### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DYRK1A)
# 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}}"
"DYRK1A"	"dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A"	"21"	"q22.13"	"unknown"	"NG_009366.1"	"UD_132118981025"	""	"http://www.LOVD.nl/DYRK1A"	""	"1"	"3091"	"1859"	"600855"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/DYRK1A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-01-22 05:25:11"	"00006"	"2026-01-03 11:51:56"


## 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}}"
"00025818"	"DYRK1A"	"transcript variant 6"	"000"	"NM_001347721.2"	""	"NP_001334650.1"	""	""	""	"-932"	"16092"	"2265"	"38739075"	"38898660"	"00006"	"2023-03-13 14:13:45"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{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"
"00344"	"EE"	"encephalopathy, epileptic (EE)"	""	""	""	""	""	"00006"	"2014-03-12 21:57:45"	"00006"	"2015-12-07 07:11:25"
"00815"	"MRD7"	"mental retardation, autosomal dominant, type 7 (MRD-7)"	"AD"	"614104"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05162"	"DD"	"developmental delay (DD)"	""	""	""	""	""	"00006"	"2016-05-10 21:15:54"	"00006"	"2020-05-25 13:52:33"
"05421"	"microcephaly"	"microcephaly"	""	""	""	""	""	"00006"	"2018-04-15 11:41:15"	""	""
"05521"	"seizures"	"seizures"	""	""	""	""	""	"00006"	"2018-11-18 17:02:13"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"DYRK1A"	"00139"
"DYRK1A"	"00815"


## Individuals ## Do not remove or alter this header ##
## Count = 55
"{{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}}"
"00050422"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050449"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050515"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050560"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050601"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00050638"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00057262"	""	""	""	"1"	""	"01494"	"{PMID:Rump 2016:26846091}"	""	"M"	"yes"	""	""	"0"	""	""	""	""
"00080988"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00143812"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00183667"	""	""	""	"1"	""	"00006"	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	""	""	"Spain"	""	"0"	""	""	""	"27620904-Pat12"
"00207794"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00265645"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00269526"	""	""	""	"1"	""	"03512"	"{PMID:Minardi 2020:32725632}"	""	"F"	""	"Romania"	""	"0"	""	""	""	""
"00292994"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292995"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292996"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292997"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00296762"	""	""	""	"1"	""	"00006"	"{PMID:Redin 2014:25167861}"	"analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"APN-58"
"00296763"	""	""	""	"1"	""	"00006"	"{PMID:Redin 2014:25167861}"	"analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"APN-87"
"00302988"	""	""	""	"1"	""	"00006"	"{PMID:Helbig 2016:26795593}"	""	""	""	"United States"	""	"0"	""	""	""	"Pat33"
"00314898"	""	""	""	"1"	""	"00006"	"{PMID:Zhu 2015:25590979}"	""	"M"	""	"United States"	""	"0"	""	""	""	"Trio84"
"00324474"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00379788"	""	""	""	"1"	""	"01807"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00381536"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"184171"
"00390083"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"184171"
"00416379"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	""	""	"0"	""	""	""	"194756"
"00416851"	""	""	""	"1"	""	"00000"	"{PMID:Rump 2016:26846091}"	""	"M"	""	""	""	"0"	""	""	""	"23"
"00419585"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"F"	""	"Greece"	""	"0"	""	""	""	"20010"
"00433660"	""	""	""	"1"	""	"03544"	""	""	""	""	""	""	""	""	""	""	""
"00435334"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"263288"
"00440355"	""	""	""	"1"	""	"00006"	"{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}"	""	"F"	""	"France"	""	"0"	""	""	""	"Pat39;PED1343.1"
"00440387"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED2740.1"
"00440398"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED3368.1"
"00448214"	""	""	""	"1"	""	"00006"	"{PMID:Poli 2024:38177409}"	""	"F"	""	"Chile"	""	"0"	""	""	""	"Pat113"
"00453460"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"303605"
"00460017"	""	""	""	"1"	""	"03544"	""	""	"M"	"-"	"- (not applicable)"	""	""	""	""	"white"	""
"00460018"	""	""	""	"1"	""	"00006"	"{PMID:van Bon 2011:21294719}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Netherlands"	""	"0"	""	""	""	"patient"
"00460019"	""	""	""	"1"	""	"00006"	"{PMID:Moller 2008:18405873}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat2"
"00460021"	""	""	""	"1"	""	"00006"	"{PMID:Moller 2008:18405873}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Denmark"	""	"0"	""	""	""	"Pat1"
"00460022"	""	""	""	"1"	""	"00006"	"{PMID:Courcet 2012:23099646}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"France"	""	"0"	""	""	""	"PatD12"
"00460023"	""	""	""	"1"	""	"00006"	"{PMID:Courcet 2012:23099646}"	""	""	""	"France"	""	"0"	""	""	""	"PatM66"
"00460024"	""	""	""	"1"	""	"00006"	"{PMID:Courcet 2012:23099646}"	""	""	""	"France"	""	"0"	""	""	""	"patients"
"00460025"	""	""	""	"1"	""	"00006"	"{PMID:Courcet 2012:23099646}"	""	""	""	"France"	""	"0"	""	""	""	"patients"
"00460026"	""	""	""	"1"	""	"00006"	"{PMID:Courcet 2012:23099646}"	""	""	""	"France"	""	"0"	""	""	""	"patients"
"00460027"	""	""	""	"1"	""	"00006"	"{PMID:Courcet 2012:23099646}"	""	""	""	"France"	""	"0"	""	""	""	"patients"
"00466171"	""	""	""	"1"	""	"03820"	""	""	"F"	""	"Brazil"	""	"0"	""	""	""	""
"00468831"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468832"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468833"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468834"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468835"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468836"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468837"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469037"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00471719"	""	""	""	"1"	""	"00006"	"{PMID:Anderson 2026:41468891}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 53
"{{individualid}}"	"{{diseaseid}}"
"00050422"	"00198"
"00050449"	"00198"
"00050515"	"00198"
"00050560"	"00198"
"00050601"	"00198"
"00050638"	"00198"
"00057262"	"00815"
"00080988"	"00815"
"00143812"	"00198"
"00183667"	"00139"
"00269526"	"00344"
"00292994"	"00198"
"00292995"	"00198"
