Mercurial > repos > nathandunn > monarchinitiative
comparison test-data/variants-for-diseases-union.tsv @ 0:850bb90bd667 draft
planemo upload commit b529f45bf9fecbac1457a65b6b81e3b95200fced
| author | nathandunn |
|---|---|
| date | Sun, 26 Jun 2016 16:00:28 -0400 |
| parents | |
| children | 61d8060bf2ed |
comparison
equal
deleted
inserted
replaced
| -1:000000000000 | 0:850bb90bd667 |
|---|---|
| 1 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 | |
| 2 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 | |
| 3 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 | |
| 4 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 | |
| 5 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 | |
| 6 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 | |
| 7 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 | |
| 8 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 | |
| 9 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 | |
| 10 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 | |
| 11 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 | |
| 12 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 | |
| 13 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 | |
| 14 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 | |
| 15 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 | |
| 16 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 | |
| 17 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 | |
| 18 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 | |
| 19 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 | |
| 20 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 | |
| 21 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 | |
| 22 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 | |
| 23 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 | |
| 24 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 | |
| 25 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 | |
| 26 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 | |
| 27 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 | |
| 28 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 | |
| 29 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 | |
| 30 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 | |
| 31 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 | |
| 32 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 | |
| 33 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 | |
| 34 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 | |
| 35 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 | |
| 36 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 | |
| 37 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 | |
| 38 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 | |
| 39 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 | |
| 40 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 | |
| 41 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 | |
| 42 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 | |
| 43 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 | |
| 44 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 | |
| 45 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 | |
| 46 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 | |
| 47 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 | |
| 48 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 | |
| 49 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 | |
| 50 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 | |
| 51 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 | |
| 52 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 | |
| 53 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 | |
| 54 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 | |
| 55 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 | |
| 56 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 | |
| 57 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 | |
| 58 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 | |
| 59 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 | |
| 60 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 | |
| 61 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 | |
| 62 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 | |
| 63 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 | |
| 64 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 | |
| 65 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 | |
| 66 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 | |
| 67 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 | |
| 68 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 | |
| 69 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 | |
| 70 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 | |
| 71 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 | |
| 72 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 | |
| 73 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 | |
| 74 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 | |
| 75 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 | |
| 76 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 | |
| 77 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 | |
| 78 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 | |
| 79 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 | |
| 80 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 | |
| 81 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 | |
| 82 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 | |
| 83 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 | |
| 84 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 | |
| 85 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 | |
| 86 ClinVarVariant:14009 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens OMIM:168601 autosomal dominant Parkinson disease 1 http://data.monarchinitiative.org/ttl/coriell.ttl inferred | |
| 87 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 | |
| 88 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 | |
| 89 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 | |
| 90 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 | |
| 91 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 | |
| 92 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 | |
| 93 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 | |
| 94 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 | |
| 95 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 | |
| 96 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 | |
| 97 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 | |
| 98 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 | |
| 99 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 | |
| 100 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 | |
| 101 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 | |
| 102 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 | |
| 103 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 | |
| 104 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 | |
| 105 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 | |
| 106 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 | |
| 107 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 | |
| 108 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 | |
| 109 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 | |
| 110 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 | |
| 111 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 | |
| 112 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 | |
| 113 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 | |
| 114 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 | |
| 115 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 | |
| 116 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 | |
| 117 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 | |
| 118 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 | |
| 119 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 | |
| 120 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 | |
| 121 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 | |
| 122 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 | |
| 123 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 | |
| 124 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 | |
| 125 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 | |
| 126 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 | |
| 127 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 | |
| 128 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 | |
| 129 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 | |
| 130 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 | |
| 131 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 | |
| 132 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 | |
| 133 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 | |
| 134 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 | |
| 135 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 | |
| 136 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 | |
| 137 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 | |
| 138 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 | |
| 139 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 | |
| 140 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 | |
| 141 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 | |
| 142 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 | |
| 143 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 | |
| 144 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 | |
| 145 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 | |
| 146 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 | |
| 147 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 | |
| 148 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 | |
| 149 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 | |
| 150 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 | |
| 151 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 | |
| 152 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 | |
| 153 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 | |
| 154 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 | |
| 155 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 | |
| 156 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 | |
