### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MED23) # 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}}" "MED23" "mediator complex subunit 23" "6" "q22.33-q24.1" "unknown" "NG_031860.1" "UD_134408552476" "" "https://www.LOVD.nl/MED23" "" "1" "2372" "9439" "605042" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MED23_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-12-22 17:29:11" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00025352" "MED23" "transcript variant 2" "002" "NM_015979.3" "" "NP_057063.2" "" "" "" "-190" "4425" "4098" "131949379" "131895106" "00006" "2018-12-22 17:28:02" "" "" "00025828" "MED23" "transcript variant 1" "004" "NM_004830.3" "" "NP_004821.2" "" "" "" "-190" "5048" "4107" "131949379" "131907878" "00006" "2023-04-04 16:29:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00798" "MRT18" "mental retardation, autosomal recessive, type 18 (MRT-18)" "AR" "614249" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05533" "MR;ID" "mental retardation (MR, intellectual disability (ID))" "" "" "" "" "" "00006" "2018-12-18 09:22:07" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MED23" "00139" "MED23" "00798" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00207885" "" "" "" "1" "" "00006" "{PMID:Lionel 2016:27311965}, {PMID:Lionel 2018:28771251}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Canada" "" "0" "" "" "Palestinian" "28771251-Pat32" "00209043" "" "" "" "5" "" "00006" "{PMID:Hashimoto 2011:21868677}" "2-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents" "F" "yes" "Algeria" "" "0" "" "" "" "21868677-Fam" "00209044" "" "" "00209043" "1" "" "00006" "{PMID:Hashimoto 2011:21868677}" "sister" "F" "yes" "Algeria" "" "0" "" "" "" "21868677-FamPat2" "00209045" "" "" "" "2" "" "00006" "{PMID:Trehan 2015:25845469}" "2-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "25845469-FamPat1" "00209046" "" "" "00209045" "1" "" "00006" "{PMID:Trehan 2015:25845469}" "brother" "M" "no" "United States" "" "0" "" "" "" "25845469-FamPat2" "00293981" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317991" "" "" "" "1" "" "00006" "{PMID:Riazuddin 2017:27457812}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKMR85" "00361489" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG2434" "00374132" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" "00434641" "" "" "" "1" "" "00006" "{PMID:Gostain 2020:32960281}, {PMID:Deshwar 2023:36990084}" "" "F" "" "Canada" "" "0" "" "" "" "CMC01" "00447962" "" "" "" "4" "" "00006" "{PMID:Chia 2018:29784083}" "2-generation family, 2 affected, unaffectedheteroczugous carrier parents/sibs" "M" "yes" "Jordan" "" "0" "" "" "" "FamPatII1" "00447963" "" "" "00447962" "1" "" "00006" "{PMID:Chia 2018:29784083}" "affected sister" "F" "yes" "Jordan" "" "0" "" "" "" "FamPatII4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00207885" "00198" "00209043" "05533" "00209044" "05533" "00209045" "05533" "00209046" "05533" "00293981" "00198" "00317991" "00139" "00361489" "00139" "00374132" "00198" "00434641" "00198" "00447962" "05611" "00447963" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00798, 05533, 05611 ## Count = 11 "{{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}}" "0000155669" "00198" "00207885" "00006" "Familial, autosomal recessive" "07y06m" "see paper; global developmental delay, microcephaly, axial hypotonia, spasticity, seizures; EEG GTS/spike and sharp-wave complexes over the