### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MBD5) # 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}}" "MBD5" "methyl-CpG binding domain protein 5" "2" "q23.2" "unknown" "NG_017003.1" "UD_132084568463" "" "https://www.LOVD.nl/MBD5" "" "1" "20444" "55777" "611472" "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/MBD5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-07 17:37:09" "00000" "2025-07-08 13:22:38" ## 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}}" "00025942" "MBD5" "transcript variant 1 (removed from reference sequence)" "000" "NM_001378120.1" "" "NP_001365049.1" "" "" "MANE select" "-1518" "9214" "5184" "1" "1" "00006" "2024-09-06 10:08:49" "" "" ## 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" "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" "00668" "KLEFS" "Kleefstra syndrome (KLEFS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00792" "MRD1" "mental retardation, autosomal dominant, type 1 (MRD-1)" "AD" "156200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04225" "-" "neurodegeneration" "" "" "" "" "" "00006" "2015-03-13 20:14:29" "" "" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "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}}" "MBD5" "00139" "MBD5" "00792" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00080969" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00147129" "" "" "" "1" "" "02357" "{PMID:Han 2018:30631761}" "" "" "" "Korea" "" "0" "" "" "" "30631761-Pat46_S3" "00266386" "" "" "" "2" "" "00006" "{PMID:Milani 2019:31630790}" "2-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "United States" "" "0" "" "" "" "Fam1PatVI5" "00292252" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292253" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292254" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301085" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00302780" "" "" "" "1" "" "00006" "{PMID:Hamdan 2015:25356899}" "" "M" "" "Canada" "" "0" "" "" "" "79.65" "00303102" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "T1898" "00308032" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat11" "00362732" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "178965" "00374780" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1788" "00374781" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4058" "00438303" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat21" "00451703" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00453017" "" "" "" "1" "" "00006" "{PMID:Kleefstra 2012:22726846}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "" "" "0" "" "" "" "KS78" "00453475" "" "" "" "3" "" "04409" "{PMID:Xiao 2024:39300495}" "" "M" "no" "China" "" "0" "" "" "Chinese" "OGM_P40" "00459432" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00464317" "" "" "" "1" "" "04409" "" "" "M" "no" "China" "" "" "" "" "Chinese" "R126" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00080969" "00792" "00147129" "05162" "00266386" "00198" "00292252" "00198" "00292253" "00198" "00292254" "00198" "00301085" "00198" "00302780" "00139" "00303102" "00344" "00308032" "00198" "00362732" "00792" "00374780" "00198" "00374781" "00198" "00438303" "04270" "00451703" "05611" "00453017" "00668" "00453475" "04225" "00459432" "05611" "00464317" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 00668, 00792, 04225, 04270, 05162, 05611 ## Count = 16 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060538" "00792" "00080969" "01758" "Isolated (sporadic)" "" "Mental retardation, autosomal dominant 1 (OMIM:156200)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000171227" "05162" "00147129" "02357" "Familial, autosomal dominant" "" "developmental delay, intellectual disability, epilepsy, autism spectrum disorder" "" "" "" "" "" "" "" "" "" "" "MRD-1" "developmental delay" "" "0000204155" "00198" "00266386" "00006" "Familial, autosomal recessive" "6y5m" "born at