### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DLG4)
# 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}}"
"DLG4"	"discs, large homolog 4 (Drosophila)"	"17"	"p13.1"	"unknown"	"NG_008391.3"	"UD_132118913276"	""	"https://www.LOVD.nl/DLG4"	""	"1"	"2903"	"1742"	"602887"	"1"	"1"	"1"	"1"	"Establishment 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>. The Curators collaborate with the <a href=\'https://www.shinesyndrome.org\' target=\'_blank\'><img src=\"gfx/LOVD_logo_DGL4-Shinesyndrome.png\" width=\"150\">  SHINE syndrome patient organization</a>."	""	"g"	"http://databases.lovd.nl/shared/refseq/DLG4_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2022-11-24 14:05:01"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00025756"	"DLG4"	"discs large homolog 4 (DLG4), transcript variant 1"	"000"	"NM_001365.3"	""	"NP_001356.1"	""	""	""	"-1201"	"3122"	"2304"	"7123369"	"7093209"	"00006"	"2022-11-11 16:12:23"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"04282"	"CVI"	"cerebral visual impairment (CVI)"	""	""	""	""	""	"00006"	"2015-06-15 15:37:52"	"00006"	"2015-06-15 15:38:26"
"05533"	"MR;ID"	"mental retardation (MR, intellectual disability (ID))"	""	""	""	""	""	"00006"	"2018-12-18 09:22:07"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"06389"	"MRD62"	"Intellectual developmental disorder 62"	"AD"	"618793"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"DLG4"	"05533"
"DLG4"	"06389"


## Individuals ## Do not remove or alter this header ##
## Count = 59
"{{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}}"
"00039389"	""	""	""	"1"	""	"01158"	"{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}, {PMID:Lelieveld 2016:27479843}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	"no"	"Netherlands"	""	"0"	""	""	""	"Pat1/Pat77/Pat1"
"00050400"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00144382"	""	""	""	"1"	""	"01402"	"{PMID:Moutton 2018:29460436}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	"no"	"France"	"23y"	"0"	""	""	""	"P1/Pat46"
"00144395"	""	""	""	"1"	""	"01402"	"{PMID:Moutton 2018:29460436}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	"no"	"France"	"21y"	"0"	""	""	""	"P2/Pat24"
"00144396"	""	""	""	"1"	""	"01402"	"{PMID:Moutton 2018:29460436}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected parents"	"M"	"no"	"France"	"35y"	"0"	""	""	"white"	"P3/Pat41"
"00245886"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00392035"	""	""	""	"1"	""	"02494"	""	""	"F"	"no"	"Spain"	""	""	""	""	""	"140P"
"00412301"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	"199634"
"00418907"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat2"
"00418908"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00418909"	""	""	""	"2"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, affected monozygotis twin brothers, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00418910"	""	""	"00418909"	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"brother"	"M"	""	""	""	"0"	""	""	""	"Pat5"
"00418911"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"?/Pat6"
"00418912"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat7"
"00418913"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat8"
"00418914"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00418915"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat10"
"00418916"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat11"
"00418917"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat12"
"00418918"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat13"
"00418919"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat14"
"00418920"	""	""	""	"1"	""	"00006"	"{PMID:Xing 2016:27271353}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"analysis 562 cases (370 schizophrenia and 192 autism spectrum disorders); 2-generation family, affected mother/daughter"	"F"	""	""	""	"0"	""	""	""	"?/Pat15"
"00418921"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat16"
"00418922"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat17"
"00418923"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat18"
"00418924"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat19"
"00418925"	""	""	""	"1"	""	"00006"	"{PMID:Lelieveld 2016:27479843}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"747/Pat20"
"00418926"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier mother"	"M"	""	""	""	"0"	""	""	""	"Pat21"
"00418927"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat22"
"00418928"	""	""	""	"1"	""	"00006"	"{PMID:Xing 2016:27271353}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected parents"	""	""	""	""	"0"	""	""	""	"?/Pat23"
"00418930"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat25"
"00418931"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat26"
"00418932"	""	""	""	"1"	""	"00006"	"{PMID:Lelieveld 2016:27479843}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"706/Pat27"
"00418933"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat28"
"00418934"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat29"
"00418935"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat30"
"00418936"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat31"
"00418937"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat32"
"00418938"	""	""	""	"2"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, affected brothers, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat33"
"00418939"	""	""	"00418938"	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"brother"	"M"	""	""	""	"0"	""	""	""	"Pat34"
"00418940"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat35"
"00418941"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat36"
"00418942"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat37"
"00418943"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat38"
"00418944"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat39"
"00418945"	""	""	""	"1"	""	"00006"	"{PMID:Baker 2019:30577886}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"095574/Pat40"
"00418947"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat42"
"00418948"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat43"
"00418949"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat44"
"00418950"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat45"
"00418952"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat47"
"00418953"	""	""	""	"1"	""	"00006"	"{PMID:Rauch 2012:23020937}, {PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"ZH50527/Pat48"
"00418954"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat49"
"00418955"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat50"
"00418956"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat51"
"00418957"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat52"
"00418958"	""	""	""	"1"	""	"00006"	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	"2-generation family, 1 affected, unaffected non carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat53"
"00427820"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"163126"
"00436674"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"? (unknown)"	""	"0"	""	""	""	"269120"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 60
"{{individualid}}"	"{{diseaseid}}"
"00039389"	"00139"
"00039389"	"04282"
"00050400"	"00198"
"00144382"	"00198"
"00144395"	"00198"
"00144396"	"00198"
"00245886"	"00198"
"00392035"	"00139"
"00412301"	"06389"
"00418907"	"05611"
"00418908"	"05611"
"00418909"	"05611"
"00418910"	"05611"
"00418911"	"05611"
"00418912"	"05611"
"00418913"	"05611"
"00418914"	"05611"
"00418915"	"05611"
"00418916"	"05611"
"00418917"	"05611"
"00418918"	"05611"
"00418919"	"05611"
"00418920"	"05611"
"00418921"	"05611"
"00418922"	"05611"
"00418923"	"05611"
"00418924"	"05611"
"00418925"	"05611"
"00418926"	"05611"
"00418927"	"05611"
"00418928"	"05611"
"00418930"	"05611"
"00418931"	"05611"
"00418932"	"05611"
"00418933"	"05611"
"00418934"	"05611"
"00418935"	"05611"
"00418936"	"05611"
"00418937"	"05611"
"00418938"	"05611"
"00418939"	"05611"
"00418940"	"05611"
"00418941"	"05611"
"00418942"	"05611"
"00418943"	"05611"
"00418944"	"05611"
"00418945"	"05611"
"00418947"	"05611"
"00418948"	"05611"
"00418949"	"05611"
"00418950"	"05611"
"00418952"	"05611"
"00418953"	"05611"
"00418954"	"05611"
"00418955"	"05611"
"00418956"	"05611"
"00418957"	"05611"
"00418958"	"05611"
"00427820"	"06389"
"00436674"	"06389"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04282, 05533, 05611, 06389
## Count = 58
"{{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}}"
"0000034041"	"04282"	"00039389"	"00006"	"Isolated (sporadic)"	"05y"	"birth 39w, weight 3640g; height 118cm (P50), OFC 51,5cm (P40); delayed motor mevelopment; normal language development; intellectual disability; autism; normal muscle tone; no epilepsy; MRI normal; nystagmus; normal hearing; long eyelashes; full nasal tip, long columella; thin upper lip; large ears; joint laxity; fragmented palmar creases, short distal finger and toe phalanges, longitudinally grooved fingernails, fetal finger pads, syndactyly II-III toes, clinodactyly IV-V toes"	""	""	""	""	""	""	""	""	"MRD62"	""	""
"0000037012"	"00198"	"00050400"	"00006"	"Isolated (sporadic)"	""	"progressive microcephaly, deeply set eye, palpebral edema, short nose, narrow mouth, depressed nasal bridge, full cheeks, small feet, short palm, abnormality of the tragus"	""	""	""	""	""	""	""	""	""	""	""
"0000117173"	"00198"	"00144395"	"01402"	"Isolated (sporadic)"	"21y"	"normal pregnancy; birth at term, length 50cm, weight 3150g, OFC 35cm; weight normal, height 183.5cm; moderate intellectual disability; no autism; no epilepsy; MRI vermis atrophy; strabismus; long face; high-arched palate; pectus anomaly joint laxity; long and thin fingers; Marfanoid habitus;"	""	""	""	""	""	""	""	""	"MRD62"	"intellectual disability"	""
"0000117174"	"00198"	"00144396"	"01402"	"Unknown"	"35y"	"pregnancy decreased active fetal movement; birth 39w, length 48cm, weight 2850g; weight 70kg (P35), height 183cm (P80), OFC 56cm (P37); severely delayed language development; moderate intellectual disability; autism; 14y-epilepsy; MRI cortico-subcortical atrophy; strabismus; long face; high-arched palate; limited elbow extension, pectus anomaly; long and thin fingers; Marfanoid habitus; floppy mitral valve,;"	""	""	""	""	""	""	""	""	"MRD62"	"intellectual disability"	""
"0000117175"	"00198"	"00144382"	"01402"	"Isolated (sporadic)"	"23y"	"normal pregnancy; birth 38w, length 51cm, weight 3450g; weight 68kg (P50), height 173cm (P50), OFC 57cm (P95); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development (receptive); no regression; mild intellectual disability, IQ 56; no autism; anxiety; no attention deficit hyperactivity disorder; withdrawn behavior; dystonia; dystonia; no epilepsy; EEG normal; MRI normal; nystagmus; normal hearing; skin striae; long face; normal eyes; normal nose; normal philtrum; high-arched palate; normal chin; normal ears; dolichostenomelia; mild scoliosis joint laxity; long and thin fingers pes planus; Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"03y"	""	""	""	""	""	""	""	"MRD62"	"intellectual disability"	""
"0000185722"	"00198"	"00245886"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Absent speech (HP:0001344); Sleep disturbance (HP:0002360); Increased body weight (HP:0004324)"	""	""	""	""	""	""	""	""	""	""	""
"0000304306"	"06389"	"00412301"	"01164"	"Unknown"	"17y"	"Intellectual disability, moderate"	""	""	""	""	""	""	""	""	""	""	""
"0000310195"	"05611"	"00418907"	"00006"	"Isolated (sporadic)"	"10y"	"birth 40w, length 50cm, weight 3430g, OFC 34cm; weight 42kg (P65), height 137cm (P22), OFC 55cm (P75); delayed motor mevelopment, 20m-walk, normal gait; normal hand skills; normal language development; no regression; no language regression; no motor regression; mild intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; OCD, repetitive behaviours; no abnormal movements; normal muscle tone; 9y-epilepsy, generalized; EEG abnormal; MRI normal; hyperopia; normal hearing; eczema; long face; normal eyes; normal nose; normal philtrum; thin upper lip vermillon, wide mouth; normal chin; large ears, thick ears; no skeletal manifestations; brachydactyly,feet syndactyly II-III; no Marfanoid habitus; no heart/aorta defects; vomiting; no endocrine dysfunction; normal breathing; no bruxism; sleep problems; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310196"	"05611"	"00418908"	"00006"	"Unknown"	"15y"	"pregnancy mother on bipolar medications, nuchal cord, cyanosis at delivery but revived OK; birth 34w, length 46cm, weight 2386g; weight 61kg (P76), height 169.5cm (P86), OFC 55.1cm (P70); delayed motor mevelopment, normal gait; delayed hand skills use of utensils and writing; normal language development; no regression; no language regression; no motor regression; mild intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; hallucinations, suicidal ideations, thoughts of harming others (was sexually abused during childhood); tremors; normal muscle tone; no epilepsy; MRI normal; myopia; normal hearing; skin increased elasticity, striae on buttocks, hips, upper outer thighs and breasts; broad forehead midfacial hypoplasia; downslanting palpebral fissures; bulbous tip; normal philtrum; normal mouth; prognathism; ears protuberant superior helices slightly small; thoracic dextroscoliosis joint laxity; flat feet ankle pronation; Marfanoid habitus; borderline mitral valve prolapse, no heart/aorta defectsrmal aortic root size (Z-score 0.95); vomiting; no endocrine dysfunction; normal breathing; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; premenstrual symptoms, behavioral abnormalities; no genital malformations; no infection tendency"	"5y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310197"	"05611"	"00418909"	"00006"	"Isolated (sporadic)"	"6y6m"	"maternal pre-eclampsia with twin pregnancy prompting induction at 34w; birth 34w5d, length 43cm, weight 1786g, OFC 32cm; weight 17.6kg (P4), height 112cm (P11), OFC 49.6cm (P8); delayed motor mevelopment, deficits in motor planning and strengt, 2y-walk, low strength, hyperextensible limbs; delayed hand skills (impaired pincer grasp); mild delay language development (expressive>receptive, speaks in short sentences, difficulty with articulation); no regression; no language regression; no motor regression; mild intellectual