### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CNOT1)
# 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}}"
"CNOT1"	"CCR4-NOT transcription complex, subunit 1"	"16"	"q21"	"unknown"	"NC_000016.9"	"UD_136019660103"	""	"https://www.LOVD.nl/CNOT1"	""	"1"	"7877"	"23019"	"604917"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/CNOT1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2020-06-27 17:29:44"	"00006"	"2026-02-06 11:55:49"


## 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}}"
"00005398"	"CNOT1"	"transcript variant 1"	"003"	"NM_016284.4"	""	"NP_057368.3"	""	""	""	"-333"	"8143"	"7131"	"58663790"	"58553850"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00438"	"HPE"	"holoprosencephaly (HPE)"	""	"236100"	""	""	""	"00662"	"2014-06-30 10:33:45"	"00006"	"2015-12-04 07:41:19"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"06317"	"HPE12"	"Holoprosencephaly 12, with or without pancreatic agenesis"	"AD"	"618500"	""	""	""	"00006"	"2021-12-10 23:20:41"	""	""
"06882"	"VIBOS"	"Vissers-Bodmer syndrome"	"AD"	"619033"	""	""	""	"00006"	"2021-12-13 14:57:26"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"CNOT1"	"06317"
"CNOT1"	"06882"


## Individuals ## Do not remove or alter this header ##
## Count = 46
"{{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}}"
"00019840"	""	""	""	"1"	""	"00705"	"{PMID:Gilissen 2014:24896178}"	""	"?"	"?"	""	""	"0"	""	""	""	""
"00305515"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 1"
"00305516"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, maternal mosaicism"	"M"	""	""	""	"0"	""	""	""	"Individual 2"
"00305517"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 3"
"00305518"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 4"
"00305519"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 5"
"00305520"	""	""	""	"2"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, affected mother/daugther"	"F"	""	""	""	"0"	""	""	""	"Individual 6 (daughter)"
"00305521"	""	""	"00305520"	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"mother"	"F"	""	""	""	"0"	""	""	""	"Individual 7 (mother)"
"00305522"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 8"
"00305523"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 9"
"00305524"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, adopted"	"F"	""	""	""	"0"	""	""	""	"Individual 10"
"00305525"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	"1d"	"0"	""	""	""	"Individual 11"
"00305526"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected"	"F"	""	""	""	"0"	""	""	""	"Individual 12"
"00305527"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 13"
"00305528"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 14"
"00305529"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 15"
"00305530"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 16"
"00305531"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 17"
"00305532"	""	""	""	"2"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, affected mother/son"	"M"	""	""	""	"0"	""	""	""	"Individual 18 (son)"
"00305533"	""	""	"00305532"	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"mother"	"F"	""	""	""	"0"	""	""	""	"Individual 19 (mother)"
"00305534"	""	""	""	"1"	""	"00006"	"{PMID:Kruszka 2019:31006510}, {PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	"United States"	""	"0"	""	""	""	"Pat1;Individual 20"
"00305535"	""	""	""	"1"	""	"00006"	"{PMID:Kruszka 2019:31006510}, {PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"Pat2;Individual 21"
"00305536"	""	""	""	"1"	""	"00006"	"{PMID:De Franko 2019:31006513}, {PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat3;Individual 22"
"00305537"	""	""	""	"1"	""	"00006"	"{PMID:De Franko 2019:31006513}, {PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected"	"F"	""	""	""	"0"	""	""	""	"Pat1;Individual 23"
"00305538"	""	""	""	"1"	""	"00006"	"{PMID:De Franko 2019:31006513}, {PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	"00y00m87d"	"0"	""	""	""	"Pat2;Individual 24"
"00305539"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 25"
"00305540"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 26"
"00305541"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 27"
"00305542"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 28"
"00305543"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 29"
"00305544"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 30"
"00305545"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 31"
"00305546"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 32"
"00305547"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 33"
"00305548"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 34"
"00305549"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	""	""	"0"	""	""	""	"Individual 35"
"00305550"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 36"
"00305551"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 37"
"00305552"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 38"
"00305553"	""	""	""	"1"	""	"00006"	"{PMID:Vissers 2020:32553196}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"M"	""	""	""	"0"	""	""	""	"Individual 39"
"00335047"	""	""	""	"1"	""	"01164"	""	""	"M"	"?"	"Turkey"	""	"0"	""	""	""	"175672"
"00372565"	""	""	""	"1"	""	"00006"	"{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}"	"2-generation family, 1 affected, unaffected parents"	"M"	""	""	""	"0"	""	""	""	"Pat9"
"00375635"	""	""	""	"1"	""	"01164"	""	"prenatal analysis of fet 1 of 2."	"?"	""	"Germany"	""	"0"	""	""	""	"181708"
"00395419"	""	""	""	"1"	""	"01164"	""	""	"M"	"no"	"Germany"	""	"0"	""	""	""	"188611"
"00472217"	""	""	""	"1"	""	"04653"	"Verebi et al. (submitted)"	""	"F"	""	"France"	""	"0"	""	""	""	""
"00472218"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 46
"{{individualid}}"	"{{diseaseid}}"
"00019840"	"00139"
"00305515"	"05611"
"00305516"	"05611"
"00305517"	"05611"
"00305518"	"05611"
"00305519"	"05611"
"00305520"	"05611"
"00305521"	"05611"
"00305522"	"05611"
"00305523"	"05611"
"00305524"	"05611"
"00305525"	"05611"
"00305526"	"05611"
"00305527"	"05611"
"00305528"	"05611"
"00305529"	"05611"
"00305530"	"05611"
"00305531"	"05611"
"00305532"	"05611"
"00305533"	"05611"
"00305534"	"05611"
"00305535"	"05611"
"00305536"	"05611"
"00305537"	"05611"
"00305538"	"05611"
"00305539"	"05611"
"00305540"	"05611"
"00305541"	"05611"
"00305542"	"05611"
"00305543"	"05611"
"00305544"	"05611"
"00305545"	"05611"
"00305546"	"05611"
"00305547"	"05611"
"00305548"	"05611"
"00305549"	"05611"
"00305550"	"05611"
"00305551"	"05611"
"00305552"	"05611"
"00305553"	"05611"
"00335047"	"00438"
"00372565"	"05611"
"00375635"	"00438"
"00395419"	"06882"
"00472217"	"06882"
"00472218"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00438, 05611, 06317, 06882
## Count = 46
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000020338"	"00139"	"00019840"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""
"0000231364"	"05611"	"00305515"	"00006"	"Isolated (sporadic)"	"13y"	"birth at term, weight 3100 (normal), OFC 34 (normal); height 125 (-3.8 SD), weight 24.5 (-2.1 SD), OFC 51.9 (normal); intellectual disability IQ79; developmental delay; motor delay (mild); speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit disorder, obsessive compulsive disorder; sleep disturbances; facial abnormalities; dysphagia/feeding difficulties; dust mite allergy; GH deficit. Treated with GH: \'Flat feet, billateral pes valgus; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231365"	"05611"	"00305516"	"00006"	"Isolated (sporadic)"	"8y"	"birth 39w, weight 2610 (<-2 SD), OFC 35 (normal); height 118 (-2.5 SD) growth hormone treatment, weight 22.4 (normal), OFC 53 (normal); mild intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; hypotonia; attention deficit hyperactivity disorder, aggressive behavior, impulsivity; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Unilateral testicular ectopia; Partial growth hormone deficit, treated with growth hormones; Hygroma coli, delayed bone age; no hearing abnormalities; Glaucoma, severe myopia; Hypertrichosis, delayed teeth eruption; High pitched voice; MRI-brain no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231366"	"05611"	"00305517"	"00006"	"Isolated (sporadic)"	"5y3m"	"birth 37+0w, weight 3374 (normal); , weight 17.6 (normal), OFC 51 (normal); mild intellectual disability; developmental delay; motor delay; no speech delay; -; no epilepsy; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; Ankle valgus; no hearing abnormalities; Strabismus (surgical correction); ptosis (surgical correction); Two large café au lait macules; Pes planus; Cleft palate"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231367"	"05611"	"00305518"	"00006"	"Isolated (sporadic)"	"16y"	"NA, weight 2300 (<-2.0 SD); height 135 (<-2.0 SD), weight 32 (<-2.0 SD); mild intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231368"	"05611"	"00305519"	"00006"	"Isolated (sporadic)"	"22y"	"birth 37w, weight 3286 (normal); height 156.5 (-2.7 SD), weight 68.9 (normal), OFC 62  (+2.7 SD); mild intellectual disability; developmental delay; motor delay; no speech delay; no dysarthria; epilepsy, iIntermittent shaking R side of body, EEG-abnormal activity in temporal area L; hypotonia; no spasticity; no ataxia; autism spectrum disorder, obsessive compulsive disorderno