"00292996"	"00198"
"00292997"	"00198"
"00296762"	"00139"
"00296763"	"00139"
"00302988"	"05521"
"00314898"	"00198"
"00324474"	"00198"
"00379788"	"00198"
"00381536"	"00815"
"00390083"	"00815"
"00416379"	"00815"
"00416851"	"00815"
"00419585"	"00198"
"00433660"	"00815"
"00435334"	"00815"
"00440355"	"05611"
"00440387"	"00198"
"00440398"	"00198"
"00448214"	"00198"
"00453460"	"00815"
"00460017"	"05162"
"00460018"	"00139"
"00460019"	"05421"
"00460021"	"05421"
"00460022"	"00139"
"00460023"	"00198"
"00460024"	"00139"
"00460025"	"00139"
"00460026"	"00139"
"00460027"	"00139"
"00466171"	"00198"
"00468831"	"00198"
"00468832"	"00198"
"00468833"	"00198"
"00468834"	"00198"
"00468835"	"00198"
"00468836"	"00198"
"00468837"	"00198"
"00469037"	"00198"
"00471719"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 00815, 05162, 05421, 05521, 05611
## Count = 46
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{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}}"
"0000037034"	"00198"	"00050422"	"00006"	"Isolated (sporadic)"	""	"intrauterine growth retardation, early cataracts, feeding difficulties in infancy, proportionate short stature, specific learning disability, microcephaly, abnormality of the frontal hairline, single transverse palmar crease, cerebellar atrophy, ventriculomegaly, abnormality of the skin"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037061"	"00198"	"00050449"	"00006"	"Isolated (sporadic)"	""	"microcephaly, delayed speech and language development, global developmental delay, intrauterine growth retardation, abnormality of the palmar creases, astigmatism, amblyopia, abnormality of the skeletal system, constipation, cleft soft palate"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037127"	"00198"	"00050515"	"00006"	"Isolated (sporadic)"	""	"smooth philtrum, short philtrum, small chin, abnormality of the lip, long tapered fingers, high pitched voice, long toe, hypertonia, microcephaly, autism"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037172"	"00198"	"00050560"	"00006"	"Isolated (sporadic)"	""	"seizures, global developmental delay, microcephaly"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037213"	"00198"	"00050601"	"00006"	"Isolated (sporadic)"	""	"plagiocephaly, microcephaly, seizures, generalized myoclonic seizures, deeply set eye, downslanted palpebral fissures, prominent nasal bridge, smooth philtrum, thin lips, wide mouth, widely spaced teeth, abnormality of the heart, global developmental delay, global developmental delay, abnormality of pyramidal motor function, seizures"	""	""	""	""	""	""	""	""	""	""	""	""
"0000037250"	"00198"	"00050638"	"00006"	"Isolated (sporadic)"	""	"microcephaly, brachycephaly, abnormality of the pulmonary valve, iris coloboma, micrognathia, eczema, constipation, short stature"	""	""	""	""	""	""	""	""	""	""	""	""
"0000044552"	"00815"	"00057262"	"01494"	"Familial, autosomal dominant"	""	"Microcephaly HP:0000252"	""	""	""	""	""	""	""	""	""	""	""	""
"0000060557"	"00815"	"00080988"	"01758"	"Isolated (sporadic)"	""	"Mental retardation, autosomal dominant 7 (OMIM:614104)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000116589"	"00198"	"00143812"	"01807"	"Unknown"	""	"HP:0001263 (Global developmental delay)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000144353"	"00139"	"00183667"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"MRD-7"	"intellectual disability"	""
"0000155577"	"00198"	"00207794"	"01164"	"Unknown"	""	"HP:0001263 (Global developmental delay)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000203432"	"00198"	"00265645"	"01164"	"Unknown"	""	"Hydrocele testis (HP:0000034); Inguinal hernia (HP:0000023); Microcephaly (HP:0000252); Lipoma (HP:0012032); Intellectual disability (HP:0001249)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000207357"	"00344"	"00269526"	"03512"	"Isolated (sporadic)"	""	"Epileptic Encephalopathy (HP:0200134)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000224161"	"00139"	"00296762"	"00006"	"Familial, autosomal dominant"	""	"moderate intellectual disability"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000224162"	"00139"	"00296763"	"00006"	"Familial, autosomal dominant"	""	"moderate intellectual disability"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000230071"	"05521"	"00302988"	"00006"	"Unknown"	""	"Fever related seizures; age onset childhood"	""	""	""	""	""	""	""	""	""	"MRD7"	"seizures"	""
"0000238656"	"00198"	"00314898"	"00006"	"Unknown"	"4y"	"Pierpont syndrome-like phenotype, absent speech, plantar fat pads, dysphagia, microcephaly, developmental delay, short stature, severe eczema."	"1d"	""	""	""	""	""	""	""	""	""	""	""
"0000243017"	"00198"	"00324474"	"01807"	"Unknown"	""	"Microcephaly (HP:0000252); Hypertonia (HP:0001276); Failure to thrive (HP:0001508); Patent ductus arteriosus (HP:0001643); Patent foramen ovale (HP:0001655); Short stature (HP:0004322)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000273643"	"00198"	"00379788"	"01807"	"Unknown"	""	"Macrocephaly (HP:0000256); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Joint hypermobility (HP:0001382); Prominent forehead (HP:0011220)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000275385"	"00815"	"00381536"	"01164"	"Isolated (sporadic)"	""	"Abnormal cry, High-pitched cry, Microcephaly, High palate, Thin vermilion border, Abnormal lip morphology, Retrognathia, Failure to thrive, Decreased body weight, Retinal dysplasia, Abnormal retinal morphology, Global developmental delay"	""	""	""	""	""	""	""	""	""	""	"01mo"	""
"0000283621"	"00815"	"00390083"	"01164"	"Familial, autosomal dominant"	""	"Abnormal cry, High-pitched cry, Microcephaly, High palate, Thin vermilion border, Abnormal lip morphology, Retrognathia, Failure to thrive, Decreased body weight, Retinal dysplasia, Abnormal retinal morphology, Global developmental delay"	""	""	""	""	""	""	""	""	""	""	""	""
"0000308144"	"00815"	"00416379"	"01164"	"Isolated (sporadic)"	""	"Neurodevelopmental delay, Delayed CNS myelination, Cataract, Microcephaly"	""	""	"01y"	""	""	""	""	""	""	""	""	""
"0000308361"	"00815"	"00416851"	"00000"	"Familial, autosomal dominant"	"2y"	"brain magnetic resonance imaging: wide peripheral liquor spaces; additional clinical featureslow birth weight, brachycephaly, hypertonia, severe developmental delay (consanguineous parents)"	""	""	""	""	""	""	""	""	""	"Autosomal dominant mental retardation 7 [MIM 614104]"	""	""
"0000310866"	"00198"	"00419585"	"02300"	"Isolated (sporadic)"	"6y"	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental abnormality"	""
"0000324083"	"00815"	"00433660"	"03544"	"Isolated (sporadic)"	""	"moderate intellectual disability"	""	""	""	""	""	""	""	""	""	""	""	""