term; OFC birth 32.5 (SD-1.8); OFC 44.5 (SD-5.0); narrow forehead, upslanting palpebral fissures, thick eyebrows, bulbous nose, prominent ear, smooth philtrum, thin upper lip, widened and separated teeth; truncal hypotonia; no spasticity; myopia; normal auditory; delayed motor skills; delayed language; autistic features; 6y9m-onset generalized seizures; 6y6m-EEG continuous slow background activity and frequent multifocal epileptiform discharges; 21m-MRI brain pachygyria, thin corpus callosum, mild cerebellar volume loss" "" "" "" "" "" "" "" "" "" "" "" "microcephaly, DD, pachygyria" "" "0000228390" "00198" "00301085" "01164" "Unknown" "" "Focal myoclonic seizures (HP:0011166); Seizures (HP:0001250); Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229862" "00139" "00302780" "00006" "Isolated (sporadic)" "14y" "severe intellectual disability; no speech; not walking; epilepsy; no autistic features; no microcephaly; no macrocephaly; MRI brain myelination delay, thin corpus callosum, mild ventriculomegaly; hypotonic; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; mild sensorineural hearling loss on left" "" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230186" "00344" "00303102" "00006" "Isolated (sporadic)" "20y" "seizures tonic-clonic (6m), absence, focal dyscognitive seizures, focal, tonic; EEG generalised polyspike wave, multi-focal discharges, diffuse slowing; development prior to seizures delayed; Severe intellectual disability, autism spectrum disorder, no regression" "" "" "" "" "" "" "" "" "" "" "MRD1" "epileptic encephalopathy" "" "0000233458" "00198" "00308032" "00006" "Isolated (sporadic)" "" "severe global developmental delay, microcephaly, autism, stereotypes" "" "" "" "" "" "" "" "" "" "" "MRD1" "developmental delay" "" "0000258102" "00792" "00362732" "01164" "Unknown" "01y" "Seizure, Encephalopathy" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000269990" "00198" "00374780" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder, intellectual disability" "" "0000269991" "00198" "00374781" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000328207" "04270" "00438303" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0001281 tetany" "3y10m" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000340365" "05611" "00451703" "03544" "Isolated (sporadic)" "" "HP:0001344, HP:0007367, HP:0100021, HP:0010864, HP:0000252, HP:0001250, HP:0001257" "" "" "" "" "" "" "" "" "" "" "MRD1" "complex neurodevelopmental disorder" "" "0000341661" "00668" "00453017" "00006" "Isolated (sporadic)" "" "intellectual disability; childhood hypotonia; no microcephaly; short stature; no overweight; brachycephaly; midface hypoplasia; coarse facies; hypertelorism; synophrys; arched eyebrows; short nose; anteverted nostrils; no macroglossia (protruding tongue); tented and cupid-bowed upper lip; thick and everted lower lip; no pointed chin; no dysplastic ear helices; no brachydactyly; no cardiac anomaly; no renal anomaly; behavioral problems; no hearing loss (sensorineural); seizures" "" "" "" "" "" "" "" "" "" "" "MRD1" "Kleefstra syndrome phenotypic spectrum" "" "0000342139" "01117" "00453475" "04409" "Isolated (sporadic)" "02y" "The patient is a developmentally delayed male aged 6 years and 4 months. He is the second child born at full term with a birth weight of 3.2 kg (50th percentile). There is no history of birth asphyxia. While gross motor development appears normal, his speech remains delayed - he was able to say \"dad\" and \"mom\" at the age of two, and he still spoke mostly simple words and showed limited understanding of instructions at 6 years old. Physical examination revealed a height of 115 cm (15th-50th percentile), a weight of 21 kg (50th percentile), and a head circumference of 51.8 cm (50th percentile). Magnetic resonance imaging (MRI) of the brain showed no apparent abnormalities. Intelligence testing using the WISC-R indicated a language score of 