bilateral parasaggital chain; MRI-brain thin corpus callosum, delayed myelination" "" "" "" "" "" "" "" "" "" "MRT-18" "global developmental delay" "" "0000157649" "05533" "00209043" "00006" "Familial, autosomal recessive" "39y" "mild to moderate ID, no seizures, normal, normal brain MRI" "" "" "" "" "" "" "" "" "" "MRT-19" "non-syndromic intellectual disability" "" "0000157650" "05533" "00209044" "00006" "Familial, autosomal recessive" "41y" "mild to moderate ID, no seizures, normal EEG, normal brain MRI" "" "" "" "" "" "" "" "" "" "MRT-19" "non-syndromic intellectual disability" "" "0000157651" "05533" "00209045" "00006" "Familial, autosomal recessive" "11y" "profound ID, spasticity, axial hypotonia, dystonia, seizures screaming spells; EEG unprovoked and photic-provoked epileptiform abnormalities; MRI-brain pontine hypoplasia" "" "" "" "" "" "" "" "" "" "MRT-19" "intellectual disability" "" "0000157652" "05533" "00209046" "00006" "Familial, autosomal recessive" "05y" "profound ID, spasticity, axial hypotonia, choreoathetosis, seizures screaming spells; EEG disorganized slow background, bilateral frontal epileptiform abnormalities; MRI-brain pontine hypoplasia, thin corpus callosum, temporal lobe hypomyelination" "" "" "" "" "" "" "" "" "" "MRT-19" "intellectual disability" "" "0000241775" "00139" "00317991" "00006" "Familial, autosomal recessive" "" "No other clinical manifestation" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000256894" "00139" "00361489" "00006" "Familial, autosomal recessive" "11y" "not syndromic; global developmental delay, seizures, macrostomia" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269343" "00198" "00374132" "00006" "Unknown" "<0d" "27w-fetus, ultrasound intrauterine growth retardation, holoprosencephaly; autopsy intrauterine growth retardation, craniostenosis, holoprosencephaly, corpus callosum agenesis, gyration defect, hemihypertrophia" "" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000324891" "00198" "00434641" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000337152" "05611" "00447962" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.2kg, length 50cm, OFC 35cm; 11y-growth failure, height 149cm (<5th), weight 30kg (<5th), OFC 54.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 11y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "" "0000337153" "05611" "00447963" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth at term, weight 3.1kg, length 49cm, OFC 34cm; 4y-growth failure, height 108cm (15th), weight 16kg (5th), OFC 47.5cm; severe developmental dealy; never walked; no speech; seizures; convulsions; EEG abnormal; hypotonia, spastic; MRI brain 4y-normal; no behavioural anomalies" "" "" "" "" "" "" "" "" "" "MRT63" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208927" "00207885" "1" "00006" "00006" "2018-12-02 17:52:50" "" "" "SEQ" "DNA" "" "WGS" "0000210100" "00209043" "1" "00006" "00006" "2018-12-22 17:41:05" "" "" "SEQ" "DNA" "" "" "0000210101" "00209044" "1" "00006" "00006" "2018-12-22 17:44:20" "" "" "SEQ" "DNA" "" "" "0000210102" "00209045" "1" "00006" "00006" "2018-12-22 17:50:09" "" "" "SEQ" "DNA" "" "" "0000210103" "00209046" "1" "00006" "00006" "2018-12-22 17:55:24" "" "" "SEQ" "DNA" "" "WES" "0000295149" "00293981" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319173" "00317991" "1" "00006" "00006" "2020-11-05 17:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362717" "00361489" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000375325" "00374132" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000436112" "00434641" "1" "00006" "00006" "2023-04-04 16:23:46" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000449535" "00447962" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000449536" "00447963" "1" "00006" "00006" "2024-02-05 12:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000208927" "MED23" "0000210100" "MED23" "0000210101" "MED23" "0000210102" "MED23" "0000210103" "MED23" "0000319173" "MED23" "0000362717" "MED23" "0000375325" "MED23" ## 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 = 50 "{{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}}" "0000248564" "0" "10" "6" "131914232" "131914232" "subst" "0.0231125" "02325" "MED23_000002" "g.131914232A>G" "" "" "" "MED23(NM_004830.4):c.3312T>C (p.A1104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131593092A>G" "" "benign" "" "0000279641" "0" "10" "6" "131900390" "131900390" "subst" "0.0476729" "02330" "ARG1_000002" "g.131900390C>T" "" "" "" "ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.4):c.4096-4955G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131579250C>T" "" "benign" "" "0000282460" "0" "50" "6" "131917741" "131917741" "subst" "8.12592E-6" "02325" "MED23_000004" "g.131917741G>A" "" "" "" "MED23(NM_004830.4):c.2695C>T (p.R899*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131596601G>A" "" "VUS" "" "0000282461" "0" "10" "6" "131900390" "131900390" "subst" "0.0476729" "02325" "ARG1_000002" "g.131900390C>T" "" "" "" "ARG1(NM_001244438.2):c.294C>T (p.N98=), MED23(NM_015979.4):c.4096-4955G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131579250C>T" "" "benign" "" "0000286233" "0" "90" "6" "131924269" "131924269" "subst" "1.21972E-5" "02326" "MED23_000007" "g.131924269C>T" "" "" "" "MED23(NM_004830.4):c.1832G>A (p.R611Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131603129C>T" "" "pathogenic" "" "0000291718" "0" "50" "6" "131946054" "131946054" "subst" "0.000272349" "01943" "MED23_000008" "g.131946054G>A" "" "" "" "MED23(NM_004830.4):c.235C>T (p.L79F, p.(Leu79Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131624914G>A" "" "VUS" "" "0000331217" "0" "50" "6" "131915482" "131915482" "subst" "0" "01804" "MED23_000003" "g.131915482A>C" "" "" "" "MED23(NM_001270521.1):c.2996-7T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131594342A>C" "" "VUS" "" "0000331219" "0" "50" "6" "131923400" "131923400" "subst" "0" "01804" "MED23_000006" "g.131923400G>A" "" "" "" "MED23(NM_001270521.1):c.2053C>T (p.(Arg685Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131602260G>A" "" "VUS" "" "0000345684" "0" "50" "6" "131944504" "131944504" "subst" "0" "02327" "MED23_000011" "g.131944504C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131623364C>A" "" "VUS" "" "0000349876" "0" "50" "6" "131915271" "131915271" "subst" "0" "02327" "MED23_000010" "g.131915271T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.131594131T>C" "" "VUS" "" "0000438960" "3" "90" "6" "131924182" "131924182" "subst" "4.06504E-6" "00006" "MED23_000012" "g.131924182T>C" "" "{PMID:Lionel 2016:27311965}, {PMID:Lionel 2018:28771251}" "" "" "" "Germline" "" "" "0" "" "" "g.131603042T>C" "" "pathogenic (recessive)" "" "0000441269" "3" "90" "6" "131924269" "131924269" "subst" "1.21972E-5" "00006" "MED23_000007" "g.131924269C>T" "" "{PMID:Hashimoto 