### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA2022)
# 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}}"
"KIAA2022" "KIAA2022" "X" "q13.3" "unknown" "NC_000023.10" "UD_132118915239" "" "https://www.LOVD.nl/NEXMIF" "" "1" "29433" "340533" "300524" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
NOTE: gene symbol was recently changed from KIAA2022 to NEXMIF.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "NOTE: gene symbol was recently changed from KIAA2022 to NEXMIF." "-1" "" "-1" "00000" "2009-11-10 14:59:38" "00006" "2018-08-01 11:01:14" "00006" "2025-11-13 13:04:16"
## 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}}"
"00001338" "KIAA2022" "KIAA2022" "001" "NM_001008537.2" "" "NP_001008537.1" "" "" "" "-617" "11100" "4551" "73952691" "74145287" "00000" "2012-09-13 13:27:18" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{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"
"00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"02203" "XLID98;MRX98" "intellectual developmental disorder, X-linked, type 98 (MRX98)" "XLD" "300912" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-03-12 15:28:19"
"04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59"
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
"06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"KIAA2022" "02203"
## Individuals ## Do not remove or alter this header ##
## Count = 34
"{{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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00134049" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" ""
"00164432" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" ""
"00172315" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00172316" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00172317" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00172318" "" "" "" "2" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00172319" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?"
"00183157" "" "" "" "2" "" "00006" "{PMID:Hu 2016:25644381}" "family, 2 affected, 4 unaffected heterozygous carrier females" "M" "" "" "" "0" "" "" "" "25644381-FamN186"
"00269519" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "0" "" "" "" ""
"00269605" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00289294" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00295093" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00299439" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00305317" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305986" "" "" "" "1" "" "00006" "{PMID:Johannesen 2020:32427350}" "2-generation family, 1 affected, unaffected parents" "F" "" "Denmark" "" "0" "" "" "" "Pat17"
"00314883" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "Israel" "" "0" "" "" "" "Trio54"
"00374355" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1375"
"00392041" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "212P"
"00419213" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "207046"
"00419223" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "207225"
"00419588" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20022"
"00438663" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0520"
"00448480" "" "" "" "1" "" "04614" "" "" "M" "no" "Spain" "" "" "" "" "" ""
"00448670" "" "" "" "1" "" "04614" "" "" "M" "no" "Spain" "" "" "" "" "" ""
"00449748" "" "" "" "1" "" "03544" "" "" "F" "" "- (not applicable)" "" "" "" "" "white" ""
"00455805" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "F" "" "" "" "0" "" "" "" "Pat45"
"00458265" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" ""
"00466228" "" "" "" "1" "" "01164" "" "" "F" "no" "Croatia (Hrvatska)" "" "0" "" "" "" "18436"
"00467280" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "family, 1 affected" "" "" "United States" "" "0" "" "" "" "CMH146"
"00469029" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469030" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469031" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 33
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00134049" "00198"
"00164432" "00198"
"00172315" "00187"
"00172316" "00187"
"00172317" "00187"
"00172318" "00187"
"00172319" "00187"
"00183157" "00187"
"00269519" "00344"
"00289294" "00198"
"00295093" "00198"
"00299439" "00198"
"00305317" "00198"
"00305986" "04270"
"00314883" "00198"
"00374355" "00198"
"00392041" "02203"
"00419213" "02203"
"00419223" "02203"
"00419588" "00198"
"00438663" "06906"
"00448480" "00139"
"00448670" "02203"
"00449748" "00139"
"00455805" "00198"
"00458265" "05611"
"00466228" "02203"
"00467280" "00198"
"00469029" "00198"
"00469030" "00198"
"00469031" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00344, 01157, 02203, 04270, 05611, 06906
## Count = 31
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000106807" "00198" "00134049" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Motor delay (HP:0001270); Stereotypy (HP:0000733)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000129491" "00198" "00164432" "01807" "Unknown" "" "Intellectual disability, severe (HP:0010864); Generalized-onset seizure (HP:0002197); Developmental regression (HP:0002376); Spastic tetraplegia (HP:0002510)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000137179" "00187" "00172315" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000137180" "00187" "00172316" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000137181" "00187" "00172317" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000137182" "00187" "00172318" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000137183" "00187" "00172319" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" ""
"0000143911" "00187" "00183157" "00006" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "mental retardation" ""
"0000207350" "00344" "00269519" "03512" "Isolated (sporadic)" "" "Epileptic Encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000207409" "00198" "00269605" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Generalized seizures (HP:0002197)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000222925" "00198" "00289294" "01164" "Unknown" "" "Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Obesity (HP:0001513); Increased body weight (HP:0004324); Behavioral abnormality (HP:0000708); Autistic behavior (HP:0000729)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000226749" "00198" "00299439" "01164" "Unknown" "" "Seizures (HP:0001250); Abnormality of nervous system physiology (HP:0012638)" "" "" "" "" "" "" "" "" "" "" "" ""
"0000231832" "04270" "00305986" "00006" "Unknown" "22y" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ""
"0000238641" "00198" "00314883" "00006" "Unknown" "4y" "Myoclonic epileptic encephalopathy, coarse features, hypothyroidism, ataxia, mild hypotonia, acquired microcephaly, intellectual disability." "6m" "" "" "" "" "" "" "" "" "" "" ""
"0000269565" "00198" "00374355" "00006" "Familial, X-linked" "" "Features suggestive of Rett syndrome" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" ""