56, an operational score of 55, and a total IQ of 48." "" "" "07y" "" "luoxiaomei" "" "" "" "" "" "Intellectual developmental disorder, autosomal dominant 1" "mental retardation" "" "0000347508" "05611" "00459432" "03544" "Familial" "" "HP:0001263, HP:0010864, HP:0000717, HP:0000750, HP:0007018, HP:0025406, HP:0000271, HP:0002197" "" "" "" "" "" "" "" "" "" "" "MRD1" "complex neurodevelopmental disorder" "" "0000350380" "00139" "00464317" "04409" "Isolated (sporadic)" "06y04m" "Intellectual disability, language and motor developmental delay." "" "" "" "" "" "" "" "" "" "" "mental retardation" "mental retardation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081081" "00080969" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000147984" "00147129" "1" "02357" "02357" "2018-01-02 11:07:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000267512" "00266386" "1" "00006" "00006" "2019-10-25 13:06:56" "" "" "arraySNP;SEQ;SEQ-NG" "DNA" "" "WES" "0000293420" "00292252" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293421" "00292253" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293422" "00292254" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302207" "00301085" "1" "01164" "01164" "2020-05-07 10:01:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000303906" "00302780" "1" "00006" "00006" "2020-06-01 10:33:11" "" "" "SEQ-NG" "DNA" "" "WES" "0000304226" "00303102" "1" "00006" "00006" "2020-06-06 19:15:13" "" "" "SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000309176" "00308032" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000363960" "00362732" "1" "01164" "01164" "2021-04-23 11:36:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000375974" "00374780" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375975" "00374781" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000439785" "00438303" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453307" "00451703" "1" "03544" "03544" "2024-07-02 07:05:47" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000454628" "00453017" "1" "00006" "00006" "2024-08-14 10:39:18" "" "" "SEQ-NG;SEQ" "DNA" "" "gene panel" "0000455089" "00453475" "1" "04409" "04409" "2024-09-05 11:22:15" "" "" "OM" "DNA" "whole blood" "Xinhua Hospital" "0000461057" "00459432" "1" "03544" "03544" "2024-12-29 10:40:49" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000465948" "00464317" "1" "04409" "04409" "2025-03-03 05:13:50" "" "" "SEQ-NG-RNA" "RNA" "whole blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000081081" "MBD5" "0000147984" "MBD5" "0000267512" "TUBGCP2" "0000303906" "MBD5" "0000304226" "MBD5" "0000309176" "MBD5" "0000363960" "MBD5" "0000375974" "MBD5" "0000375975" "MBD5" "0000455089" "MBD5" "0000465948" "MBD5" ## 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}}" "0000130167" "0" "70" "2" "149221379" "149221392" "del" "0" "01758" "MBD5_000001" "g.149221379_149221392del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.148463810_148463823del" "" "likely pathogenic" "ACMG" "0000241266" "11" "90" "2" "149221345" "149221346" "del" "0" "02357" "MBD5_000002" "g.149221345_149221346del" "" "{PMID:Han 2018:30631761}" "" "254_255delGA" "" "Germline" "yes" "" "0" "" "" "g.148463776_148463777del" "" "pathogenic" "" "0000598578" "0" "50" "2" "149067292" "149567481" "dup" "0" "00006" "EPC2_000003" "g.(149030000_149067292)_(149567481_149600000)dup" "" "{PMID:Milani 2019:31630790}" "" "chr2:149,067,292-149,567,481dup" "500 kb duplication including MBD5 dominantly associated with ID, dysmorphism, language impairments, infantile\r\nhypotonia, gross motor delay and autistic features" "De