### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NR2F1)
# 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}}"
"NR2F1" "nuclear receptor subfamily 2, group F, member 1" "5" "q14" "unknown" "NG_034119.1" "UD_136089624263" "{DOI:Billiet 2021:10.1002/humu.24305}" "https://www.LOVD.nl/NR2F1" "" "1" "7975" "7025" "132890" "1" "1" "1" "1" "Pathogenic variants of the nuclear receptor subfamily 2 group F member 1 gene (NR2F1; MIM# 132890) are responsible for Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS; MIM# 615722), an autosomal dominant disorder characterized by optic atrophy associated with developmental delay and intellectual disability.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/NR2F1_codingDNA.html" "1" "" "\r\n![\"Mitodyn.org](\"https://pro2-bar-s3-cdn-cf6.myportfolio.com/ca26a62d-d680-4f75-878a-ede830adb2ba/a190b1b0-5d6a-4379-b122-12e941febdf2.png?h=ce56252a54da27c038dba06b8f1f8370\")
\r\n\r\nA database from the MITOchondrial DYNamics variation portal \"Mitodyn.org\".\r\n " "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00091" "2022-06-29 12:16:47" "00091" "2023-05-11 10:31:37"
## 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}}"
"00014783" "NR2F1" "nuclear receptor subfamily 2, group F, member 1" "001" "NM_005654.4" "" "NP_005645.1" "" "" "" "-1687" "1512" "1272" "92919043" "92929788" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40"
"04062" "BBSOAS" "Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS)" "AD" "615722" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-10 14:41:27"
"04282" "CVI" "cerebral visual impairment (CVI)" "" "" "" "" "" "00006" "2015-06-15 15:37:52" "00006" "2015-06-15 15:38:26"
"04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50"
"05684" "neuropathy, optic" "neuropathy, optic" "" "" "" "" "" "00006" "2020-01-10 11:57:41" "00091" "2021-02-19 09:59:43"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"NR2F1" "04062"
"NR2F1" "05684"
## Individuals ## Do not remove or alter this header ##
## Count = 89
"{{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}}"
"00039400" "" "" "" "1" "" "01158" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "M" "no" "Netherlands" ">12y" "0" "" "" "" "Individual 1 / 26350515-Pat13"
"00039410" "" "" "" "1" "" "01158" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "F" "no" "Netherlands" ">02y" "0" "" "" "" "Individual 2"
"00043807" "" "" "" "1" "" "00006" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "F" "no" "" ">18y" "0" "" "" "" "Individual 3"
"00043808" "" "" "" "1" "" "00091" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "F" "no" "United States" ">35y" "0" "" "" "" "Individual 6"
"00043809" "" "" "" "1" "" "00006" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "Father, unaffected heterozygous carrier sister and son" "M" "no" "" ">68y" "0" "" "" "" ""
"00043810" "" "" "" "1" "" "00091" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "F" "" "" ">24y" "0" "" "" "" "Individual 4"
"00043811" "" "" "" "1" "" "00091" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "F" "" "" ">04y" "0" "" "" "" "Individual 5"
"00103883" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5763_1"
"00263904" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00296855" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00310033" "" "" "" "2" "" "03763" "{PMID:Mio 2020:32412696}" "" "M" "?" "Italy" "" "0" "" "" "white" "Proband 1"
"00310047" "" "" "00310033" "1" "" "03763" "{PMID:Mio 2020:32412696}" "" "M" "?" "Italy" "" "" "" "" "" "Proband 2"
"00310052" "" "" "" "1" "" "03763" "{PMID:Starosta 2020:32407885}" "" "F" "?" "United States" "" "" "" "" "" ""
"00310097" "" "" "" "1" "" "03763" "{PMID:Jezela-Stanek (2020):32337850}" "" "M" "?" "" "" "" "" "" "" "Patient 6"
"00310201" "" "" "" "1" "" "03763" "{PMID:Bojanek(2019):31729143}" "" "M" "" "United States" "" "" "" "" "" ""
"00310203" "" "" "" "1" "" "03763" "{PMID:Park 2019:31393201}" "" "M" "?" "Korea" "" "" "" "" "" ""
"00310204" "" "" "" "1" "" "03763" "{PMID:Martin-Hernandez 2018:29410510}" "" "F" "no" "Spain" "" "" "" "" "" ""
"00310373" "" "" "" "1" "" "03763" "{PMID:Kaiwar 2017:28963436}" "" "M" "?" "" "" "0" "" "" "" "Case 1"
"00310602" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "" "" "" "" "" "" "" "Individual 1"
"00310603" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 3"
"00311023" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "F" "?" "" "" "" "" "" "" "Individual 4"
"00311026" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 5"
"00311042" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "F" "?" "" "" "" "" "" "" "Individual 8"
"00311043" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 9"
"00311044" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 10"
"00311045" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 11"
"00311046" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "F" "?" "" "" "" "" "" "" "Individual 12"
"00311047" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "F" "?" "" "" "" "" "" "" "Individual 14"
"00311061" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 15"
"00311063" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "F" "?" "" "" "" "" "" "" "Individual 16"
"00311064" "" "" "" "2" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 17"
"00311065" "" "" "00311064" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "no" "" "" "" "" "" "" "Individual 18"
"00311066" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 19"
"00311067" "" "" "" "1" "" "03763" "{PMID:Hino-Fukuyo 2017:28654857}" "" "F" "no" "Japan" "" "" "" "" "" ""
"00311077" "" "" "" "1" "" "03763" "{PMID:Bertacchi 2020:32484994}" "" "F" "?" "France" "" "" "" "" "" "P1"
"00311078" "" "" "" "1" "" "03763" "{PMID:Bertacchi 2020:32484994}" "" "F" "?" "France" "" "" "" "" "" "P3"
"00311079" "" "" "" "1" "" "03763" "{PMID:Bertacchi 2020:32484994}" "" "M" "?" "France" "" "" "" "" "" "P2"
"00311080" "" "" "" "1" "" "03763" "{PMID:Bertacchi 2020:32484994}" "" "F" "?" "France" "" "" "" "" "" "P4"
"00311089" "" "" "" "1" "" "03763" "{PMID:Bertacchi 2020:32484994}" "" "F" "" "France" "" "" "" "" "" "P5"
"00311090" "" "" "" "1" "" "03763" "{PMID:Bertacchi 2020:32484994}" "" "M" "?" "France" "" "" "" "" "" "P6"
"00311091" "" "" "" "1" "" "03763" "{PMID:Al-Kateb 2013:23300014}" "" "M" "?" "" "" "" "" "" "" ""
"00311092" "" "" "" "1" "" "03763" "{PMID:Brown 2009:19353646}" "" "F" "" "" "" "0" "" "" "" "DGAP169"
"00311093" "" "" "" "1" "" "03763" "{PMID:Walsh 2020:32712214}" "" "M" "?" "" "" "" "" "" "" ""
"00311172" "" "" "" "1" "" "03763" "{PMID:Kaiwar 2017:28963436}" "" "F" "?" "" "" "0" "" "" "" "Case 2"
"00311174" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "F" "?" "" "" "" "" "" "" "Individual 2"
"00311175" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 6"
"00311176" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "M" "?" "" "" "" "" "" "" "Individual 7"
"00311177" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "F" "?" "" "" "" "" "" "" "Individual 13"
"00311178" "" "" "" "1" "" "03763" "{PMID:Chen 2016:26986877}" "" "F" "?" "" "" "" "" "" "" "Individual 20"
"00311179" "" "" "" "1" "" "03763" "{PMID:Dimassi 2016:26138355}" "" "M" "?" "" "" "" "" "" "" "Patient 12A926"
"00311360" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID 2"
"00311361" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID3"
"00311362" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID4"
"00311363" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID6"
"00311364" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID7"
"00311365" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID8"
"00311366" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID 9"
"00311367" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID 15"
"00311368" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID 20"
"00311369" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID 25"
"00311370" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID 26"
"00311371" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID 33"
"00311372" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID 34"
"00311373" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID 42"
"00311375" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID 46"
"00311376" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID 49"
"00311377" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "M" "?" "" "" "" "" "" "" "ID 50"
"00311378" "" "" "" "1" "" "03763" "{PMID:Rech 2020:32275123}" "" "F" "?" "" "" "" "" "" "" "ID 54"
"00312023" "" "" "" "2" "" "03763" "" "" "F" "" "France" "" "" "" "" "" ""
"00312024" "" "" "00312023" "1" "" "03763" "" "" "F" "?" "France" "" "" "" "" "" ""
"00312025" "" "" "" "2" "" "03763" "" "" "F" "no" "France" "" "" "" "" "" ""
"00312026" "" "" "00312025" "1" "" "03763" "" "" "F" "no" "France" "" "" "" "" "" ""
"00312027" "" "" "" "1" "" "03763" "" "" "M" "no" "France" "" "" "" "" "" ""
"00312028" "" "" "" "1" "" "03763" "" "" "M" "no" "France" "" "" "" "" "" ""
"00312029" "" "" "" "1" "" "03763" "" "" "F" "" "France" "" "" "" "" "" ""
"00312526" "" "" "" "1" "" "03763" "" "" "M" "?" "France" "" "" "" "" "" ""
"00313944" "" "" "" "1" "" "03763" "{PMID:Zou 2020:32011206}" "" "F" "no" "China" "" "" "" "" "" ""
"00313951" "" "" "" "1" "" "03763" "{PMID:Hobbs 2020:31913971}" "" "M" "" "" "" "" "" "" "" ""
"00314752" "" "" "" "1" "" "03763" "{PMID:Balciuniene 2019:30977854}" "" "?" "?" "" "" "" "" "" "" ""
"00320445" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "172742"
"00358820" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00358821" "" "" "" "1" "" "00091" "" "" "F" "" "(France)" "" "0" "" "" "" ""
"00359597" "" "" "" "1" "" "03763" "" "" "M" "?" "France" "" "" "" "" "" ""
"00376160" "" "" "" "1" "" "00091" "" "" "M" "" "(France)" "" "0" "" "" "" ""
"00379757" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "" "" "" "" "IR_GH_0103"
"00385119" "" "" "" "1" "" "00091" "{PMID:Vissers 2017:28333917}" "" "F" "no" "" "" "0" "" "" "" "Patient 85"
"00412269" "" "" "" "1" "" "03508" "" "" "" "" "" "" "" "" "" "" ""
"00412270" "" "" "" "1" "" "03508" "" "" "" "" "" "" "" "" "" "" ""
"00412271" "" "" "" "1" "" "03508" "" "" "" "" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 92
"{{individualid}}" "{{diseaseid}}"
"00039400" "00139"
"00039400" "04062"
"00039400" "04282"
"00039410" "00139"
"00039410" "04062"
"00039410" "04282"
"00043807" "04062"
"00043808" "00198"
"00043809" "04293"
"00043810" "04282"
"00043811" "04282"
"00103883" "00198"
"00296855" "00198"
"00310033" "05684"
"00310047" "05684"
"00310052" "05684"
"00310097" "05684"
"00310201" "05684"
"00310203" "05684"
"00310204" "05684"
"00310373" "05684"
"00310602" "05684"
"00310603" "05684"
"00311023" "05684"
"00311026" "05684"
"00311042" "05684"
"00311043" "05684"
"00311044" "05684"
"00311045" "05684"
"00311046" "05684"
"00311047" "05684"
"00311061" "05684"
"00311063" "05684"
"00311064" "05684"
"00311065" "05684"
"00311066" "05684"
"00311067" "05684"
"00311077" "05684"
"00311078" "05684"
"00311079" "04062"
"00311080" "05684"
"00311089" "05684"
"00311090" "05684"
"00311091" "05684"
"00311092" "04062"
"00311093" "05684"
"00311172" "04062"
"00311174" "04062"
"00311175" "04062"
"00311176" "04062"
"00311177" "04062"
"00311178" "04062"
"00311179" "04062"
"00311360" "05684"
"00311361" "05684"
"00311362" "05684"
"00311363" "05684"
"00311364" "05684"
"00311365" "05684"
"00311366" "05684"
"00311367" "05684"
"00311368" "05684"
"00311369" "05684"
"00311370" "05684"
"00311371" "04062"
"00311372" "05684"
"00311373" "05684"
"00311375" "05684"
"00311376" "05684"
"00311377" "05684"
"00311378" "05684"
"00312023" "05684"
"00312024" "04062"
"00312025" "05684"
"00312026" "04062"
"00312027" "05684"
"00312028" "05684"
"00312029" "05684"
"00312526" "05684"
"00313944" "05684"
"00313951" "05684"
"00314752" "04062"
"00320445" "04062"
"00358820" "05684"
"00358821" "05684"
"00359597" "04062"
"00376160" "05684"
"00379757" "04293"
"00385119" "00198"
"00412269" "00198"
"00412270" "00198"
"00412271" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04062, 04282, 04293, 05684
