### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KDM6B)
# 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}}"
"KDM6B"	"lysine (K)-specific demethylase 6B"	"17"	"p13.1"	"unknown"	"NC_000017.10"	"UD_132438809151"	""	"https://www.LOVD.nl/KDM6B"	""	"1"	"29012"	"23135"	"611577"	"1"	"1"	"1"	"1"	"MAINE transcript NM_001348716.2\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2023-08-03 13:44:07"	"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}}"
"00010464"	"KDM6B"	"lysine (K)-specific demethylase 6B"	"001"	"NM_001080424.1"	""	"NP_001073893.1"	""	""	""	"-376"	"6328"	"5049"	"7743235"	"7758118"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"05339"	"CHTD"	"disease, heart, congenital (CHTD)"	""	""	""	""	""	"00006"	"2017-11-05 11:35:27"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"06379"	"NEDCFSA"	"Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities"	"AD"	"618505"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"KDM6B"	"05611"
"KDM6B"	"06379"


## Individuals ## Do not remove or alter this header ##
## Count = 115
"{{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}}"
"00301662"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00301664"	""	""	""	"1"	""	"01807"	""	""	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00309666"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00311940"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311941"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311942"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311943"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311944"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311945"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311946"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311947"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311948"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311949"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00311950"	""	""	""	"1"	""	"00006"	"{PMID:Faundes 2018:29276005}"	""	""	""	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00385451"	""	""	""	"1"	""	"00006"	"{PMID:Ackerman 2016:27452334}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	"no"	"United States"	""	"0"	""	""	""	"patient"
"00397651"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	"(Saudi Arabia)"	""	"0"	""	""	""	"189768"
"00433507"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"241192"
"00435169"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat1"
"00435170"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"France"	""	"0"	""	""	""	"Pat2"
"00435171"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat3"
"00435172"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat4"
"00435173"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat5"
"00435174"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00435175"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat7"
"00435176"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat8"
"00435177"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00435178"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat10"
"00435179"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat11"
"00435180"	""	""	""	"1"	""	"00006"	"{PMID:Stolerman 2019:31124279}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat12"
"00435486"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, family, has affected mother with dysmorphic features similar to the daugther; sister 10y-ADHD, PDD, NOS, TIQ=88 with learning and behavioural problems; father previously had poor social skills"	"F"	""	""	""	"0"	""	""	""	"Pat1"
"00435487"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, has father with learning problems and dysmorphism (prominent forehead, amandel shaped eyes, synophrys, finger clubbing) and previous hip problems; fathers sister and mother have learning problems; brother 7y-ASD, normal IQ"	"F"	""	""	""	"0"	""	""	""	"Pat2"
"00435488"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, 1 affected (beta-thalasemia carrier), unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat3"
"00435489"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat5"
"00435490"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat6"
"00435491"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat7"
"00435492"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat8"
"00435493"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00435494"	""	""	""	"2"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, affected adoptedhalf-brother/half-brother, mother with psychiatric problems not available for testing"	"F"	""	""	""	"0"	""	""	""	"Pat11"
"00435495"	""	""	"00435494"	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"half-brother, adopted"	"M"	""	""	""	"0"	""	""	""	"Pat12"
"00435496"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat13"
"00435497"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat15"
"00435498"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier mother, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat16"
"00435499"	""	""	""	"1"	""	"00006"	"{PMID:Bramswig 2017:28393272}, {PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat1;Pat17"
"00435500"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, affected heterozygous carrier mother and sister"	"M"	""	""	""	"0"	""	""	""	"Pat18"
"00435501"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat19"
"00435502"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat20"
"00435503"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat21"
"00435504"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat22"
"00435505"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat23"
"00435506"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, brother 5y-macrocephaly, speech apraxia, fine motor delay; brother 11y-speech delay (has not KDM6B variant)"	"F"	""	""	""	"0"	""	""	""	"Pat24"
"00435507"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	""	"F"	""	""	""	"0"	""	""	""	"Pat25"
"00435508"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat26"
"00435509"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, older brother with ASD"	"M"	""	""	""	"0"	""	""	""	"Pat27"
"00435510"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat28"
"00435511"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat29"
"00435512"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, has half brother ID; mother intellectual disability, epilepsy, diabetes, bipolar disorder; full brother, ID, aggressive behavior"	"F"	""	""	""	"0"	""	""	""	"Pat31"
"00435513"	""	""	""	"2"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, heterozygous carrier father history of dyslexia, similarities to patient with respect to anxiety and behavioral rigidity; mother history of bicuspid aortic valve, aortic stenosis"	"M"	""	""	""	"0"	""	""	""	"Pat32"
"00435514"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat33"
"00435515"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat37"
"00435516"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat39"
"00435517"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, family, has father with similar phenotype"	"M"	""	""	""	"0"	""	""	""	"Pat40"
"00435518"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, twin pregnancy, half brother shares 2p deletion (del(2)(p22.3p22.3)) and overgrowth, but mother/twin brother have deletion with normal development"	"F"	""	""	""	"0"	""	""	""	"Pat41"
"00435519"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat42"
"00435520"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, maternal grandfather has epilepsy (no learning difficulties), maternal uncle has mild learning difficulties"	"M"	""	""	""	"0"	""	""	""	"Pat45"
"00435521"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat46"
"00435522"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat47"
"00435523"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat48"
"00435524"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	""	"M"	""	""	""	"0"	""	""	""	"Pat51"
"00435525"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat52"
"00435526"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat53"
"00435527"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat55"
"00435528"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	""	"F"	""	""	""	"0"	""	""	""	"Pat56"
"00435529"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat57"
"00435530"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	""	"M"	""	""	""	"0"	""	""	""	"Pat60"
"00435531"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Pat61"
"00435532"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat62"
"00435533"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat63"
"00435534"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat65"
"00435535"	""	""	""	"2"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, affected mother/son"	"M"	""	""	""	"0"	""	""	""	"Pat67"
"00435536"	""	""	"00435535"	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"mother"	"F"	""	""	""	"0"	""	""	""	"Pat68"
"00435537"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier mother, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat70"
"00435538"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat71"
"00435539"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, has affected mother and 3 siblings"	"M"	""	""	""	"0"	""	""	""	"Pat72"
"00435540"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, has father"	"M"	""	""	""	"0"	""	""	""	"Pat73"
"00435541"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, father and affected son"	"M"	""	""	""	"0"	""	""	""	"Pat74"
"00435542"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat75"
"00435543"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat76"
"00435544"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat77"
"00435545"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat82"
"00435546"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat83"
"00435547"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, has father"	"M"	""	""	""	"0"	""	""	""	"Pat84"
"00435548"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, father and affected son"	"M"	""	""	""	"0"	""	""	""	"Pat85"
"00435549"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00435550"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat10"
"00435551"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat34"
"00435552"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat38"
"00435553"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat44"
"00435554"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat49"
"00435555"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, family, aunt (from maternal side) had anorexia nervosa, her son Attention-Deficit Disorder"	"M"	""	""	""	"0"	""	""	""	"Pat50"
"00435556"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat54"
"00435557"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat58"
"00435558"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat59"
"00435559"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, brother with autism/intellectual disability carrying same copy number variants (not KDM6B variant)"	"M"	""	""	""	"0"	""	""	""	"Pat14"
"00435560"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat30"
"00435561"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat35"
"00435562"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat36"
"00435563"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat43"
"00435564"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat64"
"00435565"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier mother, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat66"
"00435566"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"F"	""	""	""	"0"	""	""	""	"Pat69"
"00435567"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"2-generation family, unaffected non-carrier parents, no affected relatives"	"M"	""	""	""	"0"	""	""	""	"Pat78"
"00435568"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, has affected mother, sister"	"M"	""	""	""	"0"	""	""	""	"Pat79"
"00435569"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, has affected mother, brother"	"F"	""	""	""	"0"	""	""	""	"Pat80"
"00435570"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2023:37196654}"	"family, has affected son and daughter"	"F"	""	""	""	"0"	""	""	""	"Pat81"
"00457803"	""	""	""	"2"	""	"03544"	""	"family, proband and affected sister, unaffected non carrier parents"	"M"	"-"	"- (not applicable)"	""	"0"	""	""	"white"	"family"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 115
"{{individualid}}"	"{{diseaseid}}"
"00301662"	"00198"
"00301664"	"00198"
"00309666"	"00198"
"00311940"	"00198"
"00311941"	"00198"
"00311942"	"00198"
"00311943"	"00198"
"00311944"	"00198"
"00311945"	"00198"
"00311946"	"00198"
"00311947"	"00198"
"00311948"	"00198"
"00311949"	"00198"
"00311950"	"00198"
"00385451"	"05339"
"00397651"	"06379"
"00433507"	"06379"
"00435169"	"05611"
"00435170"	"05611"
"00435171"	"05611"
"00435172"	"05611"
"00435173"	"05611"
"00435174"	"05611"
"00435175"	"05611"
"00435176"	"05611"
"00435177"	"05611"
"00435178"	"05611"
"00435179"	"05611"
"00435180"	"05611"
"00435486"	"05611"
"00435487"	"05611"
"00435488"	"05611"
"00435489"	"05611"
"00435490"	"05611"
"00435491"	"05611"
"00435492"	"05611"
"00435493"	"05611"
"00435494"	"05611"
"00435495"	"05611"
"00435496"	"05611"
"00435497"	"05611"
"00435498"	"05611"
"00435499"	"05611"
"00435500"	"05611"
"00435501"	"05611"
"00435502"	"05611"
"00435503"	"05611"
"00435504"	"05611"
"00435505"	"05611"
"00435506"	"05611"
"00435507"	"05611"
"00435508"	"05611"
"00435509"	"05611"
"00435510"	"05611"
"00435511"	"05611"
"00435512"	"05611"
"00435513"	"05611"
"00435514"	"05611"
"00435515"	"05611"
"00435516"	"05611"
"00435517"	"05611"
"00435518"	"05611"
"00435519"	"05611"
"00435520"	"05611"
"00435521"	"05611"
"00435522"	"05611"
"00435523"	"05611"
"00435524"	"05611"
"00435525"	"05611"
"00435526"	"05611"
"00435527"	"05611"
"00435528"	"05611"
"00435529"	"05611"
"00435530"	"05611"
"00435531"	"05611"
"00435532"	"05611"
"00435533"	"05611"
"00435534"	"05611"
"00435535"	"05611"
"00435536"	"05611"
"00435537"	"05611"
"00435538"	"05611"
"00435539"	"05611"
"00435540"	"05611"
"00435541"	"05611"
"00435542"	"05611"
"00435543"	"05611"
"00435544"	"05611"
"00435545"	"05611"
"00435546"	"05611"
"00435547"	"05611"
"00435548"	"05611"
"00435549"	"05611"
"00435550"	"05611"
"00435551"	"05611"
"00435552"	"05611"
"00435553"	"05611"
"00435554"	"05611"
"00435555"	"05611"
"00435556"	"05611"
"00435557"	"05611"
"00435558"	"05611"
"00435559"	"05611"
"00435560"	"05611"
"00435561"	"05611"
"00435562"	"05611"
"00435563"	"05611"
"00435564"	"05611"
"00435565"	"05611"
"00435566"	"05611"
"00435567"	"05611"
"00435568"	"05611"
"00435569"	"05611"
"00435570"	"05611"
"00457803"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05339, 05611, 06379
## Count = 104
"{{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}}"
"0000228763"	"00198"	"00301662"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Talipes equinovarus (HP:0001762); Generalized joint laxity (HP:0002761)"	""	""	""	""	""	""	""	""	""	""	""
"0000228765"	"00198"	"00301664"	"01807"	"Unknown"	""	"Intellectual disability (HP:0001249); Global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000234985"	"00198"	"00309666"	"01164"	"Unknown"	""	"Abnormality of the thyroid gland (HP:0000820); Global developmental delay (HP:0001263)"	""	""	""	""	""	""	""	""	""	""	""
"0000279246"	"05339"	"00385451"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., mild pulmonary valve stenosis, mild aortic root dilatation, atrial septal defect, ventricular septal defect, patent ductus arteriosus (closed surgically); polyvalvular syndrome, involvement both semilunar and both atrioventricular valves; hypotonia, myopia, soft pale skin, joint hypermobility, mild facial dysmorphism"	""	""	""	""	""	""	""	""	"CHTD2"	""	""
"0000290775"	"06379"	"00397651"	"01164"	"Unknown"	""	"Autism, Absent speech, Neurodevelopmental delay"	""	""	""	""	""	""	""	""	""	"1y"	""
"0000323964"	"06379"	"00433507"	"01164"	"Isolated (sporadic)"	"01y"	"Axial hypotonia, Strabismus, Neurodevelopmental delay, Hypotonia, Oral motor hypotonia, Epicanthus, Esodeviation, Hypomelanotic macule"	""	""	""	""	""	""	""	""	""	""	""
"0000325374"	"05611"	"00435169"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ..., height 25-50th, weight 90-95th, OFC 90th; prominent nasal bridge/nose; coarse features; no prognathism; no prominent forehead; no prominent ears; widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; no autism spectrum disorder; hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325375"	"05611"	"00435170"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., height 25th, weight 90th, OFC 90th; prominent nasal bridge/nose; coarse features; no prognathism; prominent forehead; prominent ears; widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; cognitive impairment; no autism spectrum disorder; hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325376"	"05611"	"00435171"	"00006"	"Isolated (sporadic)"	"2y"	"see paper; ..., height 85th, weight 76th, OFC 83rd; no prominent nasal bridge/nose; no coarse features; prognathism; no prominent forehead; no prominent ears; no widened hands; syndactyly; no joint hypermobility; motor delays; no autism spectrum disorder"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325377"	"05611"	"00435172"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., height 25th, weight 10th, OFC 25-50th; no prominent nasal bridge/nose; coarse features; no prognathism; prominent forehead; prominent ears; language delays; autism spectrum disorder; no hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325378"	"05611"	"00435173"	"00006"	"Isolated (sporadic)"	"6y"	"see paper; ..., height 75th, weight 82nd; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; prominent ears; no widened hands; no syndactyly; joint hypermobility; language delays; motor delays; no autism spectrum disorder; hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325379"	"05611"	"00435174"	"00006"	"Isolated (sporadic)"	"5y"	"see paper; ..., height 50th, weight 90th, OFC 97th; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; prominent ears; no widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; no cognitive impairment; autism spectrum disorder; hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325380"	"05611"	"00435175"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ..., height 25th, weight 25th, OFC 50–75th; no prominent nasal bridge/nose; coarse features; no prognathism; prominent forehead; prominent ears; no widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; no autism spectrum disorder; hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325381"	"05611"	"00435176"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ..., height 25-50th, weight 50th, OFC 50th; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; no prominent ears; no widened hands; syndactyly; joint hypermobility; language delays; motor delays; cognitive impairment; autism spectrum disorder; hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325382"	"05611"	"00435177"	"00006"	"Isolated (sporadic)"	"17y"	"see paper; ..., height <1st, weight 6th, OFC 5th; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; prominent ears; no widened hands; no syndactyly; no joint hypermobility; language delays; motor delays; cognitive impairment; no autism spectrum disorder; no hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325383"	"05611"	"00435178"	"00006"	"Isolated (sporadic)"	"2y"	"see paper; ..., height 25–50th, weight 50–75th, OFC 10–25th; no prominent nasal bridge/nose; no coarse features; no prognathism; no prominent forehead; no prominent ears; no widened hands; no syndactyly; joint hypermobility; language delays; motor delays; autism spectrum disorder; no hypotonia"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325384"	"05611"	"00435179"	"00006"	"Isolated (sporadic)"	"12y"	"see paper; ..., height 50th, weight 98th, OFC 97th; prominent nasal bridge/nose; coarse features; prognathism; prominent forehead; no prominent ears; widened hands; syndactyly; joint hypermobility; language delays; motor delays; cognitive impairment; autism spectrum disorder; hypotonia; sleeping problems"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325385"	"05611"	"00435180"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., height 45th, weight 45th, OFC 25th; prominent nasal bridge/nose; coarse features; prognathism; prominent forehead; no prominent ears; widened hands; syndactyly; no joint hypermobility; language delays; no motor delays; cognitive impairment; autism spectrum disorder; hypotonia; congenital heart disease (abnormal vena cava in sinus corinarius, annulus of mitralis valve)"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delays, dysmorphic features"	""