novo" "-" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000650109" "1" "50" "2" "149221327" "149221327" "subst" "0.00058238" "03575" "MBD5_000062" "g.149221327G>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs34995577}" "Germline" "" "rs34995577" "0" "" "" "g.148463758G>A" "" "VUS" "" "0000650110" "1" "50" "2" "149240765" "149240765" "subst" "0.000662418" "03575" "MBD5_000020" "g.149240765G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs116207524}" "Germline" "" "rs116207524" "0" "" "" "g.148483196G>A" "" "VUS" "" "0000650111" "1" "50" "2" "149243509" "149243509" "subst" "0.00049223" "03575" "MBD5_000063" "g.149243509A>G" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "NM_018328.4:c.3044A>G" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs143028540}" "Germline" "" "rs143028540" "0" "" "" "g.148485940A>G" "" "VUS" "" "0000665319" "0" "50" "2" "149227143" "149227143" "subst" "0" "01164" "MBD5_000065" "g.149227143C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.148469574C>T" "" "VUS" "" "0000667308" "0" "70" "2" "149221431" "149221438" "del" "0" "00006" "MBD5_000066" "g.149221431_149221438del" "" "{PMID:Hamdan 2015:25356899}" "" "" "" "De novo" "" "" "0" "" "" "g.148463862_148463869del" "" "pathogenic (dominant)" "" "0000667654" "0" "90" "2" "149225981" "149225981" "del" "0" "00006" "MBD5_000067" "g.(149225981del)" "" "{PMID:Carvill 2013:23708187}" "" "Thr157Glnfs*4" "Variant Error [ESYNTAX]: This genomic variant has an error (char 25: expected one of \')\', \'_\', or a digit). Please fix this entry and then remove this message." "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000683676" "0" "90" "2" "149130689" "149227038" "del" "0" "00006" "MBD5_000070" "g.(?_149130689)_(149227038_?)del" "" "{PMID:Mahler 2019:31056085}" "" "chr.2:149,130,689-149,227,038" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000764671" "0" "70" "2" "149216401" "149216401" "subst" "0" "01164" "MBD5_000074" "g.149216401G>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.148458832G>A" "" "likely pathogenic (dominant)" "ACMG" "0000787325" "0" "50" "2" "149226357" "149226357" "subst" "4.07037E-6" "00006" "MBD5_000075" "g.149226357G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs759201974" "0" "" "" "g.148468788G>A" "" "VUS" "" "0000787326" "0" "50" "2" "149227547" "149227547" "subst" "0" "00006" "MBD5_000076" "g.149227547G>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.148469978G>C" "" "VUS" "" "0000857703" "0" "50" "2" "149240682" "149240682" "subst" "2.46759E-5" "01943" "MBD5_000083" "g.149240682G>A" "" "" "" "MBD5(NM_018328.4):c.2522G>A (p.G841D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148483113G>A" "" "VUS" "" "0000857704" "0" "50" "2" "149243408" "149243408" "subst" "4.06213E-6" "01943" "MBD5_000084" "g.149243408A>T" "" "" "" "MBD5(NM_018328.4):c.2943A>T (p.Q981H, p.(Gln981His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148485839A>T" "" "VUS" "" "0000883749" "0" "50" "2" "149226653" "149226653" "subst" "3.25267E-5" "02325" "MBD5_000086" "g.149226653T>C" "" "" "" "MBD5(NM_018328.5):c.1141T>C (p.F381L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148469084T>C" "" "VUS" "" "0000883750" "0" "50" "2" "149226888" "149226888" "subst" "0" "02325" "MBD5_000087" "g.149226888G>A" "" "" "" "MBD5(NM_018328.5):c.1376G>A (p.R459K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148469319G>A" "" "VUS" "" "0000883752" "0" "30" "2" "149247043" "149247043" "subst" "0.000487397" "02327" "MBD5_000088" "g.149247043C>T" "" "" "" "MBD5(NM_018328.4):c.3143C>T (p.(Thr1048Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148489474C>T" "" "likely benign" "" "0000883753" "0" "30" "2" "149247255" "149247255" "subst" "2.84287E-5" "02325" "MBD5_000089" "g.149247255G>T" "" "" "" "MBD5(NM_018328.5):c.3355G>T (p.A1119S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148489686G>T" "" "likely benign" "" "0000923292" "0" "50" "2" "149221350" "149221350" "subst" "4.07329E-6" "02325" "MBD5_000091" "g.149221350G>T" "" "" "" "MBD5(NM_018328.5):c.259G>T (p.A87S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148463781G>T" "" "VUS" "" "0000923293" "0" "70" "2" "149226529" "149226529" "del" "0" "02327" "MBD5_000092" "g.149226529del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148468960del" "" "likely