"0000310500" "02203" "00419213" "01164" "Unknown" "16y" "Intellectual disability, Depression, Behavioral abnormality, Nevus flammeus, Focal impaired awareness seizure" "" "" "" "" "" "" "" "" "" "" "" ""
"0000310510" "02203" "00419223" "01164" "Isolated (sporadic)" "" "Global developmental delay, Delayed gross motor development, Hypotonia, Cerebral calcification, Behavioral abnormality" "" "" "" "" "" "" "" "" "" "" "1y" ""
"0000310869" "00198" "00419588" "02300" "Isolated (sporadic)" "3y" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental abnormality" ""
"0000328566" "06906" "00438663" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" ""
"0000337668" "00139" "00448480" "04614" "Isolated (sporadic)" "01y" "HPO: HP:0002104 Apnea, HP:0000028, Cryptorchidism, HP:0001263 Global developmental delay, HP:0001252 Hypotonia, HP:0000252 Microcephaly, HP:0001270 Motor delay." "00y00m00d" "" "01y06m" "Congenital onset" "" "" "" "" "" "Intellectual developmental disorder, X-linked 98 (#300912,XLD)" "delayed psychomotor development" ""
"0000337848" "02203" "00448670" "04614" "Isolated (sporadic)" "01y" "HP:0002104Apnea\r\nHP:0000028 Cryptorchidism\r\nHP:0001263 Global developmental delay\r\nHP:0001252 Hypotonia\r\nHP:0000252 Microcephaly\r\nHP:0001270 Motor delay\r\nGastroesophageal reflux HP:0002020" "00y03m" "" "01y08m" "Congenital onset" "" "" "" "" "" "ntellectual developmental disorder, X-linked 98" "Global development Delay" ""
"0000338909" "00139" "00449748" "03544" "Isolated (sporadic)" "" "HP:0001250, HP:0002123, HP:0010819, HP:0002342, HP:0001007, HP:0001513, HP:0000168" "" "" "" "" "" "" "" "" "" "XLID98" "intellectual disability" ""
"0000344338" "00198" "00455805" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "XLID98" "neurogenetic diseases" ""
"0000346702" "05611" "00458265" "03544" "Isolated (sporadic)" "" "HP:0007018, HP:0002487, HP:0010864, HP:0000750, HP:0032794, HP:0000708" "" "" "" "" "" "" "" "" "" "XLID98" "complex neurodevelopmental disorder" ""
"0000351610" "02203" "00466228" "01164" "Isolated (sporadic)" "29y" "Delayed psychomotor development, mild to severe, Mental retardation, Poor or absent speech acquisition, Generalized seizures, EEG abnormalities" "" "" "" "" "" "" "" "" "" "" "" ""
"0000352487" "00198" "00467280" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "iintellectual disability" ""
"0000354182" "00198" "00469029" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" ""
"0000354183" "00198" "00469030" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the mitochondrion" ""
"0000354184" "00198" "00469031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" ""
## Screenings ## Do not remove or alter this header ##
## Count = 34
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000134889" "00134049" "0" "01807" "01807" "2017-11-23 20:06:03" "" "" "SEQ" "DNA" "" ""
"0000165299" "00164432" "1" "01807" "01807" "2018-05-17 16:07:13" "" "" "SEQ" "DNA" "" ""
"0000173198" "00172315" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" ""
"0000173199" "00172316" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" ""
"0000173200" "00172317" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" ""
"0000173201" "00172318" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" ""
"0000173202" "00172319" "1" "00124" "00006" "2009-11-10 15:10:19" "00006" "2010-10-24 20:36:56" "SEQ" "DNA" "" ""
"0000184115" "00183157" "1" "00006" "00006" "2018-10-14 12:07:53" "" "" "SEQ;SEQ-NG" "DNA" "" "WES-X chromosome"
"0000270673" "00269519" "1" "03512" "03512" "2019-11-29 10:30:37" "" "" "SEQ-NG-I" "DNA" "" ""
"0000270761" "00269605" "1" "01164" "01164" "2019-12-03 10:07:54" "" "" "SEQ-NG-S" "DNA" "" ""
"0000290464" "00289294" "1" "01164" "01164" "2020-03-02 12:26:54" "" "" "SEQ-NG-S" "DNA" "" ""
"0000296261" "00295093" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000300549" "00299439" "1" "01164" "01164" "2020-04-16 09:56:02" "" "" "SEQ-NG-S" "DNA" "" ""
"0000306446" "00305317" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000307116" "00305986" "1" "00006" "00006" "2020-07-06 16:08:38" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate gene panel"
"0000316057" "00314883" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000375549" "00374355" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000393283" "00392041" "1" "02494" "02494" "2021-11-19 17:48:45" "" "" "SEQ-NG" "DNA" "" "WES"
"0000420516" "00419213" "1" "01164" "01164" "2022-10-18 14:47:44" "" "" "SEQ-NG-I" "DNA" "" "KIAA2022 changed to NEXMIF"
"0000420527" "00419223" "1" "01164" "01164" "2022-10-19 12:29:59" "" "" "SEQ-NG-I" "DNA" "" "NEXMIF = KIAA2022"
"0000420892" "00419588" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000440145" "00438663" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000450059" "00448480" "1" "04614" "04614" "2024-03-12 09:28:11" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000450261" "00448670" "1" "04614" "04614" "2024-04-10 12:47:15" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000451344" "00449748" "1" "03544" "03544" "2024-05-10 10:31:45" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES"
"0000457421" "00455805" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000459887" "00458265" "1" "03544" "03544" "2024-12-12 08:27:15" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES"
"0000467884" "00466228" "1" "01164" "01164" "2025-08-12 12:27:09" "" "" "SEQ-NG-I" "DNA" "Blood" "NEXMIF-gene (formerly KIAA2022)"
"0000468943" "00467280" "1" "00006" "00006" "2025-10-10 16:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470697" "00469029" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470698" "00469030" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470699" "00469031" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{geneid}}"
"0000173198" "KIAA2022"
"0000173199" "KIAA2022"
"0000173200" "KIAA2022"
"0000173201" "KIAA2022"
"0000173202" "KIAA2022"
"0000184115" "KIAA2022"
"0000307116" "KIAA2022"
"0000316057" "KIAA2022"
"0000375549" "KIAA2022"
"0000420516" "KIAA2022"
"0000420527" "KIAA2022"
"0000467884" "KIAA2022"
## 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 = 134
"{{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}}"
"0000007182" "20" "50" "X" "73958629" "73958629" "subst" "0" "00037" "KIAA2022_000001" "g.73958629G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.74738794G>A" "" "VUS" ""
"0000009276" "20" "50" "X" "73958629" "73958629" "subst" "0" "00037" "KIAA2022_000001" "g.73958629G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.74738794G>A" "" "VUS" ""
"0000225083" "3" "90" "X" "73962459" "73962459" "subst" "0" "01807" "KIAA2022_000002" "g.73962459C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.74742624C>A" "" "pathogenic" ""
"0000249743" "0" "50" "X" "73960436" "73960436" "subst" "0" "02325" "KIAA2022_000004" "g.73960436A>T" "" "" "" "NEXMIF(NM_001008537.3):c.3956T>A (p.I1319N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740601A>T" "" "VUS" ""
"0000254551" "0" "30" "X" "73963055" "73963055" "subst" "5.61842E-6" "01943" "KIAA2022_000016" "g.73963055A>G" "" "" "" "KIAA2022(NM_001008537.2):c.1337T>C (p.I446T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74743220A>G" "" "likely benign" ""