"0000325673"	"05611"	"00435486"	"00006"	"Familial"	"16y"	"see paper; ..., no pregnancy complications, vacuum extraction, Apgar 9,10,10; birth 39w+3d; mild language/speech delay, 18m-first words, 24m-started to understand speech; motor delay, 18m-first steps; no intellectual disability, learning difficulties; autism spectrum disorder; bossy, agressive (verbally); no psychosis/schizophrenia; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; symmetrically low reflexes, \"wooden\" motoric skills; no syndactyly; no vertebral abnormalities; distal brachydactyly (also in father),clinodactyly III,IV,V bilateral, short and broad feet,; no pectus excavatum; flat nasal bridge, deep set elanguage/speech delay, epicanthal folds, broad chin, anteverted nares, thin lips, coarse facial features, square face, prominent earlobes, Accessory nipple on left; no lip/cleft palate; mild hypermetropia; no strabismus; normal hearing; recurrent ear infections, ear tubes; no congenital heart disease; slow weight gain in first month due to breastfeeding problems, resolved after switching to bottle feeding; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; nasal speech"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325674"	"05611"	"00435487"	"00006"	"Familial"	"10y"	"see paper; ..., no complications pregnancy/delivery; birth 40w; language/speech delay, 18m-first words; motor delay, 22m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances, social developmental delay; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; mild intention tremor, \"wooden\" motoric skills; poor fine motoric skills; MRI brain normal; joint hypermobility (Breighton score 6/8); no syndactyly; no vertebral abnormalities; finger clubbing, clinodactyly IV and V bilateral; no pectus excavatum; hip dysplasia; prominent forehead, full eyebrows, deep set elanguage/speech delay, prominent chin, almond shaped palpebral fissures; no lip/cleft palate; hypermetropia; no strabismus; normal hearing; systolic heart murmor; slow weight gain in first month due to breastfeeding problems, resolved after switching to bottle feeding; as baby gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; 2 Cafe-au-lait spots; night incontinence; commonly head and abdominal pain"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325675"	"05611"	"00435488"	"00006"	"Isolated (sporadic)"	"9y"	"see paper; ..., no pregnancy complication, vacuum extraction, Apgar 4/7, NICU; birth 41w+4d; language/speech delay, 3y-no words, 5y-started to make 1-2 word sentences; motor delay, 18m-first steps; moderate intellectual disability; autism spectrum disorder; irritability, anger, anxiety (associated with obstipation periods); No contact except parents and physician; no psychosis/schizophrenia; uses psychiatric drugs, Oxcarbazepine for behavioural problems Clobazam; sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; hard to independetly walk (uses assitive tools like wheelchair); poor fine motorical skills; 2y-MRI brain normal; joint hypermobility (Breighton score 6/8); no syndactyly; no vertebral abnormalities; clinodactyly IV and V bilateral,short and broad feet,; no pectus excavatum; square face, flat nasal bridge, deep set elanguage/speech delay, epicanthal folds, short filtrum, cupid bow lips, prominent ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; 1 cafe-au-lait spot; adenotomy due to hyperplasia; bronchial asthma; very common airway infections"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325676"	"05611"	"00435489"	"00006"	"Isolated (sporadic)"	"25y"	"see paper; ..., no complications pregnancy/delivery; birth 40w; language/speech delay, 14m-first words, uses words only functionally; motor delay; intellectual disability; autism spectrum disorder; behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; as child very active at night, as adult not anymore, low score on communication and socialisation; febrile seizure after BMR vaccination (around 14m), thereafter stagnation of social emotional and speech development; no hypotonia; no dystonia; no spasticity; walked on toes as a child; hypertonia at arousal, involuntary movements in face (tic); no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet, broad finger tips, curls up toes in shoes; no pectus excavatum; deep-set elanguage/speech delay, very blue irises, mild synophrys, full lower lip; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; no congenital heart disease; 19y-cardiac arrest during anesthesia, cardiological evaluation normal; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; eats/drinks no cow\'s milk, no gluten and little soya; no allergy but seems sensitive to these products; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; metabolic screening increased essential amino acids alanin amongst others"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325677"	"05611"	"00435490"	"00006"	"Isolated (sporadic)"	"13y2m"	"see paper; ..., gestational diabetes, requiring insulin in 3rd term; birth 39w+3d; language/speech delay, 33m-first words; motor delay, 19m-first steps; mild intellectual disability; no autism spectrum disorder; ADHD; no psychosis/schizophrenia; uses psychiatric drugs, Medikinet due ADHD (switched from Rubifen); no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; relative macrocephaly, deep set elanguage/speech delay, full eyebrows, synophris,; no lip/cleft palate; hypermetropia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; phimosis; no cryptorchidism; tongue frenulum IQ because of dyslalia.; double appical hair whorl"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325678"	"05611"	"00435491"	"00006"	"Isolated (sporadic)"	"9y6m"	"see paper; ..., premature rupture amnion; birth 37w+0d; no language/speech delay; no motor delay, 14m-first steps; learning difficulties; no autism spectrum disorder; AHDS, aggression, problems in social interaction; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances; seizures/epilepsy; no hypotonia; no dystonia; no spasticity; tics in stressfull situation; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; high forhaed, deep set elanguage/speech delay, short nose, short philtrum, full lips, preauricular pit on the right side, fetal finger pads; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; still feeding difficulties; no skin hyperlaxity; no genitourinary abnormalities; addidional maxiliar tooth"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325679"	"05611"	"00435492"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., no complications pregnancy/delivery, Cesarian section for breech presentation; birth 37w; language/speech delay, 24m-first words; motor delay, 24m-first steps; mild intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; uses psychiatric drugs, successively Risperidone methyphenydate, atomoxétine; sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain cerebellar mild cortical atrophy; joint hypermobility; no syndactyly; kyphosis; unilateral varus foot, clinodactyly 5th finger, short hands; no pectus excavatum; hypotelorism short philtrum,round nasal tip, high nasal bridge, deep set elanguage/speech delay, brachycephaly; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; congenital hip dislocation"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325680"	"05611"	"00435493"	"00006"	"Isolated (sporadic)"	"6y6m"	"see paper; ..., pregnancy uncomplicated, prolonged delivery, vacuum extraction; birth 38w+6d; language/speech delay; motor delay, 10m-first steps; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances, global developmental delay; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; preauricular tag on the right side; hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325681"	"05611"	"00435494"	"00006"	"Unknown"	"19y"	"see paper; ..., adopted with known history of gestational exposure to multiple drugs; language/speech delay; motor delay; intellectual disability; autism spectrum disorder; behavior problems; psychosis/schizophrenia; uses psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; abnormal movements; no spasticity; ataxia; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; vestibular aqueduct dilation; no congenital heart disease; carotid sinus hypermobility; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; recurrent skin infections when younger"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325682"	"05611"	"00435495"	"00006"	"Unknown"	"17y"	"see paper; ..., adopted with known history of gestational exposure to multiple drugs; language/speech delay; motor delay; intellectual disability; autism spectrum disorder; behavior problems; psychosis/schizophrenia; uses psychiatric drugs, not adherent; no sleep disturbances; no seizures/epilepsy; hypotonia; dystonic type episodes; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; history of vomiting; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; hypercalcemia, carnitine deficiency, vomiting, urinary and bowel incontinence"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325683"	"05611"	"00435496"	"00006"	"Isolated (sporadic)"	"6y"	"see paper; ..., no complications pregnancy/delivery; birth 39w; 12m-first words; motor delay, >24m-first steps; mild intellectual disability; no autism spectrum disorder; Tantrums, inattention; no psychosis/schizophrenia; no use psychiatric drugs; history of obstructive sleep apnea; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; neurogenic bladder; tethered cord; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; macrocephaly, prominent forehead, wide mouth, slightly prominent anti- helices, joint hypermobility; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, G-tube; no gastroesophageal reflux; chronic constipation; failure to thrive, history of frequent vomiting; no skin hyperlaxity; no genitourinary abnormalities; livedo reticularis"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325684"	"05611"	"00435497"	"00006"	"Isolated (sporadic)"	"5y"	"see paper; ..., pregnancy small for gestational age, C-section; birth 38w+0d; no language/speech delay, 19.5, but inconsistent use of words;  consistent use of words 29m; motor delay, 25m-first steps; moderate intellectual disability; autism spectrum disorder; ADHD, aggression, problems in social interaction; no psychosis/schizophrenia; no use psychiatric drugs; sleep apnea; absence seizures and GTC; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; hypertelorism, synorphys, fine upper lip hair, deep set elanguage/speech delay, prominent upper nasal bridge with downturned nasal tip, short filtrum, prognathism, cheeks full (steroids), hypodontia, microdontia, wide hands, minimal hypermobility elbows, cryptorchidism; no lip/cleft palate; no hypermetropia/myopia; strabismus (exotropia); normal hearing; no recurrent ear infections; congenital heart disease (PDA); neonatal feeding difficulties, admitted to NICU for 8d for feeding difficulties; gastroesophageal reflux; constipation; on ketogenic diet; no skin hyperlaxity; no genitourinary abnormalities; cryptorchidism; admitted for pneumonia and was given dose of antibiotics which showed a \"transformative improvement \" in cognition/behavior after antibiotic administration. Dad describes change as using more words, longer attention span.  Only temporary.  He then received a steroid transfusion which again showed huge improvement which gradually wears off. He is now on oral prednisone, he gets crushed prednisone every 3 days, shown to have huge improvements to cognition and then he regresses back to his baseline. NYU plan is to bring him back in and do a few rounds of steroid pulse therapy."	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325685"	"05611"	"00435498"	"00006"	"Unknown"	"12y4m"	"see paper; ..., no complications pregnancy/delivery; birth 40w+1d; 13m-first words; motor delay, 21m-first steps; learning difficulties; autism spectrum disorder; AHDS, aggressive, impulsive behaivior; psychosis/schizophrenia; uses psychiatric drugs, Methylphenidat; sleep disturbances; hyperphagia, problems in social interaction; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; tics; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; rhinitis sicca; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; hyperphagia; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325686"	"05611"	"00435499"	"00006"	"Isolated (sporadic)"	"14y"	"see both papers; ..., birth 33w; language/speech delay, no speech; motor delay; severe intellectual disability (contributed by Pathogenic HNRNPU variant); no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain cerebral atrophy, multiple lesions including glial lesions, atrophy of the cerebellar vermis, corpus callosum agenesis; no joint hypermobility; no syndactyly; scoliosis; no pectus excavatum; coarse face, deep set elanguage/speech delay, hypertelorism, depressed nasal bridge, short nose, anteverted nares, low set ears, thin upper and everted lower lip vermelion, teeth abnormalities; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital heart disease (ASD II); neonatal feeding difficulties; agenesis right kidney"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325687"	"05611"	"00435500"	"00006"	"Familial"	"19y"	"see paper; ..., infection near end of pregnancy; birth 32w; language/speech delay, 6m-first words, 24m-phrases/sentences; no motor delay, 15-16m-first steps; learning difficulties; autism spectrum disorder; anxiety, aggression; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; regression, 8m-loss of words; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility knees; no syndactyly; no vertebral abnormalities; abnormalities hand/foot/finger (PIP joints prominent); no pectus excavatum; slight chest asymmetry; macrocephaly thin upper lip; no lip/cleft palate; myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; asthma in childhood, inguinal hernias; <3y-hospitalized 4-5X per year; 6m-bilateral inguinal hernia repair"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325688"	"05611"	"00435501"	"00006"	"Isolated (sporadic)"	"6y6m"	"see paper; ..., failed induction, fetal distress; birth 40w; no language/speech delay, 22m-first words, very slow progress; motor delay, 18m-first steps; no intellectual disability, learning difficulties; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; developmental delay; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; mild ptosis  lop ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; mild skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325689"	"05611"	"00435502"	"00006"	"Isolated (sporadic)"	"2y8m"	"see paper; ..., vacuum extraction; birth 37w+6d; 14 m-first words; motor delay, 20m-first steps; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; coarse face, prominent forehead, flat nasal bridge, coarse lips, single central incisive tooth, plagiocephaly; no lip/cleft palate; no strabismus; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325690"	"05611"	"00435503"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., pregnancy concern regarding LGA; birth 38w; language/speech delay, >42m-first words; motor delay, 48m-first steps; severe intellectual disability; autism spectrum disorder; probable ADHD; no psychosis/schizophrenia; uses psychiatric drugs, clonidine, biphentin; delayed sleep initiation and maintenance; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; 4y-MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; broad fingertips; no pectus excavatum; bilateral external tibial torsion; coarse features, deep set elanguage/speech delay, infraorbital creases, short and prominent philtrum, large teeth, large simple ears,; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; hypopigmented compared to family members"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325691"	"05611"	"00435504"	"00006"	"Isolated (sporadic)"	"10y5m"	"see paper; ..., Intrauterine growth restriction; birth 37w; language/speech delay, 24m-first words; motor delay, 18m-first steps; mild/borderline intellectual disability, learning difficulties; 5y6m-mild autism spectrum disorder; stubborn, \"lazy\"; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; bruxism; no seizures/epilepsy; no hypotonia; dystonic posture upper limbs; no spasticity,  tendency tip-toe walking, botulinum toxin type A (BTX-A) injections performed at  calfs (riceps surae muscle); mild dysartria; 10y5m-neurological evaluation cerebellar and extrapriamidal involvement with dystonic postures, slight piramidal signs; 3y-MRI brain subcortical cerebellum atrophy; no joint hypermobility; slight bilateral II,III,IV toe syndactyly; no vertebral abnormalities; right congenital radiocapitelar luxation with 15D right elbow extension limitation, varus deformity and 5D pronation and 20D supination limitation; no pectus excavatum; extra rib on each side, cervical vertebral fusion suspected; low anterior hairline, depressed nasal bridge, upturned nose, , anteverted nostrils, smooth philtrum, thin upper lip, retroauricular creases/dimples, broad face/full cheeks; no lip/cleft palate; hypermetropia; no strabismus; astigmatism; normal hearing; no recurrent ear infections; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; cafe-au-lait spots; considered overgrowth at some point in childhood; 5y9m-developmental assessment with Griffiths scale performance below 1SD; others below 2SD; features of ASD"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325692"	"05611"	"00435505"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., complicated delivery, Apgar 2/5, neonatal intensive care unit 15 days; birth 39w; language/speech delay, no words, only syllabes; motor delay, 18m-first steps; no autism spectrum disorder; agitation,agressivity; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; neonatal hypotonia; no dystonia; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; large nose; no lip/cleft palate; normal hearing; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; left pyelic duplicity; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325693"	"05611"	"00435506"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ..., no complications pregnancy/delivery; birth 40w; 9m-first words; gross motor delay, 18-19m-first steps ; no intellectual disability; aggressive behavior, noncompliance, physical aggression, poor play skills; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; tethered spinal cord; 4y-MRI brain normal; no joint hypermobility; no syndactyly; scoliosis; abnormalities hand/foot/finger; no pectus excavatum; macrocephaly with frontal prominence, hypertelorism, deep-set and long and prominent eyelashes, overfolded ears, prognathism with lower diastema); no lip/cleft palate; congenital heart disease (pulmonary stenosis that resolved by 3y); 3y-ECG minimally dilated main and branch pulmonary arteries; neonatal feeding difficulties; gastroesophageal reflux; constipation; eosinophilic esophagitis; no skin hyperlaxity; no genitourinary abnormalities"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325694"	"05611"	"00435507"	"00006"	"Familial"	"4y10m"	"see paper; ..., gestational diabetes; birth 41w+5d; language/speech delay, <24mm-first words, 4y8m able to formulate sentences; motor delay, 23m-first steps; no autism spectrum disorder; anxiety; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; drooling; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; deep-set elanguage/speech delay, strabismus, well-defined philtrum, full cheeks, flat nasal bridge, anteverted nostrils, square face, mild synophris, overcrowded toes; no lip/cleft palate; hypermetropia; strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux when younger; only eats mixed food, vomit if food pieces; no skin hyperlaxity; no genitourinary abnormalities"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325695"	"05611"	"00435508"	"00006"	"Isolated (sporadic)"	"26y"	"see paper; ..., no complications pregnancy/delivery, benign hydrocephalus a priori long delivery; language/speech delay, 30m-first words; motor delay, 18m-first steps; no intellectual disability; early and atypical depression, attention deficit, anxiety, atypical sensory; psychosis/schizophrenia; uses psychiatric drugs, past treatement risperdal, seroplex, laroxyl, lyrica, currently olanzapine; sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain platybasia, small foramen magnum; mild joint hypermobility; pes planus; no dysmorphic features; no lip/cleft palate; myopia, astigmatism; no strabismus; persistent nystagmus; normal hearing; no recurrent ear infections; no congenital heart disease; EKG/ECGy normal; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325696"	"05611"	"00435509"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., pregnancy shoulder dystocia; birth 40w+2d; language/speech delay; motor delay, 25m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; previous sleep disturbances; no seizures/epilepsy; core hypotonia; no dystonia; increased tonus in legs, tip-toe walking; getting tired quickly; no joint hypermobility; no syndactyly; brachydactyly, broad toes; no pectus excavatum; long face, flat nasal bridge, anteverted nares, downslanted palpebral fissures, long philtrum; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; diarrhea; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; common infections; fast develops hypothermia (35.5oC)"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325697"	"05611"	"00435510"	"00006"	"Isolated (sporadic)"	"10y"	"see paper; ..., no complications pregnancy/delivery; birth 40w+6d; language/speech delay; motor delay, 28m-first steps; mild intellectual disability; autism spectrum disorder; aggression; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; getting tired quickly; hyporeflexia; MRI brain possible mild general atrophy; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no lip/cleft palate; hypermetropia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; gastroesophageal reflux in infancy; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325698"	"05611"	"00435511"	"00006"	"Isolated (sporadic)"	"13y"	"see paper; ..., gestational diabetes; birth 38w; language/speech delay, 19m-first words, communicates with vocalizations, very particular jargon made of bisyllabic words, often not understandable, but with rich and very particular verbal production; 4-5y-language understandable ; 7-8y-sentences, good aspects concerning understanding, attended school with the support teacher; motor delay, 25m-first steps; intellectual disability; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; <1y-sleep disturbances; 5y6m onset seizures, long lasting complex partial seizures with hospitalization in intensive care unit, partial seizures during sleep, focal epilepsy with opercular seizures; current therapy Ethosuximide, Clobazam; hypotonia; MRI brain normal; no joint hypermobility; no syndactyly; scoliosis, dorsolumbar; very slight widening distal phalanx of the 1st finger, slightly broad and valgus first toe; no pectus excavatum; high forehead.  