pathogenic" "" "0000928268" "0" "90" "2" "149226021" "149226021" "subst" "0" "02327" "MBD5_000093" "g.149226021T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148468452T>G" "" "pathogenic" "" "0000928269" "0" "30" "2" "149226746" "149226746" "subst" "4.47777E-5" "02325" "MBD5_000094" "g.149226746G>A" "" "" "" "MBD5(NM_018328.5):c.1234G>A (p.V412I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148469177G>A" "" "likely benign" "" "0000935914" "0" "90" "2" "149226062" "149226062" "subst" "0" "00006" "MBD5_000095" "g.149226062C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "ACMG PVS1,PM2,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.148468493C>T" "" "pathogenic (dominant)" "ACMG" "0000974306" "0" "50" "2" "149221476" "149221476" "subst" "1.22322E-5" "02325" "MBD5_000099" "g.149221476G>A" "" "" "" "MBD5(NM_018328.5):c.385G>A (p.G129R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148463907G>A" "" "VUS" "" "0000974307" "0" "50" "2" "149226918" "149226918" "subst" "0" "01804" "MBD5_000100" "g.149226918A>T" "" "" "" "MBD5(NM_001378120.1):c.1406A>T (p.(His469Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148469349A>T" "" "VUS" "" "0000974308" "0" "30" "2" "149227710" "149227710" "subst" "1.22222E-5" "01804" "MBD5_000101" "g.149227710C>T" "" "" "" "MBD5(NM_001378120.1):c.2198C>T (p.(Ser733Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148470141C>T" "" "likely benign" "" "0000974309" "0" "30" "2" "149260012" "149260012" "subst" "2.03166E-5" "01804" "MBD5_000102" "g.149260012C>A" "" "" "" "MBD5(NM_001378120.1):c.4970C>A (p.(Pro1657His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148502443C>A" "" "likely benign" "" "0000987894" "0" "70" "2" "149221469" "149221469" "del" "0" "03544" "MBD5_000103" "g.149221469del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.148463900del" "" "likely pathogenic" "ACMG" "0000989511" "0" "90" "2" "149220187" "149220187" "del" "0" "00006" "MBD5_000104" "g.149220187del" "" "{PMID:Kleefstra 2012:22726846}" "" "" "" "De novo" "" "" "0" "" "" "g.148462618del" "" "pathogenic (dominant)" "" "0000991651" "0" "70" "2" "149226442" "149226442" "del" "0" "01804" "MBD5_000106" "g.149226442del" "" "" "" "MBD5(NM_018328.4):c.930delG (p.(Met310fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148468873del" "" "likely pathogenic" "" "0000991652" "0" "30" "2" "149227964" "149227964" "subst" "1.63761E-5" "01804" "MBD5_000107" "g.149227964A>G" "" "" "" "MBD5(NM_018328.4):c.2452A>G (p.(Thr818Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148470395A>G" "" "likely benign" "" "0000991653" "0" "50" "2" "149240765" "149240765" "subst" "1.62557E-5" "01804" "MBD5_000108" "g.149240765G>T" "" "" "" "MBD5(NM_018328.4):c.2605G>T (p.(Val869Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148483196G>T" "" "VUS" "" "0000991654" "0" "30" "2" "149240949" "149240949" "subst" "2.44025E-5" "01804" "MBD5_000109" "g.149240949A>C" "" "" "" "MBD5(NM_018328.4):c.2789A>C (p.(Gln930Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148483380A>C" "" "likely benign" "" "0000991655" "0" "50" "2" "149243325" "149243325" "subst" "0" "01804" "MBD5_000110" "g.149243325A>G" "" "" "" "MBD5(NM_018328.4):c.2860A>G (p.(Ile954Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148485756A>G" "" "VUS" "" "0000991656" "0" "50" "2" "149243408" "149243408" "subst" "4.06213E-6" "01804" "MBD5_000084" "g.149243408A>T" "" "" "" "MBD5(NM_018328.4):c.2943A>T (p.Q981H, p.(Gln981His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148485839A>T" "" "VUS" "" "0000991657" "0" "30" "2" "149247043" "149247043" "subst" "0.000487397" "01804" "MBD5_000088" "g.149247043C>T" "" "" "" "MBD5(NM_018328.4):c.3143C>T (p.(Thr1048Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148489474C>T" "" "likely benign" "" "0000991658" "0" "30" "2" "149247598" "149247598" "subst" "0" "01804" "MBD5_000111" "g.149247598A>G" "" "" "" "MBD5(NM_018328.4):c.3698A>G (p.