"0000325531"	"00815"	"00435334"	"01164"	"Isolated (sporadic)"	"02y"	"Global developmental delay, Delayed speech and language development, Motor delay, Failure to thrive, Abnormal aortic arch morphology"	""	""	""	""	""	""	""	""	""	""	""	""
"0000330265"	"05611"	"00440355"	"00006"	"Isolated (sporadic)"	"34y"	"epilepsy"	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000330297"	"00198"	"00440387"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant mental retardation-7 (MIM #614104)"	""	""
"0000330308"	"00198"	"00440398"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Autosomal dominant mental retardation-7 (MIM #614104)"	""	""
"0000337424"	"00198"	"00448214"	"00006"	"Unknown"	"8y"	"intellectual disability; absent speech; autism spectrum disorder; short stature; sacral dimple; dysmorphic facial features"	""	""	""	""	""	""	""	""	""	""	"rare disorder"	""
"0000342124"	"00815"	"00453460"	"01164"	"Isolated (sporadic)"	"02y"	"Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Microcephaly, Neurodevelopmental delay, Motor delay, Delayed speech and language development"	""	""	""	""	""	""	""	""	""	""	""	""
"0000347743"	"05162"	"00460017"	"03544"	"Isolated (sporadic)"	""	"HP:0000023, HP:0000252, HP:0000277, HP:0000358, HP:0000954, HP:0001276, HP:0001508, HP:0001537, HP:0004322, HP:0007766, HP:0009118, HP:0009748, HP:0012758"	""	""	""	""	""	""	""	""	""	"MRD7"	"complex neurodevelopmental disorder"	""
"0000347744"	"00139"	"00460018"	"00006"	"Isolated (sporadic)"	"33y"	"see paper; ..., birth length 48cm (−2SD), weight 3195g (−1SD), OFC 33cm (<−2SD); severe intellectual disability; intra-uterine growth retardation; febrile seizures; limited spacial skills, no speech; primary microcephaly; slender posture; neonatal feeding problems; no periods hyperextension neck; bitemporal narrowing; large/simple ear, deep-set eyes, pointed nose, no micrognathia; breast aplasia; no scoliosis/kyphosis, no pectus excavatum; MRI brain mild atrophy, no structural changes; no inguinal hernia; no cardiac defect; no short distal phalanges"	""	""	""	""	""	""	""	""	""	"MRD7"	"intellectual disability"	""
"0000347745"	"05421"	"00460019"	"00006"	"Isolated (sporadic)"	"12y"	"see paper; ..., severe intellectual disability; intra-uterine growth retardation; febrile seizures; primary microcephaly; slender posture; neonatal feeding problems; periods hyperextension neck; no bitemporal narrowing; large/simple ear, no deep-set eyes, pointed nose, micrognathia; scoliosis/kyphosis/pectus excavatum; cardiac defect; short distal phalanges"	""	""	""	""	""	""	""	""	""	"MRD7"	"microcephaly"	""
"0000347747"	"05421"	"00460021"	"00006"	"Isolated (sporadic)"	"02y"	"see paper; ..., mild intellectual disability; intra-uterine growth retardation; febrile seizures; limited spacial skills, no speech; primary microcephaly; no slender posture; neonatal feeding problems; periods hyperextension neck; no bitemporal narrowing; large/simple ear, deep-set eyes, no pointed nose, micrognathia; no scoliosis/kyphosis, no pectus excavatum; MRI brain corpus callosum hypoplasia; inguinal hernia; no cardiac defect; no short distal phalanges"	""	""	""	""	""	""	""	""	""	"MRD7"	"microcephaly"	""
"0000347748"	"00139"	"00460022"	"00006"	"Isolated (sporadic)"	"14y"	"see paper; ..., intrauterine growth retardation; birth length -4SD, weight -2SD, OFC -4SD); 1m-feeding difficulties; gastro-oesophageal reflux; 18m-febrile seizures, myoclonic type; atonic seizures, 3y- tonic-clonic generalised seizures; episodes of vomiting, anorexia and dehydration; 14y- ID, severe microcephaly (length -2SD, weight -2SD, OFC -6SD), severe speech delay (few words), facial dysmorphism (thick lower lip, mild hypotelorism, hypoplastic ear lobes); evidence hand stereotypies"	""	""	""	""	""	""	""	""	""	"MRD7"	"syndromic intellectual disability"	""
"0000351557"	"00198"	"00466171"	"03820"	"Unknown"	""	"intellectual disability, microcephaly, congenital heart defect"	""	""	""	""	""	""	""	""	""	""	"intellectual disability, microcephaly"	""
"0000353984"	"00198"	"00468831"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000353985"	"00198"	"00468832"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""
"0000353986"	"00198"	"00468833"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000353987"	"00198"	"00468834"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""
"0000353988"	"00198"	"00468835"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""
"0000353989"	"00198"	"00468836"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""
"0000353990"	"00198"	"00468837"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"seizures"	""
"0000354190"	"00198"	"00469037"	"00006"	"Isolated (sporadic)"	""	"developmental delay, nystagmus, ptosis, hypotonia"	""	""	""	""	""	""	""	""	""	"CFEOM1;NF1;MRD7"	"multiple congenital anomalies"	""
"0000356528"	"05611"	"00471719"	"00006"	"Isolated (sporadic)"	"13y"	"see paper; ..., intrauterine growth restriction; birth 38w; neonatal neonatal jaundice, feeding difficulties; birth length 44cm (P1, -2.3 SD), weight 2480g (P8, -1.4 SD), OFC 31cm (P2, -2.0 SD); length 153cm (P19, -0.8 SD), weight 32.5kg (<P1, -3.0 SD), OFC 50cm (<P1, -3.5 SD); global developmental delay; delayed speech development; delayed motor development; mild intellectual disability; no developmental regression ; primary microcephaly; normal behavior; no autism; <18m-sit; 21m-walk; 12m-first words; 1y-generalized seizure; EEG unremarkable; MRI brain normal; normal coordination; normal muscle tone; triangular face, pointed chin; normal cranial morphology; feeding difficulties; divergent strabismus; no nystagmus; normal cardiovascular system; normal spine morphology; patient passed away at age 14 due to acute respiratory distress syndrome in the context of a complicated flu"	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 55
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050367"	"00050422"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050394"	"00050449"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050460"	"00050515"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050505"	"00050560"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050546"	"00050601"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050583"	"00050638"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000057223"	"00057262"	"1"	"01494"	"01494"	"2016-01-21 15:41:22"	"01494"	"2016-01-25 10:02:09"	"SEQ-NG-I"	"DNA"	"DNA isolated from Blood"	""
"0000081100"	"00080988"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000144671"	"00143812"	"0"	"01807"	"01807"	"2017-12-07 14:19:34"	""	""	"SEQ"	"DNA"	""	""