disability; no autism; no anxiety; no attention deficit hyperactivity disorder; happy, hypersocial; no abnormal movements; hypotonia; no epilepsy; EEG normal; MRI normal; strabismus, hyperopia requiring surgery; normal hearing; normal skin; hyperextensible knees requiring afos joint laxity; normal hands/feet; Marfanoid habitus; no heart/aorta defects; reflux, early satiety, vomiting; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, restless w/ frequent nighttime awakening; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency"	"10m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310198"	"05611"	"00418910"	"00006"	"Isolated (sporadic)"	"6y6m"	"maternal pre-eclampsia with twin pregnancy prompting induction at 34w; birth 34w5d, length 48cm, weight 2551g, OFC 33cm; weight 19.3kg (P23), height 113cm (P18), OFC 51cm (P35); delayed motor mevelopment, deficits in motor planning and strength, 2y-walk, low strength, hyperextensible limbs; delayed hand skills (impaired pincer grasp); mild delay language development (expressive>receptive); no regression; no language regression; no motor regression; mild intellectual disability; no autism; separation anxiety, especially with change in environment; no attention deficit hyperactivity disorder; no abnormal movements; hypotonia; no epilepsy; EEG normal; strabismus, hyperopia requiring surgery; normal hearing; normal skin; hyperextensible knees requiring afos; normal hands/feet; Marfanoid habitus; no heart/aorta defects; feeding difficulties when younger; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, restless w/ frequent nighttime awakening; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency"	"9m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310199"	"05611"	"00418911"	"00006"	"Isolated (sporadic)"	"16y"	"pregnancy 26w-bleeding, otherwise normal; birth 38w, weight 2976 (p14)g; weight 78.8kg (P98), height 15y-161.9cm (P58), OFC 6y-51.5cm (p25-50); delayed motor mevelopment, ataxic gait; normal hand skills; speech 2y-first words, then stopped, 6y-no speech, currently nonverbal, communicates with ipad and paper symbols, uses eye poiting; 1-2y-regression; language regression; no motor regression; severe intellectual disability; autism; no anxiety; no attention deficit hyperactivity disorder; over friendly with strangers; stereotypies (hand flappng) ataxia; hypotonia; 15y-epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; square shaped face; blue eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis onset age 3 years, requiring surgery (titanium rod) age 14 years joint laxity; slightly large hands, soft and brittle nails; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; intense eye communication; no genital malformations; no infection tendency"	"1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310200"	"05611"	"00418912"	"00006"	"Isolated (sporadic)"	"7y"	"normal pregnancy; birth at term, length 53,3cm, weight 3628g; weight 26.4kg (P25-50), height 123cm (P50-75), OFC 54cm (P90-95); early motor milestones on target, delayed fine motor skills, normal gait; delayed hand skills; early speech milestones on target, further expressive language delayed, currently speaks in short phrases occasionally, otherwise nonverbal; 4y-regression; language regression; no motor regression; mild intellectual disability (6y6m IQ 69; no autism; no anxiety; no attention deficit hyperactivity disorder; hyperactive, dyspraxia; no abnormal movements; hyptonia; 7y-epilepsy, focal, refractory, ESES; EEG abnormal - multifocal spikes, ESES; MRI normal; 4y-elevated CPK; strabismus (left exotropia); normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; concern for precoucious puberty; normal breathing; sleep problems, abnormal breathing during sleep; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; no genital malformations; no infection tendency (normal immunology workup)"	"3y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310201"	"05611"	"00418913"	"00006"	"Isolated (sporadic)"	"2y"	"Caesarean due to maternal sepsis; birth 37w2d, weight 3516g; weight 8.3kg (P<1), height 80.8cm (P3), OFC 47cm (P19); MRI normal; hypertelorism synophrys thick eyebrows; small nasal base; full lips; single palmar creases; premature pubarche;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310202"	"05611"	"00418914"	"00006"	"Isolated (sporadic)"	"11y"	"induced delivery a few days past term Inhaled amniotic fluid, Agpar score low-normal, In incubator for 48 hours and 24 hours under light therapy for jaundice; birth 40w5d, length 51cm, weight 3800g; weight 31kg (P19), height 142cm (P25), OFC 53.5cm (P26); delayed motor mevelopment; delayed hand skills; delayed language development and echolalia for first 4 years, practically nonverbal since then; 4y-regression; language regression; 9y-motor regression, possibly caused by epilepsy and epileptic medications; severe intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; overly and inappropriately social, inappropriate spells of delirious laughter; very high sensory needs (seeks movement and noise/music); stereotypies ataxia; hypotonia; 9y-epilepsy, focal (frontal), good control with VPA+CLB; EEG spike-wave generalized, parietal spikes (right), slow Background; MRI hyppocampal assimetry (left smaller, effacement of the gray-white matter differentiation), mild periventricular WM HI, mild cerebral and cerebellar atrophy, ventricular dilatation, thin corpus callosum; folate deficiency; strabismus, nystagmus (10y); normal hearing; easy bruising, sensitive skin, erythromelalgia; normal shape face; long thick eyelashes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; joint laxity; slightly large hands, soft and brittle nails; no Marfanoid habitus; no heart/aorta defects; food intolerances, gastroesophageal reflux; no endocrine dysfunction; normal breathing; bruxism; difficulty falling asleep, less sleep than normal, needs amount of sleep to be controlled otherwise will wake up during night or early morning; peripheral vasomotor disturbances (erythromelalgia); diminished pain response; no intense eye communication; no genital malformations;"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310203"	"05611"	"00418915"	"00006"	"Isolated (sporadic)"	"36y"	"pregnancy hyperemesis; birth 41w, weight 3260g; weight 89.8 kg, height 166cm, OFC 57.5cm; delayed motor mevelopment, normal gait; delayed hand skills; severely delayed language development; no regression; no language regression; no motor regression; severe intellectual disability; anxiety; obsessed with football and jigsaw puzzles repetitive behaviours; no abnormal movements; normal muscle tone; epilepsy, generalized; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310204"	"05611"	"00418916"	"00006"	"Isolated (sporadic)"	"11y"	"pregnancy induced with ovarian stimulation, Caesarean section due to altered cardiotocography and hyperpyrexia during labor; birth 40w, length 51cm (p50-75), weight 3830g (p90-97), OFC 35cm (p75); weight 40kg (P50), height 152,5cm (P50), OFC 52cm (P50); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development (incomplete phoneme development, articulation impairment); no regression; no language regression; no motor regression; severe intellectual disability, IS <40; no autism; no anxiety; attention deficit hyperactivity disorder; withdrawn behavior; no abnormal movements; normal muscle tone; 6y-epilepsy, febrile seizures, good control with VPA; EEG focal (sleep); MRI normal; strabismus (alternating exotropia) astigmatism; normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"3y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310205"	"05611"	"00418917"	"00006"	"Isolated (sporadic)"	"18y"	"pregnancy abnormal triple screening, normal amniocentesis, neonatal cephalohematoma; birth 39w, length 58.4cm, weight 4053g; weight 95.4kg (P95), height 179.4cm (P64), OFC 59cm (P>98); delayed motor mevelopment, motor coordination poor, 14y-motor deterioration, consistent with catatonia at that time movements were generally slow; normal hand skills; conversational language, dysprosody; Behavioural deterioration. Catatonia (14y) (improved with electroconvulsive therapy) Increased apetite; language regression; motor regression; learning disorder, significantly scattered cognitive abilities, WISC-IV VCI 65 PRI 51 WMI 80 PSI 73fFull scale 58 (at age 10y); autism; no anxiety; attention deficit hyperactivity disorder; motor and phonic tics catatonia at age 14 (electroconvulsive therapy was applied, with improvement) increased appetite; apraxia in some movements tremor stereotypies tics; normal muscle tone; no epilepsy; EEG normal; MRI normal; no ophthalmological anomalies; normal hearing; facial acne; macrocephaly; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus (but slender body); no heart/aorta defects; Episodic vomiting (2-3 episodes)e; no endocrine dysfunction; hyperactive airway disease; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; umbilical hernia; no genital malformations; recurrent otitis media, resolved with PE placement"	"<1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310206"	"05611"	"00418918"	"00006"	"Isolated (sporadic)"	"28y"	"normal pregnancy; birth 40w, length 53cm, weight 4100g, OFC 35cm; weight 87kg (P93), height 176cm (P50), OFC 56cm (P45); 21m-delayed motor mevelopment; delayed hand skills, even adult use fork differently than normal; delayed language development, 8-9y first words, currently do not produce normal sentences; no regression; no language regression; no motor regression; moderate intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; aggressiveness; no abnormal movements; hypotonia; no epilepsy; normal hearing; dry skin, especially hair; long face; deep-set eyes; long, thin and pronounced nasal ridge; short philtrum; normal mouth; normal chin; small low-set ears; no skeletal manifestations; tapered fingers, left single palmar crease; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems (27y-apart frequent nocturnal awakenings during several months); no peripheral vasomotor disturbances; diminished pain response; intense eye communication; chronic fatigue; no genital malformations; no infection tendency"	"3m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310207"	"05611"	"00418919"	"00006"	"Isolated (sporadic)"	"1y6m"	"normal pregnancy; birth 39w; delayed motor mevelopment; 6m-3y-regression; motor regression (hand skills); DQ=60; 6m-epilepsy, infantile spasms; EEG hypsarrythmia; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal philtrum; normal chin; normal ears; no skeletal manifestations; no bruxism; sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication;"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310208"	"05611"	"00418920"	"00006"	"Familial, autosomal dominant"	"4y"	"normal pregnancy; normal motor mevelopment; delayed language development; regression; 2y-language regression; autism;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310209"	"05611"	"00418921"	"00006"	"Isolated (sporadic)"	"12y"	"normal pregnancy; birth 40w, length 53.3cm, weight 3800g; weight 34.4kg (P13), height 154cm (P66), OFC 55 (10y)(p75); delayed motor mevelopment; delayed hand skills; delayed language development, 2y-2-word phrases but slower progression after that time; no regression; mild intellectual disability, SON-IQ 55 (5y), K-ABC IQ 50 (6y), K-ABC IQ57 (7y); episodes of whole body shaking; normal muscle tone; epilepsy, focal; EEG focal (centro-parietal, left); MRI normal; no ophthalmological anomalies; normal hearing; hypertelorism; promiment ears; bicuspid aortic valve with good function; one café-au-lait macule;"	"15m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310210"	"05611"	"00418922"	"00006"	"Isolated (sporadic)"	"7y"	"normal pregnancy; birth 41w, length 53cm, weight 3330g, OFC 36cm; weight 19.2kg (P3), height 122cm (P25), OFC 51(p25); mildly delayed motor mevelopment, unstable gait; delayed language development, short sentences, nasal speech, slurred pronunciation; no regression; no language regression; no motor regression; moderate intellectual disability; no autism; no anxiety; attention deficit hyperactivity disorder; easily overstrained by too many external stimuli, played rather on his own in infancy; no abnormal movements; hypotonia; no epilepsy; EEG centro-central focal sharp waves/rolandic spikes (10y) normal; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; long face; midly deep-set eyes, mild epicanthus, long eyelashes; normal nose; relatively long philtrum; full lips; mild retrognathia; normal ears; joint laxity; fetal finger pads; no Marfanoid habitus; no heart/aorta defects; vomiting when too little sleep; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no intense eye communication; no genital malformations; infection tendency infancy"	"2y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310211"	"05611"	"00418923"	"00006"	"Isolated (sporadic)"	"12y"	"weight normal, height normal; normal language development; mild intellectual disability; autism; tantrums; no epilepsy; hypertelorism; broad nasal bridge upturned; short philtrum; full lips;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310212"	"05611"	"00418924"	"00006"	"Isolated (sporadic)"	"3y"	"Caesarean section because of breech; birth 38w3d, weight 3250g; weight normal, height P25, OFC p75; delayed motor mevelopment; delayed language development; VIQ=91, PIQ=70; easily overstimulated; normal muscle tone; no epilepsy; EEG focal (centro-parietal; right); MRI normal; cortical blindness; full cheeks; hypertelorism short palpebral fissures deep-set eyes downslanting palpebral fissures; short philtrum; full lips tented lip; short, broad hands, dysmorphic fingers, short toes with small nails;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310213"	"05611"	"00418925"	"00006"	"Isolated (sporadic)"	"11y"	"normal pregnancy; birth 40w2d, weight 3780g; weight 33.2kg (P>99), height 137.6cm, OFC 54cm; delayed motor mevelopment, 2y6m-walk on knees, currently can walk; delayed hand skills; delayed language development; no regression; moderate intellectual disability,IQ 45, functions at level 2-3y old child; autism; anxiety (panics when the place of things change or when food is different); no attention deficit hyperactivity disorder; OCD; no abnormal movements; hypotonia; 