slightly straight eyebrows slightly prominent nasal bridge prominent cheeks. fleshy lips, wide mouth, often open, with slightly subverted lips. diastasis of the incisors.; no lip/cleft palate; no strabismus; fundus oculi peripheral depigmentation strips; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325699"	"05611"	"00435512"	"00006"	"Unknown"	"12y"	"see paper; ..., maternal alcohol abuse; birth at term; language/speech delay, 18m-first words; motor delay, 21m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; small hands/ feet, clinodactyly of the fifth digit, palmar creases were norma, no persistent fingertip pads; no pectus excavatum; prominent nasal bridge, esotropia right eye, palpebral fissures measured 3 cm (90%), did not have eversion of the lower lateral eyelids, ptosis,  or other eye findings suggestive of kabuki syndrome, ears were somewhat prominent and measured 6cm, mild prognathism and a somewhat prominent forehead; no lip/cleft palate; unilateral myopia causing right esotropia; strabismus; vision20/400 right eye and 20/30 causing amblyopia and right esotropia, not using right eye; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, lethargy interfered with taking bottle well; gastroesophageal reflux in infancy-resolved; no constipation; no skin hyperlaxity; no genitourinary abnormalities; hypoglycemia and presumed partial adrenal insufficiency"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325700"	"05611"	"00435513"	"00006"	"Familial"	"14y"	"see paper; ..., 8m-gestation hypertension; mother on bed rest last 6 weeks of pregnancy, mother had anti-Duffy antibodies, prenatal ultrasound showed heart abnormalities  ; birth 40w; language/speech delay, 18m-first words; motor delay, 14m-first steps; no intellectual disability; autism spectrum disorder; ADHD, anxiety; no psychosis/schizophrenia; uses psychiatric drugs, multiple medications at different ages, including asenapine and Geodon; no sleep disturbances, mild articulation issues; no seizures/epilepsy; hypotonia, muscle issues in core and hands; no dystonia; no spasticity; occasional enuresis; joint hypermobility,m ild hypermobility in hands; no syndactyly; no vertebral abnormalities; soft hands, mild generalized brachydactyly with middle finger length:total hand length ratio of 40.1 % (slightly >3%ile); no pectus excavatum; borderline macrocephaly, relatively broad facial shape, upturned nasal tip; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital heart disease (two muscular VSDs, bicuspid aortic valve, mild aortic tenosis, mild gradient in descending aorta suggesting a mild coarctation); mild stable aortic dilatation; no neonatal feeding difficulties; gastroesophageal reflux; constipation; excessive weight gain despite exercise and dietary monitoring (?related to medication); no skin hyperlaxity; no genitourinary abnormalities; cryptorchidism; premature adrenarche, advanced bone age, family history of hereditary hemochromatosis"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325701"	"05611"	"00435514"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., no complications pregnancy/delivery; birth 39w+6d; language/speech delay, 35m-first words; motor delay, 24m-walk; mild intellectual disability; autism spectrum disorder; poor social skills, stereotypic behaviour; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; cheerful; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; poor coordination skills; MRI brain normal; joint hypermobility; no syndactyly; hyperlordosis; hands broad, broad feet, short toes, sandal gap, mild clinodactyly dig 3-4; no pectus excavatum; high anterior hairline, prominent forehead, hypertelorism, broad mouth, protruding ears.; no lip/cleft palate; hypermetropia; no strabismus; astigmatism; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; infancy paroxysmal tonic downgaze/atypical ocular bobbing (resolved without treatment <2y)"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325702"	"05611"	"00435515"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., no complications pregnancy/delivery; birth 39w; language/speech delay, 15m-first words, 13y-one word phrases; motor delay, 20m-first steps; intellectual disability; no autism spectrum disorder; stubborn, aggressive, tantrums; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; 12m-onset myoclonic seizures; hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; prominent forehead; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital posterior malalignment ventricular septal defect, severe subaortic stenosis and aortic root hypoplasia, interrupted aortic arch \"B\", required prostaglandin at birth and surgical repair, 1m-Norwood/Sano 6mm with small atrial septal defect left alone, 3m15d-severe \"coarctation\" at site of arch repair and required balloon, 7m-pulmonary homograft patch reconstruction of aortic arch; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; penile torsion released at circumcision; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325703"	"05611"	"00435516"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., no complications pregnancy/delivery; birth 37w+2d; language/speech delay, 24m-first words; motor delay, 22m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; nose tip upright; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325704"	"05611"	"00435517"	"00006"	"Isolated (sporadic)"	"3y11m"	"see paper; ..., 1st and 2nd trimester bleeding; birth 41w; language/speech delay, 24-30m-first words; motor delay, 19m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no use psychiatric drugs; no sleep disturbances; moderate global developmental delay; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; prominent fingertip pads; no pectus excavatum; downward sloping shoulders, proportionate tall stature, talipes; downturned corners of mouth; cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed 3 days; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325705"	"05611"	"00435518"	"00006"	"Isolated (sporadic)"	"6y5m"	"see paper; ..., moderate intra-uterine growth retardation; birth 36w; language/speech delay, 24-30m-first words; motor delay, 24-30m-first steps; no autism spectrum disorder; short attention span; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; moderate global developmental delay; moderate global developmental delay; short attention span; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; proportionate tall stature; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed 5 days; gastroesophageal reflux, gaviscon prescribed; no constipation; no skin hyperlaxity; no genitourinary abnormalities"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325706"	"05611"	"00435519"	"00006"	"Isolated (sporadic)"	"4y6m"	"see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay, 24-30m-first words; motor delay, 19m-first steps; autism spectrum disorder; no behavior problems; uses psychiatric drugs, prozac for first 14 weeks; no sleep disturbances; developmental regression; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed 5 days; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; café-au-lait spot"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325707"	"05611"	"00435520"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ..., pregnancy polyhydramnios, elective c-section; birth 39/40w; language/speech delay, 18m-first words; motor delay, 27m-first steps; intellectual disability; no autism spectrum disorder; behavior problems; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet with broad base but otherwise normal gait; 0.5cm bony prominence at level of xiphoid process (no pectus deformity); strawberry neavus was present at back of neck with no other skin lesions or freckling;  frontal bossing with deep-set elanguage/speech delay and low-set posteriorly-rotated ears.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325708"	"05611"	"00435521"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., no complications pregnancy/delivery; birth 37/40w; language/speech delay, >36m-first words; motor delay, 24m-first steps; intellectual disability; no autism spectrum disorder; no behavior problems; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy, EEG normal; hypotonia; no spasticity, 9y-still unsteady; MRI brain normal; no syndactyly; no vertebral abnormalities; one hand very enlarged, pes planus; no pectus excavatum; broad mouth with large tongue, short nose, upturned earlobes, extra niple; no lip/cleft palate; no hypermetropia/myopia; no strabismus; left ptosis; normal hearing; no congenital heart disease; gagging during infancy; hypoglyceamia for 1/12"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325709"	"05611"	"00435522"	"00006"	"Isolated (sporadic)"	"8y8m"	"see paper; ..., pregnancy ventouse, induced; birth 42w; language/speech delay, 12m-first words, abnormal speech pattern, poor understanding and attention; motor delay, 21m-first steps; intellectual disability; autistic-like features, hand flapping, mouthing and repetitive mannerisms, difficulties with language and socialising but also some features not in keeping with autism spectrum disorder, desire to include other people in her experiences and demonstration of empathy; rigid behaviour; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; EEG non-specific; joint hypermobility; no syndactyly; flat feet; prominent cupids bow, vanishing lateral vermillion borders, large ears, slightly deep-set elanguage/speech delay, proominent chin, small widely spaced teeth and high-arched palate.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325710"	"05611"	"00435523"	"00006"	"Isolated (sporadic)"	"23y"	"see paper; ..., no complications pregnancy/delivery; birth 38w; language/speech delay, 24m-first words; motor delay; learning difficulties; autism spectrum disorder; ADHD, aggressive behavior; no psychosis/schizophrenia; uses psychiatric drugs,methylphenidat; sleep disturbances; problems in social interaction; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325711"	"05611"	"00435524"	"00006"	"Unknown"	"8y"	"see paper; ..., no complications pregnancy/delivery; birth 41w; no motor delay; no intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no sleep disturbances; seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no congenital heart disease"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325712"	"05611"	"00435525"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., language/speech delay; no intellectual disability; autism spectrum disorder;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325713"	"05611"	"00435526"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., language/speech delay; no intellectual disability; autism spectrum disorder;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325714"	"05611"	"00435527"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., language/speech delay; no intellectual disability; autism spectrum disorder;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325715"	"05611"	"00435528"	"00006"	"Unknown"	"25y"	"see paper; ..., language/speech delay; no motor delay; no intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; depression; abnormal eating behaviour; 3y-no eye contac; no interest in socializing with others; echolalia; OCD; seizures/epilepsy; strabismus; no congenital heart disease;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325716"	"05611"	"00435529"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., no complications pregnancy/delivery; birth 38w; language/speech delay; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no seizures/epilepsy; no dystonia; PVL due to prematurity (born 32w6/7); no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; coccygeal dimple; no dysmorphic features; no lip/cleft palate; strabismus; normal hearing; left aortic arch with normal branching pattern lsvc to corory sinus, partially anomalous pulmonary veins, right superior VE cava to right atrium, sinus venosus septal defect, superior type, screener diagnosis SVASD; meatal stenosis; no cryptorchidism"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325717"	"05611"	"00435530"	"00006"	"Familial"	""	"see paper; ..., language/speech delay, 27m-first words; motor delay, 14m-first steps; autism spectrum disorder; no behavior problems; coordination issues;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325718"	"05611"	"00435531"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., mild language/speech delay; autism spectrum disorder;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325719"	"05611"	"00435532"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., language/speech delay, 24m-first words; motor delay, 16m-first steps; no intellectual disability; autism spectrum disorder; no behavior problems; no vertebral abnormalities;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325720"	"05611"	"00435533"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., no language/speech delay; no intellectual disability; autism spectrum disorder; behavior problems; hypotonia; tics; constipation;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325721"	"05611"	"00435534"	"00006"	"Isolated (sporadic)"	"11y"	"see paper; ..., no complications pregnancy/delivery; birth 40w; language/speech delay, 48,m-first words, regular lallation was reported., 4y-irst understandable words, 5y-articulated sentence; motor delay, 24m-first steps; mild intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; <1y-sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain multiple focal areas of altered signal, mostly subcortical, especially in the bilateral frontal area, thinning of corpus callosum, diilation of the Virchow-Robin perivascular spaces; no joint hypermobility; no syndactyly; no vertebral abnormalities; slightly broad and valgus first toe; no pectus excavatum; high forehead, slightly straight eyebrows, slightly sunken elanguage/speech delay, prominence of supraorbital arches, horizontal nystagmus, chin dimple, retrorotated ears, with slightly protruding helix, prominent nasal bridge, lips fairly fleshy; no lip/cleft palate; hypermetropia, astigmatism; no strabismus; horizontal nystagmus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325722"	"05611"	"00435535"	"00006"	"Familial"	"5y"	"see paper; ..., pregnancy toxoplasma seroconversion; birth 38w; language/speech delay, 24m-first words; motor delay, 24m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; stereotypic behaviors (flapping, rubbing ears, hitting his thighs); no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain external hydrocephalus; distal joint hypermobility; no syndactyly; thoracic kyphosis without vertebral defect; flat feet; no pectus excavatum; high forehead, downslanting palpebral fissures, slightly sunken elanguage/speech delay, chin dimple, downturned corners of mouth, fleshy lips, prominent ear lobes; no lip/cleft palate; mild hypermetropia (+1D); no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; inguinal lentigines;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325723"	"05611"	"00435536"	"00006"	"Unknown"	"35y"	"see paper; ..., language/speech delay; mild motor delay, 18m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; joint hypermobility (recurvatum knees and elbows); no syndactyly; no vertebral abnormalities; flat feet; no pectus excavatum; no dysmorphic features; no lip/cleft palate; mild myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; cafe au lait spots;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325724"	"05611"	"00435537"	"00006"	"Unknown"	"8y11m"	"see paper; ..., birth 41w; language/speech delay, 48m-first words; no motor delay, 11m-first steps; no autism spectrum disorder; hyperactivity; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances, uses melatonine; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; 3y10m-MRI brain normal; joint hypermobility; no syndactyly; no pectus excavatum; midface hypoplasia, sparse in eyebrow, deeply set elanguage/speech delay, wide, short nose, short philtrum, wide mouth, everted lips, anteverted nares; no lip/cleft palate; hypermetropia; recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325725"	"05611"	"00435538"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay, 36m-first words; motor delay, 18m-first steps; mild intellectual disability; autism spectrum disorder; behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; gross motor impairment, slight balance disturbance; MRI brain symmetrical and bilateral blurred T2 signal hyperintensity in supra- and retrotrigonal WM, widespread expansion subarachnoid liquor spaces in the interhemispheric site, fronto-temporal convexity and temporopolar areas; joint hypermobility; no syndactyly; no vertebral abnormalities; thickened fingers, shortness nail bed first and second fingers and toes; no pectus excavatum; prominent forehead, deep set elanguage/speech delay, sparse eyebrows, uplifted earlobes, protruding ears, flat philtrum, everted upper and lower lips; no lip/cleft palate; mild hypermetropic astigmatism; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325726"	"05611"	"00435539"	"00006"	"Unknown"	"7y"	"see paper; ..., birth at term; language/speech delay, 36m-first words; motor delay, 24m-first steps; no intellectual disability; no autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; MRI brain normal; no vertebral abnormalities; no pectus excavatum; prominent forehead, short nose, low-sett, protruding ears, downslanted eyelids; no lip/cleft palate; strabismus; no cryptorchidism;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325727"	"05611"	"00435540"	"00006"	"Familial"	"10y"	"see paper; ..., bleeding in early pregnancy; birth at term; language/speech delay; motor delay; mild intellectual disability; autism spectrum disorder; attention deficit; hypotonia; joint hypermobility; simian crease, short thumbs, fetal pads, pes planovalgus; no pectus excavatum; hip dysplasia; hypertelorism, microcephaly, small chin, protruding ears; no lip/cleft palate; mild hypermetropic astigmatism; normal hearing;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325728"	"05611"	"00435541"	"00006"	"Unknown"	"49y"	"see paper; ..., language/speech delay; learning difficulties; no pectus excavatum"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325729"	"05611"	"00435542"	"00006"	"Unknown"	"9y"	"see paper; ..., no language/speech delay; motor delay, 24m-first steps; impulsive; no sleep disturbances; hypotonia; kyphosis; pes planus; no pectus excavatum; prominent forehead, midface hypoplasia, macrocephaly; no lip/cleft palate;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325730"	"05611"	"00435543"	"00006"	"Isolated (sporadic)"	"14y"	"see paper; ..., birth 41w+5d; language/speech delay; motor delay, 30m-first steps; no intellectual disability; no autism spectrum disorder; no use psychiatric drugs; obstructive and central sleep apnea; no seizures/epilepsy; hypotonia; no dystonia; MRI brain paracerebellar ventricular enlargement; joint hypermobility; no syndactyly; genu valgum, short toe nails, pes planus et valgus; recurrent patella luxation, temporary hemiepiphysiodesis distal femur medial left; wide nose, full cheeks, epicanthus in infancy; no lip/cleft palate; astigmatism; neonatal feeding difficulties; partial alopecia at sagittal suture; neonatal CMV infection; lactose intolerant;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325731"	"05611"	"00435544"	"00006"	"Isolated (sporadic)"	"19y"	"see paper; ..., induction of labor at 40 w for reduced fetal movements; birth 40w; no language/speech delay, 48m-first words; no motor delay, 18m-first steps; intellectual disability; autism spectrum disorder; no behavior problems; no use psychiatric drugs; sleep disturbances; seizures/epilepsy, drug resistant epilepsy: general and focal seizures; with currently 1 event per month on oxacarbazepine + clobazam; no hypotonia; no dystonia; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; flat feet; no pectus excavatum; prominent forehead, synophrys, deeply sett elanguage/speech delay,wide nose with prominent bridge, wide mouth, thick lips; no lip/cleft palate; hypermetropia; strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325732"	"05611"	"00435545"	"00006"	"Isolated (sporadic)"	"1y6m"	"see paper; ..., induction of labor a37/40w for reduced fetal movements, born in good condition (Apgar scores 7 and 8); 1d-deteriorated, severe pulmonary HTn (see cardiac); birth 37w; language/speech delay, no words as yet, speech therapy starting on signing; motor delay, 17m-sit, not walking; sleep disturbances, poor sleep, frequent waking for prolonged periods of time; 17m-inconsistently responds to own name (normal audiology), sensory seeking, mostly happy baby; seizures/epilepsy newborn period after neurological insult from hypoperfusion, has been off AEDs for >1y and remains seizure free; hypotonia; no dystonia; no spasticity; unusual posturing of arms, although not dystonic as per neurologist assessment; MRI brain no structural anomalies; 5d-MRI showed multiple punctate bilateral frontoparietal white matter T1 hyperintensities  compatible with microhemorrhages, bilateral posterior fossa and parieto-occipital subdural haematomas with subgaleal haematomas, possibly