## Count = 85
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000034016" "04062" "00039410" "00091" "Isolated (sporadic)" "02y" "Epicanthus (HP:0000286); Anteverted nares (HP:0000463); Wide mouth (HP:0000154); Thick vermilion border (HP:0012471); Protruding ear (HP:0000411); Uplifted earlobe (HP:0009909); Tapered finger (HP:0001182); Prominent fingertip pads (HP:0001212); Slow-growing hair (HP:0002217); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of flash visual evoked potentials (HP:0030461); Neurodevelopmental delay (HP:0012758); Cerebral visual impairment (HP:0100704)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000034019" "04062" "00039400" "00091" "Isolated (sporadic)" "12y" "Protruding ear (HP:0000411); Abnormality of the nares (HP:0005288); Thick nasal alae (HP:0009928); Abnormality of the thorax (HP:0000765); Long fingers (HP:0100807); Long toe (HP:0010511); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103); Abnormal timing of flash visual evoked potentials (HP:0030461); Abnormal timing of pattern onset/offset visual evoked potentials (HP:0030458); Eccentric visual fixation (HP:0025549); Intellectual disability, moderate (HP:0002342); Cerebral visual impairment (HP:0100704); Neurodevelopmental delay (HP:0012758); Visual field defect (HP:0001123); Strabismus (HP:0000486)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000034036" "04062" "00043807" "00091" "Isolated (sporadic)" "18y" "Upslanted palpebral fissure (HP:0000582); Hypoplastic nasal bridge (HP:0005281); Retrognathia (HP:0000278); High palate (HP:0000218); Long fingers (HP:0100807); Long toe (HP:0010511); Muscular hypotonia (HP:0001252); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Abnormality of eye movement (HP:0000496); Nystagmus (HP:0000639); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal timing of pattern reversal visual evoked potentials (HP:0030460); Intellectual disability, mild (HP:0001256); Cerebral visual impairment (HP:0100704)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000034037" "00198" "00043808" "00091" "Isolated (sporadic)" "35y" "Underfolded helix (HP:0008577); Darwin tubercle of helix (HP:0011261); Pointed chin (HP:0000307); Synophrys (HP:0000664); Dysdiadochokinesis (HP:0002075); Spasticity (HP:0001257); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Keratoconus (HP:0000563); Optic atrophy (HP:0000648); Retinal atrophy (HP:0001105); Absent foveal reflex (HP:0030825); Keratoconjunctivitis sicca (HP:0001097); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Obsessive-compulsive behavior (HP:0000722)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000034038" "04293" "00043809" "00006" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000034039" "04282" "00043810" "00091" "Isolated (sporadic)" "24y" "Tapered finger (HP:0001182); Abnormal finger flexion creases (HP:0006143); 2-3 toe syndactyly (HP:0004691); Feeding difficulties in infancy (HP:0008872); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Nystagmus (HP:0000639); Cataract (HP:0000518); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Intellectual disability, mild (HP:0001256)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000034040" "04282" "00043811" "00091" "Unknown" "04y" "Prominent nasal bridge (HP:0000426); Prominent antihelix (HP:0000395); Clinodactyly of the 5th finger (HP:0004209); Feeding difficulties in infancy (HP:0008872); Reduced visual acuity (HP:0007663); Strabismus (HP:0000486); Abnormality of eye movement (HP:0000496); Nystagmus (HP:0000639); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Neurodevelopmental delay (HP:0012758);Cerebral visual impairment (HP:0100704)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000081809" "00198" "00103883" "00006" "Isolated (sporadic)" "" "Cortical dysplasia (HP:0002539); Autistic behavior (HP:0000729); Neurodevelopmental delay (HP:0012758); Seizure (HP:0001250); Optic atrophy (HP:0000648); Arnold-Chiari type I malformation (HP:0007099)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000201811" "00198" "00263904" "01164" "Unknown" "" "Generalized abnormality of skin (HP:0011354); Intellectual disability, mild (HP:0001256); Ptosis (HP:0000508); Restlessness (HP:0000711); Abnormality of skin pigmentation (HP:0001000); Neurodevelopmental abnormality (HP:0012759); Behavioral abnormality (HP:0000708); Impaired pain sensation (HP:0007328); Delayed speech and language development (HP:0000750); Abnormality of higher mental function (HP:0011446); Global developmental delay (HP:0001263); Febrile seizures (HP:0002373); Sensory impairment (HP:0003474)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000224252" "00198" "00296855" "01164" "Unknown" "" "Intellectual disability (HP:0001249); Paresthesia (HP:0003401); Abnormal nerve conduction velocity (HP:0040129); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000235348" "05684" "00310033" "03763" "Familial, autosomal dominant" "14y" "Neurodevelopmental delay (HP:0012758); Repetitive compulsive behavior (HP:0008762); Myoclonic seizure (HP:0032794) ; Rigidity (HP:0002063); Postural instability (HP:0002172); Optic atrophy (HP:0000648); Nystagmus (HP:0000639); Visual impairment (HP:0000505); Synophrys (HP:0000664); Abnormal palate morphology (HP:0000174); Finger clinodactyly (HP:0040019); Epicanthus (HP:0000286); Abnormal subarachnoid space morphology (HP:0012703); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410)" "00y10m?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000235359" "05684" "00310047" "03763" "Familial, autosomal dominant" "14y" "Neurodevelopmental delay (HP:0012758); Repetitive compulsive behavior (HP:0008762); Myoclonic seizure (HP:0032794) ; Rigidity (HP:0002063); Postural instability (HP:0002172); Optic atrophy (HP:0000648); Nystagmus (HP:0000639); Visual impairment (HP:0000505); Synophrys (HP:0000664); Abnormal palate morphology (HP:0000174); Finger clinodactyly (HP:0040019); Dilation of lateral ventricles (HP:0006956); Intraventricular arachnoid cyst (HP:0012488); Delayed fine motor development (HP:0010862); Delayed speech and language development (HP:0000750); Caesarian section (HP:0011410)" "00y10m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000235367" "05684" "00310052" "03763" "Isolated (sporadic)" "31y" "Neurodevelopmental delay (HP:0012758); Muscular hypotonia (HP:0001252); Ataxia (HP:0001251); Dehydration (HP:0001944); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Hyperinsulinemia (HP:0000842); Protein-losing enteropathy (HP:0002243); Blindness (HP:0000618); Abnormal aggressive, impulsive or violent behavior (HP:0006919); Hallucinations (HP:0000738); Depressivity (HP:0000716); Delayed puberty (HP:0000823); Carious teeth (HP:0000670); Deep venous thrombosis (HP:0002625); Menorrhagia (HP:0000132); Cholelithiasis (HP:0001081); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Corpus callosum atrophy (HP:0007371); Pituitary gland cyst (HP:0410278); Deeply set eye (HP:0000490); Malar flattening (HP:0000272); Inverted nipples (HP:0003186); Finger clinodactyly (HP:0040019); Pes planus (HP:0001763); Brisk reflexes (HP:0001348); Failure to thrive (HP:0001508); Caesarian section (HP:0011410); Poor suck (HP:0002033); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750);" "<00y00m28d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Congenital Disorder Of Glycosylation, Type I/iix OMIM:212067" "" "" ""
"0000235409" "05684" "00310097" "03763" "Isolated (sporadic)" "10y" "Intellectual disability, severe (HP:0010864); Cerebral palsy (HP:0100021); Seizure (HP:0001250); Gait imbalance (HP:0002141); Recurrent infections (HP:0002719); Narrow palm (HP:0004283); Narrow foot (HP:0001786); Horizontal nystagmus (HP:0000666); Amblyopia (HP:0000646); Delayed myelination (HP:0012448); Optic nerve dysplasia (HP:0001093); Absent speech (HP:0001344); Short attention span (HP:0000736); Broad-based gait (HP:0002136); Abnormality of pain sensation (HP:0010832); Visual impairment (HP:0000505); Limb joint contracture (HP:0003121); High forehead (HP:0000348); Protruding ear (HP:0000411); Widely spaced teeth (HP:0000687); Abnormality of the distal phalanx of the thumb (HP:0009617); Long fingers (HP:0100807); Sandal gap (HP:0001852); Pes valgus (HP:0008081); Pes planus (HP:0001763); Optic atrophy (HP:0000648)" "00y04m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "bbill" ""
"0000235504" "05684" "00310201" "03763" "Isolated (sporadic)" "30y" "Hyperbilirubinemia (HP:0002904); Recurrent hand flapping (HP:0100023); Toe walking (HP:0040083); Delayed fine motor development (HP:0010862); Muscular hypotonia (HP:0001252); Autistic behavior (HP:0000729); Attention deficit hyperactivity disorder (HP:0007018); Specific learning disability (HP:0001328); EEG with central sharp waves (HP:0011293); Protruding ear (HP:0000411); Micrognathia (HP:0000347); Cupped ear (HP:0000378); Midface retrusion (HP:0011800); Depressed nasal tip (HP:0000437); Thick vermilion border (HP:0012471); Joint hypermobility (HP:0001382); Optic nerve hypoplasia (HP:0000609); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Speech articulation difficulties (HP:0009088); Impaired executive functioning (HP:0033051); Impaired use of nonverbal behaviors (HP:0000758); Optic atrophy (HP:0000648)" "02y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000235506" "05684" "00310203" "03763" "Isolated (sporadic)" "07y" "Neurodevelopmental delay (HP:0012758); Delayed fine motor development (HP:0010862); Intellectual disability, borderline (HP:0006889); Attention deficit hyperactivity disorder (HP:0007018); Protruding ear (HP:0000411); Retrognathia (HP:0000278); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Abnormal retinal morphology on macular OCT (HP:0030612); Reduced visual acuity (HP:0007663); Corpus callosum atrophy (HP:0007371); Caesarian section (HP:0011410)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000235509" "05684" "00310204" "03763" "Isolated (sporadic)" "17y" "Vomiting (HP:0002013); Muscular hypotonia (HP:0001252); Fluctuations in consciousness (HP:0007159); Esodeviation (HP:0020045); Nystagmus (HP:0000639); Optic atrophy (HP:0000648); Visual field defect (HP:0001123); Visual impairment (HP:0000505); Elevated serum creatine kinase (HP:0003236); EMG: myopathic abnormalities (HP:0003458); Hypoplasia of the corpus callosum (HP:0002079); Decreased activity of mitochondrial complex IV (HP:0008347); Intellectual disability, moderate (HP:0002342); Abnormality of visual evoked potentials (HP:0000649); Stroke-like episode (HP:0002401); Motor delay (HP:0001270); Global developmental delay (HP:0001263); Hemiparesis (HP:0001269)" "00y06m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000235675" "05684" "00310373" "03763" "Isolated (sporadic)" "14y" "Feeding difficulties (HP:0011968); Global developmental delay (HP:0001263); Infantile spasms (HP:0012469); Inguinal hernia (HP:0000023); Dolichocephaly (HP:0000268); Midface retrusion (HP:0011800); Deeply set eye (HP:0000490); Short palpebral fissure (HP:0012745); Protruding ear (HP:0000411); Abnormality of the helix (HP:0011039); Aplasia/Hypoplasia of the earlobes (HP:0009906); Skin tags (HP:0010609); Microretrognathia (HP:0000308); Macrodontia (HP:0001572); Absent speech (HP:0001344); Impaired social interactions (HP:0000735); Behavioral abnormality (HP:0000708); Weakness of facial musculature (HP:0030319); Muscular hypotonia (HP:0001252); Decreased muscle mass (HP:0003199); Apraxia (HP:0002186); Brisk reflexes (HP:0001348); Short stature (HP:0004322); Decreased body weight (HP:0004325); Delayed skeletal maturation (HP:0002750); Optic nerve hypoplasia( HP:0000609); EEG with generalized spikes (HP:0012000); Generalized-onset seizure (HP:0002197); Decreased CSF 5-hydroxyindolacetic acid (HP:0025455); Decreased CSF homovanillic acid (HP:0003785); Intellectual disability, severe (HP:0010864); Difficulty walking (HP:0002355); Gastrostomy tube feeding in infancy (HP:0011471); Optic atrophy (HP:0000648)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000235898" "05684" "00310602" "03763" "Isolated (sporadic)" "06y" "Muscular hypotonia (HP:0001252); Neurodevelopmental delay (HP:0012758); Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Absent speech (HP:0001344); Oromotor apraxia (HP:0007301); Seizure (HP:0001250); Generalized tonic seizure (HP:0010818); Generalized non-motor (absence) seizure (HP:0002121); Autistic behavior (HP:0000729); Corpus callosum atrophy (HP:0007371); Cerebral white matter hypoplasia (HP:0012430); Hearing impairment (HP:0000365); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Delayed ability to stand (HP:0025335); Dysphagia (HP:0002015)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000235899" "05684" "00310603" "03763" "Isolated (sporadic)" "" "Ventouse delivery (HP:0011412); Cyanosis (HP:0000961); Abnormality of the umbilical cord (HP:0010881); Jaundice (HP:0000952); Optic atrophy (HP:0000648); Impaired smooth pursuit (HP:0007772); Focal-onset seizure (HP:0007359); Encephalopathy (HP:0001298); Reflex seizure (HP:0020207); Delayed myelination (HP:0012448); Cerebellar malformation (HP:0002438); Cerebral white matter atrophy (HP:0012762); Neurodevelopmental delay (HP:0012758); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Cerebral visual impairment HP:0100704; Repetitive compulsive behavior (HP:0008762)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236289" "05684" "00311023" "03763" "Isolated (sporadic)" "04y" "Feeding difficulties (HP:0011968); Neurodevelopmental delay (HP:0012758); Muscular hypotonia (HP:0001252); Corpus callosum atrophy (HP:0007371); Atonic seizure (HP:0010819); EEG abnormality (HP:0002353); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Esotropia (HP:0000565); Exotropia (HP:0000577); Optic atrophy (HP:0000648); Attenuation of retinal blood vessels (HP:0007843)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236291" "05684" "00311026" "03763" "Isolated (sporadic)" "11y" "Muscular hypotonia (HP:0001252); Poor suck (HP:0002033); Neurodevelopmental delay (HP:0012758); Absent