9y-epilepsy; MRI large perivascular space (left frontal); myopia; normal hearing; normal skin; normal shape face; long eyelashes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis joint laxity; 2cm difference in feet length; no Marfanoid habitus; functionally and structurally normal heart; hyperemesis (almost 1x per month), obstipation, not toilet-trained; menstruation since last week; normal breathing; sleep problems, wakes up during night and for her the day starts when she wakes up, with adjustment of Depakin is now better; diminished pain response; no intense eye communication; large tonsils; no genital malformations;"	"3y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310214"	"05611"	"00418926"	"00006"	"Unknown"	"7y"	"normal pregnancy; birth 40w, length 51cm, weight 3630g, OFC 35cm; weight 23kg, height 122cm, OFC 52cm; delayed motor mevelopment; delayed language development (only few words); no regression; moderate intellectual disability; autism; attention deficit hyperactivity disorder; no abnormal movements; normal muscle tone; no epilepsy; no skeletal manifestations; no Marfanoid habitus; no peripheral vasomotor disturbances; no genital malformations; no infection tendency"	"18m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310215"	"05611"	"00418927"	"00006"	"Isolated (sporadic)"	"11y"	"normal pregnancy; birth 38w3d, weight 3600g; weight 36kg (P5-10), height 155cm (P75), OFC 54.8cm (P70); early motor milestones normal, 12-15m-walk, 3y-motor decline; 1y/3y-ew single words, 3y-regression, currently nonverbal; 3y-regression; language regression; motor regression; severe intellectual disability; autism; no anxiety; no attention deficit hyperactivity disorder; no abnormal movements; normal muscle tone; no epilepsy; no ophthalmological anomalies; normal hearing; skin several hyperpigmentations back and legs; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; pectus anomaly joint laxity; long fingers and toes; Marfanoid habitus; no heart/aorta defects; constipation; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, difficulty falling asleep, treated with melatonin; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"3y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310216"	"05611"	"00418928"	"00006"	"Unknown"	""	";"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310218"	"05611"	"00418930"	"00006"	"Isolated (sporadic)"	"4y"	"delayed motor mevelopment; delayed hand skills; delayed language development; no regression; no language regression; no motor regression; autism; no anxiety; no attention deficit hyperactivity disorder; self injurious behavior; no abnormal movements; hypotonia; no epilepsy; MRI normal; strabismus; joint laxity; no Marfanoid habitus;"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310219"	"05611"	"00418931"	"00006"	"Isolated (sporadic)"	"7y"	"pregnancy maternal bladder infection requiring antibiotics, mild meconium aspiration, Caesarean section; birth 38w, length 55.8cm, weight 4.366g; weight 26.4kg (P50), height 124.5cm (P33), OFC 51.5cm (P50); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development, vocalizes currently uses augmentative devices; no regression; no language regression; no motor regression; moderate intellectual disability; autism; no anxiety; attention deficit hyperactivity disorder; behavioral outburst with frustration (can be physical); no abnormal movements; hypotonia; 6m-epilepsy, good control under AED+KGD; EEG focal (temporal-parietal, bilateral), multifocal spikes, sharp and slow waves, intermittent burst-suppression pattern; MRI mild frontotemporal cortico-subcortical atrophy with enlarged anterior peripheral liquor spaces, dysmorphic corpus callosum; no ophthalmological anomalies; normal hearing; normal skin; no skeletal manifestations; normal hands/feet; no heart/aorta defects (normal ultrasound); feeding difficulties when younger; no endocrine dysfunction; normal breathing; no bruxism; sleep problems, needs parents to fall and stay asleep; no peripheral vasomotor disturbances; no intense eye communication; mother history of anxiety; frequent URIs - negative Immune evaluation reported; some feeding difficulties and aspiration of thin liquids during infancy; no genital malformations; no infection tendency"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310220"	"05611"	"00418932"	"00006"	"Isolated (sporadic)"	"10y"	"normal pregnancy; birth 40w2d, weight 3500g; weight 34kg, height 147.7cm, OFC 53cm (P50); delayed motor mevelopment, normal gait; delayed hand skills; normal language development; no regression; no language regression; no motor regression; moderate intellectual disability, IQ 40; no autism; no anxiety; attention deficit hyperactivity disorder; social; no abnormal movements; normal muscle tone; no epilepsy; EEG normal; MRI normal; strabismus (exotropia); difficulties with depth perception; normal hearing; normal skin; normal shape face; fine eyebrows; normal nose; normal philtrum; normal mouth; normal chin; normal ears; kyphosis pes plano valgus joint laxity; fetal finger pads; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; diminished pain response; no intense eye communication; dyspraxia; 9y-transient immune trombocytepenia; no genital malformations; ear infections"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310221"	"05611"	"00418933"	"00006"	"Isolated (sporadic)"	"9y"	"normal pregnancy; birth 39w1d, length 51cm (p60), weight 3360g (p35); weight 31.5kg (P35), height 147cm (P93), OFC 55.2cm (P90); delayed motor mevelopment, delayed gait, 22m-walk, needs splints for short Achilles tendons; delayed hand skills; delayed language development, 3y-2-word sentences; no regression; mild intellectual disability, PIQ 54-74; TBQ 68; no autism; no anxiety; attention deficit hyperactivity disorder; tantrums; no abnormal movements; normal muscle tone; no epilepsy; MRI frontotemporal cortico-subcortical atrophy with enlarged anterior peripheral liquor spaces, thin corpus callosum (anterior predominance); no ophthalmological anomalies; normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; sandal gap; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; 9y-toe walking (persistent); no genital malformations; no infection tendency"	"2y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310222"	"05611"	"00418934"	"00006"	"Isolated (sporadic)"	"20y"	"pregnancy oligohydramnios; birth 39w, length 49cm (p40), weight 2650g (p8), OFC 33cm (p20); weight 88kg (>p99), height 171cm (P87), OFC 58cm (P96); delayed motor mevelopment, 2,5y-walk, motor decline last year, still walking; impaired hand skills, some regression in young adulthood; delayed language development, echolalia; 18y-regression; no language regression; motor regression; severe intellectual disability, IQ 20; autism; no anxiety; attention deficit hyperactivity disorder; psychotic episodes (12y and 13y) repetitive behaviours; stereotypies; hypotonia; epilepsy; amblyopia; normal hearing; normal skin; round mild brachycephalic; deep-set eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no intense eye communication; no genital malformations; no infection tendency"	"<1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310223"	"05611"	"00418935"	"00006"	"Isolated (sporadic)"	"23y"	"normal pregnancy; birth 41w, length normalcm, weight normal, OFC normal; weight 58kg, height 158cm, OFC 55.3cm; delayed motor mevelopment, normal gait; delayed hand skills; delayed language developmen, 6y-first words; no regression; moderate intellectual disability, WISC III (at 8y) QIV 61, QIP 51, QIT 51; no autism; anxiety; no attention deficit hyperactivity disorder; withdrawn behavior; no abnormal movements; normal muscle tone; no epilepsy; EEG normal; MRI vermis atrophy; no ophthalmological anomalies; normal hearing; recurrent severe acne; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; bilateral cubitus valgus; short finger; no Marfanoid habitus; episodic vomiting; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; urinary infections (1st year)"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310224"	"05611"	"00418936"	"00006"	"Isolated (sporadic)"	"34y"	"normal pregnancy; birth 40w, length 50cm, weight 3320g; weight <p3, height <p3, OFC <p3; delayed motor mevelopment, no ambulation; regression hand skills, 10m-loss of hand proposal movements; delayed language development, currently nonverbal; 6m-3y-regression; no language regression; motor regression (hand skills); severe intellectual disability; no autism; anxiety; no attention deficit hyperactivity disorder; inappropriate laughing/screaming spells; stereotypies (hand to mouth and clapping) dystonia; dystonia; 1y-epilepsy, absences, GTCS; EEG abnormal (sleep); no ophthalmological anomalies; normal hearing; normal skin; long face; normal eyes; large nose; normal philtrum; normal mouth; normal chin; normal ears; scoliosis; small; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; hyperventilation, breath holds; no bruxism; Yes; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310225"	"05611"	"00418937"	"00006"	"Isolated (sporadic)"	"5y"	"normal pregnancy; birth 40w, length 52cm, weight 3370g, OFC 35cm; weight 17.5kg (P10-25), height 116.5cm (P75-90), OFC 50cm (P10-25); delayed motor mevelopment; delayed hand skills; delayed language development, 4y-2 word sentences; no regression; mild intellectual disability (IQ too young); no autism; no anxiety; attention deficit hyperactivity disorder; easily frustrated, frequent use of dirty words repetitive behaviours; stereotypies (hand in underpants) ataxia; hypotonia; 13m-epilepsy, febrile seizures (one episode); EEG normal; strabismus (exotropia); normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; large ears; no skeletal manifestations; pes planovalgus; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; BMI 12.9 (<3 %; no genital malformations; no infection tendency"	"<1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310226"	"05611"	"00418938"	"00006"	"Isolated (sporadic)"	"16y"	"normal pregnancy; birth 40w, length 53cm, weight 3840g; weight 72.2kg (P75-90), height 163.3cm (P10), OFC 57.5cm (P75-90); delayed motor mevelopment, 8-9m-sit, 12m-crawl, 17m-walk, walks slowly with arms flexed; delayed language development, 2y-regression, currently nonverbal; 2y-regression; language regression; no motor regression; severe intellectual disability; autism; attention deficit hyperactivity disorder; impulsive; no abnormal movements; hypotonia; 5y-epilepsy, absences, GTCS, drop attacks Refractory to AED and VNS; MRI biparietal periatrial deep white matter T2 hyperintense; OXPHOS mild CI and CIII activity decrease, borderline low CSF 5-MTHF; no ophthalmological anomalies; normal hearing; normal skin; broad facial; medial eyebrow flare; upturned tip; normal philtrum; full lower lip overbite; receded chin; normal ears; no skeletal manifestations; broad hands, mild bilateral 5th finger, clinodactyly, pes planus (marked planovalgus one foot); no Marfanoid habitus; no gastrointestinal manifestations; normal breathing; no bruxism; difficulty falling asleep and staying asleep; no peripheral vasomotor disturbances; no intense eye communication; no genital malformations; no infection tendency"	"<1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310227"	"05611"	"00418939"	"00006"	"Isolated (sporadic)"	"18y"	"normal pregnancy; birth at term; weight 48.9kg (P<3), height 170.4cm (P25), OFC 55cm (P10-25); mildly delayed motor mevelopment, mild, 18m-walk; delayed language development, 22m-regression, ccurrently verbal but has diagnosis of selective mutism; 22m-regression; language regression; no motor regression; moderate intellectual disability; autism; anxiety; no attention deficit hyperactivity disorder; behavioral outbursts; no abnormal movements; hypotonia; 7y-epilepsy, focal (centro-temporal); MRI normal; no ophthalmological anomalies; normal hearing; normal skin; long face; epicanthal folds partial unilateral iris heterochromia; prominent tip and columella; short philtrum; normal mouth; receded chin; normal ears; scoliosis; unilateral 5th finger, clinodactyly, unilateral 2-3 toe syndactyly; no Marfanoid habitus (but slender body); no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no intense eye communication; no genital malformations; no infection tendency"	"<1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310228"	"05611"	"00418940"	"00006"	"Isolated (sporadic)"	"11y"	"normal language development; mild intellectual disability; anxiety; MRI normal; cortical blindness;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310229"	"05611"	"00418941"	"00006"	"Isolated (sporadic)"	"8y"	"normal pregnancy; birth 40w, length 53cm, weight 3640g, OFC 35cm; weight 22.4kg (P30), height 117.5cm (P10), OFC 52cm (P60); delayed motor mevelopment, frequent stumbling; delayed hand skills; delayed language development; no regression; moderate intellectual disability, IQ 53 (WPPSI-III); no autism; anxiety; tantrum; stereotypies (left hand); normal muscle tone; 10y-epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; broad nasal tip; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; patent ductus arteriosus, small atrial septal defect; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"<1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310230"	"05611"	"00418942"	"00006"	"Unknown"	"47y"	"weight 84.4kg (P>99), height 164cm (P15), OFC 55cm; ; moderate intellectual disability; autism; depression and agressive outbursts; bipolar disorder; EEG abnormal; MRI normal; high forehead; short palpebral fissures; long columella; thin upper lip;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310231"	"05611"	"00418943"	"00006"	"Isolated (sporadic)"	"3y6m"	"normal pregnancy; birth 39w, weight 3140g, OFC 34cm; weight 14.8kg (P25-50), height 99.5cm (P50-75), OFC 53cm (P98); delayed motor mevelopment,26m-walked, waddling gait, very unsteady for several months; delayed hand skills; delayed language development, few single words, currently nonverbal; Yes; language regression; no motor regression; autism; hyperactive sensitive to high-pitched noises loves playing with water head banging to fall asleep; no abnormal movements; hypotonia; no epilepsy; MRI incomplete inversion left hippocampus, asymmetric dilatation lateral ventricles, white