### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SNCA)
# charset = UTF-8

## Genes ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{name}}"	"{{chromosome}}"	"{{chrom_band}}"	"{{imprinting}}"	"{{refseq_genomic}}"	"{{refseq_UD}}"	"{{reference}}"	"{{url_homepage}}"	"{{url_external}}"	"{{allow_download}}"	"{{id_hgnc}}"	"{{id_entrez}}"	"{{id_omim}}"	"{{show_hgmd}}"	"{{show_genecards}}"	"{{show_genetests}}"	"{{show_orphanet}}"	"{{note_index}}"	"{{note_listing}}"	"{{refseq}}"	"{{refseq_url}}"	"{{disclaimer}}"	"{{disclaimer_text}}"	"{{header}}"	"{{header_align}}"	"{{footer}}"	"{{footer_align}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{updated_by}}"	"{{updated_date}}"
"SNCA"	"synuclein, alpha (non A4 component of amyloid precursor)"	"4"	"q21.3-q22"	"unknown"	"NG_011851.1"	"UD_132085393913"	""	"https://www.LOVD.nl/SNCA"	""	"1"	"11138"	"6622"	"163890"	"1"	"1"	"1"	"1"	"<b>A Parkinson\'s disease Mutation Database</b>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/SNCA_codingDNA.html"	"1"	""	"<b>A Parkinson\'s disease Mutation Database</b>"	"-1"	""	"-1"	"00001"	"2008-05-19 00:00:00"	"00006"	"2020-10-02 16:06:55"	"00000"	"2025-07-08 13:22:38"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00019533"	"SNCA"	"transcript variant 1"	"002"	"NM_000345.3"	""	"NP_000336.1"	""	""	""	"-263"	"2952"	"423"	"90758350"	"90645250"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01294"	"DLB"	"dementia, Lewy body"	"AD"	"127750"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01493"	"PARK1"	"Parkinson disease, type 1 (PARK-1)"	"AD"	"168601"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02553"	"PARK4"	"Parkinson disease, type 4 (PARK-4)"	"AD"	"605543"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05613"	"PARK"	"Parkinson disease (PARK)"	""	""	""	""	""	"00006"	"2019-06-19 16:46:42"	"00006"	"2019-06-19 16:46:58"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"SNCA"	"01294"
"SNCA"	"01493"
"SNCA"	"02553"


## Individuals ## Do not remove or alter this header ##
## Count = 20
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00312643"	""	""	""	"1"	""	"02176"	"{PMID:Chartier-Harlin 2004:15451224}"	"1/9 families"	""	""	""	""	"0"	""	""	""	""
"00312644"	""	""	""	"2"	""	"02176"	"{PMID:Ibanez 2004:15451225}"	"2/119 PD cases"	""	""	""	""	"0"	""	""	""	""
"00312645"	""	""	""	"2"	""	"02176"	"{PMID:Nishioka 2006:16358335} {PMID:Obi 2008:18195271}"	"familial AD-PD"	""	""	"Japan"	""	"0"	""	""	""	""
"00312646"	""	""	""	"1"	""	"02176"	"{PMID:Ikeuchi 2008:18413475}"	"1 hom, 3het"	""	""	""	""	"0"	""	""	""	""
"00312647"	""	""	""	"3"	""	"03798"	"{PMID:Ahn et al:17625105}"	"1 familial, 2 sporadic cases of 906 PD patients, each patient had asymptomatic carriers in their families. The familial case had early onset parkinsonism with rapidly progressive course, cognitive impairment, and dysautonomia. Sporadic cases were more typical of PD."	""	""	"Korea"	""	"0"	""	""	""	""
"00312648"	""	""	""	"1"	""	"02176"	"{PMID:Ikeuchi 2008:18413475}"	"Four-generation family, 3 patients were heterozygous for SNCA duplication and 1 patient was homozygous for SNCA duplication. The homozygous patient showed earlier age at onset and earlier death, with more severe cognitive impairment than the heterozygous patients."	""	""	"Japan"	""	"0"	""	""	""	""