birth-related; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; 17m-will not weight bare through legs; tall forehead, deep set elanguage/speech delay, medially spares eyebrows, short nose, full cheeks, down turned corners of the mouth .; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; congenital cardiac disease, disconnected right pulmonary artery (supplied by a PDA), surgically reconnected (implantation of right pulmonary artery, ligation of PDA), pulmonary aftery restenosed, 4m-balloon dilatation, restenosed again, 8m-stent angioplasty, restenosed again- arterial conduit graft is planned.; 2w-CT-angiogram abnormal abdominal vasculature including marked narrowing and some irregularity of the distal abdominal aorta, iliac & common femoral vessels with short segments of high-grade or complete stenosis of both common femoral arteries. Narrowing of the major abdominal aorta visceral branches, particularly renal arteries and possibly to a lesser extent the hepatic artery and coeliac axis was noted.; neonatal feeding difficulties; regular vomiting as an infant; constipation; no skin hyperlaxity; kidneys <5th centile in size for age; telangiectatisia on face and chest;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325733"	"05611"	"00435546"	"00006"	"Isolated (sporadic)"	"8y"	"see paper; ..., bleeding in early pregnancy, second empty sac on scan; birth 39w; language/speech delay, 12m-first words, then regressed with speech; motor delay, 18m-first steps; intellectual disability; moderate-severe autism spectrum disorder; attention deficit; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances, uses melatonin; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; initial very broad based gait; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; pes planus; no pectus excavatum; wide tented mouth, capillary haemangioma over glabella, broad nasal tip; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; grommets/Ts and As removed, bilateral preauricular pits; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux; no constipation; no skin hyperlaxity; bilateral cryptorchidism; inguinal hernia (left);"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325734"	"05611"	"00435547"	"00006"	"Familial"	"1y2m"	"see paper; ..., no complications pregnancy/delivery; birth 39w+1d; language/speech delay, babbling but no first words yet; motor delay, not walking; no behavior problems; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; torticollis, lingual frenulum; prominet forehead and nasal roo, pprominent ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325735"	"05611"	"00435548"	"00006"	"Unknown"	"33y"	"see paper; ..., no complications pregnancy/delivery; birth 39w; language/speech delay, 24m-first words; 14m-first steps; learning disability in special education classes in school; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; prominet forehead and nasal root, prominent ear, deep set elanguage/speech delay; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; tinnitus; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no cryptorchidism; hypertension;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325736"	"05611"	"00435549"	"00006"	"Isolated (sporadic)"	"14y"	"see paper; ..., no complications pregnancy/delivery; birth >38w; 30m-first words; motor delay, 22m-first steps; moderate intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain assymetric hyppocampus;, lightly delayed myelinisation; no syndactyly; no vertebral abnormalities; no pectus excavatum; deep set elanguage/speech delay, flat nasal bridge, full eyebrows, macrodontia, big mouth, almond shaped palpebral fissures, low set ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no congenital heart disease; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325737"	"05611"	"00435550"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., no complications pregnancy/delivery; birth 39w; language/speech delay, no speech; motor delay, >24m-first steps; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; global developmental delay; bruxism; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; mild joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; relative macrocephaly, high, bossed forehead, mild overfolding of superior helices, , micrognathia, glossoptosis; cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; feeding difficulties with solid foods; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325738"	"05611"	"00435551"	"00006"	"Isolated (sporadic)"	"11y"	"see paper; ..., no complications pregnancy/delivery; birth 41w; language/speech delay, normal age first words; motor delay, 24m-first steps; mild intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; mild dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325739"	"05611"	"00435552"	"00006"	"Isolated (sporadic)"	"6y"	"see paper; ..., maternal hypertension, placenta insufficiency; birth 40w+1d; language/speech delay; motor delay, 30m-first steps; no intellectual disability; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; soft skin; synophris, broad forehead, long uvula.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, difficulties with breast feeding; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism; hypotonia/hyperlaxity was that severe a muscle panel was performed; CK normal;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325740"	"05611"	"00435553"	"00006"	"Isolated (sporadic)"	"3y"	"see paper; ..., 1st and 2nd trimester bleeding; birth 28w; language/speech delay, 24-30m-first words; motor delay, 18m-first steps; no intellectual disability; no autism spectrum disorder; hyperactivity; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; malar flattening, prominent forehead, upslanted palpebral fissure; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties, NG fed for 6 weeks and 84 day SCBU / NICU stay but premature; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; ketosis;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325741"	"05611"	"00435554"	"00006"	"Isolated (sporadic)"	"7y3m"	"see paper; ..., no complications pregnancy/delivery; birth 40+/-2w; language/speech delay, 18m-first words; motor delay, 18m-first steps; no intellectual disability; autism spectrum disorder; no behavior problems; enuresis;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325742"	"05611"	"00435555"	"00006"	"Isolated (sporadic)"	"8y7m"	"see paper; ..., no complications pregnancy/delivery; birth 40+/-2w; language/speech delay, <18m-first words; no motor delay, 15m-first steps; no intellectual disability; autism spectrum disorder;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325743"	"05611"	"00435556"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., no language/speech delay; no intellectual disability; autism spectrum disorder;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325744"	"05611"	"00435557"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., language/speech delay; motor delay; autism spectrum disorder; global developmental delay; brachycephaly; deeply set elanguage/speech delay, downslanted palpebral fissures, low set ears;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325745"	"05611"	"00435558"	"00006"	"Isolated (sporadic)"	""	"see paper; ..., language/speech delay; motor delay; mild global developmental delay; hypotonia; dolichocephaly, unsteady gait; MRI brain abnormality of cerebral ventricles; 2-3 toe syndactyly; talipes; frontal bossing, prominent forehead;"	""	""	""	""	""	""	""	""	"NEDCFSA"	"neurodevelopmental delay"	""
"0000325746"	"05611"	"00435559"	"00006"	"Isolated (sporadic)"	"15y"	"see paper; ..., no complications pregnancy/delivery; birth 39w+0d; no language/speech delay, 36m-first words; motor delay, 30m-first steps; learning difficulties; autism spectrum disorder; behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; sleep disturbances, sometimes yells during the night, sweet character; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; joint hypermobility; no syndactyly; no vertebral abnormalities; mild clinodactyly digit 4; no pectus excavatum; deep set elanguage/speech delay, bulbous nose tip, thick alae nasi. large ears (normally positioned), long fingers, pes planus.; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; recurrent ear infections; congenital heart diseas, (murmur at young age; no neonatal feeding difficulties; gastroesophageal reflux, not problematic; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325747"	"05611"	"00435560"	"00006"	"Isolated (sporadic)"	"14y"	"see paper; ..., borderline gestational diabetes; language/speech delay, 36-48m-first words, 3-4y-did not verbalize first words until age 3-4yr, 2-3 words, one word at a time would be \'replaced\' week to week., can verbalize sentences now, has IEP at school focused on language and comprehension (one on one para); motor delay, 14-15m-first steps; intellectual disability; autism spectrum disorder; ADHD, impulsive, poor social skills, history of aggressive and irratible behaviors; no psychosis/schizophrenia; uses psychiatric drugs, Fluoxetine and lisdexamfetamine; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; mild macrdocephaly and prognathism, mildly coarse facial features and deep set elanguage/speech delay; no lip/cleft palate; no hypermetropia/myopia; no strabismus; bilateral mild sensoneuronal hearing loss; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325748"	"05611"	"00435561"	"00006"	"Isolated (sporadic)"	"7y"	"see paper; ..., no complications pregnancy/delivery; birth 38w; language/speech delay, 18m-first words; motor delay, 18m-first steps; 35m-onset febrile seizures;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325749"	"05611"	"00435562"	"00006"	"Isolated (sporadic)"	"14y5m"	"see paper; ..., forceps and vaccum-assisted delivery; birth at term; language/speech delay, 19-24m-first words; fine motor delay, 18m-first steps; no intellectual disability; autism spectrum disorder; ADHD; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; 10y-MRI brain normal; joint hypermobility knees (left 19 and right 25 degrees); no syndactyly; no vertebral abnormalities; clinodactyly 4th/5th toes; pectus excavatum; facial asymmetry secondary to positional plagiocephaly, closely spaced elanguage/speech delay (3%ile inner canthal measurement), multiple hair whorls with frontal upsweep of hair, large ears (97%ile), thin upper lip, broad chin, high-arched palate; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; 3 sets of pressure equalizer (PE) tubes; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity but soft skin; slight extension edge scrotum to lateral base penis, but not surrounding (not a shawl scrotum); no cryptorchidism; retained primary dentition;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325750"	"05611"	"00435563"	"00006"	"Isolated (sporadic)"	"7y2m"	"see paper; ..., 1st and 2nd trimester bleeding; birth 40w; language/speech delay, 24-30m-first words; motor delay, 18m-first steps; mild intellectual disability; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; MRI brain normal; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; anterverted nares, downslanted palpebral fissures, hypertelorism, posteriorly rotated ears, prominent occiput, short columella, thick lower lip vermilion, thick upper lip vermilion; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325751"	"05611"	"00435564"	"00006"	"Isolated (sporadic)"	"1y2m"	"see paper; ..., no complications pregnancy/delivery; birth 38w+2d; language/speech delay, 10m-first words; motor delay, 13m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; hypertonia in early infancy, improved tone in recent follow up examination; seizure like events resolved, appears as GERD which improved over time; MRI/MRS brain normal; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; gastroesophageal reflux; no constipation; no genitourinary abnormalities; no cryptorchidism; multiple cafe-au-lait spots; 7d-hypertonia, severe stiffness extremities, truncal and neck region stiffness; hold neck very early in life due to increased tone axial muscle regions; seizure like events such she will raise her both hands in upper extremity in a year with stiffness in addition to possible generalized axial stiffness lasting up to 20 seconds; seizure like events resolve spontaneously within next few weeks/ months after prompt treatment of her GERD and appears to be related to reflux; 12m-able to take some steps with steps and cruising along the furniture; last exam was significant for possible minimal increased tone in right lower extremity compared to rest of extremities; significant improvement of tone, tone appears near normal with minimal right ankle stiffness; symmetric movements;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325752"	"05611"	"00435565"	"00006"	"Unknown"	"12y"	"see paper; ..., maternal HTN; language/speech delay, 48m-first words; motor delay, 24m-first steps; intellectual disability; autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; left sided weakness, poor fine motor skills; joint hypermobility; no syndactyly; lordosis; tapering fingers; pectus excavatum; supraorbital ridging, upturned nose,downturned mouth,mildly notched alae nasae, prominent philtrum, large upper lip, chin ridge; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325753"	"05611"	"00435566"	"00006"	"Isolated (sporadic)"	"19y"	"see paper; ..., no complications pregnancy/delivery; birth 41w+1d; mild language/speech delay, early first words; no motor delay, 17-18m-first steps; no intellectual disability; autism spectrum disorder, \"Asperger\"; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no syndactyly; vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; no dysmorphic features; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325754"	"05611"	"00435567"	"00006"	"Isolated (sporadic)"	"4y"	"see paper; ..., nicotine (3 cigarettes/d) during pregnancy; in the neonatal period: recurrent hypoglycemia and instability of oxygen saturation in the first days of life; birth 40w+2d; language/speech delay, 12m-first words; motor delay, 18m-first steps; some features autism spectrum disorder; very anxious with foreign people (reacted with severe crying esp. at young age), needed clear structure in every day routine; sleep disturbances at young age; no seizures/epilepsy; hypotonia, quite pronounced at beginning; no dystonia; instability at walking, slightly raised CK (283 U/l); MRI/MRS brain normal; joint hypermobility; no syndactyly; no vertebral abnormalities; slightly broader hands; no pectus excavatum; prominent forehead, slight epicanthus, wide, short nose awith prominent nasal bridge, full cheeks, small philtrum, wide mouth, thin upper lip vermilion, wide spaced teeth, low-set ears; no lip/cleft palate; myopia; strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325755"	"05611"	"00435568"	"00006"	"Familial"	"7y6m"	"see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay, 24m-first words; motor delay, 24m-first steps; no intellectual disability, but heterogeneous profile (WISC IV); no autism spectrum disorder; attention deficit; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; vertebral abnormalities; pes planus; no pectus excavatum; mylagia, fatigability, swallowing difficulties; high forehead; no lip/cleft palate; no hypermetropia/myopia; no strabismus; photophobia; normal hearing; recurrent ear infections; noise hypersensibility; no congenital heart disease; neonatal feeding difficulties; gastroesophageal reflux; constipation; persistant feeding difficulties; no skin hyperlaxity; no genitourinary abnormalities; unilateral cryptorchidism; multiple telangiectasia;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325756"	"05611"	"00435569"	"00006"	"Familial"	"10y"	"see paper; ..., no complications pregnancy/delivery; birth 39w; 12m-first words; motor delay, 18m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; MRI brain normal; joint hypermobility; no syndactyly; vertebral abnormalities; pes planus; no pectus excavatum; mylagia, fatigability; high forehead; no lip/cleft palate; hypermetropia; no strabismus; photophobia; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; constipation; no skin hyperlaxity; no genitourinary abnormalities; keratosis pilaris;"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325757"	"05611"	"00435570"	"00006"	"Unknown"	"30y"	"see paper; ..., no complications pregnancy/delivery; birth 37w; language/speech delay; no motor delay, 14m-first steps; no intellectual disability; no autism spectrum disorder; no behavior problems; no psychosis/schizophrenia; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; hypotonia; no dystonia; no spasticity; joint hypermobility; no syndactyly; vertebral abnormalities; pes planus, palmar hyperlinearity; no pectus excavatum; mylagia, fatigability, swallowing difficulties; high forehead, micrognathism; no lip/cleft palate; hypermetropia; no strabismus; photophobia; normal hearing; recurrent ear infections; congenital heart disease (bicuspid aortic valve); no neonatal feeding difficulties; no gastroesophageal reflux; constipation; skin hyperlaxity; no genitourinary abnormalities; large stretch marks"	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000346252"	"00198"	"00457803"	"03544"	"Familial"	""	"HP:0001249, HP:0001250, HP:0000708"	""	""	""	""	""	""	""	""	""	"complex neurodevelopmental disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 115
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000302787"	"00301662"	"1"	"01807"	"01807"	"2020-05-20 08:45:01"	""	""	"SEQ"	"DNA"	""	""
"0000302789"	"00301664"	"1"	"01807"	"01807"	"2020-05-20 08:47:01"	""	""	"SEQ"	"DNA"	""	""
"0000310811"	"00309666"	"1"	"01164"	"01164"	"2020-08-31 11:19:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000313112"	"00311940"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313113"	"00311941"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313114"	"00311942"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313115"	"00311943"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313116"	"00311944"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313117"	"00311945"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313118"	"00311946"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313119"	"00311947"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313120"	"00311948"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313121"	"00311949"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000313122"	"00311950"	"1"	"00006"	"00006"	"2020-09-30 10:22:10"	""	""	"SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000386680"	"00385451"	"1"	"00006"	"00006"	"2021-10-12 17:12:34"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000398889"	"00397651"	"1"	"01164"	"01164"	"2021-12-27 14:18:05"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000434962"	"00433507"	"1"	"01164"	"01164"	"2023-03-10 14:11:20"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000436642"	"00435169"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436643"	"00435170"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436644"	"00435171"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436645"	"00435172"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436646"	"00435173"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436647"	"00435174"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436648"	"00435175"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436649"	"00435176"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436650"	"00435177"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436651"	"00435178"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436652"	"00435179"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436653"	"00435180"	"1"	"00006"	"00006"	"2023-06-02 13:45:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436965"	"00435486"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436966"	"00435487"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436967"	"00435488"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436968"	"00435489"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436969"	"00435490"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436970"	"00435491"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436971"	"00435492"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436972"	"00435493"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436973"	"00435494"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436974"	"00435495"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436975"	"00435496"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436976"	"00435497"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436977"	"00435498"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436978"	"00435499"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436979"	"00435500"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436980"	"00435501"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436981"	"00435502"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436982"	"00435503"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436983"	"00435504"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436984"	"00435505"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436985"	"00435506"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436986"	"00435507"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436987"	"00435508"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436988"	"00435509"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436989"	"00435510"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436990"	"00435511"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436991"	