matter volume loss, thin corpus callosum; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; high arched palate; normal chin; normal ears; joint laxity; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; allergy to legumes; no genital malformations;"	"8m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310232"	"05611"	"00418944"	"00006"	"Isolated (sporadic)"	"23y"	"normal pregnancy; birth at term, weight 4649g; weight 79kg (P90-95), height 175.6cm (P97), OFC 59cm (P>98); delayed motor mevelopment, 30m-walk, uncoordinated with wide based gait; delayed hand skills, can write name but not well; delayed language developmen, 3y-started talking, now short phrases, dysarthric speech, functioning at preschool level; no regression; no language regression; no motor regression; mild-moderate intellectual disability; no autism; anxiety; no attention deficit hyperactivity disorder; social; ataxia; hypotonia; 7y-epilepsy, focal, refractory; EEG-18y-vertex/right central sharp wave discharges, partial seizures with vertex/central onset (20y), diffuse background slowing and excessive beta activity for age; MRI bilateral polymicrogyria (parieto-occipital), cerebellar>cerebral atrophy;; no ophthalmological anomalies; normal hearing; normal skin; broad forehead; slightly wide spaced eyes; small upturned nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"2y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310233"	"05611"	"00418945"	"00006"	"Isolated (sporadic)"	"13y"	"pregnancy sdvanced maternal age (36y), preterm contractions; birth 39w, length 48,26cm, weight 3487g, OFC small; weight 47.4kg (P50), height 162.5cm (P71), OFC 53.5cm (P44); significantly delayed motor development, level of functioning 3-6 year old level, uncordinated gait; delayed hand skills; everely impaired language development (VIQ = 47), currently at a 5y level; 12m-regression; language regression; motor regression; severe intellectual disability, IQ severely impaired range (FSIQ=42); no autism; no anxiety; attention deficit hyperactivity disorder; tics; hypotonia; 4m-epilepsy (ACTH treatment), focal; EEG-4m-hypsarrhythmia (13y), parasagittal multifocal spike discharges, especially activated with sleep; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; pointed chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; Celiac disease. Cyclic Vomiting. Gastrostomy; no endocrine dysfunction; normal breathing; no bruxism; sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; motor tics; no genital malformations; no infection tendency"	"6m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310235"	"05611"	"00418947"	"00006"	"Unknown"	"13y"	"normal pregnancy; birth 41w, length 51,5cm, weight 3480g, OFC 35cm; weight 50,4kg (P49), height 148cm (P7), OFC 53,5cm (P14); delayed motor mevelopment, normal gait; no hand skills; delayed language development; no regression; severe intellectual disability; autism; anxiety; attention deficit hyperactivity disorder; agressive and self-injurious behavior, trichotillomania, pica, bruxism repetitive behaviours; stereotypies; normal muscle tone; <2y-epilepsy; EEG focal (frontal slow waves); MRI normal; strabismus hyperopia; normal hearing; normal skin; flat midface; globular eyes; long columella bulbous nose; everted lower lip; flat chin; no skeletal manifestations; long and thin fingers; no heart/aorta defects; Constipation since birth; no endocrine dysfunction; normal breathing; bruxism; sleep disturbances; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; 2 cafe-au-lait spots; no genital malformations;"	"9m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310236"	"05611"	"00418948"	"00006"	"Isolated (sporadic)"	"13y"	"normal pregnancy; birth 38w, weight 3500g; weight 28.9kg (P1), height 138cm (p1), OFC 7y-55cm (p>99); delayed motor mevelopment; delayed hand skills; progressive delayed language development; regression; motor regression (motor clumsiness, imbalance episodes); mild intellectual disability; attention deficit hyperactivity disorder; mild behaviour problems; ataxia, dysmetria spastic-dystonic tetraparesis; spastic-dystonic tetraparesis; epilepsy, focal; EEG multifocal (frontocentral-temporal bilateral) Slow background; MRI incomplete inversion left hippocamus, dysmorphic temporal horn (ipsilateral), MRI normal spectroscopy; mildly increase of beta cholestanol; CSF mild increase in HVA-5HIIA; slow upgaze vertical saccades and visuospatial difficulties; normal hearing; mild scoliosis; no heart/aorta defects; no sleep problems; dysarthria; dysphagia; ocasional enuresis and encopresis;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310237"	"05611"	"00418949"	"00006"	"Isolated (sporadic)"	"19y"	"pregnancy decreased active fetal movement; birth 41w5d, length 57cm, weight 3799g; weight 54.7kg, height 167.1cm, OFC 55.6cm; delayed motor mevelopment, unstable gait; delayed hand skills; delayed language development, short sentencess severe echolalia; 7y-regression; language regression; motor regression (clumsiness, frequent falls, hand skills); moderate intellectual disability; autism; anxiety; period of hearing voices; stereotypies (hands, sucking, chewing lower lip) tremors; hypotonia; 8y-epilepsy, focal, refractory; EEG abnormal; MRI normal; loss of peripheral fields tracking difficulties; normal hearing; normal skin; prominent jaw; deep-set eyes; underdeveloped alae nasi; short philtrum; thin upper lip small uvula; prognathism; normal ears; mild scoliosis joint laxity; long and thin fingers pes planus; Marfanoid habitus; no heart/aorta defects; episodic vomiting; PCOS: acne, hirsute, hypothyroid, low Na+, increased testosterone; hyperventelation and sleep apena; difficulty getting and staying asleep; peripheral vasomotor disturbances, \"ice cold hands and feet; diminished pain response; no intense eye communication; no genital malformations;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310238"	"05611"	"00418950"	"00006"	"Isolated (sporadic)"	"2y"	"normal pregnancy; birth length 53cm, weight 3680g, OFC 36cm; weight 17kg (P90-97), height 92cm (P50), OFC 44cm (P1); severely delayed motor mevelopment, Bayley Scales II: 51, mouth frequently open, poor hand-eye coordination, ataxic gait, frequent falls; normal hand skills; delayed language development (receptive and expressive), echolalia; no regression; too young to estimate intellectual disability; anxiety (panic attacks at night); ataxia; hypotonia; no epilepsy; EEG normal; no ophthalmological anomalies; normal hearing; normal skin; high forehead; normal eyes; normal nose; normal philtrum; large mouth and tonge; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; fragmented sleep, difficulty falling asleep, frequent wake up; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"2y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310240"	"05611"	"00418952"	"00006"	"Isolated (sporadic)"	"6y"	"IVF, dizygotic twins, unaffected twin sister; pregnancy decreased active fetal movement; birth 35w, length 46cm, weight 2450g, OFC 33cm; weight p<1, height p55, OFC p8; delayed motor mevelopment, 2y6m-walk, tendency to stumble, impaired balance, somewhat apractic gait in between normal gait; delayed hand skills, can use a spoon, but prefers just eating with hands; delayed language development, currently few words; no regression; severe intellectual disability; no autism; anxiety (panics when exposed to loud sounds); no attention deficit hyperactivity disorder; inapropriately contact seeking and trustful, happy, smiling, laughing. hyperactive. repetitive behaviours; stereotypies (hand flapping during childhood) ataxia; hypotonia; no epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; broad forhead; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; no Marfanoid habitus (but slender body); no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no sleep problems; no peripheral vasomotor disturbances; intense eye communication; teeth enamel defect on several teet, normal shape on teeth, but disorderly placed; skin/eyes very faired; no genital malformations; no infection tendency"	"<1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310241"	"05611"	"00418953"	"00006"	"Isolated (sporadic)"	"18y"	"normal pregnancy; birth 39w2d, length 52cm, weight 3770g; weight 52kg, height 180cm, OFC 9y-53cm )(p47); delayed motor mevelopment, uncoordinated gait; imparied hand skills, finger flapping in childhood, dystonic; delayed language development, currently nonverbal; no regression; severe intellectual disability, IQ 30; no autism; no anxiety; attention deficit hyperactivity disorder; very happy, distanceless, attention seeking; stereotypies (finger flapping) ataxia (truncal) dystonia; hypotonia (oral, drooling) dystonia; 5y-epilepsy, myoclonic-astatic, atypical absences, refractory; EEG multifocal, slow background; MRI mild delayed myelination, MRS reduced cholin concentration; no ophthalmological anomalies; normal hearing; dry skin; long face; normal eyes; long columella; short philtrum; full lips diastema; normal chin; large ears; joint laxity; fetal finger pads; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; cold extremities, palms easyly red; diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"9m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310242"	"05611"	"00418954"	"00006"	"Isolated (sporadic)"	"11y"	"birth 39w, weight 3450g; weight height 140cm (P18); moderate intellectual disability; anxiety; EEG normal; MRI 16m-delayed myelination (7y-normal); cortical blindness;"	""	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310243"	"05611"	"00418955"	"00006"	"Isolated (sporadic)"	"20y"	"delayed motor mevelopment; delayed hand skills; delayed language development; no regression; no language regression; no motor regression; moderate intellectual disability; no autism; no anxiety; no attention deficit hyperactivity disorder; happy, affable, obsessive behaviour; no abnormal movements; normal muscle tone; 6.5y-epilepsy, focal; EEG abnormal; MRI normal; hyperopia; skeletal manifestations; Marfanoid habitus;"	"3y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310244"	"05611"	"00418956"	"00006"	"Isolated (sporadic)"	"8y6m"	"pregnancy decreased active fetal movement, umbilical cord knot x3; birth 39w, length 49.5cm, weight 3203; weight 23.6kg (P15), height 128cm (P27), OFC 52cm (P24); delayed motor mevelopment, normal gait; delayed hand skills; delayed language development; 8y-regression; mild intellectual disability, 9y-WISC-V FSIQ=68, 10y-on ADHD medications FSI =84 with visual spatial 67 and processing 69; no autism; anxiety; attention deficit hyperactivity disorder; onset of phobias dyspraxia, non-verbal learning disability, social communication disorder; no abnormal movements; hypotonia (oral, drooling); no epilepsy; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; wide nasal ridge, bulbous nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; abdominal migraines with emesis (now in remission ) with cyproheptadine; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations; no infection tendency"	"1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310245"	"05611"	"00418957"	"00006"	"Isolated (sporadic)"	"8y6m"	"normal pregnancy; birth at term, length 50.8cm, weight 3400; weight 22.3kg (P3-10), height 122.5 cm (P3-10), OFC 52cm (P50-75); delayed motor mevelopment, normal gait; delayed hand skills; normal language development; no regression; intellectual disability; autism; no anxiety; attention deficit hyperactivity disorder; no abnormal movements; normal muscle tone; 7y-epilepsy, focal (facial/leg twitching), ESES, good control with AED; EEG multifocal and generalized ESES; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; syndactyly of the 2nd, 3th and 4th toes bilaterally; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; no sleep problems; no peripheral vasomotor disturbances; no diminished pain response; no intense eye communication; no genital malformations;"	"1y"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000310246"	"05611"	"00418958"	"00006"	"Isolated (sporadic)"	"6y"	"pregnancy nuchal cord x 3; birth 39w1d, length 54.5cm, weight 3410, OFC 36cm; weight 20kg (P49), height 113cm (P25), OFC 53.5cm (P88); delayed motor mevelopment, unstable, uncoordinated gait; delayed hand skills, 2y-regression; delayed language development, currently nonverbal; 2-5y-regression; language regression; fine motor regression; severe intellectual disability; autism; no anxiety; no attention deficit hyperactivity disorder; excessive jumping, clapping when excited; stereotypies (hands) ataxia; hypotonia; 2y-epilepsy, GTCS during sleep, absences. ESES Refractory to AED, ivIG and VNS; EEG multifocal spikes-waves ESES; MRI normal; no ophthalmological anomalies; normal hearing; normal skin; normal shape face; normal eyes; normal nose; normal philtrum; normal mouth; normal chin; normal ears; no skeletal manifestations; normal hands/feet; no Marfanoid habitus; no heart/aorta defects; no gastrointestinal manifestations; no endocrine dysfunction; normal breathing; no bruxism; Advanced sleep phase syndrome (circadian sleep disorder). He typically wakes very early for the day (often 3 - 4 a.m.). Periodic limb movement disorder on PSG (PLMS index of 26.3/hr); no peripheral vasomotor disturbances; intense eye communication; no intense eye communication; 3y-Henoch–Schönlein purpura; no genital malformations; no infection tendency"	"18m"	""	""	""	""	""	""	""	"MRD62"	"neurodevelopmental delay"	""
"0000318793"	"06389"	"00427820"	"01164"	"Isolated (sporadic)"	"08y"	"Global developmental delay,  Flat midface, Deep set ears rotated backwards, Prominent incisors"	""	""	""	""	""	""	""	""	""	""	""
"0000326789"	"06389"	"00436674"	"01164"	"Unknown"	"13y"	"Neurodevelopmental abnormality, Intellectual disability"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 59
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000039630"	"00039389"	"1"	"01158"	"01158"	"2015-06-15 13:07:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000050345"	"00050400"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000145242"	"00144382"	"1"	"01402"	"01402"	"2017-12-09 15:23:38"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000145255"	"00144395"	"1"	"01402"	"01402"	"2017-12-10 21:30:44"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000145256"	"00144396"	"1"	"01402"	"01402"	"2017-12-10 21:41:21"	""	""	"SEQ-NG-I"	"DNA"	"blood"	"WES"