"0000281787" "0" "30" "X" "73960146" "73960146" "subst" "0.00426217" "02325" "KIAA2022_000003" "g.73960146G>A" "" "" "" "KIAA2022(NM_001008537.2):c.4246C>T (p.P1416S), NEXMIF(NM_001008537.3):c.4246C>T (p.P1416S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740311G>A" "" "likely benign" ""
"0000285790" "0" "90" "X" "73964056" "73964056" "subst" "0" "02326" "KIAA2022_000020" "g.73964056C>T" "" "" "" "NEXMIF(NM_001008537.3):c.336G>A (p.W112*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74744221C>T" "" "pathogenic" ""
"0000285791" "0" "10" "X" "73960146" "73960146" "subst" "0.00426217" "02326" "KIAA2022_000003" "g.73960146G>A" "" "" "" "KIAA2022(NM_001008537.2):c.4246C>T (p.P1416S), NEXMIF(NM_001008537.3):c.4246C>T (p.P1416S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740311G>A" "" "benign" ""
"0000285792" "0" "90" "X" "73963954" "73963954" "subst" "0" "02326" "KIAA2022_000019" "g.73963954G>T" "" "" "" "NEXMIF(NM_001008537.3):c.438C>A (p.C146*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74744119G>T" "" "pathogenic" ""
"0000290241" "0" "50" "X" "73963349" "73963349" "subst" "0" "01943" "KIAA2022_000017" "g.73963349C>T" "" "" "" "KIAA2022(NM_001008537.2):c.1043G>A (p.R348Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74743514C>T" "" "VUS" ""
"0000290242" "0" "90" "X" "73962690" "73962691" "del" "0" "01943" "KIAA2022_000015" "g.73962690_73962691del" "" "" "" "KIAA2022(NM_001008537.2):c.1701_1702delAG (p.V568Efs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742855_74742856del" "" "pathogenic" ""
"0000290243" "0" "30" "X" "73962294" "73962294" "subst" "0.000417407" "01943" "KIAA2022_000013" "g.73962294C>G" "" "" "" "KIAA2022(NM_001008537.2):c.2098G>C (p.V700L), NEXMIF(NM_001008537.3):c.2098G>C (p.V700L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742459C>G" "" "likely benign" ""
"0000290244" "0" "30" "X" "73962077" "73962077" "subst" "8.9664E-5" "01943" "KIAA2022_000012" "g.73962077C>T" "" "" "" "KIAA2022(NM_001008537.2):c.2315G>A (p.R772H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742242C>T" "" "likely benign" ""
"0000290245" "0" "50" "X" "73961274" "73961274" "subst" "0" "01943" "KIAA2022_000008" "g.73961274T>C" "" "" "" "KIAA2022(NM_001008537.2):c.3118A>G (p.I1040V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74741439T>C" "" "VUS" ""
"0000290246" "0" "90" "X" "73960740" "73960740" "subst" "0" "01943" "KIAA2022_000007" "g.73960740G>A" "" "" "" "KIAA2022(NM_001008537.2):c.3652C>T (p.Q1218*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740905G>A" "" "pathogenic" ""
"0000290247" "0" "50" "X" "73960734" "73960734" "subst" "0" "01943" "KIAA2022_000006" "g.73960734G>A" "" "" "" "KIAA2022(NM_001008537.2):c.3658C>T (p.P1220S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740899G>A" "" "VUS" ""
"0000290248" "0" "30" "X" "73960146" "73960146" "subst" "0.00426217" "01943" "KIAA2022_000003" "g.73960146G>A" "" "" "" "KIAA2022(NM_001008537.2):c.4246C>T (p.P1416S), NEXMIF(NM_001008537.3):c.4246C>T (p.P1416S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740311G>A" "" "likely benign" ""
"0000334674" "0" "50" "X" "73960580" "73960580" "subst" "7.87118E-5" "01804" "KIAA2022_000005" "g.73960580A>G" "" "" "" "KIAA2022(NM_001008537.2):c.3812T>C (p.(Met1271Thr)), NEXMIF(NM_001008537.2):c.3812T>C (p.M1271T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740745A>G" "" "VUS" ""
"0000334675" "0" "30" "X" "73961591" "73961591" "subst" "0.0120085" "01804" "KIAA2022_000009" "g.73961591T>C" "" "" "" "KIAA2022(NM_001008537.2):c.2801A>G (p.(Asn934Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74741756T>C" "" "likely benign" ""
"0000334676" "0" "50" "X" "73961640" "73961640" "subst" "4.48697E-5" "01804" "KIAA2022_000010" "g.73961640C>A" "" "" "" "KIAA2022(NM_001008537.2):c.2752G>T (p.(Ala918Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74741805C>A" "" "VUS" ""
"0000334678" "0" "50" "X" "73962408" "73962408" "subst" "1.15929E-5" "01804" "KIAA2022_000014" "g.73962408C>T" "" "" "" "KIAA2022(NM_001008537.2):c.1984G>A (p.(Ala662Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742573C>T" "" "VUS" ""
"0000334679" "0" "50" "X" "73963908" "73963908" "subst" "0" "01804" "KIAA2022_000018" "g.73963908C>G" "" "" "" "KIAA2022(NM_001008537.2):c.484G>C (p.(Gly162Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74744073C>G" "" "VUS" ""
"0000343186" "0" "50" "X" "73962515" "73962515" "subst" "1.13645E-5" "02327" "KIAA2022_000032" "g.73962515C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742680C>T" "" "VUS" ""
"0000343188" "0" "30" "X" "73962509" "73962509" "subst" "0" "02327" "KIAA2022_000031" "g.73962509C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742674C>A" "" "likely benign" ""
"0000343817" "0" "90" "X" "73962319" "73962319" "del" "0" "02327" "KIAA2022_000029" "g.73962319del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742484del" "" "pathogenic" ""
"0000343885" "0" "50" "X" "73960965" "73960965" "subst" "0" "02327" "KIAA2022_000025" "g.73960965C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74741130C>G" "" "VUS" ""
"0000344926" "0" "70" "X" "73962438" "73962438" "subst" "0" "02327" "KIAA2022_000030" "g.73962438G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74742603G>A" "" "likely pathogenic" ""
"0000345306" "0" "90" "X" "73963608" "73963608" "subst" "0" "02327" "KIAA2022_000033" "g.73963608C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74743773C>A" "" "pathogenic" ""
"0000345587" "0" "90" "X" "73961685" "73961685" "subst" "0" "02327" "KIAA2022_000027" "g.73961685C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74741850C>A" "" "pathogenic" ""
"0000347417" "0" "50" "X" "73960029" "73960029" "subst" "0" "02327" "KIAA2022_000022" "g.73960029T>G" "" "" "" "NEXMIF(NM_001008537.2):c.4363A>C (p.K1455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740194T>G" "" "VUS" ""
"0000347746" "0" "50" "X" "73960359" "73960359" "subst" "0" "02327" "KIAA2022_000023" "g.73960359T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74740524T>C" "" "VUS" ""
"0000349230" "0" "90" "X" "73961408" "73961408" "subst" "0" "02327" "KIAA2022_000026" "g.73961408G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74741573G>T" "" "pathogenic" ""
"0000368958" "0" "90" "X" "73962431" "73962431" "subst" "0" "01807" "KIAA2022_000034" "g.73962431G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.74742596G>T" "" "pathogenic" ""
"0000393055" "1" "50" "X" "73964259" "73964259" "subst" "0.000279988" "00124" "KIAA2022_000037" "g.73964259C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "A45T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.74744424C>T" "" "VUS" ""
"0000393056" "1" "50" "X" "73964186" "73964186" "subst" "5.63063E-6" "00124" "KIAA2022_000036" "g.73964186G>C" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S69C" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.74744351G>C" "" "VUS" ""