2011:21868677}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131603129C>T" "" "pathogenic (recessive)" "" "0000441270" "3" "90" "6" "131924269" "131924269" "subst" "1.21972E-5" "00006" "MED23_000007" "g.131924269C>T" "" "{PMID:Hashimoto 2011:21868677}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131603129C>T" "" "pathogenic (recessive)" "" "0000441271" "21" "90" "6" "131912501" "131912501" "subst" "0" "00006" "MED23_000013" "g.131912501T>C" "" "{PMID:Trehan 2015:25845469}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131591361T>C" "" "pathogenic (recessive)" "" "0000441272" "11" "90" "6" "131908938" "131908938" "subst" "0" "00006" "MED23_000014" "g.131908938G>A" "" "{PMID:Trehan 2015:25845469}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131587798G>A" "" "pathogenic (recessive)" "" "0000441273" "11" "90" "6" "131908938" "131908938" "subst" "0" "00006" "MED23_000014" "g.131908938G>A" "" "{PMID:Trehan 2015:25845469}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131587798G>A" "" "pathogenic (recessive)" "" "0000441274" "21" "90" "6" "131912501" "131912501" "subst" "0" "00006" "MED23_000013" "g.131912501T>C" "" "{PMID:Trehan 2015:25845469}" "" "" "" "Germline" "yes" "" "0" "" "" "g.131591361T>C" "" "pathogenic (recessive)" "" "0000527194" "0" "50" "6" "131904627" "131904627" "subst" "9.76753E-5" "02330" "ARG1_000016" "g.131904627A>C" "" "" "" "ARG1(NM_001244438.2):c.822A>C (p.K274N), MED23(NM_015979.4):c.4095+4222T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131583487A>C" "" "VUS" "" "0000527195" "0" "30" "6" "131915481" "131915481" "subst" "0" "01804" "ARG1_000017" "g.131915481A>G" "" "" "" "MED23(NM_001270521.1):c.2996-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131594341A>G" "" "likely benign" "" "0000527196" "0" "50" "6" "131919531" "131919531" "subst" "0" "01943" "ARG1_000018" "g.131919531A>G" "" "" "" "MED23(NM_004830.4):c.2503T>C (p.S835P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131598391A>G" "" "VUS" "" "0000527197" "0" "30" "6" "131923511" "131923511" "subst" "0" "01804" "ARG1_000019" "g.131923511T>C" "" "" "" "MED23(NM_001270521.1):c.1942A>G (p.(Thr648Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131602371T>C" "" "likely benign" "" "0000527198" "0" "50" "6" "131925331" "131925331" "subst" "0" "01943" "ARG1_000020" "g.131925331G>C" "" "" "" "MED23(NM_004830.4):c.1743C>G (p.I581M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131604191G>C" "" "VUS" "" "0000527201" "0" "50" "6" "131931308" "131931308" "subst" "0" "01943" "ARG1_000023" "g.131931308C>A" "" "" "" "MED23(NM_004830.4):c.955G>T (p.E319*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131610168C>A" "" "VUS" "" "0000527203" "0" "50" "6" "131948828" "131948830" "del" "0" "01804" "ARG1_000025" "g.131948828_131948830del" "" "" "" "MED23(NM_001270521.1):c.40-7_40-5del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131627688_131627690del" "" "VUS" "" "0000527204" "0" "30" "6" "131948828" "131948830" "dup" "0" "01804" "ARG1_000026" "g.131948828_131948830dup" "" "" "" "MED23(NM_001270521.1):c.40-5_40-4insTTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131627688_131627690dup" "" "likely benign" "" "0000527205" "0" "30" "6" "131948829" "131948830" "dup" "0" "01804" "ARG1_000027" "g.131948829_131948830dup" "" "" "" "MED23(NM_001270521.1):c.40-6_40-5insTT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131627689_131627690dup" "" "likely