"0000246998"	"00245886"	"1"	"01807"	"01807"	"2019-07-11 09:47:48"	""	""	"SEQ"	"DNA"	""	""
"0000393277"	"00392035"	"1"	"02494"	"02494"	"2021-11-19 16:32:31"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000413573"	"00412301"	"1"	"01164"	"01164"	"2022-06-27 12:55:17"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000420205"	"00418907"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420206"	"00418908"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420207"	"00418909"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420208"	"00418910"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420209"	"00418911"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420210"	"00418912"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420211"	"00418913"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420212"	"00418914"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420213"	"00418915"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420214"	"00418916"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420215"	"00418917"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420216"	"00418918"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420217"	"00418919"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420218"	"00418920"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420219"	"00418921"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420220"	"00418922"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420221"	"00418923"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420222"	"00418924"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420223"	"00418925"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420224"	"00418926"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420225"	"00418927"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	"00006"	"2022-12-16 12:59:59"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000420226"	"00418928"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420228"	"00418930"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420229"	"00418931"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420230"	"00418932"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420231"	"00418933"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420232"	"00418934"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420233"	"00418935"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420234"	"00418936"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420235"	"00418937"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420236"	"00418938"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420237"	"00418939"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420238"	"00418940"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420239"	"00418941"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420240"	"00418942"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420241"	"00418943"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420242"	"00418944"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420243"	"00418945"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420245"	"00418947"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420246"	"00418948"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420247"	"00418949"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420248"	"00418950"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420250"	"00418952"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420251"	"00418953"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420252"	"00418954"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420253"	"00418955"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420254"	"00418956"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420255"	"00418957"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420256"	"00418958"	"1"	"00006"	"00006"	"2022-10-13 19:59:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000429143"	"00427820"	"1"	"01164"	"01164"	"2022-12-13 14:32:12"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000438158"	"00436674"	"1"	"01164"	"01164"	"2023-09-28 16:29:51"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000413573"	"DLG4"
"0000429143"	"DLG4"
"0000438158"	"DLG4"


## 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 = 172
"{{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}}"
"0000067230"	"0"	"90"	"17"	"7107520"	"7107520"	"dup"	"0"	"01158"	"DLG4_000001"	"g.7107520dup"	""	"{PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}, {PMID:Lelieveld 2016:27479843}"	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.7204201dup"	""	"pathogenic (dominant)"	""
"0000079325"	"0"	"90"	"17"	"6995688"	"7232433"	"del"	"0"	"00006"	"ACADVL_000011"	"g.6995688_7232433del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	"g.7092369_7329114del"	""	"pathogenic"	""
"0000236322"	"0"	"70"	"17"	"7096418"	"7096418"	"del"	"0"	"01402"	"DLG4_000002"	"g.7096418del"	""	""	""	"1843delG"	"RNA reduced expression by RT-qPCR in blood"	"Germline"	"yes"	""	"0"	""	""	"g.7193099del"	""	"likely pathogenic"	""
"0000236336"	"0"	"90"	"17"	"7100134"	"7100141"	"del"	"0"	"01402"	"DLG4_000003"	"g.7100134_7100141del"	""	"{PMID:Moutton 2018:29460436}"	""	"1147_1154delTTTATCCT"	"reduced expression"	"De novo"	""	""	"0"	""	""	"g.7196815_7196822del"	""	"pathogenic (dominant)"	""
"0000236337"	"0"	"90"	"17"	"7097161"	"7097161"	"subst"	"0"	"01402"	"DLG4_000004"	"g.7097161A>G"	""	"{PMID:Moutton 2018:29460436}"	""	"r.1672_1673insCATC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7193842A>G"	""	"pathogenic (dominant)"	""
"0000258875"	"0"	"10"	"17"	"7127718"	"7127718"	"subst"	"0.599518"	"02325"	"ACADVL_000006"	"g.7127718T>C"	""	""	""	"ACADVL(NM_001270448.2):c.1377+6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7224399T>C"	""	"benign"	""
"0000260480"	"0"	"30"	"17"	"7127402"	"7127402"	"subst"	"0.00131576"	"02326"	"ACADVL_000017"	"g.7127402T>A"	""	""	""	"ACADVL(NM_001270448.1):c.1206+14T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7224083T>A"	""	"likely benign"	""
"0000260481"	"0"	"30"	"17"	"7127462"	"7127462"	"subst"	"0"	"02326"	"ACADVL_000018"	"g.7127462T>C"	""	""	""	"ACADVL(NM_001270448.1):c.1207-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7224143T>C"	""	"likely benign"	""
"0000260482"	"0"	"30"	"17"	"7128292"	"7128292"	"subst"	"0.00281655"	"02326"	"ACADVL_000020"	"g.7128292G>A"	""	""	""	"ACADVL(NM_000018.3):c.1844G>A (p.(Arg615Gln)), ACADVL(NM_001270448.1):c.1616G>A (p.R539Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7224973G>A"	""	"likely benign"	""
"0000260483"	"0"	"30"	"17"	"7124768"	"7124768"	"subst"	"0"	"02326"	"ACADVL_000015"	"g.7124768T>C"	""	""	""	"ACADVL(NM_001270448.1):c.250-89T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7221449T>C"	""	"likely benign"	""
"0000261761"	"0"	"30"	"17"	"7120487"	"7120487"	"subst"	"0"	"01943"	"ACADVL_000069"	"g.7120487C>T"	""	""	""	"ACADVL(NM_001270447.1):c.23C>T (p.A8V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7217168C>T"	""	"likely benign"	""
"0000261762"	"0"	"10"	"17"	"7125341"	"7125341"	"subst"	"0.00188419"	"01943"	"ACADVL_000016"	"g.7125341T>A"	""	""	""	"ACADVL(NM_001270448.1):c.465T>A (p.S155=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7222022T>A"	""	"benign"	""
"0000325141"	"0"	"50"	"17"	"7107348"	"7107348"	"subst"	"0"	"01804"	"DLG4_000006"	"g.7107348G>T"	""	""	""	"DLG4(NM_001128827.1):c.180C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7204029G>T"	""	"VUS"	""
"0000325142"	"0"	"50"	"17"	"7107349"	"7107349"	"subst"	"0"	"01804"	"DLG4_000007"	"g.7107349T>A"	""	""	""	"DLG4(NM_001128827.1):c.179A>T (p.(Tyr60Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7204030T>A"	""	"VUS"	""
"0000325145"	"0"	"50"	"17"	"7127568"	"7127568"	"subst"	"0"	"01804"	"ACADVL_000019"	"g.7127568C>T"	""	""	""	"ACADVL(NM_000018.3):c.1532+6C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7224249C>T"	""	"VUS"	""
"0000338973"	"0"	"90"	"17"	"7125494"	"7125494"	"subst"	"4.06062E-6"	"02327"	"ACADVL_000022"	"g.7125494A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7222175A>C"	""	"pathogenic"	""
"0000342708"	"0"	"70"	"17"	"7100234"	"7100234"	"subst"	"0"	"02327"	"DLG4_000013"	"g.7100234G>A"	""	""	""	"DLG4(NM_001365.3):c.1054C>T (p.(Arg352Ter)), DLG4(NM_001365.4):c.1054C>T (p.R352*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7196915G>A"	""	"likely pathogenic"	""
"0000342851"	"0"	"50"	"17"	"7099876"	"7099876"	"subst"	"0"	"02327"	"DLG4_000012"	"g.7099876G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7196557G>A"	""	"VUS"	""
"0000343106"	"0"	"30"	"17"	"7123473"	"7123473"	"subst"	"7.21959E-6"	"02327"	"ACADVL_000021"	"g.7123473G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7220154G>A"	""	"likely benign"	""
"0000343222"	"0"	"70"	"17"	"7096281"	"7096281"	"subst"	"0"	"02327"	"DLG4_000011"	"g.7096281G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7192962G>A"	""	"likely pathogenic"	""
"0000344566"	"0"	"70"	"17"	"7107027"	"7107027"	"subst"	"0"	"02327"	"DLG4_000014"	"g.7107027G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7203708G>A"	""	"likely pathogenic"	""
"0000499838"	"0"	"70"	"17"	"7096801"	"7096801"	"subst"	"0"	"01807"	"DLG4_000016"	"g.7096801C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.7193482C>T"	""	"VUS"	""
"0000562912"	"0"	"50"	"17"	"7096822"	"7096822"	"subst"	"0"	"02327"	"DLG4_000018"	"g.7096822T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7193503T>C"	""	"VUS"	""
"0000562913"	"0"	"70"	"17"	"7097309"	"7097309"	"subst"	"0"	"02327"	"DLG4_000019"	"g.7097309G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7193990G>A"	""	"likely pathogenic"	""
"0000562914"	"0"	"70"	"17"	"7097312"	"7097312"	"subst"	"0"	"02327"	"DLG4_000020"	"g.7097312G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7193993G>A"	""	"likely pathogenic"	""
"0000562915"	"0"	"50"	"17"	"7097731"	"7097731"	"subst"	"0"	"02325"	"DLG4_000021"	"g.7097731A>T"	""	""	""	"DLG4(NM_001365.4):c.1514T>A (p.V505D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7194412A>T"	""	"VUS"	""
"0000562916"	"0"	"90"	"17"	"7099645"	"7099645"	"subst"	"0"	"02325"	"DLG4_000022"	"g.7099645G>A"	""	""	""	"DLG4(NM_001365.4):c.1324C>T (p.R442*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7196326G>A"	""	"pathogenic"	""
"0000562917"	"0"	"50"	"17"	"7100234"	"7100234"	"subst"	"0"	"01804"	"DLG4_000013"	"g.7100234G>A"	""	""	""	"DLG4(NM_001365.3):c.1054C>T (p.(Arg352Ter)), DLG4(NM_001365.4):c.1054C>T (p.R352*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7196915G>A"	""	"VUS"	""
"0000562918"	"0"	"50"	"17"	"7107367"	"7107367"	"subst"	"0.000662746"	"02325"	"DLG4_000008"	"g.7107367G>A"	""	""	""	"DLG4(NM_001365.4):c.299C>T (p.T100I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7204048G>A"	""	"VUS"	""
"0000562933"	"0"	"50"	"17"	"7123443"	"7123443"	"subst"	"0.000119036"	"01804"	"DLG4_000023"	"g.7123443C>T"	""	""	""	"ACADVL(NM_000018.3):c.65C>T (p.S22L, p.(Ser22Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7220124C>T"	""	"VUS"	""
"0000562934"	"0"	"90"	"17"	"7123482"	"7123482"	"del"	"0"	"01804"	"DLG4_000024"	"g.7123482del"	""	""	""	"ACADVL(NM_000018.3):c.104delC (p.P35Lfs*26), ACADVL(NM_000018.4):c.104del (p.(Pro35Leufs*26))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7220163del"	""	"pathogenic"	""
"0000562935"	"0"	"50"	"17"	"7123781"	"7123781"	"subst"	"0"	"01943"	"DLG4_000025"	"g.7123781A>T"	""	""	""	"ACADVL(NM_001270448.1):c.-90-2A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7220462A>T"	""	"VUS"	""
"0000562937"	"0"	"10"	"17"	"7123838"	"7123838"	"subst"	"0.00799961"	"02326"	"DLG4_000026"	"g.7123838C>T"	""	""	""	"ACADVL(NM_000018.4):c.194C>T (p.P65L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7220519C>T"	""	"benign"	""
"0000562938"	"0"	"30"	"17"	"7124751"	"7124751"	"subst"	"0"	"02326"	"DLG4_000027"	"g.7124751T>C"	""	""	""	"ACADVL(NM_001270448.1):c.250-106T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7221432T>C"	""	"likely benign"	""
"0000562939"	"0"	"30"	"17"	"7124859"	"7124859"	"subst"	"4.06101E-5"	"01943"	"DLG4_000028"	"g.7124859C>T"	""	""	""	"ACADVL(NM_001270448.1):c.252C>T (p.Y84=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7221540C>T"	""	"likely benign"	""
"0000562940"	"0"	"30"	"17"	"7124874"	"7124874"	"subst"	"6.9035E-5"	"01943"	"DLG4_000029"	"g.7124874G>A"	""	""	""	"ACADVL(NM_001270448.1):c.267G>A (p.E89=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7221555G>A"	""	"likely benign"	""
"0000562941"	"0"	"50"	"17"	"7125591"	"7125591"	"subst"	"0.00127919"	"01943"	"ACADVL_000010"	"g.7125591T>C"	""	""	""	"ACADVL(NM_001270448.1):c.620T>C (p.V207A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7222272T>C"	""	"VUS"	""
"0000562942"	"0"	"90"	"17"	"7125591"	"7125591"	"subst"	"0.00127919"	"02327"	"ACADVL_000010"	"g.7125591T>C"	""	""	""	"ACADVL(NM_001270448.1):c.620T>C (p.V207A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7222272T>C"	""	"pathogenic"	""
"0000562945"	"0"	"90"	"17"	"7127184"	"7127184"	"subst"	"2.43748E-5"	"02327"	"ACADVL_000004"	"g.7127184G>A"	""	""	""	"ACADVL(NM_000018.4):c.1322G>A (p.(Gly441Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7223865G>A"	""	"pathogenic"	""
"0000562946"	"0"	"70"	"17"	"7127320"	"7127320"	"subst"	"0"	"02327"	"DLG4_000032"	"g.7127320C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7224001C>G"	""	"likely pathogenic"	""
"0000562947"	"0"	"10"	"17"	"7127718"	"7127718"	"subst"	"0.599518"	"02327"	"ACADVL_000006"	"g.7127718T>C"	""	""	""	"ACADVL(NM_001270448.2):c.1377+6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7224399T>C"	""	"benign"	""
"0000562948"	"0"	"70"	"17"	"7127982"	"7127982"	"subst"	"0.000104078"	"02327"	"DLG4_000033"	"g.7127982G>A"	""	""	""	"ACADVL(NM_001270448.1):c.1472G>A (p.R491Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7224663G>A"	""	"likely pathogenic"	""
"0000562949"	"0"	"30"	"17"	"7128287"	"7128287"	"subst"	"0.00053249"	"01943"	"DLG4_000034"	"g.7128287G>A"	""	""	""	"ACADVL(NM_001270448.1):c.1611G>A (p.R537=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7224968G>A"	""	"likely benign"	""
"0000562950"	"0"	"30"	"17"	"7128292"	"7128292"	"subst"	"0.00281655"	"01943"	"ACADVL_000020"	"g.7128292G>A"	""	""	""	"ACADVL(NM_000018.3):c.1844G>A (p.(Arg615Gln)), ACADVL(NM_001270448.1):c.1616G>A (p.R539Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7224973G>A"	""	"likely benign"	""