"00312649"	""	""	""	"1"	""	"02176"	"{PMID:Brueggemann 2008:18852448}"	"1/403; 0.25%, negative family history,early onset idiopathic PD, frontal release signs and bilateral horizontal gaze-evoked nystagmus, L-Dopa responsive"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00312650"	""	""	""	"1"	""	"02176"	"{PMID:Troiano 2008:18852449}"	"1/101 early onset sporadic PD; European (84%), North African (4%)"	"F"	""	""	""	"0"	""	""	""	""
"00312651"	""	""	""	"1"	""	"02176"	"{PMID:Uchiyama 2008:18852445}"	"family (mother, son affected), psychiatric symptoms including attention impairment and visual hallucinations"	""	""	""	""	"0"	""	""	"Japanese"	""
"00312652"	""	""	""	"2"	""	"02176"	"{PMID:Ibáñez 2009:19139307}"	"4/264 (1.5%) typical ADPD, 2 patients published earlier in Ibanez et al 2004 and Chartier-Harlin et al 2004,"	""	""	""	""	"0"	""	""	"Mainly European"	""
"00312653"	""	""	""	"5"	""	"02176"	"{PMID:Nishioka 2009:19562770}"	"4 new families, 1 sporadic patient out of 103 consecutive patients with autosomal dominant PD, overall penetrance 43.8%, Family A and B previously reported"	""	""	"Japan"	""	"0"	""	""	""	""
"00312654"	""	""	""	"1"	""	"02176"	"{PMID:Sironi 2009:19833540}"	"1/144, patient showed rapidly progressive disease with early motor complications"	"F"	""	"Italy"	""	"0"	""	""	""	""
"00312655"	""	""	""	"1"	""	"02176"	"{PMID:Singleton 2003:14593171}"	"Iowa kindred"	""	""	""	""	"0"	""	""	"white"	""
"00312656"	""	""	""	"1"	""	"02176"	"{PMID:Farrer 2004:14755720}"	"linked to a family described by Mjones (1949); different branch of family found with duplication of the SNCA gene"	"M"	""	"Sweden"	""	"0"	""	""	""	""
"00312657"	""	""	""	"1"	""	"02176"	"{PMID:Ibáñez 2009:19139307}"	"1/22 (4.5%) atypical AD parkinsonism- triplication"	""	""	""	""	"0"	""	""	"Mostly European"	""
"00312658"	""	""	""	"0"	""	"02176"	"{PMID:Kruger 1988:9462735}"	""	""	""	""	""	"0"	""	""	""	""
"00312659"	""	""	""	"0"	""	"02176"	"{PMID:Zarranz 2004:14755719}"	""	""	""	""	""	"0"	""	""	""	""
"00312660"	""	""	""	"1"	""	"02176"	"{PMID:Kiely 2013:23404372}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	"LDopa responsive"	""	""
"00312662"	""	""	""	"0"	""	"02176"	"{PMID:Markopoulou 2008:18389263}"	""	""	""	""	""	"0"	""	""	""	""
"00312663"	""	""	""	"0"	""	"02176"	"{PMID:Polymeropoulos 1997:9197268}"	""	""	""	""	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 20
"{{individualid}}"	"{{diseaseid}}"
"00312643"	"05613"
"00312644"	"05613"
"00312645"	"05613"
"00312646"	"05613"
"00312647"	"05613"
"00312648"	"05613"
"00312649"	"05613"
"00312650"	"05613"
"00312651"	"05613"
"00312652"	"05613"
"00312653"	"05613"
"00312654"	"05613"
"00312655"	"05613"
"00312656"	"05613"
"00312657"	"05613"
"00312658"	"05613"
"00312659"	"00198"
"00312660"	"05613"
"00312662"	"05613"
"00312663"	"05613"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01294, 01493, 02553, 05613
## Count = 20
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000237735"	"05613"	"00312643"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"late onset Parkinsons disease"	""
"0000237736"	"05613"	"00312644"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"late onset Parkinsons disease"	""