"00435512"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436992"	"00435513"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436993"	"00435514"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436994"	"00435515"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436995"	"00435516"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436996"	"00435517"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436997"	"00435518"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436998"	"00435519"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000436999"	"00435520"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437000"	"00435521"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437001"	"00435522"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437002"	"00435523"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437003"	"00435524"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437004"	"00435525"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437005"	"00435526"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437006"	"00435527"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437007"	"00435528"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437008"	"00435529"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437009"	"00435530"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437010"	"00435531"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437011"	"00435532"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437012"	"00435533"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437013"	"00435534"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437014"	"00435535"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437015"	"00435536"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437016"	"00435537"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437017"	"00435538"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437018"	"00435539"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437019"	"00435540"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437020"	"00435541"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437021"	"00435542"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437022"	"00435543"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437023"	"00435544"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437024"	"00435545"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437025"	"00435546"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437026"	"00435547"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437027"	"00435548"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437028"	"00435549"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437029"	"00435550"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437030"	"00435551"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437031"	"00435552"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437032"	"00435553"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437033"	"00435554"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437034"	"00435555"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437035"	"00435556"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437036"	"00435557"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437037"	"00435558"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437038"	"00435559"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437039"	"00435560"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437040"	"00435561"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437041"	"00435562"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437042"	"00435563"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437043"	"00435564"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437044"	"00435565"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437045"	"00435566"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437046"	"00435567"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437047"	"00435568"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437048"	"00435569"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437049"	"00435570"	"1"	"00006"	"00006"	"2023-08-03 13:47:25"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459423"	"00457803"	"1"	"03544"	"03544"	"2024-11-19 13:53:42"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 14
"{{screeningid}}"	"{{geneid}}"
"0000313112"	"KDM6B"
"0000313113"	"KDM6B"
"0000313114"	"KDM6B"
"0000313115"	"KDM6B"
"0000313116"	"KDM6B"
"0000313117"	"KDM6B"
"0000313118"	"KDM6B"
"0000313119"	"KDM6B"
"0000313120"	"KDM6B"
"0000313121"	"KDM6B"
"0000313122"	"KDM6B"
"0000386680"	"TAB2"
"0000398889"	"KDM6B"
"0000434962"	"KDM6B"


## 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 = 251
"{{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}}"
"0000281772"	"0"	"10"	"17"	"7750847"	"7750847"	"subst"	"0.360133"	"02325"	"KDM6B_000017"	"g.7750847T>C"	""	""	""	"KDM6B(NM_001080424.2):c.1258-17T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7847529T>C"	""	"benign"	""
"0000281773"	"0"	"10"	"17"	"7751778"	"7751778"	"subst"	"0.174655"	"02325"	"KDM6B_000019"	"g.7751778G>A"	""	""	""	"KDM6B(NM_001080424.2):c.2172G>A (p.P724=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7848460G>A"	""	"benign"	""
"0000281774"	"0"	"10"	"17"	"7750232"	"7750232"	"subst"	"0.310688"	"02325"	"KDM6B_000015"	"g.7750232T>C"	""	""	""	"KDM6B(NM_001080424.2):c.807T>C (p.A269=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7846914T>C"	""	"benign"	""
"0000290154"	"0"	"50"	"17"	"7750598"	"7750601"	"del"	"0"	"01943"	"KDM6B_000016"	"g.7750598_7750601del"	""	""	""	"KDM6B(NM_001080424.2):c.1085_1088delAGAG (p.E362Afs*124)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7847280_7847283del"	""	"VUS"	""
"0000290155"	"0"	"30"	"17"	"7749217"	"7749217"	"subst"	"0.000641692"	"01943"	"KDM6B_000001"	"g.7749217G>A"	""	""	""	"KDM6B(NM_001080424.2):c.165G>A (p.P55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7845899G>A"	""	"likely benign"	""
"0000290156"	"0"	"50"	"17"	"7755271"	"7755271"	"subst"	"0"	"01943"	"KDM6B_000022"	"g.7755271C>T"	""	""	""	"KDM6B(NM_001080424.2):c.4168C>T (p.H1390Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7851953C>T"	""	"VUS"	""
"0000290157"	"0"	"50"	"17"	"7749604"	"7749604"	"subst"	"0"	"01943"	"KDM6B_000002"	"g.7749604C>T"	""	""	""	"KDM6B(NM_001080424.2):c.445C>T (p.R149*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7846286C>T"	""	"VUS"	""
"0000290158"	"0"	"30"	"17"	"7749972"	"7749972"	"subst"	"0.00412085"	"01943"	"KDM6B_000004"	"g.7749972G>T"	""	""	""	"KDM6B(NM_001080424.1):c.625G>T (p.(Val209Leu)), KDM6B(NM_001080424.2):c.625G>T (p.V209L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7846654G>T"	""	"likely benign"	""
"0000290159"	"0"	"10"	"17"	"7750208"	"7750216"	"del"	"0"	"01943"	"KDM6B_000010"	"g.7750208_7750216del"	""	""	""	"KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7846890_7846898del"	""	"benign"	""
"0000290161"	"0"	"30"	"17"	"7750211"	"7750216"	"del"	"0"	"01943"	"KDM6B_000007"	"g.7750211_7750216del"	""	""	""	"KDM6B(NM_001080424.1):c.756_761del (p.(Pro255_Pro256del)), KDM6B(NM_001080424.2):c.786_791delACCACC (p.P263_P264del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7846893_7846898del"	""	"likely benign"	""
"0000325166"	"0"	"50"	"17"	"7750211"	"7750216"	"dup"	"0"	"01804"	"KDM6B_000008"	"g.7750211_7750216dup"	""	""	""	"KDM6B(NM_001080424.1):c.753_758dup (p.(Pro252_Pro253insProPro)), KDM6B(NM_001080424.2):c.786_791dupACCACC (p.P263_P264dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7846893_7846898dup"	""	"VUS"	""
"0000325168"	"0"	"30"	"17"	"7750211"	"7750216"	"del"	"0"	"01804"	"KDM6B_000011"	"g.7750211_7750216del"	""	""	""	"KDM6B(NM_001080424.1):c.756_761del (p.(Pro255_Pro256del)), KDM6B(NM_001080424.2):c.786_791delACCACC (p.P263_P264del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7846893_7846898del"	""	"likely benign"	""
"0000325170"	"0"	"50"	"17"	"7752332"	"7752332"	"subst"	"0.000598724"	"01804"	"KDM6B_000021"	"g.7752332C>A"	""	""	""	"KDM6B(NM_001080424.1):c.2726C>A (p.(Ser909Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7849014C>A"	""	"VUS"	""
"0000325171"	"0"	"50"	"17"	"7762832"	"7762832"	"subst"	"0.00181914"	"01804"	"CYB5D1_000001"	"g.7762832C>T"	""	""	""	"CYB5D1(NM_144607.4):c.589C>T (p.(Arg197Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.7859514C>T"	""	"VUS"	""
"0000563320"	"0"	"30"	"17"	"7748211"	"7748211"	"subst"	"0"	"01943"	"KDM6B_000023"	"g.7748211C>T"	""	""	""	"KDM6B(NM_001080424.2):c.-268-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7844893C>T"	""	"likely benign"	""
"0000563322"	"0"	"30"	"17"	"7749710"	"7749710"	"subst"	"0"	"01804"	"KDM6B_000025"	"g.7749710A>C"	""	""	""	"KDM6B(NM_001080424.1):c.457-8A>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846392A>C"	""	"likely benign"	""
"0000563323"	"0"	"30"	"17"	"7749716"	"7749716"	"subst"	"0"	"01804"	"KDM6B_000003"	"g.7749716A>C"	""	""	""	"KDM6B(NM_001080424.1):c.457-2A>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846398A>C"	""	"likely benign"	""
"0000563324"	"0"	"30"	"17"	"7749716"	"7749718"	"del"	"0"	"01804"	"KDM6B_000026"	"g.7749716_7749718del"	""	""	""	"KDM6B(NM_001080424.1):c.457-2_457del (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846398_7846400del"	""	"likely benign"	""
"0000563325"	"0"	"30"	"17"	"7749762"	"7749762"	"subst"	"4.88412E-5"	"01943"	"KDM6B_000027"	"g.7749762C>G"	""	""	""	"KDM6B(NM_001080424.2):c.501C>G (p.A167=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846444C>G"	""	"likely benign"	""
"0000563326"	"0"	"50"	"17"	"7749922"	"7749922"	"subst"	"4.06507E-6"	"01943"	"KDM6B_000028"	"g.7749922G>C"	""	""	""	"KDM6B(NM_001080424.2):c.575G>C (p.R192P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846604G>C"	""	"VUS"	""
"0000563327"	"0"	"30"	"17"	"7749954"	"7749954"	"subst"	"0.0421638"	"01804"	"KDM6B_000029"	"g.7749954C>G"	""	""	""	"KDM6B(NM_001080424.1):c.607C>G (p.(Pro203Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846636C>G"	""	"likely benign"	""
"0000563328"	"0"	"30"	"17"	"7749972"	"7749972"	"subst"	"0.00412085"	"01804"	"KDM6B_000004"	"g.7749972G>T"	""	""	""	"KDM6B(NM_001080424.1):c.625G>T (p.(Val209Leu)), KDM6B(NM_001080424.2):c.625G>T (p.V209L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846654G>T"	""	"likely benign"	""
"0000563333"	"0"	"10"	"17"	"7750208"	"7750216"	"dup"	"0"	"01943"	"KDM6B_000009"	"g.7750208_7750216dup"	""	""	""	"KDM6B(NM_001080424.1):c.752_753insACCACCACC (p.(Leu251_Pro252insProProPro)), KDM6B(NM_001080424.2):c.783_791dupACCACCACC (p.P262_P264dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846890_7846898dup"	""	"benign"	""
"0000563335"	"0"	"10"	"17"	"7750211"	"7750216"	"dup"	"0"	"01943"	"KDM6B_000033"	"g.7750211_7750216dup"	""	""	""	"KDM6B(NM_001080424.1):c.753_758dup (p.(Pro252_Pro253insProPro)), KDM6B(NM_001080424.2):c.786_791dupACCACC (p.P263_P264dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846893_7846898dup"	""	"benign"	""
"0000563338"	"0"	"30"	"17"	"7750214"	"7750216"	"del"	"0"	"01804"	"KDM6B_000035"	"g.7750214_7750216del"	""	""	""	"KDM6B(NM_001080424.1):c.753_755del (p.(Pro253del)), KDM6B(NM_001080424.2):c.789_791delACC (p.P264del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846896_7846898del"	""	"likely benign"	""
"0000563340"	"0"	"10"	"17"	"7750214"	"7750216"	"dup"	"0"	"01943"	"KDM6B_000036"	"g.7750214_7750216dup"	""	""	""	"KDM6B(NM_001080424.1):c.752_753insACC (p.(Leu251_Pro252insPro)), KDM6B(NM_001080424.2):c.789_791dupACC (p.P264dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846896_7846898dup"	""	"benign"	""
"0000563343"	"0"	"30"	"17"	"7750532"	"7750532"	"subst"	"0.00780812"	"01804"	"KDM6B_000039"	"g.7750532G>C"	""	""	""	"KDM6B(NM_001080424.1):c.1019G>C (p.(Arg340Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7847214G>C"	""	"likely benign"	""
"0000563344"	"0"	"30"	"17"	"7750748"	"7750748"	"subst"	"2.07595E-5"	"01804"	"KDM6B_000040"	"g.7750748G>T"	""	""	""	"KDM6B(NM_001080424.1):c.1235G>T (p.(Gly412Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7847430G>T"	""	"likely benign"	""
"0000563345"	"0"	"30"	"17"	"7750936"	"7750936"	"subst"	"0.0365893"	"01804"	"KDM6B_000041"	"g.7750936A>G"	""	""	""	"KDM6B(NM_001080424.1):c.1330A>G (p.(Ser444Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7847618A>G"	""	"likely benign"	""
"0000563347"	"0"	"10"	"17"	"7751144"	"7751144"	"subst"	"0"	"01943"	"KDM6B_000043"	"g.7751144G>C"	""	""	""	"KDM6B(NM_001080424.1):c.1538G>C (p.(Arg513Pro)), KDM6B(NM_001080424.2):c.1538G>C (p.R513P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7847826G>C"	""	"benign"	""
"0000563348"	"0"	"30"	"17"	"7751144"	"7751144"	"subst"	"0"	"01804"	"KDM6B_000043"	"g.7751144G>C"	""	""	""	"KDM6B(NM_001080424.1):c.1538G>C (p.(Arg513Pro)), KDM6B(NM_001080424.2):c.1538G>C (p.R513P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7847826G>C"	""	"likely benign"	""
"0000563349"	"0"	"30"	"17"	"7751149"	"7751149"	"subst"	"0"	"01804"	"KDM6B_000044"	"g.7751149G>C"	""	""	""	"KDM6B(NM_001080424.1):c.1543G>C (p.(Ala515Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7847831G>C"	""	"likely benign"	""
"0000563350"	"0"	"30"	"17"	"7751162"	"7751162"	"subst"	"0"	"01804"	"KDM6B_000045"	"g.7751162T>C"	""	""	""	"KDM6B(NM_001080424.1):c.1556T>C (p.(Leu519Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7847844T>C"	""	"likely benign"	""
"0000563352"	"0"	"30"	"17"	"7751531"	"7751531"	"subst"	"0.00393126"	"01804"	"KDM6B_000047"	"g.7751531C>T"	""	""	""	"KDM6B(NM_001080424.1):c.1925C>T (p.(Pro642Leu)), KDM6B(NM_001080424.2):c.1925C>T (p.P642L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848213C>T"	""	"likely benign"	""
"0000563353"	"0"	"30"	"17"	"7751780"	"7751780"	"subst"	"2.04355E-5"	"01804"	"KDM6B_000048"	"g.7751780T>C"	""	""	""	"KDM6B(NM_001080424.1):c.2174T>C (p.(Leu725Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848462T>C"	""	"likely benign"	""
"0000563354"	"0"	"30"	"17"	"7751883"	"7751891"	"del"	"0"	"01804"	"KDM6B_000049"	"g.7751883_7751891del"	""	""	""	"KDM6B(NM_001080424.1):c.2253_2261del (p.(Thr755_Thr757del)), KDM6B(NM_001080424.2):c.2277_2285delCACCACCAC (p.T760_T762del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848565_7848573del"	""	"likely benign"	""
"0000563355"	"0"	"30"	"17"	"7751886"	"7751891"	"del"	"0"	"01804"	"KDM6B_000050"	"g.7751886_7751891del"	""	""	""	"KDM6B(NM_001080424.1):c.2256_2261del (p.(Thr755_Thr756del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848568_7848573del"	""	"likely benign"	""
"0000563356"	"0"	"30"	"17"	"7751889"	"7751891"	"del"	"0"	"01804"	"KDM6B_000020"	"g.7751889_7751891del"	""	""	""	"KDM6B(NM_001080424.1):c.2256_2258del (p.(Thr754del)), KDM6B(NM_001080424.2):c.2283_2285delCAC (p.T762del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848571_7848573del"	""	"likely benign"	""
"0000563357"	"0"	"30"	"17"	"7752206"	"7752206"	"subst"	"2.11899E-5"	"01804"	"KDM6B_000051"	"g.7752206C>T"	""	""	""	"KDM6B(NM_001080424.1):c.2600C>T (p.(Ser867Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848888C>T"	""	"likely benign"	""
"0000563358"	"0"	"30"	"17"	"7752258"	"7752258"	"subst"	"0.000450115"	"01943"	"KDM6B_000052"	"g.7752258G>A"	""	""	""	"KDM6B(NM_001080424.2):c.2652G>A (p.A884=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848940G>A"	""	"likely benign"	""
"0000563359"	"0"	"30"	"17"	"7752262"	"7752262"	"subst"	"0"	"01943"	"KDM6B_000053"	"g.7752262G>A"	""	""	""	"KDM6B(NM_001080424.2):c.2656G>A (p.E886K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848944G>A"	""	"likely benign"	""
"0000563360"	"0"	"30"	"17"	"7752283"	"7752283"	"subst"	"0"	"01804"	"KDM6B_000054"	"g.7752283A>C"	""	""	""	"KDM6B(NM_001080424.1):c.2677A>C (p.(Met893Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848965A>C"	""	"likely benign"	""
"0000563361"	"0"	"30"	"17"	"7752286"	"7752286"	"subst"	"0"	"01804"	"KDM6B_000055"	"g.7752286A>T"	""	""	""	"KDM6B(NM_001080424.1):c.2680A>T (p.(Thr894Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848968A>T"	""	"likely benign"	""
"0000563362"	"0"	"30"	"17"	"7752291"	"7752291"	"dup"	"0"	"01804"	"KDM6B_000056"	"g.7752291dup"	""	""	""	"KDM6B(NM_001080424.1):c.2685dup (p.(Thr896HisfsTer15))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848973dup"	""	"likely benign"	""
"0000563363"	"0"	"30"	"17"	"7752292"	"7752292"	"subst"	"0"	"01804"	"KDM6B_000057"	"g.7752292A>C"	""	""	""	"KDM6B(NM_001080424.1):c.2686A>C (p.(Thr896Pro)), KDM6B(NM_001080424.2):c.2686A>C (p.T896P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848974A>C"	""	"likely benign"	""
"0000563364"	"0"	"30"	"17"	"7752292"	"7752292"	"del"	"0"	"01804"	"KDM6B_000058"	"g.7752292del"	""	""	""	"KDM6B(NM_001080424.1):c.2686del (p.(Thr896ProfsTer19))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848974del"	""	"likely benign"	""
"0000563365"	"0"	"30"	"17"	"7752296"	"7752296"	"subst"	"0"	"01804"	"KDM6B_000059"	"g.7752296A>C"	""	""	""	"KDM6B(NM_001080424.1):c.2690A>C (p.(Gln897Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848978A>C"	""	"likely benign"	""
"0000563366"	"0"	"30"	"17"	"7752296"	"7752297"	"del"	"0"	"01804"	"KDM6B_000060"	"g.7752296_7752297del"	""	""	""	"KDM6B(NM_001080424.1):c.2690_2691del (p.(Gln897ProfsTer13))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848978_7848979del"	""	"likely benign"	""
"0000563367"	"0"	"30"	"17"	"7752306"	"7752306"	"del"	"4.91077E-6"	"01804"	"KDM6B_000061"	"g.7752306del"	""	""	""	"KDM6B(NM_001080424.1):c.2700del (p.(Leu902TyrfsTer13))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848988del"	""	"likely benign"	""
"0000563368"	"0"	"30"	"17"	"7752307"	"7752307"	"subst"	"0.000111113"	"01804"	"KDM6B_000062"	"g.7752307C>T"	""	""	""	"KDM6B(NM_001080424.1):c.2701C>T (p.(Pro901Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7848989C>T"	""	"likely benign"	""
"0000563371"	"0"	"50"	"17"	"7752324"	"7752324"	"del"	"0"	"01943"	"KDM6B_000065"	"g.7752324del"	""	""	""	"KDM6B(NM_001080424.2):c.2718delT (p.A907Lfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7849006del"	""	"VUS"	""
"0000563372"	"0"	"30"	"17"	"7752544"	"7752546"	"del"	"0.000685677"	"01804"	"KDM6B_000066"	"g.7752544_7752546del"	""	""	""	"KDM6B(NM_001080424.1):c.2938_2940del (p.(Gln980del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7849226_7849228del"	""	"likely benign"	""
"0000563373"	"0"	"50"	"17"	"7753142"	"7753142"	"subst"	"0"	"01804"	"KDM6B_000067"	"g.7753142T>G"	""	""	""	"KDM6B(NM_001080424.1):c.3444T>G (p.(Asn1148Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7849824T>G"	""	"VUS"	""
"0000563374"	"0"	"10"	"17"	"7754993"	"7754993"	"subst"	"0.381389"	"02325"	"KDM6B_000068"	"g.7754993G>A"	""	""	""	"KDM6B(NM_001080424.2):c.4044G>A (p.L1348=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7851675G>A"	""	"benign"	""
"0000563375"	"0"	"30"	"17"	"7755291"	"7755291"	"subst"	"4.87789E-5"	"01943"	"CYB5D1_000002"	"g.7755291C>T"	""	""	""	"KDM6B(NM_001080424.2):c.4188C>T (p.F1396=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7851973C>T"	""	"likely benign"	""
"0000563376"	"0"	"50"	"17"	"7755934"	"7755934"	"del"	"0"	"02329"	"CYB5D1_000003"	"g.7755934del"	""	""	""	"KDM6B(NM_001080424.2):c.4590delC (p.D1531Tfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7852616del"	""	"VUS"	""
"0000563377"	"0"	"30"	"17"	"7758411"	"7758411"	"subst"	"0.000761589"	"01804"	"CYB5D1_000004"	"g.7758411G>C"	""	""	""	"TMEM88(NM_203411.1):c.19G>C (p.(Ala7Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7855093G>C"	""	"likely benign"	""
"0000616866"	"0"	"50"	"17"	"7750001"	"7750002"	"del"	"0"	"02327"	"KDM6B_000069"	"g.7750001_7750002del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846683_7846684del"	""	"VUS"	""
"0000616867"	"0"	"30"	"17"	"7750208"	"7750216"	"dup"	"0"	"01804"	"KDM6B_000009"	"g.7750208_7750216dup"	""	""	""	"KDM6B(NM_001080424.1):c.752_753insACCACCACC (p.(Leu251_Pro252insProProPro)), KDM6B(NM_001080424.2):c.783_791dupACCACCACC (p.P262_P264dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846890_7846898dup"	""	"likely benign"	""
"0000616868"	"0"	"30"	"17"	"7750213"	"7750218"	"dup"	"0"	"01804"	"KDM6B_000070"	"g.7750213_7750218dup"	""	""	""	"KDM6B(NM_001080424.1):c.786_787insCCACCC (p.(Pro261_Pro262dup)), KDM6B(NM_001080424.2):c.788_793dupCACCCC (p.P263_P264dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846895_7846900dup"	""	"likely benign"	""
"0000616869"	"0"	"30"	"17"	"7750214"	"7750216"	"dup"	"0"	"01804"	"KDM6B_000036"	"g.7750214_7750216dup"	""	""	""	"KDM6B(NM_001080424.1):c.752_753insACC (p.(Leu251_Pro252insPro)), KDM6B(NM_001080424.2):c.789_791dupACC (p.P264dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7846896_7846898dup"	""	"likely benign"	""
"0000623778"	"0"	"50"	"17"	"7755305"	"7755307"	"del"	"0"	"02329"	"CYB5D1_000006"	"g.7755305_7755307del"	""	""	""	"KDM6B(NM_001080424.2):c.4202_4204delTCA (p.I1401del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7851987_7851989del"	""	"VUS"	""
"0000658282"	"0"	"50"	"17"	"7755296"	"7755296"	"subst"	"0"	"02327"	"CYB5D1_000007"	"g.7755296C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.7851978C>A"	""	"VUS"	""
"0000666141"	"0"	"90"	"17"	"7751022"	"7751023"	"del"	"0"	"01807"	"KDM6B_000071"	"g.7751022_7751023del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.7847704_7847705del"	""	"pathogenic"	""
"0000666143"	"0"	"90"	"17"	"7754969"	"7754970"	"delins"	"0"	"01807"	"KDM6B_000072"	"g.7754969_7754970delinsAT"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.7851651_7851652delinsAT"	""	"pathogenic"	""