"0000184635"	"00183667"	"1"	"00006"	"00006"	"2018-10-27 10:06:27"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"1256 gene panel"
"0000208835"	"00207794"	"1"	"01164"	"01164"	"2018-11-30 14:41:29"	""	""	"SEQ-NG"	"DNA"	""	""
"0000266768"	"00265645"	"1"	"01164"	"01164"	"2019-09-30 10:07:47"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000270680"	"00269526"	"1"	"03512"	"03512"	"2019-11-29 11:05:57"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000294162"	"00292994"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294163"	"00292995"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294164"	"00292996"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294165"	"00292997"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297872"	"00296762"	"1"	"00006"	"00006"	"2020-04-13 12:27:32"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"217-gene ID panel"
"0000297873"	"00296763"	"1"	"00006"	"00006"	"2020-04-13 12:27:32"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"218-gene ID panel"
"0000304113"	"00302988"	"1"	"00006"	"00006"	"2020-06-05 14:08:27"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000316072"	"00314898"	"1"	"00006"	"00006"	"2020-10-20 15:09:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000325665"	"00324474"	"1"	"01807"	"01807"	"2020-12-14 13:37:02"	""	""	"SEQ"	"DNA"	""	""
"0000380991"	"00379788"	"1"	"01807"	"01807"	"2021-08-09 13:53:01"	""	""	"SEQ"	"DNA"	""	""
"0000382751"	"00381536"	"1"	"01164"	"01164"	"2021-08-31 14:37:22"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000391324"	"00390083"	"1"	"01164"	"01164"	"2021-11-10 08:37:24"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	"WES"
"0000417659"	"00416379"	"1"	"01164"	"01164"	"2022-08-29 11:29:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000418133"	"00416851"	"1"	"00000"	"03840"	"2022-09-08 10:25:47"	""	""	"arraySNP;SEQ-NG-I;SEQ"	"DNA"	""	""
"0000420889"	"00419585"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000435118"	"00433660"	"1"	"03544"	"03544"	"2023-03-12 19:30:27"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000436815"	"00435334"	"1"	"01164"	"01164"	"2023-07-10 17:55:19"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000441840"	"00440355"	"1"	"00006"	"00006"	"2023-11-02 11:20:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000441872"	"00440387"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000441883"	"00440398"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000449789"	"00448214"	"1"	"00006"	"00006"	"2024-02-22 17:47:06"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000455074"	"00453460"	"1"	"01164"	"01164"	"2024-09-02 16:27:59"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""
"0000461647"	"00460017"	"1"	"03544"	"03544"	"2025-01-17 09:34:25"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"
"0000461648"	"00460018"	"1"	"00006"	"00006"	"2025-01-17 13:12:05"	""	""	"arrayCGH"	"DNA"	""	""
"0000461649"	"00460019"	"1"	"00006"	"00006"	"2025-01-17 14:07:47"	""	""	"arrayCGH;FISH;microscope"	"DNA"	""	""
"0000461651"	"00460021"	"1"	"00006"	"00006"	"2025-01-17 15:29:26"	""	""	"arrayCGH;FISH;microscope"	"DNA"	""	""
"0000461652"	"00460022"	"1"	"00006"	"00006"	"2025-01-17 16:10:19"	""	""	"SEQ"	"DNA"	""	""
"0000461653"	"00460023"	"1"	"00006"	"00006"	"2025-01-17 16:14:20"	""	""	"SEQ"	"DNA"	""	""
"0000461654"	"00460024"	"1"	"00006"	"00006"	"2025-01-17 16:19:34"	""	""	"SEQ"	"DNA"	""	""
"0000461655"	"00460025"	"1"	"00006"	"00006"	"2025-01-17 16:19:34"	""	""	"SEQ"	"DNA"	""	""
"0000461656"	"00460026"	"1"	"00006"	"00006"	"2025-01-17 16:19:34"	""	""	"SEQ"	"DNA"	""	""
"0000461657"	"00460027"	"1"	"00006"	"00006"	"2025-01-17 16:19:34"	""	""	"SEQ"	"DNA"	""	""
"0000467829"	"00466171"	"1"	"03820"	"03820"	"2025-08-06 14:03:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000470499"	"00468831"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470500"	"00468832"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470501"	"00468833"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470502"	"00468834"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470503"	"00468835"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470504"	"00468836"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470505"	"00468837"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470705"	"00469037"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000473389"	"00471719"	"1"	"00006"	"00006"	"2026-01-03 11:36:42"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 25
"{{screeningid}}"	"{{geneid}}"
"0000050367"	"DYRK1A"
"0000050394"	"CHM"
"0000050394"	"DYRK1A"
"0000050460"	"DYRK1A"
"0000050505"	"DYRK1A"
"0000050546"	"DYRK1A"
"0000050583"	"DYRK1A"
"0000081100"	"DYRK1A"
"0000184635"	"DYRK1A"
"0000297872"	"DYRK1A"
"0000297873"	"DYRK1A"
"0000304113"	"DYRK1A"
"0000316072"	"DYRK1A"
"0000382751"	"DYRK1A"
"0000391324"	"DYRK1A"
"0000417659"	"DYRK1A"
"0000418133"	"DYRK1A"
"0000436815"	"DYRK1A"
"0000455074"	"DYRK1A"
"0000461652"	"DYRK1A"
"0000461653"	"DYRK1A"
"0000461654"	"DYRK1A"
"0000461655"	"DYRK1A"
"0000461656"	"DYRK1A"
"0000461657"	"DYRK1A"


## 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 = 82
"{{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}}"
"0000079347"	"0"	"90"	"21"	"38862672"	"38862672"	"subst"	"0"	"00006"	"DYRK1A_000001"	"g.38862672A>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37490370A>T"	""	"pathogenic"	""
"0000079440"	"0"	"90"	"21"	"38850535"	"38850535"	"delins"	"0"	"00006"	"DYRK1A_000003"	"g.38850538del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	"38850535 AC/A"	""	"De novo"	""	""	"0"	""	""	"g.37478236del"	""	"pathogenic"	""
"0000079485"	"0"	"90"	"21"	"38865403"	"38865403"	"subst"	"0"	"00006"	"DYRK1A_000002"	"g.38865403T>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37493101T>C"	""	"pathogenic"	""
"0000079526"	"0"	"90"	"21"	"38853005"	"38853006"	"dup"	"0"	"00006"	"DYRK1A_000004"	"g.38853005_38853006dup"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	"38853004-38853006 A/AGG"	""	"De novo"	""	""	"0"	""	""	"g.37480703_37480704dup"	""	"pathogenic"	""
"0000079563"	"0"	"90"	"21"	"38862503"	"38862503"	"subst"	"0"	"00006"	"DYRK1A_000006"	"g.38862503C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37490201C>T"	""	"pathogenic"	""
"0000079657"	"0"	"90"	"21"	"38858872"	"38858872"	"subst"	"0"	"00006"	"DYRK1A_000005"	"g.38858872T>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37486570T>C"	""	"pathogenic"	""
"0000087515"	"0"	"70"	"21"	"38877779"	"38877779"	"del"	"0"	"01494"	"DYRK1A_000007"	"g.38877779del"	"1/38 patients"	"{PMID:Rump 2016:26846091}"	""	""	""	"Unknown"	"no"	""	"0"	""	""	"g.37505476del"	""	"likely pathogenic"	""