behavioral disturbanceslike, difficulties social behavior; no sleep disturbances; facial abnormalities; G-tube feeding until age 16; Mild central obesity; No clinodactyly; Poor fine motor skills; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231369"	"05611"	"00305520"	"00006"	"Familial, autosomal dominant"	"11y4m"	"birth 35w, weight 2560 (normal); height 131.5 (-2 SD), weight 34 (normal), OFC 54.5 (normal); learning disabilities; developmental delay; motor delay (sitting at 12 months, walking at 20 months); speech delay; no dysarthria; no epilepsy; hypotonia (in infancy); no spasticity; no ataxia; attention deficit disorder; Frequent nightmares; facial abnormalities; no dysphagia/feeding difficulties; Ovoid shape of lumbar vertebrae; no hearing abnormalities; no vision abnormalities; Hypertrichosis; normal hands, normal feet; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231370"	"05611"	"00305521"	"00006"	"Unknown"	"30y6m"	"birth at term, weight 3660 (normal); height 152 (-2 SD), weight 74 (+3.39 SD), OFC 56 (normal); learning disabilities; developmental delay; motor delay (walking 20 months); no speech delay; no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; Frequent nightmares; facial abnormalities; no dysphagia/feeding difficulties; no hearing abnormalities; no vision abnormalities; Hypertrichosis; normal hands, normal feet"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231371"	"05611"	"00305522"	"00006"	"Isolated (sporadic)"	"19y"	"birth 40w, weight 2863 (normal), OFC 34.9 (normal); height 147.5 (<-2 SD), weight 42.5 (<-2 SD), OFC normal; intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit hyperactivity disorder/autism spectrum disorder/anxiety, bipolar disorder, obsessive compulsive disorder; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; dysphagia/feeding difficulties; no pulmomal abnormalities; Food and environmental allergies; no endocrine abnormalities; Possible segmentation anomaly of C2-C3; no hearing abnormalities; no vision abnormalities; Birth mark lower back (tanned, slightly depressed, 4x0.8cm), multiple additional teeth ; Short 4th metacarpal L; MRI-brain no holoprosencephaly, Arachnoid cysts"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231372"	"05611"	"00305523"	"00006"	"Isolated (sporadic)"	"13y"	"birth 37+5w, weight 3685 (normal), OFC 34 (normal); height 140.5 (-2.3 SD), OFC 55.6 (normal); no intellectual disability; no developmental delay; motor delay; no speech delay; no dysarthria;  no epilepsy; hypotonia;  no spasticity;  no ataxia; autism spectrum disorder, obsessive compulsive disorder, attention deficit hyperactivity disorder;  no sleep disturbances; facial abnormalities"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231373"	"05611"	"00305524"	"00006"	"Unknown"	"9y"	"birth at term, weight 3530 (normal); height 133.6 (normal) growth hormone treatment, weight 25 (normal), OFC 53.4 (normal); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; epilepsy, mildly abnormal EEG; hypotonia; no spasticity; ataxia; Repetitive behavior, self mutilation, sensory processing problems, episodes of rocking/head banging; Severe: can go without sleep for days, sleeps 3no sleep disturbances5 hours in a night; facial abnormalities; Still\'s murmur, 1st degree AV block, enlarged coronary sinus suggestive of persistent LSVC (hemodynamically insignificant); Nocturnal incontinence, overactive bladder; Constipation; no pulmomal abnormalities; Raspberry and seasonal allergy, frequent fevers and vomiting; Growth hormone therapy; Bowing of legs, hyperextensible legs, general hypermobility, long neck, removal of benign cyst from neck, able to dislocate jaw, bruises very easily; no hearing abnormalities; Esotropia, hypermetropia of both eyes; Hirsutism, delayed dentition, all toenails mildly dysplastic, hypoplasia of 5th toenail bilaterally; Tapered fingers, pes planus bilaterally; Regression of speech and motor milestones; MRI-brain no holoprosencephaly, L frontal lobe grey matter heterotopia"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231374"	"05611"	"00305525"	"00006"	"Isolated (sporadic)"	"1d"	"birth 38+1w, weight 2590 (normal), OFC 34 (normal); 1d-deceased (respiratory failure)y; facial abnormalities; L ventriculomegaly + persistent ductus botalli; Flat and hypoplastic labia majora; Hepatomegaly, nonspecific, small solid liver lesion (L), echogenic, possible fatty pancreas, possible adrenal mass or hemorrhage R ; Deceased on first day of life due to respiratory failure, small lungs; Artrogryposis, gracile, elongated long bones and multiple fractures. Dislocated hips with deep dimples on lateral aspects; Naevus flammeus (nose/eyelids). Hypertrichosis extremities. Lower leg skin indentation suggestive of cord wrapping. Nails normal.; Small hands, tapered fingers, camptodactyly. Absent palmar creases R, thumb adducted R. 5th finger distal phalanges hypoplastic. Small feet, bilaterally deformed, probable L club foot. Toes small and flexion contractures.; Maternal chlamydia infection GA 10 weeks; MRI-brain no holoprosencephaly, Slight ventriculomegaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231375"	"05611"	"00305526"	"00006"	"Unknown"	"10y"	"birth 39+4 w, weight 2400 (<-2.5 SD), OFC 37 (normal); height Normal, weight Normal, OFC (+3.0 SD); mild/moderate intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; attention deficit disorder; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Tendency to chew long time before swallowing; Late ossification of anterior fontanel; Hyperkinesia; MRI-brain no holoprosencephaly, Abnormal corpus callosum with hypertrophic anterior part and thin posterior part, Virchow Robin"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231376"	"05611"	"00305527"	"00006"	"Isolated (sporadic)"	"9y"	"birth 36+3w, weight 2240 (normal); height 134.6 (normal), weight 24.9 (normal), OFC 54.2 (normal); intellectual disability; developmental delay; motor delay (poor head control, delayed milestones, however walking 15no motor delay16 months); speech delay (first words at 26 months, at age 2.5 15 words vocabulary); no dysarthria; no epilepsy; hypotonia (in infancy); no spasticity; no ataxia; no behavioral disturbances; OSA, on continuous positive airway pressure; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; Failure to thrive, poor weight gain; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no skeletal, muscle and soft tissue abnormalities; Conductive hearing loss, eustachian tube dysfunction; Papilledema; no ectodermal abnormalities; Single transverse palmar crease R; Idiopathic intracranial hypertension; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231377"	"05611"	"00305528"	"00006"	"Isolated (sporadic)"	"2y"	"birth 37w, weight 2710 (normal); height 89 (normal), weight 13 (normal), OFC 51 (normal); intellectual disability; developmental delay; motor delay; speech delay; no epilepsy, febrile seizures, EEG-no epileptic activity; hypotonia; Self injurious behaviour, head banging; facial abnormalities; no dysphagia/feeding difficulties;  Hearing aids; no vision abnormalities; no ectodermal abnormalities; normal hands, normal feet; MRI-brain no holoprosencephaly, some aspecific white matter abnormalities"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231378"	"05611"	"00305529"	"00006"	"Isolated (sporadic)"	"1y8m"	"birth 37w, weight 2130 (normal), OFC 27.5  (normal); height 72 (-3 SD), weight 5.6 (-5.6 SD), OFC 34.4 (-9 SD); severe intellectual disability; developmental delay (severe); motor delay (severe); speech delay (severe); dysarthria (severe); epilepsy, one epileptic episode; hypotonia; no spasticity; no ataxia; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no dysphagia/feeding difficulties; MRI-brain no holoprosencephaly, severe microcephaly, pachygyria"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231379"	"05611"	"00305530"	"00006"	"Isolated (sporadic)"	"14y"	"birth 38w, weight 3230 (normal); height 170 (normal), weight 48 (normal), OFC 52.3 (normal); mild intellectual disability; developmental delay; motor delay; speech delay; dysarthria; no epilepsy; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; Flat feet, unilateral hip dysplasia; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; Single transverse palmar  crease; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231380"	"05611"	"00305531"	"00006"	"Isolated (sporadic)"	"3y3m"	"birth 36w, OFC; height 93.4 (normal), weight 14.3 (normal), OFC 54 (normal); no intellectual disability; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Coarctatio aortae; no dysphagia/feeding difficulties; no hearing abnormalities; no vision abnormalities; Hemangioma on occiput; Clinodactyly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231381"	"05611"	"00305532"	"00006"	"Familial, autosomal dominant"	"4y8m"	"birth 37+6w, weight 2725 (normal), OFC 33.4 (normal); height 96 (<-2 SD), weight 16 (normal), OFC 48.8 (<-2 SD): developmental delay; no motor delay; speech delay; dysarthria; no epilepsy; hypotonia (in infancy); no spasticity; no ataxia; Low frustration tolerance; no sleep disturbances; facial abnormalities; Hypoplastic L heart + Ascending Aorta hypoplasia; Prenatal nephromegaly; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no endocrine abnormalities; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; Bilateral ungual hypoplasia + brachydactyly of 5th fingers, overlapping toe; MRI-brain no holoprosencephaly, Discrete bilateral enlargement subarachnoid spaces, presumably due to transient defective absorption of CSF"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231382"	"05611"	"00305533"	"00006"	"Unknown"	"40y"	"birth 41w, OFC; height 155 (normal), OFC 54 (normal); learning disability, borderline cognitive function; developmental delay; motor delay; speech delay (speech therapy childhood); no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; normal hands, normal feet"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231383"	"05611"	"00305534"	"00006"	"Isolated (sporadic)"	"01y04m"	"see paper; ..., birth 35w, OFC; Microcephaly; developmental delay; motor delay; speech delay; no epilepsy, Isolated seizure associated with fentanyl administration, normal EEG; hypotonia; facial abnormalities; Pancreatic exocrine deficiency treated with enzyme therapy; Pancreatic insufficiency: neonatal diabetes mellitus requiring insulin therapy; Bilateral conductive and sensorineural hearing loss (R>L), CT scan showed ossicle anomalies; no vision abnormalities; Intrauterine growth restriction; MRI-brain semilobar"	""	""	""	""	""	""	""	"holoprosencephaly"	"neurodevelopmental delay"