benign" "" "0000527207" "0" "10" "6" "131948830" "131948830" "dup" "0" "01943" "ARG1_000028" "g.131948830dup" "" "" "" "MED23(NM_004830.4):c.40-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131627690dup" "" "benign" "" "0000610017" "0" "30" "6" "131900351" "131900351" "subst" "2.03224E-5" "01943" "ARG1_000029" "g.131900351C>T" "" "" "" "ARG1(NM_001244438.1):c.255C>T (p.S85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.131579211C>T" "" "likely benign" "" "0000651838" "1" "10" "6" "131914232" "131914232" "subst" "0.0231125" "03575" "MED23_000002" "g.131914232A>G" "24/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous, no homozygous; {DB:CLININrs77187818}" "Germline" "" "rs77187818" "0" "" "" "g.131593092A>G" "" "benign" "" "0000689625" "0" "90" "6" "131902519" "131902519" "subst" "0" "02330" "ARG1_000030" "g.131902519G>C" "" "" "" "ARG1(NM_000045.4):c.465+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000701837" "3" "70" "6" "131941859" "131941859" "subst" "0" "00006" "MED23_000015" "g.131941859T>C" "" "{PMID:Riazuddin 2017:27457812}" "" "" "" "Germline" "" "" "0" "" "" "g.131620719T>C" "" "likely pathogenic (recessive)" "" "0000763091" "3" "70" "6" "131943037" "131943037" "subst" "0" "00006" "MED23_000016" "g.131943037A>G" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline" "" "" "0" "" "" "g.131621897A>G" "" "likely pathogenic" "ACMG" "0000786666" "1" "50" "6" "131931230" "131931230" "subst" "0" "00006" "MED23_000017" "g.131931230G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "NM_004830.4:c.1033C>T" "non-concordant phenotype; only five homozygous or compound heterozygous non-truncating variants are reported in OMIM614249 phenotype (4 missense and 1 N-terminal nonsense without non-non-sense mediated decay(NMD)); compound hererozygous status of pathogenic missense and nonsense with NMD could lead to a more severe phenotype" "Germline" "" "" "0" "" "" "g.131610090G>A" "" "VUS" "" "0000786681" "2" "50" "6" "131924269" "131924269" "subst" "1.21972E-5" "00006" "MED23_000007" "g.131924269C>T" "" "{PMID:Lefebvre 2021:32732226}" "" "NM_004830.4:c.1832G>A" "non-concordant phenotype; only five homozygous or compound heterozygous non-truncating variants are reported in OMIM614249 phenotype (4 missense and 1 N-terminal nonsense without non-non-sense mediated decay(NMD)); compound hererozygous status of pathogenic missense and nonsense with NMD could lead to a more severe phenotype" "Germline" "" "" "0" "" "" "g.131603129C>T" "" "VUS" "" "0000802314" "0" "30" "6" "131903781" "131903781" "subst" "0" "01943" "ARG1_000031" "g.131903781C>A" "" "" "" "ARG1(NM_001244438.1):c.510C>A (p.F170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922453" "3" "30" "6" "131910600" "131910600" "subst" "8.20123E-6" "00006" "MED23_000018" "g.131910600C>T" "" "{PMID:Gostain 2020:32960281}, {PMID:Deshwar 2023:36990084}" "" "" "" "Germline" "" "" "0" "" "" "g.131589460C>T" "{CV-SCV:000681305.2}" "VUS" "ACMG" "0000959878" "3" "50" "6" "131946054" "131946054" "subst" "0.000272349" "00006" "MED23_000008" "g.131946054G>A" "" "{PMID:Chia 2018:29784083}" "" "" "" "Germline" "" "" "0" "" "" "g.131624914G>A" "" "likely benign" "" "0000959951" "3" "50" "6" "131946054" "131946054" "subst" "0.000272349" "00006" "MED23_000008" "g.131946054G>A" "" "{PMID:Chia 2018:29784083}" "" "" "" "Germline" "" "" "0" "" "" "g.131624914G>A" "" "likely benign" "" "0000976977" "0" "50" "6" "131917110" "131917110" "dup" "0" "01804" "ARG1_000101" "g.131917110dup" "" "" "" "MED23(NM_004830.4):c.2972dup (p.