"0000237737"	"05613"	"00312645"	"02176"	"-"	""	"PatB-1 onset 47y"	""	""	""	""	""	""	""	""	""	"late onset Parkinsons disease"	""
"0000237738"	"05613"	"00312646"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"late onset Parkinsons disease"	""
"0000237739"	"05613"	"00312647"	"03798"	"-"	""	""	""	""	""	""	""	""	""	""	""	"early onset Parkinsons disease"	""
"0000237740"	"05613"	"00312648"	"02176"	"-"	""	"onset 28y (homozygous), 39y-71y (heterozygous)"	""	""	""	""	""	""	""	""	""	"Parkinsons disease"	""
"0000237741"	"05613"	"00312649"	"02176"	"-"	""	""	"38y"	""	""	""	""	""	""	""	""	"Parkinsons disease"	""
"0000237742"	"05613"	"00312650"	"02176"	"-"	""	""	"35y"	""	""	""	""	""	""	""	""	"Parkinsons disease"	""
"0000237743"	"05613"	"00312651"	"02176"	"-"	""	"onset 47y (M), 73y (F)"	""	""	""	""	""	""	""	""	""	"Parkinsons disease, DLB"	""
"0000237744"	"05613"	"00312652"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"ADPD"	""
"0000237745"	"05613"	"00312653"	"02176"	"-"	""	""	"31y-62y"	""	""	""	""	""	""	""	""	"Parkinsons disease"	""
"0000237746"	"05613"	"00312654"	"02176"	"-"	""	""	"41y"	""	""	""	""	""	""	""	""	"familial Parkinsons disease"	""
"0000237747"	"05613"	"00312655"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"early onset Parkinsons disease, dementia"	""
"0000237748"	"05613"	"00312656"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"early onset Parkinsons disease, dementia"	""
"0000237749"	"05613"	"00312657"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"AD parkinsonism"	""
"0000237750"	"05613"	"00312658"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"late onset Parkinsons disease, dementia"	""
"0000237751"	"00198"	"00312659"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"DLB"	""
"0000237752"	"05613"	"00312660"	"02176"	"-"	""	"bradykinesia; resting tremor (HP:0002322); rigidity (HP:0002063); postural instability (HP:0002172); asymmetric onset; no dystonia (-HP:0001332); normal REM sleep (-HP:0002494); visual and verbal memory impairments, later developed visual hallucinations, last 8y seizures; progressive cognitive impairment; atrophy affecting frontal and temporal lobes, caudate, putamen, globus pallidus, and amygdala, neuronal loss; father developed similar symptoms at 39y, later developed dementia, 47y-died; sister developed parkinsonism at age 40, no cognitive impairment, still living at time of report."	"19y"	""	""	""	""	""	""	""	""	"early onset Parkinsons disease"	""
"0000237754"	"05613"	"00312662"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"Parkinsons disease"	""
"0000237755"	"05613"	"00312663"	"02176"	"-"	""	""	""	""	""	""	""	""	""	""	""	"early onset Parkinsons disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 20
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000313815"	"00312643"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	"02176"	"2009-10-16 07:11:12"	"PCRq"	"DNA"	""	""
"0000313816"	"00312644"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	"02176"	"2008-06-23 07:37:24"	"PCRq"	"DNA"	""	""
"0000313817"	"00312645"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	"02176"	"2009-10-16 06:18:14"	"PCRq"	"DNA"	""	""
"0000313818"	"00312646"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	"02176"	"2009-10-16 07:27:46"	"PCRq"	"DNA"	""	""