"0000393057" "1" "50" "X" "73961794" "73961794" "subst" "0.0210144" "00124" "KIAA2022_000035" "g.73961794G>T" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S866S" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.74741959G>T" "" "VUS" ""
"0000393058" "1" "50" "X" "73961591" "73961591" "subst" "0.0120085" "00124" "KIAA2022_000009" "g.73961591T>C" "2/208 cases" "{PMID:Tarpey 2009:19377476}" "" "N934S" "recurrent, found 2 times" "Germline" "" "" "0" "" "" "g.74741756T>C" "" "VUS" ""
"0000393059" "1" "50" "X" "73960580" "73960580" "subst" "7.87118E-5" "00124" "KIAA2022_000005" "g.73960580A>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "M1271T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.74740745A>G" "" "VUS" ""
"0000408084" "21" "90" "X" "73960794" "73960794" "dup" "0" "00006" "KIAA2022_000038" "g.73960794dup" "" "{PMID:Hu 2016:25644381}" "" "KIAA2022 insA S1200Yfs*5" "" "Germline" "yes" "" "0" "" "" "g.74740959dup" "" "pathogenic" ""
"0000577432" "0" "30" "X" "73959244" "73959244" "subst" "0" "01943" "KIAA2022_000039" "g.73959244A>G" "" "" "" "KIAA2022(NM_001008537.2):c.4547T>C (p.I1516T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74739409A>G" "" "likely benign" ""
"0000577434" "0" "30" "X" "73960187" "73960187" "subst" "0.000140079" "02326" "KIAA2022_000040" "g.73960187T>C" "" "" "" "NEXMIF(NM_001008537.3):c.4205A>G (p.N1402S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740352T>C" "" "likely benign" ""
"0000577435" "0" "30" "X" "73960239" "73960239" "subst" "0" "01943" "KIAA2022_000041" "g.73960239A>C" "" "" "" "KIAA2022(NM_001008537.2):c.4153T>G (p.S1385A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740404A>C" "" "likely benign" ""
"0000577437" "0" "30" "X" "73960569" "73960569" "subst" "0.000263993" "01943" "KIAA2022_000043" "g.73960569T>C" "" "" "" "KIAA2022(NM_001008537.2):c.3823A>G (p.S1275G), NEXMIF(NM_001008537.3):c.3823A>G (p.S1275G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740734T>C" "" "likely benign" ""
"0000577439" "0" "30" "X" "73961170" "73961170" "subst" "3.36052E-5" "02326" "KIAA2022_000045" "g.73961170C>T" "" "" "" "NEXMIF(NM_001008537.2):c.3222G>A (p.P1074=), NEXMIF(NM_001008537.3):c.3222G>A (p.P1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74741335C>T" "" "likely benign" ""
"0000577440" "0" "30" "X" "73961338" "73961338" "subst" "8.41331E-5" "01943" "KIAA2022_000046" "g.73961338G>A" "" "" "" "KIAA2022(NM_001008537.2):c.3054C>T (p.G1018=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74741503G>A" "" "likely benign" ""
"0000577441" "0" "50" "X" "73961427" "73961427" "subst" "0" "02327" "KIAA2022_000047" "g.73961427G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74741592G>A" "" "VUS" ""
"0000577442" "0" "30" "X" "73961503" "73961503" "subst" "5.59785E-6" "01943" "KIAA2022_000048" "g.73961503A>G" "" "" "" "KIAA2022(NM_001008537.2):c.2889T>C (p.S963=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74741668A>G" "" "likely benign" ""
"0000577443" "0" "30" "X" "73961847" "73961847" "subst" "2.80252E-5" "01943" "KIAA2022_000049" "g.73961847C>T" "" "" "" "KIAA2022(NM_001008537.2):c.2545G>A (p.E849K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74742012C>T" "" "likely benign" ""
"0000577444" "0" "30" "X" "73962552" "73962552" "subst" "0" "01943" "KIAA2022_000050" "g.73962552G>A" "" "" "" "KIAA2022(NM_001008537.2):c.1840C>T (p.P614S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74742717G>A" "" "likely benign" ""
"0000577445" "0" "30" "X" "73963107" "73963107" "subst" "5.61284E-6" "01943" "KIAA2022_000051" "g.73963107G>C" "" "" "" "KIAA2022(NM_001008537.2):c.1285C>G (p.L429V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74743272G>C" "" "likely benign" ""
"0000577446" "0" "90" "X" "73963116" "73963116" "subst" "0" "02327" "KIAA2022_000052" "g.73963116G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74743281G>A" "" "pathogenic" ""
"0000577447" "0" "30" "X" "73963267" "73963267" "subst" "0" "01943" "KIAA2022_000053" "g.73963267C>T" "" "" "" "KIAA2022(NM_001008537.2):c.1125G>A (p.E375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74743432C>T" "" "likely benign" ""
"0000577448" "0" "70" "X" "73963350" "73963350" "subst" "0" "02327" "KIAA2022_000054" "g.73963350G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74743515G>A" "" "likely pathogenic" ""
"0000577449" "0" "30" "X" "73963371" "73963371" "subst" "1.68755E-5" "02326" "KIAA2022_000055" "g.73963371C>T" "" "" "" "NEXMIF(NM_001008537.3):c.1021G>A (p.V341I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74743536C>T" "" "likely benign" ""
"0000577450" "0" "30" "X" "73963433" "73963433" "subst" "5.6112E-6" "02327" "KIAA2022_000056" "g.73963433T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74743598T>C" "" "likely benign" ""
"0000577452" "0" "30" "X" "73964259" "73964259" "subst" "0.000279988" "02326" "KIAA2022_000037" "g.73964259C>T" "" "" "" "NEXMIF(NM_001008537.3):c.133G>A (p.A45T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74744424C>T" "" "likely benign" ""
"0000604454" "0" "70" "X" "73962680" "73962683" "del" "0" "03512" "KIAA2022_000058" "g.73962680_73962683del" "" "{PMID:Minardi 2020:32725632}" "" "" "" "De novo" "" "" "0" "" "" "g.74742845_74742848del" "" "pathogenic (dominant)" ""
"0000604586" "0" "90" "X" "73963428" "73963428" "subst" "0" "01164" "KIAA2022_000059" "g.73963428G>A" "" "" "" "" "ACMG grading: PVS1,PS2,PM2; variant reported in de Lange 2016. J Med Genet 12: 850; Farach 2016. Am J Med Genet 3: 703" "Germline" "" "" "0" "" "" "g.74743593G>A" "" "pathogenic" "ACMG"
"0000619882" "0" "70" "X" "73960305" "73960305" "subst" "0" "02327" "KIAA2022_000061" "g.73960305T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740470T>A" "" "likely pathogenic" ""
"0000619883" "0" "30" "X" "73960569" "73960569" "subst" "0.000263993" "02326" "KIAA2022_000043" "g.73960569T>C" "" "" "" "KIAA2022(NM_001008537.2):c.3823A>G (p.S1275G), NEXMIF(NM_001008537.3):c.3823A>G (p.S1275G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740734T>C" "" "likely benign" ""
"0000619884" "0" "90" "X" "73961087" "73961087" "dup" "0" "02327" "KIAA2022_000063" "g.73961087dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74741252dup" "" "pathogenic" ""
"0000619885" "0" "30" "X" "73961545" "73961545" "subst" "1.11941E-5" "01943" "KIAA2022_000064" "g.73961545C>T" "" "" "" "KIAA2022(NM_001008537.2):c.2847G>A (p.L949=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74741710C>T" "" "likely benign" ""
"0000619886" "0" "30" "X" "73962253" "73962253" "subst" "0.000871943" "02326" "KIAA2022_000065" "g.73962253C>T" "" "" "" "NEXMIF(NM_001008537.3):c.2139G>A (p.E713=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74742418C>T" "" "likely benign" ""
"0000619887" "0" "90" "X" "73963740" "73963740" "subst" "0" "01943" "KIAA2022_000066" "g.73963740G>A" "" "" "" "NEXMIF(NM_001008537.2):c.652C>T (p.R218*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74743905G>A" "" "pathogenic" ""
"0000624719" "0" "30" "X" "73960135" "73960135" "subst" "2.80458E-5" "01943" "KIAA2022_000060" "g.73960135G>A" "" "" "" "NEXMIF(NM_001008537.2):c.4257C>T (p.N1419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740300G>A" "" "likely benign" ""