"0000562951"	"0"	"30"	"17"	"7129515"	"7129515"	"subst"	"5.78675E-5"	"01804"	"DLG4_000035"	"g.7129515C>T"	""	""	""	"DVL2(NM_004422.2):c.1880G>A (p.(Arg627Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7226196C>T"	""	"likely benign"	""
"0000562952"	"0"	"30"	"17"	"7132292"	"7132292"	"subst"	"0"	"01804"	"DLG4_000036"	"g.7132292G>C"	""	""	""	"DVL2(NM_004422.2):c.1030C>G (p.(Pro344Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7228973G>C"	""	"likely benign"	""
"0000562953"	"0"	"30"	"17"	"7132774"	"7132774"	"subst"	"0.000154795"	"01804"	"DLG4_000037"	"g.7132774G>A"	""	""	""	"DVL2(NM_004422.2):c.748-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7229455G>A"	""	"likely benign"	""
"0000616788"	"0"	"10"	"17"	"7121105"	"7121105"	"subst"	"0.0237277"	"02327"	"DLG4_000039"	"g.7121105C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7217786C>A"	""	"benign"	""
"0000616789"	"0"	"30"	"17"	"7123492"	"7123492"	"subst"	"5.47285E-5"	"02327"	"DLG4_000040"	"g.7123492G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7220173G>C"	""	"likely benign"	""
"0000616790"	"0"	"30"	"17"	"7123842"	"7123842"	"subst"	"0"	"02327"	"DLG4_000041"	"g.7123842C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7220523C>G"	""	"likely benign"	""
"0000616791"	"0"	"30"	"17"	"7127673"	"7127673"	"subst"	"3.25826E-5"	"02327"	"DLG4_000045"	"g.7127673C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7224354C>T"	""	"likely benign"	""
"0000616792"	"0"	"50"	"17"	"7127698"	"7127698"	"subst"	"0.000448244"	"02325"	"DLG4_000046"	"g.7127698C>T"	""	""	""	"ACADVL(NM_000018.4):c.1591C>T (p.(Arg531Trp), p.R531W), ACADVL(NM_001270448.1):c.1363C>T (p.R455W), ACADVL(NM_001270448.2):c.1363C>T (p.R455W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7224379C>T"	""	"VUS"	""
"0000623755"	"0"	"90"	"17"	"7125522"	"7125522"	"subst"	"2.03034E-5"	"02325"	"DLG4_000042"	"g.7125522C>T"	""	""	""	"ACADVL(NM_000018.4):c.779C>T (p.(Thr260Met)), ACADVL(NM_001270448.2):c.551C>T (p.T184M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7222203C>T"	""	"pathogenic"	""
"0000623756"	"0"	"30"	"17"	"7125567"	"7125567"	"subst"	"0"	"01943"	"DLG4_000043"	"g.7125567T>C"	""	""	""	"ACADVL(NM_001270448.1):c.596T>C (p.V199A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7222248T>C"	""	"likely benign"	""
"0000623757"	"0"	"30"	"17"	"7127146"	"7127146"	"subst"	"0.000755342"	"01943"	"DLG4_000044"	"g.7127146G>A"	""	""	""	"ACADVL(NM_001270448.1):c.1056G>A (p.K352=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7223827G>A"	""	"likely benign"	""
"0000658243"	"0"	"50"	"17"	"7127985"	"7127985"	"subst"	"0"	"02327"	"DLG4_000047"	"g.7127985T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7224666T>C"	""	"VUS"	""
"0000680999"	"0"	"70"	"17"	"7097008"	"7097008"	"subst"	"0"	"02327"	"DLG4_000048"	"g.7097008G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000681000"	"0"	"30"	"17"	"7128292"	"7128292"	"subst"	"0.00281655"	"01804"	"ACADVL_000020"	"g.7128292G>A"	""	""	""	"ACADVL(NM_000018.3):c.1844G>A (p.(Arg615Gln)), ACADVL(NM_001270448.1):c.1616G>A (p.R539Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692454"	"0"	"30"	"17"	"7123506"	"7123506"	"subst"	"0.036358"	"01804"	"DLG4_000049"	"g.7123506G>A"	""	""	""	"ACADVL(NM_000018.3):c.128G>A (p.(Gly43Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692455"	"0"	"70"	"17"	"7126549"	"7126549"	"subst"	"0"	"02327"	"DLG4_000050"	"g.7126549T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000692456"	"0"	"50"	"17"	"7127021"	"7127021"	"subst"	"0"	"02325"	"DLG4_000051"	"g.7127021A>C"	""	""	""	"ACADVL(NM_000018.4):c.1241A>C (p.E414A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692457"	"0"	"50"	"17"	"7127024"	"7127024"	"subst"	"0"	"02327"	"DLG4_000052"	"g.7127024C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692458"	"0"	"30"	"17"	"7127343"	"7127343"	"subst"	"1.21828E-5"	"01943"	"DLG4_000053"	"g.7127343G>A"	""	""	""	"ACADVL(NM_001270448.1):c.1161G>A (p.G387=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726647"	"0"	"90"	"17"	"7099828"	"7099828"	"subst"	"0"	"02325"	"DLG4_000054"	"g.7099828G>A"	""	""	""	"DLG4(NM_001365.4):c.1279C>T (p.Q427*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000726648"	"0"	"50"	"17"	"7100169"	"7100169"	"subst"	"0"	"02329"	"DLG4_000038"	"g.7100169G>A"	""	""	""	"DLG4(NM_001321075.2):c.990C>T (p.G330=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726652"	"0"	"50"	"17"	"7123945"	"7123945"	"subst"	"8.12123E-6"	"01943"	"DLG4_000055"	"g.7123945G>A"	""	""	""	"ACADVL(NM_000018.3):c.227G>A (p.G76E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726653"	"0"	"50"	"17"	"7123990"	"7123990"	"subst"	"0"	"01804"	"DLG4_000056"	"g.7123990C>A"	""	""	""	"ACADVL(NM_000018.3):c.272C>A (p.(Pro91Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726654"	"0"	"30"	"17"	"7124931"	"7124931"	"subst"	"2.84264E-5"	"01943"	"DLG4_000057"	"g.7124931C>T"	""	""	""	"ACADVL(NM_001270448.1):c.324C>T (p.I108=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726655"	"0"	"30"	"17"	"7127503"	"7127503"	"subst"	"0.000536062"	"01943"	"DLG4_000058"	"g.7127503A>G"	""	""	""	"ACADVL(NM_001270448.1):c.1245A>G (p.L415=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726656"	"0"	"50"	"17"	"7127641"	"7127641"	"subst"	"4.88751E-5"	"01943"	"DLG4_000059"	"g.7127641C>T"	""	""	""	"ACADVL(NM_000018.4):c.1534C>T (p.(Arg512Trp)), ACADVL(NM_001270448.1):c.1306C>T (p.R436W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726657"	"0"	"50"	"17"	"7127698"	"7127698"	"subst"	"0.000448244"	"02329"	"DLG4_000046"	"g.7127698C>T"	""	""	""	"ACADVL(NM_000018.4):c.1591C>T (p.(Arg531Trp), p.R531W), ACADVL(NM_001270448.1):c.1363C>T (p.R455W), ACADVL(NM_001270448.2):c.1363C>T (p.R455W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808241"	"0"	"90"	"17"	"7123482"	"7123482"	"del"	"0"	"01943"	"DLG4_000024"	"g.7123482del"	""	""	""	"ACADVL(NM_000018.3):c.104delC (p.P35Lfs*26), ACADVL(NM_000018.4):c.104del (p.(Pro35Leufs*26))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000808242"	"0"	"50"	"17"	"7127982"	"7127982"	"subst"	"0.000104078"	"01943"	"DLG4_000033"	"g.7127982G>A"	""	""	""	"ACADVL(NM_001270448.1):c.1472G>A (p.R491Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000808243"	"0"	"30"	"17"	"7128200"	"7128200"	"subst"	"0.0013323"	"01943"	"DLG4_000060"	"g.7128200C>T"	""	""	""	"ACADVL(NM_001270448.1):c.1596C>T (p.I532=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000824006"	"0"	"50"	"17"	"7100159"	"7100159"	"subst"	"0"	"02494"	"DLG4_000061"	"g.7100159C>T"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	""
"0000855080"	"0"	"30"	"17"	"7125523"	"7125523"	"subst"	"0.000312685"	"01943"	"DLG4_000063"	"g.7125523G>A"	""	""	""	"ACADVL(NM_001270448.1):c.552G>A (p.T184=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865479"	"0"	"50"	"17"	"7099875"	"7099875"	"subst"	"0"	"02325"	"DLG4_000062"	"g.7099875C>T"	""	""	""	"DLG4(NM_001365.4):c.1232G>A (p.R411Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865482"	"0"	"30"	"17"	"7123443"	"7123443"	"subst"	"0.000119036"	"01943"	"DLG4_000023"	"g.7123443C>T"	""	""	""	"ACADVL(NM_000018.3):c.65C>T (p.S22L, p.(Ser22Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000871082"	"0"	"90"	"17"	"7099645"	"7099645"	"subst"	"0"	"01164"	"DLG4_000022"	"g.7099645G>A"	""	""	""	""	"ACMG: PVS1, PM6, PM2_SUP"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	"VCV001329892.1"	"pathogenic (dominant)"	"ACMG"
"0000880522"	"0"	"90"	"17"	"7107344"	"7107344"	"subst"	"0"	"00006"	"DLG4_000095"	"g.7107344C>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7204025C>A"	""	"pathogenic (dominant)"	""
"0000880523"	"0"	"90"	"17"	"7107326"	"7107326"	"subst"	"0"	"00006"	"DLG4_000094"	"g.7107326C>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7204007C>A"	""	"pathogenic (dominant)"	""
"0000880524"	"0"	"90"	"17"	"7107137"	"7107137"	"subst"	"0"	"00006"	"DLG4_000093"	"g.7107137T>C"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203818T>C"	""	"pathogenic (dominant)"	""
"0000880525"	"0"	"90"	"17"	"7107137"	"7107137"	"subst"	"0"	"00006"	"DLG4_000093"	"g.7107137T>C"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203818T>C"	""	"pathogenic (dominant)"	""
"0000880526"	"0"	"90"	"17"	"7107128"	"7107128"	"subst"	"0"	"00006"	"DLG4_000065"	"g.7107128G>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203809G>C"	""	"pathogenic (dominant)"	""
"0000880527"	"0"	"90"	"17"	"7107103"	"7107103"	"dup"	"0"	"00006"	"DLG4_000092"	"g.7107103dup"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203784dup"	""	"pathogenic (dominant)"	""
"0000880528"	"0"	"90"	"17"	"7107027"	"7107027"	"subst"	"0"	"00006"	"DLG4_000014"	"g.7107027G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203708G>A"	""	"pathogenic (dominant)"	""
"0000880529"	"0"	"90"	"17"	"7107021"	"7107021"	"del"	"0"	"00006"	"DLG4_000091"	"g.7107021del"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203702del"	""	"pathogenic (dominant)"	""
"0000880530"	"0"	"90"	"17"	"7106909"	"7106909"	"del"	"0"	"00006"	"DLG4_000090"	"g.7106909del"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203590del"	""	"pathogenic (dominant)"	""
"0000880531"	"0"	"90"	"17"	"7106770"	"7106770"	"subst"	"0"	"00006"	"DLG4_000089"	"g.7106770C>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203451C>A"	""	"pathogenic (dominant)"	""
"0000880532"	"0"	"90"	"17"	"7106629"	"7106629"	"dup"	"0"	"00006"	"DLG4_000088"	"g.7106629dup"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203310dup"	""	"pathogenic (dominant)"	""
"0000880533"	"0"	"70"	"17"	"7106624"	"7106624"	"subst"	"0"	"00006"	"DLG4_000087"	"g.7106624C>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203305C>A"	""	"likely pathogenic (dominant)"	""
"0000880534"	"0"	"70"	"17"	"7106597"	"7106597"	"subst"	"0"	"00006"	"DLG4_000086"	"g.7106597T>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7203278T>A"	""	"likely pathogenic (dominant)"	""
"0000880535"	"21"	"70"	"17"	"7106562"	"7106562"	"subst"	"0"	"00006"	"DLG4_000067"	"g.7106562C>T"	""	"{PMID:Xing 2016:27271353}"	""	"583G>A (G241S)"	""	"Germline"	""	""	"0"	""	""	"g.7203243C>T"	""	"VUS"	""
"0000880536"	"0"	"90"	"17"	"7106550"	"7106550"	"del"	"0"	"00006"	"DLG4_000085"	"g.7106550del"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	"c.734delA"	""	"De novo"	""	""	"0"	""	""	"g.7203231del"	""	"pathogenic (dominant)"	""
"0000880537"	"0"	"90"	"17"	"7106220"	"7106220"	"subst"	"0"	"00006"	"DLG4_000084"	"g.7106220A>G"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7202901A>G"	""	"pathogenic (dominant)"	""
"0000880538"	"0"	"90"	"17"	"7100367"	"7100367"	"subst"	"0"	"00006"	"DLG4_000083"	"g.7100367A>T"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7197048A>T"	""	"pathogenic (dominant)"	""
"0000880539"	"0"	"90"	"17"	"7100234"	"7100234"	"subst"	"0"	"00006"	"DLG4_000013"	"g.7100234G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196915G>A"	""	"pathogenic (dominant)"	""
"0000880540"	"0"	"90"	"17"	"7100234"	"7100234"	"subst"	"0"	"00006"	"DLG4_000013"	"g.7100234G>A"	""	"{PMID:Lelieveld 2016:27479843}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196915G>A"	""	"pathogenic (dominant)"	""
"0000880541"	"0"	"90"	"17"	"7100234"	"7100234"	"subst"	"0"	"00006"	"DLG4_000013"	"g.7100234G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	"father not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7196915G>A"	""	"pathogenic (dominant)"	""
"0000880542"	"0"	"90"	"17"	"7100169"	"7100169"	"subst"	"0"	"00006"	"DLG4_000038"	"g.7100169G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196850G>A"	""	"pathogenic (dominant)"	""
"0000880543"	"0"	"70"	"17"	"7100164"	"7100164"	"subst"	"0"	"00006"	"DLG4_000066"	"g.7100164T>C"	""	"{PMID:Xing 2016:27271353}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7196845T>C"	""	"VUS"	""
"0000880545"	"0"	"90"	"17"	"7100076"	"7100076"	"subst"	"0"	"00006"	"DLG4_000082"	"g.7100076C>T"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196757C>T"	""	"pathogenic (dominant)"	""
"0000880546"	"21"	"90"	"17"	"7099895"	"7099895"	"subst"	"0"	"00006"	"DLG4_000081"	"g.7099895C>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	"maternal mosicism"	"Germline"	""	""	"0"	""	""	"g.7196576C>A"	""	"pathogenic (dominant)"	""
"0000880547"	"0"	"90"	"17"	"7099876"	"7099876"	"subst"	"0"	"00006"	"DLG4_000012"	"g.7099876G>A"	""	"{PMID:Lelieveld 2016:27479843}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196557G>A"	""	"pathogenic (dominant)"	""
"0000880548"	"0"	"90"	"17"	"7099645"	"7099645"	"subst"	"0"	"00006"	"DLG4_000022"	"g.7099645G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196326G>A"	""	"pathogenic (dominant)"	""
"0000880549"	"0"	"90"	"17"	"7099645"	"7099645"	"subst"	"0"	"00006"	"DLG4_000022"	"g.7099645G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196326G>A"	""	"pathogenic (dominant)"	""
"0000880550"	"0"	"90"	"17"	"7099645"	"7099645"	"subst"	"0"	"00006"	"DLG4_000022"	"g.7099645G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196326G>A"	""	"pathogenic (dominant)"	""
"0000880551"	"0"	"90"	"17"	"7099639"	"7099639"	"subst"	"0"	"00006"	"DLG4_000080"	"g.7099639C>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7196320C>A"	""	"pathogenic (dominant)"	""
"0000880552"	"0"	"90"	"17"	"7097682"	"7097682"	"dup"	"0"	"00006"	"DLG4_000015"	"g.7097682dup"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7194363dup"	""	"pathogenic (dominant)"	""
"0000880553"	"0"	"90"	"17"	"7097660"	"7097660"	"del"	"0"	"00006"	"DLG4_000079"	"g.7097660del"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	"suspected germline mosaicism parent"	"De novo"	""	""	"0"	""	""	"g.7194341del"	""	"pathogenic (dominant)"	""
"0000880554"	"0"	"90"	"17"	"7097660"	"7097660"	"del"	"0"	"00006"	"DLG4_000079"	"g.7097660del"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	"suspected germline mosaicism parent"	"De novo"	""	""	"0"	""	""	"g.7194341del"	""	"pathogenic (dominant)"	""
"0000880555"	"0"	"90"	"17"	"7097636"	"7097636"	"subst"	"0"	"00006"	"DLG4_000078"	"g.7097636A>G"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7194317A>G"	""	"pathogenic (dominant)"	""
"0000880556"	"0"	"70"	"17"	"7097621"	"7097636"	"del"	"0"	"00006"	"DLG4_000077"	"g.7097621_7097636del"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7194302_7194317del"	""	"likely pathogenic (dominant)"	""
"0000880557"	"0"	"90"	"17"	"7097309"	"7097309"	"subst"	"0"	"00006"	"DLG4_000019"	"g.7097309G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7193990G>A"	""	"pathogenic (dominant)"	""