"0000313819"	"00312647"	"1"	"03798"	"03798"	"2009-05-05 22:52:35"	"02176"	"2009-10-16 05:28:00"	"PCRq"	"DNA"	""	""
"0000313820"	"00312648"	"1"	"02176"	"02176"	"2009-10-16 06:03:11"	""	""	"PCRq"	"DNA"	""	""
"0000313821"	"00312649"	"1"	"02176"	"02176"	"2009-10-16 06:32:01"	""	""	"PCRq"	"DNA"	""	""
"0000313822"	"00312650"	"1"	"02176"	"02176"	"2009-10-16 06:43:37"	""	""	"MLPA"	"DNA"	""	""
"0000313823"	"00312651"	"1"	"02176"	"02176"	"2009-10-16 06:52:59"	""	""	"PCRq"	"DNA"	""	""
"0000313824"	"00312652"	"1"	"02176"	"02176"	"2009-10-16 06:59:17"	"02176"	"2009-10-16 07:07:02"	"PCRq"	"DNA"	""	""
"0000313825"	"00312653"	"1"	"02176"	"02176"	"2009-10-16 07:25:44"	""	""	"PCRq"	"DNA"	""	""
"0000313826"	"00312654"	"1"	"02176"	"02176"	"2009-10-19 10:58:44"	""	""	"PCRq"	"DNA"	""	""
"0000313827"	"00312655"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	"02176"	"2008-06-23 07:25:36"	"PCRq"	"DNA"	""	""
"0000313828"	"00312656"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	"02176"	"2008-06-23 07:30:36"	"PCRq"	"DNA"	""	""
"0000313829"	"00312657"	"1"	"02176"	"02176"	"2009-10-16 07:03:58"	""	""	"PCRq"	"DNA"	""	""
"0000313830"	"00312658"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	""	""	"SEQ"	"DNA"	""	""
"0000313831"	"00312659"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	""	""	"SEQ"	"DNA"	""	""
"0000313832"	"00312660"	"1"	"02176"	"02176"	"2015-01-23 20:16:04"	"02176"	"2015-01-23 20:23:41"	"SEQ"	"DNA"	""	""
"0000313834"	"00312662"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	""	""	"SEQ"	"DNA"	""	""
"0000313835"	"00312663"	"1"	"02176"	"02176"	"2008-06-12 21:31:38"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 20
"{{screeningid}}"	"{{geneid}}"
"0000313815"	"SNCA"
"0000313816"	"SNCA"
"0000313817"	"SNCA"
"0000313818"	"SNCA"
"0000313819"	"SNCA"
"0000313820"	"SNCA"
"0000313821"	"SNCA"
"0000313822"	"SNCA"
"0000313823"	"SNCA"
"0000313824"	"SNCA"
"0000313825"	"SNCA"
"0000313826"	"SNCA"
"0000313827"	"SNCA"
"0000313828"	"SNCA"
"0000313829"	"SNCA"
"0000313830"	"SNCA"
"0000313831"	"SNCA"
"0000313832"	"SNCA"
"0000313834"	"SNCA"
"0000313835"	"SNCA"


## Variants_On_Genome ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Count = 33
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Restriction_site}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/Genetic_origin}}"	"{{VariantOnGenome/Segregation}}"	"{{VariantOnGenome/dbSNP}}"	"{{VariantOnGenome/VIP}}"	"{{VariantOnGenome/Methylation}}"	"{{VariantOnGenome/ISCN}}"	"{{VariantOnGenome/DNA/hg38}}"	"{{VariantOnGenome/ClinVar}}"	"{{VariantOnGenome/ClinicalClassification}}"	"{{VariantOnGenome/ClinicalClassification/Method}}"
"0000308663"	"0"	"10"	"4"	"90749508"	"90749509"	"del"	"0"	"01943"	"SNCA_000014"	"g.90749508_90749509del"	""	""	""	"SNCA(NM_000345.3):c.122-174_122-173delCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89828357_89828358del"	""	"benign"	""
"0000308664"	"0"	"50"	"4"	"90743488"	"90743488"	"subst"	"4.062E-6"	"01943"	"SNCA_000013"	"g.90743488G>A"	""	""	""	"SNCA(NM_000345.3):c.215C>T (p.T72M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89822337G>A"	""	"VUS"	""