speech (HP:0001344); Inability to walk (HP:0002540); Optic atrophy (HP:0000648); Septo-optic dysplasia (HP:0100842); Corpus callosum atrophy (HP:0007371); Behavioral abnormality (HP:0000708)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236306" "05684" "00311042" "03763" "Isolated (sporadic)" "06y" "Caesarian section (HP:0011410); Preauricular skin tag (HP:0000384); Low-set ears (HP:0000369); Synophrys (HP:0000664); Muscular hypotonia (HP:0001252); Infantile spasms (HP:0012469); Absent speech (HP:0001344); Inability to walk (HP:0002540); Delayed ability to sit (HP:0025336); Failure to thrive (HP:0001508); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Corpus callosum atrophy (HP:0007371); Optic atrophy (HP:0000648)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236307" "05684" "00311043" "03763" "Isolated (sporadic)" "30y" "Muscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968); Neurodevelopmental delay (HP:0012758); Delayed ability to walk (HP:0031936); Expressive language delay (HP:0002474); Attention deficit hyperactivity disorder (HP:0007018); Autistic behavior (HP:0000729); Recurrent otitis media (HP:0000403); Hearing impairment (HP:0000365); Seizure (HP:0001250); Synophrys (HP:0000664); High palate (HP:0000218); Retrognathia (HP:0000278); Protruding ear (HP:0000411); Broad distal phalanx of finger (HP:0009836); Broad hallux (HP:0010055); Cerebral visual impairment (HP:0100704); Reduced visual acuity (HP:0007663); Nystagmus (HP:0000639); Abnormality of eye movement (HP:0000496); Visual field defect (HP:0001123); Optic atrophy (HP:0000648); Abnormal macular morphology (HP:0001103)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236308" "05684" "00311044" "03763" "Isolated (sporadic)" "21y" "Caesarian section (HP:0011410); Preeclampsia (HP:0100602); Delayed speech and language development (HP:0000750); Blindness (HP:0000618); Optic nerve hypoplasia (HP:0000609); Strabismus (HP:0000486); Impaired mastication (HP:0005216); Muscular hypotonia (HP:0001252); Autistic behavior (HP:0000729); Attention deficit hyperactivity disorder (HP:0007018); Optic atrophy (HP:0000648)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236309" "05684" "00311045" "03763" "Isolated (sporadic)" "07y" "Caesarian section (HP:0011410); Muscular hypotonia (HP:0001252); Nystagmus (HP:0000639); Reduced visual acuity (HP:0007663); Optic nerve hypoplasia (HP:0000609); Neurodevelopmental delay (HP:0012758); Delayed ability to walk (HP:0031936); Delayed ability to sit (HP:0025336); Delayed speech and language development (HP:0000750); Autistic behavior (HP:0000729); Emotional lability (HP:0000712); Poor eye contact (HP:0000817); Head-banging (HP:0012168); Impaired mastication (HP:0005216); Mild hearing impairment (HP:0012712); Spasticity (HP:0001257); Joint hypermobility (HP:0001382); Optic atrophy (HP:0000648)" "00y03m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236310" "05684" "00311046" "03763" "Isolated (sporadic)" "04y" "Intrauterine growth retardation (HP:0001511); Poor suck (HP:0002033); Feeding difficulties (HP:0011968); Failure to thrive (HP:0001508); Delayed ability to walk (HP:0031936); Expressive language delay (HP:0002474); Optic nerve hypoplasia (HP:0000609); Corpus callosum atrophy (HP:0007371); Optic atrophy (HP:0000648)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236312" "05684" "00311047" "03763" "Isolated (sporadic)" "12y" "Atrial septal defect (HP:0001631); Posteriorly rotated ears (HP:0000358); Epicanthus (HP:0000286); Wide nasal bridge (HP:0000431); Narrow palpebral fissure (HP:0045025); Retrognathia (HP:0000278); High palate (HP:0000218); Muscular hypotonia (HP:0001252); Poor suck (HP:0002033); Dysphagia (HP:0002015); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Expressive language delay (HP:0002474); Blindness (HP:0000618); Coloboma (HP:0000589); Esotropia (HP:0000565); Hypermetropia (HP:0000540); Nystagmus (HP:0000639); Optic nerve hypoplasia (HP:0000609); Seizure (HP:0001250); Obsessive-compulsive behavior (HP:0000722); Stereotypical hand wringing (HP:0012171); Skin-picking (HP:0012166); Attention deficit hyperactivity disorder (HP:0007018); Morphological central nervous system abnormality (HP:0002011); Corpus callosum atrophy (HP:0007371); Corticospinal tract atrophy (HP:0007117); Hearing impairment (HP:0000365); Optic atrophy (HP:0000648)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236326" "05684" "00311061" "03763" "Isolated (sporadic)" "43y" "Muscular hypotonia (HP:0001252); Neonatal breathing dysregulation (HP:0002790); Cyanosis (HP:0000961); Poor suck (HP:0002033); Dysphagia (HP:0002015); Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Narrow palpebral fissure (HP:0045025); Large forehead (HP:0002003); Frontal balding (HP:0002292); Decreased muscle mass (HP:0003199); Limb hypertonia (HP:0002509); Dysmetria (HP:0001310); Dysdiadochokinesis (HP:0002075); Impaired tandem gait (HP:0031629); Optic atrophy (HP:0000648); Clonic seizure (HP:0020221); Dysgyria (HP:0032398); Dysgenesis of the hippocampus (HP:0025101); Abnormality of lateral ventricle (HP:0030047)" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236328" "05684" "00311063" "03763" "Isolated (sporadic)" "08y" "Caesarian section (HP:0011410); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Joint laxity (HP:0001388); Strabismus (HP:0000486); Nystagmus (HP:0000639); Hypermetropia (HP:0000540); Optic atrophy (HP:0000648); Macular hyperpigmentation (HP:0011509); Conductive hearing impairment (HP:0000405); Chronic otitis media (HP:0000389); Attention deficit hyperactivity disorder (HP:0007018); Abnormality of visual evoked potentials (HP:0000649)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236330" "05684" "00311064" "03763" "Familial, autosomal dominant" "35y" "Ventouse delivery (HP:0011412); Neurodevelopmental delay (HP:0012758); Attention deficit hyperactivity disorder (HP:0007018); Strabismus (HP:0000486); Optic atrophy (HP:0000648); Hypermetropia (HP:0000540); Red-green dyschromatopsia (HP:0000642); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Downslanted palpebral fissures (HP:0000494); Joint hypermobility (HP:0001382); Clinodactyly of the 5th finger (HP:0004209); Broad foot (HP:0001769); Long hallux (HP:0001847); Short 4th toe (HP:0008093); Short 5th toe (HP:0011917); Hypoplasia of the fovea (HP:0007750); Nystagmus (HP:0000639)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236331" "05684" "00311065" "03763" "Familial, autosomal dominant" "02y" "Inspiratory stridor (HP:0005348); Apnea (HP:0002104); Choking episodes (HP:0030842); Feeding difficulties (HP:0011968); Motor delay (HP:0001270); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Hypokinesia (HP:0002375); Bradykinesia (HP:0002067); Dystonia (HP:0001332); Muscular hypotonia of the trunk (HP:0008936); Deeply set eye (HP:0000490); Upslanted palpebral fissure (HP:0000582); Wide mouth (HP:0000154); Abnormality of the helix (HP:0011039); Protruding ear (HP:0000411); Large earlobe (HP:0009748); Finger joint hypermobility (HP:0006094); Clinodactyly of the 5th finger (HP:0004209); Long hallux (HP:0001847); Prominent veins on trunk (HP:0007457); Agenesis of corpus callosum (HP:0001274); Abnormality of optic chiasm morphology (HP:0025163); Delayed CNS myelination (HP:0002188); Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Abnormality of ocular smooth pursuit (HP:0000617); Optic atrophy (HP:0000648); Abnormal cerebellum morphology (HP:0001317);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236332" "05684" "00311066" "03763" "Isolated (sporadic)" "37y" "Amblyopia (HP:0000646); Strabismus (HP:0000486); Behavioral abnormality (HP:0000708); Autistic behavior (HP:0000729); Optic atrophy (HP:0000648); Intellectual disability, borderline (HP:0006889)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236333" "05684" "00311067" "03763" "Isolated (sporadic)" "23y" "Infantile spasms (HP:0012469); Epileptic spasm (HP:0011097); Hypsarrhythmia (HP:0002521); Spastic tetraparesis (HP:0001285); Neurodevelopmental delay (HP:0012758); Abnormal flash visual evoked potentials (HP:0007928); Optic atrophy (HP:0000648); EEG with frontal focal spikes (HP:0012015); EEG with occipital focal spikes (HP:0012016); Seizure precipitated by febrile infection (HP:0032894); Delayed ability to sit (HP:0025336); Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Smooth philtrum (HP:0000319); Micrognathia (HP:0000347); Enlarged naris (HP:0009931); Intellectual disability (HP:0001249);" "00y04m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236340" "05684" "00311077" "03763" "Isolated (sporadic)" "01y04m" "Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Infantile spasms (HP:0012469); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Hyperactivity (HP:0000752); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Optic nerve hypoplasia (HP:0000609); Abnormality of optic chiasm morphology (HP:0025163); Abnormal cortical gyration (HP:0002536);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236341" "05684" "00311078" "03763" "Isolated (sporadic)" "05y10m" "Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Delayed speech and language development (HP:0000750); Seizure (HP:0001250); Precocious puberty (HP:0000826); Intellectual disability (HP:0001249); Stereotypy (HP:0000733); Attention deficit hyperactivity disorder (HP:0007018); Strabismus (HP:0000486); Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163); Cerebellar vermis atrophy (HP:0006855); Gray matter heterotopia (HP:0002282); Abnormal cortical gyration (HP:0002536)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236342" "04062" "00311079" "03763" "Isolated (sporadic)" "03y07m" "Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Inguinal hernia (HP:0000023); Intellectual disability (HP:0001249); Delayed fine motor development (HP:0010862); Apraxia (HP:0002186); Hypermetropia (HP:0000540); Strabismus (HP:0000486); Hypoplasia of the corpus callosum (HP:0002079); Ventriculomegaly (HP:0002119); Abnormality of the cerebral ventricles (HP:0002118); Abnormal cortical gyration (HP:0002536)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236343" "05684" "00311080" "03763" "Isolated (sporadic)" "03y05m" "Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Abnormality of optic chiasm morphology (HP:0025163); Hypoplasia of the corpus callosum (HP:0002079); Abnormal cortical gyration (HP:0002536); Delayed speech and language development (HP:0000750); Hyperactivity (HP:0000752); Abnormality of the cerebral cortex (HP:0002538); Optic atrophy (HP:0000648)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236345" "05684" "00311089" "03763" "Isolated (sporadic)" "06y07m" "Neurodevelopmental delay (HP:0012758); Behavioral abnormality (HP:0000708); Muscular hypotonia (HP:0001252); Stereotypy (HP:0000733); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Hypermetropia (HP:0000540); Nystagmus (HP:0000639); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163); Abnormal cortical gyration (HP:0002536)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236346" "05684" "00311090" "03763" "Isolated (sporadic)" "12y02m" "Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Pectus excavatum (HP:0000767); Pes planus (HP:0001763); Scoliosis (HP:0002650); Triangular face (HP:0000325); Thin upper lip vermilion (HP:0000219); Anteverted nares (HP:0000463); High palate (HP:0000218); Gastroesophageal reflux (HP:0002020); Apnea (HP:0002104); Intellectual disability (HP:0001249); Autistic behavior (HP:0000729); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Hypermetropia (HP:0000540); Reduced visual acuity (HP:0007663); Severe constriction of peripheral visual field (HP:0030526); Short corpus callosum (HP:0200012); Optic nerve hypoplasia (HP:0000609); Abnormality of optic chiasm morphology (HP:0025163); Hypoplastic olfactory lobes (HP:0006894); Abnormal cortical gyration (HP:0002536)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236347" "05684" "00311091" "03763" "Isolated (sporadic)" "08y03m" "Feeding difficulties in infancy (HP:0008872); Gastrostomy tube feeding in infancy (HP:0011471); Gastroesophageal reflux (HP:0002020); Muscular hypotonia (HP:0001252); Ureteropelvic junction obstruction (HP:0000074); Strabismus (HP:0000486); Amblyopia (HP:0000646); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Mild conductive hearing impairment (HP:0008598); Global developmental delay (HP:0001263); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Gait disturbance (HP:0001288); Impaired tandem gait (HP:0031629); Delayed fine motor development (HP:0010862); Attention deficit hyperactivity disorder (HP:0007018); Epicanthus (HP:0000286); Thin upper lip vermilion (HP:0000219); Smooth philtrum (HP:0000319); Micrognathia (HP:0000347); Flared nostrils (HP:0000454); Posteriorly rotated ears (HP:0000358); Pectus carinatum (HP:0000768); Abnormality of optic chiasm morphology (HP:0025163); Low hanging columella (HP:0009765)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236348" "04062" "00311092" "03763" "Isolated (sporadic)" "00y02m" "Caesarian section (HP:0011410); Poor suck (HP:0002033); Dysphagia (HP:0002015); Abnormality of the scalp hair (HP:0100037); Facial asymmetry (HP:0000324); Upslanted palpebral fissure (HP:0000582); Anteverted nares (HP:0000463); Broad nasal tip (HP:0000455); Micrognathia (HP:0000347); Abnormality of the pinna (HP:0000377); Muscular hypotonia of the trunk (HP:0008936); Reduced tendon reflexes (HP:0001315); Profound sensorineural hearing impairment (HP:0011476); Abnormality of the vestibulocochlear nerve (HP:0009591); Cochlear malformation (HP:0008554); Abnormality of the middle ear ossicles (HP:0004452); Abnormality of the vestibular window (HP:0040100); Abnormality of the seventh cranial nerve (HP:0010827); Growth delay (HP:0001510); Apneic episodes in infancy (HP:0005949); Strabismus (HP:0000486); Temporal hypotrichosis (HP:0004524); Delayed gross motor development (HP:0002194); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750);" "00y00m01d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236349" "05684" "00311093" "03763" "Isolated (sporadic)" "09y" "Polyhydramnios (HP:0001561); Caesarian section (HP:0011410); Neurodevelopmental delay (HP:0012758); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Generalized myoclonic-atonic seizure (HP:0011170); Nystagmus (HP:0000639); Hypermetropia (HP:0000540); Reduced visual acuity (HP:0007663); Conductive hearing impairment (HP:0000405); Phimosis (HP:0001741); Syringomyelia (HP:0003396); Optic nerve hypoplasia (HP:0000609); Abnormality of optic chiasm morphology (HP:0025163); Hypoplasia of the corpus callosum (HP:0002079); Autistic behavior (HP:0000729); Macrocephaly (HP:0000256); Broad forehead (HP:0000337); Low-set ears (HP:0000369); Optic atrophy (HP:0000648)" "00y08m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236426" "04062" "00311172" "03763" "Isolated (sporadic)" "05y" "Caesarian section (HP:0011410); Premature rupture of membranes (HP:0001788); Maternal hypertension (HP:0008071); Hyperemesis gravidarum (HP:0012188); Feeding difficulties in infancy (HP:0008872); Nasogastric tube feeding in infancy (HP:0011470); Heart murmur (HP:0030148); Bicuspid aortic valve (HP:0001647); Aortic aneurysm (HP:0004942); Muscular hypotonia (HP:0001252); Amblyopia (HP:0000646); Anisometropia (HP:0012803); Strabismus (HP:0000486); Neurodevelopmental delay (HP:0012758); Motor delay (HP:0001270); Delayed speech and language development (HP:0000750); Stereotypy (HP:0000733); Hypertelorism (HP:0000316); Synophrys (HP:0000664); Cupped ear (HP:0000378); Macrocephaly (HP:0000256); Broad proximal phalanges of the hand (HP:0009852)" "00y00m03d" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236427" "04062" "00311174" "03763" "Isolated (sporadic)" "04y" "Abnormal visual fixation (HP:0025404); Feeding difficulties in infancy (HP:0008872); Infantile spasms (HP:0012469); Hypoplasia of the corpus callosum (HP:0002079); Cerebral white matter hypoplasia (HP:0012430); Delayed ability to sit (HP:0025336); Muscular hypotonia (HP:0001252); Esotropia (HP:0000565); Amblyopia (HP:0000646); Global developmental delay (HP:0001263); Cerebral visual impairment (HP:0100704)" "00y04m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236428" "04062" "00311175" "03763" "Isolated (sporadic)" "10y" "Caesarian section (HP:0011410); Muscular hypotonia (HP:0001252); Esotropia (HP:0000565); Hypermetropia (HP:0000540); Amblyopia (HP:0000646); Delayed speech and language development (HP:0000750)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236429" "04062" "00311176" "03763" "Isolated (sporadic)" "21y" "Caesarian section (HP:0011410); Cupped ear (HP:0000378); Narrow mouth (HP:0000160); Sloping forehead (HP:0000340); Delayed ability to walk (HP:0031936); Delayed speech and language development (HP:0000750); Astigmatism (HP:0000483); Autistic behavior (HP:0000729); Aggressive behavior (HP:0000718); Generalized-onset seizure (HP:0002197); EEG with central focal spikes (HP:0012014)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236430" "04062" "00311177" "03763" "Isolated (sporadic)" "03y" "Delayed ability to walk (HP:0031936); Absent speech (HP:0001344); Poor eye contact (HP:0000817); Reduced visual acuity (HP:0007663); Accommodative esotropia (HP:0020046); Hypermetropia (HP:0000540); Cerebral visual impairment (HP:0100704); Myopathic facies (HP:0002058); Muscular hypotonia (HP:0001252); Persistent head lag (HP:0032988);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236431" "04062" "00311178" "03763" "Unknown" "06y" "Induced vaginal delivery (HP:0030369); Delayed ability to walk (HP:0031936); Muscular hypotonia (HP:0001252); Frequent falls (HP:0002359); Clumsiness (HP:0002312); Delayed speech and language development (HP:0000750); Delayed fine motor development (HP:0010862); Impaired mastication (HP:0005216); Dysphagia (HP:0002015); Intention tremor (HP:0002080); Reduced visual acuity (HP:0007663); Myopia (HP:0000545); Macrocephaly (HP:0000256)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236608" "05684" "00311360" "03763" "Isolated (sporadic)" "03y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Hypoplasia of the corpus callosum (HP:0002079); Infantile spasms (HP:0012469); Short stature (HP:0004322); Autistic behavior (HP:0000729); Hearing abnormality (HP:0000364)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236609" "05684" "00311361" "03763" "Isolated (sporadic)" "03y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Head-banging (HP:0012168); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Infantile spasms (HP:0012469); Focal-onset seizure (HP:0007359); Myoclonus (HP:0001336);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236610" "05684" "00311362" "03763" "Isolated (sporadic)" "04y" "Neurodevelopmental delay (HP:0012758); Intellectual disability, mild (HP:0001256); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Abnormality of brain morphology (HP:0012443); Infantile spasms (HP:0012469); Typical absence seizure (HP:0011147);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236611" "05684" "00311363" "03763" "Isolated (sporadic)" "08y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Brain atrophy (HP:0012444); Myoclonic seizure (HP:0032794); Hearing impairment (HP:0000365); Short stature (HP:0004322)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236612" "05684" "00311364" "03763" "Isolated (sporadic)" "04y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Abnormal cerebral morphology (HP:0002060); Typical absence seizure (HP:0011147); Myoclonic seizure (HP:0032794); Abnormality of temperature regulation (HP:0004370); Hearing impairment (HP:0000365); Head-banging (HP:0012168); Attention deficit hyperactivity disorder (HP:0007018)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236613" "05684" "00311365" "03763" "Isolated (sporadic)" "02y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Sleep disturbance (HP:0002360); Abnormality of temperature regulation (HP:0004370);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236614" "05684" "00311366" "03763" "Isolated (sporadic)" "05y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Abnormality of optic chiasm morphology (HP:0025163);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236615" "05684" "00311367" "03763" "Isolated (sporadic)" "02y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Inability to walk (HP:0002540); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Nystagmus (HP:0000639);\r\nMuscular hypotonia (HP:0001252); Feeding difficulties (HP:0011968); Infantile spasms (HP:0012469);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236616" "05684" "00311368" "03763" "Isolated (sporadic)" "04y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Sleep disturbance (HP:0002360); Impaired pain sensation (HP:0007328); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163); Delayed myelination (HP:0012448);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236617" "05684" "00311369" "03763" "Isolated (sporadic)" "16y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Typical absence seizure (HP:0011147); Tonic seizure (HP:0032792); Abnormality of temperature regulation (HP:0004370); Obsessive-compulsive behavior (HP:0000722)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236618" "05684" "00311370" "03763" "Unknown" "03y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Alacrima (HP:0000522); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Abnormality of temperature regulation (HP:0004370)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236619" "04062" "00311371" "03763" "Isolated (sporadic)" "07y" "Muscular hypotonia (HP:0001252); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236620" "05684" "00311372" "03763" "Isolated (sporadic)" "02y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Absent speech (HP:0001344); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373); Abnormality of temperature regulation (HP:0004370); Hearing impairment (HP:0000365)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236621" "05684" "00311373" "03763" "Unknown" "08y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Auditory hallucinations (HP:0008765); Visual impairment (HP:0000505); Alacrima (HP:0000522); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Seizure (HP:0001250); Abnormality of temperature regulation (HP:0004370); Hearing impairment (HP:0000365); Optic atrophy (HP:0000648)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236622" "05684" "00311375" "03763" "Isolated (sporadic)" "04y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Decreased lacrimation (HP:0000633); Cerebral visual impairment (HP:0100704); Optic nerve hypoplasia (HP:0000609); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of optic chiasm morphology (HP:0025163)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236623" "05684" "00311376" "03763" "Unknown" "07y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Intellectual disability, borderline (HP:0006889); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Attention deficit hyperactivity disorder (HP:0007018); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Sleep disturbance (HP:0002360); Generalized myoclonic seizure (HP:0002123); Typical absence seizure (HP:0011147);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236624" "05684" "00311377" "03763" "Isolated (sporadic)" "12y" "Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Attention deficit hyperactivity disorder (HP:0007018); Visual impairment (HP:0000505); Optic atrophy (HP:0000648); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Sleep disturbance (HP:0002360); Abnormal cerebral morphology (HP:0002060); Atonic seizure (HP:0010819); Abnormality of temperature regulation (HP:0004370)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Rolandic Epilepsy (ORPHA:1945)" "" "" ""
"0000237152" "05684" "00312023" "03763" "Isolated (sporadic)" "07y" "Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Dyschromatopsia (HP:0007641); Global developmental delay (HP:0001263)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237153" "04062" "00312024" "03763" "Isolated (sporadic)" "30y" "Intellectual disability (HP:0001249); Amblyopia (HP:0000646)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237154" "05684" "00312025" "03763" "Isolated (sporadic)" "40y" "Optic atrophy (HP:0000648); Reduced visual acuity (HP:0007663); Developmental cataract (HP:0000519); Hearing impairment (HP:0000365); Abnormality of visual evoked potentials (HP:0000649); Abnormal electroretinogram (HP:0000512); Congenital hip dislocation (HP:0001374);" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237155" "04062" "00312026" "03763" "Isolated (sporadic)" "70y" "Hearing impairment (HP:0000365); Herniation of intervertebral nuclei (HP:0008441)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237156" "05684" "00312027" "03763" "Isolated (sporadic)" "35y" "Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Generalized myoclonic seizure (HP:0002123); Intellectual disability (HP:0001249); Thick lower lip vermilion (HP:0000179); Protruding ear (HP:0000411); Abnormality of the outer ear (HP:0000356); Midface retrusion (HP:0011800)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237157" "05684" "00312028" "03763" "Isolated (sporadic)" "17y" "Optic atrophy (HP:0000648); Visual impairment (HP:0000505); Cognitive impairment (HP:0100543); Delayed ability to walk (HP:0031936); Abnormality of coordination (HP:0011443); Nystagmus (HP:0000639); Abnormality iris morphology (HP:0000525)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237158" "05684" "00312029" "03763" "Isolated (sporadic)" "" "Optic atrophy (HP:0000648); Abnormality of optic chiasm morphology (HP:0025163); Amblyopia (HP:0000646); Esotropia (HP:0000565); Intrauterine growth retardation (HP:0001511)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000237621" "05684" "00312526" "03763" "Unknown" "56y" "Reduced visual acuity (HP:0007663); Optic atrophy (HP:0000648); Epidural hemorrhage (HP:0100310); Carotid artery dissection (HP:0012158); Fractured clavicle bone (HP:0041144); Depressivity (HP:0000716); Memory impairment (HP:0002354); Cognitive impairment (HP:0100543); Alcoholism (HP:0030955)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000238101" "04062" "00311179" "03763" "Isolated (sporadic)" "07y" "Maternal diabetes (HP:0009800); Failure to thrive (HP:0001508); Muscular hypotonia (HP:0001252); Hypsarrhythmia (HP:0002521); Infantile spasms (HP:0012469); Abnormality of lateral ventricle (HP:0030047); Cognitive impairment (HP:0100543); Absent speech (HP:0001344); Autistic behavior (HP:0000729)" "00y01m" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000238103" "05684" "00311378" "03763" "Isolated (sporadic)" "06y" "Neurodevelopmental delay (HP:0012758); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Autistic behavior (HP:0000729); Behavioral abnormality (HP:0000708); Visual impairment (HP:0000505); Cerebral visual impairment (HP:0100704); Nystagmus (HP:0000639); Muscular hypotonia (HP:0001252); Hyperorality (HP:0000710); Impaired pain sensation (HP:0007328); Feeding difficulties (HP:0011968); Sleep disturbance (HP:0002360); Optic nerve hypoplasia (HP:0000609); Abnormality of temperature regulation (HP:0004370); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000238244" "05684" "00313944" "03763" "Isolated (sporadic)" "06y" "Low-set ears (HP:0000369); High forehead (HP:0000348); Reduced visual acuity (HP:0007663); Esotropia (HP:0000565); Optic atrophy (HP:0000648); Abnormal retinal nerve fiber layer morphology (HP:0020119); Abnormality of visual evoked potentials (HP:0000649)" "03y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000238251" "05684" "00313951" "03763" "Unknown" "32y" "Psychosis (HP:0000709); Optic atrophy (HP:0000648); Intellectual disability (HP:0001249); Seizure (HP:0001250); Decreased activity of mitochondrial complex I (HP:0011923)" "?