"0000880558"	"0"	"90"	"17"	"7097309"	"7097309"	"subst"	"0"	"00006"	"DLG4_000019"	"g.7097309G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7193990G>A"	""	"pathogenic (dominant)"	""
"0000880559"	"0"	"90"	"17"	"7097301"	"7097301"	"subst"	"0"	"00006"	"DLG4_000076"	"g.7097301C>T"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7193982C>T"	""	"pathogenic (dominant)"	""
"0000880560"	"0"	"90"	"17"	"7097302"	"7097302"	"subst"	"0"	"00006"	"DLG4_000068"	"g.7097302C>T"	""	"{PMID:Baker 2019:30577886}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7193983C>T"	""	"pathogenic (dominant)"	""
"0000880562"	"0"	"90"	"17"	"7097031"	"7097031"	"subst"	"0"	"00006"	"DLG4_000075"	"g.7097031G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7193712G>A"	""	"pathogenic (dominant)"	""
"0000880563"	"0"	"90"	"17"	"7096904"	"7096904"	"subst"	"0"	"00006"	"DLG4_000074"	"g.7096904C>T"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7193585C>T"	""	"pathogenic (dominant)"	""
"0000880564"	"0"	"90"	"17"	"7096823"	"7096823"	"subst"	"0"	"00006"	"DLG4_000073"	"g.7096823T>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7193504T>A"	""	"pathogenic (dominant)"	""
"0000880565"	"0"	"90"	"17"	"7096801"	"7096801"	"subst"	"0"	"00006"	"DLG4_000016"	"g.7096801C>T"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7193482C>T"	""	"pathogenic (dominant)"	""
"0000880567"	"0"	"70"	"17"	"7096373"	"7096373"	"subst"	"0"	"00006"	"DLG4_000072"	"g.7096373C>T"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7193054C>T"	""	"likely pathogenic (dominant)"	""
"0000880568"	"0"	"70"	"17"	"7096298"	"7096298"	"subst"	"0"	"00006"	"DLG4_000064"	"g.7096298G>A"	""	"{PMID:Rauch 2012:23020937}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7192979G>A"	""	"likely pathogenic (dominant)"	""
"0000880569"	"0"	"90"	"17"	"7096281"	"7096281"	"subst"	"0"	"00006"	"DLG4_000011"	"g.7096281G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7192962G>A"	""	"pathogenic (dominant)"	""
"0000880570"	"0"	"90"	"17"	"7096281"	"7096281"	"subst"	"0"	"00006"	"DLG4_000011"	"g.7096281G>A"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7192962G>A"	""	"pathogenic (dominant)"	""
"0000880571"	"0"	"90"	"17"	"7096276"	"7096276"	"del"	"0"	"00006"	"DLG4_000071"	"g.7096276del"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7192957del"	""	"pathogenic (dominant)"	""
"0000880572"	"0"	"90"	"17"	"7095310"	"7095310"	"subst"	"0"	"00006"	"DLG4_000070"	"g.7095310G>T"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7191991G>T"	""	"pathogenic (dominant)"	""
"0000880573"	"0"	"90"	"17"	"7094124"	"7094128"	"delins"	"0"	"00006"	"DLG4_000069"	"g.7094124_7094128delinsA"	""	"{PMID:Rodríguez-Palmero 2021:33597769}, {DOI:Rodríguez-Palmero 2021:10.1038/s41436-020-01075-9}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7190805_7190809delinsA"	""	"pathogenic (dominant)"	""
"0000894229"	"0"	"70"	"17"	"7094120"	"7094120"	"dup"	"0"	"02329"	"DLG4_000009"	"g.7094120dup"	""	""	""	"DLG4(NM_001321075.3):c.2082dupT (p.D695*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000894230"	"0"	"90"	"17"	"7099531"	"7099547"	"del"	"0"	"02329"	"ACADVL_000070"	"g.7099531_7099547del"	""	""	""	"DLG4(NM_001365.4):c.1424_1430+10delACATCAGGTCAGAGGCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894234"	"0"	"30"	"17"	"7125284"	"7125284"	"subst"	"0.00137318"	"02327"	"DVL2_000001"	"g.7125284C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894235"	"0"	"50"	"17"	"7125506"	"7125506"	"subst"	"0"	"02327"	"DVL2_000002"	"g.7125506C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000894236"	"0"	"90"	"17"	"7125608"	"7125608"	"subst"	"0.000109686"	"02326"	"ACADVL_000001"	"g.7125608G>A"	""	""	""	"ACADVL(NM_000018.4):c.865G>A (p.G289R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894237"	"0"	"50"	"17"	"7128287"	"7128287"	"subst"	"0.00053249"	"02327"	"DLG4_000034"	"g.7128287G>A"	""	""	""	"ACADVL(NM_001270448.1):c.1611G>A (p.R537=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000908570"	"0"	"70"	"17"	"7100298"	"7100298"	"subst"	"0"	"01164"	"DLG4_000096"	"g.7100298G>A"	""	""	""	""	"ACMG: PS3, PS2_MOD, PS4_SUP, PM2_SUP; found de novo in trio-exome, also detected in similar affected brother in de novo constellation"	"De novo"	"yes"	""	"0"	""	""	"g.7196979G>A"	"VCV000870938.13"	"likely pathogenic (dominant)"	"ACMG"
"0000926633"	"0"	"50"	"17"	"7127674"	"7127674"	"subst"	"0.000415384"	"01804"	"DVL2_000003"	"g.7127674G>A"	""	""	""	"ACADVL(NM_000018.3):c.1567G>A (p.(Gly523Arg)), ACADVL(NM_000018.4):c.1567G>A (p.G523R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930880"	"0"	"50"	"17"	"7097695"	"7097695"	"subst"	"1.23296E-5"	"02327"	"ACADVL_000071"	"g.7097695C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000933706"	"0"	"50"	"17"	"7106865"	"7106870"	"del"	"0"	"01164"	"DLG4_000097"	"g.7106865_7106870del"	""	""	"LanerMGZ"	""	"ACMG: PM4, PS2_SUP, PM2_SUP, PP2, confirmed de novo in trio exome"	"De novo"	"-"	""	"0"	""	""	"g.7203546_7203551del"	""	"VUS"	"ACMG"
"0000933820"	"0"	"90"	"17"	"7097191"	"7097191"	"subst"	"0"	"03779"	"DLG4_000098"	"g.7097191C>T"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000944549"	"0"	"70"	"17"	"7100160"	"7100161"	"dup"	"0"	"03779"	"DLG4_000099"	"g.7100160_7100161dup"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000945243"	"0"	"90"	"17"	"7100160"	"7100161"	"dup"	"0"	"03779"	"DLG4_000099"	"g.7100160_7100161dup"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000951029"	"0"	"30"	"17"	"7123221"	"7123221"	"subst"	"1.42704E-5"	"01804"	"ACADVL_000074"	"g.7123221G>C"	""	""	""	"DLG4(NM_001128827.1):c.-2755C>G (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951030"	"0"	"30"	"17"	"7129898"	"7129898"	"subst"	"0.0143975"	"01804"	"DVL2_000004"	"g.7129898G>A"	""	""	""	"DVL2(NM_004422.2):c.1604C>T (p.(Thr535Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969212"	"0"	"30"	"17"	"7127894"	"7127894"	"subst"	"0.00159147"	"02326"	"DVL2_000005"	"g.7127894C>T"	""	""	""	"ACADVL(NM_000018.4):c.1678+23C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982754"	"0"	"30"	"17"	"7106320"	"7106320"	"subst"	"0"	"01804"	"ACADVL_000076"	"g.7106320G>A"	""	""	""	"DLG4(NM_001321075.3):c.689C>T (p.(Ala230Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982755"	"0"	"30"	"17"	"7111487"	"7111487"	"subst"	"4.09876E-5"	"01804"	"ACADVL_000077"	"g.7111487G>T"	""	""	""	"DLG4(NM_001321075.3):c.96+6C>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982762"	"0"	"50"	"17"	"7120475"	"7120475"	"subst"	"0"	"01804"	"ACADVL_000078"	"g.7120475G>A"	""	""	""	"ACADVL(NM_001270447.2):c.11G>A (p.(Gly4Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982763"	"0"	"50"	"17"	"7120478"	"7120478"	"subst"	"0.0011959"	"01804"	"ACADVL_000079"	"g.7120478T>C"	""	""	""	"ACADVL(NM_001270447.2):c.14T>C (p.(Leu5Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982764"	"0"	"50"	"17"	"7121041"	"7121041"	"subst"	"0.000316086"	"01804"	"ACADVL_000080"	"g.7121041G>A"	""	""	""	"ACADVL(NM_001270447.2):c.35G>A (p.(Arg12Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982765"	"0"	"50"	"17"	"7124093"	"7124093"	"subst"	"0.000117764"	"01804"	"ACADVL_000009"	"g.7124093G>A"	""	""	""	"ACADVL(NM_000018.4):c.286G>A (p.(Glu96Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982766"	"0"	"30"	"17"	"7124115"	"7124115"	"subst"	"0.0014012"	"01804"	"DVL2_000006"	"g.7124115A>G"	""	""	""	"ACADVL(NM_000018.4):c.308A>G (p.(Lys103Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982767"	"0"	"30"	"17"	"7125263"	"7125263"	"subst"	"0.00194262"	"02326"	"DVL2_000007"	"g.7125263C>T"	""	""	""	"ACADVL(NM_000018.4):c.623-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982768"	"0"	"50"	"17"	"7125561"	"7125561"	"subst"	"0.00027207"	"01804"	"DVL2_000008"	"g.7125561G>C"	""	""	""	"ACADVL(NM_000018.4):c.818G>C (p.(Gly273Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982769"	"0"	"90"	"17"	"7127184"	"7127184"	"subst"	"2.43748E-5"	"01804"	"ACADVL_000004"	"g.7127184G>A"	""	""	""	"ACADVL(NM_000018.4):c.1322G>A (p.(Gly441Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000982770"	"0"	"50"	"17"	"7127308"	"7127308"	"subst"	"0"	"01804"	"DVL2_000009"	"g.7127308C>T"	""	""	""	"ACADVL(NM_000018.4):c.1354C>T (p.(Leu452Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982771"	"0"	"50"	"17"	"7127641"	"7127641"	"subst"	"4.88751E-5"	"01804"	"DLG4_000059"	"g.7127641C>T"	""	""	""	"ACADVL(NM_000018.4):c.1534C>T (p.(Arg512Trp)), ACADVL(NM_001270448.1):c.1306C>T (p.R436W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982772"	"0"	"90"	"17"	"7127698"	"7127698"	"subst"	"0.000448244"	"01804"	"DLG4_000046"	"g.7127698C>T"	""	""	""	"ACADVL(NM_000018.4):c.1591C>T (p.(Arg531Trp), p.R531W), ACADVL(NM_001270448.1):c.1363C>T (p.R455W), ACADVL(NM_001270448.2):c.1363C>T (p.R455W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000982773"	"0"	"30"	"17"	"7127707"	"7127707"	"subst"	"0.00194394"	"02326"	"ACADVL_000002"	"g.7127707G>A"	""	""	""	"ACADVL(NM_000018.4):c.1600G>A (p.E534K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003630"	"0"	"50"	"17"	"7096796"	"7096796"	"subst"	"1.14457E-5"	"01804"	"ACADVL_000086"	"g.7096796A>G"	""	""	""	"DLG4(NM_001365.3):c.1822+6T>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003631"	"0"	"30"	"17"	"7097021"	"7097021"	"subst"	"2.81881E-5"	"01804"	"ACADVL_000087"	"g.7097021G>A"	""	""	""	"DLG4(NM_001365.3):c.1685C>T (p.(Ser562Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003632"	"0"	"90"	"17"	"7100234"	"7100234"	"subst"	"0"	"02329"	"DLG4_000013"	"g.7100234G>A"	""	""	""	"DLG4(NM_001365.3):c.1054C>T (p.(Arg352Ter)), DLG4(NM_001365.4):c.1054C>T (p.R352*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001003633"	"0"	"30"	"17"	"7106339"	"7106339"	"subst"	"1.21901E-5"	"01804"	"ACADVL_000088"	"g.7106339T>C"	""	""	""	"DLG4(NM_001365.3):c.799A>G (p.(Met267Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003634"	"0"	"30"	"17"	"7106622"	"7106622"	"subst"	"0"	"01804"	"ACADVL_000089"	"g.7106622C>G"	""	""	""	"DLG4(NM_001365.3):c.661G>C (p.(Val221Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001027052"	"0"	"50"	"17"	"7127674"	"7127674"	"subst"	"0.000415384"	"02325"	"DVL2_000003"	"g.7127674G>A"	""	""	""	"ACADVL(NM_000018.3):c.1567G>A (p.(Gly523Arg)), ACADVL(NM_000018.4):c.1567G>A (p.G523R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042144"	"0"	"50"	"17"	"7106812"	"7106812"	"subst"	"0"	"01804"	"ACADVL_000108"	"g.7106812G>C"	""	""	""	"DLG4(NM_001321075.3):c.436C>G (p.(Leu146Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042149"	"0"	"50"	"17"	"7123499"	"7123499"	"subst"	"2.38626E-5"	"01804"	"ACADVL_000109"	"g.7123499G>A"	""	""	""	"ACADVL(NM_000018.4):c.121G>A (p.(Ala41Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042150"	"0"	"30"	"17"	"7123516"	"7123516"	"subst"	"3.2174E-5"	"01804"	"ACADVL_000110"	"g.7123516G>A"	""	""	""	"ACADVL(NM_001270448.2):c.-91G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042151"	"0"	"70"	"17"	"7125522"	"7125522"	"subst"	"2.03034E-5"	"01804"	"DLG4_000042"	"g.7125522C>T"	""	""	""	"ACADVL(NM_000018.4):c.779C>T (p.(Thr260Met)), ACADVL(NM_001270448.2):c.551C>T (p.T184M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001046668"	"0"	"30"	"17"	"7125469"	"7125469"	"subst"	"0.00164861"	"02326"	"DVL2_000010"	"g.7125469C>T"	""	""	""	"ACADVL(NM_000018.4):c.753-27C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055798"	"0"	"70"	"17"	"7099807"	"7099807"	"subst"	"0"	"01804"	"ACADVL_000111"	"g.7099807G>A"	""	""	""	"DLG4(NM_001321075.3):c.1171C>T (p.(Gln391*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001055799"	"0"	"30"	"17"	"7107519"	"7107519"	"subst"	"1.24097E-5"	"01804"	"ACADVL_000112"	"g.7107519T>A"	""	""	""	"DLG4(NM_001321075.3):c.149A>T (p.(Tyr50Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055800"	"0"	"50"	"17"	"7121040"	"7121040"	"subst"	"8.10478E-6"	"01804"	"ACADVL_000113"	"g.7121040C>T"	""	""	""	"ACADVL(NM_001270447.2):c.34C>T (p.(Arg12Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## 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 DLG4
## Count = 172
"{{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}}"
"0000067230"	"00025756"	"90"	"277"	"0"	"277"	"0"	"c.277dup"	"r.(?)"	"p.(Tyr93Leufs*2)"	""
"0000079325"	"00025756"	"90"	"-110265"	"0"	"100643"	"0"	"c.-110265_*98339del"	"r.0?"	"p.0?"	""
"0000236322"	"00025756"	"70"	"1843"	"0"	"1843"	"0"	"c.1843del"	"r.1843del"	"p.Glu615Serfs*4"	""
"0000236336"	"00025756"	"90"	"1147"	"0"	"1154"	"0"	"c.1147_1154del"	"r.1147_1154del"	"p.Phe383Glyfs*31"	""
"0000236337"	"00025756"	"90"	"1672"	"2"	"1672"	"2"	"c.1672+2T>C"	"r.spl?"	"p.?"	""
"0000258875"	"00025756"	"10"	"-5550"	"0"	"-5550"	"0"	"c.-5550A>G"	"r.(?)"	"p.(=)"	""
"0000260480"	"00025756"	"30"	"-5234"	"0"	"-5234"	"0"	"c.-5234A>T"	"r.(?)"	"p.(=)"	""
"0000260481"	"00025756"	"30"	"-5294"	"0"	"-5294"	"0"	"c.-5294A>G"	"r.(?)"	"p.(=)"	""
"0000260482"	"00025756"	"30"	"-6124"	"0"	"-6124"	"0"	"c.-6124C>T"	"r.(?)"	"p.(=)"	""
"0000260483"	"00025756"	"30"	"-2600"	"0"	"-2600"	"0"	"c.-2600A>G"	"r.(?)"	"p.(=)"	""
"0000261761"	"00025756"	"30"	"159"	"1073"	"159"	"1073"	"c.159+1073G>A"	"r.(=)"	"p.(=)"	""
"0000261762"	"00025756"	"10"	"-3173"	"0"	"-3173"	"0"	"c.-3173A>T"	"r.(?)"	"p.(=)"	""
"0000325141"	"00025756"	"50"	"318"	"0"	"318"	"0"	"c.318C>A"	"r.(?)"	"p.(Tyr106Ter)"	""
"0000325142"	"00025756"	"50"	"317"	"0"	"317"	"0"	"c.317A>T"	"r.(?)"	"p.(Tyr106Phe)"	""
"0000325145"	"00025756"	"50"	"-5400"	"0"	"-5400"	"0"	"c.-5400G>A"	"r.(?)"	"p.(=)"	""
"0000338973"	"00025756"	"90"	"-3326"	"0"	"-3326"	"0"	"c.-3326T>G"	"r.(?)"	"p.(=)"	""
"0000342708"	"00025756"	"70"	"1054"	"0"	"1054"	"0"	"c.1054C>T"	"r.(?)"	"p.(Arg352Ter)"	""
"0000342851"	"00025756"	"50"	"1231"	"0"	"1231"	"0"	"c.1231C>T"	"r.(?)"	"p.(Arg411Ter)"	""
"0000343106"	"00025756"	"30"	"-1305"	"0"	"-1305"	"0"	"c.-1305C>T"	"r.(?)"	"p.(=)"	""
"0000343222"	"00025756"	"70"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660Ter)"	""
"0000344566"	"00025756"	"70"	"448"	"0"	"448"	"0"	"c.448C>T"	"r.(?)"	"p.(Gln150Ter)"	""
"0000499838"	"00025756"	"70"	"1822"	"1"	"1822"	"1"	"c.1822+1G>A"	"r.spl"	"p.?"	""
"0000562912"	"00025756"	"50"	"1802"	"0"	"1802"	"0"	"c.1802A>G"	"r.(?)"	"p.(Lys601Arg)"	""
"0000562913"	"00025756"	"70"	"1618"	"0"	"1618"	"0"	"c.1618C>T"	"r.(?)"	"p.(Arg540Ter)"	""
"0000562914"	"00025756"	"70"	"1615"	"0"	"1615"	"0"	"c.1615C>T"	"r.(?)"	"p.(Arg539Ter)"	""
