic_for_condition	OMIM:615530	Parkinson disease 20, early-onset			PMID:23804563|PMID:23804577	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:606463.0003	GBA, ASN370SER	NCBITaxon:9606	Homo sapiens	NCBIGene:2629	GBA			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	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:12707457|PMID:11402119	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7045	NM_004562.2(PARK2):c.735-?_871+?del	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:11487568|PMID:16130111|PMID:10894217	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30367	NM_003560.2(PLA2G6):c.1354C>T (p.Gln452Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:8398	PLA2G6	GENO:0000840	pathogenic_for_condition	OMIM:612953	Adult-onset dystonia-parkinsonism			PMID:20938027	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39183	NM_198578.3(LRRK2):c.4309A>C (p.Asn1437His)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	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	NCBIGene:8398	PLA2G6	GENO:0000840	pathogenic_for_condition	OMIM:612953	Adult-onset dystonia-parkinsonism			PMID:20938027	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7048	PARK2, 1-BP DEL, 255A	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:10072423|PMID:12056932	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:7046	NM_004562.2(PARK2):c.635G>A (p.Cys212Tyr)	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:12056932|PMID:11163284	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:189240	NM_032409.2(PINK1):c.620delG (p.Arg207Glnfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:102464833	MIR6084	GENO:0000840	pathogenic_for_condition	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	NCBIGene:5071	PARK2	GENO:0000840	pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:12056932	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:218942	NM_005397.3(PODXL):c.89_90insGTCGCCCC (p.Gln32Profs)	NCBITaxon:9606	Homo sapiens	NCBIGene:5420	PODXL	GENO:0000841	likely_pathogenic_for_condition	OMIM:600116	Parkinson Disease 2, Autosomal Recessive Juvenile			PMID:26864383	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:97017	NM_001044.4(SLC6A3):c.671T>C (p.Leu224Pro)	NCBITaxon:9606	Homo sapiens	NCBIGene:6531	SLC6A3	GENO:0000840	pathogenic_for_condition	OMIM:613135	Parkinsonism-Dystonia, Infantile			PMID:21112253	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2415	NM_032409.2(PINK1):c.1366C>T (p.Gln456Ter)	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:16769864|PMID:18685134	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:97000	NM_000345.3(SNCA):c.152G>A (p.Gly51Asp)	NCBITaxon:9606	Homo sapiens	NCBIGene:6622	SNCA	GENO:0000840	pathogenic_for_condition	OMIM:168601	Parkinson disease 1			PMID:23526723	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:97016	NM_001044.4(SLC6A3):c.1031+1G>A	NCBITaxon:9606	Homo sapiens	NCBIGene:6531	SLC6A3	GENO:0000840	pathogenic_for_condition	OMIM:613135	Parkinsonism-Dystonia, Infantile			PMID:21112253	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:66099	NM_022089.3(ATP13A2):c.2629G>A (p.Gly877Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:20853184	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:66098	NM_022089.3(ATP13A2):c.2561T>G (p.Met854Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:22388936|PMID:495089	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:163890.0003	SNCA, TRIPLICATION	NCBITaxon:9606	Homo sapiens	NCBIGene:6622	SNCA			OMIM:168601	Parkinson disease 1				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:2414	NM_032409.2(PINK1):c.650C>A (p.Ala217Asp)	NCBITaxon:9606	Homo sapiens	NCBIGene:102464833	MIR6084	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:16966503	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:602544.0017	PARK2, ARG275TRP	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2			OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:216934	NM_001103146.1(GIGYF2):c.2378C>T (p.Ala793Val)	NCBITaxon:9606	Homo sapiens	NCBIGene:26058	GIGYF2	GENO:0000841	likely_pathogenic_for_condition	OMIM:607688	Parkinson disease 11				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2413	NM_032409.2(PINK1):c.938C>T (p.Thr313Met)	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:17030667	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