"0000231384"	"05611"	"00305535"	"00006"	"Isolated (sporadic)"	"06y06m"	"see paper; ..., birth at term, OFC; Microcephaly; developmental delay; motor delay; no epilepsy; hypotonia; spasticity; facial abnormalities; No diabetes mellitus, no diabetes insipidus; Sensorineural hearing loss; no vision abnormalities; MRI-brain semilobar"	""	""	""	""	""	""	""	"holoprosencephaly"	"neurodevelopmental delay"
"0000231385"	"05611"	"00305536"	"00006"	"Isolated (sporadic)"	"16y"	"see paper; ..., birth 39w, weight 1900 (<-3 SD); no intellectual disability; no developmental delay; no motor delay; no speech delay; no dysarthria; facial abnormalities; Exocrine pancreatic insufficiency, agenesis of pancreas, transient elevated liver enzymes; Diabetes mellitus (diagnose 3 weeks), agenesis of pancreas; Facial appearance could be consistent with holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231386"	"05611"	"00305537"	"00006"	"Unknown"	"11y"	"see paper; ..., birth 38+4w, weight 1340 (<-3 SD), OFC 30 (-3 SD); height 87 (3;1yrs -2 SD), 152.2 (13y9m normal with growth hormone treatment), weight 11.6 (3y1m; normal), 55 (13y9m; normal); developmental delay (mild); epilepsy, 3y-complex focal seizures; facial abnormalities; no cardiac abnormalities; Agenesis of pancreas: exocrine pancreatic insufficiency, transient elevation of liver function test, agenesis of galbladder; Agenesis of pancreas: diabetes mellitus (age day 1 at diagnosis), on growth hormone therapy; Muscle weakness neonatal period; Intrauterine growth retardation; MRI-brain partial/lobular, see PMID 31006513: dysplastic frontal horns of lateral ventricles, absent septum pellucidum,  hypoplasia of corpus callosum"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231387"	"05611"	"00305538"	"00006"	"Isolated (sporadic)"	"00y00m87d"	"see paper; birth 38w, weight 1100 (<-3 SD); 87d-deceased; no epilepsy; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; Exocrine pancreatic insufficiency (2nd week of life), complete agenesis of pancreas and gallbladder: Diabetes mellitus on day 1, complete agenesis of pancreas; Dystrophic appearance, prominent sternum; abducted thumbs; Intrauterine growth retardation; MRI-brain semilobar, postmortem brain findings see PMID: 28525974, summarizing: polymicrogyria, fusion frontal lobes, absent corpus callosum"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231388"	"05611"	"00305539"	"00006"	"Isolated (sporadic)"	"9y"	"birth 39w, weight 3033 (normal), OFC 35 (normal); height 131 (normal), weight 40 (normal), OFC 50 (normal); severe intellectual disability; developmental delay; motor delay; speech delay (severe); dysarthria; epilepsy, Lennox-Gastaut; hypotonia (in infancy); no spasticity; ataxia; autism spectrum disorder, aggresive behavior; Snoring; facial abnormalities; no cardiac abnormalities: NA; dysphagia/feeding difficulties: NA: NA: NA; Brownish enamel of secondary teeth: MRI-brain no holoprosencephaly, Arnold Chiari (surgery 14 months)"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231389"	"05611"	"00305540"	"00006"	"Isolated (sporadic)"	"19y"	"birth 38w, weight 2890 (normal), OFC 33.5 (normal); height 174 (normal), weight 86 (normal), OFC 59.5 (normal); intellectual disability; no developmental delay; no motor delay; no speech delay; no dysarthria; no epilepsy; no hypotonia; spasticity; no ataxia; Encopresis; no sleep disturbances; facial abnormalities; no dysphagia/feeding difficulties; Choreadystonia; MRI-brain no holoprosencephaly, agenesis corpus callosum"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231390"	"05611"	"00305541"	"00006"	"Isolated (sporadic)"	"4y9m"	"birth 39w, weight 3200 (normal); height 114 (normal), OFC 50 (normal); intellectual disability IQ50; developmental delay; no motor delay; speech delay (severe); NA (absent speech); no epilepsy; no hypotonia; no spasticity; no ataxia; autism spectrum disorder, attention deficit hyperactivity disorder, obsessive compulsive disorderno behavioral disturbanceslike, overeating, dysphoria, stereotypy; sleep disturbances; no facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; No allergies; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; Eczema; normal hands, normal feet; Toe walker"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231391"	"05611"	"00305542"	"00006"	"Isolated (sporadic)"	"3y1m"	"birth 38+5w, weight 3250 (normal), OFC 34.3 (normal); height 101.5 (normal), weight 17 (normal), OFC 53 (normal); developmental delay; no motor delay; speech delay (mixed receptive/expressive language impairment); no dysarthria; no epilepsy; no hypotonia; no spasticity; no ataxia; autism spectrum disorder, motor stereotypies; feeding difficulties; no sleep disturbances; no facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; Mild dysphagia/feeding difficulties, no G-tube; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; normal hands, normal feet; Hyperkinesia, abnormal acceleration of growth (length/OFC); birth parameters ~30th centile, currently at ~+1.9 SD; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231392"	"05611"	"00305543"	"00006"	"Isolated (sporadic)"	"4y2m"	"birth 40w, weight 3480 (normal); height 181 (+2.0 SD), weight 84 (normal), OFC 58 (normal); intellectual disability IQ70; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy, subclinical EEG abnormalities in past; no hypotonia; no spasticity; no ataxia; social-emotional problems; Sleep disturbances related to stress, uses melatonine; facial abnormalities; Bicuspid aortic valve with mild stenosis; no urogenital abnormalities; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; Mild scoliosis; no hearing abnormalities; no vision abnormalities; Thin hair; Big feet (size 45-46), volar pads, clinodactyly 4th + 5th toes; Easily fatigued; MRI-brain no holoprosencephaly, Rathkes cleft remnant"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231393"	"05611"	"00305544"	"00006"	"Isolated (sporadic)"	"6y"	"birth 39w, weight 2693 (normal); height 88.9 (-5 SD), weight 13.3 (-4 SD), OFC 48.3 (normal); severe intellectual disability; developmental delay; motor delay; speech delay; NA (absent speech); epilepsy, generalized convulsive, intractable; hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Patent foramen ovale ; Hydronephrosis, neurogenic bladder, VU reflux; GERD, neurogenic bowel; G-tube dependent; Trach and ventilator dependent secondary to chronic respiratory failure, OSA; no immunological abnormalities;  Hypothyroidism; no skeletal, muscle and soft tissue abnormalities;  Bilateral hearing loss; Cortical blindness, myopia; no ectodermal abnormalities; small, tapered fingers, 2nd toe overlaps 3rd, R-side: 3rd overlaps 4th; MRI-brain no holoprosencephaly, Dandy walker, cerebellar vermis hypoplasia, enlarged posterior fossa + expanded 4th ventricle, hypoplasia of brainstem. Generalized supratentorial white/grey volume loss (white and gray), thinning + elevation of corpus callosum. Stable findings."	