"0000130186"	"0"	"70"	"21"	"38865407"	"38865407"	"subst"	"0"	"01758"	"DYRK1A_000008"	"g.38865407T>G"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37493105T>G"	""	"likely pathogenic"	"ACMG"
"0000235497"	"0"	"70"	"21"	"38853130"	"38853130"	"subst"	"0"	"01807"	"DYRK1A_000009"	"g.38853130T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.37480828T>A"	""	"likely pathogenic"	""
"0000408758"	"0"	"90"	"21"	"38858853"	"38858857"	"del"	"0"	"00006"	"DYRK1A_000040"	"g.38858853_38858857del"	""	"{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}"	""	"601_605delCAGAT"	""	"De novo"	""	""	"0"	""	""	"g.37486551_37486555del"	""	"pathogenic (dominant)"	""
"0000438818"	"0"	"50"	"21"	"38884443"	"38884443"	"subst"	"3.24884E-5"	"01164"	"DYRK1A_000041"	"g.38884443A>G"	""	""	""	""	""	"Germline"	""	"rs370090236"	"0"	""	""	"g.37512140A>G"	""	"VUS"	"ACMG"
"0000597585"	"0"	"70"	"21"	"38845162"	"38845162"	"subst"	"0"	"01164"	"DYRK1A_000048"	"g.38845162C>T"	""	""	""	""	"ACMG grading: PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.37472860C>T"	""	"likely pathogenic"	"ACMG"
"0000604466"	"0"	"70"	"21"	"38878524"	"38878524"	"del"	"0"	"03512"	"DYRK1A_000049"	"g.38878524del"	""	"{PMID:Minardi 2020:32725632}"	""	"1669delC"	""	"De novo"	""	""	"0"	""	""	"g.37506221del"	""	"pathogenic (dominant)"	""
"0000650851"	"1"	"90"	"21"	"38858865"	"38858865"	"subst"	"0"	"03575"	"DYRK1A_000057"	"g.38858865C>T"	"1/2786 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs724159949}"	"Germline"	""	"rs724159949"	"0"	""	""	"g.37486563C>T"	""	"pathogenic"	""
"0000650852"	"1"	"90"	"21"	"38877655"	"38877655"	"subst"	"0"	"03575"	"DYRK1A_000039"	"g.38877655C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs724159953}"	"Germline"	""	"rs724159953"	"0"	""	""	"g.37505352C>T"	""	"pathogenic"	""
"0000650853"	"1"	"90"	"21"	"38877745"	"38877745"	"subst"	"0"	"03575"	"DYRK1A_000026"	"g.38877745C>T"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs797044520}"	"Germline"	""	"rs797044520"	"0"	""	""	"g.37505442C>T"	""	"pathogenic"	""
"0000650854"	"1"	"70"	"21"	"38877746"	"38877746"	"subst"	"0"	"03575"	"DYRK1A_000058"	"g.38877746G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs797045041}"	"Germline"	""	"rs797045041"	"0"	""	""	"g.37505443G>A"	""	"likely pathogenic"	""
"0000660572"	"0"	"90"	"21"	"38858865"	"38858865"	"subst"	"0"	"00006"	"DYRK1A_000057"	"g.38858865C>T"	""	"{PMID:Redin 2014:25167861}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37486563C>T"	""	"pathogenic (dominant)"	""
"0000660573"	"0"	"90"	"21"	"38858873"	"38858873"	"del"	"0"	"00006"	"DYRK1A_000060"	"g.38858873del"	""	"{PMID:Redin 2014:25167861}"	""	""	"Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message."	"De novo"	""	""	"0"	""	""	"g.37486571del"	""	"pathogenic (dominant)"	""
"0000667511"	"1"	"90"	"21"	"38852961"	"38852961"	"subst"	"0"	"00006"	"DYRK1A_000033"	"g.38852961C>T"	""	"{PMID:Helbig 2016:26795593}"	""	""	"variant inherited (mosaic)"	"Germline"	""	""	"0"	""	""	"g.37480659C>T"	""	"pathogenic"	"ACMG"
"0000698198"	"1"	"70"	"21"	"38884512"	"38884516"	"del"	"0"	"00006"	"DYRK1A_000064"	"g.38884512_38884516del"	""	"{PMID:Zhu 2015:25590979}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37512209_37512213del"	""	"VUS"	""
"0000698225"	"2"	"70"	"21"	"38884519"	"38884529"	"del"	"0"	"00006"	"DYRK1A_000065"	"g.38884519_38884529del"	""	"{PMID:Zhu 2015:25590979}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37512216_37512226del"	""	"VUS"	""
"0000708800"	"0"	"70"	"21"	"38862765"	"38862765"	"subst"	"0"	"01807"	"DYRK1A_000066"	"g.38862765T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.37490463T>A"	""	"likely pathogenic"	""
"0000794252"	"0"	"90"	"21"	"38884312"	"38884312"	"dup"	"0"	"01807"	"DYRK1A_000068"	"g.38884312dup"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.37512009dup"	""	"pathogenic"	""
"0000796595"	"0"	"70"	"21"	"38862513"	"38862513"	"dup"	"0"	"01164"	"DYRK1A_000069"	"g.38862513dup"	""	""	""	""	"ACMG: PVS1, PM2_SUP"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.37490211dup"	""	"likely pathogenic (dominant)"	"ACMG"
"0000821073"	"0"	"70"	"21"	"38862513"	"38862513"	"dup"	"0"	"01164"	"DYRK1A_000069"	"g.38862513dup"	""	""	""	""	"ACMG: PVS1, PS2, PM2_SUP"	"De novo"	""	""	"0"	""	""	"g.37490211dup"	""	"pathogenic (!)"	"ACMG"
"0000855964"	"0"	"30"	"21"	"38865408"	"38865408"	"subst"	"0.000166553"	"01943"	"DYRK1A_000073"	"g.38865408C>T"	""	""	""	"DYRK1A(NM_001347721.2):c.1014C>T (p.L338=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866628"	"0"	"90"	"21"	"38845099"	"38845100"	"del"	"0"	"02329"	"DYRK1A_000072"	"g.38845099_38845100del"	""	""	""	"DYRK1A(NM_001347721.2):c.124_125delGA (p.D42Pfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000877378"	"0"	"70"	"21"	"38868435"	"38868454"	"del"	"0"	"01164"	"DYRK1A_000074"	"g.38868435_38868454del"	""	""	""	""	"ACMG: PVS1, PM2_SUP, PS2_SUP; confirmed de novo in trio-exome"	"De novo"	"-"	""	"0"	""	""	"g.37496133_37496152del"	""	"pathogenic (dominant)"	"ACMG"
"0000877876"	"0"	"70"	"21"	"38877779"	"38877779"	"del"	"0"	"00000"	"DYRK1A_000007"	"g.38877779del"	""	"{PMID:Rump 2016:26846091}"	""	"DYRK1A c.1433delT, p.F478Sfs*114"	"father not available, mother wild-type; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.37505476del"	""	"likely pathogenic"	""
"0000881248"	"0"	"90"	"21"	"38853072"	"38853078"	"del"	"0"	"02300"	"DYRK1A_000075"	"g.38853072_38853078del"	""	"{PMID:Marinakis 2021:34008892}"	""	"NM_001396.4:c.459_465delAAGTGG (Lys154Trp*9)"	"ACMG PVS1, PM2, PP3"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.37480770_37480776del"	""	"pathogenic (dominant)"	"ACMG"
"0000895475"	"0"	"50"	"21"	"38852962"	"38852962"	"subst"	"0"	"02327"	"DYRK1A_000076"	"g.38852962G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000915455"	"0"	"50"	"21"	"38877731"	"38877731"	"subst"	"0"	"02327"	"DYRK1A_000077"	"g.38877731A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000921055"	"0"	"90"	"21"	"38858818"	"38858818"	"dup"	"0"	"03544"	"DYRK1A_000078"	"g.38858818dup"	""	""	""	"NM_001347721.2:c.539dup"	""	"De novo"	""	""	"0"	""	""	"g.37486516dup"	""	"pathogenic"	"ACMG"
"0000927079"	"0"	"50"	"21"	"38884701"	"38884701"	"subst"	"0"	"02329"	"DYRK1A_000079"	"g.38884701A>G"	""	""	""	"DYRK1A(NM_001347721.2):c.2132A>G (p.Y711C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000931219"	"0"	"70"	"21"	"38852956"	"38852956"	"dup"	"0"	"02325"	"DYRK1A_000080"	"g.38852956dup"	""	""	""	"DYRK1A(NM_001396.5):c.344dupA (p.K116Efs*13)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000931220"	"0"	"30"	"21"	"38884713"	"38884713"	"subst"	"7.71624E-5"	"02325"	"DYRK1A_000081"	"g.38884713C>G"	""	""	""	"DYRK1A(NM_001396.5):c.2171C>G (p.A724G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000931481"	"0"	"70"	"21"	"38845145"	"38845145"	"subst"	"0"	"01164"	"DYRK1A_000082"	"g.38845145C>G"	""	""	""	""	"ACMG: PVS1, PS2_SUP, PM2_SUP"	"De novo"	"-"	""	""	""	""	"g.37472843C>G"	""	"pathogenic (dominant)"	"ACMG"