"0000308666"	"0"	"30"	"4"	"90647794"	"90647794"	"subst"	"0.00217189"	"01943"	"SNCA_000012"	"g.90647794G>A"	""	""	""	"SNCA(NM_000345.3):c.408C>T (p.Y136=), SNCA(NM_000345.4):c.408C>T (p.Y136=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89726643G>A"	""	"likely benign"	""
"0000345042"	"0"	"50"	"4"	"90650425"	"90650425"	"subst"	"0"	"02327"	"SNCA_000015"	"g.90650425C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.89729274C>T"	""	"VUS"	""
"0000523519"	"0"	"30"	"4"	"90647794"	"90647794"	"subst"	"0.00217189"	"02329"	"SNCA_000012"	"g.90647794G>A"	""	""	""	"SNCA(NM_000345.3):c.408C>T (p.Y136=), SNCA(NM_000345.4):c.408C>T (p.Y136=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89726643G>A"	""	"likely benign"	""
"0000523520"	"0"	"30"	"4"	"90650365"	"90650365"	"subst"	"4.06749E-6"	"01943"	"SNCA_000016"	"g.90650365C>T"	""	""	""	"SNCA(NM_000345.3):c.370G>A (p.A124T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89729214C>T"	""	"likely benign"	""
"0000523521"	"0"	"10"	"4"	"90743319"	"90743319"	"dup"	"0"	"01943"	"SNCA_000017"	"g.90743319dup"	""	""	""	"SNCA(NM_000345.3):c.306+79dupG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89822168dup"	""	"benign"	""
"0000523522"	"0"	"30"	"4"	"90743487"	"90743487"	"subst"	"0.00024774"	"01943"	"SNCA_000018"	"g.90743487C>T"	""	""	""	"SNCA(NM_000345.3):c.216G>A (p.T72=), SNCA(NM_000345.4):c.216G>A (p.T72=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89822336C>T"	""	"likely benign"	""
"0000523524"	"0"	"30"	"4"	"90749313"	"90749313"	"subst"	"0"	"01943"	"SNCA_000010"	"g.90749313C>G"	""	""	""	"SNCA(NM_000345.3):c.144G>C (p.V48=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89828162C>G"	""	"likely benign"	""
"0000609331"	"0"	"30"	"4"	"90743487"	"90743487"	"subst"	"0.00024774"	"02329"	"SNCA_000018"	"g.90743487C>T"	""	""	""	"SNCA(NM_000345.3):c.216G>A (p.T72=), SNCA(NM_000345.4):c.216G>A (p.T72=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89822336C>T"	""	"likely benign"	""
"0000621430"	"0"	"50"	"4"	"90756775"	"90756775"	"subst"	"0"	"01943"	"SNCA_000011"	"g.90756775A>G"	""	""	""	"SNCA(NM_000345.3):c.44T>C (p.V15A), SNCA(NM_000345.4):c.44T>C (p.V15A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.89835624A>G"	""	"VUS"	""
"0000695722"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Chartier-Harlin 2004:15451224}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695723"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Ibanez 2004:15451225}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695724"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	"2/113 families"	"{PMID:Nishioka 2006:16358335} {PMID:Obi 2008:18195271}"	""	"genomic duplication"	"confirmed with FISH"	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695725"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Ikeuchi 2008:18413475}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695726"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"03798"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Ahn et al:17625105}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695727"	"3"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Ikeuchi 2008:18413475}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695728"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Brueggemann 2008:18852448}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695729"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Troiano 