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000242422" "04062" "00320445" "01164" "Unknown" "" "Optic atrophy (HP:0000648); Delayed speech and language development (HP:0000750); Intellectual disability (HP:0001249); Seizure (HP:0001250); Abnormality of higher mental function (HP:0011446); Abnormal nervous system physiology (HP:0012638); Neurodevelopmental delay (HP:0012758); Neurodevelopmental abnormality (HP:0012759); Abnormality of the optic disc (HP:0012795)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254035" "05684" "00358820" "00091" "Unknown" "22y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254036" "05684" "00358821" "00091" "Unknown" "" "Neurodevelopmental delay (HP:0012758); Dysarthria (HP:0001260); Reduced visual acuity HP:0007663; Hyperintensity of cerebral white matter on MRI (HP:0030890)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000254869" "04062" "00359597" "03763" "Unknown" "22y" "Reduced visual acuity (HP:0007663); Visual field defect (HP:0001123); Nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000271371" "05684" "00376160" "00091" "Unknown" "12y" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000273611" "05536" "00379757" "03508" "Familial, autosomal dominant" "" "Severely reduced visual acuity (HP:0001141); Nyctalopia (HP:0000662); Photophobia (HP:0000613); Visual field defect (HP:0001123); Nystagmus (HP:0000639); Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "albinism, ocular" "" "" ""
"0000278901" "00198" "00385119" "00091" "Unknown" "06y04m" "Psychomotor retardation (HP:0025356); Abnormality of brain morphology (HP:0012443)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 89
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000039641" "00039400" "1" "01158" "01158" "2015-06-15 14:53:39" "" "" "SEQ-NG" "DNA" "" ""
"0000039652" "00039410" "1" "01158" "01158" "2015-06-15 15:49:39" "00006" "2015-06-16 20:14:46" "SEQ-NG" "DNA" "" ""
"0000044052" "00043807" "1" "00091" "00006" "2015-06-21 20:41:21" "00091" "2021-05-05 14:24:15" "SEQ" "DNA" "" ""
"0000044053" "00043808" "1" "00091" "00006" "2015-06-21 20:53:14" "00091" "2021-05-05 14:47:00" "SEQ" "DNA" "" ""
"0000044054" "00043809" "1" "00006" "00006" "2015-06-21 20:58:57" "" "" "SEQ" "DNA" "" ""
"0000044055" "00043810" "1" "00091" "00006" "2015-06-21 21:07:42" "00091" "2021-05-05 14:07:14" "arraySNP" "DNA" "" ""
"0000044056" "00043811" "1" "00091" "00006" "2015-06-21 21:16:59" "00091" "2021-05-05 14:40:25" "arraySNP" "DNA" "" ""
"0000104341" "00103883" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000265015" "00263904" "1" "01164" "01164" "2019-08-30 19:56:57" "" "" "SEQ-NG-S" "DNA" "" ""
"0000297965" "00296855" "1" "01164" "01164" "2020-04-14 14:17:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000311181" "00310033" "1" "03763" "03763" "2020-09-08 11:07:11" "" "" "SEQ-NG" "DNA" "" ""
"0000311196" "00310047" "1" "03763" "03763" "2020-09-08 14:21:02" "" "" "SEQ-NG" "DNA" "" ""
"0000311204" "00310052" "1" "03763" "03763" "2020-09-08 15:21:31" "" "" "SEQ-NG" "DNA" "" ""
"0000311246" "00310097" "1" "03763" "03763" "2020-09-08 16:17:29" "" "" "SEQ-NG" "DNA" "" ""
"0000311350" "00310201" "1" "03763" "03763" "2020-09-09 14:31:48" "" "" "SEQ-NG" "DNA" "" ""
"0000311352" "00310203" "1" "03763" "03763" "2020-09-09 15:09:37" "" "" "SEQ-NG" "DNA" "" ""
"0000311355" "00310204" "1" "03763" "03763" "2020-09-09 15:49:46" "" "" "SEQ-NG" "DNA" "" ""
"0000311523" "00310373" "1" "03763" "03763" "2020-09-10 11:43:48" "00091" "2021-04-22 11:09:43" "SEQ-NG" "DNA" "" ""
"0000311754" "00310602" "1" "03763" "03763" "2020-09-10 15:07:17" "" "" "SEQ-NG" "DNA" "" ""
"0000311755" "00310603" "1" "03763" "03763" "2020-09-10 15:34:06" "" "" "SEQ-NG" "DNA" "" ""
"0000312176" "00311023" "1" "03763" "03763" "2020-09-14 10:18:43" "" "" "SEQ-NG" "DNA" "" ""
"0000312179" "00311026" "1" "03763" "03763" "2020-09-14 10:26:37" "" "" "SEQ-NG" "DNA" "" ""
"0000312194" "00311042" "1" "03763" "03763" "2020-09-14 10:49:27" "" "" "SEQ-NG" "DNA" "" ""
"0000312195" "00311043" "1" "03763" "03763" "2020-09-14 11:11:16" "" "" "SEQ-NG" "DNA" "" ""
"0000312196" "00311044" "1" "03763" "03763" "2020-09-14 11:34:27" "" "" "SEQ-NG" "DNA" "" ""
"0000312197" "00311045" "1" "03763" "03763" "2020-09-14 11:46:29" "" "" "SEQ-NG" "DNA" "" ""
"0000312198" "00311046" "1" "03763" "03763" "2020-09-14 11:53:38" "" "" "SEQ-NG" "DNA" "" ""
"0000312199" "00311047" "1" "03763" "03763" "2020-09-14 12:19:32" "" "" "SEQ-NG" "DNA" "" ""
"0000312213" "00311061" "1" "03763" "03763" "2020-09-15 09:57:26" "" "" "SEQ-NG" "DNA" "" ""
"0000312215" "00311063" "1" "03763" "03763" "2020-09-15 10:14:04" "" "" "SEQ-NG" "DNA" "" ""
"0000312216" "00311064" "1" "03763" "03763" "2020-09-15 10:29:15" "" "" "SEQ-NG" "DNA" "" ""
"0000312217" "00311065" "1" "03763" "03763" "2020-09-15 10:57:23" "" "" "SEQ-NG" "DNA" "" ""
"0000312218" "00311066" "1" "03763" "03763" "2020-09-15 11:05:32" "" "" "SEQ-NG" "DNA" "" ""
"0000312219" "00311067" "1" "03763" "03763" "2020-09-15 11:49:07" "" "" "SEQ-NG" "DNA" "" ""
"0000312229" "00311077" "1" "03763" "03763" "2020-09-16 09:19:09" "" "" "SEQ-NG" "DNA" "" ""
"0000312230" "00311078" "1" "03763" "03763" "2020-09-16 09:37:34" "" "" "SEQ-NG" "DNA" "" ""
"0000312231" "00311079" "1" "03763" "03763" "2020-09-16 09:48:45" "" "" "SEQ-NG" "DNA" "" ""
"0000312232" "00311080" "1" "03763" "03763" "2020-09-16 09:58:43" "" "" "SEQ-NG" "DNA" "" ""
"0000312240" "00311089" "1" "03763" "03763" "2020-09-17 10:11:17" "" "" "SEQ-NG" "DNA" "" ""
"0000312241" "00311090" "1" "03763" "03763" "2020-09-17 10:24:45" "" "" "SEQ-NG" "DNA" "" ""
"0000312242" "00311091" "1" "03763" "03763" "2020-09-17 10:55:00" "" "" "SEQ-NG" "DNA" "" ""
"0000312243" "00311092" "1" "03763" "03763" "2020-09-17 11:29:58" "" "" "SEQ-NG" "DNA" "" ""
"0000312244" "00311093" "1" "03763" "03763" "2020-09-17 11:55:46" "" "" "SEQ-NG" "DNA" "" ""
"0000312327" "00311172" "1" "03763" "03763" "2020-09-21 10:30:47" "" "" "SEQ-NG" "DNA" "" ""
"0000312330" "00311174" "1" "03763" "03763" "2020-09-21 10:54:19" "" "" "SEQ-NG" "DNA" "" ""
"0000312331" "00311175" "1" "03763" "03763" "2020-09-21 11:02:49" "" "" "SEQ-NG" "DNA" "" ""
"0000312332" "00311176" "1" "03763" "03763" "2020-09-21 11:11:29" "" "" "SEQ-NG" "DNA" "" ""
"0000312333" "00311177" "1" "03763" "03763" "2020-09-21 11:24:29" "" "" "SEQ-NG" "DNA" "" ""
"0000312334" "00311178" "1" "03763" "03763" "2020-09-21 11:33:58" "" "" "SEQ-NG" "DNA" "" ""
"0000312335" "00311179" "1" "03763" "03763" "2020-09-21 11:49:29" "" "" "SEQ-NG" "DNA" "" ""
"0000312518" "00311360" "1" "03763" "03763" "2020-09-22 11:11:57" "" "" "SEQ-NG" "DNA" "" ""
"0000312519" "00311361" "1" "03763" "03763" "2020-09-22 11:33:35" "" "" "SEQ-NG" "DNA" "" ""
"0000312520" "00311362" "1" "03763" "03763" "2020-09-22 11:45:16" "" "" "SEQ-NG" "DNA" "" ""
"0000312521" "00311363" "1" "03763" "03763" "2020-09-22 11:56:19" "" "" "SEQ-NG" "DNA" "" ""
"0000312522" "00311364" "1" "03763" "03763" "2020-09-22 12:05:54" "" "" "SEQ-NG" "DNA" "" ""
"0000312523" "00311365" "1" "03763" "03763" "2020-09-22 14:29:21" "" "" "SEQ-NG" "DNA" "" ""
"0000312524" "00311366" "1" "03763" "03763" "2020-09-22 14:36:34" "" "" "SEQ-NG" "DNA" "" ""
"0000312525" "00311367" "1" "03763" "03763" "2020-09-22 14:49:32" "" "" "SEQ-NG" "DNA" "" ""
"0000312526" "00311368" "1" "03763" "03763" "2020-09-23 10:22:31" "" "" "SEQ-NG" "DNA" "" ""
"0000312528" "00311369" "1" "03763" "03763" "2020-09-23 10:34:01" "" "" "SEQ-NG" "DNA" "" ""
"0000312529" "00311370" "1" "03763" "03763" "2020-09-23 10:49:20" "" "" "SEQ-NG" "DNA" "" ""
"0000312531" "00311371" "1" "03763" "03763" "2020-09-23 10:55:31" "" "" "SEQ-NG" "DNA" "" ""
"0000312532" "00311372" "1" "03763" "03763" "2020-09-23 11:06:30" "" "" "SEQ-NG" "DNA" "" ""
"0000312534" "00311373" "1" "03763" "03763" "2020-09-23 11:25:19" "" "" "SEQ-NG" "DNA" "" ""
"0000312535" "00311375" "1" "03763" "03763" "2020-09-23 11:34:36" "" "" "SEQ-NG" "DNA" "" ""
"0000312536" "00311376" "1" "03763" "03763" "2020-09-23 11:42:53" "" "" "SEQ-NG" "DNA" "" ""
"0000312537" "00311377" "1" "03763" "03763" "2020-09-23 11:50:27" "" "" "SEQ-NG" "DNA" "" ""
"0000312538" "00311378" "1" "03763" "03763" "2020-09-23 12:05:28" "" "" "SEQ-NG" "DNA" "" ""
"0000313195" "00312023" "1" "03763" "03763" "2020-09-30 10:49:23" "" "" "SEQ-NG" "DNA" "" ""
"0000313196" "00312024" "1" "03763" "03763" "2020-09-30 10:59:49" "" "" "SEQ-NG" "DNA" "" ""
"0000313197" "00312025" "1" "03763" "03763" "2020-09-30 11:06:35" "" "" "SEQ-NG" "DNA" "" ""
"0000313198" "00312026" "1" "03763" "03763" "2020-09-30 11:10:33" "" "" "SEQ-NG" "DNA" "" ""
"0000313199" "00312027" "1" "03763" "03763" "2020-09-30 11:22:20" "" "" "SEQ-NG" "DNA" "" ""
"0000313200" "00312028" "1" "03763" "03763" "2020-09-30 11:30:49" "" "" "SEQ-NG" "DNA" "" ""
"0000313201" "00312029" "1" "03763" "03763" "2020-09-30 11:39:49" "" "" "SEQ-NG" "DNA" "" ""
"0000313698" "00312526" "1" "03763" "03763" "2020-10-02 09:49:10" "" "" "SEQ-NG" "DNA" "" ""
"0000315117" "00313944" "1" "03763" "03763" "2020-10-08 10:07:19" "" "" "SEQ-NG" "DNA" "" ""
"0000315124" "00313951" "1" "03763" "03763" "2020-10-08 14:35:51" "" "" "SEQ-NG" "DNA" "" ""
"0000315925" "00314752" "1" "03763" "03763" "2020-10-16 16:09:30" "" "" "SEQ-NG" "DNA" "" ""
"0000321631" "00320445" "1" "01164" "01164" "2020-11-30 12:54:41" "" "" "SEQ-NG-I" "DNA" "" ""
"0000360050" "00358820" "1" "00091" "00091" "2021-03-13 11:11:15" "" "" "SEQ-NG" "DNA" "" ""
"0000360051" "00358821" "1" "00091" "00091" "2021-03-13 11:21:20" "" "" "SEQ-NG" "DNA" "" ""
"0000360827" "00359597" "1" "03763" "03763" "2021-03-30 11:03:44" "" "" "SEQ-NG" "DNA" "" ""
"0000377356" "00376160" "1" "00091" "00091" "2021-06-17 18:38:03" "" "" "SEQ-NG" "DNA" "" ""
"0000380958" "00379757" "1" "03508" "03508" "2021-08-09 04:53:24" "" "" "SEQ-NG-I" "DNA" "" ""
"0000386348" "00385119" "1" "00091" "00091" "2021-10-07 15:01:59" "" "" "SEQ-NG" "DNA" "" ""
"0000413542" "00412269" "1" "03508" "03508" "2022-06-26 09:45:29" "" "" "SEQ-NG-I" "DNA" "" ""
"0000413543" "00412270" "1" "03508" "03508" "2022-06-26 09:49:09" "" "" "SEQ-NG-I" "DNA" "" ""
"0000413544" "00412271" "1" "03508" "03508" "2022-06-26 09:51:48" "" "" "SEQ-NG-I" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 81
"{{screeningid}}" "{{geneid}}"
"0000039652" "ACP6"
"0000039652" "NR2F1"
"0000044052" "NR2F1"
"0000044053" "NR2F1"
"0000044054" "NR2F1"
"0000044055" "NR2F1"
"0000044056" "NR2F1"
"0000104341" "NR2F1"
"0000311181" "NR2F1"
"0000311196" "NR2F1"
"0000311204" "NR2F1"
"0000311246" "NR2F1"
"0000311350" "NR2F1"
"0000311352" "NR2F1"
"0000311355" "NR2F1"
"0000311523" "NR2F1"
"0000311754" "NR2F1"
"0000311755" "NR2F1"
"0000312176" "NR2F1"
"0000312179" "NR2F1"
"0000312194" "NR2F1"
"0000312195" "NR2F1"
"0000312196" "NR2F1"
"0000312197" "NR2F1"
"0000312198" "NR2F1"
"0000312199" "NR2F1"
"0000312213" "NR2F1"
"0000312215" "NR2F1"
"0000312216" "NR2F1"
"0000312217" "NR2F1"
"0000312218" "NR2F1"
"0000312219" "NR2F1"
"0000312229" "NR2F1"
"0000312230" "NR2F1"
"0000312231" "NR2F1"
"0000312232" "NR2F1"
"0000312240" "NR2F1"
"0000312241" "NR2F1"
"0000312243" "NR2F1"
"0000312244" "NR2F1"
"0000312327" "NR2F1"
"0000312330" "NR2F1"
"0000312331" "NR2F1"
"0000312332" "NR2F1"
"0000312333" "NR2F1"
"0000312334" "NR2F1"
"0000312335" "NR2F1"