"0000624720" "0" "30" "X" "73960344" "73960344" "subst" "0.000146153" "01943" "KIAA2022_000062" "g.73960344C>T" "" "" "" "NEXMIF(NM_001008537.2):c.4048G>A (p.D1350N), NEXMIF(NM_001008537.3):c.4048G>A (p.D1350N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740509C>T" "" "likely benign" ""
"0000647133" "0" "70" "X" "73961250" "73961250" "subst" "0" "01164" "KIAA2022_000067" "g.73961250C>A" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "" "0" "" "" "g.74741415C>A" "" "likely pathogenic" "ACMG"
"0000652950" "1" "10" "X" "73963537" "73963537" "subst" "0.00565824" "03575" "KIAA2022_000068" "g.73963537T>C" "6/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous; {DB:CLININrs3762242}" "Germline" "" "rs3762242" "0" "" "" "g.74743702T>C" "" "benign" ""
"0000659447" "0" "30" "X" "73959970" "73959970" "subst" "0.000162646" "02326" "KIAA2022_000069" "g.73959970C>T" "" "" "" "NEXMIF(NM_001008537.2):c.4422G>A (p.K1474=), NEXMIF(NM_001008537.3):c.4422G>A (p.K1474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74740135C>T" "" "likely benign" ""
"0000659448" "0" "30" "X" "73961069" "73961069" "subst" "1.67977E-5" "01943" "KIAA2022_000070" "g.73961069C>T" "" "" "" "NEXMIF(NM_001008537.2):c.3323G>A (p.S1108N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74741234C>T" "" "likely benign" ""
"0000663261" "0" "70" "X" "73962108" "73962108" "del" "0" "01164" "KIAA2022_000071" "g.73962108del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74742273del" "" "likely pathogenic" ""
"0000670134" "0" "10" "X" "73963537" "73963537" "subst" "0.00565824" "03575" "KIAA2022_000068" "g.73963537T>C" "8/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs3762242}" "Germline" "" "rs3762242" "0" "" "" "g.74743702T>C" "" "benign" ""
"0000673681" "0" "70" "X" "73961831" "73961832" "dup" "0" "00006" "KIAA2022_000072" "g.73961831_73961832dup" "" "{PMID:Johannesen 2020:32427350}" "" "2562_2563dupCC" "ACMG PVS1, PM2,; mother not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.74741996_74741997dup" "" "likely pathogenic" "ACMG"
"0000682636" "0" "30" "X" "73960072" "73960072" "subst" "7.84186E-5" "01943" "KIAA2022_000073" "g.73960072G>A" "" "" "" "NEXMIF(NM_001008537.2):c.4320C>T (p.N1440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682637" "0" "30" "X" "73960580" "73960580" "subst" "7.87118E-5" "01943" "KIAA2022_000005" "g.73960580A>G" "" "" "" "KIAA2022(NM_001008537.2):c.3812T>C (p.(Met1271Thr)), NEXMIF(NM_001008537.2):c.3812T>C (p.M1271T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000682638" "0" "30" "X" "73964045" "73964045" "subst" "5.60818E-5" "01943" "KIAA2022_000074" "g.73964045T>C" "" "" "" "NEXMIF(NM_001008537.2):c.347A>G (p.N116S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693738" "0" "30" "X" "73961170" "73961170" "subst" "3.36052E-5" "01943" "KIAA2022_000045" "g.73961170C>T" "" "" "" "NEXMIF(NM_001008537.2):c.3222G>A (p.P1074=), NEXMIF(NM_001008537.3):c.3222G>A (p.P1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693739" "0" "30" "X" "73962294" "73962294" "subst" "0.000417407" "02326" "KIAA2022_000013" "g.73962294C>G" "" "" "" "KIAA2022(NM_001008537.2):c.2098G>C (p.V700L), NEXMIF(NM_001008537.3):c.2098G>C (p.V700L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000698183" "0" "70" "X" "73960800" "73960800" "dup" "0" "00006" "KIAA2022_000075" "g.73960800dup" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.74740965dup" "" "likely pathogenic (dominant)" ""
"0000729180" "0" "50" "X" "73959283" "73959283" "subst" "0" "02325" "KIAA2022_000076" "g.73959283G>A" "" "" "" "NEXMIF(NM_001008537.3):c.4508C>T (p.(Pro1503Leu), p.P1503L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000729181" "0" "30" "X" "73959970" "73959970" "subst" "0.000162646" "01943" "KIAA2022_000069" "g.73959970C>T" "" "" "" "NEXMIF(NM_001008537.2):c.4422G>A (p.K1474=), NEXMIF(NM_001008537.3):c.4422G>A (p.K1474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000729182" "0" "50" "X" "73960029" "73960029" "subst" "0" "01943" "KIAA2022_000022" "g.73960029T>G" "" "" "" "NEXMIF(NM_001008537.2):c.4363A>C (p.K1455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000729183" "0" "50" "X" "73960715" "73960715" "subst" "0" "02329" "KIAA2022_000077" "g.73960715C>G" "" "" "" "NEXMIF(NM_001008537.2):c.3677G>C (p.G1226A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000729184" "0" "50" "X" "73960932" "73960932" "subst" "1.67931E-5" "01943" "KIAA2022_000078" "g.73960932G>T" "" "" "" "NEXMIF(NM_001008537.2):c.3460C>A (p.P1154T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000729185" "0" "30" "X" "73960951" "73960951" "subst" "0" "02329" "KIAA2022_000079" "g.73960951G>A" "" "" "" "NEXMIF(NM_001008537.3):c.3441C>T (p.V1147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000729188" "0" "30" "X" "73961073" "73961073" "subst" "6.7184E-5" "01943" "KIAA2022_000082" "g.73961073C>T" "" "" "" "NEXMIF(NM_001008537.2):c.3319G>A (p.D1107N), NEXMIF(NM_001008537.3):c.3319G>A (p.D1107N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000729190" "0" "50" "X" "73963437" "73963437" "subst" "0" "02327" "KIAA2022_000084" "g.73963437C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000786900" "0" "70" "X" "73961643" "73961643" "subst" "0" "00006" "KIAA2022_000085" "g.73961643C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.74741808C>A" "" "likely pathogenic" ""
"0000810663" "0" "30" "X" "73960648" "73960648" "subst" "0" "01943" "KIAA2022_000086" "g.73960648G>T" "" "" "" "NEXMIF(NM_001008537.2):c.3744C>A (p.T1248=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810664" "0" "30" "X" "73961356" "73961356" "subst" "0" "01943" "KIAA2022_000087" "g.73961356C>T" "" "" "" "NEXMIF(NM_001008537.2):c.3036G>A (p.K1012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810665" "0" "30" "X" "73962072" "73962072" "subst" "5.60362E-6" "01943" "KIAA2022_000088" "g.73962072A>G" "" "" "" "NEXMIF(NM_001008537.2):c.2320T>C (p.S774P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810666" "0" "30" "X" "73964186" "73964186" "subst" "8.44595E-5" "01943" "KIAA2022_000089" "g.73964186G>A" "" "" "" "NEXMIF(NM_001008537.2):c.206C>T (p.S69F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810667" "0" "30" "X" "73965458" "73965458" "subst" "0" "01943" "KIAA2022_000090" "g.73965458C>T" "" "" "" "NEXMIF(NM_001008537.2):c.28G>A (p.V10I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000824014" "0" "50" "X" "73960428" "73960428" "subst" "0" "02494" "KIAA2022_000091" "g.73960428T>C" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "VUS" ""