"0000681048"	"0"	"30"	"17"	"7750213"	"7750218"	"dup"	"0"	"02325"	"KDM6B_000070"	"g.7750213_7750218dup"	""	""	""	"KDM6B(NM_001080424.1):c.786_787insCCACCC (p.(Pro261_Pro262dup)), KDM6B(NM_001080424.2):c.788_793dupCACCCC (p.P263_P264dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681049"	"0"	"90"	"17"	"7750742"	"7750746"	"dup"	"0"	"02327"	"KDM6B_000073"	"g.7750742_7750746dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000681050"	"0"	"30"	"17"	"7751168"	"7751168"	"subst"	"0"	"01943"	"KDM6B_000074"	"g.7751168A>C"	""	""	""	"KDM6B(NM_001080424.2):c.1562A>C (p.H521P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681051"	"0"	"30"	"17"	"7752509"	"7752509"	"subst"	"0.000574105"	"01943"	"KDM6B_000075"	"g.7752509T>G"	""	""	""	"KDM6B(NM_001080424.2):c.2903T>G (p.V968G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000685829"	"0"	"70"	"17"	"7753424"	"7753425"	"ins"	"0"	"01164"	"KDM6B_000076"	"g.7753424_7753425insA"	""	""	""	""	"ACMG grading: PVS1,PM2\r\n7y old male patient"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000692491"	"0"	"30"	"17"	"7749914"	"7749914"	"subst"	"0.000117912"	"01943"	"KDM6B_000077"	"g.7749914A>G"	""	""	""	"KDM6B(NM_001080424.2):c.567A>G (p.G189=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692492"	"0"	"10"	"17"	"7750208"	"7750216"	"del"	"0"	"02325"	"KDM6B_000010"	"g.7750208_7750216del"	""	""	""	"KDM6B(NM_001080424.2):c.783_791delACCACCACC (p.P262_P264del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000692493"	"0"	"50"	"17"	"7750573"	"7750573"	"subst"	"3.42029E-5"	"01943"	"KDM6B_000078"	"g.7750573C>T"	""	""	""	"KDM6B(NM_001080424.2):c.1060C>T (p.R354C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692494"	"0"	"30"	"17"	"7751531"	"7751531"	"subst"	"0.00393126"	"01943"	"KDM6B_000047"	"g.7751531C>T"	""	""	""	"KDM6B(NM_001080424.1):c.1925C>T (p.(Pro642Leu)), KDM6B(NM_001080424.2):c.1925C>T (p.P642L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692495"	"0"	"70"	"17"	"7751602"	"7751602"	"subst"	"0"	"02327"	"KDM6B_000079"	"g.7751602C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000692496"	"0"	"30"	"17"	"7751889"	"7751891"	"dup"	"0"	"02325"	"KDM6B_000080"	"g.7751889_7751891dup"	""	""	""	"KDM6B(NM_001080424.2):c.2283_2285dupCAC (p.T762dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692497"	"0"	"30"	"17"	"7752300"	"7752300"	"subst"	"0"	"01943"	"KDM6B_000081"	"g.7752300G>C"	""	""	""	"KDM6B(NM_001080424.2):c.2694G>C (p.P898=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692498"	"0"	"30"	"17"	"7752322"	"7752322"	"subst"	"0.000640211"	"01943"	"KDM6B_000082"	"g.7752322C>G"	""	""	""	"KDM6B(NM_001080424.2):c.2716C>G (p.P906A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000694846"	"3"	"10"	"17"	"7749972"	"7749972"	"subst"	"0.00412085"	"00006"	"KDM6B_000004"	"g.7749972G>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	"no possible causative variants identified in other genes"	"Germline"	""	""	"0"	""	""	"g.7846654G>T"	""	"benign"	"ACMG"
"0000694847"	"3"	"10"	"17"	"7750214"	"7750216"	"del"	"0"	"00006"	"KDM6B_000035"	"g.7750214_7750216del"	""	"{PMID:Faundes 2018:29276005}"	""	"759_761delACC"	"causative variant identified in FLNA"	"Germline"	""	""	"0"	""	""	"g.7846896_7846898del"	""	"benign"	"ACMG"
"0000694848"	"21"	"50"	"17"	"7751240"	"7751240"	"subst"	"0"	"00006"	"KDM6B_000083"	"g.7751240C>A"	""	"{PMID:Faundes 2018:29276005}"	""	""	"causative variant identified in NFIX"	"Germline"	""	""	"0"	""	""	"g.7847922C>A"	""	"VUS"	"ACMG"
"0000694849"	"11"	"10"	"17"	"7751531"	"7751531"	"subst"	"0.00393126"	"00006"	"KDM6B_000047"	"g.7751531C>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	"causative variant identified in NFIX"	"Germline"	""	""	"0"	""	""	"g.7848213C>T"	""	"benign"	"ACMG"
"0000694850"	"11"	"50"	"17"	"7751576"	"7751576"	"subst"	"0.000581661"	"00006"	"KDM6B_000084"	"g.7751576C>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	"possible causative variant identified in ATRX"	"Germline"	""	""	"0"	""	""	"g.7848258C>T"	""	"VUS"	"ACMG"
"0000694851"	"11"	"50"	"17"	"7751603"	"7751603"	"subst"	"4.54726E-5"	"00006"	"KDM6B_000085"	"g.7751603G>A"	""	"{PMID:Faundes 2018:29276005}"	""	""	"causative variant identified in CRYBB1"	"Germline"	""	""	"0"	""	""	"g.7848285G>A"	""	"VUS"	"ACMG"
"0000694852"	"3"	"10"	"17"	"7751889"	"7751891"	"dup"	"0"	"00006"	"KDM6B_000080"	"g.7751889_7751891dup"	""	"{PMID:Faundes 2018:29276005}"	""	"2268_2270insCAC"	"possible causative variant identified in RRM2"	"Germline"	""	""	"0"	""	""	"g.7848571_7848573dup"	""	"benign"	"ACMG"
"0000694853"	"21"	"50"	"17"	"7752229"	"7752229"	"subst"	"3.90334E-5"	"00006"	"KDM6B_000086"	"g.7752229G>A"	""	"{PMID:Faundes 2018:29276005}"	""	""	"possible causative variant identified in RERE"	"Germline"	""	""	"0"	""	""	"g.7848911G>A"	""	"VUS"	"ACMG"
"0000694854"	"11"	"50"	"17"	"7752280"	"7752280"	"subst"	"0"	"00006"	"KDM6B_000087"	"g.7752280C>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	"possible causative variant identified in ERMARD"	"Germline"	""	""	"0"	""	""	"g.7848962C>T"	""	"VUS"	"ACMG"
"0000694855"	"21"	"30"	"17"	"7752332"	"7752332"	"subst"	"0.000598724"	"00006"	"KDM6B_000021"	"g.7752332C>A"	""	"{PMID:Faundes 2018:29276005}"	""	""	"possible causative variant identified in ATRX"	"Germline"	""	""	"0"	""	""	"g.7849014C>A"	""	"likely benign"	"ACMG"
"0000694856"	"3"	"50"	"17"	"7752825"	"7752825"	"subst"	"5.3711E-5"	"00006"	"KDM6B_000088"	"g.7752825G>T"	""	"{PMID:Faundes 2018:29276005}"	""	""	"no possible causative variants identified in other genes"	"Germline"	""	""	"0"	""	""	"g.7849507G>T"	""	"VUS"	"ACMG"
"0000726726"	"0"	"30"	"17"	"7749816"	"7749816"	"subst"	"4.87813E-5"	"01943"	"KDM6B_000089"	"g.7749816G>C"	""	""	""	"KDM6B(NM_001080424.2):c.549+6G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726727"	"0"	"90"	"17"	"7751058"	"7751058"	"del"	"0"	"01943"	"KDM6B_000090"	"g.7751058del"	""	""	""	"KDM6B(NM_001080424.2):c.1452delC (p.W485Gfs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000726728"	"0"	"30"	"17"	"7751889"	"7751891"	"del"	"0"	"02325"	"KDM6B_000020"	"g.7751889_7751891del"	""	""	""	"KDM6B(NM_001080424.1):c.2256_2258del (p.(Thr754del)), KDM6B(NM_001080424.2):c.2283_2285delCAC (p.T762del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726729"	"0"	"30"	"17"	"7752292"	"7752292"	"subst"	"0"	"01943"	"KDM6B_000057"	"g.7752292A>C"	""	""	""	"KDM6B(NM_001080424.1):c.2686A>C (p.(Thr896Pro)), KDM6B(NM_001080424.2):c.2686A>C (p.T896P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000814360"	"0"	"50"	"17"	"7750178"	"7750186"	"delins"	"0"	"00006"	"KDM6B_000008"	"g.7750178_7750186delinsACCACCACCACCACC"	""	"{PMID:Ackerman 2016:27452334}"	""	"753_761delinsACCACCACCACCACC"	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	""
"0000831170"	"0"	"70"	"17"	"7748903"	"7748903"	"del"	"0"	"01164"	"KDM6B_000091"	"g.7748903del"	""	""	""	""	"ACMG: PVS1, PM2_SUP"	"Germline"	"?"	""	"0"	""	""	"g.7845585del"	""	"likely pathogenic (dominant)"	"ACMG"
"0000831171"	"0"	"30"	"17"	"7756669"	"7756669"	"subst"	"0"	"01164"	"KDM6B_000092"	"g.7756669C>G"	""	""	""	""	"ACMG: BP2, BP4"	"Germline"	"?"	""	""	""	""	""	""	"likely benign (dominant)"	"ACMG"
"0000855133"	"0"	"10"	"17"	"7750214"	"7750216"	"del"	"0"	"01943"	"KDM6B_000035"	"g.7750214_7750216del"	""	""	""	"KDM6B(NM_001080424.1):c.753_755del (p.(Pro253del)), KDM6B(NM_001080424.2):c.789_791delACC (p.P264del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000855134"	"0"	"30"	"17"	"7751883"	"7751891"	"del"	"0"	"02325"	"KDM6B_000049"	"g.7751883_7751891del"	""	""	""	"KDM6B(NM_001080424.1):c.2253_2261del (p.(Thr755_Thr757del)), KDM6B(NM_001080424.2):c.2277_2285delCACCACCAC (p.T760_T762del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855135"	"0"	"30"	"17"	"7752709"	"7752709"	"subst"	"0.000110139"	"02325"	"KDM6B_000094"	"g.7752709C>T"	""	""	""	"KDM6B(NM_001080424.2):c.3103C>T (p.R1035W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000865531"	"0"	"30"	"17"	"7751801"	"7751801"	"subst"	"2.45357E-5"	"02325"	"KDM6B_000093"	"g.7751801T>C"	""	""	""	"KDM6B(NM_001080424.2):c.2195T>C (p.L732P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894322"	"0"	"70"	"17"	"7750538"	"7750538"	"dup"	"0"	"02329"	"KDM6B_000095"	"g.7750538dup"	""	""	""	"KDM6B(NM_001080424.2):c.1025dupC (p.G343Rfs*17)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000914987"	"0"	"50"	"17"	"7750027"	"7750027"	"subst"	"0"	"02325"	"KDM6B_000096"	"g.7750027G>T"	""	""	""	"KDM6B(NM_001080424.2):c.680G>T (p.G227V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000920881"	"0"	"50"	"17"	"7756583"	"7756583"	"subst"	"0"	"01164"	"KDM6B_000097"	"g.7756583A>G"	""	""	""	""	"ACMG: PS2_MOD, PM2_SUP, confirmed de novo in trio-exome"	"De novo"	"-"	""	""	""	""	""	""	"VUS (!)"	"ACMG"
"0000926652"	"0"	"30"	"17"	"7752244"	"7752244"	"subst"	"0.000495417"	"02325"	"KDM6B_000098"	"g.7752244C>G"	""	""	""	"KDM6B(NM_001080424.1):c.2638C>G (p.(Arg880Gly)), KDM6B(NM_001080424.2):c.2638C>G (p.R880G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926653"	"0"	"50"	"17"	"7752650"	"7752650"	"subst"	"0"	"02325"	"KDM6B_000099"	"g.7752650G>A"	""	""	""	"KDM6B(NM_001080424.2):c.3044G>A (p.R1015H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000927714"	"0"	"70"	"17"	"7752857"	"7752867"	"delins"	"0"	"00006"	"KDM6B_000103"	"g.7752857_7752867delinsCCAG"	""	"{PMID:Stolerman 2019:31124279}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849539_7849549delinsCCAG"	""	"pathogenic (dominant)"	""
"0000927715"	"0"	"70"	"17"	"7755085"	"7755085"	"subst"	"0"	"00006"	"KDM6B_000108"	"g.7755085A>C"	""	"{PMID:Stolerman 2019:31124279}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851767A>C"	""	"pathogenic (dominant)"	""
"0000927716"	"0"	"70"	"17"	"7754843"	"7754843"	"subst"	"0"	"00006"	"KDM6B_000107"	"g.7754843A>G"	""	"{PMID:Stolerman 2019:31124279}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851525A>G"	""	"pathogenic (dominant)"	""
"0000927717"	"0"	"70"	"17"	"7754527"	"7754530"	"del"	"0"	"00006"	"KDM6B_000106"	"g.7754527_7754530del"	""	"{PMID:Stolerman 2019:31124279}"	""	"3862_3865delTTCC"	""	"De novo"	""	""	"0"	""	""	"g.7851209_7851212del"	""	"pathogenic (dominant)"	""
"0000927718"	"0"	"70"	"17"	"7752940"	"7752941"	"del"	"0"	"00006"	"KDM6B_000104"	"g.7752940_7752941del"	""	"{PMID:Stolerman 2019:31124279}"	""	"3334_3335delAG"	""	"De novo"	""	""	"0"	""	""	"g.7849622_7849623del"	""	"pathogenic (dominant)"	""
"0000927719"	"0"	"70"	"17"	"7752691"	"7752691"	"dup"	"0"	"00006"	"KDM6B_000102"	"g.7752691dup"	""	"{PMID:Stolerman 2019:31124279}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849373dup"	""	"pathogenic (dominant)"	""
"0000927720"	"0"	"70"	"17"	"7754395"	"7754395"	"subst"	"0"	"00006"	"KDM6B_000105"	"g.7754395G>T"	""	"{PMID:Stolerman 2019:31124279}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7851077G>T"	""	"pathogenic (dominant)"	""
"0000927721"	"0"	"70"	"17"	"7749277"	"7749277"	"subst"	"0"	"00006"	"KDM6B_000100"	"g.7749277T>A"	""	"{PMID:Stolerman 2019:31124279}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7845959T>A"	""	"pathogenic (dominant)"	""
"0000927722"	"0"	"70"	"17"	"7752290"	"7752291"	"del"	"0"	"00006"	"KDM6B_000101"	"g.7752290_7752291del"	""	"{PMID:Stolerman 2019:31124279}"	""	"2684delCC"	""	"De novo"	""	""	"0"	""	""	"g.7848972_7848973del"	""	"pathogenic (dominant)"	""
"0000927723"	"0"	"70"	"17"	"7755934"	"7755934"	"del"	"0"	"00006"	"CYB5D1_000003"	"g.7755934del"	""	"{PMID:Stolerman 2019:31124279}"	""	"4590delC"	""	"De novo"	""	""	"0"	""	""	"g.7852616del"	""	"pathogenic (dominant)"	""
"0000927724"	"0"	"70"	"17"	"7749604"	"7749604"	"subst"	"0"	"00006"	"KDM6B_000002"	"g.7749604C>T"	""	"{PMID:Stolerman 2019:31124279}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7846286C>T"	""	"pathogenic (dominant)"	""
"0000927725"	"0"	"70"	"17"	"7750598"	"7750601"	"del"	"0"	"00006"	"KDM6B_000016"	"g.7750598_7750601del"	""	"{PMID:Stolerman 2019:31124279}"	""	"1085_1088delAGAG"	""	"De novo"	""	""	"0"	""	""	"g.7847280_7847283del"	""	"pathogenic (dominant)"	""
"0000930899"	"0"	"50"	"17"	"7755543"	"7755543"	"subst"	"0"	"02327"	"CYB5D1_000008"	"g.7755543C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000931690"	"21"	"90"	"17"	"7750531"	"7750531"	"del"	"0"	"00006"	"KDM6B_000134"	"g.7750531del"	""	"{PMID:Rots 2023:37196654}"	""	"1014delC"	""	"De novo"	""	""	"0"	""	""	"g.7847213del"	""	"pathogenic (dominant)"	""
"0000931691"	"11"	"90"	"17"	"7750598"	"7750601"	"del"	"0"	"00006"	"KDM6B_000016"	"g.7750598_7750601del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.7847280_7847283del"	""	"pathogenic (dominant)"	""
"0000931692"	"0"	"90"	"17"	"7750001"	"7750002"	"del"	"0"	"00006"	"KDM6B_000069"	"g.7750001_7750002del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7846683_7846684del"	""	"pathogenic (dominant)"	""
"0000931693"	"0"	"90"	"17"	"7751045"	"7751045"	"dup"	"0"	"00006"	"KDM6B_000137"	"g.7751045dup"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7847727dup"	""	"pathogenic (dominant)"	""
"0000931694"	"0"	"90"	"17"	"7752204"	"7752204"	"del"	"0"	"00006"	"KDM6B_000146"	"g.7752204del"	""	"{PMID:Rots 2023:37196654}"	""	"2598delC"	""	"De novo"	""	""	"0"	""	""	"g.7848886del"	""	"pathogenic (dominant)"	""
"0000931695"	"0"	"90"	"17"	"7755844"	"7755844"	"subst"	"0"	"00006"	"KDM6B_000167"	"g.7755844C>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7852526C>A"	""	"pathogenic (dominant)"	""
"0000931696"	"0"	"90"	"17"	"7749562"	"7749562"	"subst"	"0"	"00006"	"KDM6B_000128"	"g.7749562C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7846244C>T"	""	"pathogenic (dominant)"	""
"0000931697"	"0"	"90"	"17"	"7756445"	"7756445"	"subst"	"0"	"00006"	"KDM6B_000170"	"g.7756445G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7853127G>A"	""	"pathogenic (dominant)"	""
"0000931698"	"0"	"90"	"17"	"7752894"	"7752897"	"del"	"0"	"00006"	"KDM6B_000156"	"g.7752894_7752897del"	""	"{PMID:Rots 2023:37196654}"	""	"3288_3291delTGAG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7849576_7849579del"	""	"pathogenic (dominant)"	""
"0000931699"	"0"	"90"	"17"	"7752894"	"7752897"	"del"	"0"	"00006"	"KDM6B_000156"	"g.7752894_7752897del"	""	"{PMID:Rots 2023:37196654}"	""	"3288_3291delTGAG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7849576_7849579del"	""	"pathogenic (dominant)"	""
"0000931700"	"0"	"90"	"17"	"7749562"	"7749562"	"subst"	"0"	"00006"	"KDM6B_000128"	"g.7749562C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7846244C>T"	""	"pathogenic (dominant)"	""
"0000931701"	"0"	"90"	"17"	"7749189"	"7749189"	"subst"	"0"	"00006"	"KDM6B_000125"	"g.7749189G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7845871G>A"	""	"pathogenic (dominant)"	""
"0000931702"	"0"	"90"	"17"	"7749784"	"7749784"	"subst"	"4.06511E-6"	"00006"	"KDM6B_000131"	"g.7749784C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	"father not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7846466C>T"	""	"pathogenic (dominant)"	""
"0000931703"	"0"	"90"	"17"	"7756440"	"7756440"	"del"	"0"	"00006"	"KDM6B_000169"	"g.7756440del"	""	"{PMID:Rots 2023:37196654}"	""	"4733delG"	""	"De novo"	""	""	"0"	""	""	"g.7853122del"	""	"pathogenic (dominant)"	""
"0000931704"	"21"	"90"	"17"	"7750598"	"7750601"	"del"	"0"	"00006"	"KDM6B_000016"	"g.7750598_7750601del"	""	"{PMID:Rots 2023:37196654}"	""	""	"affected mother/sister carry variant"	"Germline"	""	""	"0"	""	""	"g.7847280_7847283del"	""	"pathogenic (dominant)"	""
"0000931705"	"0"	"90"	"17"	"7749604"	"7749604"	"subst"	"0"	"00006"	"KDM6B_000002"	"g.7749604C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7846286C>T"	""	"pathogenic (dominant)"	""
"0000931706"	"0"	"90"	"17"	"7754679"	"7754680"	"del"	"0"	"00006"	"KDM6B_000161"	"g.7754679_7754680del"	""	"{PMID:Rots 2023:37196654}"	""	"3911_3912delAG"	""	"De novo"	""	""	"0"	""	""	"g.7851361_7851362del"	""	"pathogenic (dominant)"	""
"0000931707"	"0"	"90"	"17"	"7752178"	"7752178"	"subst"	"0"	"00006"	"KDM6B_000145"	"g.7752178C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7848860C>T"	""	"pathogenic (dominant)"	""
"0000931708"	"0"	"90"	"17"	"7752305"	"7752305"	"del"	"0"	"00006"	"KDM6B_000148"	"g.7752305del"	""	"{PMID:Rots 2023:37196654}"	""	"2699delC"	""	"De novo"	""	""	"0"	""	""	"g.7848987del"	""	"pathogenic (dominant)"	""
"0000931709"	"0"	"90"	"17"	"7751143"	"7751143"	"dup"	"0"	"00006"	"KDM6B_000139"	"g.7751143dup"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7847825dup"	""	"pathogenic (dominant)"	""
"0000931710"	"0"	"90"	"17"	"7754337"	"7754337"	"subst"	"0"	"00006"	"KDM6B_000160"	"g.7754337A>G"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7851019A>G"	""	"pathogenic (dominant)"	""
"0000931711"	"21"	"90"	"17"	"7750001"	"7750002"	"del"	"0"	"00006"	"KDM6B_000069"	"g.7750001_7750002del"	""	"{PMID:Rots 2023:37196654}"	""	"654_655delAG"	""	"Germline"	""	""	"0"	""	""	"g.7846683_7846684del"	""	"pathogenic (dominant)"	""
"0000931712"	"0"	"90"	"17"	"7752906"	"7752906"	"del"	"0"	"00006"	"KDM6B_000157"	"g.7752906del"	""	"{PMID:Rots 2023:37196654}"	""	"3295delC"	""	"De novo"	""	""	"0"	""	""	"g.7849588del"	""	"pathogenic (dominant)"	""
"0000931713"	"0"	"90"	"17"	"7752644"	"7752644"	"del"	"0"	"00006"	"KDM6B_000153"	"g.7752644del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849326del"	""	"pathogenic (dominant)"	""
"0000931714"	"0"	"90"	"17"	"7754713"	"7754713"	"subst"	"0"	"00006"	"KDM6B_000162"	"g.7754713G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7851395G>A"	""	"pathogenic (dominant)"	""
"0000931715"	"0"	"90"	"17"	"7750866"	"7750876"	"del"	"0"	"00006"	"KDM6B_000136"	"g.7750866_7750876del"	""	"{PMID:Rots 2023:37196654}"	""	"1258_1268del"	""	"De novo"	""	""	"0"	""	""	"g.7847548_7847558del"	""	"pathogenic (dominant)"	""
"0000931716"	"0"	"90"	"17"	"7749757"	"7749757"	"subst"	"0"	"00006"	"KDM6B_000130"	"g.7749757C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7846439C>T"	""	"pathogenic (dominant)"	""
"0000931717"	"11"	"90"	"17"	"7749578"	"7749578"	"dup"	"0"	"00006"	"KDM6B_000129"	"g.7749578dup"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.7846260dup"	""	"pathogenic (dominant)"	""
"0000931718"	"0"	"90"	"17"	"7752591"	"7752594"	"delins"	"0"	"00006"	"KDM6B_000152"	"g.7752591_7752594delinsGGGACAGTGCC"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849273_7849276delinsGGGACAGTGCC"	""	"pathogenic (dominant)"	""
"0000931719"	"0"	"90"	"17"	"7752296"	"7752309"	"del"	"0"	"00006"	"KDM6B_000147"	"g.7752296_7752309del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7848978_7848991del"	""	"pathogenic (dominant)"	""
"0000931720"	"0"	"90"	"17"	"7750742"	"7750746"	"dup"	"0"	"00006"	"KDM6B_000073"	"g.7750742_7750746dup"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7847424_7847428dup"	""	"pathogenic (dominant)"	""
"0000931721"	"0"	"90"	"17"	"7752529"	"7752529"	"subst"	"0"	"00006"	"KDM6B_000150"	"g.7752529C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849211C>T"	""	"pathogenic (dominant)"	""
"0000931722"	"0"	"90"	"17"	"7753233"	"7753233"	"dup"	"0"	"00006"	"KDM6B_000158"	"g.7753233dup"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849915dup"	""	"pathogenic (dominant)"	""
"0000931723"	"0"	"90"	"17"	"7753262"	"7753265"	"del"	"0"	"00006"	"KDM6B_000159"	"g.7753262_7753265del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849944_7849947del"	""	"pathogenic (dominant)"	""
"0000931724"	"0"	"90"	"17"	"7750032"	"7750032"	"subst"	"0"	"00006"	"KDM6B_000133"	"g.7750032C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7846714C>T"	""	"pathogenic (dominant)"	""
"0000931725"	"0"	"90"	"17"	"7752529"	"7752529"	"subst"	"0"	"00006"	"KDM6B_000150"	"g.7752529C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849211C>T"	""	"pathogenic (dominant)"	""
"0000931726"	"0"	"90"	"17"	"7751022"	"7751023"	"del"	"0"	"00006"	"KDM6B_000071"	"g.7751022_7751023del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7847704_7847705del"	""	"pathogenic (dominant)"	""
"0000931727"	"0"	"90"	"17"	"7756585"	"7756585"	"del"	"0"	"00006"	"KDM6B_000171"	"g.7756585del"	""	"{PMID:Rots 2023:37196654}"	""	"4794delC"	""	"De novo"	""	""	"0"	""	""	"g.7853267del"	""	"pathogenic (dominant)"	""
"0000931728"	"0"	"90"	"17"	"7751740"	"7751740"	"subst"	"0"	"00006"	"KDM6B_000143"	"g.7751740C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7848422C>T"	""	"pathogenic (dominant)"	""
"0000931729"	"0"	"90"	"17"	"7749925"	"7749925"	"del"	"0"	"00006"	"KDM6B_000132"	"g.7749925del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7846607del"	""	"pathogenic (dominant)"	""
"0000931730"	"0"	"90"	"17"	"7749188"	"7749188"	"subst"	"0"	"00006"	"KDM6B_000124"	"g.7749188A>G"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7845870A>G"	""	"pathogenic (dominant)"	""
"0000931731"	"0"	"90"	"17"	"7755659"	"7755659"	"subst"	"0"	"00006"	"KDM6B_000166"	"g.7755659G>C"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7852341G>C"	""	"pathogenic (dominant)"	""
"0000931732"	"0"	"90"	"17"	"7751731"	"7751731"	"subst"	"0"	"00006"	"KDM6B_000142"	"g.7751731G>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7848413G>T"	""	"pathogenic (dominant)"	""
"0000931733"	"0"	"90"	"17"	"7756415"	"7756415"	"subst"	"0"	"00006"	"KDM6B_000168"	"g.7756415G>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7853097G>T"	""	"pathogenic (dominant)"	""
"0000931734"	"21"	"90"	"17"	"7749502"	"7749502"	"subst"	"0"	"00006"	"KDM6B_000127"	"g.7749502C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.7846184C>T"	""	"pathogenic (dominant)"	""
"0000931735"	"0"	"90"	"17"	"7749562"	"7749562"	"subst"	"0"	"00006"	"KDM6B_000128"	"g.7749562C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7846244C>T"	""	"pathogenic (dominant)"	""
"0000931736"	"0"	"90"	"17"	"7751618"	"7751619"	"del"	"0"	"00006"	"KDM6B_000141"	"g.7751618_7751619del"	""	"{PMID:Rots 2023:37196654}"	""	"2011_2012del"	""	"De novo"	""	""	"0"	""	""	"g.7848300_7848301del"	""	"pathogenic (dominant)"	""
"0000931737"	"0"	"90"	"17"	"7755116"	"7755116"	"subst"	"0"	"00006"	"KDM6B_000163"	"g.7755116T>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7851798T>A"	""	"pathogenic (dominant)"	""
"0000931738"	"0"	"90"	"17"	"7752576"	"7752576"	"dup"	"0"	"00006"	"KDM6B_000151"	"g.7752576dup"	""	"{PMID:Rots 2023:37196654}"	""	"2970dupT"	""	"De novo"	""	""	"0"	""	""	"g.7849258dup"	""	"pathogenic (dominant)"	""
"0000931739"	"21"	"90"	"17"	"7751375"	"7751375"	"del"	"0"	"00006"	"KDM6B_000140"	"g.7751375del"	""	"{PMID:Rots 2023:37196654}"	""	"1769delC"	""	"Germline"	""	""	"0"	""	""	"g.7848057del"	""	"pathogenic (dominant)"	""