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231394"	"05611"	"00305545"	"00006"	"Isolated (sporadic)"	"6y"	"birth 39w, weight 2989 (normal); height 121.3 (-2.0 SD), weight 27.1 (normal), OFC 50.6 (normal); mild intellectual disability; developmental delay; motor delay; speech delay; dysarthria; epilepsy, intractable complex partial seizures; hypotonia; no spasticity; ataxia; no behavioral disturbances; sleep disturbances; facial abnormalities; no cardiac abnormalities; no urogenital abnormalities; dysphagia/feeding difficulties; asthma; no immunological abnormalities; no endocrine abnormalities; Mild conductive hearing loss; Mild strabismus; normal hands, normal feet; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231395"	"05611"	"00305546"	"00006"	"Isolated (sporadic)"	"4y"	"birth 40+5w, weight 3748 (normal), OFC 36 (normal); height 112  (+2.1 SD), weight 18.7 (normal), OFC 52.5 (normal); no intellectual disability; developmental delay; motor delay; speech delay (p1 receptive and expressive speech); no dysarthria; no epilepsy; hypotonia; spasticity; no ataxia; no behavioral disturbances; sleep disturbances; facial abnormalities; no cardiac abnormalities; Excessive drooling as a toddler; Lax joints; Pes planovalgus; Developmental coordination disorder, easily fatigued; MRI-brain no holoprosencephaly, enlarged Virchow-Robin spaces"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231396"	"05611"	"00305547"	"00006"	"Isolated (sporadic)"	"10y"	"birth 40+5w, weight 4360 (normal); height 112.4 (normal), weight 16.4 (normal), OFC 47.3 (-2.4 SD); intellectual disability IQ55; developmental delay; motor delay; speech delay; no dysarthria;  no epilepsy;  hypotonia;  no spasticity;  no ataxia; autism spectrum disorder;  facial abnormalities; dysphagia/feeding difficulties; Simian crease; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231397"	"05611"	"00305548"	"00006"	"Isolated (sporadic)"	"10y"	"birth 32w, weight 1984 (normal); height 174.0 (normal), weight 75.6 (normal), OFC 53.7 (normal); intellectual disability IQ70-80; developmental delay; motor delay; speech delay; epilepsy, due to frontal lobe dysplasia;  no hypotonia;  no spasticity;  no ataxia; autism spectrum disorder, attention deficit disorder, anxiety disorder;  no sleep disturbances; no facial abnormalities; no cardiac abnormalities;  no hearing abnormalities; Astigmatism/myopia; Twin; MRI-brain no holoprosencephaly, frontal lobe dysplasia"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231398"	"05611"	"00305549"	"00006"	"Isolated (sporadic)"	"7y9m"	"birth 41+3w, weight 2580 (<-3 SD); height 106.5 (-3 to -4SD), weight 16.8 (normal), OFC 46,3 (-5 SD); intellectual disability; developmental delay; motor delay (walking age 2yrs); speech delay (single words at 7); dysarthria (slurred speech); no epilepsy; hypotonia; no spasticity; ataxia; No stranger danger awareness, dislikes busy environments; On melatonin; facial abnormalities; no urogenital abnormalities; PEG feeding tube; More often respiratory tract infections than usual; No; no hearing abnormalities; Diminished sight eye L, very photo sensitive; no ectodermal abnormalities; normal hands, normal feet; MRI-brain no holoprosencephaly, Chiari 1"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231399"	"05611"	"00305550"	"00006"	"Isolated (sporadic)"	"6y"	"birth 40w euthocic, weight 2490 (-3 SD), OFC 32 (-2 SD); height 96 (normal), weight 13.4 (normal), OFC 45.5 (normal); mild intellectual disability; developmental delay (mild; at 22 months a mental age of 15 months); motor delay; speech delay; no epilepsy; hypotonia; no spasticity; no ataxia; Impulsivity, aggresive behavior, tantrums; no sleep disturbances; facial abnormalities; Patent foramen ovale; L kidney agenesis; no gastrointestinal abnormalities; no dysphagia/feeding difficulties; no pulmomal abnormalities; no immunological abnormalities; no endocrine abnormalities; 13 pairs of ribs; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; Bilateral single palmar crease, mild brachydactyly; Umbilical hernia; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231400"	"05611"	"00305551"	"00006"	"Isolated (sporadic)"	"6y"	"birth  37+3w, weight 3150 (normal), OFC 34 (normal); height 105 (<-2.0 SD), weight 14.5 (<-2 SD), OFC 52 (normal); severe intellectual disability; developmental delay; speech delay; dysarthria; no epilepsy; hypotonia; spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; no urogenital abnormalities; no gastrointestinal abnormalities; +; no pulmomal abnormalities; no immunological abnormalities; Hypoglymecemia; no skeletal, muscle and soft tissue abnormalities; no hearing abnormalities; no vision abnormalities; no ectodermal abnormalities; Choreadystonia; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231401"	"05611"	"00305552"	"00006"	"Isolated (sporadic)"	"22y"	"birth 40w, weight 2948 (normal), OFC (<-2.0 SD); height 161 (<-3.0 SD), weight 49.4 (normal), OFC 49.7 (<-3.0 SD); moderate intellectual disability; developmental delay; no motor delay; speech delay; no dysarthria; 2y-epilepsy; no hypotonia; no spasticity; no ataxia; no behavioral disturbances; no sleep disturbances; facial abnormalities; Aortic root dilation, on losartan: NA; no dysphagia/feeding difficulties: NA: Scoliosis; no hearing abnormalities; Myopia: NA; Dystonia; MRI-brain no holoprosencephaly, Chiari 1 malformation, microcephaly"	""	""	""	""	""	""	""	""	"neurodevelopmental delay"
"0000231402"	"05611"	"00305553"	"00006"	"Unknown"	"11y"	"birth 36+5w, weight 2940 (normal), OFC 36.5 (+2.0 SD); height 148.1 (-2.0 SD), weight 35.1 (normal), OFC 56.7 (normal); intellectual disability IQ56; developmental delay; motor delay; speech delay; no dysarthria; no epilepsy; hypotonia; no spasticity; ataxia; autism spectrum disorder, difficulties social behavior; no sleep disturbances; facial abnormalities; no cardiac abnormalities; Cryptorchidism, cyst in kidney; Hepatomegaly in neonatal period; Aterior drooling; no pulmomal abnormalities; no immunological abnormalities; Big fontanel, wide cranial sutures; no hearing abnormalities; Myopia; Very light blond hair; Brachydactyly and clinodactyly 5th fingers; Perinatal asphyxia; MRI-brain normal, no holoprosencephaly"	""	""	""	""	""	""	""	""	"epileptic encephalopathy"
"0000252762"	"00438"	"00335047"	"01164"	"Unknown"	"04y"	"(+) Epicanthus,(+) Abnormality of the forehead,(+) Hypertelorism,(+) Sloping forehead,(+) Long philtrum,(+) Abnormal eyelid morphology,(+) Synophrys,(+) Delayed speech and language development,(+) Global developmental delay,(+) Motor delay,(+) Hoarse voice,(+) Short toe,(+) Disproportionate short stature,(+) Short stature,(+) Short finger,(+) Abnormality of dental structure,(+) Short digit,(+) Cognitive impairment"	""	""	""	""	""	""	""	""	""
"0000267878"	"05611"	"00372565"	"00006"	"Unknown"	"5y"	"weight +2 SD, height +2 SD, OFC +2 SD; mild developmental delay/intellectual disability (IQ ND); walk-18m; speech delay; autism spectrum disorder; attention deficit hyperactivity disorder; no epilepsy; dysmorphic featuresc; bilateral radio-ulnar synostosis"	""	""	""	""	""	""	""	""	"syndromic intellectual disability"
"0000270848"	"00438"	"00375635"	"01164"	"Unknown"	""	"(+) Abnormality of prenatal development or birth,(+) Lissencephaly,(+) Holoprosencephaly"	""	""	""	""	""	""	""	""	"prenatal"
"0000289273"	"06882"	"00395419"	"01164"	"Isolated (sporadic)"	""	"Macrocephaly, Global developmental delay, Abnormal facial shape"	""	"02y"	""	""	""	""	""	""	""
"0000357026"	"06882"	"00472217"	"04653"	"Isolated (sporadic)"	""	"Myopathy"	""	""	""	""	""	""	""	"Vissers-Bodmer syndrome"	"Congenital myopathy"
"0000357027"	"05611"	"00472218"	"03544"	"Isolated (sporadic)"	""	"HP:0001249, HP:0000717, HP:0001511, HP:0008897, HP:0000410, HP:0000185, HP:0000486, HP:0000537, HP:0000316, HP:0002553, HP:0000417, HP:0000347, HP:0000369, HP:0000358, HP:0010769, HP:0010055, HP:0011304"	""	""	""	""	""	""	""	"VIBOS"	"complex NDD"


## Screenings ## Do not remove or alter this header ##
## Count = 46
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000019832"	"00019840"	"1"	"00705"	"00705"	"2014-09-02 14:41:48"	""	""	"SEQ"	"DNA"	""	""
"0000306644"	"00305515"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306645"	"00305516"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306646"	"00305517"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306647"	"00305518"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306648"	"00305519"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306649"	"00305520"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306650"	"00305521"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306651"	"00305522"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306652"	"00305523"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306653"	"00305524"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306654"	"00305525"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306655"	"00305526"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306656"	"00305527"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306657"	"00305528"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306658"	"00305529"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306659"	"00305530"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306660"	"00305531"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306661"	"00305532"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306662"	"00305533"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306663"	"00305534"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306664"	"00305535"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306665"	"00305536"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306666"	"00305537"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306667"	"00305538"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306668"	"00305539"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306669"	"00305540"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306670"	"00305541"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306671"	"00305542"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306672"	"00305543"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306673"	"00305544"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306674"	"00305545"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306675"	"00305546"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306676"	"00305547"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306677"	"00305548"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306678"	"00305549"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306679"	"00305550"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306680"	"00305551"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306681"	"00305552"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000306682"	"00305553"	"1"	"00006"	"00006"	"2020-06-28 10:52:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000336276"	"00335047"	"1"	"01164"	"01164"	"2021-03-03 11:11:42"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000373798"	"00372565"	"1"	"00006"	"00006"	"2021-05-10 09:29:40"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376832"	"00375635"	"1"	"01164"	"01164"	"2021-06-14 16:53:13"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000396657"	"00395419"	"1"	"01164"	"01164"	"2021-12-06 14:08:02"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000473887"	"00472217"	"1"	"04653"	"04653"	"2026-01-16 16:02:27"	""	""	"SEQ-NG-I"	"DNA"	""	"WGS"