NCBIGene:170534	PARK10	NCBITaxon:9606	Homo sapiens			RO:0002200	has phenotype	OMIM:606852	PARK10	ECO:0000177	genomic context evidence		http://data.monarchinitiative.org/ttl/omim.ttl	direct
ClinVarVariant:2412	NM_005216.4(DDOST):c.*807_*5409del	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:15955953	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:60700	NM_007262.4(PARK7):c.-24+75_-24+92dup	NCBITaxon:9606	Homo sapiens	NCBIGene:11315	PARK7	GENO:0000840	pathogenic_for_condition	OMIM:606324	Parkinson disease 7			PMID:16240358	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:222070	NM_020821.2(VPS13C):c.4165G>C (p.Gly1389Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:54832	VPS13C	GENO:0000840	pathogenic_for_condition	OMIM:616840	Parkinson Disease 23, Autosomal Recessive Early-Onset			PMID:26942284	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:97018	NM_001044.4(SLC6A3):c.1561C>T (p.Arg521Trp)	NCBITaxon:9606	Homo sapiens	NCBIGene:6531	SLC6A3	GENO:0000840	pathogenic_for_condition	OMIM:613135	Parkinsonism-Dystonia, Infantile			PMID:21112253	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1220	ATP13A2, 22-BP DUP	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:16964263|PMID:21724849	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:222071	NM_020821.2(VPS13C):c.4777delC (p.Gln1593Lysfs)	NCBITaxon:9606	Homo sapiens	NCBIGene:54832	VPS13C	GENO:0000840	pathogenic_for_condition	OMIM:616840	Parkinson Disease 23, Autosomal Recessive Early-Onset			PMID:26942284	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:1221	NM_022089.3(ATP13A2):c.1510G>C (p.Gly504Arg)	NCBITaxon:9606	Homo sapiens	NCBIGene:23400	ATP13A2	GENO:0000840	pathogenic_for_condition	OMIM:606693	Parkinson disease 9			PMID:17485642	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:4810	NM_012179.3(FBXO7):c.1144+1G>T	NCBITaxon:9606	Homo sapiens	NCBIGene:25793	FBXO7	GENO:0000840	pathogenic_for_condition	OMIM:260300	autosomal recessive early-onset Parkinson disease 15			PMID:19038853	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:30368	PLA2G6, PHE72LEU	NCBITaxon:9606	Homo sapiens	NCBIGene:8398	PLA2G6	GENO:0000840	pathogenic_for_condition	OMIM:612953	Adult-onset dystonia-parkinsonism			PMID:20938027	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
OMIM:602544.0014	PARK2, 1-BP DEL, 255A	NCBITaxon:9606	Homo sapiens	NCBIGene:5071	PARK2			OMIM:168600	Parkinson Disease, Late-Onset				http://data.monarchinitiative.org/ttl/coriell.ttl	inferred
ClinVarVariant:2411	NM_032409.2(PINK1):c.836G>A (p.Arg279His)	NCBITaxon:9606	Homo sapiens	NCBIGene:100861548	PINK1-AS	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:18704525|PMID:15970950	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:225276	NM_198578.3(LRRK2):c.4321C>A (p.Arg1441Ser)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:168600	Parkinson Disease, Late-Onset			PMID:27111571	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:39164	NM_198578.3(LRRK2):c.3342A>G (p.Leu1114=)	NCBITaxon:9606	Homo sapiens	NCBIGene:120892	LRRK2	GENO:0000840	pathogenic_for_condition	OMIM:607060	autosomal dominant Parkinson disease 8				http://data.monarchinitiative.org/ttl/clinvar.ttl	direct
ClinVarVariant:2410	PINK1, 3-BP INS, 1602CAA	NCBITaxon:9606	Homo sapiens	NCBIGene:102464833	MIR6084	GENO:0000840	pathogenic_for_condition	OMIM:605909	Parkinson Disease 6, Autosomal Recessive Early-Onset			PMID:15970950	http://data.monarchinitiative.org/ttl/clinvar.ttl	direct