"0000931740"	"0"	"90"	"17"	"7751375"	"7751375"	"del"	"0"	"00006"	"KDM6B_000140"	"g.7751375del"	""	"{PMID:Rots 2023:37196654}"	""	"1769delC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7848057del"	""	"pathogenic (dominant)"	""
"0000931741"	"0"	"90"	"17"	"7750566"	"7750569"	"del"	"0"	"00006"	"KDM6B_000135"	"g.7750566_7750569del"	""	"{PMID:Rots 2023:37196654}"	""	"1044_1047del"	"father not available"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7847248_7847251del"	""	"pathogenic (dominant)"	""
"0000931742"	"0"	"90"	"17"	"7752054"	"7752054"	"subst"	"0"	"00006"	"KDM6B_000144"	"g.7752054C>G"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7848736C>G"	""	"pathogenic (dominant)"	""
"0000931743"	"0"	"90"	"17"	"7754969"	"7754970"	"delins"	"0"	"00006"	"KDM6B_000072"	"g.7754969_7754970delinsAT"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7851651_7851652delinsAT"	""	"pathogenic (dominant)"	""
"0000931744"	"11"	"90"	"17"	"7751022"	"7751023"	"del"	"0"	"00006"	"KDM6B_000071"	"g.7751022_7751023del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.7847704_7847705del"	""	"pathogenic (dominant)"	""
"0000931745"	"0"	"90"	"17"	"7751022"	"7751023"	"del"	"0"	"00006"	"KDM6B_000071"	"g.7751022_7751023del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7847704_7847705del"	""	"pathogenic (dominant)"	""
"0000931746"	"0"	"90"	"17"	"7752471"	"7752471"	"del"	"0"	"00006"	"KDM6B_000149"	"g.7752471del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7849153del"	""	"pathogenic (dominant)"	""
"0000931747"	"0"	"90"	"17"	"7755617"	"7755617"	"subst"	"0"	"00006"	"KDM6B_000165"	"g.7755617G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7852299G>A"	""	"pathogenic (dominant)"	""
"0000931748"	"0"	"90"	"17"	"7751089"	"7751089"	"subst"	"0"	"00006"	"KDM6B_000138"	"g.7751089C>T"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7847771C>T"	""	"pathogenic (dominant)"	""
"0000931749"	"0"	"90"	"17"	"7750598"	"7750601"	"del"	"0"	"00006"	"KDM6B_000016"	"g.7750598_7750601del"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7847280_7847283del"	""	"pathogenic (dominant)"	""
"0000931750"	"0"	"90"	"17"	"7752652"	"7752652"	"dup"	"0"	"00006"	"KDM6B_000154"	"g.7752652dup"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.7849334dup"	""	"pathogenic (dominant)"	""
"0000931751"	"11"	"90"	"17"	"7752887"	"7752887"	"subst"	"0"	"00006"	"KDM6B_000155"	"g.7752887C>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.7849569C>A"	""	"pathogenic (dominant)"	""
"0000931752"	"0"	"90"	"17"	"7752887"	"7752887"	"subst"	"0"	"00006"	"KDM6B_000155"	"g.7752887C>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7849569C>A"	""	"pathogenic (dominant)"	""
"0000931753"	"0"	"70"	"17"	"7756403"	"7756403"	"subst"	"0"	"00006"	"KDM6B_000116"	"g.7756403C>A"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7853085C>A"	""	"pathogenic (dominant)"	""
"0000931754"	"0"	"70"	"17"	"7754427"	"7754429"	"del"	"0"	"00006"	"KDM6B_000111"	"g.7754427_7754429del"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851109_7851111del"	""	"likely pathogenic (dominant)"	""
"0000931755"	"0"	"70"	"17"	"7755067"	"7755067"	"subst"	"0"	"00006"	"KDM6B_000112"	"g.7755067T>C"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851749T>C"	""	"likely pathogenic (dominant)"	""
"0000931756"	"0"	"70"	"17"	"7755296"	"7755296"	"subst"	"0"	"00006"	"CYB5D1_000007"	"g.7755296C>A"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851978C>A"	""	"likely pathogenic (dominant)"	""
"0000931757"	"0"	"70"	"17"	"7756431"	"7756431"	"subst"	"0"	"00006"	"KDM6B_000121"	"g.7756431G>C"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7853113G>C"	""	"pathogenic (dominant)"	""
"0000931758"	"0"	"70"	"17"	"7755277"	"7755277"	"subst"	"0"	"00006"	"KDM6B_000113"	"g.7755277G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851959G>A"	""	"likely pathogenic (dominant)"	""
"0000931759"	"0"	"70"	"17"	"7755289"	"7755289"	"subst"	"0"	"00006"	"KDM6B_000114"	"g.7755289T>A"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851971T>A"	""	"likely pathogenic (dominant)"	""
"0000931760"	"0"	"70"	"17"	"7755290"	"7755292"	"del"	"0"	"00006"	"KDM6B_000164"	"g.7755290_7755292del"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851972_7851974del"	""	"likely pathogenic (dominant)"	""
"0000931761"	"0"	"70"	"17"	"7755290"	"7755292"	"del"	"0"	"00006"	"KDM6B_000164"	"g.7755290_7755292del"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7851972_7851974del"	""	"likely pathogenic (dominant)"	""
"0000931762"	"0"	"70"	"17"	"7755325"	"7755325"	"subst"	"0"	"00006"	"KDM6B_000115"	"g.7755325T>C"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PS3, PM1, PM2, PP3"	"De novo"	""	""	"0"	""	""	"g.7852007T>C"	""	"likely pathogenic (dominant)"	""
"0000931763"	"0"	"70"	"17"	"7753142"	"7753142"	"subst"	"0"	"00006"	"KDM6B_000067"	"g.7753142T>G"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG VUS PS2_S, PM1_S, PM2, BS3_S, BP4"	"De novo"	""	""	"0"	""	""	"g.7849824T>G"	""	"VUS"	""
"0000931764"	"0"	"70"	"17"	"7755912"	"7755912"	"subst"	"0"	"00006"	"KDM6B_000119"	"g.7755912G>C"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PM1_S, PM2, PP3, BS3_S"	"De novo"	""	""	"0"	""	""	"g.7852594G>C"	""	"VUS"	""
"0000931765"	"0"	"50"	"17"	"7750870"	"7750870"	"subst"	"0"	"00006"	"KDM6B_000109"	"g.7750870G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S+PM2+BP4"	"De novo"	""	""	"0"	""	""	"g.7847552G>A"	""	"VUS"	""
"0000931766"	"0"	"70"	"17"	"7755884"	"7755884"	"subst"	"0"	"00006"	"KDM6B_000118"	"g.7755884A>G"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PM1_S, PM2, PP3, BS3_S"	"De novo"	""	""	"0"	""	""	"g.7852566A>G"	""	"VUS"	""
"0000931767"	"0"	"70"	"17"	"7755357"	"7755357"	"subst"	"0"	"00006"	"KDM6B_000117"	"g.7755357G>T"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PM1_S, PM2, PP3, BS3_S"	"De novo"	""	""	"0"	""	""	"g.7852039G>T"	""	"VUS"	""
"0000931768"	"0"	"70"	"17"	"7756685"	"7756685"	"subst"	"0"	"00006"	"KDM6B_000123"	"g.7756685A>G"	""	"{PMID:Rots 2023:37196654}"	""	""	"mosaic (0.20); ACMG PS2_S, PM1_S, PM2, PP3, BS3"	"Somatic"	""	""	"0"	""	""	"g.7853367A>G"	""	"VUS"	""
"0000931769"	"0"	"70"	"17"	"7756415"	"7756415"	"subst"	"0"	"00006"	"KDM6B_000120"	"g.7756415G>C"	""	"{PMID:Rots 2023:37196654}"	""	""	"father not available; ACMG PM1, PM2, PP3, BS3_S"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7853097G>C"	""	"VUS"	""
"0000931770"	"0"	"70"	"17"	"7756540"	"7756540"	"subst"	"0"	"00006"	"KDM6B_000122"	"g.7756540A>C"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S, PM1, PM2, PP3, BS3"	"De novo"	""	""	"0"	""	""	"g.7853222A>C"	""	"VUS"	""
"0000931771"	"0"	"70"	"17"	"7751251"	"7751256"	"del"	"0"	"00006"	"KDM6B_000110"	"g.7751251_7751256del"	""	"{PMID:Rots 2023:37196654}"	""	""	"ACMG PS2_S+PM2+BP4"	"De novo"	""	""	"0"	""	""	"g.7847933_7847938del"	""	"VUS"	""
"0000931772"	"21"	"70"	"17"	"7749442"	"7749442"	"subst"	"0"	"00006"	"KDM6B_000126"	"g.7749442G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.7846124G>A"	""	"VUS"	""
"0000931773"	"21"	"70"	"17"	"7749442"	"7749442"	"subst"	"0"	"00006"	"KDM6B_000126"	"g.7749442G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.7846124G>A"	""	"VUS"	""
"0000931774"	"0"	"70"	"17"	"7749442"	"7749442"	"subst"	"0"	"00006"	"KDM6B_000126"	"g.7749442G>A"	""	"{PMID:Rots 2023:37196654}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.7846124G>A"	""	"VUS"	""
"0000951054"	"0"	"30"	"17"	"7750643"	"7750643"	"subst"	"0.000125607"	"02325"	"KDM6B_000172"	"g.7750643C>T"	""	""	""	"KDM6B(NM_001080424.2):c.1130C>T (p.A377V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951055"	"0"	"30"	"17"	"7752007"	"7752007"	"subst"	"0.000178558"	"02325"	"KDM6B_000173"	"g.7752007G>A"	""	""	""	"KDM6B(NM_001080424.2):c.2401G>A (p.A801T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969258"	"0"	"10"	"17"	"7751889"	"7751891"	"dup"	"0"	"02329"	"KDM6B_000080"	"g.7751889_7751891dup"	""	""	""	"KDM6B(NM_001080424.2):c.2283_2285dupCAC (p.T762dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000982838"	"0"	"30"	"17"	"7750137"	"7750137"	"subst"	"4.08831E-5"	"02325"	"KDM6B_000175"	"g.7750137A>G"	""	""	""	"KDM6B(NM_001080424.2):c.712A>G (p.T238A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982839"	"0"	"30"	"17"	"7752083"	"7752083"	"subst"	"7.79436E-5"	"02325"	"KDM6B_000176"	"g.7752083C>G"	""	""	""	"KDM6B(NM_001080424.2):c.2477C>G (p.S826C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982840"	"0"	"30"	"17"	"7756309"	"7756309"	"subst"	"2.43881E-5"	"01804"	"CYB5D1_000009"	"g.7756309G>A"	""	""	""	"KDM6B(NM_001348716.2):c.4611-9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003728"	"0"	"70"	"17"	"7749475"	"7749475"	"subst"	"0"	"02325"	"KDM6B_000177"	"g.7749475C>T"	""	""	""	"KDM6B(NM_001080424.2):c.316C>T (p.Q106*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001003729"	"0"	"30"	"17"	"7749930"	"7749930"	"subst"	"2.43861E-5"	"01804"	"KDM6B_000178"	"g.7749930C>G"	""	""	""	"KDM6B(NM_001080424.1):c.583C>G (p.(Pro195Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003730"	"0"	"30"	"17"	"7749943"	"7749943"	"subst"	"2.43861E-5"	"01804"	"KDM6B_000179"	"g.7749943G>A"	""	""	""	"KDM6B(NM_001080424.1):c.596G>A (p.(Arg199Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003731"	"0"	"50"	"17"	"7750231"	"7750231"	"subst"	"0"	"01804"	"KDM6B_000180"	"g.7750231C>T"	""	""	""	"KDM6B(NM_001080424.1):c.806C>T (p.(Ala269Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003732"	"0"	"30"	"17"	"7750329"	"7750329"	"subst"	"8.14823E-6"	"01804"	"KDM6B_000181"	"g.7750329C>T"	""	""	""	"KDM6B(NM_001080424.1):c.904C>T (p.(Arg302Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003733"	"0"	"30"	"17"	"7750339"	"7750339"	"subst"	"0.000101849"	"01804"	"KDM6B_000182"	"g.7750339G>T"	""	""	""	"KDM6B(NM_001080424.1):c.909+5G>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003734"	"0"	"30"	"17"	"7750717"	"7750717"	"subst"	"1.65505E-5"	"01804"	"KDM6B_000183"	"g.7750717A>T"	""	""	""	"KDM6B(NM_001080424.1):c.1204A>T (p.(Ser402Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003735"	"0"	"50"	"17"	"7750753"	"7750753"	"subst"	"2.49118E-5"	"01804"	"KDM6B_000184"	"g.7750753G>A"	""	""	""	"KDM6B(NM_001080424.1):c.1240G>A (p.(Glu414Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003736"	"0"	"30"	"17"	"7750961"	"7750961"	"subst"	"0"	"01804"	"KDM6B_000185"	"g.7750961C>T"	""	""	""	"KDM6B(NM_001080424.1):c.1355C>T (p.(Ala452Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003737"	"0"	"90"	"17"	"7751022"	"7751023"	"del"	"0"	"02329"	"KDM6B_000071"	"g.7751022_7751023del"	""	""	""	"KDM6B(NM_001080424.2):c.1416_1417delCT (p.C473Sfs*36)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001003738"	"0"	"30"	"17"	"7751128"	"7751128"	"subst"	"6.79108E-6"	"01804"	"KDM6B_000186"	"g.7751128A>C"	""	""	""	"KDM6B(NM_001080424.1):c.1522A>C (p.(Thr508Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003739"	"0"	"50"	"17"	"7751572"	"7751572"	"subst"	"4.15621E-6"	"01804"	"KDM6B_000187"	"g.7751572G>T"	""	""	""	"KDM6B(NM_001080424.1):c.1966G>T (p.(Val656Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003740"	"0"	"50"	"17"	"7751573"	"7751573"	"subst"	"4.15538E-6"	"01804"	"KDM6B_000188"	"g.7751573T>C"	""	""	""	"KDM6B(NM_001080424.1):c.1967T>C (p.(Val656Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003741"	"0"	"30"	"17"	"7751581"	"7751581"	"subst"	"1.6597E-5"	"01804"	"KDM6B_000189"	"g.7751581G>A"	""	""	""	"KDM6B(NM_001080424.1):c.1975G>A (p.(Gly659Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003742"	"0"	"30"	"17"	"7751612"	"7751612"	"subst"	"2.885E-5"	"01804"	"KDM6B_000190"	"g.7751612G>A"	""	""	""	"KDM6B(NM_001080424.1):c.2006G>A (p.(Arg669Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003743"	"0"	"50"	"17"	"7751765"	"7751765"	"subst"	"4.09239E-6"	"01804"	"KDM6B_000191"	"g.7751765C>G"	""	""	""	"KDM6B(NM_001080424.1):c.2159C>G (p.(Ala720Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003744"	"0"	"30"	"17"	"7751777"	"7751777"	"subst"	"0"	"01804"	"KDM6B_000192"	"g.7751777C>A"	""	""	""	"KDM6B(NM_001080424.1):c.2171C>A (p.(Pro724Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003745"	"0"	"30"	"17"	"7751840"	"7751840"	"subst"	"0"	"01804"	"KDM6B_000193"	"g.7751840C>T"	""	""	""	"KDM6B(NM_001080424.1):c.2234C>T (p.(Thr745Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003746"	"0"	"30"	"17"	"7751888"	"7751888"	"subst"	"0"	"01804"	"KDM6B_000194"	"g.7751888C>G"	""	""	""	"KDM6B(NM_001080424.1):c.2282C>G (p.(Thr761Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003747"	"0"	"30"	"17"	"7752061"	"7752061"	"subst"	"2.46045E-5"	"01804"	"KDM6B_000195"	"g.7752061C>T"	""	""	""	"KDM6B(NM_001080424.1):c.2455C>T (p.(Arg819Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003748"	"0"	"30"	"17"	"7752244"	"7752244"	"subst"	"0.000495417"	"01804"	"KDM6B_000098"	"g.7752244C>G"	""	""	""	"KDM6B(NM_001080424.1):c.2638C>G (p.(Arg880Gly)), KDM6B(NM_001080424.2):c.2638C>G (p.R880G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003749"	"0"	"30"	"17"	"7752286"	"7752286"	"subst"	"0"	"01804"	"KDM6B_000196"	"g.7752286A>G"	""	""	""	"KDM6B(NM_001080424.1):c.2680A>G (p.(Thr894Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003750"	"0"	"30"	"17"	"7752409"	"7752409"	"subst"	"1.26821E-5"	"01804"	"KDM6B_000197"	"g.7752409C>T"	""	""	""	"KDM6B(NM_001080424.1):c.2803C>T (p.(Pro935Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003751"	"0"	"50"	"17"	"7752635"	"7752635"	"subst"	"0"	"01804"	"KDM6B_000198"	"g.7752635C>G"	""	""	""	"KDM6B(NM_001080424.1):c.3029C>G (p.(Pro1010Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003752"	"0"	"30"	"17"	"7752713"	"7752713"	"subst"	"0"	"01804"	"KDM6B_000199"	"g.7752713C>T"	""	""	""	"KDM6B(NM_001080424.1):c.3107C>T (p.(Pro1036Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003753"	"0"	"50"	"17"	"7752952"	"7752952"	"subst"	"0"	"01804"	"KDM6B_000200"	"g.7752952G>A"	""	""	""	"KDM6B(NM_001080424.1):c.3346G>A (p.(Glu1116Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003754"	"0"	"30"	"17"	"7753231"	"7753231"	"subst"	"4.06332E-6"	"01804"	"KDM6B_000201"	"g.7753231G>T"	""	""	""	"KDM6B(NM_001080424.1):c.3533G>T (p.(Arg1178Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003755"	"0"	"50"	"17"	"7753447"	"7753447"	"subst"	"0"	"01804"	"KDM6B_000202"	"g.7753447C>T"	""	""	""	"KDM6B(NM_001080424.1):c.3625C>T (p.(Arg1209*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003756"	"0"	"30"	"17"	"7755931"	"7755931"	"subst"	"0"	"01804"	"CYB5D1_000010"	"g.7755931C>A"	""	""	""	"KDM6B(NM_001080424.1):c.4587C>A (p.(Asp1529Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001003757"	"0"	"30"	"17"	"7756753"	"7756753"	"subst"	"0"	"01804"	"CYB5D1_000011"	"g.7756753G>C"	""	""	""	"KDM6B(NM_001080424.1):c.4963G>C (p.(Gly1655Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001015630"	"0"	"30"	"17"	"7752963"	"7752963"	"subst"	"5.81014E-5"	"02325"	"KDM6B_000203"	"g.7752963C>T"	""	""	""	"KDM6B(NM_001080424.2):c.3357C>T (p.I1119=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001017446"	"0"	"70"	"17"	"7751647"	"7751647"	"subst"	"0"	"03544"	"KDM6B_000204"	"g.7751647C>T"	""	""	""	""	"Also detected in affected sister, but not in parents. Gonadal mosaicism in mother or in father is inferred."	"Germline"	"yes"	""	"0"	""	""	"g.7848329C>T"	"{CV:3378404}"	"likely pathogenic"	"ACMG"
"0001027067"	"0"	"90"	"17"	"7752112"	"7752112"	"subst"	"0"	"02325"	"KDM6B_000205"	"g.7752112C>T"	""	""	""	"KDM6B(NM_001080424.2):c.2506C>T (p.Q836*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001027068"	"0"	"30"	"17"	"7754963"	"7754963"	"subst"	"9.70525E-6"	"02325"	"KDM6B_000206"	"g.7754963C>T"	""	""	""	"KDM6B(NM_001080424.2):c.4017-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042209"	"0"	"30"	"17"	"7749212"	"7749212"	"subst"	"8.12341E-6"	"01804"	"KDM6B_000207"	"g.7749212C>T"	""	""	""	"KDM6B(NM_001348716.2):c.160C>T (p.(Pro54Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042210"	"0"	"30"	"17"	"7750065"	"7750065"	"subst"	"6.90591E-5"	"01804"	"KDM6B_000208"	"g.7750065G>A"	""	""	""	"KDM6B(NM_001348716.2):c.711+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042211"	"0"	"50"	"17"	"7751877"	"7751891"	"del"	"0"	"01804"	"KDM6B_000209"	"g.7751877_7751891del"	""	""	""	"KDM6B(NM_001348716.2):c.2271_2285del (p.(Thr758_Thr762del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042212"	"0"	"30"	"17"	"7753231"	"7753231"	"subst"	"2.84433E-5"	"01804"	"KDM6B_000210"	"g.7753231G>C"	""	""	""	"KDM6B(NM_001348716.2):c.3533G>C (p.(Arg1178Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042213"	"0"	"30"	"17"	"7753274"	"7753274"	"subst"	"8.12559E-6"	"01804"	"KDM6B_000211"	"g.7753274G>T"	""	""	""	"KDM6B(NM_001348716.2):c.3567+9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055819"	"0"	"50"	"17"	"7750567"	"7750567"	"subst"	"0"	"01804"	"KDM6B_000212"	"g.7750567G>T"	""	""	""	"KDM6B(NM_001348716.2):c.1054G>T (p.(Ala352Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055820"	"0"	"50"	"17"	"7750568"	"7750568"	"subst"	"0"	"01804"	"KDM6B_000213"	"g.7750568C>T"	""	""	""	"KDM6B(NM_001348716.2):c.1055C>T (p.(Ala352Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055821"	"0"	"30"	"17"	"7752232"	"7752232"	"subst"	"6.55807E-5"	"01804"	"KDM6B_000214"	"g.7752232G>A"	""	""	""	"KDM6B(NM_001348716.2):c.2626G>A (p.(Gly876Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 KDM6B
## Count = 251
"{{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}}"
"0000281772"	"00010464"	"10"	"1258"	"-17"	"1258"	"-17"	"c.1258-17T>C"	"r.(=)"	"p.(=)"	""
"0000281773"	"00010464"	"10"	"2172"	"0"	"2172"	"0"	"c.2172G>A"	"r.(?)"	"p.(Pro724=)"	""
"0000281774"	"00010464"	"10"	"807"	"0"	"807"	"0"	"c.807T>C"	"r.(?)"	"p.(Ala269=)"	""
"0000290154"	"00010464"	"50"	"1085"	"0"	"1088"	"0"	"c.1085_1088del"	"r.(?)"	"p.(Glu362AlafsTer124)"	""
"0000290155"	"00010464"	"30"	"165"	"0"	"165"	"0"	"c.165G>A"	"r.(?)"	"p.(Pro55=)"	""
"0000290156"	"00010464"	"50"	"4168"	"0"	"4168"	"0"	"c.4168C>T"	"r.(?)"	"p.(His1390Tyr)"	""
"0000290157"	"00010464"	"50"	"445"	"0"	"445"	"0"	"c.445C>T"	"r.(?)"	"p.(Arg149Ter)"	""
"0000290158"	"00010464"	"30"	"625"	"0"	"625"	"0"	"c.625G>T"	"r.(?)"	"p.(Val209Leu)"	""
"0000290159"	"00010464"	"10"	"783"	"0"	"791"	"0"	"c.783_791del"	"r.(?)"	"p.(Pro262_Pro264del)"	""
"0000290161"	"00010464"	"30"	"786"	"0"	"791"	"0"	"c.786_791del"	"r.(?)"	"p.(Pro263_Pro264del)"	""
"0000325166"	"00010464"	"50"	"786"	"0"	"791"	"0"	"c.786_791dup"	"r.(?)"	"p.(Pro263_Pro264dup)"	""
"0000325168"	"00010464"	"30"	"786"	"0"	"791"	"0"	"c.786_791del"	"r.(?)"	"p.(Pro263_Pro264del)"	""
"0000325170"	"00010464"	"50"	"2726"	"0"	"2726"	"0"	"c.2726C>A"	"r.(?)"	"p.(Ser909Tyr)"	""
"0000325171"	"00010464"	"50"	"11042"	"0"	"11042"	"0"	"c.*5993C>T"	"r.(=)"	"p.(=)"	""
"0000563320"	"00010464"	"30"	"-268"	"-8"	"-268"	"-8"	"c.-268-8C>T"	"r.(=)"	"p.(=)"	""
"0000563322"	"00010464"	"30"	"457"	"-8"	"457"	"-8"	"c.457-8A>C"	"r.(=)"	"p.(=)"	""
"0000563323"	"00010464"	"30"	"457"	"-2"	"457"	"-2"	"c.457-2A>C"	"r.spl?"	"p.?"	""
"0000563324"	"00010464"	"30"	"457"	"-2"	"457"	"0"	"c.457-2_457del"	"r.spl?"	"p.?"	""
"0000563325"	"00010464"	"30"	"501"	"0"	"501"	"0"	"c.501C>G"	"r.(?)"	"p.(Ala167=)"	""
"0000563326"	"00010464"	"50"	"575"	"0"	"575"	"0"	"c.575G>C"	"r.(?)"	"p.(Arg192Pro)"	""
"0000563327"	"00010464"	"30"	"607"	"0"	"607"	"0"	"c.607C>G"	"r.(?)"	"p.(Pro203Ala)"	""
"0000563328"	"00010464"	"30"	"625"	"0"	"625"	"0"	"c.625G>T"	"r.(?)"	"p.(Val209Leu)"	""
"0000563333"	"00010464"	"10"	"783"	"0"	"791"	"0"	"c.783_791dup"	"r.(?)"	"p.(Pro262_Pro264dup)"	""
"0000563335"	"00010464"	"10"	"786"	"0"	"791"	"0"	"c.786_791dup"	"r.(?)"	"p.(Pro263_Pro264dup)"	""
"0000563338"	"00010464"	"30"	"789"	"0"	"791"	"0"	"c.789_791del"	"r.(?)"	"p.(Pro264del)"	""
"0000563340"	"00010464"	"10"	"789"	"0"	"791"	"0"	"c.789_791dup"	"r.(?)"	"p.(Pro264dup)"	""
"0000563343"	"00010464"	"30"	"1019"	"0"	"1019"	"0"	"c.1019G>C"	"r.(?)"	"p.(Arg340Pro)"	""
"0000563344"	"00010464"	"30"	"1235"	"0"	"1235"	"0"	"c.1235G>T"	"r.(?)"	"p.(Gly412Val)"	""
"0000563345"	"00010464"	"30"	"1330"	"0"	"1330"	"0"	"c.1330A>G"	"r.(?)"	"p.(Ser444Gly)"	""
"0000563347"	"00010464"	"10"	"1538"	"0"	"1538"	"0"	"c.1538G>C"	"r.(?)"	"p.(Arg513Pro)"	""
"0000563348"	"00010464"	"30"	"1538"	"0"	"1538"	"0"	"c.1538G>C"	"r.(?)"	"p.(Arg513Pro)"	""
"0000563349"	"00010464"	"30"	"1543"	"0"	"1543"	"0"	"c.1543G>C"	"r.(?)"	"p.(Ala515Pro)"	""
"0000563350"	"00010464"	"30"	"1556"	"0"	"1556"	"0"	"c.1556T>C"	"r.(?)"	"p.(Leu519Pro)"	""
"0000563352"	"00010464"	"30"	"1925"	"0"	"1925"	"0"	"c.1925C>T"	"r.(?)"	"p.(Pro642Leu)"	""
"0000563353"	"00010464"	"30"	"2174"	"0"	"2174"	"0"	"c.2174T>C"	"r.(?)"	"p.(Leu725Pro)"	""
"0000563354"	"00010464"	"30"	"2277"	"0"	"2285"	"0"	"c.2277_2285del"	"r.(?)"	"p.(Thr760_Thr762del)"	""
"0000563355"	"00010464"	"30"	"2280"	"0"	"2285"	"0"	"c.2280_2285del"	"r.(?)"	"p.(Thr761_Thr762del)"	""
"0000563356"	"00010464"	"30"	"2283"	"0"	"2285"	"0"	"c.2283_2285del"	"r.(?)"	"p.(Thr762del)"	""
"0000563357"	"00010464"	"30"	"2600"	"0"	"2600"	"0"	"c.2600C>T"	"r.(?)"	"p.(Ser867Leu)"	""
"0000563358"	"00010464"	"30"	"2652"	"0"	"2652"	"0"	"c.2652G>A"	"r.(?)"	"p.(Ala884=)"	""
"0000563359"	"00010464"	"30"	"2656"	"0"	"2656"	"0"	"c.2656G>A"	"r.(?)"	"p.(Glu886Lys)"	""
"0000563360"	"00010464"	"30"	"2677"	"0"	"2677"	"0"	"c.2677A>C"	"r.(?)"	"p.(Met893Leu)"	""
"0000563361"	"00010464"	"30"	"2680"	"0"	"2680"	"0"	"c.2680A>T"	"r.(?)"	"p.(Thr894Ser)"	""
"0000563362"	"00010464"	"30"	"2685"	"0"	"2685"	"0"	"c.2685dup"	"r.(?)"	"p.(Thr896HisfsTer15)"	""
"0000563363"	"00010464"	"30"	"2686"	"0"	"2686"	"0"	"c.2686A>C"	"r.(?)"	"p.(Thr896Pro)"	""
"0000563364"	"00010464"	"30"	"2686"	"0"	"2686"	"0"	"c.2686del"	"r.(?)"	"p.(Thr896ProfsTer19)"	""
"0000563365"	"00010464"	"30"	"2690"	"0"	"2690"	"0"	"c.2690A>C"	"r.(?)"	"p.(Gln897Pro)"	""
"0000563366"	"00010464"	"30"	"2690"	"0"	"2691"	"0"	"c.2690_2691del"	"r.(?)"	"p.(Gln897ProfsTer13)"	""
"0000563367"	"00010464"	"30"	"2700"	"0"	"2700"	"0"	"c.2700del"	"r.(?)"	"p.(Leu902TyrfsTer13)"	""