"0000473888"	"00472218"	"1"	"03544"	"03544"	"2026-01-17 08:15:21"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 44
"{{screeningid}}"	"{{geneid}}"
"0000019832"	"CNOT1"
"0000306644"	"CNOT1"
"0000306645"	"CNOT1"
"0000306646"	"CNOT1"
"0000306647"	"CNOT1"
"0000306648"	"CNOT1"
"0000306649"	"CNOT1"
"0000306650"	"CNOT1"
"0000306651"	"CNOT1"
"0000306652"	"CNOT1"
"0000306653"	"CNOT1"
"0000306654"	"CNOT1"
"0000306655"	"CNOT1"
"0000306656"	"CNOT1"
"0000306657"	"CNOT1"
"0000306658"	"CNOT1"
"0000306659"	"CNOT1"
"0000306660"	"CNOT1"
"0000306661"	"CNOT1"
"0000306662"	"CNOT1"
"0000306663"	"CNOT1"
"0000306664"	"CNOT1"
"0000306665"	"CNOT1"
"0000306666"	"CNOT1"
"0000306667"	"CNOT1"
"0000306668"	"CNOT1"
"0000306669"	"CNOT1"
"0000306670"	"CNOT1"
"0000306671"	"CNOT1"
"0000306672"	"CNOT1"
"0000306673"	"CNOT1"
"0000306674"	"CNOT1"
"0000306675"	"CNOT1"
"0000306676"	"CNOT1"
"0000306677"	"CNOT1"
"0000306678"	"CNOT1"
"0000306679"	"CNOT1"
"0000306680"	"CNOT1"
"0000306681"	"CNOT1"
"0000306682"	"CNOT1"
"0000336276"	"CNOT1"
"0000373798"	"SIN3B"
"0000376832"	"CNOT1"
"0000396657"	"CNOT1"


## 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 = 114
"{{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}}"
"0000040286"	"0"	"30"	"16"	"58564225"	"58564225"	"subst"	"0"	"00705"	"CNOT1_000001"	"g.58564225C>A"	""	"{PMID:Gilissen 2014:24896178}"	""	"Leu2068Leu"	""	"De novo"	""	""	"0"	""	""	"g.58530321C>A"	""	"likely benign"	""
"0000253604"	"0"	"10"	"16"	"58577328"	"58577328"	"del"	"0"	"01943"	"CNOT1_000002"	"g.58577328del"	""	""	""	"CNOT1(NM_206999.2):c.4629delT (p.L1544Cfs*11)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58543424del"	""	"benign"	""
"0000324813"	"0"	"50"	"16"	"58577662"	"58577662"	"subst"	"0"	"01804"	"CNOT1_000004"	"g.58577662A>G"	""	""	""	"CNOT1(NM_001265612.1):c.4268T>C (p.(Phe1423Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.58543758A>G"	""	"VUS"	""
"0000558679"	"0"	"70"	"16"	"58583702"	"58583702"	"subst"	"0"	"02327"	"CNOT1_000008"	"g.58583702A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58549798A>G"	""	"likely pathogenic"	""
"0000623502"	"0"	"70"	"16"	"58610468"	"58610468"	"subst"	"0"	"02325"	"CNOT1_000009"	"g.58610468G>A"	""	""	""	"CNOT1(NM_016284.5):c.1603C>T (p.R535C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.58576564G>A"	""	"likely pathogenic"	""
"0000670326"	"0"	"90"	"16"	"58633166"	"58633166"	"subst"	"0"	"00006"	"CNOT1_000035"	"g.58633166G>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58599262G>A"	""	"pathogenic (dominant)"	""
"0000670327"	"0"	"90"	"16"	"58633166"	"58633166"	"subst"	"0"	"00006"	"CNOT1_000035"	"g.58633166G>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	"maternal mosaicism"	"De novo"	""	""	"0"	""	""	"g.58599262G>A"	""	"pathogenic (dominant)"	""
"0000670328"	"0"	"90"	"16"	"58633166"	"58633166"	"subst"	"0"	"00006"	"CNOT1_000035"	"g.58633166G>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58599262G>A"	""	"pathogenic (dominant)"	""
"0000670329"	"0"	"90"	"16"	"58633166"	"58633166"	"subst"	"0"	"00006"	"CNOT1_000035"	"g.58633166G>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58599262G>A"	""	"pathogenic (dominant)"	""
"0000670330"	"0"	"90"	"16"	"58633145"	"58633145"	"subst"	"0"	"00006"	"CNOT1_000034"	"g.58633145G>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58599241G>A"	""	"pathogenic (dominant)"	""
"0000670331"	"21"	"90"	"16"	"58633138"	"58633138"	"subst"	"0"	"00006"	"CNOT1_000033"	"g.58633138A>G"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.58599234A>G"	""	"pathogenic (dominant)"	""
"0000670332"	"0"	"90"	"16"	"58633138"	"58633138"	"subst"	"0"	"00006"	"CNOT1_000033"	"g.58633138A>G"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.58599234A>G"	""	"pathogenic (dominant)"	""
"0000670333"	"0"	"90"	"16"	"58622702"	"58622702"	"subst"	"0"	"00006"	"CNOT1_000032"	"g.58622702C>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58588798C>A"	""	"pathogenic (dominant)"	""
"0000670334"	"0"	"90"	"16"	"58620478"	"58620481"	"del"	"0"	"00006"	"CNOT1_000031"	"g.58620478_58620481del"	""	"{PMID:Vissers 2020:32553196}"	""	"608_611delTAGA"	""	"De novo"	""	""	"0"	""	""	"g.58586574_58586577del"	""	"pathogenic (dominant)"	""
"0000670335"	"0"	"90"	"16"	"58615276"	"58615276"	"subst"	"0"	"00006"	"CNOT1_000030"	"g.58615276A>T"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.58581372A>T"	""	"pathogenic (dominant)"	""
"0000670336"	"0"	"90"	"16"	"58583781"	"58583782"	"ins"	"0"	"00006"	"CNOT1_000027"	"g.58583781_58583782insTTTAGCTTACCTTA"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58549877_58549878insTTTAGCTTACCTTA"	""	"pathogenic (dominant)"	""
"0000670337"	"0"	"90"	"16"	"58581155"	"58581161"	"del"	"0"	"00006"	"CNOT1_000025"	"g.58581155_58581161del"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.58547251_58547257del"	""	"pathogenic (dominant)"	""
"0000670338"	"0"	"90"	"16"	"58581089"	"58581089"	"subst"	"0"	"00006"	"CNOT1_000023"	"g.58581089C>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58547185C>A"	""	"pathogenic (dominant)"	""
"0000670339"	"0"	"90"	"16"	"58581085"	"58581085"	"subst"	"0"	"00006"	"CNOT1_000005"	"g.58581085C>T"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58547181C>T"	""	"pathogenic (dominant)"	""
"0000670340"	"0"	"90"	"16"	"58577809"	"58577809"	"subst"	"0"	"00006"	"CNOT1_000022"	"g.58577809T>G"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58543905T>G"	""	"pathogenic (dominant)"	""
"0000670341"	"0"	"90"	"16"	"58575405"	"58575405"	"subst"	"0"	"00006"	"CNOT1_000017"	"g.58575405C>G"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58541501C>G"	""	"pathogenic (dominant)"	""
"0000670342"	"0"	"90"	"16"	"58562530"	"58562530"	"dup"	"0"	"00006"	"CNOT1_000006"	"g.58562530dup"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58528626dup"	""	"pathogenic (dominant)"	""
"0000670343"	"0"	"90"	"16"	"58559940"	"58559968"	"dup"	"0"	"00006"	"CNOT1_000016"	"g.58559940_58559968dup"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.58526036_58526064dup"	""	"pathogenic (dominant)"	""
"0000670344"	"0"	"90"	"16"	"58559940"	"58559968"	"dup"	"0"	"00006"	"CNOT1_000016"	"g.58559940_58559968dup"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.58526036_58526064dup"	""	"pathogenic (dominant)"	""
"0000670345"	"0"	"90"	"16"	"58610468"	"58610468"	"subst"	"0"	"00006"	"CNOT1_000009"	"g.58610468G>A"	""	"{PMID:Kruszka 2019:31006510}, {PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58576564G>A"	""	"pathogenic (dominant)"	""
"0000670346"	"0"	"90"	"16"	"58610468"	"58610468"	"subst"	"0"	"00006"	"CNOT1_000009"	"g.58610468G>A"	""	"{PMID:Kruszka 2019:31006510}, {PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58576564G>A"	""	"pathogenic (dominant)"	""
"0000670347"	"0"	"90"	"16"	"58610468"	"58610468"	"subst"	"0"	"00006"	"CNOT1_000009"	"g.58610468G>A"	""	"{PMID:De Franko 2019:31006513}, {PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58576564G>A"	""	"pathogenic (dominant)"	""
"0000670348"	"0"	"90"	"16"	"58610468"	"58610468"	"subst"	"0"	"00006"	"CNOT1_000009"	"g.58610468G>A"	""	"{PMID:De Franko 2019:31006513}, {PMID:Vissers 2020:32553196}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.58576564G>A"	""	"pathogenic (dominant)"	""
"0000670349"	"0"	"90"	"16"	"58610468"	"58610468"	"subst"	"0"	"00006"	"CNOT1_000009"	"g.58610468G>A"	""	"{PMID:De Franko 2019:31006513}, {PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58576564G>A"	""	"pathogenic (dominant)"	""
"0000670350"	"0"	"90"	"16"	"58608568"	"58608568"	"subst"	"0"	"00006"	"CNOT1_000010"	"g.58608568G>C"	""	"{PMID:Vissers 2020:32553196}"	""	""	"carries de novo variants in ATP6V0C, XPO7 and ETNK1"	"De novo"	""	""	"0"	""	""	"g.58574664G>C"	""	"pathogenic (dominant)"	""
"0000670351"	"0"	"90"	"16"	"58589357"	"58589357"	"subst"	"0"	"00006"	"CNOT1_000029"	"g.58589357C>T"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58555453C>T"	""	"pathogenic (dominant)"	""
"0000670352"	"0"	"90"	"16"	"58589348"	"58589348"	"subst"	"0"	"00006"	"CNOT1_000028"	"g.58589348G>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58555444G>A"	""	"pathogenic (dominant)"	""