"0000312518" "NR2F1"
"0000312519" "NR2F1"
"0000312520" "NR2F1"
"0000312521" "NR2F1"
"0000312522" "NR2F1"
"0000312523" "NR2F1"
"0000312524" "NR2F1"
"0000312525" "NR2F1"
"0000312526" "NR2F1"
"0000312528" "NR2F1"
"0000312529" "NR2F1"
"0000312531" "NR2F1"
"0000312532" "NR2F1"
"0000312534" "NR2F1"
"0000312535" "NR2F1"
"0000312536" "NR2F1"
"0000312537" "NR2F1"
"0000312538" "NR2F1"
"0000313195" "NR2F1"
"0000313196" "NR2F1"
"0000313197" "NR2F1"
"0000313198" "NR2F1"
"0000313199" "NR2F1"
"0000313200" "NR2F1"
"0000313201" "NR2F1"
"0000313698" "NR2F1"
"0000315117" "NR2F1"
"0000315124" "NR2F1"
"0000315925" "NR2F1"
"0000321631" "NR2F1"
"0000360050" "NR2F1"
"0000360051" "NR2F1"
"0000360827" "NR2F1"
"0000377356" "NR2F1"
## 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 = 126
"{{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}}"
"0000067255" "1" "90" "5" "92921073" "92921073" "subst" "0" "01158" "NR2F1_000002" "g.92921073G>C" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {OMIM132890:0001}" "" "" "" "De novo" "-" "" "0" "" "" "g.93585367G>C" "" "pathogenic (dominant)" ""
"0000067281" "1" "90" "5" "92921068" "92921068" "subst" "0" "01158" "NR2F1_000001" "g.92921068C>A" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {OMIM132890:0002}, {PMID:Bosch 2016:26350515}, {DOI:Bosch 2016:10.1038/ejhg.2015.186}" "" "" "" "De novo" "-" "rs587777275" "0" "" "" "g.93585362C>A" "" "pathogenic (dominant)" ""
"0000071858" "1" "90" "5" "92923914" "92923914" "subst" "0" "00091" "NR2F1_000003" "g.92923914T>C" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {OMIM132890:0003}" "" "" "" "De novo" "-" "rs587777276" "0" "" "" "g.93588208T>C" "" "pathogenic (dominant)" ""
"0000071859" "1" "90" "5" "92921064" "92921064" "subst" "0" "00091" "NR2F1_000004" "g.92921064G>A" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}, {OMIM132890:0004}" "" "" "" "De novo" "-" "rs587777277" "0" "" "" "g.93585358G>A" "" "pathogenic (dominant)" ""
"0000071860" "0" "50" "5" "92924068" "92924068" "subst" "0" "00006" "NR2F1_000005" "g.92924068G>C" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "" "not associated with disease phneotype" "Germline" "no" "" "0" "" "" "g.93588362G>C" "" "VUS" ""
"0000071861" "1" "90" "5" "92845157" "93679748" "" "0" "00091" "NR2F1_000043" "g.(?_92845157)_(93679748_?)del" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "92845157–93679748del" "0.83 Mb deletion; variant on paternal allele, father (unaffected) not avialable" "Unknown" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000071862" "1" "90" "5" "91064110" "93896378" "" "0" "00091" "NR2F1_000006" "g.(?_91064110)_(93896378_?)del" "" "{PMID:Bosch 2014:24462372}, {DOI:Bosch 2014:10.1016/j.ajhg.2014.01.002}" "" "91064110–93896378del" "2.85 Mb deletion" "De novo" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000170832" "1" "90" "5" "92921142" "92921142" "subst" "0" "00006" "NR2F1_000007" "g.92921142G>A" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "-" "" "0" "" "" "g.93585436G>A" "" "pathogenic (dominant)" ""
"0000293251" "0" "30" "5" "92929292" "92929292" "subst" "0.00000410988" "02330" "NR2F1_000014" "g.92929292C>T" "" "" "" "NR2F1(NM_005654.6):c.1016C>T (p.A339V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93593586C>T" "" "likely benign" ""
"0000293252" "0" "30" "5" "92920966" "92920966" "subst" "0.000398974" "02330" "NR2F1_000008" "g.92920966G>C" "" "" "" "NR2F1(NM_005654.6):c.237G>C (p.Q79H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585260G>C" "" "likely benign" ""
"0000293253" "0" "10" "5" "92924169" "92924169" "subst" "0.00000556204" "02330" "NR2F1_000013" "g.92924169G>A" "" "" "" "NR2F1(NM_005654.6):c.991+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93588463G>A" "" "benign" ""
"0000300417" "0" "70" "5" "92921165" "92921165" "subst" "0" "02326" "NR2F1_000010" "g.92921165T>C" "" "" "" "NR2F1(NM_005654.6):c.436T>C (p.C146R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585459T>C" "" "likely pathogenic" ""
"0000304521" "0" "50" "5" "92921181" "92921181" "subst" "0" "01943" "NR2F1_000011" "g.92921181T>C" "" "" "" "NR2F1(NM_005654.5):c.452T>C (p.M151T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585475T>C" "" "VUS" ""
"0000330464" "0" "50" "5" "92921013" "92921013" "subst" "0" "01804" "NR2F1_000009" "g.92921013G>T" "" "" "" "NR2F1(NM_005654.4):c.284G>T (p.(Gly95Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585307G>T" "" "VUS" ""
"0000330465" "0" "70" "5" "92923672" "92923672" "subst" "0" "02333" "NR2F1_000012" "g.92923672C>A" "" "" "" "NR2F1(NM_005654.4):c.513C>A (p.(Tyr171Ter))" "VKGL data sharing initiative Nederland; Variant no longer found in the VKGL dataset for this center." "CLASSIFICATION record" "" "" "0" "" "" "g.93587966C>A" "" "likely pathogenic (dominant)" ""
"0000341875" "0" "70" "5" "92921132" "92921132" "subst" "0" "02327" "NR2F1_000018" "g.92921132C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585426C>T" "" "likely pathogenic" ""
"0000342763" "0" "90" "5" "92929393" "92929393" "subst" "0" "02327" "NR2F1_000021" "g.92929393C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93593687C>T" "" "pathogenic" ""
"0000345352" "0" "90" "5" "92924113" "92924113" "subst" "0" "02327" "NR2F1_000019" "g.92924113G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93588407G>C" "" "pathogenic" ""
"0000345633" "0" "90" "5" "92921043" "92921043" "subst" "0" "02327" "NR2F1_000017" "g.92921043G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585337G>A" "" "pathogenic" ""
"0000345804" "0" "50" "5" "92920778" "92920778" "subst" "0" "02327" "NR2F1_000015" "g.92920778G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585072G>C" "" "VUS" ""
"0000347525" "0" "70" "5" "92924127" "92924127" "subst" "0" "02327" "NR2F1_000020" "g.92924127A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93588421A>C" "" "likely pathogenic" ""
"0000348326" "0" "50" "5" "92920802" "92920802" "subst" "0" "02327" "NR2F1_000016" "g.92920802C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585096C>G" "" "VUS" ""
"0000348662" "0" "90" "5" "92921068" "92921068" "subst" "0" "02327" "NR2F1_000001" "g.92921068C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.93585362C>A" "" "pathogenic" ""
"0000526477" "0" "50" "5" "92920836" "92920836" "subst" "0" "01943" "NR2F1_000022" "g.92920836G>C" "" "" "" "NR2F1(NM_005654.5):c.107G>C (p.G36A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93585130G>C" "" "VUS" ""
"0000526478" "0" "50" "5" "92921049" "92921049" "subst" "0" "01943" "NR2F1_000023" "g.92921049A>G" "" "" "" "NR2F1(NM_005654.5):c.320A>G (p.K107R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93585343A>G" "" "VUS" ""
"0000526479" "0" "70" "5" "92921192" "92921192" "subst" "0" "02327" "NR2F1_000024" "g.92921192G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93585486G>A" "" "likely pathogenic" ""
"0000526480" "0" "50" "5" "92929301" "92929301" "subst" "0" "01943" "NR2F1_000025" "g.92929301A>G" "" "" "" "NR2F1(NM_005654.5):c.1025A>G (p.E342G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593595A>G" "" "VUS" ""
"0000526481" "0" "70" "5" "92929372" "92929372" "subst" "0" "02327" "NR2F1_000026" "g.92929372C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593666C>T" "" "likely pathogenic" ""
"0000526482" "0" "50" "5" "92929434" "92929434" "subst" "0" "02325" "NR2F1_000027" "g.92929434G>T" "" "" "" "NR2F1(NM_005654.6):c.1158G>T (p.E386D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593728G>T" "" "VUS" ""
"0000526483" "0" "30" "5" "92929557" "92929557" "subst" "0.000188181" "02330" "NR2F1_000028" "g.92929557C>T" "" "" "" "NR2F1(NM_005654.6):c.*9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593851C>T" "" "likely benign" ""
"0000595596" "0" "70" "5" "92921018" "92921018" "subst" "0" "01164" "NR2F1_000029" "g.92921018C>T" "" "" "" "" "ACMG grading: PM6,PP3,PS1,PM2" "Germline" "" "" "0" "" "" "g.93585312C>T" "" "likely pathogenic (dominant)" "ACMG"
"0000609868" "0" "30" "5" "92923867" "92923867" "subst" "0.000121868" "01943" "NR2F1_000030" "g.92923867C>T" "" "" "" "NR2F1(NM_005654.5):c.708C>T (p.N236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93588161C>T" "" "likely benign" ""
"0000609869" "0" "50" "5" "92929423" "92929425" "del" "0" "02330" "NR2F1_000031" "g.92929423_92929425del" "" "" "" "NR2F1(NM_005654.5):c.1147_1149delTCC (p.S383del)" "VKGL data sharing initiative Nederland; Variant no longer found in the VKGL dataset for this center." "CLASSIFICATION record" "" "" "0" "" "" "g.93593717_93593719del" "" "VUS" ""
"0000609870" "0" "70" "5" "92929459" "92929459" "subst" "0" "02327" "NR2F1_000032" "g.92929459G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.93593753G>T" "" "likely pathogenic" ""
"0000660673" "0" "70" "5" "92920807" "92920825" "del" "0" "01164" "NR2F1_000033" "g.92920807_92920825del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.93585101_93585119del" "" "likely pathogenic (dominant)" "ACMG"
"0000686484" "1" "90" "5" "92921042" "92921042" "subst" "0" "03763" "NR2F1_000034" "g.92921042G>A" "" "{PMID:Mio 2020:32412696}" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000686518" "0" "70" "5" "92921042" "92921042" "subst" "0" "03763" "NR2F1_000034" "g.92921042G>A" "" "{PMID:Mio 2020:32412696}" "" "" "" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000686573" "0" "90" "5" "92921048" "92921048" "subst" "0" "03763" "NR2F1_000035" "g.92921048A>G" "" "{PMID:Starosta 2020:32407885}" "" "" "" "De novo" "?" "" "" "" "" "" "" "pathogenic (dominant)" ""
"0000686580" "1" "70" "5" "92929493" "92929493" "subst" "0" "03763" "NR2F1_000036" "g.92929493T>C" "" "{PMID:Jezela-Stanek 2020:32337850}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000686718" "0" "70" "5" "92920811" "92920811" "subst" "0" "03763" "NR2F1_000037" "g.92920811C>T" "" "{PMID:Bojanek 2019:31729143}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000686721" "0" "70" "5" "92923672" "92923672" "subst" "0" "03763" "NR2F1_000038" "g.92923672C>G" "" "{PMID:Park 2019:31393201}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000686729" "1" "90" "5" "92921015" "92921015" "subst" "0" "03763" "NR2F1_000040" "g.92921015A>G" "" "{PMID:Martin-Hernandez 2019:29410510}" "" "" "" "De novo" "?" "" "" "" "" "" "" "pathogenic (dominant)" ""
"0000686954" "1" "70" "5" "92920986" "92920986" "subst" "0" "03763" "NR2F1_000039" "g.92920986G>T" "" "{PMID:Kaiwar 2017:28963436]}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687259" "1" "70" "5" "92921111" "92921111" "subst" "0" "03763" "NR2F1_000041" "g.92921111T>C" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687260" "1" "70" "5" "92921142" "92921142" "subst" "0" "03763" "NR2F1_000007" "g.92921142G>A" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687730" "1" "70" "5" "92921154" "92921154" "subst" "0" "03763" "NR2F1_000058" "g.92921154G>T" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000687732" "1" "70" "5" "92921165" "92921165" "subst" "0" "03763" "NR2F1_000010" "g.92921165T>C" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687750" "1" "70" "5" "92921057" "92921059" "del" "0" "03763" "NR2F1_000057" "g.92921057_92921059del" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687752" "1" "70" "5" "92920832" "92920842" "delins" "0" "03763" "NR2F1_000053" "g.92920832_92920842delinsCGCCGCCGC" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687753" "1" "70" "5" "92921020" "92921020" "del" "0" "03763" "NR2F1_000055" "g.92921020del" "" "{PMID:Chen 2016:26986877}" "" "291delC (His79Hisfs*22)" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687754" "1" "90" "5" "92920731" "92920731" "subst" "0" "03763" "NR2F1_000052" "g.92920731T>G" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000687755" "1" "90" "5" "92920731" "92920731" "subst" "0" "03763" "NR2F1_000052" "g.92920731T>G" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000687756" "1" "90" "5" "92920731" "92920731" "subst" "0" "03763" "NR2F1_000048" "g.92920731T>C" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000687773" "1" "90" "5" "92920731" "92920733" "delins" "0" "03763" "NR2F1_000042" "g.92920731_92920733delinsGGA" "" "{PMID:Chen 2016:26986877}" "" "c.2_4delTGGinsGGA" "Inconsistency between the body of the manuscript (c.2_4delTGGinsGGA, p. 1146) and Table 1 (c.2_4delinsTGG) in the article by Chen et al, Genet Med (2016). Because the mutation named in the table is isosemantic and incompatible with the described protein consequence, the body of the manuscript was considered (c.2_4delTGGinsGGA, renamed according to HGVS nomenclature to c.2_4delinsGGA)." "De novo" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000687776" "1" "70" "5" "92856299" "93054636" "del" "0" "03763" "NR2F1_000043" "g.(?_92856299)_(93054636_?)del" "" "{PMID:Chen 2016:26986877}" "" "92856299_93054636 del" "0.2Mb deletion" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687777" "1" "70" "5" "92910393" "93806933" "del" "0" "03763" "NR2F1_000043" "g.(?_92910393)_(93806933_?)del" "" "{PMID:Chen 2016:26986877}" "" "92910393_93806933del" "0.9Mb deletion" "Unknown" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687778" "11" "70" "5" "92910393" "93806933" "del" "0" "03763" "NR2F1_000043" "g.