"0000563368"	"00010464"	"30"	"2701"	"0"	"2701"	"0"	"c.2701C>T"	"r.(?)"	"p.(Pro901Ser)"	""
"0000563371"	"00010464"	"50"	"2718"	"0"	"2718"	"0"	"c.2718del"	"r.(?)"	"p.(Ala907LeufsTer8)"	""
"0000563372"	"00010464"	"30"	"2938"	"0"	"2940"	"0"	"c.2938_2940del"	"r.(?)"	"p.(Gln980del)"	""
"0000563373"	"00010464"	"50"	"3444"	"0"	"3444"	"0"	"c.3444T>G"	"r.(?)"	"p.(Asn1148Lys)"	""
"0000563374"	"00010464"	"10"	"4044"	"0"	"4044"	"0"	"c.4044G>A"	"r.(?)"	"p.(Leu1348=)"	""
"0000563375"	"00010464"	"30"	"4188"	"0"	"4188"	"0"	"c.4188C>T"	"r.(?)"	"p.(Phe1396=)"	""
"0000563376"	"00010464"	"50"	"4590"	"0"	"4590"	"0"	"c.4590del"	"r.(?)"	"p.(Asp1531ThrfsTer5)"	""
"0000563377"	"00010464"	"30"	"6621"	"0"	"6621"	"0"	"c.*1572G>C"	"r.(=)"	"p.(=)"	""
"0000616866"	"00010464"	"50"	"654"	"0"	"655"	"0"	"c.654_655del"	"r.(?)"	"p.(Glu220GlyfsTer16)"	""
"0000616867"	"00010464"	"30"	"783"	"0"	"791"	"0"	"c.783_791dup"	"r.(?)"	"p.(Pro262_Pro264dup)"	""
"0000616868"	"00010464"	"30"	"788"	"0"	"793"	"0"	"c.788_793dup"	"r.(?)"	"p.(Pro263_Pro264dup)"	""
"0000616869"	"00010464"	"30"	"789"	"0"	"791"	"0"	"c.789_791dup"	"r.(?)"	"p.(Pro264dup)"	""
"0000623778"	"00010464"	"50"	"4202"	"0"	"4204"	"0"	"c.4202_4204del"	"r.(?)"	"p.(Ile1401del)"	""
"0000658282"	"00010464"	"50"	"4193"	"0"	"4193"	"0"	"c.4193C>A"	"r.(?)"	"p.(Ser1398Tyr)"	""
"0000666141"	"00010464"	"90"	"1416"	"0"	"1417"	"0"	"c.1416_1417del"	"r.(?)"	"p.(Cys473Serfs*36)"	""
"0000666143"	"00010464"	"90"	"4020"	"0"	"4021"	"0"	"c.4020_4021delinsAT"	"r.(?)"	"p.(Trp1340*)"	""
"0000681048"	"00010464"	"30"	"788"	"0"	"793"	"0"	"c.788_793dup"	"r.(?)"	"p.(Pro263_Pro264dup)"	""
"0000681049"	"00010464"	"90"	"1229"	"0"	"1233"	"0"	"c.1229_1233dup"	"r.(?)"	"p.(Gly412SerfsTer77)"	""
"0000681050"	"00010464"	"30"	"1562"	"0"	"1562"	"0"	"c.1562A>C"	"r.(?)"	"p.(His521Pro)"	""
"0000681051"	"00010464"	"30"	"2903"	"0"	"2903"	"0"	"c.2903T>G"	"r.(?)"	"p.(Val968Gly)"	""
"0000685829"	"00010464"	"70"	"3602"	"0"	"3603"	"0"	"c.3602_3603insA"	"r.(?)"	"p.(Leu1202Alafs*54)"	""
"0000692491"	"00010464"	"30"	"567"	"0"	"567"	"0"	"c.567A>G"	"r.(?)"	"p.(Gly189=)"	""
"0000692492"	"00010464"	"10"	"783"	"0"	"791"	"0"	"c.783_791del"	"r.(?)"	"p.(Pro262_Pro264del)"	""
"0000692493"	"00010464"	"50"	"1060"	"0"	"1060"	"0"	"c.1060C>T"	"r.(?)"	"p.(Arg354Cys)"	""
"0000692494"	"00010464"	"30"	"1925"	"0"	"1925"	"0"	"c.1925C>T"	"r.(?)"	"p.(Pro642Leu)"	""
"0000692495"	"00010464"	"70"	"1996"	"0"	"1996"	"0"	"c.1996C>T"	"r.(?)"	"p.(Arg666Ter)"	""
"0000692496"	"00010464"	"30"	"2283"	"0"	"2285"	"0"	"c.2283_2285dup"	"r.(?)"	"p.(Thr762dup)"	""
"0000692497"	"00010464"	"30"	"2694"	"0"	"2694"	"0"	"c.2694G>C"	"r.(?)"	"p.(Pro898=)"	""
"0000692498"	"00010464"	"30"	"2716"	"0"	"2716"	"0"	"c.2716C>G"	"r.(?)"	"p.(Pro906Ala)"	""
"0000694846"	"00010464"	"10"	"625"	"0"	"625"	"0"	"c.625G>T"	"r.(?)"	"p.(Val209Leu)"	""
"0000694847"	"00010464"	"10"	"789"	"0"	"791"	"0"	"c.789_791del"	"r.(?)"	"p.(Pro264del)"	""
"0000694848"	"00010464"	"50"	"1634"	"0"	"1634"	"0"	"c.1634C>A"	"r.(?)"	"p.(Thr545Asn)"	""
"0000694849"	"00010464"	"10"	"1925"	"0"	"1925"	"0"	"c.1925C>T"	"r.(?)"	"p.(Pro642Leu)"	""
"0000694850"	"00010464"	"50"	"1970"	"0"	"1970"	"0"	"c.1970C>T"	"r.(?)"	"p.(Pro657Leu)"	""
"0000694851"	"00010464"	"50"	"1997"	"0"	"1997"	"0"	"c.1997G>A"	"r.(?)"	"p.(Arg666Gln)"	""
"0000694852"	"00010464"	"10"	"2283"	"0"	"2285"	"0"	"c.2283_2285dup"	"r.(?)"	"p.(Thr762dup)"	""
"0000694853"	"00010464"	"50"	"2623"	"0"	"2623"	"0"	"c.2623G>A"	"r.(?)"	"p.(Gly875Ser)"	""
"0000694854"	"00010464"	"50"	"2674"	"0"	"2674"	"0"	"c.2674C>T"	"r.(?)"	"p.(Pro892Ser)"	""
"0000694855"	"00010464"	"30"	"2726"	"0"	"2726"	"0"	"c.2726C>A"	"r.(?)"	"p.(Ser909Tyr)"	""
"0000694856"	"00010464"	"50"	"3219"	"0"	"3219"	"0"	"c.3219G>T"	"r.(?)"	"p.(Lys1073Asn)"	""
"0000726726"	"00010464"	"30"	"549"	"6"	"549"	"6"	"c.549+6G>C"	"r.(=)"	"p.(=)"	""
"0000726727"	"00010464"	"90"	"1452"	"0"	"1452"	"0"	"c.1452del"	"r.(?)"	"p.(Trp485Glyfs*2)"	""
"0000726728"	"00010464"	"30"	"2283"	"0"	"2285"	"0"	"c.2283_2285del"	"r.(?)"	"p.(Thr762del)"	""
"0000726729"	"00010464"	"30"	"2686"	"0"	"2686"	"0"	"c.2686A>C"	"r.(?)"	"p.(Thr896Pro)"	""
"0000814360"	"00010464"	"50"	"786"	"0"	"791"	"0"	"c.786_791dup"	"r.(?)"	"p.(Pro263_Pro264dup)"	""
"0000831170"	"00010464"	"70"	"31"	"0"	"31"	"0"	"c.31del"	"r.(?)"	"p.(Arg11Alafs*12)"	""
"0000831171"	"00010464"	"30"	"4879"	"0"	"4879"	"0"	"c.4879C>G"	"r.(?)"	"p.(Leu1627Val)"	""
"0000855133"	"00010464"	"10"	"789"	"0"	"791"	"0"	"c.789_791del"	"r.(?)"	"p.(Pro264del)"	""
"0000855134"	"00010464"	"30"	"2277"	"0"	"2285"	"0"	"c.2277_2285del"	"r.(?)"	"p.(Thr760_Thr762del)"	""
"0000855135"	"00010464"	"30"	"3103"	"0"	"3103"	"0"	"c.3103C>T"	"r.(?)"	"p.(Arg1035Trp)"	""
"0000865531"	"00010464"	"30"	"2195"	"0"	"2195"	"0"	"c.2195T>C"	"r.(?)"	"p.(Leu732Pro)"	""
"0000894322"	"00010464"	"70"	"1025"	"0"	"1025"	"0"	"c.1025dup"	"r.(?)"	"p.(Gly343Argfs*17)"	""
"0000914987"	"00010464"	"50"	"680"	"0"	"680"	"0"	"c.680G>T"	"r.(?)"	"p.(Gly227Val)"	""
"0000920881"	"00010464"	"50"	"4793"	"0"	"4793"	"0"	"c.4793A>G"	"r.(?)"	"p.(Tyr1598Cys)"	""
"0000926652"	"00010464"	"30"	"2638"	"0"	"2638"	"0"	"c.2638C>G"	"r.(?)"	"p.(Arg880Gly)"	""
"0000926653"	"00010464"	"50"	"3044"	"0"	"3044"	"0"	"c.3044G>A"	"r.(?)"	"p.(Arg1015His)"	""
"0000927714"	"00010464"	"70"	"3251"	"0"	"3261"	"0"	"c.3251_3261delinsCCAG"	"r.(?)"	"p.(Val1084AlafsTer5)"	""
"0000927715"	"00010464"	"70"	"4136"	"0"	"4136"	"0"	"c.4136A>C"	"r.(?)"	"p.(Tyr1379Ser)"	""
"0000927716"	"00010464"	"70"	"3992"	"0"	"3992"	"0"	"c.3992A>G"	"r.(?)"	"p.(Asn1331Ser)"	""
"0000927717"	"00010464"	"70"	"3862"	"0"	"3865"	"0"	"c.3862_3865del"	"r.(?)"	"p.(Phe1288ArgfsTer60)"	""
"0000927718"	"00010464"	"70"	"3334"	"0"	"3335"	"0"	"c.3334_3335del"	"r.(?)"	"p.(Ser1112TrpfsTer2)"	""
"0000927719"	"00010464"	"70"	"3085"	"0"	"3085"	"0"	"c.3085dup"	"r.(?)"	"p.(Gln1029ProfsTer4)"	""
"0000927720"	"00010464"	"70"	"3730"	"0"	"3730"	"0"	"c.3730G>T"	"r.(?)"	"p.(Glu1244Ter)"	""
"0000927721"	"00010464"	"70"	"225"	"0"	"225"	"0"	"c.225T>A"	"r.(?)"	"p.(Tyr75Ter)"	""
"0000927722"	"00010464"	"70"	"2684"	"0"	"2685"	"0"	"c.2684_2685del"	"r.(?)"	"p.(Pro895HisfsTer15)"	""
"0000927723"	"00010464"	"70"	"4590"	"0"	"4590"	"0"	"c.4590del"	"r.(?)"	"p.(Asp1531ThrfsTer5)"	""
"0000927724"	"00010464"	"70"	"445"	"0"	"445"	"0"	"c.445C>T"	"r.(?)"	"p.(Arg149Ter)"	""
"0000927725"	"00010464"	"70"	"1085"	"0"	"1088"	"0"	"c.1085_1088del"	"r.(?)"	"p.(Glu362AlafsTer124)"	""
"0000930899"	"00010464"	"50"	"4357"	"0"	"4357"	"0"	"c.4357C>T"	"r.(?)"	"p.(Arg1453Cys)"	""
"0000931690"	"00010464"	"90"	"1018"	"0"	"1018"	"0"	"c.1018del"	"r.(?)"	"p.(Arg340AlafsTer147)"	""
"0000931691"	"00010464"	"90"	"1085"	"0"	"1088"	"0"	"c.1085_1088del"	"r.(?)"	"p.(Glu362AlafsTer124)"	""
"0000931692"	"00010464"	"90"	"654"	"0"	"655"	"0"	"c.654_655del"	"r.(?)"	"p.(Glu220GlyfsTer16)"	""
"0000931693"	"00010464"	"90"	"1439"	"0"	"1439"	"0"	"c.1439dup"	"r.(?)"	"p.(Pro481ThrfsTer29)"	""
"0000931694"	"00010464"	"90"	"2598"	"0"	"2598"	"0"	"c.2598del"	"r.(?)"	"p.(Ser867ArgfsTer27)"	""
"0000931695"	"00010464"	"90"	"4500"	"0"	"4500"	"0"	"c.4500C>A"	"r.(?)"	"p.(Tyr1500Ter)"	""
"0000931696"	"00010464"	"90"	"403"	"0"	"403"	"0"	"c.403C>T"	"r.(?)"	"p.(Arg135Ter)"	""
"0000931697"	"00010464"	"90"	"4737"	"1"	"4737"	"1"	"c.4737+1G>A"	"r.spl"	"p.?"	""
"0000931698"	"00010464"	"90"	"3288"	"0"	"3291"	"0"	"c.3288_3291del"	"r.(?)"	"p.(Ser1096ArgfsTer7)"	""
"0000931699"	"00010464"	"90"	"3288"	"0"	"3291"	"0"	"c.3288_3291del"	"r.(?)"	"p.(Ser1096ArgfsTer7)"	""
"0000931700"	"00010464"	"90"	"403"	"0"	"403"	"0"	"c.403C>T"	"r.(?)"	"p.(Arg135Ter)"	""
"0000931701"	"00010464"	"90"	"138"	"-1"	"138"	"-1"	"c.138-1G>A"	"r.spl"	"p.?"	""
"0000931702"	"00010464"	"90"	"523"	"0"	"523"	"0"	"c.523C>T"	"r.(?)"	"p.(Gln175Ter)"	""
"0000931703"	"00010464"	"90"	"4733"	"0"	"4733"	"0"	"c.4733del"	"r.(?)"	"p.(Cys1578SerfsTer11)"	""
"0000931704"	"00010464"	"90"	"1085"	"0"	"1088"	"0"	"c.1085_1088del"	"r.(?)"	"p.(Glu362AlafsTer124)"	""
"0000931705"	"00010464"	"90"	"445"	"0"	"445"	"0"	"c.445C>T"	"r.(?)"	"p.(Arg149Ter)"	""
"0000931706"	"00010464"	"90"	"3911"	"0"	"3912"	"0"	"c.3911_3912del"	"r.(?)"	"p.(Glu1304GlyfsTer11)"	""
"0000931707"	"00010464"	"90"	"2572"	"0"	"2572"	"0"	"c.2572C>T"	"r.(?)"	"p.(Gln858Ter)"	""
"0000931708"	"00010464"	"90"	"2699"	"0"	"2699"	"0"	"c.2699del"	"r.(?)"	"p.(Pro900HisfsTer15)"	""
"0000931709"	"00010464"	"90"	"1537"	"0"	"1537"	"0"	"c.1537dup"	"r.(?)"	"p.(Arg513ProfsTer42)"	""
"0000931710"	"00010464"	"90"	"3674"	"-2"	"3674"	"-2"	"c.3674-2A>G"	"r.spl"	"p.?"	""
"0000931711"	"00010464"	"90"	"654"	"0"	"655"	"0"	"c.654_655del"	"r.(?)"	"p.(Glu220GlyfsTer16)"	""
"0000931712"	"00010464"	"90"	"3300"	"0"	"3300"	"0"	"c.3300del"	"r.(?)"	"p.(Lys1101ArgfsTer3)"	""
"0000931713"	"00010464"	"90"	"3038"	"0"	"3038"	"0"	"c.3038del"	"r.(?)"	"p.(Lys1013ArgfsTer78)"	""
"0000931714"	"00010464"	"90"	"3944"	"1"	"3944"	"1"	"c.3944+1G>A"	"r.spl"	"p.?"	""
"0000931715"	"00010464"	"90"	"1260"	"0"	"1270"	"0"	"c.1260_1270del"	"r.(?)"	"p.(Gly421LeufsTer85)"	""
"0000931716"	"00010464"	"90"	"496"	"0"	"496"	"0"	"c.496C>T"	"r.(?)"	"p.(Arg166Ter)"	""
"0000931717"	"00010464"	"90"	"419"	"0"	"419"	"0"	"c.419dup"	"r.(?)"	"p.(Ala141ArgfsTer2)"	""
"0000931718"	"00010464"	"90"	"2985"	"0"	"2988"	"0"	"c.2985_2988delinsGGGACAGTGCC"	"r.(?)"	"p.(Arg996GlyfsTer7)"	""
"0000931719"	"00010464"	"90"	"2690"	"0"	"2703"	"0"	"c.2690_2703del"	"r.(?)"	"p.(Gln897ProfsTer9)"	""
"0000931720"	"00010464"	"90"	"1229"	"0"	"1233"	"0"	"c.1229_1233dup"	"r.(?)"	"p.(Gly412SerfsTer77)"	""
"0000931721"	"00010464"	"90"	"2923"	"0"	"2923"	"0"	"c.2923C>T"	"r.(?)"	"p.(Arg975Ter)"	""
"0000931722"	"00010464"	"90"	"3535"	"0"	"3535"	"0"	"c.3535dup"	"r.(?)"	"p.(Glu1179GlyfsTer77)"	""
"0000931723"	"00010464"	"90"	"3564"	"0"	"3567"	"0"	"c.3564_3567del"	"r.(?)"	"p.(Tyr1189TrpfsTer25)"	""
"0000931724"	"00010464"	"90"	"685"	"0"	"685"	"0"	"c.685C>T"	"r.(?)"	"p.(Arg229Ter)"	""
"0000931725"	"00010464"	"90"	"2923"	"0"	"2923"	"0"	"c.2923C>T"	"r.(?)"	"p.(Arg975Ter)"	""
"0000931726"	"00010464"	"90"	"1416"	"0"	"1417"	"0"	"c.1416_1417del"	"r.(?)"	"p.(Cys473SerfsTer36)"	""
"0000931727"	"00010464"	"90"	"4795"	"0"	"4795"	"0"	"c.4795del"	"r.(?)"	"p.(Leu1599TrpfsTer39)"	""
"0000931728"	"00010464"	"90"	"2134"	"0"	"2134"	"0"	"c.2134C>T"	"r.(?)"	"p.(Gln712Ter)"	""
"0000931729"	"00010464"	"90"	"578"	"0"	"578"	"0"	"c.578del"	"r.(?)"	"p.(Gly193GlufsTer5)"	""
"0000931730"	"00010464"	"90"	"138"	"-2"	"138"	"-2"	"c.138-2A>G"	"r.spl"	"p.?"	""
"0000931731"	"00010464"	"90"	"4468"	"5"	"4468"	"5"	"c.4468+5G>C"	"r.spl"	"p.?"	""
"0000931732"	"00010464"	"90"	"2125"	"0"	"2125"	"0"	"c.2125G>T"	"r.(?)"	"p.(Glu709Ter)"	""
"0000931733"	"00010464"	"90"	"4708"	"0"	"4708"	"0"	"c.4708G>T"	"r.(?)"	"p.(Glu1570Ter)"	""
"0000931734"	"00010464"	"90"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Gln115Ter)"	""
"0000931735"	"00010464"	"90"	"403"	"0"	"403"	"0"	"c.403C>T"	"r.(?)"	"p.(Arg135Ter)"	""
"0000931736"	"00010464"	"90"	"2012"	"0"	"2013"	"0"	"c.2012_2013del"	"r.(?)"	"p.(Phe671Ter)"	""
"0000931737"	"00010464"	"90"	"4165"	"2"	"4165"	"2"	"c.4165+2T>A"	"r.spl"	"p.?"	""
"0000931738"	"00010464"	"90"	"2970"	"0"	"2970"	"0"	"c.2970dup"	"r.(?)"	"p.(Lys991Ter)"	""
"0000931739"	"00010464"	"90"	"1769"	"0"	"1769"	"0"	"c.1769del"	"r.(?)"	"p.(Pro590GlnfsTer13)"	""
"0000931740"	"00010464"	"90"	"1769"	"0"	"1769"	"0"	"c.1769del"	"r.(?)"	"p.(Pro590GlnfsTer13)"	""
"0000931741"	"00010464"	"90"	"1053"	"0"	"1056"	"0"	"c.1053_1056del"	"r.(?)"	"p.(Ala352ProfsTer134)"	""
"0000931742"	"00010464"	"90"	"2448"	"0"	"2448"	"0"	"c.2448C>G"	"r.(?)"	"p.(Tyr816Ter)"	""
"0000931743"	"00010464"	"90"	"4020"	"0"	"4021"	"0"	"c.4020_4021delinsAT"	"r.(?)"	"p.(Trp1340Ter)"	""
"0000931744"	"00010464"	"90"	"1416"	"0"	"1417"	"0"	"c.1416_1417del"	"r.(?)"	"p.(Cys473SerfsTer36)"	""
"0000931745"	"00010464"	"90"	"1416"	"0"	"1417"	"0"	"c.1416_1417del"	"r.(?)"	"p.(Cys473SerfsTer36)"	""
"0000931746"	"00010464"	"90"	"2865"	"0"	"2865"	"0"	"c.2865del"	"r.(?)"	"p.(Ala956HisfsTer135)"	""
"0000931747"	"00010464"	"90"	"4431"	"0"	"4431"	"0"	"c.4431G>A"	"r.(?)"	"p.(Trp1477Ter)"	""
"0000931748"	"00010464"	"90"	"1483"	"0"	"1483"	"0"	"c.1483C>T"	"r.(?)"	"p.(Arg495Ter)"	""
"0000931749"	"00010464"	"90"	"1085"	"0"	"1088"	"0"	"c.1085_1088del"	"r.(?)"	"p.(Glu362AlafsTer124)"	""
"0000931750"	"00010464"	"90"	"3046"	"0"	"3046"	"0"	"c.3046dup"	"r.(?)"	"p.(Arg1016ProfsTer17)"	""
"0000931751"	"00010464"	"90"	"3281"	"0"	"3281"	"0"	"c.3281C>A"	"r.(?)"	"p.(Ser1094Ter)"	""
"0000931752"	"00010464"	"90"	"3281"	"0"	"3281"	"0"	"c.3281C>A"	"r.(?)"	"p.(Ser1094Ter)"	""
"0000931753"	"00010464"	"70"	"4696"	"0"	"4696"	"0"	"c.4696C>A"	"r.(?)"	"p.(Arg1566Ser)"	""
"0000931754"	"00010464"	"70"	"3762"	"0"	"3764"	"0"	"c.3762_3764del"	"r.(?)"	"p.(Asp1254del)"	""
"0000931755"	"00010464"	"70"	"4118"	"0"	"4118"	"0"	"c.4118T>C"	"r.(?)"	"p.(Met1373Thr)"	""
"0000931756"	"00010464"	"70"	"4193"	"0"	"4193"	"0"	"c.4193C>A"	"r.(?)"	"p.(Ser1398Tyr)"	""
"0000931757"	"00010464"	"70"	"4724"	"0"	"4724"	"0"	"c.4724G>C"	"r.(?)"	"p.(Cys1575Ser)"	""
"0000931758"	"00010464"	"70"	"4174"	"0"	"4174"	"0"	"c.4174G>A"	"r.(?)"	"p.(Glu1392Lys)"	""
"0000931759"	"00010464"	"70"	"4186"	"0"	"4186"	"0"	"c.4186T>A"	"r.(?)"	"p.(Phe1396Ile)"	""
"0000931760"	"00010464"	"70"	"4187"	"0"	"4189"	"0"	"c.4187_4189del"	"r.(?)"	"p.(Phe1396del)"	""
"0000931761"	"00010464"	"70"	"4187"	"0"	"4189"	"0"	"c.4187_4189del"	"r.(?)"	"p.(Phe1396del)"	""
"0000931762"	"00010464"	"70"	"4222"	"0"	"4222"	"0"	"c.4222T>C"	"r.(?)"	"p.(Cys1408Arg)"	""
"0000931763"	"00010464"	"70"	"3444"	"0"	"3444"	"0"	"c.3444T>G"	"r.(?)"	"p.(Asn1148Lys)"	""
"0000931764"	"00010464"	"70"	"4568"	"0"	"4568"	"0"	"c.4568G>C"	"r.(?)"	"p.(Arg1523Pro)"	""
"0000931765"	"00010464"	"50"	"1264"	"0"	"1264"	"0"	"c.1264G>A"	"r.(?)"	"p.(Ala422Thr)"	""
"0000931766"	"00010464"	"70"	"4540"	"0"	"4540"	"0"	"c.4540A>G"	"r.(?)"	"p.(Met1514Val)"	""
"0000931767"	"00010464"	"70"	"4254"	"0"	"4254"	"0"	"c.4254G>T"	"r.(?)"	"p.(Trp1418Cys)"	""
"0000931768"	"00010464"	"70"	"4895"	"0"	"4895"	"0"	"c.4895A>G"	"r.(?)"	"p.(Asp1632Gly)"	""
"0000931769"	"00010464"	"70"	"4708"	"0"	"4708"	"0"	"c.4708G>C"	"r.(?)"	"p.(Glu1570Gln)"	""
"0000931770"	"00010464"	"70"	"4750"	"0"	"4750"	"0"	"c.4750A>C"	"r.(?)"	"p.(Asn1584His)"	""
"0000931771"	"00010464"	"70"	"1645"	"0"	"1650"	"0"	"c.1645_1650del"	"r.(?)"	"p.(Pro549_Thr550del)"	""
"0000931772"	"00010464"	"70"	"283"	"0"	"283"	"0"	"c.283G>A"	"r.(?)"	"p.(Gly95Ser)"	""
"0000931773"	"00010464"	"70"	"283"	"0"	"283"	"0"	"c.283G>A"	"r.(?)"	"p.(Gly95Ser)"	""
"0000931774"	"00010464"	"70"	"283"	"0"	"283"	"0"	"c.283G>A"	"r.(?)"	"p.(Gly95Ser)"	""
"0000951054"	"00010464"	"30"	"1130"	"0"	"1130"	"0"	"c.1130C>T"	"r.(?)"	"p.(Ala377Val)"	""
"0000951055"	"00010464"	"30"	"2401"	"0"	"2401"	"0"	"c.2401G>A"	"r.(?)"	"p.(Ala801Thr)"	""
"0000969258"	"00010464"	"10"	"2283"	"0"	"2285"	"0"	"c.2283_2285dup"	"r.(?)"	"p.(Thr762dup)"	""
"0000982838"	"00010464"	"30"	"712"	"0"	"712"	"0"	"c.712A>G"	"r.(?)"	"p.(Thr238Ala)"	""
"0000982839"	"00010464"	"30"	"2477"	"0"	"2477"	"0"	"c.2477C>G"	"r.(?)"	"p.(Ser826Cys)"	""
"0000982840"	"00010464"	"30"	"4611"	"-9"	"4611"	"-9"	"c.4611-9G>A"	"r.(=)"	"p.(=)"	""
"0001003728"	"00010464"	"70"	"316"	"0"	"316"	"0"	"c.316C>T"	"r.(?)"	"p.(Gln106*)"	""
"0001003729"	"00010464"	"30"	"583"	"0"	"583"	"0"	"c.583C>G"	"r.(?)"	"p.(Pro195Ala)"	""
"0001003730"	"00010464"	"30"	"596"	"0"	"596"	"0"	"c.596G>A"	"r.(?)"	"p.(Arg199Gln)"	""
"0001003731"	"00010464"	"50"	"806"	"0"	"806"	"0"	"c.806C>T"	"r.(?)"	"p.(Ala269Val)"	""
"0001003732"	"00010464"	"30"	"904"	"0"	"904"	"0"	"c.904C>T"	"r.(?)"	"p.(Arg302Cys)"	""
"0001003733"	"00010464"	"30"	"909"	"5"	"909"	"5"	"c.909+5G>T"	"r.spl?"	"p.?"	""
"0001003734"	"00010464"	"30"	"1204"	"0"	"1204"	"0"	"c.1204A>T"	"r.(?)"	"p.(Ser402Cys)"	""
"0001003735"	"00010464"	"50"	"1240"	"0"	"1240"	"0"	"c.1240G>A"	"r.(?)"	"p.(Glu414Lys)"	""
"0001003736"	"00010464"	"30"	"1355"	"0"	"1355"	"0"	"c.1355C>T"	"r.(?)"	"p.(Ala452Val)"	""
"0001003737"	"00010464"	"90"	"1416"	"0"	"1417"	"0"	"c.1416_1417del"	"r.(?)"	"p.(Cys473Serfs*36)"	""
"0001003738"	"00010464"	"30"	"1522"	"0"	"1522"	"0"	"c.1522A>C"	"r.(?)"	"p.(Thr508Pro)"	""
"0001003739"	"00010464"	"50"	"1966"	"0"	"1966"	"0"	"c.1966G>T"	"r.(?)"	"p.(Val656Leu)"	""
"0001003740"	"00010464"	"50"	"1967"	"0"	"1967"	"0"	"c.1967T>C"	"r.(?)"	"p.(Val656Ala)"	""
"0001003741"	"00010464"	"30"	"1975"	"0"	"1975"	"0"	"c.1975G>A"	"r.(?)"	"p.(Gly659Arg)"	""
"0001003742"	"00010464"	"30"	"2006"	"0"	"2006"	"0"	"c.2006G>A"	"r.(?)"	"p.(Arg669Gln)"	""
"0001003743"	"00010464"	"50"	"2159"	"0"	"2159"	"0"	"c.2159C>G"	"r.(?)"	"p.(Ala720Gly)"	""
"0001003744"	"00010464"	"30"	"2171"	"0"	"2171"	"0"	"c.2171C>A"	"r.(?)"	"p.(Pro724Gln)"	""
"0001003745"	"00010464"	"30"	"2234"	"0"	"2234"	"0"	"c.2234C>T"	"r.(?)"	"p.(Thr745Ile)"	""
"0001003746"	"00010464"	"30"	"2282"	"0"	"2282"	"0"	"c.2282C>G"	"r.(?)"	"p.(Thr761Ser)"	""
"0001003747"	"00010464"	"30"	"2455"	"0"	"2455"	"0"	"c.2455C>T"	"r.(?)"	"p.(Arg819Trp)"	""
"0001003748"	"00010464"	"30"	"2638"	"0"	"2638"	"0"	"c.2638C>G"	"r.(?)"	"p.(Arg880Gly)"	""
"0001003749"	"00010464"	"30"	"2680"	"0"	"2680"	"0"	"c.2680A>G"	"r.(?)"	"p.(Thr894Ala)"	""
"0001003750"	"00010464"	"30"	"2803"	"0"	"2803"	"0"	"c.2803C>T"	"r.(?)"	"p.(Pro935Ser)"	""
"0001003751"	"00010464"	"50"	"3029"	"0"	"3029"	"0"	"c.3029C>G"	"r.(?)"	"p.(Pro1010Arg)"	""
"0001003752"	"00010464"	"30"	"3107"	"0"	"3107"	"0"	"c.3107C>T"	"r.(?)"	"p.(Pro1036Leu)"	""
"0001003753"	"00010464"	"50"	"3346"	"0"	"3346"	"0"	"c.3346G>A"	"r.(?)"	"p.(Glu1116Lys)"	""
"0001003754"	"00010464"	"30"	"3533"	"0"	"3533"	"0"	"c.3533G>T"	"r.(?)"	"p.(Arg1178Leu)"	""
"0001003755"	"00010464"	"50"	"3625"	"0"	"3625"	"0"	"c.3625C>T"	"r.(?)"	"p.(Arg1209*)"	""
"0001003756"	"00010464"	"30"	"4587"	"0"	"4587"	"0"	"c.4587C>A"	"r.(?)"	"p.(Asp1529Glu)"	""
"0001003757"	"00010464"	"30"	"4963"	"0"	"4963"	"0"	"c.4963G>C"	"r.(?)"	"p.(Gly1655Arg)"	""
"0001015630"	"00010464"	"30"	"3357"	"0"	"3357"	"0"	"c.3357C>T"	"r.(?)"	"p.(=)"	""
"0001017446"	"00010464"	"70"	"2041"	"0"	"2041"	"0"	"c.2041C>T"	"r.(?)"	"p.(Gln681*)"	"12"
"0001027067"	"00010464"	"90"	"2506"	"0"	"2506"	"0"	"c.2506C>T"	"r.(?)"	"p.(Gln836*)"	""
"0001027068"	"00010464"	"30"	"4017"	"-3"	"4017"	"-3"	"c.4017-3C>T"	"r.spl?"	"p.?"	""
"0001042209"	"00010464"	"30"	"160"	"0"	"160"	"0"	"c.160C>T"	"r.(?)"	"p.(Pro54Ser)"	""
"0001042210"	"00010464"	"30"	"711"	"7"	"711"	"7"	"c.711+7G>A"	"r.(=)"	"p.(=)"	""
"0001042211"	"00010464"	"50"	"2271"	"0"	"2285"	"0"	"c.2271_2285del"	"r.(?)"	"p.(Thr758_Thr762del)"	""
"0001042212"	"00010464"	"30"	"3533"	"0"	"3533"	"0"	"c.3533G>C"	"r.(?)"	"p.(Arg1178Pro)"	""
"0001042213"	"00010464"	"30"	"3567"	"9"	"3567"	"9"	"c.3567+9G>T"	"r.(=)"	"p.(=)"	""
"0001055819"	"00010464"	"50"	"1054"	"0"	"1054"	"0"	"c.1054G>T"	"r.(?)"	"p.(Ala352Ser)"	""
"0001055820"	"00010464"	"50"	"1055"	"0"	"1055"	"0"	"c.1055C>T"	"r.(?)"	"p.(Ala352Val)"	""
"0001055821"	"00010464"	"30"	"2626"	"0"	"2626"	"0"	"c.2626G>A"	"r.(?)"	"p.(Gly876Arg)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 116
"{{screeningid}}"	"{{variantid}}"
"0000302787"	"0000666141"
"0000302789"	"0000666143"
"0000310811"	"0000685829"
"0000313112"	"0000694846"
"0000313113"	"0000694847"
"0000313114"	"0000694848"
"0000313115"	"0000694849"
"0000313116"	"0000694850"
"0000313117"	"0000694851"
"0000313118"	"0000694852"
"0000313119"	"0000694853"
"0000313120"	"0000694854"
"0000313121"	"0000694855"
"0000313122"	"0000694856"
"0000386680"	"0000814360"
"0000398889"	"0000831170"
"0000398889"	"0000831171"
"0000434962"	"0000920881"
"0000436642"	"0000927714"
"0000436643"	"0000927715"
"0000436644"	"0000927716"
"0000436645"	"0000927717"
"0000436646"	"0000927718"
"0000436647"	"0000927719"
"0000436648"	"0000927720"
"0000436649"	"0000927721"
"0000436650"	"0000927722"
"0000436651"	"0000927723"
"0000436652"	"0000927724"
"0000436653"	"0000927725"
"0000436965"	"0000931690"
"0000436966"	"0000931691"
"0000436967"	"0000931692"
"0000436968"	"0000931693"
"0000436969"	"0000931694"
"0000436970"	"0000931695"
"0000436971"	"0000931696"
"0000436972"	"0000931697"
"0000436973"	"0000931698"
"0000436974"	"0000931699"
"0000436975"	"0000931700"
"0000436976"	"0000931701"
"0000436977"	"0000931702"
"0000436978"	"0000931703"
"0000436979"	"0000931704"
"0000436980"	"0000931705"
"0000436981"	"0000931706"
"0000436982"	"0000931707"
"0000436983"	"0000931708"
"0000436984"	"0000931709"
"0000436985"	"0000931710"
"0000436986"	"0000931711"
"0000436987"	"0000931712"
"0000436988"	"0000931713"
"0000436989"	"0000931714"
"0000436990"	"0000931715"
"0000436991"	"0000931716"
"0000436992"	"0000931717"
"0000436993"	"0000931718"
"0000436994"	"0000931719"
"0000436995"	"0000931720"
"0000436996"	"0000931721"
"0000436997"	"0000931722"
"0000436998"	"0000931723"
"0000436999"	"0000931724"
"0000437000"	"0000931725"
"0000437001"	"0000931726"
"0000437002"	"0000931727"
"0000437003"	"0000931728"
"0000437004"	"0000931729"
"0000437005"	"0000931730"
"0000437006"	"0000931731"
"0000437007"	"0000931732"
"0000437008"	"0000931733"
"0000437009"	"0000931734"
"0000437010"	"0000931735"
"0000437011"	"0000931736"
"0000437012"	"0000931737"
"0000437013"	"0000931738"
"0000437014"	"0000931739"
"0000437015"	"0000931740"
"0000437016"	"0000931741"
"0000437017"	"0000931742"
"0000437018"	"0000931743"
"0000437019"	"0000931744"
"0000437020"	"0000931745"
"0000437021"	"0000931746"
"0000437022"	"0000931747"
"0000437023"	"0000931748"
"0000437024"	"0000931749"
"0000437025"	"0000931750"
"0000437026"	"0000931751"
"0000437027"	"0000931752"
"0000437028"	"0000931753"
"0000437029"	"0000931754"
"0000437030"	"0000931755"
"0000437031"	"0000931756"
"0000437032"	"0000931757"
"0000437033"	"0000931758"
"0000437034"	"0000931759"
"0000437035"	"0000931760"
"0000437036"	"0000931761"
"0000437037"	"0000931762"
"0000437038"	"0000931763"
"0000437039"	"0000931764"
"0000437040"	"0000931765"
"0000437041"	"0000931766"
"0000437042"	"0000931767"
"0000437043"	"0000931768"
"0000437044"	"0000931769"
"0000437045"	"0000931770"
"0000437046"	"0000931771"
"0000437047"	"0000931772"
"0000437048"	"0000931773"
"0000437049"	"0000931774"
"0000459423"	"0001017446"