"0000670353"	"0"	"50"	"16"	"58585581"	"58585581"	"subst"	"0"	"00006"	"CNOT1_000012"	"g.58585581G>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58551677G>A"	""	"VUS"	""
"0000670354"	"0"	"90"	"16"	"58583702"	"58583702"	"subst"	"0"	"00006"	"CNOT1_000008"	"g.58583702A>G"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58549798A>G"	""	"pathogenic (dominant)"	""
"0000670355"	"0"	"90"	"16"	"58581546"	"58581546"	"subst"	"0"	"00006"	"CNOT1_000026"	"g.58581546T>C"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58547642T>C"	""	"pathogenic (dominant)"	""
"0000670356"	"0"	"90"	"16"	"58581118"	"58581118"	"subst"	"0"	"00006"	"CNOT1_000024"	"g.58581118T>C"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58547214T>C"	""	"pathogenic (dominant)"	""
"0000670357"	"0"	"90"	"16"	"58577690"	"58577690"	"subst"	"0"	"00006"	"CNOT1_000021"	"g.58577690T>C"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58543786T>C"	""	"pathogenic (dominant)"	""
"0000670358"	"0"	"90"	"16"	"58577662"	"58577662"	"subst"	"0"	"00006"	"CNOT1_000004"	"g.58577662A>G"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58543758A>G"	""	"pathogenic (dominant)"	""
"0000670359"	"0"	"90"	"16"	"58577513"	"58577513"	"subst"	"0"	"00006"	"CNOT1_000020"	"g.58577513G>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58543609G>A"	""	"pathogenic (dominant)"	""
"0000670360"	"0"	"90"	"16"	"58576425"	"58576425"	"subst"	"0"	"00006"	"CNOT1_000019"	"g.58576425T>A"	""	"{PMID:Vissers 2020:32553196}"	""	""	"parents unavailable"	"De novo"	""	""	"0"	""	""	"g.58542521T>A"	""	"pathogenic (dominant)"	""
"0000670361"	"0"	"90"	"16"	"58575491"	"58575491"	"subst"	"0"	"00006"	"CNOT1_000018"	"g.58575491A>C"	""	"{PMID:Vissers 2020:32553196}"	""	""	"parents unavailable"	"De novo"	""	""	"0"	""	""	"g.58541587A>C"	""	"pathogenic (dominant)"	""
"0000670362"	"0"	"90"	"16"	"58559220"	"58559220"	"subst"	"4.06128E-6"	"00006"	"CNOT1_000015"	"g.58559220T>C"	""	"{PMID:Vissers 2020:32553196}"	""	""	"father unavailable"	"De novo"	""	""	"0"	""	""	"g.58525316T>C"	""	"pathogenic (dominant)"	""
"0000670363"	"0"	"90"	"16"	"58589134"	"58594329"	"del"	"0"	"00006"	"CNOT1_000013"	"g.(58587765_58589134)_(58594329_58608512)del"	""	"{PMID:Vissers 2020:32553196}"	""	"del ex17-21"	""	"De novo"	""	""	"0"	""	"16q21(58589134_58594329)x1"	""	""	"pathogenic (dominant)"	""
"0000670364"	"0"	"90"	"16"	"55741501"	"62145478"	"del"	"0"	"00006"	"CNOT1_000014"	"g.(?_55741501)_(62145478_?)del"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	"46,XY,del(16)(q12.2q21).arr 16q12.2q21(55,741,501-62,145,478)x1"	""	""	"pathogenic (dominant)"	""
"0000670374"	"0"	"70"	"16"	"58585113"	"58585113"	"subst"	"0"	"00006"	"CNOT1_000011"	"g.58585113C>G"	""	"{PMID:Vissers 2020:32553196}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58551209C>G"	""	"VUS"	""
"0000680618"	"0"	"50"	"16"	"58608967"	"58608967"	"subst"	"0"	"01804"	"CNOT1_000036"	"g.58608967G>A"	""	""	""	"CNOT1(NM_001265612.1):c.1771C>T (p.(Arg591Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692103"	"0"	"30"	"16"	"58589817"	"58589817"	"subst"	"0.000637724"	"02325"	"CNOT1_000038"	"g.58589817T>C"	""	""	""	"CNOT1(NM_001265612.2):c.2465-5A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725885"	"0"	"30"	"16"	"58550418"	"58550418"	"subst"	"0.000207344"	"01943"	"CNOT1_000039"	"g.58550418A>T"	""	""	""	"SETD6(NM_001160305.2):c.513A>T (p.T171=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725886"	"0"	"70"	"16"	"58571003"	"58571003"	"subst"	"0"	"02327"	"CNOT1_000040"	"g.58571003G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000725887"	"0"	"50"	"16"	"58571071"	"58571071"	"subst"	"1.22167E-5"	"02329"	"CNOT1_000041"	"g.58571071C>T"	""	""	""	"CNOT1(NM_016284.5):c.5468G>A (p.R1823H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725888"	"0"	"10"	"16"	"58577328"	"58577328"	"dup"	"0"	"01943"	"CNOT1_000042"	"g.58577328dup"	""	""	""	"CNOT1(NM_206999.2):c.4629dupT (p.L1544Sfs*22)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000735551"	"0"	"70"	"16"	"58564164"	"58564164"	"subst"	"0"	"01164"	"CNOT1_000043"	"g.58564164G>A"	""	""	""	""	"ACMG: PVS1, PM2_Sup: class 4"	"Germline/De novo (untested)"	"?"	""	""	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000784065"	"0"	"50"	"16"	"58573788"	"58573788"	"subst"	"0"	"00006"	"CNOT1_000044"	"g.58573788T>C"	""	"{PMID:Latypova 2021:33811806}, {DOI:Latypova 2021:10.1016/j.ajhg.2021.03.017}"	""	"4861A>G (Ile1621Val)"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"VUS"	""
"0000788884"	"0"	"90"	"16"	"58610468"	"58610468"	"subst"	"0"	"01164"	"CNOT1_000009"	"g.58610468G>A"	""	"PMID:31006513; PMID:31006510; PMID: 32553196"	""	""	"ACMG: PS2_VSTR, PS3_MOD, PM2_SUP, recurrent de novo variant"	"Germline/De novo (untested)"	"?"	""	""	""	""	""	""	"pathogenic (dominant)"	"ACMG"
"0000807496"	"0"	"50"	"16"	"58612662"	"58612662"	"subst"	"7.72082E-5"	"02325"	"CNOT1_000045"	"g.58612662T>C"	""	""	""	"CNOT1(NM_001265612.2):c.1525A>G (p.I509V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807497"	"0"	"50"	"16"	"58621701"	"58621701"	"subst"	"0"	"02327"	"CNOT1_000046"	"g.58621701G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000807498"	"0"	"50"	"16"	"58621737"	"58621737"	"subst"	"4.06464E-6"	"02325"	"CNOT1_000047"	"g.58621737T>C"	""	""	""	"CNOT1(NM_001265612.2):c.256A>G (p.N86D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000828308"	"0"	"70"	"16"	"58581085"	"58581085"	"subst"	"0"	"01164"	"CNOT1_000005"	"g.58581085C>T"	""	"PMID: 32553196"	""	""	"ACMG: PS2, PS4_MOD, PM2_SUP, PP3"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	"ACMG"
"0000839989"	"0"	"70"	"16"	"58564253"	"58564253"	"subst"	"0"	"03779"	"CNOT1_000048"	"g.58564253T>C"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000854576"	"0"	"50"	"16"	"58581475"	"58581475"	"subst"	"0"	"02327"	"CNOT1_000049"	"g.58581475G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000864874"	"0"	"50"	"16"	"58585542"	"58585542"	"subst"	"8.13312E-6"	"02325"	"CNOT1_000050"	"g.58585542G>A"	""	""	""	"CNOT1(NM_001265612.2):c.3137C>T (p.T1046M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000864875"	"0"	"90"	"16"	"58589426"	"58589426"	"subst"	"0"	"02325"	"CNOT1_000051"	"g.58589426G>A"	""	""	""	"CNOT1(NM_001265612.2):c.2605C>T (p.Q869*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000893103"	"0"	"50"	"16"	"58565944"	"58565944"	"subst"	"0"	"02327"	"CNOT1_000052"	"g.58565944G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893104"	"0"	"50"	"16"	"58614595"	"58614595"	"del"	"0"	"02329"	"CNOT1_000053"	"g.58614595del"	""	""	""	"CNOT1(NM_016284.5):c.1285delG (p.V429Lfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893105"	"0"	"50"	"16"	"58620619"	"58620619"	"subst"	"0"	"02329"	"CNOT1_000054"	"g.58620619A>G"	""	""	""	"CNOT1(NM_016284.5):c.467T>C (p.L156P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914656"	"0"	"30"	"16"	"58575472"	"58575472"	"subst"	"2.43718E-5"	"02325"	"CNOT1_000055"	"g.58575472T>C"	""	""	""	"CNOT1(NM_001265612.2):c.4718A>G (p.N1573S), CNOT1(NM_016284.5):c.4733A>G (p.(Asn1578Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000914657"	"0"	"50"	"16"	"58583783"	"58583783"	"subst"	"1.22043E-5"	"02325"	"CNOT1_000056"	"g.58583783G>A"	""	""	""	"CNOT1(NM_001265612.2):c.3347C>T (p.T1116M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914658"	"0"	"90"	"16"	"58610468"	"58610468"	"subst"	"0"	"02329"	"CNOT1_000009"	"g.58610468G>A"	""	""	""	"CNOT1(NM_016284.5):c.1603C>T (p.R535C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000914659"	"0"	"70"	"16"	"58621248"	"58621248"	"subst"	"0"	"02327"	"CNOT1_000057"	"g.58621248C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000914660"	"0"	"50"	"16"	"58633206"	"58633206"	"subst"	"8.12348E-6"	"02325"	"CNOT1_000058"	"g.58633206T>G"	""	""	""	"CNOT1(NM_001265612.2):c.36A>C (p.Q12H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000926314"	"0"	"70"	"16"	"58554874"	"58554874"	"dup"	"0"	"02327"	"CNOT1_000059"	"g.58554874dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000968429"	"0"	"30"	"16"	"58577327"	"58577328"	"del"	"0"	"02329"	"CNOT1_000061"	"g.58577327_58577328del"	""	""	""	"CNOT1(NM_206999.3):c.4628_4629delTT (p.F1543Sfs*22)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981968"	"0"	"30"	"16"	"58561786"	"58561786"	"subst"	"0"	"01804"	"CNOT1_000065"	"g.58561786G>A"	""	""	""	"CNOT1(NM_016284.5):c.6453+593C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981969"	"0"	"30"	"16"	"58577329"	"58577329"	"del"	"9.07807E-5"	"01804"	"CNOT1_000066"	"g.58577329del"	""	""	""	"CNOT1(NM_206999.3):c.4616del (p.(Cys1539PhefsTer16))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981970"	"0"	"30"	"16"	"58581484"	"58581484"	"subst"	"6.11342E-5"	"01804"	"CNOT1_000067"	"g.58581484G>T"	""	""	""	"CNOT1(NM_016284.5):c.3625C>A (p.(Pro1209Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981971"	"0"	"30"	"16"	"58585190"	"58585190"	"dup"	"0"	"01804"	"CNOT1_000068"	"g.58585190dup"	""	""	""	"CNOT1(NM_016284.5):c.3202-3dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981972"	"0"	"30"	"16"	"58585632"	"58585643"	"dup"	"0"	"01804"	"CNOT1_000069"	"g.58585632_58585643dup"	""	""	""	"CNOT1(NM_016284.5):c.3065_3076dup (p.(Ala1022_Gln1025dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981973"	"0"	"50"	"16"	"58588662"	"58588662"	"subst"	"0"	"01804"	"CNOT1_000070"	"g.58588662G>A"	""	""	""	"CNOT1(NM_016284.5):c.2891+493C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981974"	"0"	"50"	"16"	"58592389"	"58592389"	"subst"	"0"	"01804"	"CNOT1_000071"	"g.58592389A>T"	""	""	""	"CNOT1(NM_016284.5):c.2320T>A (p.