"0000856784" "0" "30" "X" "73959312" "73959312" "subst" "0" "01943" "KIAA2022_000092" "g.73959312T>C" "" "" "" "NEXMIF(NM_001008537.2):c.4479A>G (p.L1493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856785" "0" "30" "X" "73960039" "73960039" "subst" "0" "01943" "KIAA2022_000093" "g.73960039T>C" "" "" "" "NEXMIF(NM_001008537.2):c.4353A>G (p.K1451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856786" "0" "50" "X" "73960046" "73960046" "subst" "1.12011E-5" "01943" "KIAA2022_000094" "g.73960046C>T" "" "" "" "NEXMIF(NM_001008537.2):c.4346G>A (p.R1449H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000856787" "0" "30" "X" "73960171" "73960171" "subst" "5.60507E-6" "01943" "KIAA2022_000095" "g.73960171T>C" "" "" "" "NEXMIF(NM_001008537.2):c.4221A>G (p.I1407M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856788" "0" "50" "X" "73961135" "73961135" "subst" "0" "02325" "KIAA2022_000096" "g.73961135C>T" "" "" "" "NEXMIF(NM_001008537.3):c.3257G>A (p.C1086Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000856789" "0" "50" "X" "73963413" "73963413" "subst" "0" "02325" "KIAA2022_000097" "g.73963413G>T" "" "" "" "NEXMIF(NM_001008537.3):c.979C>A (p.L327I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000867561" "0" "30" "X" "73963864" "73963864" "subst" "1.12179E-5" "01943" "KIAA2022_000098" "g.73963864C>T" "" "" "" "NEXMIF(NM_001008537.2):c.528G>A (p.T176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000880872" "0" "90" "X" "73963428" "73963428" "subst" "0" "01164" "KIAA2022_000059" "g.73963428G>A" "" "PMID: 25900396, 27812264, 26576034, 27358180" "" "" "ACMG: PVS1, PS2, PM2_SUP" "Germline" "?" "" "" "" "" "" "VCV000438478.6" "pathogenic (dominant)" "ACMG"
"0000880884" "21" "90" "X" "73960983" "73960983" "subst" "0" "01164" "KIAA2022_000099" "g.73960983G>A" "" "" "" "" "ACMG: PVS1, PS2_MOD, PS4_SUP, PM2_SUP; confirmed de novo in trio-exome" "De novo" "-" "" "0" "" "" "" "VCV001299508.2" "pathogenic (dominant)" "ACMG"
"0000881251" "0" "90" "X" "73960983" "73960983" "subst" "0" "02300" "KIAA2022_000099" "g.73960983G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.74741148G>A" "" "pathogenic (dominant)" "ACMG"
"0000896364" "0" "30" "X" "73961073" "73961073" "subst" "6.7184E-5" "02326" "KIAA2022_000082" "g.73961073C>T" "" "" "" "NEXMIF(NM_001008537.2):c.3319G>A (p.D1107N), NEXMIF(NM_001008537.3):c.3319G>A (p.D1107N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000896365" "0" "50" "X" "73963373" "73963373" "subst" "0" "02325" "KIAA2022_000100" "g.73963373C>G" "" "" "" "NEXMIF(NM_001008537.3):c.1019G>C (p.S340T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000915764" "0" "50" "X" "73962794" "73962794" "subst" "1.12817E-5" "02325" "KIAA2022_000101" "g.73962794C>T" "" "" "" "NEXMIF(NM_001008537.3):c.1598G>A (p.R533H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000931465" "0" "90" "X" "73962951" "73962951" "subst" "0" "02327" "KIAA2022_000102" "g.73962951G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000936439" "0" "90" "X" "73961463" "73961467" "dup" "0" "00006" "KIAA2022_000103" "g.73961463_73961467dup" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001008537:c.2935_2936insTTTCC (Q979fs)" "" "De novo" "" "" "0" "" "" "g.74741628_74741632dup" "" "pathogenic" ""
"0000971689" "0" "70" "X" "73960513" "73960513" "subst" "0" "04614" "KIAA2022_000104" "g.73960513C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.74740678C>T" "" "likely pathogenic (dominant)" "ACMG"
"0000972227" "0" "70" "X" "73960513" "73960513" "subst" "0" "04614" "KIAA2022_000104" "g.73960513C>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.74740678C>T" "" "likely pathogenic (dominant)" "ACMG"
"0000984858" "0" "50" "X" "73962717" "73962717" "subst" "0" "01804" "KIAA2022_000105" "g.73962717C>T" "" "" "" "NEXMIF(NM_001008537.3):c.1675G>A (p.(Gly559Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000984859" "0" "30" "X" "73964202" "73964202" "subst" "0" "02327" "KIAA2022_000106" "g.73964202G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000985198" "0" "90" "X" "73962510" "73962510" "subst" "0" "03544" "KIAA2022_000107" "g.73962510G>A" "" "" "" "" "" "Germline" "yes" "rs786205208" "" "" "" "g.74742675G>A" "{CV:190220}" "pathogenic" "ACMG"
"0001006956" "0" "30" "X" "73960344" "73960344" "subst" "0.000146153" "02326" "KIAA2022_000062" "g.73960344C>T" "" "" "" "NEXMIF(NM_001008537.2):c.4048G>A (p.D1350N), NEXMIF(NM_001008537.3):c.4048G>A (p.D1350N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006957" "0" "50" "X" "73961130" "73961130" "subst" "0" "01804" "KIAA2022_000108" "g.73961130T>C" "" "" "" "KIAA2022(NM_001008537.2):c.3262A>G (p.(Ser1088Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006958" "0" "50" "X" "73961801" "73961801" "subst" "0" "01804" "KIAA2022_000109" "g.73961801G>A" "" "" "" "KIAA2022(NM_001008537.2):c.2591C>T (p.(Thr864Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006959" "0" "90" "X" "73961921" "73961921" "subst" "0" "02325" "KIAA2022_000110" "g.73961921A>T" "" "" "" "NEXMIF(NM_001008537.3):c.2471T>A (p.L824*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001006960" "0" "30" "X" "73962461" "73962461" "subst" "0" "01804" "KIAA2022_000111" "g.73962461A>G" "" "" "" "KIAA2022(NM_001008537.2):c.1931T>C (p.(Ile644Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006961" "0" "50" "X" "73962977" "73962977" "subst" "0" "01804" "KIAA2022_000112" "g.73962977G>A" "" "" "" "KIAA2022(NM_001008537.2):c.1415C>T (p.(Ser472Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001006962" "0" "30" "X" "73963711" "73963711" "subst" "0" "01804" "KIAA2022_000113" "g.73963711C>G" "" "" "" "KIAA2022(NM_001008537.2):c.681G>C (p.(Leu227Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006963" "0" "50" "X" "73964052" "73964052" "subst" "0" "01804" "KIAA2022_000114" "g.73964052G>T" "" "" "" "KIAA2022(NM_001008537.2):c.340C>A (p.(Leu114Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001011924" "0" "90" "X" "73962510" "73962510" "subst" "0" "00006" "KIAA2022_000107" "g.73962510G>A" "" "{PMID:Salinas 2020:33084218}" "" "" "" "Unknown" "" "" "0" "" "" "g.74742675G>A" "VCV000190220.3" "pathogenic" ""
"0001016059" "0" "30" "X" "73961201" "73961201" "subst" "2.79955E-5" "02326" "KIAA2022_000115" "g.73961201C>T" "" "" "" "NEXMIF(NM_001008537.3):c.3191G>A (p.R1064H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001016060" "0" "70" "X" "73962148" "73962148" "del" "0" "02325" "KIAA2022_000116" "g.73962148del" "" "" "" "NEXMIF(NM_001008537.3):c.2244delT (p.L749Sfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001018832" "0" "70" "X" "73961700" "73961700" "subst" "0" "03544" "KIAA2022_000117" "g.73961700G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.74741865G>A" "{CV:3387768}" "pathogenic" "ACMG"
"0001027533" "0" "50" "X" "73960990" "73960990" "subst" "9.52402E-5" "02325" "KIAA2022_000118" "g.73960990G>T" "" "" "" "NEXMIF(NM_001008537.3):c.3402C>A (p.H1134Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046880" "0" "30" "X" "73962262" "73962262" "subst" "2.81318E-5" "02326" "KIAA2022_000119" "g.73962262C>T" "" "" "" "NEXMIF(NM_001008537.3):c.2130G>A (p.K710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001047289" "0" "70" "X" "73960800" "73960800" "dup" "0" "01164" "KIAA2022_000075" "g.73960800dup" "" "PMID: 23615299, 25590979" "" "" "ACMG: PVS1-very strong,PS2-moderate,PM2-supporting, confirmed de novo" "De novo" "-" "" "0" "" "" "g.74740965dup" "VCV000088753.12" "pathogenic (dominant)" "ACMG"
"0001049037" "0" "90" "X" "73961826" "73961826" "subst" "0" "00006" "KIAA2022_000120" "g.73961826G>A" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.2566C>T" "" "De novo" "" "" "0" "" "" "g.74741991G>A" "" "pathogenic" ""