(?_92910393)_(93806933_?)del" "" "{PMID:Chen 2016:26986877}" "" "" "0.9Mb deletion" "Uniparental disomy, paternal allele" "yes" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687779" "1" "70" "5" "92878375" "94046216" "del" "0" "03763" "NR2F1_000045" "g.(?_92878375)_(94046216_?)del" "" "{PMID:Chen 2016:26986877}" "" "92878375_94046216del" "1.2Mb deletion" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000687780" "1" "70" "5" "92921132" "92921132" "subst" "0" "03763" "NR2F1_000018" "g.92921132C>T" "" "{PMID:Hino-Fukuyo 2017:28654857}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693793" "1" "70" "5" "92921154" "92921154" "subst" "0" "03763" "NR2F1_000059" "g.92921154G>A" "" "{PMID:Bertacchi 2020:32484994}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693794" "1" "70" "5" "92920844" "92920844" "subst" "0" "03763" "NR2F1_000054" "g.92920844G>T" "" "{PMID:Bertacchi 2020:32484994}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693795" "0" "70" "5" "92923888" "92923889" "delins" "0" "03763" "NR2F1_000060" "g.92923888_92923889delinsCT" "" "{PMID:Bertacchi 2020:32484994}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693796" "1" "90" "5" "92920731" "92920731" "subst" "0" "03763" "NR2F1_000048" "g.92920731T>C" "" "{PMID:Bertacchi 2020:32484994}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000693797" "1" "70" "5" "92921021" "92921021" "subst" "0" "03763" "NR2F1_000056" "g.92921021T>C" "" "{PMID:Bertacchi 2020:32484994}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693798" "1" "70" "5" "92924127" "92924128" "del" "0" "03763" "NR2F1_000061" "g.92924127_92924128del" "" "{PMID:Bertacchi 2020:32484994}" "" "967_968delAA" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693799" "1" "70" "5" "92717119" "93298594" "del" "0" "03763" "NR2F1_000049" "g.(?_92717119)_(93298594_?)del" "" "{PMID:Al-Kateb 2013:23300014}" "" "hg18 del 92,742,875 to 93,324,350 bp" "582 kb deletion incl. FLJ42709, NR2F1, FAM172A, POU5F2, MIR2277" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693800" "0" "70" "5" "92691223" "92784673" "del" "0" "03763" "NR2F1_000050" "g.(92593206_92691223)_(92784673_93074143)del" "" "{PMID:Brown 2009:19353646}" "" "" "NR2F1 and AK124699 removed, C5ORF21 partially deleted, cryptic 450-460kB deletion near both q15 and 5q33.2 break points" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693801" "0" "70" "5" "92929359" "92929359" "del" "0" "03763" "NR2F1_000051" "g.92929359del" "" "{PMID:Walsh 2020:32712214}" "" "NM_005654.5:c.1080del" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693911" "0" "70" "5" "92929391" "92929391" "subst" "0" "03763" "NR2F1_000079" "g.92929391T>C" "" "{PMID:Kaiwar 2017:28963436}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693914" "1" "70" "5" "92921132" "92921132" "subst" "0" "03763" "NR2F1_000075" "g.92921132C>A" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693915" "1" "70" "5" "92921192" "92921192" "subst" "0" "03763" "NR2F1_000024" "g.92921192G>A" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693916" "1" "70" "5" "92929379" "92929379" "subst" "0" "03763" "NR2F1_000078" "g.92929379G>A" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693917" "1" "90" "5" "92920731" "92920731" "subst" "0" "03763" "NR2F1_000048" "g.92920731T>C" "" "{PMID:Chen 2016:26986877}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000693918" "0" "70" "5" "90566268" "95580992" "del" "0" "03763" "NR2F1_000062" "g.(?_90566268)_(95580992_?)del" "" "{PMID:Chen 2016:26986877}" "" "90566268_95580992del" "5Mb deletion" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000693919" "1" "70" "5" "92921057" "92921059" "del" "0" "03763" "NR2F1_000057" "g.92921057_92921059del" "" "{PMID:Dimassi 2016:26138355}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694104" "1" "70" "5" "92920985" "92920985" "subst" "0" "03763" "NR2F1_000067" "g.92920985T>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694105" "1" "70" "5" "92920991" "92920991" "subst" "0" "03763" "NR2F1_000068" "g.92920991G>A" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694106" "0" "70" "5" "92921013" "92921013" "subst" "0" "03763" "NR2F1_000009" "g.92921013G>T" "" "{PMID:Rech 2020:32275123}" "" "" "" "Unknown" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694107" "0" "70" "5" "92921019" "92921019" "subst" "0" "03763" "NR2F1_000069" "g.92921019A>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "Unknown" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694108" "0" "70" "5" "92921022" "92921022" "subst" "0" "03763" "NR2F1_000070" "g.92921022A>G" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694109" "0" "70" "5" "92921040" "92921040" "subst" "0" "03763" "NR2F1_000071" "g.92921040A>G" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694110" "0" "70" "5" "92921052" "92921052" "subst" "0" "03763" "NR2F1_000072" "g.92921052G>T" "" "{PMID:Rech 2020:32275123}" "" "" "" "Unknown" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694111" "0" "70" "5" "92921094" "92921094" "subst" "0" "03763" "NR2F1_000073" "g.92921094G>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694115" "1" "70" "5" "92921146" "92921146" "subst" "0" "03763" "NR2F1_000076" "g.92921146A>T" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694116" "21" "90" "5" "92414689" "94864863" "del" "0" "03763" "NR2F1_000063" "g.92414689_94864863del" "" "{PMID:Rech 2020:32275123}" "" "chr5:92,414,689-94,864,863 (hg19/GRCh37)" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000694117" "0" "90" "5" "92594997" "93569402" "del" "0" "03763" "NR2F1_000064" "g.92594997_93569402del" "" "{PMID:Rech 2020:32275123}" "" "chr5:92,594,997-93,569,402 (hg19)" "" "Unknown" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000694118" "0" "90" "5" "92920730" "92920730" "subst" "0" "03763" "NR2F1_000065" "g.92920730A>G" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000694120" "0" "90" "5" "92920731" "92920731" "subst" "0" "03763" "NR2F1_000048" "g.92920731T>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000694121" "0" "70" "5" "92921109" "92921109" "dup" "0" "03763" "NR2F1_000074" "g.92921109dup" "" "{PMID:Rech 2020:32275123}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694123" "1" "70" "5" "92929393" "92929393" "subst" "0" "03763" "NR2F1_000021" "g.92929393C>T" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694124" "0" "70" "5" "92924090" "92924090" "subst" "0" "03763" "NR2F1_000077" "g.92924090G>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "Unknown" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694125" "1" "70" "5" "92924113" "92924113" "subst" "0" "03763" "NR2F1_000019" "g.92924113G>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694126" "1" "70" "5" "92929493" "92929493" "subst" "0" "03763" "NR2F1_000036" "g.92929493T>C" "" "{PMID:Rech 2020:32275123}" "" "" "" "De novo" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694929" "21" "70" "5" "92921052" "92921052" "subst" "0" "03763" "NR2F1_000080" "g.92921052G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694930" "0" "70" "5" "92921052" "92921052" "subst" "0" "03763" "NR2F1_000080" "g.92921052G>A" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694931" "21" "70" "5" "92920966" "92920966" "subst" "0.000398974" "03763" "NR2F1_000008" "g.92920966G>C" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694932" "0" "70" "5" "92920966" "92920966" "subst" "0.000398974" "03763" "NR2F1_000008" "g.92920966G>C" "" "" "" "" "" "Unknown" "yes" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694933" "0" "70" "5" "92921018" "92921018" "subst" "0" "03763" "NR2F1_000029" "g.92921018C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694934" "1" "70" "5" "92929474" "92929474" "subst" "0" "03763" "NR2F1_000083" "g.92929474G>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000694935" "0" "70" "5" "92929300" "92929300" "subst" "0" "03763" "NR2F1_000082" "g.92929300G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000695597" "0" "50" "5" "92924042" "92924042" "subst" "0" "03763" "NR2F1_000081" "g.92924042T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000697192" "1" "90" "5" "92923761" "92923761" "subst" "0" "03763" "NR2F1_000085" "g.92923761C>A" "" "{PMID:Zou 2020:32011206}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic (dominant)" ""
"0000697200" "0" "50" "5" "92920982" "92920982" "subst" "0" "03763" "NR2F1_000084" "g.92920982G>T" "" "{PMID:Hobbs 2020:31913971}" "" "" "" "De novo" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000698032" "1" "70" "5" "92921095" "92921095" "subst" "0" "03763" "NR2F1_000086" "g.92921095C>G" "" "{PMID:Balciuniene 2019:30977854}" "" "" "" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000704550" "0" "70" "5" "92929444" "92929446" "del" "0" "01164" "NR2F1_000087" "g.92929444_92929446del" "" "" "" "" "ACMG: PM2; PM4; PP3 class 3" "Germline" "?" "" "" "" "" "" "{CV:000420405}" "VUS (!)" "ACMG"
"0000720539" "0" "90" "5" "92923762" "92923765" "del" "0" "01943" "NR2F1_000088" "g.92923762_92923765del" "" "" "" "NR2F1(NM_005654.5):c.603_606delGCGC (p.R202Tfs*154)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000720540" "0" "50" "5" "92929423" "92929425" "del" "0" "02329" "NR2F1_000031" "g.92929423_92929425del" "" "" "" "NR2F1(NM_005654.6):c.1147_1149delTCC (p.S383del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000720541" "0" "70" "5" "92929460" "92929460" "subst" "0" "02327" "NR2F1_000089" "g.92929460G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000759728" "1" "90" "5" "92924013" "92924013" "subst" "0" "00091" "NR2F1_000090" "g.92924013C>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000759729" "1" "70" "5" "92924124" "92924124" "subst" "0" "00091" "NR2F1_000091" "g.92924124T>A" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000760930" "0" "70" "5" "92920921" "92920921" "del" "0" "03763" "NR2F1_000092" "g.92920921del" "" "" "" "" "" "Unknown" "?" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000789674" "1" "70" "5" "92921097" "92921097" "subst" "0" "00091" "NR2F1_000093" "g.92921097G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" ""
"0000794207" "0" "70" "5" "92920780" "92920798" "dup" "0" "03508" "NR2F1_000094" "g.92920780_92920798dup" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.93585074_93585092dup" "" "pathogenic" "ACMG"
"0000802232" "0" "50" "5" "92921052" "92921052" "subst" "0" "02325" "NR2F1_000095" "g.92921052G>C" "" "" "" "NR2F1(NM_005654.6):c.323G>C (p.S108T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802233" "0" "90" "5" "92923672" "92923672" "subst" "0" "02330" "NR2F1_000012" "g.92923672C>A" "" "" "" "NR2F1(NM_005654.6):c.513C>A (p.Y171*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" ""
"0000802234" "0" "90" "5" "92923694" "92923694" "dup" "0" "01943" "NR2F1_000096" "g.92923694dup" "" "" "" "NR2F1(NM_005654.5):c.535dupC (p.L179Pfs*218)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000802235" "0" "50" "5" "92923740" "92923740" "subst" "0" "02325" "NR2F1_000097" "g.92923740G>T" "" "" "" "NR2F1(NM_005654.6):c.581G>T (p.R194L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000802236" "0" "50" "5" "92929300" "92929300" "subst" "0" "02327" "NR2F1_000082" "g.92929300G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000813829" "1" "90" "5" "92921043" "92921043" "subst" "0" "00091" "NR2F1_000017" "g.92921043G>A" "" "{PMID:Vissers 2017:28333917}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000850998" "0" "30" "5" "92929290" "92929290" "subst" "0.0000862359" "01943" "NR2F1_000099" "g.92929290G>A" "" "" "" "NR2F1(NM_005654.5):c.1014G>A (p.A338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000860035" "0" "50" "5" "92921137" "92921137" "subst" "0" "01943" "NR2F1_000098" "g.92921137C>A" "" "" "" "NR2F1(NM_005654.5):c.408C>A (p.N136K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000871049" "0" "90" "5" "92923672" "92923672" "subst" "0" "03508" "NR2F1_000038" "g.92923672C>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "ACMG"
"0000871050" "0" "90" "5" "92920820" "92920822" "dup" "0" "03508" "NR2F1_000100" "g.92920820_92920822dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.93585114_93585116dup" "" "likely pathogenic" "ACMG"
"0000871051" "0" "90" "5" "92929356" "92929356" "subst" "0" "03508" "NR2F1_000101" "g.92929356C>A" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000897420" "0" "70" "5" "92920991" "92920991" "subst" "0" "03779" "NR2F1_000102" "g.92920991G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000924393" "0" "70" "5" "92921048" "92921048" "subst" "0" "02327" "NR2F1_000035" "g.92921048A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes NR2F1
## Count = 126
"{{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}}"
"0000067255" "00014783" "90" "344" "0" "344" "0" "c.344G>C" "r.(?)" "p.(Arg115Pro)" "1"
"0000067281" "00014783" "90" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Ser113Arg)" "1"
"0000071858" "00014783" "90" "755" "0" "755" "0" "c.755T>C" "r.(?)" "p.(Leu252Pro)" "2"