2008:18852449}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695730"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Uchiyama 2008:18852445}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695731"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Ibáñez 2009:19139307}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695732"	"0"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Nishioka 2009:19562770}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695733"	"20"	"99"	"4"	"90645250"	"90758350"	""	"0"	"02176"	"SNCA_000004"	"g.(?_90645250)_(90758350_?)dup"	""	"{PMID:Sironi 2009:19833540}"	""	"genomic duplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)dup"	""	"pathogenic (dominant)"	""
"0000695734"	"0"	"99"	"4"	"0"	"0"	""	"0"	"02176"	"SNCA_000005"	"g.(?_90645250)_(90758350_?)[3]"	""	"{PMID:Singleton 2003:14593171}"	""	"genomic triplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)[3]"	""	"pathogenic (dominant)"	""
"0000695735"	"0"	"99"	"4"	"0"	"0"	""	"0"	"02176"	"SNCA_000005"	"g.(?_90645250)_(90758350_?)[3]"	""	"{PMID:Farrer 2004:14755720}"	""	"genomic triplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)[3]"	""	"pathogenic (dominant)"	""
"0000695736"	"0"	"99"	"4"	"0"	"0"	""	"0"	"02176"	"SNCA_000005"	"g.(?_90645250)_(90758350_?)[3]"	""	"{PMID:Ibáñez 2009:19139307}"	""	"genomic triplication"	""	"Germline"	""	""	"0"	""	""	"g.(?_89724099)_(89837199_?)[3]"	""	"pathogenic (dominant)"	""
"0000695737"	"0"	"99"	"4"	"90756731"	"90756731"	"subst"	"0"	"02176"	"SNCA_000001"	"g.90756731C>G"	"2 affected, 1 carrier"	"{PMID:Kruger 1988:9462735}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89835580C>G"	""	"pathogenic (dominant)"	""
"0000695738"	"0"	"99"	"4"	"90749321"	"90749321"	"subst"	"0"	"02176"	"SNCA_000002"	"g.90749321C>T"	"5 affected, 3 carrier"	"{PMID:Zarranz 2004:14755719}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89828170C>T"	""	"pathogenic (dominant)"	""
"0000695739"	"11"	"77"	"4"	"90749305"	"90749305"	"subst"	"0"	"02176"	"SNCA_000006"	"g.90749305C>T"	""	"{PMID:Kiely 2013:23404372}"	""	""	"clinical features similar to p.A53T; segregated with family, not seen in >4,500 control individuals"	"Germline"	""	""	"0"	""	""	"g.89828154C>T"	""	"likely pathogenic (dominant)"	""
"0000695741"	"0"	"99"	"4"	"90749300"	"90749300"	"subst"	"0"	"02176"	"SNCA_000003"	"g.90749300C>T"	"2 cases"	"{PMID:Markopoulou 2008:18389263}"	""	""	"combined with polymorphism S167N"	"Germline"	""	""	"0"	""	""	"g.89828149C>T"	""	"pathogenic (dominant)"	""
"0000695742"	"0"	"99"	"4"	"90749300"	"90749300"	"subst"	"0"	"02176"	"SNCA_000003"	"g.90749300C>T"	"2 cases"	"{PMID:Polymeropoulos 1997:9197268}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.89828149C>T"	""	"pathogenic (dominant)"	""
"0001034733"	"0"	"70"	"4"	"90756775"	"90756775"	"subst"	"0"	"02325"	"SNCA_000011"	"g.90756775A>G"	""	""	""	"SNCA(NM_000345.3):c.44T>C (p.V15A), SNCA(NM_000345.4):c.44T>C (p.V15A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001045979"	"0"	"70"	"4"	"90756775"	"90756775"	"subst"	"0"	"02327"	"SNCA_000011"	"g.90756775A>G"	""	""	""	"SNCA(NM_000345.3):c.44T>C (p.V15A), SNCA(NM_000345.4):c.44T>C (p.V15A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes SNCA