(Gly992Argfs*5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976978" "0" "50" "6" "131917722" "131917722" "subst" "0" "01804" "ARG1_000102" "g.131917722T>G" "" "" "" "MED23(NM_004830.4):c.2714A>C (p.(Lys905Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976979" "0" "50" "6" "131921170" "131921170" "subst" "0" "01804" "ARG1_000103" "g.131921170C>G" "" "" "" "MED23(NM_004830.4):c.2220+8G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976980" "0" "50" "6" "131921198" "131921198" "subst" "0" "01804" "ARG1_000104" "g.131921198A>G" "" "" "" "MED23(NM_004830.4):c.2200T>C (p.(Cys734Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976981" "0" "50" "6" "131931374" "131931374" "subst" "0" "01804" "ARG1_000105" "g.131931374A>G" "" "" "" "MED23(NM_004830.4):c.889T>C (p.(Cys297Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029756" "0" "30" "6" "131914136" "131914136" "subst" "0" "03779" "MED23_000019" "g.131914136G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001035472" "0" "50" "6" "131915230" "131915230" "subst" "4.07558E-6" "01804" "ARG1_000110" "g.131915230A>G" "" "" "" "MED23(NM_004830.4):c.3232+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035473" "0" "30" "6" "131936485" "131936485" "subst" "4.0653E-6" "01804" "ARG1_000111" "g.131936485G>C" "" "" "" "MED23(NM_001376517.1):c.877-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035474" "0" "50" "6" "131937150" "131937150" "subst" "2.87614E-5" "01804" "ARG1_000112" "g.131937150G>T" "" "" "" "MED23(NM_004830.4):c.781-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035475" "0" "50" "6" "131946054" "131946054" "subst" "0.000272349" "01804" "MED23_000008" "g.131946054G>A" "" "" "" "MED23(NM_004830.4):c.235C>T (p.L79F, p.(Leu79Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052490" "0" "70" "6" "131902491" "131902494" "dup" "0" "01804" "ARG1_000113" "g.131902491_131902494dup" "" "" "" "ARG1(NM_000045.4):c.438_441dup (p.(Leu148Phefs*50))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052491" "0" "50" "6" "131904279" "131904279" "subst" "8.13127E-6" "01804" "ARG1_000114" "g.131904279G>A" "" "" "" "ARG1(NM_000045.4):c.640G>A (p.(Glu214Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MED23 ## Count = 86 "{{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}}" "0000248564" "00025352" "10" "3330" "0" "3330" "0" "c.3330T>C" "r.(?)" "p.(Ala1110=)" "" "0000248564" "00025828" "10" "3312" "0" "3312" "0" "c.3312T>C" "r.(?)" "p.(Ala1104=)" "" "0000279641" "00025352" "10" "4096" "-4955" "4096" "-4955" "c.4096-4955G>A" "r.(=)" "p.(=)" "" "0000279641" "00025828" "10" "12536" "0" "12536" "0" "c.*8429G>A" "r.(=)" "p.(=)" "" "0000282460" "00025352" "50" "2713" "0" "2713" "0" "c.2713C>T" "r.(?)" "p.(Arg905Ter)" "" "0000282460" "00025828" "50" "2695" "0" "2695" "0" "c.2695C>T" "r.(?)" "p.(Arg899Ter)" "" "0000282461" "00025352" "10" "4096" "-4955" "4096" "-4955" "c.4096-4955G>A" "r.(=)" "p.(=)" "" "0000282461" "00025828" "10" "12536" "0" "12536" "0" "c.*8429G>A" "r.(=)" "p.(=)" "" "0000286233" "00025352" "90" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617Gln)" "" "0000286233" "00025828" "90" "1832" "0" "1832" "0" "c.1832G>A" "r.(?)" "p.(Arg611Gln)" "" "0000291718" "00025352" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79Phe)" "" "0000291718" "00025828" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79Phe)" "" "0000331217" "00025352" "50" "3014" "-7" "3014" "-7" "c.3014-7T>G" "r.