(Asn1233Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148490029A>G" "" "likely benign" "" "0000991659" "0" "50" "2" "149247783" "149247783" "subst" "0" "01804" "MBD5_000112" "g.149247783C>A" "" "" "" "MBD5(NM_018328.4):c.3883C>A (p.(Pro1295Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148490214C>A" "" "VUS" "" "0000991660" "0" "50" "2" "149267689" "149267689" "subst" "0" "01804" "MBD5_000113" "g.149267689C>A" "" "" "" "MBD5(NM_018328.4):c.4398C>A (p.(Asp1466Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148510120C>A" "" "VUS" "" "0001007090" "0" "90" "2" "148724343" "148858380" "del" "0" "04409" "MBD5_000114" "g.(?_148724343)_(148858380_?)del" "" "{PMID:Xiao 2024:39300495}" "" "NM_001378120: del noncoding ex1" "" "De novo" "yes" "" "0" "" "" "g.(?_147966774)_(148100811_?)del" "" "pathogenic" "ACMG" "0001013378" "0" "70" "2" "149226912" "149226912" "subst" "0" "02327" "ORC4_000009" "g.149226912C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001020148" "0" "70" "2" "149226485" "149226485" "subst" "0" "03544" "MBD5_000115" "g.149226485C>T" "" "" "" "" "" "Germline" "yes" "rs1553518509" "0" "" "" "g.148468916C>T" "{CV:521004}" "likely pathogenic" "ACMG" "0001029735" "0" "90" "2" "148724343" "148858380" "del" "0" "04409" "MBD5_000116" "g.148724343_148858380del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.147966774_148100811del" "" "pathogenic (dominant)" "ACMG" "0001032386" "0" "30" "2" "148917735" "148917735" "subst" "0" "01804" "ORC4_000011" "g.148917735G>A" "" "" "" "MBD5(NM_001378120.1):c.-924-18534G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032387" "0" "30" "2" "148997287" "148997288" "dup" "0" "01804" "ORC4_000012" "g.148997287_148997288dup" "" "" "" "MBD5(NM_001378120.1):c.-680+6323_-680+6324dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032388" "0" "30" "2" "149221497" "149221497" "subst" "0" "01804" "ORC4_000013" "g.149221497T>C" "" "" "" "MBD5(NM_001378120.1):c.397+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032389" "0" "30" "2" "149241268" "149241268" "subst" "0" "01804" "ORC4_000014" "g.149241268G>T" "" "" "" "MBD5(NM_001378120.1):c.3108G>T (p.(Leu1036Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032390" "0" "30" "2" "149248059" "149248059" "subst" "2.43673E-5" "01804" "ORC4_000015" "g.149248059G>A" "" "" "" "MBD5(NM_001378120.1):c.4858G>A (p.(Asp1620Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045712" "0" "30" "2" "149247340" "149247340" "subst" "3.24947E-5" "02325" "ORC4_000016" "g.149247340G>A" "" "" "" "MBD5(NM_018328.5):c.3440G>A (p.R1147Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MBD5 ## Count = 50 "{{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}}" "0000130167" "00025942" "70" "288" "0" "301" "0" "c.288_301del" "r.(?)" "p.(Lys98Ter)" "" "0000241266" "00025942" "90" "254" "0" "255" "0" "c.254_255del" "r.(?)" "p.(Arg85AsnfsTer6)" "8" "0000598578" "00025942" "50" "" "0" "" "0" "c.-997_*536{2}" "r.0?" "p.0?" "_1_15_" "0000650109" "00025942" "50" "236" "0" "236" "0" "c.236G>A" "r.(?)" "p.(Gly79Glu)" "" "0000650110" "00025942" "50" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Val869Ile)" "" "0000650111" "00025942" "50" "3743" "0" "3743" "0" "c.3743A>G" "r.(?)" "p.(Gln1248Arg)" "" "0000665319" "00025942" "50" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Ala544Val)" "" "0000667308" "00025942" "70" "340" "0" "347" "0" "c.340_347del" "r.(?)" "p.(Lys114GlyfsTer35)" "" "0000667654" "00025942" "90" "469" "0" "469" "0" "c.(469del)" "r.(?)" "p.(Thr157Glnfs*4)" "" "0000683676" "00025942" "90" "-557" "30784" "1526" "0" "c.(?_-557+30784)_(1526_?)del" "r.?" "p.0?" "" "0000764671" "00025942" "70" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Trp25Ter)" "" "0000787325" "00025942" "50" "845" "0" "845" "0" "c.845G>A" "r.(?)" "p.(Gly282Asp)" "9" "0000787326" "00025942" "50" "2035" "0" "2035" "0" "c.2035G>C" "r.(?)" "p.