"0000562915"	"00025756"	"50"	"1514"	"0"	"1514"	"0"	"c.1514T>A"	"r.(?)"	"p.(Val505Asp)"	""
"0000562916"	"00025756"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442Ter)"	""
"0000562917"	"00025756"	"50"	"1054"	"0"	"1054"	"0"	"c.1054C>T"	"r.(?)"	"p.(Arg352Ter)"	""
"0000562918"	"00025756"	"50"	"299"	"0"	"299"	"0"	"c.299C>T"	"r.(?)"	"p.(Thr100Ile)"	""
"0000562933"	"00025756"	"50"	"-1275"	"0"	"-1275"	"0"	"c.-1275G>A"	"r.(?)"	"p.(=)"	""
"0000562934"	"00025756"	"90"	"-1312"	"0"	"-1312"	"0"	"c.-1312del"	"r.(?)"	"p.(=)"	""
"0000562935"	"00025756"	"50"	"-1613"	"0"	"-1613"	"0"	"c.-1613T>A"	"r.(?)"	"p.(=)"	""
"0000562937"	"00025756"	"10"	"-1670"	"0"	"-1670"	"0"	"c.-1670G>A"	"r.(?)"	"p.(=)"	""
"0000562938"	"00025756"	"30"	"-2583"	"0"	"-2583"	"0"	"c.-2583A>G"	"r.(?)"	"p.(=)"	""
"0000562939"	"00025756"	"30"	"-2691"	"0"	"-2691"	"0"	"c.-2691G>A"	"r.(?)"	"p.(=)"	""
"0000562940"	"00025756"	"30"	"-2706"	"0"	"-2706"	"0"	"c.-2706C>T"	"r.(?)"	"p.(=)"	""
"0000562941"	"00025756"	"50"	"-3423"	"0"	"-3423"	"0"	"c.-3423A>G"	"r.(?)"	"p.(=)"	""
"0000562942"	"00025756"	"90"	"-3423"	"0"	"-3423"	"0"	"c.-3423A>G"	"r.(?)"	"p.(=)"	""
"0000562945"	"00025756"	"90"	"-5016"	"0"	"-5016"	"0"	"c.-5016C>T"	"r.(?)"	"p.(=)"	""
"0000562946"	"00025756"	"70"	"-5152"	"0"	"-5152"	"0"	"c.-5152G>C"	"r.(?)"	"p.(=)"	""
"0000562947"	"00025756"	"10"	"-5550"	"0"	"-5550"	"0"	"c.-5550A>G"	"r.(?)"	"p.(=)"	""
"0000562948"	"00025756"	"70"	"-5814"	"0"	"-5814"	"0"	"c.-5814C>T"	"r.(?)"	"p.(=)"	""
"0000562949"	"00025756"	"30"	"-6119"	"0"	"-6119"	"0"	"c.-6119C>T"	"r.(?)"	"p.(=)"	""
"0000562950"	"00025756"	"30"	"-6124"	"0"	"-6124"	"0"	"c.-6124C>T"	"r.(?)"	"p.(=)"	""
"0000562951"	"00025756"	"30"	"-7347"	"0"	"-7347"	"0"	"c.-7347G>A"	"r.(?)"	"p.(=)"	""
"0000562952"	"00025756"	"30"	"-10124"	"0"	"-10124"	"0"	"c.-10124C>G"	"r.(?)"	"p.(=)"	""
"0000562953"	"00025756"	"30"	"-10606"	"0"	"-10606"	"0"	"c.-10606C>T"	"r.(?)"	"p.(=)"	""
"0000616788"	"00025756"	"10"	"159"	"455"	"159"	"455"	"c.159+455G>T"	"r.(=)"	"p.(=)"	""
"0000616789"	"00025756"	"30"	"-1324"	"0"	"-1324"	"0"	"c.-1324C>G"	"r.(?)"	"p.(=)"	""
"0000616790"	"00025756"	"30"	"-1674"	"0"	"-1674"	"0"	"c.-1674G>C"	"r.(?)"	"p.(=)"	""
"0000616791"	"00025756"	"30"	"-5505"	"0"	"-5505"	"0"	"c.-5505G>A"	"r.(?)"	"p.(=)"	""
"0000616792"	"00025756"	"50"	"-5530"	"0"	"-5530"	"0"	"c.-5530G>A"	"r.(?)"	"p.(=)"	""
"0000623755"	"00025756"	"90"	"-3354"	"0"	"-3354"	"0"	"c.-3354G>A"	"r.(?)"	"p.(=)"	""
"0000623756"	"00025756"	"30"	"-3399"	"0"	"-3399"	"0"	"c.-3399A>G"	"r.(?)"	"p.(=)"	""
"0000623757"	"00025756"	"30"	"-4978"	"0"	"-4978"	"0"	"c.-4978C>T"	"r.(?)"	"p.(=)"	""
"0000658243"	"00025756"	"50"	"-5817"	"0"	"-5817"	"0"	"c.-5817A>G"	"r.(?)"	"p.(=)"	""
"0000680999"	"00025756"	"70"	"1698"	"0"	"1698"	"0"	"c.1698C>G"	"r.(?)"	"p.(Tyr566Ter)"	""
"0000681000"	"00025756"	"30"	"-6124"	"0"	"-6124"	"0"	"c.-6124C>T"	"r.(?)"	"p.(=)"	""
"0000692454"	"00025756"	"30"	"-1338"	"0"	"-1338"	"0"	"c.-1338C>T"	"r.(?)"	"p.(=)"	""
"0000692455"	"00025756"	"70"	"-4381"	"0"	"-4381"	"0"	"c.-4381A>G"	"r.(?)"	"p.(=)"	""
"0000692456"	"00025756"	"50"	"-4853"	"0"	"-4853"	"0"	"c.-4853T>G"	"r.(?)"	"p.(=)"	""
"0000692457"	"00025756"	"50"	"-4856"	"0"	"-4856"	"0"	"c.-4856G>A"	"r.(?)"	"p.(=)"	""
"0000692458"	"00025756"	"30"	"-5175"	"0"	"-5175"	"0"	"c.-5175C>T"	"r.(?)"	"p.(=)"	""
"0000726647"	"00025756"	"90"	"1279"	"0"	"1279"	"0"	"c.1279C>T"	"r.(?)"	"p.(Gln427*)"	""
"0000726648"	"00025756"	"50"	"1119"	"0"	"1119"	"0"	"c.1119C>T"	"r.(?)"	"p.(Gly373=)"	""
"0000726652"	"00025756"	"50"	"-1777"	"0"	"-1777"	"0"	"c.-1777C>T"	"r.(?)"	"p.(=)"	""
"0000726653"	"00025756"	"50"	"-1822"	"0"	"-1822"	"0"	"c.-1822G>T"	"r.(?)"	"p.(=)"	""
"0000726654"	"00025756"	"30"	"-2763"	"0"	"-2763"	"0"	"c.-2763G>A"	"r.(?)"	"p.(=)"	""
"0000726655"	"00025756"	"30"	"-5335"	"0"	"-5335"	"0"	"c.-5335T>C"	"r.(?)"	"p.(=)"	""
"0000726656"	"00025756"	"50"	"-5473"	"0"	"-5473"	"0"	"c.-5473G>A"	"r.(?)"	"p.(=)"	""
"0000726657"	"00025756"	"50"	"-5530"	"0"	"-5530"	"0"	"c.-5530G>A"	"r.(?)"	"p.(=)"	""
"0000808241"	"00025756"	"90"	"-1312"	"0"	"-1312"	"0"	"c.-1312del"	"r.(?)"	"p.(=)"	""
"0000808242"	"00025756"	"50"	"-5814"	"0"	"-5814"	"0"	"c.-5814C>T"	"r.(?)"	"p.(=)"	""
"0000808243"	"00025756"	"30"	"-6032"	"0"	"-6032"	"0"	"c.-6032G>A"	"r.(?)"	"p.(=)"	""
"0000824006"	"00025756"	"50"	"1129"	"0"	"1129"	"0"	"c.1129G>A"	"r.(?)"	"p.(Glu377Lys)"	""
"0000855080"	"00025756"	"30"	"-3355"	"0"	"-3355"	"0"	"c.-3355C>T"	"r.(?)"	"p.(=)"	""
"0000865479"	"00025756"	"50"	"1232"	"0"	"1232"	"0"	"c.1232G>A"	"r.(?)"	"p.(Arg411Gln)"	""
"0000865482"	"00025756"	"30"	"-1275"	"0"	"-1275"	"0"	"c.-1275G>A"	"r.(?)"	"p.(=)"	""
"0000871082"	"00025756"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442*)"	""
"0000880522"	"00025756"	"90"	"322"	"0"	"322"	"0"	"c.322G>T"	"r.(?)"	"p.(Glu108*)"	""
"0000880523"	"00025756"	"90"	"339"	"1"	"339"	"1"	"c.339+1G>T"	"r.spl"	"p.?"	""
"0000880524"	"00025756"	"90"	"340"	"-2"	"340"	"-2"	"c.340-2A>G"	"r.spl"	"p.?"	""
"0000880525"	"00025756"	"90"	"340"	"-2"	"340"	"-2"	"c.340-2A>G"	"r.spl"	"p.?"	""
"0000880526"	"00025756"	"90"	"347"	"0"	"347"	"0"	"c.347C>G"	"r.(?)"	"p.(Ser116*)"	""
"0000880527"	"00025756"	"90"	"372"	"0"	"372"	"0"	"c.372dup"	"r.(?)"	"p.(Gly125Trpfs*3)"	""
"0000880528"	"00025756"	"90"	"448"	"0"	"448"	"0"	"c.448C>T"	"r.(?)"	"p.(Gln150*)"	""
"0000880529"	"00025756"	"90"	"455"	"0"	"455"	"0"	"c.455del"	"r.(?)"	"p.(Gly152Alafs*12)"	""
"0000880530"	"00025756"	"90"	"468"	"0"	"468"	"0"	"c.468del"	"r.(?)"	"p.(Asn157Thrfs*7)"	""
"0000880531"	"00025756"	"90"	"607"	"0"	"607"	"0"	"c.607G>T"	"r.(?)"	"p.(Glu203*)"	""
"0000880532"	"00025756"	"90"	"654"	"0"	"654"	"0"	"c.654dup"	"r.(?)"	"p.(Gly219Argfs*12)"	""
"0000880533"	"00025756"	"70"	"659"	"0"	"659"	"0"	"c.659G>T"	"r.(?)"	"p.(Gly220Val)"	""
"0000880534"	"00025756"	"70"	"686"	"0"	"686"	"0"	"c.686A>T"	"r.(?)"	"p.(Asp229Val)"	""
"0000880535"	"00025756"	"70"	"721"	"0"	"721"	"0"	"c.721G>A"	"r.(?)"	"p.(Gly241Ser)"	""
"0000880536"	"00025756"	"90"	"734"	"0"	"734"	"0"	"c.734del"	"r.(?)"	"p.(Lys245Argfs*19)"	""
"0000880537"	"00025756"	"90"	"916"	"2"	"916"	"2"	"c.916+2T>C"	"r.spl?"	"p.?"	""
"0000880538"	"00025756"	"90"	"921"	"0"	"921"	"0"	"c.921T>A"	"r.(?)"	"p.(Tyr307*)"	""
"0000880539"	"00025756"	"90"	"1054"	"0"	"1054"	"0"	"c.1054C>T"	"r.(?)"	"p.(Arg352*)"	""
"0000880540"	"00025756"	"90"	"1054"	"0"	"1054"	"0"	"c.1054C>T"	"r.(?)"	"p.(Arg352*)"	""
"0000880541"	"00025756"	"90"	"1054"	"0"	"1054"	"0"	"c.1054C>T"	"r.(?)"	"p.(Arg352*)"	""
"0000880542"	"00025756"	"90"	"1119"	"0"	"1119"	"0"	"c.1119C>T"	"r.1118_1212del"	"p.Glu373Glnfs*11"	""
"0000880543"	"00025756"	"70"	"1124"	"0"	"1124"	"0"	"c.1124A>G"	"r.(?)"	"p.(Asp375Gly)"	""
"0000880545"	"00025756"	"90"	"1212"	"0"	"1212"	"0"	"c.1212G>A"	"r.spl"	"p.?"	""
"0000880546"	"00025756"	"90"	"1213"	"-1"	"1213"	"-1"	"c.1213-1G>T"	"r.spl"	"p.?"	""
"0000880547"	"00025756"	"90"	"1231"	"0"	"1231"	"0"	"c.1231C>T"	"r.(?)"	"p.(Arg411*)"	""
"0000880548"	"00025756"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442*)"	""
"0000880549"	"00025756"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442*)"	""
"0000880550"	"00025756"	"90"	"1324"	"0"	"1324"	"0"	"c.1324C>T"	"r.(?)"	"p.(Arg442*)"	""
"0000880551"	"00025756"	"90"	"1330"	"0"	"1330"	"0"	"c.1330G>T"	"r.(?)"	"p.(Glu444*)"	""
"0000880552"	"00025756"	"90"	"1563"	"0"	"1563"	"0"	"c.1563dup"	"r.(?)"	"p.(Asp522*)"	""
"0000880553"	"00025756"	"90"	"1587"	"0"	"1587"	"0"	"c.1587del"	"r.(?)"	"p.(Phe530Serfs*16)"	""
"0000880554"	"00025756"	"90"	"1587"	"0"	"1587"	"0"	"c.1587del"	"r.(?)"	"p.(Phe530Serfs*16)"	""
"0000880555"	"00025756"	"90"	"1607"	"2"	"1607"	"2"	"c.1607+2T>C"	"r.spl?"	"p.?"	""
"0000880556"	"00025756"	"70"	"1607"	"2"	"1607"	"17"	"c.1607+2_1607+17del"	"r.spl"	"p.?"	""
"0000880557"	"00025756"	"90"	"1618"	"0"	"1618"	"0"	"c.1618C>T"	"r.(?)"	"p.(Arg540*)"	""
"0000880558"	"00025756"	"90"	"1618"	"0"	"1618"	"0"	"c.1618C>T"	"r.(?)"	"p.(Arg540*)"	""
"0000880559"	"00025756"	"90"	"1626"	"0"	"1626"	"0"	"c.1626G>A"	"r.(?)"	"p.(Trp542*)"	""
"0000880560"	"00025756"	"90"	"1625"	"0"	"1625"	"0"	"c.1625G>A"	"r.(?)"	"p.(Trp542*)"	""
"0000880562"	"00025756"	"90"	"1675"	"0"	"1675"	"0"	"c.1675C>T"	"r.(?)"	"p.(Arg559*)"	""
"0000880563"	"00025756"	"90"	"1721"	"-1"	"1721"	"-1"	"c.1721-1G>A"	"r.spl"	"p.?"	""
"0000880564"	"00025756"	"90"	"1801"	"0"	"1801"	"0"	"c.1801A>T"	"r.(?)"	"p.(Lys601*)"	""
"0000880565"	"00025756"	"90"	"1822"	"1"	"1822"	"1"	"c.1822+1G>A"	"r.spl"	"p.?"	""
"0000880567"	"00025756"	"70"	"1886"	"0"	"1886"	"0"	"c.1886G>A"	"r.spl?"	"p.(His608Argfs*14)"	""
"0000880568"	"00025756"	"70"	"1961"	"0"	"1961"	"0"	"c.1961C>T"	"r.(?)"	"p.(Thr654Ile)"	""
"0000880569"	"00025756"	"90"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660*)"	""
"0000880570"	"00025756"	"90"	"1978"	"0"	"1978"	"0"	"c.1978C>T"	"r.(?)"	"p.(Arg660*)"	""
"0000880571"	"00025756"	"90"	"1984"	"0"	"1984"	"0"	"c.1984del"	"r.(?)"	"p.(Val662Trpfs*41)"	""
"0000880572"	"00025756"	"90"	"2007"	"0"	"2007"	"0"	"c.2007C>A"	"r.(?)"	"p.(Cys669*)"	""
"0000880573"	"00025756"	"90"	"2203"	"0"	"2207"	"0"	"c.2203_2207delinsT"	"r.(?)"	"p.(Val735Trpfs*12)"	""
"0000894229"	"00025756"	"70"	"2211"	"0"	"2211"	"0"	"c.2211dup"	"r.(?)"	"p.(Asp738*)"	""
"0000894230"	"00025756"	"90"	"1424"	"0"	"1430"	"10"	"c.1424_1430+10del"	"r.spl?"	"p.?"	""
"0000894234"	"00025756"	"30"	"-3116"	"0"	"-3116"	"0"	"c.-3116G>A"	"r.(?)"	"p.(=)"	""
"0000894235"	"00025756"	"50"	"-3338"	"0"	"-3338"	"0"	"c.-3338G>C"	"r.(?)"	"p.(=)"	""
"0000894236"	"00025756"	"90"	"-3440"	"0"	"-3440"	"0"	"c.-3440C>T"	"r.(?)"	"p.(=)"	""
"0000894237"	"00025756"	"50"	"-6119"	"0"	"-6119"	"0"	"c.-6119C>T"	"r.(?)"	"p.(=)"	""
"0000908570"	"00025756"	"70"	"990"	"0"	"990"	"0"	"c.990C>T"	"r.spl?"	"p.?"	"11"
"0000926633"	"00025756"	"50"	"-5506"	"0"	"-5506"	"0"	"c.-5506C>T"	"r.(?)"	"p.(=)"	""
"0000930880"	"00025756"	"50"	"1550"	"0"	"1550"	"0"	"c.1550G>A"	"r.(?)"	"p.(Arg517Gln)"	""
"0000933706"	"00025756"	"50"	"507"	"0"	"512"	"0"	"c.507_512del"	"r.(?)"	"p.(Glu170_Val171del)"	""
"0000933820"	"00025756"	"90"	"1645"	"-1"	"1645"	"-1"	"c.1645-1G>A"	"r.(?)"	"p.(?)"	""
"0000944549"	"00025756"	"70"	"1128"	"0"	"1129"	"0"	"c.1128_1129dup"	"r.(?)"	"p.(Glu377ValfsTer47)"	""
"0000945243"	"00025756"	"90"	"1128"	"0"	"1129"	"0"	"c.1128_1129dup"	"r.(?)"	"p.(Glu377ValfsTer47)"	""
"0000951029"	"00025756"	"30"	"-1053"	"0"	"-1053"	"0"	"c.-1053C>G"	"r.(?)"	"p.(=)"	""
"0000951030"	"00025756"	"30"	"-7730"	"0"	"-7730"	"0"	"c.-7730C>T"	"r.(?)"	"p.(=)"	""
"0000969212"	"00025756"	"30"	"-5726"	"0"	"-5726"	"0"	"c.-5726G>A"	"r.(?)"	"p.(=)"	""
"0000982754"	"00025756"	"30"	"818"	"0"	"818"	"0"	"c.818C>T"	"r.(?)"	"p.(Ala273Val)"	""
"0000982755"	"00025756"	"30"	"225"	"6"	"225"	"6"	"c.225+6C>A"	"r.(=)"	"p.(=)"	""
"0000982762"	"00025756"	"50"	"159"	"1085"	"159"	"1085"	"c.159+1085C>T"	"r.(=)"	"p.(=)"	""
"0000982763"	"00025756"	"50"	"159"	"1082"	"159"	"1082"	"c.159+1082A>G"	"r.(=)"	"p.(=)"	""
"0000982764"	"00025756"	"50"	"159"	"519"	"159"	"519"	"c.159+519C>T"	"r.(=)"	"p.(=)"	""
"0000982765"	"00025756"	"50"	"-1925"	"0"	"-1925"	"0"	"c.-1925C>T"	"r.(?)"	"p.(=)"	""
"0000982766"	"00025756"	"30"	"-1947"	"0"	"-1947"	"0"	"c.-1947T>C"	"r.(?)"	"p.(=)"	""
"0000982767"	"00025756"	"30"	"-3095"	"0"	"-3095"	"0"	"c.-3095G>A"	"r.(?)"	"p.(=)"	""
"0000982768"	"00025756"	"50"	"-3393"	"0"	"-3393"	"0"	"c.-3393C>G"	"r.(?)"	"p.(=)"	""
"0000982769"	"00025756"	"90"	"-5016"	"0"	"-5016"	"0"	"c.-5016C>T"	"r.(?)"	"p.(=)"	""
"0000982770"	"00025756"	"50"	"-5140"	"0"	"-5140"	"0"	"c.-5140G>A"	"r.(?)"	"p.(=)"	""
"0000982771"	"00025756"	"50"	"-5473"	"0"	"-5473"	"0"	"c.-5473G>A"	"r.(?)"	"p.(=)"	""
"0000982772"	"00025756"	"90"	"-5530"	"0"	"-5530"	"0"	"c.-5530G>A"	"r.(?)"	"p.(=)"	""
"0000982773"	"00025756"	"30"	"-5539"	"0"	"-5539"	"0"	"c.-5539C>T"	"r.(?)"	"p.(=)"	""
"0001003630"	"00025756"	"50"	"1822"	"6"	"1822"	"6"	"c.1822+6T>C"	"r.(=)"	"p.(=)"	""
"0001003631"	"00025756"	"30"	"1685"	"0"	"1685"	"0"	"c.1685C>T"	"r.(?)"	"p.(Ser562Leu)"	""
"0001003632"	"00025756"	"90"	"1054"	"0"	"1054"	"0"	"c.1054C>T"	"r.(?)"	"p.(Arg352Ter)"	""
"0001003633"	"00025756"	"30"	"799"	"0"	"799"	"0"	"c.799A>G"	"r.(?)"	"p.(Met267Val)"	""
"0001003634"	"00025756"	"30"	"661"	"0"	"661"	"0"	"c.661G>C"	"r.(?)"	"p.(Val221Leu)"	""
"0001027052"	"00025756"	"50"	"-5506"	"0"	"-5506"	"0"	"c.-5506C>T"	"r.(?)"	"p.(=)"	""
"0001042144"	"00025756"	"50"	"565"	"0"	"565"	"0"	"c.565C>G"	"r.(?)"	"p.(Leu189Val)"	""
"0001042149"	"00025756"	"50"	"-1331"	"0"	"-1331"	"0"	"c.-1331C>T"	"r.(?)"	"p.(=)"	""
"0001042150"	"00025756"	"30"	"-1348"	"0"	"-1348"	"0"	"c.-1348C>T"	"r.(?)"	"p.(=)"	""
"0001042151"	"00025756"	"70"	"-3354"	"0"	"-3354"	"0"	"c.-3354G>A"	"r.(?)"	"p.(=)"	""
"0001046668"	"00025756"	"30"	"-3301"	"0"	"-3301"	"0"	"c.-3301G>A"	"r.(?)"	"p.(=)"	""
"0001055798"	"00025756"	"70"	"1300"	"0"	"1300"	"0"	"c.1300C>T"	"r.(?)"	"p.(Gln434*)"	""
"0001055799"	"00025756"	"30"	"278"	"0"	"278"	"0"	"c.278A>T"	"r.(?)"	"p.(Tyr93Phe)"	""
"0001055800"	"00025756"	"50"	"159"	"520"	"159"	"520"	"c.159+520G>A"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 59
"{{screeningid}}"	"{{variantid}}"
"0000039630"	"0000067230"
"0000050345"	"0000079325"
"0000145242"	"0000236322"
"0000145255"	"0000236336"
"0000145256"	"0000236337"
"0000246998"	"0000499838"
"0000393277"	"0000824006"
"0000413573"	"0000871082"
"0000420205"	"0000880522"
"0000420206"	"0000880523"
"0000420207"	"0000880524"
"0000420208"	"0000880525"
"0000420209"	"0000880526"
"0000420210"	"0000880527"
"0000420211"	"0000880528"
"0000420212"	"0000880529"
"0000420213"	"0000880530"
"0000420214"	"0000880531"
"0000420215"	"0000880532"
"0000420216"	"0000880533"
"0000420217"	"0000880534"
"0000420218"	"0000880535"
"0000420219"	"0000880536"
"0000420220"	"0000880537"
"0000420221"	"0000880538"
"0000420222"	"0000880539"
"0000420223"	"0000880540"
"0000420224"	"0000880541"
"0000420225"	"0000880542"
"0000420226"	"0000880543"
"0000420228"	"0000880545"
"0000420229"	"0000880546"
"0000420230"	"0000880547"
"0000420231"	"0000880548"
"0000420232"	"0000880549"
"0000420233"	"0000880550"
"0000420234"	"0000880551"
"0000420235"	"0000880552"
"0000420236"	"0000880553"
"0000420237"	"0000880554"
"0000420238"	"0000880555"
"0000420239"	"0000880556"
"0000420240"	"0000880557"
"0000420241"	"0000880558"
"0000420242"	"0000880559"
"0000420243"	"0000880560"
"0000420245"	"0000880562"
"0000420246"	"0000880563"
"0000420247"	"0000880564"
"0000420248"	"0000880565"
"0000420250"	"0000880567"
"0000420251"	"0000880568"
"0000420252"	"0000880569"
"0000420253"	"0000880570"
"0000420254"	"0000880571"
"0000420255"	"0000880572"
"0000420256"	"0000880573"
"0000429143"	"0000908570"
"0000438158"	"0000933706"