(=)" "p.(=)" "" "0000331217" "00025828" "50" "2996" "-7" "2996" "-7" "c.2996-7T>G" "r.(=)" "p.(=)" "" "0000331219" "00025352" "50" "2071" "0" "2071" "0" "c.2071C>T" "r.(?)" "p.(Arg691Ter)" "" "0000331219" "00025828" "50" "2053" "0" "2053" "0" "c.2053C>T" "r.(?)" "p.(Arg685Ter)" "" "0000345684" "00025352" "50" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Gly128Val)" "" "0000345684" "00025828" "50" "383" "0" "383" "0" "c.383G>T" "r.(?)" "p.(Gly128Val)" "" "0000349876" "00025352" "50" "3218" "0" "3218" "0" "c.3218A>G" "r.(?)" "p.(Tyr1073Cys)" "" "0000349876" "00025828" "50" "3200" "0" "3200" "0" "c.3200A>G" "r.(?)" "p.(Tyr1067Cys)" "" "0000438960" "00025352" "90" "1937" "0" "1937" "0" "c.1937A>G" "r.(?)" "p.(Gln646Arg)" "" "0000441269" "00025352" "90" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617Gln)" "" "0000441270" "00025352" "90" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617Gln)" "" "0000441271" "00025352" "90" "3656" "0" "3656" "0" "c.3656A>G" "r.(?)" "p.(His1219Arg)" "" "0000441272" "00025352" "90" "4006" "0" "4006" "0" "c.4006C>T" "r.(?)" "p.(Arg1336*)" "" "0000441273" "00025352" "90" "4006" "0" "4006" "0" "c.4006C>T" "r.(?)" "p.(Arg1336*)" "" "0000441274" "00025352" "90" "3656" "0" "3656" "0" "c.3656A>G" "r.(?)" "p.(His1219Arg)" "" "0000527194" "00025352" "50" "4095" "4222" "4095" "4222" "c.4095+4222T>G" "r.(=)" "p.(=)" "" "0000527194" "00025828" "50" "8299" "0" "8299" "0" "c.*4192T>G" "r.(=)" "p.(=)" "" "0000527195" "00025352" "30" "3014" "-6" "3014" "-6" "c.3014-6T>C" "r.(=)" "p.(=)" "" "0000527195" "00025828" "30" "2996" "-6" "2996" "-6" "c.2996-6T>C" "r.(=)" "p.(=)" "" "0000527196" "00025352" "50" "2521" "0" "2521" "0" "c.2521T>C" "r.(?)" "p.(Ser841Pro)" "" "0000527196" "00025828" "50" "2503" "0" "2503" "0" "c.2503T>C" "r.(?)" "p.(Ser835Pro)" "" "0000527197" "00025352" "30" "1960" "0" "1960" "0" "c.1960A>G" "r.(?)" "p.(Thr654Ala)" "" "0000527197" "00025828" "30" "1942" "0" "1942" "0" "c.1942A>G" "r.(?)" "p.(Thr648Ala)" "" "0000527198" "00025352" "50" "1761" "0" "1761" "0" "c.1761C>G" "r.(?)" "p.(Ile587Met)" "" "0000527198" "00025828" "50" "1743" "0" "1743" "0" "c.1743C>G" "r.(?)" "p.(Ile581Met)" "" "0000527201" "00025352" "50" "973" "0" "973" "0" "c.973G>T" "r.(?)" "p.(Glu325Ter)" "" "0000527201" "00025828" "50" "955" "0" "955" "0" "c.955G>T" "r.(?)" "p.(Glu319Ter)" "" "0000527203" "00025352" "50" "40" "-7" "40" "-5" "c.40-7_40-5del" "r.spl?" "p.?" "" "0000527203" "00025828" "50" "40" "-7" "40" "-5" "c.40-7_40-5del" "r.spl?" "p.?" "" "0000527204" "00025352" "30" "40" "-7" "40" "-5" "c.40-7_40-5dup" "r.spl?" "p.?" "" "0000527204" "00025828" "30" "40" "-7" "40" "-5" "c.40-7_40-5dup" "r.spl?" "p.?" "" "0000527205" "00025352" "30" "40" "-6" "40" "-5" "c.40-6_40-5dup" "r.spl?" "p.?" "" "0000527205" "00025828" "30" "40" "-6" "40" "-5" "c.40-6_40-5dup" "r.spl?" "p.?" "" "0000527207" "00025352" "10" "40" "-5" "40" "-5" "c.40-5dup" "r.spl?" "p.?" "" "0000527207" "00025828" "10" "40" "-5" "40" "-5" "c.40-5dup" "r.spl?" "p.?" "" "0000610017" "00025352" "30" "4096" "-4916" "4096" "-4916" "c.4096-4916G>A" "r.(=)" "p.(=)" "" "0000610017" "00025828" "30" "12575" "0" "12575" "0" "c.*8468G>A" "r.(=)" "p.(=)" "" "0000651838" "00025352" "10" "3330" "0" "3330" "0" "c.3330T>C" "r.(=)" "p.(=)" "" "0000651838" "00025828" "10" "3312" "0" "3312" "0" "c.3312T>C" "r.(=)" "p.(=)" "" "0000689625" "00025352" "90" "4095" "6330" "4095" "6330" "c.4095+6330C>G" "r.(=)" "p.