"0001057364" "0" "50" "X" "73959283" "73959283" "subst" "0" "01804" "KIAA2022_000076" "g.73959283G>A" "" "" "" "NEXMIF(NM_001008537.3):c.4508C>T (p.(Pro1503Leu), p.P1503L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001058819" "0" "90" "X" "73961973" "73961974" "delins" "0" "00006" "KIAA2022_000121" "g.73961973_73961974delinsN[19]" "" "{PMID:Retterer 2016:26633542}" "" "c.2418_2419delTAins19" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.74742138_74742139delinsN[19]" "" "pathogenic" ""
"0001058820" "0" "90" "X" "73963604" "73963604" "del" "0" "00006" "KIAA2022_000123" "g.73963604del" "" "{PMID:Retterer 2016:26633542}" "" "788delC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.74743769del" "" "pathogenic" ""
"0001058821" "0" "70" "X" "73962488" "73962488" "subst" "1.13075E-5" "00006" "KIAA2022_000122" "g.73962488C>G" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.74742653C>G" "" "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 KIAA2022
## Count = 134
"{{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}}"
"0000007182" "00001338" "50" "5162" "0" "5162" "0" "c.*611C>T" "r.(=)" "p.(=)" ""
"0000009276" "00001338" "50" "5162" "0" "5162" "0" "c.*611C>T" "r.(=)" "p.(=)" ""
"0000225083" "00001338" "90" "1933" "0" "1933" "0" "c.1933G>T" "r.(?)" "p.(Glu645*)" ""
"0000249743" "00001338" "50" "3956" "0" "3956" "0" "c.3956T>A" "r.(?)" "p.(Ile1319Asn)" ""
"0000254551" "00001338" "30" "1337" "0" "1337" "0" "c.1337T>C" "r.(?)" "p.(Ile446Thr)" ""
"0000281787" "00001338" "30" "4246" "0" "4246" "0" "c.4246C>T" "r.(?)" "p.(Pro1416Ser)" ""
"0000285790" "00001338" "90" "336" "0" "336" "0" "c.336G>A" "r.(?)" "p.(Trp112Ter)" ""
"0000285791" "00001338" "10" "4246" "0" "4246" "0" "c.4246C>T" "r.(?)" "p.(Pro1416Ser)" ""
"0000285792" "00001338" "90" "438" "0" "438" "0" "c.438C>A" "r.(?)" "p.(Cys146Ter)" ""
"0000290241" "00001338" "50" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Arg348Gln)" ""
"0000290242" "00001338" "90" "1701" "0" "1702" "0" "c.1701_1702del" "r.(?)" "p.(Val568GlufsTer4)" ""
"0000290243" "00001338" "30" "2098" "0" "2098" "0" "c.2098G>C" "r.(?)" "p.(Val700Leu)" ""
"0000290244" "00001338" "30" "2315" "0" "2315" "0" "c.2315G>A" "r.(?)" "p.(Arg772His)" ""
"0000290245" "00001338" "50" "3118" "0" "3118" "0" "c.3118A>G" "r.(?)" "p.(Ile1040Val)" ""
"0000290246" "00001338" "90" "3652" "0" "3652" "0" "c.3652C>T" "r.(?)" "p.(Gln1218Ter)" ""
"0000290247" "00001338" "50" "3658" "0" "3658" "0" "c.3658C>T" "r.(?)" "p.(Pro1220Ser)" ""
"0000290248" "00001338" "30" "4246" "0" "4246" "0" "c.4246C>T" "r.(?)" "p.(Pro1416Ser)" ""
"0000334674" "00001338" "50" "3812" "0" "3812" "0" "c.3812T>C" "r.(?)" "p.(Met1271Thr)" ""
"0000334675" "00001338" "30" "2801" "0" "2801" "0" "c.2801A>G" "r.(?)" "p.(Asn934Ser)" ""
"0000334676" "00001338" "50" "2752" "0" "2752" "0" "c.2752G>T" "r.(?)" "p.(Ala918Ser)" ""
"0000334678" "00001338" "50" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Ala662Thr)" ""
"0000334679" "00001338" "50" "484" "0" "484" "0" "c.484G>C" "r.(?)" "p.(Gly162Arg)" ""
"0000343186" "00001338" "50" "1877" "0" "1877" "0" "c.1877G>A" "r.(?)" "p.(Arg626His)" ""
"0000343188" "00001338" "30" "1883" "0" "1883" "0" "c.1883G>T" "r.(?)" "p.(Arg628Leu)" ""
"0000343817" "00001338" "90" "2075" "0" "2075" "0" "c.2075del" "r.(?)" "p.(Asn692MetfsTer9)" ""
"0000343885" "00001338" "50" "3427" "0" "3427" "0" "c.3427G>C" "r.(?)" "p.(Asp1143His)" ""
"0000344926" "00001338" "70" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Gln652Ter)" ""
"0000345306" "00001338" "90" "784" "0" "784" "0" "c.784G>T" "r.(?)" "p.(Glu262Ter)" ""
"0000345587" "00001338" "90" "2707" "0" "2707" "0" "c.2707G>T" "r.(?)" "p.(Glu903Ter)" ""
"0000347417" "00001338" "50" "4363" "0" "4363" "0" "c.4363A>C" "r.(?)" "p.(Lys1455Gln)" ""
"0000347746" "00001338" "50" "4033" "0" "4033" "0" "c.4033A>G" "r.(?)" "p.(Met1345Val)" ""
"0000349230" "00001338" "90" "2984" "0" "2984" "0" "c.2984C>A" "r.(?)" "p.(Ser995Ter)" ""
"0000368958" "00001338" "90" "1961" "0" "1961" "0" "c.1961C>A" "r.(?)" "p.(Ser654*)" ""
"0000393055" "00001338" "50" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" ""
"0000393056" "00001338" "50" "206" "0" "206" "0" "c.206C>G" "r.(?)" "p.(Ser69Cys)" ""
"0000393057" "00001338" "50" "2598" "0" "2598" "0" "c.2598C>A" "r.(=)" "p.(=)" ""
"0000393058" "00001338" "50" "2801" "0" "2801" "0" "c.2801A>G" "r.(?)" "p.(Asn934Ser)" ""
"0000393059" "00001338" "50" "3812" "0" "3812" "0" "c.3812T>C" "r.(?)" "p.(Met1271Thr)" ""
"0000408084" "00001338" "00" "3598" "0" "3598" "0" "c.3598dup" "r.(?)" "p.(Ser1200Phefs*5)" ""
"0000577432" "00001338" "30" "4547" "0" "4547" "0" "c.4547T>C" "r.(?)" "p.(Ile1516Thr)" ""
"0000577434" "00001338" "30" "4205" "0" "4205" "0" "c.4205A>G" "r.(?)" "p.(Asn1402Ser)" ""
"0000577435" "00001338" "30" "4153" "0" "4153" "0" "c.4153T>G" "r.(?)" "p.(Ser1385Ala)" ""
"0000577437" "00001338" "30" "3823" "0" "3823" "0" "c.3823A>G" "r.(?)" "p.(Ser1275Gly)" ""
"0000577439" "00001338" "30" "3222" "0" "3222" "0" "c.3222G>A" "r.(?)" "p.(Pro1074=)" ""
"0000577440" "00001338" "30" "3054" "0" "3054" "0" "c.3054C>T" "r.(?)" "p.(Gly1018=)" ""
"0000577441" "00001338" "50" "2965" "0" "2965" "0" "c.2965C>T" "r.(?)" "p.(Arg989Trp)" ""
"0000577442" "00001338" "30" "2889" "0" "2889" "0" "c.2889T>C" "r.(?)" "p.(Ser963=)" ""
"0000577443" "00001338" "30" "2545" "0" "2545" "0" "c.2545G>A" "r.(?)" "p.(Glu849Lys)" ""
"0000577444" "00001338" "30" "1840" "0" "1840" "0" "c.1840C>T" "r.(?)" "p.(Pro614Ser)" ""
"0000577445" "00001338" "30" "1285" "0" "1285" "0" "c.1285C>G" "r.(?)" "p.(Leu429Val)" ""
"0000577446" "00001338" "90" "1276" "0" "1276" "0" "c.1276C>T" "r.(?)" "p.(Gln426Ter)" ""
"0000577447" "00001338" "30" "1125" "0" "1125" "0" "c.1125G>A" "r.(?)" "p.(Glu375=)" ""
"0000577448" "00001338" "70" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Ter)" ""
"0000577449" "00001338" "30" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Val341Ile)" ""
"0000577450" "00001338" "30" "959" "0" "959" "0" "c.959A>G" "r.(?)" "p.(Asn320Ser)" ""
"0000577452" "00001338" "30" "133" "0" "133" "0" "c.133G>A" "r.(?)" "p.(Ala45Thr)" ""
"0000604454" "00001338" "70" "1713" "0" "1716" "0" "c.1713_1716del" "r.(?)" "p.(Ser571Argfs*13)" ""
"0000604586" "00001338" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322*)" ""
"0000619882" "00001338" "70" "4087" "0" "4087" "0" "c.4087A>T" "r.(?)" "p.(Lys1363Ter)" ""
"0000619883" "00001338" "30" "3823" "0" "3823" "0" "c.3823A>G" "r.(?)" "p.(Ser1275Gly)" ""
"0000619884" "00001338" "90" "3305" "0" "3305" "0" "c.3305dup" "r.(?)" "p.(Gly1104ArgfsTer30)" ""
"0000619885" "00001338" "30" "2847" "0" "2847" "0" "c.2847G>A" "r.(?)" "p.(Leu949=)" ""
"0000619886" "00001338" "30" "2139" "0" "2139" "0" "c.2139G>A" "r.(?)" "p.(Glu713=)" ""
"0000619887" "00001338" "90" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Arg218Ter)" ""
"0000624719" "00001338" "30" "4257" "0" "4257" "0" "c.4257C>T" "r.(?)" "p.(Asn1419=)" ""
"0000624720" "00001338" "30" "4048" "0" "4048" "0" "c.4048G>A" "r.(?)" "p.(Asp1350Asn)" ""