(Ala679Pro)" "9" "0000857703" "00025942" "50" "2522" "0" "2522" "0" "c.2522G>A" "r.(?)" "p.(Gly841Asp)" "" "0000857704" "00025942" "50" "3642" "0" "3642" "0" "c.3642A>T" "r.(?)" "p.(Gln1214His)" "" "0000883749" "00025942" "50" "1141" "0" "1141" "0" "c.1141T>C" "r.(?)" "p.(Phe381Leu)" "" "0000883750" "00025942" "50" "1376" "0" "1376" "0" "c.1376G>A" "r.(?)" "p.(Arg459Lys)" "" "0000883752" "00025942" "30" "3842" "0" "3842" "0" "c.3842C>T" "r.(?)" "p.(Thr1281Ile)" "" "0000883753" "00025942" "30" "4054" "0" "4054" "0" "c.4054G>T" "r.(?)" "p.(Ala1352Ser)" "" "0000923292" "00025942" "50" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Ala87Ser)" "" "0000923293" "00025942" "70" "1017" "0" "1017" "0" "c.1017del" "r.(?)" "p.(Pro340Leufs*12)" "" "0000928268" "00025942" "90" "509" "0" "509" "0" "c.509T>G" "r.(?)" "p.(Leu170*)" "" "0000928269" "00025942" "30" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Val412Ile)" "" "0000935914" "00025942" "90" "550" "0" "550" "0" "c.550C>T" "r.(?)" "p.(Gln184Ter)" "" "0000974306" "00025942" "50" "385" "0" "385" "0" "c.385G>A" "r.(?)" "p.(Gly129Arg)" "" "0000974307" "00025942" "50" "1406" "0" "1406" "0" "c.1406A>T" "r.(?)" "p.(His469Leu)" "" "0000974308" "00025942" "30" "2198" "0" "2198" "0" "c.2198C>T" "r.(?)" "p.(Ser733Phe)" "" "0000974309" "00025942" "30" "4970" "0" "4970" "0" "c.4970C>A" "r.(?)" "p.(Pro1657His)" "" "0000987894" "00025942" "70" "378" "0" "378" "0" "c.378del" "r.(?)" "p.(Ser127ValfsTer11)" "8" "0000989511" "00025942" "90" "150" "0" "150" "0" "c.150del" "r.(?)" "p.(Thr52HisfsTer31)" "" "0000991651" "00025942" "70" "930" "0" "930" "0" "c.930del" "r.(?)" "p.(Met310Ilefs*42)" "" "0000991652" "00025942" "30" "2452" "0" "2452" "0" "c.2452A>G" "r.(?)" "p.(Thr818Ala)" "" "0000991653" "00025942" "50" "2605" "0" "2605" "0" "c.2605G>T" "r.(?)" "p.(Val869Phe)" "" "0000991654" "00025942" "30" "2789" "0" "2789" "0" "c.2789A>C" "r.(?)" "p.(Gln930Pro)" "" "0000991655" "00025942" "50" "3559" "0" "3559" "0" "c.3559A>G" "r.(?)" "p.(Ile1187Val)" "" "0000991656" "00025942" "50" "3642" "0" "3642" "0" "c.3642A>T" "r.(?)" "p.(Gln1214His)" "" "0000991657" "00025942" "30" "3842" "0" "3842" "0" "c.3842C>T" "r.(?)" "p.(Thr1281Ile)" "" "0000991658" "00025942" "30" "4397" "0" "4397" "0" "c.4397A>G" "r.(?)" "p.(Asn1466Ser)" "" "0000991659" "00025942" "50" "4582" "0" "4582" "0" "c.4582C>A" "r.(?)" "p.(Pro1528Thr)" "" "0000991660" "00025942" "50" "5097" "0" "5097" "0" "c.5097C>A" "r.(?)" "p.(Asp1699Glu)" "" "0001007090" "00025942" "90" "-8388608" "0" "-924" "-77889" "c.-100055234_-924-77889del" "r.0?" "p.0?" "_1_2i" "0001013378" "00025942" "70" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Ser467*)" "" "0001020148" "00025942" "70" "973" "0" "973" "0" "c.973C>T" "r.(973C>T)" "p.(Arg325*)" "8" "0001029735" "00025942" "70" "-55234" "0" "-924" "-77889" "c.-55234_-924-77889del" "r.0?" "p.0?" "" "0001032386" "00025942" "30" "-924" "-18534" "-924" "-18534" "c.-924-18534G>A" "r.(=)" "p.(=)" "" "0001032387" "00025942" "30" "-680" "6323" "-680" "6324" "c.-680+6323_-680+6324dup" "r.(=)" "p.(=)" "" "0001032388" "00025942" "30" "397" "9" "397" "9" "c.397+9T>C" "r.(=)" "p.(=)" "" "0001032389" "00025942" "30" "3108" "0" "3108" "0" "c.3108G>T" "r.(?)" "p.(Leu1036Phe)" "" "0001032390" "00025942" "30" "4858" "0" "4858" "0" "c.4858G>A" "r.(?)" "p.(Asp1620Asn)" "" "0001045712" "00025942" "30" "4139" "0" "4139" "0" "c.4139G>A" "r.(?)" "p.(Arg1380Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000081081" "0000130167" "0000147984" "0000241266" "0000267512" "0000598578" "0000293420" "0000650109" "0000293421" "0000650110" "0000293422" "0000650111" "0000302207" "0000665319" "0000303906" "0000667308" "0000304226" "0000667654" "0000309176" "0000683676" "0000363960" "0000764671" "0000375974" "0000787325" "0000375975" "0000787326" "0000439785" "0000935914" "0000453307" "0000987894" "0000454628" "0000989511" "0000455089" "0001007090" "0000461057" "0001020148" "0000465948" "0001029735"