(Ser774Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981975"	"0"	"30"	"16"	"58612596"	"58612596"	"subst"	"0"	"01804"	"CNOT1_000072"	"g.58612596A>T"	""	""	""	"CNOT1(NM_016284.5):c.1584+7T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981976"	"0"	"30"	"16"	"58616788"	"58616788"	"subst"	"2.43686E-5"	"01804"	"CNOT1_000073"	"g.58616788C>A"	""	""	""	"CNOT1(NM_016284.5):c.953G>T (p.(Ser318Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981977"	"0"	"30"	"16"	"58631393"	"58631393"	"subst"	"0"	"01804"	"CNOT1_000074"	"g.58631393G>C"	""	""	""	"CNOT1(NM_016284.5):c.102+1747C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002447"	"0"	"50"	"16"	"58564147"	"58564147"	"subst"	"0"	"01804"	"CNOT1_000075"	"g.58564147T>G"	""	""	""	"CNOT1(NM_016284.4):c.6279+3A>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002448"	"0"	"30"	"16"	"58571878"	"58571878"	"subst"	"0"	"01804"	"CNOT1_000076"	"g.58571878A>C"	""	""	""	"CNOT1(NM_001265612.1):c.5316T>G (p.(Asp1772Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002449"	"0"	"50"	"16"	"58572105"	"58572105"	"subst"	"2.84472E-5"	"01804"	"CNOT1_000077"	"g.58572105T>C"	""	""	""	"CNOT1(NM_016284.4):c.5201A>G (p.(Asn1734Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002450"	"0"	"30"	"16"	"58577467"	"58577467"	"subst"	"0.00114424"	"01804"	"CNOT1_000078"	"g.58577467C>G"	""	""	""	"CNOT1(NM_206999.2):c.4478G>C (p.(Cys1493Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002451"	"0"	"30"	"16"	"58579381"	"58579381"	"subst"	"0"	"01804"	"CNOT1_000079"	"g.58579381G>A"	""	""	""	"CNOT1(NM_016284.4):c.4021C>T (p.(Pro1341Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002452"	"0"	"50"	"16"	"58592454"	"58592454"	"subst"	"0"	"01804"	"CNOT1_000080"	"g.58592454T>A"	""	""	""	"CNOT1(NM_016284.4):c.2255A>T (p.(Lys752Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002453"	"0"	"50"	"16"	"58608541"	"58608541"	"subst"	"2.15013E-5"	"01804"	"CNOT1_000081"	"g.58608541T>C"	""	""	""	"CNOT1(NM_016284.4):c.1951A>G (p.(Met651Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002454"	"0"	"50"	"16"	"58608951"	"58608951"	"subst"	"0"	"02325"	"CNOT1_000082"	"g.58608951T>C"	""	""	""	"CNOT1(NM_001265612.2):c.1787A>G (p.K596R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002455"	"0"	"30"	"16"	"58615359"	"58615359"	"subst"	"2.84409E-5"	"01804"	"CNOT1_000083"	"g.58615359G>A"	""	""	""	"CNOT1(NM_001265612.1):c.1105C>T (p.(Arg369Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002456"	"0"	"30"	"16"	"58620526"	"58620526"	"subst"	"0"	"01804"	"CNOT1_000084"	"g.58620526T>C"	""	""	""	"CNOT1(NM_016284.4):c.560A>G (p.(His187Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002457"	"0"	"30"	"16"	"58620599"	"58620599"	"subst"	"1.21877E-5"	"01804"	"CNOT1_000085"	"g.58620599C>T"	""	""	""	"CNOT1(NM_016284.4):c.487G>A (p.(Ala163Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001002458"	"0"	"50"	"16"	"58620604"	"58620604"	"subst"	"2.03123E-5"	"01804"	"CNOT1_000086"	"g.58620604A>G"	""	""	""	"CNOT1(NM_016284.4):c.482T>C (p.(Ile161Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002459"	"0"	"50"	"16"	"58621715"	"58621715"	"subst"	"0"	"01804"	"CNOT1_000087"	"g.58621715T>C"	""	""	""	"CNOT1(NM_016284.4):c.278A>G (p.(Tyr93Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002460"	"0"	"50"	"16"	"58622801"	"58622801"	"subst"	"0"	"01804"	"CNOT1_000088"	"g.58622801G>A"	""	""	""	"CNOT1(NM_016284.4):c.112C>T (p.(Arg38Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001002461"	"0"	"90"	"16"	"58633166"	"58633166"	"subst"	"0"	"01804"	"CNOT1_000035"	"g.58633166G>A"	""	""	""	"CNOT1(NM_001265612.1):c.76C>T (p.(Arg26*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001041224"	"0"	"30"	"16"	"58552845"	"58552845"	"subst"	"0.00164118"	"01804"	"CNOT1_000089"	"g.58552845C>T"	""	""	""	"SETD6(NM_001160305.4):c.1334C>T (p.(Ala445Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041225"	"0"	"30"	"16"	"58572704"	"58572704"	"subst"	"0.00018733"	"01804"	"CNOT1_000090"	"g.58572704A>C"	""	""	""	"CNOT1(NM_016284.5):c.5107T>G (p.(Ser1703Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041226"	"0"	"30"	"16"	"58577439"	"58577442"	"del"	"0"	"01804"	"CNOT1_000091"	"g.58577439_58577442del"	""	""	""	"CNOT1(NM_206999.3):c.4504_4507del (p.(Val1502Ilefs*18))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041227"	"0"	"50"	"16"	"58577546"	"58577546"	"subst"	"8.13015E-6"	"01804"	"CNOT1_000092"	"g.58577546T>C"	""	""	""	"CNOT1(NM_016284.5):c.4399A>G (p.(Thr1467Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041228"	"0"	"50"	"16"	"58577609"	"58577609"	"subst"	"8.13577E-6"	"01804"	"CNOT1_000093"	"g.58577609G>A"	""	""	""	"CNOT1(NM_016284.5):c.4336C>T (p.(Arg1446Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041229"	"0"	"30"	"16"	"58589811"	"58589811"	"subst"	"5.73822E-5"	"01804"	"CNOT1_000094"	"g.58589811C>T"	""	""	""	"CNOT1(NM_016284.5):c.2481G>A (p.(Ser827=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041230"	"0"	"30"	"16"	"58620380"	"58620380"	"subst"	"0"	"01804"	"CNOT1_000095"	"g.58620380A>G"	""	""	""	"CNOT1(NM_016284.5):c.637+69T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041231"	"0"	"30"	"16"	"58620554"	"58620554"	"subst"	"0.000109673"	"01804"	"CNOT1_000096"	"g.58620554T>C"	""	""	""	"CNOT1(NM_016284.5):c.532A>G (p.(Ile178Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041232"	"0"	"50"	"16"	"58621153"	"58621153"	"subst"	"0"	"01804"	"CNOT1_000097"	"g.58621153A>G"	""	""	""	"CNOT1(NM_016284.5):c.385T>C (p.(Phe129Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055617"	"0"	"30"	"16"	"58557268"	"58557268"	"subst"	"1.74371E-5"	"01804"	"CNOT1_000098"	"g.58557268G>A"	""	""	""	"CNOT1(NM_016284.5):c.6917+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055618"	"0"	"50"	"16"	"58564154"	"58564154"	"subst"	"0"	"01804"	"CNOT1_000099"	"g.58564154T>C"	""	""	""	"CNOT1(NM_016284.5):c.6275A>G (p.(Tyr2092Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001062838"	"0"	"50"	"16"	"58570931"	"58570931"	"subst"	"0"	"04653"	"CNOT1_000100"	"g.58570931G>A"	""	"Verebi et al. (submitted)"	""	""	""	"De novo"	""	""	"0"	""	""	"g.58537027G>A"	""	"VUS"	"ACMG"
"0001062839"	"0"	"90"	"16"	"58575404"	"58575404"	"subst"	"0"	"03544"	"CNOT1_000101"	"g.58575404C>T"	""	""	""	""	""	"De novo"	"-"	""	"0"	""	""	"g.58541500C>T"	"{CV:4075809}"	"pathogenic"	"ACMG"
"0001066504"	"0"	"30"	"16"	"58575472"	"58575472"	"subst"	"2.43718E-5"	"01804"	"CNOT1_000055"	"g.58575472T>C"	""	""	""	"CNOT1(NM_001265612.2):c.4718A>G (p.N1573S), CNOT1(NM_016284.5):c.4733A>G (p.(Asn1578Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001066505"	"0"	"30"	"16"	"58588710"	"58588710"	"subst"	"0"	"01804"	"CNOT1_000102"	"g.58588710C>T"	""	""	""	"CNOT1(NM_016284.5):c.2891+445G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001066506"	"0"	"50"	"16"	"58590817"	"58590817"	"subst"	"0"	"02325"	"CNOT1_000103"	"g.58590817C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001066507"	"0"	"50"	"16"	"58610428"	"58610428"	"subst"	"0"	"01804"	"CNOT1_000104"	"g.58610428C>T"	""	""	""	"CNOT1(NM_016284.5):c.1643G>A (p.(Arg548Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CNOT1
## Count = 114
"{{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}}"
"0000040286"	"00005398"	"30"	"6204"	"0"	"6204"	"0"	"c.6204G>T"	"r.(?)"	"p.(=)"	"41"
"0000253604"	"00005398"	"10"	"4434"	"195"	"4434"	"195"	"c.4434+195del"	"r.(=)"	"p.(=)"	""
"0000324813"	"00005398"	"50"	"4283"	"0"	"4283"	"0"	"c.4283T>C"	"r.(?)"	"p.(Phe1428Ser)"	""
"0000558679"	"00005398"	"70"	"3443"	"0"	"3443"	"0"	"c.3443T>C"	"r.(?)"	"p.(Leu1148Pro)"	""
"0000623502"	"00005398"	"70"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000670326"	"00005398"	"90"	"76"	"0"	"76"	"0"	"c.76C>T"	"r.(?)"	"p.(Arg26*)"	""
"0000670327"	"00005398"	"90"	"76"	"0"	"76"	"0"	"c.76C>T"	"r.(?)"	"p.(Arg26*)"	""
"0000670328"	"00005398"	"90"	"76"	"0"	"76"	"0"	"c.76C>T"	"r.(?)"	"p.(Arg26*)"	""
"0000670329"	"00005398"	"90"	"76"	"0"	"76"	"0"	"c.76C>T"	"r.(?)"	"p.(Arg26*)"	""
"0000670330"	"00005398"	"90"	"97"	"0"	"97"	"0"	"c.97C>T"	"r.(?)"	"p.(Gln33*)"	""
"0000670331"	"00005398"	"90"	"102"	"2"	"102"	"2"	"c.102+2T>C"	"r.spl"	"p.?"	""
"0000670332"	"00005398"	"90"	"102"	"2"	"102"	"2"	"c.102+2T>C"	"r.spl"	"p.?"	""
"0000670333"	"00005398"	"90"	"210"	"1"	"210"	"1"	"c.210+1G>T"	"r.spl"	"p.?"	""
"0000670334"	"00005398"	"90"	"608"	"0"	"611"	"0"	"c.608_611del"	"r.(?)"	"p.(Ile203Thrfs*32)"	""
"0000670335"	"00005398"	"90"	"1188"	"0"	"1188"	"0"	"c.1188T>A"	"r.(?)"	"p.(Tyr396*)"	""
"0000670336"	"00005398"	"90"	"3363"	"0"	"3364"	"0"	"c.3363_3364insTAAGGTAAGCTAAA"	"r.(?)"	"p.(Val1122*)"	""
"0000670337"	"00005398"	"90"	"3681"	"0"	"3687"	"0"	"c.3681_3687del"	"r.(?)"	"p.(Lys1227Asnfs*7)"	""
"0000670338"	"00005398"	"90"	"3750"	"1"	"3750"	"1"	"c.3750+1G>T"	"r.spl"	"p.?"	""
"0000670339"	"00005398"	"90"	"3750"	"5"	"3750"	"5"	"c.3750+5G>A"	"r.spl?"	"p.?"	""
"0000670340"	"00005398"	"90"	"4138"	"-2"	"4138"	"-2"	"c.4138-2A>C"	"r.spl"	"p.?"	""
"0000670341"	"00005398"	"90"	"4800"	"0"	"4800"	"0"	"c.4800G>C"	"r.(?)"	"p.(Lys1600Asn)"	""
"0000670342"	"00005398"	"90"	"6303"	"0"	"6303"	"0"	"c.6303dup"	"r.(?)"	"p.(Leu2102Serfs*4)"	""
"0000670343"	"00005398"	"90"	"6529"	"0"	"6557"	"0"	"c.6529_6557dup"	"r.(?)"	"p.(Arg2187Lysfs*63)"	""