## Count = 33
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/Exon}}"
"0000308663"	"00019533"	"10"	"122"	"-174"	"122"	"-173"	"c.122-174_122-173del"	"r.(=)"	"p.(=)"	""
"0000308664"	"00019533"	"50"	"215"	"0"	"215"	"0"	"c.215C>T"	"r.(?)"	"p.(Thr72Met)"	""
"0000308666"	"00019533"	"30"	"408"	"0"	"408"	"0"	"c.408C>T"	"r.(?)"	"p.(Tyr136=)"	""
"0000345042"	"00019533"	"50"	"310"	"0"	"310"	"0"	"c.310G>A"	"r.(?)"	"p.(Glu104Lys)"	""
"0000523519"	"00019533"	"30"	"408"	"0"	"408"	"0"	"c.408C>T"	"r.(?)"	"p.(Tyr136=)"	""
"0000523520"	"00019533"	"30"	"370"	"0"	"370"	"0"	"c.370G>A"	"r.(?)"	"p.(Ala124Thr)"	""
"0000523521"	"00019533"	"10"	"306"	"79"	"306"	"79"	"c.306+79dup"	"r.(=)"	"p.(=)"	""
"0000523522"	"00019533"	"30"	"216"	"0"	"216"	"0"	"c.216G>A"	"r.(?)"	"p.(Thr72=)"	""
"0000523524"	"00019533"	"30"	"144"	"0"	"144"	"0"	"c.144G>C"	"r.(?)"	"p.(Val48=)"	""
"0000609331"	"00019533"	"30"	"216"	"0"	"216"	"0"	"c.216G>A"	"r.(?)"	"p.(Thr72=)"	""
"0000621430"	"00019533"	"50"	"44"	"0"	"44"	"0"	"c.44T>C"	"r.(?)"	"p.(Val15Ala)"	""
"0000695722"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695723"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695724"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695725"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695726"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695727"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695728"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695729"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695730"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695731"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695732"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695733"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{2}"	"r.?"	"p.?"	"_1_6_"
"0000695734"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{3}"	"r.?"	"p.?"	"_1_6_"
"0000695735"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{3}"	"r.?"	"p.?"	"_1_6_"
"0000695736"	"00019533"	"99"	"0"	"0"	"0"	"0"	"c.-263_*2529{3}"	"r.?"	"p.?"	"_1_6_"
"0000695737"	"00019533"	"99"	"88"	"0"	"88"	"0"	"c.88G>C"	"r.(?)"	"p.(Ala30Pro)"	"2"
"0000695738"	"00019533"	"99"	"136"	"0"	"136"	"0"	"c.136G>A"	"r.(?)"	"p.(Glu46Lys)"	"3"
"0000695739"	"00019533"	"77"	"152"	"0"	"152"	"0"	"c.152G>A"	"r.(?)"	"p.(Gly51Asp)"	"3"
"0000695741"	"00019533"	"99"	"157"	"0"	"157"	"0"	"c.157G>A"	"r.(?)"	"p.(Ala53Thr)"	"3"
"0000695742"	"00019533"	"99"	"157"	"0"	"157"	"0"	"c.157G>A"	"r.(?)"	"p.(Ala53Thr)"	"3"
"0001034733"	"00019533"	"70"	"44"	"0"	"44"	"0"	"c.44T>C"	"r.(?)"	"p.(Val15Ala)"	""
"0001045979"	"00019533"	"70"	"44"	"0"	"44"	"0"	"c.44T>C"	"r.(?)"	"p.(Val15Ala)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 20
"{{screeningid}}"	"{{variantid}}"
"0000313815"	"0000695722"
"0000313816"	"0000695723"
"0000313817"	"0000695724"
"0000313818"	"0000695725"
"0000313819"	"0000695726"
"0000313820"	"0000695727"
"0000313821"	"0000695728"
"0000313822"	"0000695729"
"0000313823"	"0000695730"
"0000313824"	"0000695731"
"0000313825"	"0000695732"
"0000313826"	"0000695733"
"0000313827"	"0000695734"
"0000313828"	"0000695735"
"0000313829"	"0000695736"
"0000313830"	"0000695737"
"0000313831"	"0000695738"
"0000313832"	"0000695739"
"0000313834"	"0000695741"
"0000313835"	"0000695742"