"0000071859" "00014783" "90" "335" "0" "335" "0" "c.335G>A" "r.(?)" "p.(Arg112Lys)" "1"
"0000071860" "00014783" "50" "909" "0" "909" "0" "c.909G>C" "r.(?)" "p.(Gln303His)" "2"
"0000071861" "00014783" "90" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000071862" "00014783" "90" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000170832" "00014783" "90" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Cys138Tyr)" "1"
"0000293251" "00014783" "30" "1016" "0" "1016" "0" "c.1016C>T" "r.(?)" "p.(Ala339Val)" ""
"0000293252" "00014783" "30" "237" "0" "237" "0" "c.237G>C" "r.(?)" "p.(Gln79His)" ""
"0000293253" "00014783" "10" "991" "19" "991" "19" "c.991+19G>A" "r.(=)" "p.(=)" ""
"0000300417" "00014783" "70" "436" "0" "436" "0" "c.436T>C" "r.(?)" "p.(Cys146Arg)" ""
"0000304521" "00014783" "50" "452" "0" "452" "0" "c.452T>C" "r.(?)" "p.(Met151Thr)" ""
"0000330464" "00014783" "50" "284" "0" "284" "0" "c.284G>T" "r.(?)" "p.(Gly95Val)" ""
"0000330465" "00014783" "70" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Tyr171*)" ""
"0000341875" "00014783" "70" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Cys)" ""
"0000342763" "00014783" "90" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373Ter)" ""
"0000345352" "00014783" "90" "954" "0" "954" "0" "c.954G>C" "r.(?)" "p.(Glu318Asp)" ""
"0000345633" "00014783" "90" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Gly105Asp)" ""
"0000345804" "00014783" "50" "49" "0" "49" "0" "c.49G>C" "r.(?)" "p.(Gly17Arg)" ""
"0000347525" "00014783" "70" "968" "0" "968" "0" "c.968A>C" "r.(?)" "p.(Lys323Thr)" ""
"0000348326" "00014783" "50" "73" "0" "73" "0" "c.73C>G" "r.(?)" "p.(Pro25Ala)" ""
"0000348662" "00014783" "90" "339" "0" "339" "0" "c.339C>A" "r.(?)" "p.(Ser113Arg)" ""
"0000526477" "00014783" "50" "107" "0" "107" "0" "c.107G>C" "r.(?)" "p.(Gly36Ala)" ""
"0000526478" "00014783" "50" "320" "0" "320" "0" "c.320A>G" "r.(?)" "p.(Lys107Arg)" ""
"0000526479" "00014783" "70" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" ""
"0000526480" "00014783" "50" "1025" "0" "1025" "0" "c.1025A>G" "r.(?)" "p.(Glu342Gly)" ""
"0000526481" "00014783" "70" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Cys)" ""
"0000526482" "00014783" "50" "1158" "0" "1158" "0" "c.1158G>T" "r.(?)" "p.(Glu386Asp)" ""
"0000526483" "00014783" "30" "1281" "0" "1281" "0" "c.*9C>T" "r.(=)" "p.(=)" ""
"0000595596" "00014783" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(His97Tyr)" ""
"0000609868" "00014783" "30" "708" "0" "708" "0" "c.708C>T" "r.(?)" "p.(Asn236=)" ""
"0000609869" "00014783" "50" "1147" "0" "1149" "0" "c.1147_1149del" "r.(?)" "p.(Ser383del)" ""
"0000609870" "00014783" "70" "1183" "0" "1183" "0" "c.1183G>T" "r.(?)" "p.(Gly395Cys)" ""
"0000660673" "00014783" "70" "78" "0" "96" "0" "c.78_96del" "r.(?)" "p.(Gln28Alafs*85)" ""
"0000686484" "00014783" "90" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Gly105Ser)" ""
"0000686518" "00014783" "70" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Gly105Ser)" ""
"0000686573" "00014783" "90" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Lys107Glu)" ""
"0000686580" "00014783" "70" "1217" "0" "1217" "0" "c.1217T>C" "r.(?)" "p.(Met406Thr)" ""
"0000686718" "00014783" "70" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Gln28*)" ""
"0000686721" "00014783" "70" "513" "0" "513" "0" "c.513C>G" "r.(?)" "p.(Tyr171*)" ""
"0000686729" "00014783" "90" "286" "0" "286" "0" "c.286A>G" "r.(?)" "p.(Lys96Glu)" ""
"0000686954" "00014783" "70" "257" "0" "257" "0" "c.257G>T" "r.(?)" "p.(Cys86Phe)" ""
"0000687259" "00014783" "70" "382" "0" "382" "0" "c.382T>C" "r.(?)" "p.(Cys128Arg)" ""
"0000687260" "00014783" "70" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Cys138Tyr)" ""
"0000687730" "00014783" "70" "425" "0" "425" "0" "c.425G>T" "r.(?)" "p.(Arg142Leu)" ""
"0000687732" "00014783" "70" "436" "0" "436" "0" "c.436T>C" "r.(?)" "p.(Cys146Arg)" ""
"0000687750" "00014783" "70" "328" "0" "330" "0" "c.328_330del" "r.(?)" "p.(Phe110del)" ""
"0000687752" "00014783" "70" "103" "0" "113" "0" "c.103_113delinsCGCCGCCGC" "r.(?)" "p.(Gly35Argfs*361)" ""
"0000687753" "00014783" "70" "291" "0" "291" "0" "c.291del" "r.(?)" "p.(Tyr98Thrfs*21)" ""
"0000687754" "00014783" "90" "2" "0" "2" "0" "c.2T>G" "r.0" "p.0" ""
"0000687755" "00014783" "90" "2" "0" "2" "0" "c.2T>G" "r.0" "p.0" ""
"0000687756" "00014783" "90" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" ""
"0000687773" "00014783" "90" "2" "0" "4" "0" "c.2_4delinsGGA" "r.0" "p.0" ""
"0000687776" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000687777" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000687778" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000687779" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000687780" "00014783" "70" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Arg135Cys)" ""
"0000693793" "00014783" "70" "425" "0" "425" "0" "c.425G>A" "r.(?)" "p.(Arg142His)" ""
"0000693794" "00014783" "70" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Glu39*)" ""
"0000693795" "00014783" "70" "729" "0" "730" "0" "c.729_730delinsCT" "r.(?)" "p.(Gln244*)" ""
"0000693796" "00014783" "90" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" ""
"0000693797" "00014783" "70" "292" "0" "292" "0" "c.292T>C" "r.(?)" "p.(Tyr98His)" ""
"0000693798" "00014783" "70" "968" "0" "969" "0" "c.968_969del" "r.(?)" "p.(Lys323Serfs*73)" ""
"0000693799" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000693800" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000693801" "00014783" "70" "1083" "0" "1083" "0" "c.1083del" "r.(?)" "p.(Asn362Thrfs*33)" ""
"0000693911" "00014783" "70" "1115" "0" "1115" "0" "c.1115T>C" "r.(?)" "p.(Leu372Pro)" ""
"0000693914" "00014783" "70" "403" "0" "403" "0" "c.403C>A" "r.(?)" "p.(Arg135Ser)" ""
"0000693915" "00014783" "70" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Ala155Thr)" ""
"0000693916" "00014783" "70" "1103" "0" "1103" "0" "c.1103G>A" "r.(?)" "p.(Gly368Asp)" ""
"0000693917" "00014783" "90" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" ""
"0000693918" "00014783" "70" "0" "0" "0" "0" "c.-1687_*240{0}" "r.0" "p.0" "_1_3_"
"0000693919" "00014783" "70" "328" "0" "330" "0" "c.328_330del" "r.(?)" "p.(Phe110del)" ""
"0000694104" "00014783" "70" "256" "0" "256" "0" "c.256T>C" "r.(?)" "p.(Cys86Arg)" ""
"0000694105" "00014783" "70" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Val88Met)" ""
"0000694106" "00014783" "70" "284" "0" "284" "0" "c.284G>T" "r.(?)" "p.(Gly95Val)" ""
"0000694107" "00014783" "70" "290" "0" "290" "0" "c.290A>C" "r.(?)" "p.(His97Pro)" ""
"0000694108" "00014783" "70" "293" "0" "293" "0" "c.293A>G" "r.(?)" "p.(Tyr98Cys)" ""
"0000694109" "00014783" "70" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Glu104Gly)" ""
"0000694110" "00014783" "70" "323" "0" "323" "0" "c.323G>T" "r.(?)" "p.(Ser108Ile)" ""
"0000694111" "00014783" "70" "365" "0" "365" "0" "c.365G>C" "r.(?)" "p.(Cys122Ser)" ""
"0000694115" "00014783" "70" "417" "0" "417" "0" "c.417A>T" "r.(?)" "p.(Gln139His)" ""
"0000694116" "00014783" "90" "-506041" "0" "1936587" "0" "c.-506041_*1935315del" "r.0" "p.0" ""
"0000694117" "00014783" "90" "-325733" "0" "641126" "0" "c.-325733_*639854del" "r.0" "p.0" ""
"0000694118" "00014783" "90" "1" "0" "1" "0" "c.1A>G" "r.0" "p.0" ""
"0000694120" "00014783" "90" "2" "0" "2" "0" "c.2T>C" "r.0" "p.0" ""
"0000694121" "00014783" "70" "380" "0" "380" "0" "c.380dup" "r.(?)" "p.(Asn127Lysfs*270)" ""
"0000694123" "00014783" "70" "1117" "0" "1117" "0" "c.1117C>T" "r.(?)" "p.(Arg373*)" ""
"0000694124" "00014783" "70" "931" "0" "931" "0" "c.931G>C" "r.(?)" "p.(Ala311Pro)" ""
"0000694125" "00014783" "70" "954" "0" "954" "0" "c.954G>C" "r.(?)" "p.(Glu318Asp)" ""
"0000694126" "00014783" "70" "1217" "0" "1217" "0" "c.1217T>C" "r.(?)" "p.(Met406Thr)" ""
"0000694929" "00014783" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Ser108Asn)" ""
"0000694930" "00014783" "70" "323" "0" "323" "0" "c.323G>A" "r.(?)" "p.(Ser108Asn)" ""
"0000694931" "00014783" "70" "237" "0" "237" "0" "c.237G>C" "r.(?)" "p.(Gln79His)" ""
"0000694932" "00014783" "70" "237" "0" "237" "0" "c.237G>C" "r.(?)" "p.(Gln79His)" ""
"0000694933" "00014783" "70" "289" "0" "289" "0" "c.289C>T" "r.(?)" "p.(His97Tyr)" ""
"0000694934" "00014783" "70" "1198" "0" "1198" "0" "c.1198G>T" "r.(?)" "p.(Glu400*)" ""
"0000694935" "00014783" "70" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Glu342Lys)" ""
"0000695597" "00014783" "50" "883" "0" "883" "0" "c.883T>C" "r.(?)" "p.(Phe295Leu)" ""
"0000697192" "00014783" "90" "602" "0" "602" "0" "c.602C>A" "r.(?)" "p.(Ser201*)" ""
"0000697200" "00014783" "50" "253" "0" "253" "0" "c.253G>T" "r.(?)" "p.(Glu85*)" ""
"0000698032" "00014783" "70" "366" "0" "366" "0" "c.366C>G" "r.(?)" "p.(Cys122Trp)" ""
"0000704550" "00014783" "70" "1168" "0" "1170" "0" "c.1168_1170del" "r.(?)" "p.(Phe390del)" "3"
"0000720539" "00014783" "90" "603" "0" "606" "0" "c.603_606del" "r.(?)" "p.(Arg202Thrfs*154)" ""
"0000720540" "00014783" "50" "1147" "0" "1149" "0" "c.1147_1149del" "r.(?)" "p.(Ser383del)" ""
"0000720541" "00014783" "70" "1184" "0" "1184" "0" "c.1184G>A" "r.(?)" "p.(Gly395Asp)" ""
"0000759728" "00014783" "90" "854" "0" "854" "0" "c.854C>A" "r.(?)" "p.(Ser285*)" "2"
"0000759729" "00014783" "70" "965" "0" "965" "0" "c.965T>A" "r.(?)" "p.(Leu322His)" "2"
"0000760930" "00014783" "70" "192" "0" "192" "0" "c.192del" "r.(?)" "p.(Gly65Alafs*54)" ""
"0000789674" "00014783" "70" "368" "0" "368" "0" "c.368G>T" "r.(?)" "p.(Arg123Leu)" ""
"0000794207" "00014783" "70" "51" "0" "69" "0" "c.51_69dup" "r.(?)" "p.(Asn24Glyfs*379)" ""
"0000802232" "00014783" "50" "323" "0" "323" "0" "c.323G>C" "r.(?)" "p.(Ser108Thr)" ""
"0000802233" "00014783" "90" "513" "0" "513" "0" "c.513C>A" "r.(?)" "p.(Tyr171Ter)" ""
"0000802234" "00014783" "90" "535" "0" "535" "0" "c.535dup" "r.(?)" "p.(Leu179Profs*218)" ""
"0000802235" "00014783" "50" "581" "0" "581" "0" "c.581G>T" "r.(?)" "p.(Arg194Leu)" ""
"0000802236" "00014783" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Glu342Lys)" ""
"0000813829" "00014783" "90" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Gly105Asp)" ""
"0000850998" "00014783" "30" "1014" "0" "1014" "0" "c.1014G>A" "r.(?)" "p.(Ala338=)" ""
"0000860035" "00014783" "50" "408" "0" "408" "0" "c.408C>A" "r.(?)" "p.(Asn136Lys)" ""
"0000871049" "00014783" "90" "513" "0" "513" "0" "c.513C>G" "r.(?)" "p.(Tyr171*)" ""
"0000871050" "00014783" "90" "91" "0" "93" "0" "c.91_93dup" "r.(?)" "p.(Arg31dup)" ""
"0000871051" "00014783" "90" "1080" "0" "1080" "0" "c.1080C>A" "r.(?)" "p.(Tyr360*)" ""
"0000897420" "00014783" "70" "262" "0" "262" "0" "c.262G>T" "r.(?)" "p.(Val88Leu)" ""
"0000924393" "00014783" "70" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Lys107Glu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 89
"{{screeningid}}" "{{variantid}}"
"0000039641" "0000067255"
"0000039652" "0000067281"
"0000044052" "0000071858"
"0000044053" "0000071859"
"0000044054" "0000071860"
"0000044055" "0000071861"
"0000044056" "0000071862"
"0000104341" "0000170832"
"0000265015" "0000595596"
"0000297965" "0000660673"
"0000311181" "0000686484"
"0000311196" "0000686518"
"0000311204" "0000686573"
"0000311246" "0000686580"
"0000311350" "0000686718"
"0000311352" "0000686721"
"0000311355" "0000686729"
"0000311523" "0000686954"
"0000311754" "0000687259"
"0000311755" "0000687260"
"0000312176" "0000687730"
"0000312179" "0000687732"
"0000312194" "0000687750"
"0000312195" "0000687752"
"0000312196" "0000687753"
"0000312197" "0000687754"
"0000312198" "0000687755"
"0000312199" "0000687756"
"0000312213" "0000687773"
"0000312215" "0000687776"
"0000312216" "0000687777"
"0000312217" "0000687778"
"0000312218" "0000687779"
"0000312219" "0000687780"
"0000312229" "0000693793"
"0000312230" "0000693794"
"0000312231" "0000693795"
"0000312232" "0000693796"
"0000312240" "0000693797"
"0000312241" "0000693798"
"0000312242" "0000693799"
"0000312243" "0000693800"
"0000312244" "0000693801"
"0000312327" "0000693911"
"0000312330" "0000693914"
"0000312331" "0000693915"
"0000312332" "0000693916"
"0000312333" "0000693917"
"0000312334" "0000693918"
"0000312335" "0000693919"
"0000312518" "0000694104"
"0000312519" "0000694105"
"0000312520" "0000694106"
"0000312521" "0000694107"
"0000312522" "0000694108"
"0000312523" "0000694109"
"0000312524" "0000694110"
"0000312525" "0000694111"
"0000312526" "0000694115"
"0000312528" "0000694116"
"0000312529" "0000694117"
"0000312531" "0000694118"
"0000312532" "0000694120"
"0000312534" "0000694121"
"0000312535" "0000694123"
"0000312536" "0000694124"
"0000312537" "0000694125"
"0000312538" "0000694126"
"0000313195" "0000694929"
"0000313196" "0000694930"
"0000313197" "0000694931"
"0000313198" "0000694932"
"0000313199" "0000694933"
"0000313200" "0000694934"
"0000313201" "0000694935"
"0000313698" "0000695597"
"0000315117" "0000697192"
"0000315124" "0000697200"
"0000315925" "0000698032"
"0000321631" "0000704550"
"0000360050" "0000759728"
"0000360051" "0000759729"
"0000360827" "0000760930"
"0000377356" "0000789674"
"0000380958" "0000794207"
"0000386348" "0000813829"
"0000413542" "0000871049"
"0000413543" "0000871050"
"0000413544" "0000871051"