"0000939777"	"0"	"90"	"21"	"38884305"	"38884305"	"subst"	"0"	"00006"	"DYRK1A_000083"	"g.38884305C>A"	""	"{PMID:Thevenon 2016:26757139}, {PMID:Nambot 2018:29095811}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37512002C>A"	""	"likely pathogenic (dominant)"	""
"0000939814"	"0"	"70"	"21"	"38862767"	"38862770"	"del"	"0"	"00006"	"DYRK1A_000020"	"g.38862767_38862770del"	""	"{PMID:Nambot 2018:29095811}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37490465_37490468del"	""	"likely pathogenic (dominant)"	""
"0000939825"	"0"	"90"	"21"	"38862514"	"38862515"	"del"	"0"	"00006"	"DYRK1A_000084"	"g.38862514_38862515del"	""	"{PMID:Nambot 2018:29095811}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37490212_37490213del"	""	"pathogenic (dominant)"	""
"0000951505"	"0"	"50"	"21"	"38884572"	"38884572"	"subst"	"2.03064E-5"	"02325"	"DYRK1A_000085"	"g.38884572A>G"	""	""	""	"DYRK1A(NM_001396.5):c.2030A>G (p.N677S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000960272"	"0"	"70"	"21"	"38865342"	"38865343"	"ins"	"0"	"00006"	"DYRK1A_000086"	"g.38865342_38865343insGG"	""	"{PMID:Poli 2024:38177409}"	""	"NM_001347721:c.948_949insGG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.37493040_37493041insGG"	""	"likely pathogenic (dominant)"	""
"0000970300"	"0"	"30"	"21"	"38862623"	"38862623"	"subst"	"0"	"02327"	"DYRK1A_000087"	"g.38862623A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000970302"	"0"	"70"	"21"	"38884452"	"38884452"	"del"	"0"	"02327"	"DYRK1A_000088"	"g.38884452del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000983977"	"0"	"90"	"21"	"38850565"	"38850566"	"del"	"0"	"02325"	"DYRK1A_000089"	"g.38850565_38850566del"	""	""	""	"DYRK1A(NM_001396.5):c.290_291delCT (p.S97Cfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000983978"	"0"	"50"	"21"	"38853090"	"38853090"	"subst"	"0"	"01804"	"DYRK1A_000090"	"g.38853090G>A"	""	""	""	"DYRK1A(NM_001347721.2):c.451G>A (p.(Glu151Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000983979"	"0"	"30"	"21"	"38858763"	"38858763"	"subst"	"0"	"01804"	"DYRK1A_000091"	"g.38858763T>C"	""	""	""	"DYRK1A(NM_001347721.2):c.490-6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000987888"	"0"	"90"	"21"	"38853117"	"38853117"	"dup"	"0"	"03779"	"DYRK1A_000092"	"g.38853117dup"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001005729"	"0"	"50"	"21"	"38850482"	"38850482"	"subst"	"4.06921E-6"	"01804"	"DYRK1A_000093"	"g.38850482G>A"	""	""	""	"DYRK1A(NM_001396.3):c.208-1G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001005730"	"0"	"50"	"21"	"38877607"	"38877607"	"subst"	"8.14041E-6"	"01804"	"DYRK1A_000094"	"g.38877607C>T"	""	""	""	"DYRK1A(NM_001396.3):c.1261C>T (p.(Arg421Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001005731"	"0"	"30"	"21"	"38878542"	"38878542"	"subst"	"4.07279E-6"	"01804"	"DYRK1A_000095"	"g.38878542G>A"	""	""	""	"DYRK1A(NM_101395.2):c.1687G>A (p.(Val563Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001005732"	"0"	"50"	"21"	"38884427"	"38884427"	"subst"	"0"	"01804"	"DYRK1A_000096"	"g.38884427A>G"	""	""	""	"DYRK1A(NM_001396.3):c.1885A>G (p.(Arg629Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001007057"	"0"	"70"	"21"	"38877853"	"38877854"	"del"	"0"	"01164"	"DYRK1A_000097"	"g.38877853_38877854del"	""	""	""	""	"ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo"	"De novo"	"-"	""	"0"	""	""	"g.37505550_37505551del"	""	"pathogenic (dominant)"	"ACMG"
"0001020971"	"0"	"70"	"21"	"38868480"	"38868480"	"subst"	"0"	"03544"	"DYRK1A_000098"	"g.38868480C>T"	""	""	""	""	""	"Germline"	"yes"	"rs1555987107"	"0"	""	""	"g.37496178C>T"	"{CV:987458}"	"pathogenic"	"ACMG"
"0001020973"	"0"	"90"	"21"	"38874630"	"38927130"	"del"	"0"	"00006"	"DYRK1A_000099"	"g.(38868561_38874630)_(38927130_?)del"	""	"{PMID:van Bon 2011:21294719}"	""	"del 37796500–37849000 (hg18)"	"52kb deletion affected last three exons DYRK1A"	"De novo"	""	""	"0"	""	""	"g.(37496259_37502327)_(37554827_?)del"	""	"pathogenic (dominant)"	""
"0001020974"	"0"	"90"	"21"	"0"	"0"	""	""	"00006"	"DYRK1A_000100"	"g.(38856939_38858455)_qterdelins[NC_000002.11:g.(141541511_141571225)_qter]"	""	"{PMID:Moller 2008:18405873}"	""	"breakpoint in 37778809-37780325 (hg18)"	"breakpoint mapped to intron 39 LRP1B and intron 6 DYRK1A"	"De novo"	""	""	"0"	""	"46,XX,t(2;21)(q22;q22)"	"g.(37484637_37486153)_qterdelins[NC_000002.12:g.(140783942_140813656)_qter]"	""	"pathogenic (dominant)"	""
"0001020979"	"0"	"90"	"21"	"0"	"0"	""	""	"00006"	"DYRK1A_000101"	"g.(38747752_38782130)_qterdelins[NC_000009.11:g.pter_(45569325_45735555)inv]"	""	"{PMID:Moller 2008:18405873}"	""	"break point 37,669,622–37,704,000 (hg18)"	""	"De novo"	""	""	"0"	""	"46,XY,t(9;21)(p12;q22)"	"g.(37375450_37409828)_qterdelins[NC_000009.12:g.pter_(41483782_41650012)inv]"	""	"pathogenic (dominant)"	""
"0001020980"	"0"	"90"	"21"	"38850565"	"38850566"	"del"	"0"	"00006"	"DYRK1A_000089"	"g.38850565_38850566del"	""	"{PMID:Courcet 2012:23099646}"	""	"NM_001396.3:c.290_291delCT"	""	"De novo"	""	""	"0"	""	""	"g.37478263_37478264del"	""	"pathogenic (dominant)"	""
"0001020981"	"0"	"30"	"21"	"38850470"	"38850470"	"subst"	"0.00322142"	"00006"	"DYRK1A_000012"	"g.38850470C>G"	""	"{PMID:Courcet 2012:23099646}"	""	"NM_001396.5:c.208-13C>G"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.37478168C>G"	""	"likely benign"	""
"0001020982"	"0"	"10"	"21"	"38850640"	"38850640"	"subst"	"0.865419"	"00006"	"DYRK1A_000102"	"g.38850640G>A"	"92/105 cases"	"{PMID:Courcet 2012:23099646}"	""	""	""	"Germline"	""	"rs928763"	"0"	""	""	"g.37478338G>A"	""	"benign"	""
"0001020983"	"0"	"10"	"21"	"38858938"	"38858938"	"subst"	"0.237976"	"00006"	"DYRK1A_000103"	"g.38858938G>A"	"32/105 cases"	"{PMID:Courcet 2012:23099646}"	""	""	""	"Germline"	""	"rs55650427"	"0"	""	""	"g.37486636G>A"	""	"benign"	""
"0001020984"	"0"	"10"	"21"	"38865507"	"38865507"	"subst"	"0.311032"	"00006"	"DYRK1A_000104"	"g.38865507C>G"	"48/105 cases"	"{PMID:Courcet 2012:23099646}"	""	""	""	"Germline"	""	"rs2835772"	"0"	""	""	"g.37493205C>G"	""	"benign"	""
"0001020985"	"0"	"10"	"21"	"38877762"	"38877762"	"subst"	"0.00754481"	"00006"	"DYRK1A_000027"	"g.38877762T>C"	"1/105 cases"	"{PMID:Courcet 2012:23099646}"	""	""	""	"Germline"	""	"rs55854596"	"0"	""	""	"g.37505459T>C"	""	"benign"	""
