Mercurial > repos > nathandunn > monarchinitiative
view test-data/variants-for-disease.tsv @ 1:7ae426ca9054 draft
planemo upload commit b538202f822ef9ce7af7f1ff2867dd1455b83725
| author | nathandunn |
|---|---|
| date | Sun, 26 Jun 2016 16:24:15 -0400 |
| parents | 850bb90bd667 |
| children | 61d8060bf2ed |
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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