"0000670344"	"00005398"	"90"	"6529"	"0"	"6557"	"0"	"c.6529_6557dup"	"r.(?)"	"p.(Arg2187Lysfs*63)"	""
"0000670345"	"00005398"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000670346"	"00005398"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000670347"	"00005398"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000670348"	"00005398"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000670349"	"00005398"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000670350"	"00005398"	"90"	"1924"	"0"	"1924"	"0"	"c.1924C>G"	"r.(?)"	"p.(Gln642Glu)"	""
"0000670351"	"00005398"	"90"	"2689"	"0"	"2689"	"0"	"c.2689G>A"	"r.(?)"	"p.(Glu897Lys)"	""
"0000670352"	"00005398"	"90"	"2698"	"0"	"2698"	"0"	"c.2698C>T"	"r.(?)"	"p.(Arg900Cys)"	""
"0000670353"	"00005398"	"50"	"3113"	"0"	"3113"	"0"	"c.3113C>T"	"r.(?)"	"p.(Thr1038Ile)"	""
"0000670354"	"00005398"	"90"	"3443"	"0"	"3443"	"0"	"c.3443T>C"	"r.(?)"	"p.(Leu1148Pro)"	""
"0000670355"	"00005398"	"90"	"3563"	"0"	"3563"	"0"	"c.3563A>G"	"r.(?)"	"p.(Asp1188Gly)"	""
"0000670356"	"00005398"	"90"	"3722"	"0"	"3722"	"0"	"c.3722A>G"	"r.(?)"	"p.(Lys1241Arg)"	""
"0000670357"	"00005398"	"90"	"4255"	"0"	"4255"	"0"	"c.4255A>G"	"r.(?)"	"p.(Thr1419Ala)"	""
"0000670358"	"00005398"	"90"	"4283"	"0"	"4283"	"0"	"c.4283T>C"	"r.(?)"	"p.(Phe1428Ser)"	""
"0000670359"	"00005398"	"90"	"4432"	"0"	"4432"	"0"	"c.4432C>T"	"r.(?)"	"p.(Arg1478Cys)"	""
"0000670360"	"00005398"	"90"	"4482"	"0"	"4482"	"0"	"c.4482A>T"	"r.(?)"	"p.(Gln1494His)"	""
"0000670361"	"00005398"	"90"	"4714"	"0"	"4714"	"0"	"c.4714T>G"	"r.(?)"	"p.(Tyr1572Asp)"	""
"0000670362"	"00005398"	"90"	"6647"	"0"	"6647"	"0"	"c.6647A>G"	"r.(?)"	"p.(Asn2216Ser)"	""
"0000670363"	"00005398"	"90"	"1980"	"-63"	"2891"	"-1"	"c.(1979+1_1980-63)_(2891+21_2891-1)del"	"r.?"	"p.?"	"16i_21i"
"0000670364"	"00005398"	"90"	"0"	"0"	"0"	"0"	"c.-333_*1012[0]"	"r.0"	"p.0"	""
"0000670374"	"00005398"	"70"	"3265"	"0"	"3265"	"0"	"c.3265G>C"	"r.(?)"	"p.(Val1089Leu)"	""
"0000680618"	"00005398"	"50"	"1771"	"0"	"1771"	"0"	"c.1771C>T"	"r.(?)"	"p.(Arg591Cys)"	""
"0000692103"	"00005398"	"30"	"2480"	"-5"	"2480"	"-5"	"c.2480-5A>G"	"r.spl?"	"p.?"	""
"0000725885"	"00005398"	"30"	"11575"	"0"	"11575"	"0"	"c.*4444T>A"	"r.(=)"	"p.(=)"	""
"0000725886"	"00005398"	"70"	"5536"	"0"	"5536"	"0"	"c.5536C>G"	"r.(?)"	"p.(Pro1846Ala)"	""
"0000725887"	"00005398"	"50"	"5468"	"0"	"5468"	"0"	"c.5468G>A"	"r.(?)"	"p.(Arg1823His)"	""
"0000725888"	"00005398"	"10"	"4434"	"195"	"4434"	"195"	"c.4434+195dup"	"r.(=)"	"p.(=)"	""
"0000735551"	"00005398"	"70"	"6265"	"0"	"6265"	"0"	"c.6265C>T"	"r.(?)"	"p.(Gln2089*)"	""
"0000784065"	"00005398"	"50"	"4876"	"0"	"4876"	"0"	"c.4876A>G"	"r.(?)"	"p.(Ile1626Val)"	""
"0000788884"	"00005398"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000807496"	"00005398"	"50"	"1525"	"0"	"1525"	"0"	"c.1525A>G"	"r.(?)"	"p.(Ile509Val)"	""
"0000807497"	"00005398"	"50"	"292"	"0"	"292"	"0"	"c.292C>A"	"r.(?)"	"p.(Pro98Thr)"	""
"0000807498"	"00005398"	"50"	"256"	"0"	"256"	"0"	"c.256A>G"	"r.(?)"	"p.(Asn86Asp)"	""
"0000828308"	"00005398"	"70"	"3750"	"5"	"3750"	"5"	"c.3750+5G>A"	"r.spl?"	"p.?"	"I27"
"0000839989"	"00005398"	"70"	"6178"	"-2"	"6178"	"-2"	"c.6178-2A>G"	"r.(?)"	"p.(?)"	""
"0000854576"	"00005398"	"50"	"3634"	"0"	"3634"	"0"	"c.3634C>G"	"r.(?)"	"p.(His1212Asp)"	""
"0000864874"	"00005398"	"50"	"3152"	"0"	"3152"	"0"	"c.3152C>T"	"r.(?)"	"p.(Thr1051Met)"	""
"0000864875"	"00005398"	"90"	"2620"	"0"	"2620"	"0"	"c.2620C>T"	"r.(?)"	"p.(Gln874*)"	""
"0000893103"	"00005398"	"50"	"6095"	"0"	"6095"	"0"	"c.6095C>G"	"r.(?)"	"p.(Pro2032Arg)"	""
"0000893104"	"00005398"	"50"	"1285"	"0"	"1285"	"0"	"c.1285del"	"r.(?)"	"p.(Val429Leufs*6)"	""
"0000893105"	"00005398"	"50"	"467"	"0"	"467"	"0"	"c.467T>C"	"r.(?)"	"p.(Leu156Pro)"	""
"0000914656"	"00005398"	"30"	"4733"	"0"	"4733"	"0"	"c.4733A>G"	"r.(?)"	"p.(Asn1578Ser)"	""
"0000914657"	"00005398"	"50"	"3362"	"0"	"3362"	"0"	"c.3362C>T"	"r.(?)"	"p.(Thr1121Met)"	""
"0000914658"	"00005398"	"90"	"1603"	"0"	"1603"	"0"	"c.1603C>T"	"r.(?)"	"p.(Arg535Cys)"	""
"0000914659"	"00005398"	"70"	"378"	"1"	"378"	"1"	"c.378+1G>A"	"r.spl?"	"p.?"	""
"0000914660"	"00005398"	"50"	"36"	"0"	"36"	"0"	"c.36A>C"	"r.(?)"	"p.(Gln12His)"	""
"0000926314"	"00005398"	"70"	"7119"	"0"	"7119"	"0"	"c.7119dup"	"r.(?)"	"p.(Gly2374Argfs*16)"	""
"0000968429"	"00005398"	"30"	"4434"	"194"	"4434"	"195"	"c.4434+194_4434+195del"	"r.(=)"	"p.(=)"	""
"0000981968"	"00005398"	"30"	"6453"	"593"	"6453"	"593"	"c.6453+593C>T"	"r.(=)"	"p.(=)"	""
"0000981969"	"00005398"	"30"	"4434"	"182"	"4434"	"182"	"c.4434+182del"	"r.(=)"	"p.(=)"	""
"0000981970"	"00005398"	"30"	"3625"	"0"	"3625"	"0"	"c.3625C>A"	"r.(?)"	"p.(Pro1209Thr)"	""
"0000981971"	"00005398"	"30"	"3202"	"-3"	"3202"	"-3"	"c.3202-3dup"	"r.spl?"	"p.?"	""
"0000981972"	"00005398"	"30"	"3065"	"0"	"3076"	"0"	"c.3065_3076dup"	"r.(?)"	"p.(Ala1022_Gln1025dup)"	""
"0000981973"	"00005398"	"50"	"2891"	"493"	"2891"	"493"	"c.2891+493C>T"	"r.(=)"	"p.(=)"	""
"0000981974"	"00005398"	"50"	"2320"	"0"	"2320"	"0"	"c.2320T>A"	"r.(?)"	"p.(Ser774Thr)"	""
"0000981975"	"00005398"	"30"	"1584"	"7"	"1584"	"7"	"c.1584+7T>A"	"r.(=)"	"p.(=)"	""
"0000981976"	"00005398"	"30"	"953"	"0"	"953"	"0"	"c.953G>T"	"r.(?)"	"p.(Ser318Ile)"	""
"0000981977"	"00005398"	"30"	"102"	"1747"	"102"	"1747"	"c.102+1747C>G"	"r.(=)"	"p.(=)"	""
"0001002447"	"00005398"	"50"	"6279"	"3"	"6279"	"3"	"c.6279+3A>C"	"r.spl?"	"p.?"	""
"0001002448"	"00005398"	"30"	"5331"	"0"	"5331"	"0"	"c.5331T>G"	"r.(?)"	"p.(=)"	""
"0001002449"	"00005398"	"50"	"5201"	"0"	"5201"	"0"	"c.5201A>G"	"r.(?)"	"p.(Asn1734Ser)"	""
"0001002450"	"00005398"	"30"	"4434"	"44"	"4434"	"44"	"c.4434+44G>C"	"r.(=)"	"p.(=)"	""
"0001002451"	"00005398"	"30"	"4021"	"0"	"4021"	"0"	"c.4021C>T"	"r.(?)"	"p.(Pro1341Ser)"	""
"0001002452"	"00005398"	"50"	"2255"	"0"	"2255"	"0"	"c.2255A>T"	"r.(?)"	"p.(Lys752Ile)"	""
"0001002453"	"00005398"	"50"	"1951"	"0"	"1951"	"0"	"c.1951A>G"	"r.(?)"	"p.(Met651Val)"	""
"0001002454"	"00005398"	"50"	"1787"	"0"	"1787"	"0"	"c.1787A>G"	"r.(?)"	"p.(Lys596Arg)"	""
"0001002455"	"00005398"	"30"	"1105"	"0"	"1105"	"0"	"c.1105C>T"	"r.(?)"	"p.(Arg369Cys)"	""
"0001002456"	"00005398"	"30"	"560"	"0"	"560"	"0"	"c.560A>G"	"r.(?)"	"p.(His187Arg)"	""
"0001002457"	"00005398"	"30"	"487"	"0"	"487"	"0"	"c.487G>A"	"r.(?)"	"p.(Ala163Thr)"	""
"0001002458"	"00005398"	"50"	"482"	"0"	"482"	"0"	"c.482T>C"	"r.(?)"	"p.(Ile161Thr)"	""
"0001002459"	"00005398"	"50"	"278"	"0"	"278"	"0"	"c.278A>G"	"r.(?)"	"p.(Tyr93Cys)"	""
"0001002460"	"00005398"	"50"	"112"	"0"	"112"	"0"	"c.112C>T"	"r.(?)"	"p.(Arg38Trp)"	""
"0001002461"	"00005398"	"90"	"76"	"0"	"76"	"0"	"c.76C>T"	"r.(?)"	"p.(Arg26*)"	""
"0001041224"	"00005398"	"30"	"9148"	"0"	"9148"	"0"	"c.*2017G>A"	"r.(=)"	"p.(=)"	""
"0001041225"	"00005398"	"30"	"5107"	"0"	"5107"	"0"	"c.5107T>G"	"r.(?)"	"p.(Ser1703Ala)"	""
"0001041226"	"00005398"	"30"	"4434"	"70"	"4434"	"73"	"c.4434+70_4434+73del"	"r.(=)"	"p.(=)"	""
"0001041227"	"00005398"	"50"	"4399"	"0"	"4399"	"0"	"c.4399A>G"	"r.(?)"	"p.(Thr1467Ala)"	""
"0001041228"	"00005398"	"50"	"4336"	"0"	"4336"	"0"	"c.4336C>T"	"r.(?)"	"p.(Arg1446Cys)"	""
"0001041229"	"00005398"	"30"	"2481"	"0"	"2481"	"0"	"c.2481G>A"	"r.(?)"	"p.(=)"	""
"0001041230"	"00005398"	"30"	"637"	"69"	"637"	"69"	"c.637+69T>C"	"r.(=)"	"p.(=)"	""
"0001041231"	"00005398"	"30"	"532"	"0"	"532"	"0"	"c.532A>G"	"r.(?)"	"p.(Ile178Val)"	""
"0001041232"	"00005398"	"50"	"385"	"0"	"385"	"0"	"c.385T>C"	"r.(?)"	"p.(Phe129Leu)"	""
"0001055617"	"00005398"	"30"	"6917"	"6"	"6917"	"6"	"c.6917+6C>T"	"r.(=)"	"p.(=)"	""
"0001055618"	"00005398"	"50"	"6275"	"0"	"6275"	"0"	"c.6275A>G"	"r.(?)"	"p.(Tyr2092Cys)"	""
"0001062838"	"00005398"	"50"	"5608"	"0"	"5608"	"0"	"c.5608C>T"	"r.(?)"	"p.(Arg1870Cys)"	"39"
"0001062839"	"00005398"	"90"	"4800"	"1"	"4800"	"1"	"c.4800+1G>A"	"r.spl"	"p.?"	""
"0001066504"	"00005398"	"30"	"4733"	"0"	"4733"	"0"	"c.4733A>G"	"r.(?)"	"p.(Asn1578Ser)"	""
"0001066505"	"00005398"	"30"	"2891"	"445"	"2891"	"445"	"c.2891+445G>A"	"r.(=)"	"p.(=)"	""
"0001066506"	"00005398"	"50"	"2413"	"0"	"2413"	"0"	"c.2413G>A"	"r.(?)"	"p.(Val805Ile)"	""
"0001066507"	"00005398"	"50"	"1643"	"0"	"1643"	"0"	"c.1643G>A"	"r.(?)"	"p.(Arg548Lys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 47
"{{screeningid}}"	"{{variantid}}"
"0000019832"	"0000040286"
"0000306644"	"0000670326"
"0000306645"	"0000670327"
"0000306646"	"0000670328"
"0000306647"	"0000670329"
"0000306648"	"0000670330"
"0000306649"	"0000670331"
"0000306650"	"0000670332"
"0000306651"	"0000670333"
"0000306652"	"0000670334"
"0000306653"	"0000670335"
"0000306654"	"0000670336"
"0000306655"	"0000670337"
"0000306656"	"0000670338"
"0000306657"	"0000670339"
"0000306658"	"0000670340"
"0000306659"	"0000670341"
"0000306660"	"0000670342"
"0000306661"	"0000670343"
"0000306662"	"0000670344"
"0000306663"	"0000670345"
"0000306664"	"0000670346"
"0000306665"	"0000670347"
"0000306666"	"0000670348"
"0000306667"	"0000670349"
"0000306668"	"0000670350"
"0000306669"	"0000670351"
"0000306670"	"0000670352"
"0000306671"	"0000670353"
"0000306671"	"0000670374"
"0000306672"	"0000670354"
"0000306673"	"0000670355"
"0000306674"	"0000670356"
"0000306675"	"0000670357"
"0000306676"	"0000670358"
"0000306677"	"0000670359"
"0000306678"	"0000670360"
"0000306679"	"0000670361"
"0000306680"	"0000670362"
"0000306681"	"0000670363"
"0000306682"	"0000670364"
"0000336276"	"0000735551"
"0000373798"	"0000784065"
"0000376832"	"0000788884"
"0000396657"	"0000828308"
"0000473887"	"0001062838"
"0000473888"	"0001062839"