"0001043577"	"0"	"90"	"21"	"38853089"	"38853089"	"subst"	"0"	"02325"	"DYRK1A_000105"	"g.38853089C>G"	""	""	""	"DYRK1A(NM_001396.5):c.477C>G (p.Y159*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001043578"	"0"	"30"	"21"	"38862913"	"38862913"	"subst"	"0"	"01804"	"DYRK1A_000106"	"g.38862913G>C"	""	""	""	"DYRK1A(NM_001347721.2):c.924+150G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001043579"	"0"	"50"	"21"	"38865398"	"38865398"	"subst"	"1.21857E-5"	"01804"	"DYRK1A_000107"	"g.38865398T>C"	""	""	""	"DYRK1A(NM_001347721.2):c.1004T>C (p.(Met335Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001043581"	"0"	"30"	"21"	"38879505"	"38879505"	"subst"	"0"	"01804"	"DYRK1A_000108"	"g.38879505C>T"	""	""	""	"DYRK1A(NM_001347721.2):c.1644+979C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001046795"	"0"	"50"	"21"	"38877633"	"38877635"	"dup"	"0"	"02325"	"DYRK1A_000109"	"g.38877633_38877635dup"	""	""	""	"DYRK1A(NM_001396.5):c.1287_1289dupGGA (p.E430dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001047163"	"0"	"70"	"21"	"38862767"	"38862770"	"del"	"0"	"03820"	"DYRK1A_000020"	"g.38862767_38862770del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.37490465_37490468del"	""	"likely pathogenic"	"ACMG"
"0001057008"	"0"	"50"	"21"	"38862516"	"38862516"	"subst"	"0"	"01804"	"DYRK1A_000110"	"g.38862516G>T"	""	""	""	"DYRK1A(NM_001347721.2):c.677G>T (p.(Cys226Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001057009"	"0"	"70"	"21"	"38862534"	"38862534"	"subst"	"0"	"01804"	"DYRK1A_000111"	"g.38862534T>C"	""	""	""	"DYRK1A(NM_001347721.2):c.695T>C (p.(Leu232Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001057010"	"0"	"50"	"21"	"38890501"	"38890501"	"subst"	"0"	"01804"	"DYRK1A_000112"	"g.38890501G>A"	""	""	""	"DYRK1A(NM_001347721.2):c.*5667G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001058621"	"0"	"90"	"21"	"38862549"	"38862550"	"del"	"0"	"00006"	"DYRK1A_000116"	"g.38862549_38862550del"	""	"{PMID:Retterer 2016:26633542}"	""	"NM_101395.2:c.737_738delAT"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.37490247_37490248del"	""	"pathogenic"	""
"0001058622"	"0"	"90"	"21"	"38868422"	"38868425"	"del"	"0"	"00006"	"DYRK1A_000117"	"g.38868422_38868425del"	""	"{PMID:Retterer 2016:26633542}"	""	"NM_101395.2:c.1101_1104delAGAT"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.37496120_37496123del"	""	"pathogenic"	""
"0001058623"	"0"	"90"	"21"	"38868546"	"38868546"	"subst"	"0"	"00006"	"DYRK1A_000118"	"g.38868546A>T"	""	"{PMID:Retterer 2016:26633542}"	""	"NM_101395.2:c.1225A>T"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.37496244A>T"	""	"pathogenic"	""
"0001058624"	"0"	"90"	"21"	"37480787"	"37480787"	"subst"	"0"	"00006"	"DYRK1A_000105"	"g.37480787C>G"	""	"{PMID:Retterer 2016:26633542}"	""	"NM_101395.2:c.477C>G"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.38853089C>G"	""	"pathogenic"	""
"0001058625"	"0"	"90"	"21"	"38862476"	"38862476"	"subst"	"0"	"00006"	"DYRK1A_000115"	"g.38862476G>T"	""	"{PMID:Retterer 2016:26633542}"	""	"NM_101395.2:c.665-1G>T"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.37490174G>T"	""	"pathogenic"	""
"0001058626"	"0"	"90"	"21"	"38862767"	"38862770"	"del"	"0"	"00006"	"DYRK1A_000020"	"g.38862767_38862770del"	""	"{PMID:Retterer 2016:26633542}"	""	"NM_101395.2:c.951+4_951+7delAGTA"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.37490465_37490468del"	""	"pathogenic"	""
"0001058627"	"0"	"70"	"21"	"38862468"	"38862472"	"del"	"0"	"00006"	"DYRK1A_000114"	"g.38862468_38862472del"	""	"{PMID:Retterer 2016:26633542}"	""	"NM_101395.2:c.665-9_665-5delCTCTT"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.37490166_37490170del"	""	"likely pathogenic"	""
"0001059322"	"0"	"70"	"21"	"38877897"	"38877897"	"subst"	"0"	"00006"	"DYRK1A_000113"	"g.38877897G>T"	""	"{PMID:Retterer 2016:26633542}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37505594G>T"	""	"VUS"	""
"0001062260"	"0"	"50"	"21"	"38884834"	"38884835"	"del"	"0"	"00006"	"DYRK1A_000119"	"g.38884834_38884835del"	""	"{PMID:Anderson 2026:41468891}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.37512531_37512532del"	""	"VUS"	"ACMG"


## 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 DYRK1A
## Count = 82
"{{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}}"
"0000079347"	"00025818"	"90"	"833"	"0"	"833"	"0"	"c.833A>T"	"r.(?)"	"p.(Asp278Val)"	""
"0000079440"	"00025818"	"90"	"236"	"0"	"236"	"0"	"c.236del"	"r.(?)"	"p.(Pro79GlnfsTer6)"	""
"0000079485"	"00025818"	"90"	"1009"	"0"	"1009"	"0"	"c.1009T>C"	"r.(?)"	"p.(Ser337Pro)"	""
"0000079526"	"00025818"	"90"	"366"	"0"	"367"	"0"	"c.366_367dup"	"r.(?)"	"p.(Glu123GlyfsTer19)"	""
"0000079563"	"00025818"	"90"	"664"	"0"	"664"	"0"	"c.664C>T"	"r.(?)"	"p.(Arg222Ter)"	""
"0000079657"	"00025818"	"90"	"593"	"0"	"593"	"0"	"c.593T>C"	"r.(?)"	"p.(Leu198Pro)"	""
"0000087515"	"00025818"	"70"	"1406"	"0"	"1406"	"0"	"c.1406del"	"r.(?)"	"p.(Phe469SerfsTer114)"	""
"0000130186"	"00025818"	"70"	"1013"	"0"	"1013"	"0"	"c.1013T>G"	"r.(?)"	"p.(Leu338Arg)"	""
"0000235497"	"00025818"	"70"	"489"	"2"	"489"	"2"	"c.489+2T>A"	"r.spl"	"p.?"	""
"0000408758"	"00025818"	"90"	"574"	"0"	"578"	"0"	"c.574_578del"	"r.(?)"	"p.(Gln192ArgfsTer6)"	""
"0000438818"	"00025818"	"50"	"1874"	"0"	"1874"	"0"	"c.1874A>G"	"r.(?)"	"p.(Asn625Ser)"	""
"0000597585"	"00025818"	"70"	"187"	"0"	"187"	"0"	"c.187C>T"	"r.(?)"	"p.(Gln63Ter)"	""
"0000604466"	"00025818"	"70"	"1642"	"0"	"1642"	"0"	"c.1642del"	"r.(?)"	"p.(Gln548ArgfsTer35)"	""
"0000650851"	"00025818"	"90"	"586"	"0"	"586"	"0"	"c.586C>T"	"r.(?)"	"p.(Arg196Ter)"	""
"0000650852"	"00025818"	"90"	"1282"	"0"	"1282"	"0"	"c.1282C>T"	"r.(?)"	"p.(Arg428Ter)"	""
"0000650853"	"00025818"	"90"	"1372"	"0"	"1372"	"0"	"c.1372C>T"	"r.(?)"	"p.(Arg458Ter)"	""
"0000650854"	"00025818"	"70"	"1373"	"0"	"1373"	"0"	"c.1373G>A"	"r.(?)"	"p.(Arg458Gln)"	""
"0000660572"	"00025818"	"90"	"586"	"0"	"586"	"0"	"c.586C>T"	"r.(?)"	"p.(Arg196Ter)"	""
"0000660573"	"00025818"	"90"	"594"	"0"	"594"	"0"	"c.594del"	"r.(?)"	"p.(Glu199SerfsTer3)"	""
"0000667511"	"00025818"	"90"	"322"	"0"	"322"	"0"	"c.322C>T"	"r.(?)"	"p.(Arg108Ter)"	""
"0000698198"	"00025818"	"70"	"1943"	"0"	"1947"	"0"	"c.1943_1947del"	"r.(?)"	"p.(Ser648PhefsTer16)"	""
"0000698225"	"00025818"	"70"	"1950"	"0"	"1960"	"0"	"c.1950_1960del"	"r.(?)"	"p.(Ser651PhefsTer11)"	""
"0000708800"	"00025818"	"70"	"924"	"2"	"924"	"2"	"c.924+2T>A"	"r.spl"	"p.?"	""
"0000794252"	"00025818"	"90"	"1743"	"0"	"1743"	"0"	"c.1743dup"	"r.(?)"	"p.(Val582CysfsTer14)"	""
"0000796595"	"00025818"	"70"	"674"	"0"	"674"	"0"	"c.674dup"	"r.(?)"	"p.(Cys226LeufsTer5)"	""
"0000821073"	"00025818"	"70"	"674"	"0"	"674"	"0"	"c.674dup"	"r.(?)"	"p.(Cys226LeufsTer5)"	""
"0000855964"	"00025818"	"30"	"1014"	"0"	"1014"	"0"	"c.1014C>T"	"r.(?)"	"p.(Leu338=)"	""