(=)" "" "0000689625" "00025828" "90" "10407" "0" "10407" "0" "c.*6300C>G" "r.(=)" "p.(=)" "" "0000701837" "00025352" "70" "506" "0" "506" "0" "c.506A>G" "r.(?)" "p.(Tyr169Cys)" "" "0000763091" "00025352" "70" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Leu160Pro)" "" "0000786666" "00025352" "50" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Gln351Ter)" "" "0000786681" "00025352" "50" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617Gln)" "" "0000802314" "00025352" "30" "4095" "5068" "4095" "5068" "c.4095+5068G>T" "r.(=)" "p.(=)" "" "0000802314" "00025828" "30" "9145" "0" "9145" "0" "c.*5038G>T" "r.(=)" "p.(=)" "" "0000922453" "00025352" "30" "3957" "5" "3957" "5" "c.3957+5G>A" "r.3957_3958=" "p.Gln1319_Val1320=" "" "0000922453" "00025828" "30" "3939" "5" "3939" "5" "c.3939+5G>A" "r.3939_3940=" "p.Gln1313_Val1314=" "28i" "0000959878" "00025828" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79Phe)" "" "0000959951" "00025828" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79Phe)" "" "0000976977" "00025352" "50" "2990" "0" "2990" "0" "c.2990dup" "r.(?)" "p.(Gly998Argfs*5)" "" "0000976977" "00025828" "50" "2972" "0" "2972" "0" "c.2972dup" "r.(?)" "p.(Gly992Argfs*5)" "" "0000976978" "00025352" "50" "2732" "0" "2732" "0" "c.2732A>C" "r.(?)" "p.(Lys911Thr)" "" "0000976978" "00025828" "50" "2714" "0" "2714" "0" "c.2714A>C" "r.(?)" "p.(Lys905Thr)" "" "0000976979" "00025352" "50" "2238" "8" "2238" "8" "c.2238+8G>C" "r.(=)" "p.(=)" "" "0000976979" "00025828" "50" "2220" "8" "2220" "8" "c.2220+8G>C" "r.(=)" "p.(=)" "" "0000976980" "00025352" "50" "2218" "0" "2218" "0" "c.2218T>C" "r.(?)" "p.(Cys740Arg)" "" "0000976980" "00025828" "50" "2200" "0" "2200" "0" "c.2200T>C" "r.(?)" "p.(Cys734Arg)" "" "0000976981" "00025352" "50" "907" "0" "907" "0" "c.907T>C" "r.(?)" "p.(Cys303Arg)" "" "0000976981" "00025828" "50" "889" "0" "889" "0" "c.889T>C" "r.(?)" "p.(Cys297Arg)" "" "0001029756" "00025828" "30" "3398" "10" "3398" "10" "c.3398+10C>G" "r.(?)" "p.(?)" "" "0001035472" "00025352" "50" "3250" "9" "3250" "9" "c.3250+9T>C" "r.(=)" "p.(=)" "" "0001035472" "00025828" "50" "3232" "9" "3232" "9" "c.3232+9T>C" "r.(=)" "p.(=)" "" "0001035473" "00025352" "30" "877" "-4" "877" "-4" "c.877-4C>G" "r.spl?" "p.?" "" "0001035473" "00025828" "30" "876" "562" "876" "562" "c.876+562C>G" "r.(=)" "p.(=)" "" "0001035474" "00025352" "50" "781" "-8" "781" "-8" "c.781-8C>A" "r.(=)" "p.(=)" "" "0001035474" "00025828" "50" "781" "-8" "781" "-8" "c.781-8C>A" "r.(=)" "p.(=)" "" "0001035475" "00025352" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79Phe)" "" "0001035475" "00025828" "50" "235" "0" "235" "0" "c.235C>T" "r.(?)" "p.(Leu79Phe)" "" "0001052490" "00025352" "70" "4095" "6357" "4095" "6360" "c.4095+6357_4095+6360dup" "r.(=)" "p.(=)" "" "0001052490" "00025828" "70" "10434" "0" "10437" "0" "c.*6327_*6330dup" "r.(=)" "p.(=)" "" "0001052491" "00025352" "50" "4095" "4570" "4095" "4570" "c.4095+4570C>T" "r.(=)" "p.(=)" "" "0001052491" "00025828" "50" "8647" "0" "8647" "0" "c.*4540C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000208927" "0000438960" "0000210100" "0000441269" "0000210101" "0000441270" "0000210102" "0000441271" "0000210102" "0000441272" "0000210103" "0000441273" "0000210103" "0000441274" "0000295149" "0000651838" "0000319173" "0000701837" "0000362717" "0000763091" "0000375325" "0000786666" "0000375325" "0000786681" "0000436112" "0000922453" "0000449535" "0000959878" "0000449536" "0000959951"