| 157 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 | |
| 158 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 | |
| 159 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 | |
| 160 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 | |
| 161 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 | |
| 162 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 | |
| 163 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 | |
| 164 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 | |
| 165 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 | |
| 166 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 | |
| 167 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 | |
| 168 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 | |
| 169 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 | |
| 170 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 | |
| 171 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 | |
| 172 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 | |
| 173 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 | |
| 174 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 | |
| 175 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 | |
| 176 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 | |
| 177 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 | |
| 178 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 | |
| 179 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 | |
| 180 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 | |
| 181 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 | |
| 182 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 | |
| 183 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 | |
| 184 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 | |
| 185 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 | |
| 186 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 | |
| 187 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 | |
| 188 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 | |
| 189 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 | |
| 190 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 | |
| 191 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 | |
| 192 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 | |
| 193 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 | |
| 194 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 | |
| 195 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 | |
| 196 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 | |
| 197 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 | |
| 198 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 | |
| 199 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 | |
| 200 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 | |
| 201 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 | |
| 202 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 | |
| 203 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 | |
| 204 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 | |
| 205 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 | |
| 206 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 | |
| 207 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 | |
| 208 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 | |
| 209 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 | |
| 210 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 | |
| 211 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 | |
| 212 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 | |
| 213 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 | |
| 214 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 | |
| 215 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 | |
| 216 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 | |
| 217 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 | |
| 218 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 | |
| 219 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 | |
| 220 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 | |
| 221 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 | |
| 222 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 | |
| 223 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 | |
| 224 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 | |
| 225 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 | |
| 226 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 | |
| 227 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 | |
| 228 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 | |
| 229 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 | |
| 230 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 | |
| 231 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 | |
| 232 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 | |
| 233 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 | |
| 234 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 | |
| 235 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 | |
| 236 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 | |
| 237 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 | |
| 238 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 | |
| 239 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 | |
| 240 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 | |
| 241 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 | |
| 242 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 | |
| 243 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 | |
| 244 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 | |
| 245 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 | |
| 246 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 | |
| 247 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 | |
| 248 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 | |
| 249 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 | |
| 250 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 | |
| 251 dbSNP:rs34637584 rs34637584-A NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred | |
| 252 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 | |
| 253 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 | |
| 254 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 | |
| 255 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 | |
| 256 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 | |
| 257 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 | |
| 258 ClinVarVariant:7055 PARK2, EX5-6 DEL NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred | |
| 259 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 | |
| 260 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 | |
| 261 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 | |
| 262 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 | |
| 263 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 | |
| 264 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 | |
| 265 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 | |
| 266 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 | |
| 267 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 | |
| 268 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 | |
| 269 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 | |
| 270 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 | |
| 271 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 | |
| 272 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 | |
| 273 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 | |
| 274 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 | |
| 275 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 | |
| 276 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 | |
| 277 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 | |
| 278 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 | |
| 279 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 | |
| 280 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 | |
| 281 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 | |
| 282 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 | |
| 283 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 | |
| 284 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 | |
| 285 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 | |
| 286 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 | |
| 287 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 | |
| 288 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 | |
| 289 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 | |
| 290 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 | |
| 291 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 | |
| 292 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 | |
| 293 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 | |
| 294 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 | |
| 295 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 | |
| 296 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 | |
| 297 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 | |
| 298 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 | |
| 299 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 | |
| 300 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 | |
| 301 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 | |
| 302 ClinVarVariant:14009 SNCA, TRIPLICATION NCBITaxon:9606 Homo sapiens OMIM:168600 Parkinson Disease, Late-Onset http://data.monarchinitiative.org/ttl/coriell.ttl inferred | |
| 303 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 | |
| 304 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 | |
| 305 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 | |
| 306 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 | |
| 307 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 | |
| 308 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 | |
| 309 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 | |
| 310 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 | |
| 311 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 | |
| 312 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 | |
| 313 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 | |
| 314 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 | |
| 315 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 | |
| 316 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 |