"0000866628"	"00025818"	"90"	"124"	"0"	"125"	"0"	"c.124_125del"	"r.(?)"	"p.(Asp42Profs*8)"	""
"0000877378"	"00025818"	"70"	"1087"	"0"	"1106"	"0"	"c.1087_1106del"	"r.(?)"	"p.(Lys363TyrfsTer8)"	""
"0000877876"	"00025818"	"70"	"1406"	"0"	"1406"	"0"	"c.1406del"	"r.(?)"	"p.(Phe469SerfsTer114)"	""
"0000881248"	"00025818"	"90"	"433"	"0"	"439"	"0"	"c.433_439del"	"r.(?)"	"p.(Lys145TrpfsTer9)"	""
"0000895475"	"00025818"	"50"	"323"	"0"	"323"	"0"	"c.323G>A"	"r.(?)"	"p.(Arg108Gln)"	""
"0000915455"	"00025818"	"50"	"1358"	"0"	"1358"	"0"	"c.1358A>G"	"r.(?)"	"p.(Tyr453Cys)"	""
"0000921055"	"00025818"	"90"	"539"	"0"	"539"	"0"	"c.539dup"	"r.(?)"	"p.(Ile181AsnfsTer19)"	""
"0000927079"	"00025818"	"50"	"2132"	"0"	"2132"	"0"	"c.2132A>G"	"r.(?)"	"p.(Tyr711Cys)"	""
"0000931219"	"00025818"	"70"	"317"	"0"	"317"	"0"	"c.317dup"	"r.(?)"	"p.(Lys107Glufs*13)"	""
"0000931220"	"00025818"	"30"	"2144"	"0"	"2144"	"0"	"c.2144C>G"	"r.(?)"	"p.(Ala715Gly)"	""
"0000931481"	"00025818"	"70"	"170"	"0"	"170"	"0"	"c.170C>G"	"r.(?)"	"p.(Ser57*)"	""
"0000939777"	"00025818"	"90"	"1736"	"0"	"1736"	"0"	"c.1736C>A"	"r.(?)"	"p.(Thr579Asn)"	""
"0000939814"	"00025818"	"70"	"924"	"4"	"924"	"7"	"c.924+4_924+7del"	"r.spl"	"p.?"	""
"0000939825"	"00025818"	"90"	"675"	"0"	"676"	"0"	"c.675_676del"	"r.(?)"	"p.(Cys226PhefsTer4)"	""
"0000951505"	"00025818"	"50"	"2003"	"0"	"2003"	"0"	"c.2003A>G"	"r.(?)"	"p.(Asn668Ser)"	""
"0000960272"	"00025818"	"70"	"948"	"0"	"949"	"0"	"c.948_949insGG"	"r.(?)"	"p.(Phe317GlyfsTer43)"	""
"0000970300"	"00025818"	"30"	"784"	"0"	"784"	"0"	"c.784A>G"	"r.(?)"	"p.(Thr262Ala)"	""
"0000970302"	"00025818"	"70"	"1883"	"0"	"1883"	"0"	"c.1883del"	"r.(?)"	"p.(Thr628Argfs*19)"	""
"0000983977"	"00025818"	"90"	"263"	"0"	"264"	"0"	"c.263_264del"	"r.(?)"	"p.(Ser88Cysfs*2)"	""
"0000983978"	"00025818"	"50"	"451"	"0"	"451"	"0"	"c.451G>A"	"r.(?)"	"p.(Glu151Lys)"	""
"0000983979"	"00025818"	"30"	"490"	"-6"	"490"	"-6"	"c.490-6T>C"	"r.(=)"	"p.(=)"	""
"0000987888"	"00025818"	"90"	"478"	"0"	"478"	"0"	"c.478dup"	"r.(?)"	"p.(Ser160PhefsTer10)"	""
"0001005729"	"00025818"	"50"	"208"	"-28"	"208"	"-28"	"c.208-28G>A"	"r.(=)"	"p.(=)"	""
"0001005730"	"00025818"	"50"	"1234"	"0"	"1234"	"0"	"c.1234C>T"	"r.(?)"	"p.(Arg412Cys)"	""
"0001005731"	"00025818"	"30"	"1644"	"16"	"1644"	"16"	"c.1644+16G>A"	"r.(=)"	"p.(=)"	""
"0001005732"	"00025818"	"50"	"1858"	"0"	"1858"	"0"	"c.1858A>G"	"r.(?)"	"p.(Arg620Gly)"	""
"0001007057"	"00025818"	"70"	"1480"	"0"	"1481"	"0"	"c.1480_1481del"	"r.?"	"p.(Gln494Valfs*69)"	"10"
"0001020971"	"00025818"	"70"	"1132"	"0"	"1132"	"0"	"c.1132C>T"	"r.(?)"	"p.(Gln378*)"	"9"
"0001020973"	"00025818"	"90"	"1213"	"-2956"	"44561"	"0"	"c.(1212+1_1213-2956)_(*42296_?)del"	"r.?"	"p.?"	"9i_12_"
"0001020974"	"00025818"	"90"	"490"	"-314"	"5110"	"0"	"c.(490-1830_490-314)_*2845delins[NC_000002.11:g.(141541511_141571225)_qter]"	"r.?"	"p.?"	""
"0001020979"	"00025818"	"90"	"-77"	"7822"	"-76"	"-10471"	"c.(-77+7822_-76-10471del)delins[NC_000009.11:g.pter_(45569325_45735555)inv]"	"r.?"	"p.?"	""
"0001020980"	"00025818"	"90"	"263"	"0"	"264"	"0"	"c.263_264del"	"r.(?)"	"p.(Ser88CysfsTer2)"	""
"0001020981"	"00025818"	"30"	"208"	"-40"	"208"	"-40"	"c.208-40C>G"	"r.(?)"	"p.(=)"	""
"0001020982"	"00025818"	"10"	"300"	"38"	"300"	"38"	"c.300+38G>A"	"r.(?)"	"p.(=)"	""
"0001020983"	"00025818"	"10"	"637"	"22"	"637"	"22"	"c.637+22G>A"	"r.(?)"	"p.(=)"	""
"0001020984"	"00025818"	"10"	"1071"	"42"	"1071"	"42"	"c.1071+42C>G"	"r.(?)"	"p.(=)"	""
"0001020985"	"00025818"	"10"	"1389"	"0"	"1389"	"0"	"c.1389T>C"	"r.(?)"	"p.(Tyr463=)"	""
"0001043577"	"00025818"	"90"	"450"	"0"	"450"	"0"	"c.450C>G"	"r.(?)"	"p.(Tyr150*)"	""
"0001043578"	"00025818"	"30"	"924"	"150"	"924"	"150"	"c.924+150G>C"	"r.(=)"	"p.(=)"	""
"0001043579"	"00025818"	"50"	"1004"	"0"	"1004"	"0"	"c.1004T>C"	"r.(?)"	"p.(Met335Thr)"	""
"0001043581"	"00025818"	"30"	"1644"	"979"	"1644"	"979"	"c.1644+979C>T"	"r.(=)"	"p.(=)"	""
"0001046795"	"00025818"	"50"	"1260"	"0"	"1262"	"0"	"c.1260_1262dup"	"r.(?)"	"p.(Glu421dup)"	""
"0001047163"	"00025818"	"70"	"924"	"4"	"924"	"7"	"c.924+4_924+7del"	"r.spl"	"p.?"	""
"0001057008"	"00025818"	"50"	"677"	"0"	"677"	"0"	"c.677G>T"	"r.(?)"	"p.(Cys226Phe)"	""
"0001057009"	"00025818"	"70"	"695"	"0"	"695"	"0"	"c.695T>C"	"r.(?)"	"p.(Leu232Pro)"	""
"0001057010"	"00025818"	"50"	"7932"	"0"	"7932"	"0"	"c.*5667G>A"	"r.(=)"	"p.(=)"	""
"0001058621"	"00025818"	"90"	"710"	"0"	"711"	"0"	"c.710_711del"	"r.(?)"	"p.(Tyr237Ter)"	""
"0001058622"	"00025818"	"90"	"1074"	"0"	"1077"	"0"	"c.1074_1077del"	"r.(?)"	"p.(Asp359ArgfsTer2)"	""
"0001058623"	"00025818"	"90"	"1198"	"0"	"1198"	"0"	"c.1198A>T"	"r.(?)"	"p.(Lys400Ter)"	""
"0001058624"	"00025818"	"90"	"450"	"0"	"450"	"0"	"c.450C>G"	"r.(?)"	"p.(Tyr150Ter)"	""
"0001058625"	"00025818"	"90"	"638"	"-1"	"638"	"-1"	"c.638-1G>T"	"r.spl"	"p.?"	""
"0001058626"	"00025818"	"90"	"924"	"4"	"924"	"7"	"c.924+4_924+7del"	"r.spl"	"p.?"	""
"0001058627"	"00025818"	"70"	"638"	"-9"	"638"	"-5"	"c.638-9_638-5del"	"r.spl"	"p.?"	""
"0001059322"	"00025818"	"70"	"1519"	"5"	"1519"	"5"	"c.1519+5G>T"	"r.spl?"	"p.(?)"	""
"0001062260"	"00025818"	"50"	"2265"	"0"	"2266"	"0"	"c.2265_*1del"	"r.(?)"	"p.(Ter755CysextTer13)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 56
"{{screeningid}}"	"{{variantid}}"
"0000050367"	"0000079347"
"0000050394"	"0000079657"
"0000050460"	"0000079440"
"0000050505"	"0000079485"
"0000050546"	"0000079526"
"0000050583"	"0000079563"
"0000057223"	"0000087515"
"0000081100"	"0000130186"
"0000144671"	"0000235497"
"0000184635"	"0000408758"
"0000208835"	"0000438818"
"0000266768"	"0000597585"
"0000270680"	"0000604466"
"0000294162"	"0000650851"
"0000294163"	"0000650852"
"0000294164"	"0000650853"
"0000294165"	"0000650854"
"0000297872"	"0000660572"
"0000297873"	"0000660573"
"0000304113"	"0000667511"
"0000316072"	"0000698198"
"0000316072"	"0000698225"
"0000325665"	"0000708800"
"0000380991"	"0000794252"
"0000382751"	"0000796595"
"0000391324"	"0000821073"
"0000417659"	"0000877378"
"0000418133"	"0000877876"
"0000420889"	"0000881248"
"0000435118"	"0000921055"
"0000436815"	"0000931481"
"0000441840"	"0000939777"
"0000441872"	"0000939814"
"0000441883"	"0000939825"
"0000449789"	"0000960272"
"0000455074"	"0001007057"
"0000461647"	"0001020971"
"0000461648"	"0001020973"
"0000461649"	"0001020974"
"0000461651"	"0001020979"
"0000461652"	"0001020980"
"0000461653"	"0001020981"
"0000461654"	"0001020982"
"0000461655"	"0001020983"
"0000461656"	"0001020984"
"0000461657"	"0001020985"
"0000467829"	"0001047163"
"0000470499"	"0001058621"
"0000470500"	"0001058622"
"0000470501"	"0001058623"
"0000470502"	"0001058624"
"0000470503"	"0001058625"
"0000470504"	"0001058626"
"0000470505"	"0001058627"
"0000470705"	"0001059322"
"0000473389"	"0001062260"