"0000647133" "00001338" "70" "3142" "0" "3142" "0" "c.3142G>T" "r.(?)" "p.(Glu1048*)" ""
"0000652950" "00001338" "10" "855" "0" "855" "0" "c.855A>G" "r.(=)" "p.(=)" ""
"0000659447" "00001338" "30" "4422" "0" "4422" "0" "c.4422G>A" "r.(?)" "p.(Lys1474=)" ""
"0000659448" "00001338" "30" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Ser1108Asn)" ""
"0000663261" "00001338" "70" "2284" "0" "2284" "0" "c.2284del" "r.(?)" "p.(Glu762Lysfs*58)" ""
"0000670134" "00001338" "10" "855" "0" "855" "0" "c.855A>G" "r.(=)" "p.(=)" ""
"0000673681" "00001338" "70" "2562" "0" "2563" "0" "c.2562_2563dup" "r.(?)" "p.(Leu855Profs*55)" ""
"0000682636" "00001338" "30" "4320" "0" "4320" "0" "c.4320C>T" "r.(?)" "p.(Asn1440=)" ""
"0000682637" "00001338" "30" "3812" "0" "3812" "0" "c.3812T>C" "r.(?)" "p.(Met1271Thr)" ""
"0000682638" "00001338" "30" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Asn116Ser)" ""
"0000693738" "00001338" "30" "3222" "0" "3222" "0" "c.3222G>A" "r.(?)" "p.(Pro1074=)" ""
"0000693739" "00001338" "30" "2098" "0" "2098" "0" "c.2098G>C" "r.(?)" "p.(Val700Leu)" ""
"0000698183" "00001338" "70" "3597" "0" "3597" "0" "c.3597dup" "r.(?)" "p.(Ser1200Ilefs*5)" ""
"0000729180" "00001338" "50" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" ""
"0000729181" "00001338" "30" "4422" "0" "4422" "0" "c.4422G>A" "r.(?)" "p.(Lys1474=)" ""
"0000729182" "00001338" "50" "4363" "0" "4363" "0" "c.4363A>C" "r.(?)" "p.(Lys1455Gln)" ""
"0000729183" "00001338" "50" "3677" "0" "3677" "0" "c.3677G>C" "r.(?)" "p.(Gly1226Ala)" ""
"0000729184" "00001338" "50" "3460" "0" "3460" "0" "c.3460C>A" "r.(?)" "p.(Pro1154Thr)" ""
"0000729185" "00001338" "30" "3441" "0" "3441" "0" "c.3441C>T" "r.(?)" "p.(Val1147=)" ""
"0000729188" "00001338" "30" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Asp1107Asn)" ""
"0000729190" "00001338" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Asp319Asn)" ""
"0000786900" "00001338" "70" "2749" "0" "2749" "0" "c.2749G>T" "r.(?)" "p.(Gly917Ter)" "3"
"0000810663" "00001338" "30" "3744" "0" "3744" "0" "c.3744C>A" "r.(?)" "p.(Thr1248=)" ""
"0000810664" "00001338" "30" "3036" "0" "3036" "0" "c.3036G>A" "r.(?)" "p.(Lys1012=)" ""
"0000810665" "00001338" "30" "2320" "0" "2320" "0" "c.2320T>C" "r.(?)" "p.(Ser774Pro)" ""
"0000810666" "00001338" "30" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ser69Phe)" ""
"0000810667" "00001338" "30" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Val10Ile)" ""
"0000824014" "00001338" "50" "3964" "0" "3964" "0" "c.3964A>G" "r.(?)" "p.(Asn1322Asp)" ""
"0000856784" "00001338" "30" "4479" "0" "4479" "0" "c.4479A>G" "r.(?)" "p.(Leu1493=)" ""
"0000856785" "00001338" "30" "4353" "0" "4353" "0" "c.4353A>G" "r.(?)" "p.(Lys1451=)" ""
"0000856786" "00001338" "50" "4346" "0" "4346" "0" "c.4346G>A" "r.(?)" "p.(Arg1449His)" ""
"0000856787" "00001338" "30" "4221" "0" "4221" "0" "c.4221A>G" "r.(?)" "p.(Ile1407Met)" ""
"0000856788" "00001338" "50" "3257" "0" "3257" "0" "c.3257G>A" "r.(?)" "p.(Cys1086Tyr)" ""
"0000856789" "00001338" "50" "979" "0" "979" "0" "c.979C>A" "r.(?)" "p.(Leu327Ile)" ""
"0000867561" "00001338" "30" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Thr176=)" ""
"0000880872" "00001338" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322*)" "2"
"0000880884" "00001338" "90" "3409" "0" "3409" "0" "c.3409C>T" "r.(?)" "p.(Gln1137*)" ""
"0000881251" "00001338" "90" "3409" "0" "3409" "0" "c.3409C>T" "r.(?)" "p.(Gln1137Ter)" ""
"0000896364" "00001338" "30" "3319" "0" "3319" "0" "c.3319G>A" "r.(?)" "p.(Asp1107Asn)" ""
"0000896365" "00001338" "50" "1019" "0" "1019" "0" "c.1019G>C" "r.(?)" "p.(Ser340Thr)" ""
"0000915764" "00001338" "50" "1598" "0" "1598" "0" "c.1598G>A" "r.(?)" "p.(Arg533His)" ""
"0000931465" "00001338" "90" "1441" "0" "1441" "0" "c.1441C>T" "r.(?)" "p.(Arg481*)" ""
"0000936439" "00001338" "90" "2931" "0" "2935" "0" "c.2931_2935dup" "r.(?)" "p.(Gln979Leufs*33)" ""
"0000971689" "00001338" "70" "3879" "0" "3879" "0" "c.3879G>A" "r.(?)" "p.(Trp1293*)" "3"
"0000972227" "00001338" "70" "3879" "0" "3879" "0" "c.3879G>A" "r.(?)" "p.(Trp1293*)" "3"
"0000984858" "00001338" "50" "1675" "0" "1675" "0" "c.1675G>A" "r.(?)" "p.(Gly559Ser)" ""
"0000984859" "00001338" "30" "190" "0" "190" "0" "c.190C>A" "r.(?)" "p.(Leu64Ile)" ""
"0000985198" "00001338" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628*)" "3"
"0001006956" "00001338" "30" "4048" "0" "4048" "0" "c.4048G>A" "r.(?)" "p.(Asp1350Asn)" ""
"0001006957" "00001338" "50" "3262" "0" "3262" "0" "c.3262A>G" "r.(?)" "p.(Ser1088Gly)" ""
"0001006958" "00001338" "50" "2591" "0" "2591" "0" "c.2591C>T" "r.(?)" "p.(Thr864Ile)" ""
"0001006959" "00001338" "90" "2471" "0" "2471" "0" "c.2471T>A" "r.(?)" "p.(Leu824*)" ""
"0001006960" "00001338" "30" "1931" "0" "1931" "0" "c.1931T>C" "r.(?)" "p.(Ile644Thr)" ""
"0001006961" "00001338" "50" "1415" "0" "1415" "0" "c.1415C>T" "r.(?)" "p.(Ser472Phe)" ""
"0001006962" "00001338" "30" "681" "0" "681" "0" "c.681G>C" "r.(?)" "p.(Leu227Phe)" ""
"0001006963" "00001338" "50" "340" "0" "340" "0" "c.340C>A" "r.(?)" "p.(Leu114Ile)" ""
"0001011924" "00001338" "90" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Ter)" ""
"0001016059" "00001338" "30" "3191" "0" "3191" "0" "c.3191G>A" "r.(?)" "p.(Arg1064His)" ""
"0001016060" "00001338" "70" "2244" "0" "2244" "0" "c.2244del" "r.(?)" "p.(Leu749Serfs*11)" ""
"0001018832" "00001338" "70" "2692" "0" "2692" "0" "c.2692C>T" "r.(?)" "p.(Gln898*)" "3"
"0001027533" "00001338" "50" "3402" "0" "3402" "0" "c.3402C>A" "r.(?)" "p.(His1134Gln)" ""
"0001046880" "00001338" "30" "2130" "0" "2130" "0" "c.2130G>A" "r.(?)" "p.(=)" ""
"0001047289" "00001338" "70" "3597" "0" "3597" "0" "c.3597dup" "r.(3597dup)" "p.(Ser1200Ilefs*5)" "3"
"0001049037" "00001338" "90" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Gln856Ter)" ""
"0001057364" "00001338" "50" "4508" "0" "4508" "0" "c.4508C>T" "r.(?)" "p.(Pro1503Leu)" ""
"0001058819" "00001338" "90" "2418" "0" "2419" "0" "c.2418_2419delinsN[19]" "r.(?)" "p.(Prp808ThrfsTer4)" ""
"0001058820" "00001338" "90" "788" "0" "788" "0" "c.788del" "r.(?)" "p.(Thr263IlefsTer41)" ""
"0001058821" "00001338" "70" "1904" "0" "1904" "0" "c.1904G>C" "r.(?)" "p.(Arg635Thr)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 34
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000007182"
"0000000210" "0000009276"
"0000134889" "0000225083"
"0000165299" "0000368958"
"0000173198" "0000393055"
"0000173199" "0000393056"
"0000173200" "0000393057"
"0000173201" "0000393058"
"0000173202" "0000393059"
"0000184115" "0000408084"
"0000270673" "0000604454"
"0000270761" "0000604586"
"0000290464" "0000647133"
"0000296261" "0000652950"
"0000300549" "0000663261"
"0000306446" "0000670134"
"0000307116" "0000673681"
"0000316057" "0000698183"
"0000375549" "0000786900"
"0000393283" "0000824014"
"0000420516" "0000880872"
"0000420527" "0000880884"
"0000420892" "0000881251"
"0000440145" "0000936439"
"0000450059" "0000971689"
"0000450261" "0000972227"
"0000451344" "0000985198"
"0000457421" "0001011924"
"0000459887" "0001018832"
"0000467884" "0001047289"
"0000468943" "0001049037"
"0000470697" "0001058819"
"0000470698" "0001058820"
"0000470699" "0001058821"