### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHAMP1) # 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}}" "CHAMP1" "chromosome alignment maintaining phosphoprotein 1" "13" "q34" "unknown" "NC_000013.10" "UD_136086211970" "" "http://www.LOVD.nl/CHAMP1" "" "1" "20311" "283489" "616327" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/CHAMP1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-08-24 12:58:29" "00006" "2025-08-12 15:56:51" ## 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}}" "00005067" "CHAMP1" "transcript variant 1" "001" "NM_032436.2" "" "NP_115812.1" "" "" "" "-332" "3486" "2439" "115079965" "115092803" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06213" "NEDHILD;MRD40" "neurodevelopmental disorder with hypotonia, impaired language, dysmorphic features (MRD40)" "AD" "616579" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2023-10-23 16:08:01" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CHAMP1" "06213" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00047291" "" "" "" "1" "" "01296" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "M" "no" "Germany" "" "0" "" "" "Germany" "" "00047292" "" "" "" "1" "" "01296" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00047293" "" "" "" "1" "" "01296" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "M" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00047294" "" "" "" "1" "" "01296" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00047295" "" "" "" "1" "" "01296" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "F" "no" "Germany" "" "0" "" "" "German" "" "00050147" "" "" "" "1" "" "01197" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050148" "" "" "" "1" "" "01197" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "healthy younger brother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050149" "" "" "" "1" "" "01197" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "" "M" "no" "United States" "" "0" "" "" "" "" "00050150" "" "" "" "1" "" "01197" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "healthy younger sister" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00050151" "" "" "" "1" "" "01197" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}, {PMID:Hamdan 2017:29100083}" "" "F" "no" "United States" "" "0" "" "" "" "Fam3PatII1;1242500" "00050152" "" "" "" "1" "" "01197" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "" "M" "no" "France" "" "0" "" "" "" "" "00050484" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050523" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00308039" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat18" "00320139" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00435547" "" "" "" "1" "" "00006" "{PMID:Rots 2023:37196654}" "family, has father" "M" "" "" "" "0" "" "" "" "Pat84" "00448200" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat45" "00466217" "" "" "" "1" "" "01164" "" "" "M" "no" "Bosnia and Herzegovina" "" "0" "" "" "" "342127" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00047291" "00139" "00047292" "00139" "00047293" "00139" "00047294" "00139" "00047295" "00139" "00050147" "00139" "00050148" "00139" "00050149" "00139" "00050150" "00139" "00050151" "00139" "00050152" "00139" "00050484" "00198" "00050523" "00198" "00308039" "00198" "00320139" "00198" "00435547" "05611" "00448200" "00198" "00466217" "06213" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 05611, 06213 ## Count = 18 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{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}}" "0000034716" "00139" "00047291" "01296" "Isolated (sporadic)" "04y" "OFC 4y 48cm(-2.5SD); no speech, muscular hypotonia, walk(support)-4y, friendly behaviour, orofacial hypotonia, long face, no epicanthic folds, no upslanting palpebral fissures, short philtrum, open-mouth (salivation), thin/tented upper lip, everted lower lip, high arched palate, pointed chin, no low set ears, strabismus, hyperopia,joint hypermobility, neanatal feeding difficulties, umbilical hernia, decreased pain sensation, no recurrent upper air tract infections; brain-MRI mild brain atrophy, cerebellar cortical dysplasia; birth 40w; weight 3520/-0.4; length 52/-0.2; OFC 33/-2.0; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000034717" "00139" "00047292" "01296" "Unknown" "03y" "no speech, muscular hypotonia, walk(support)-3y, friendly behaviour, no orofacial hypotonia, no long face, epicanthic folds, upslanting palpebral fissures, short philtrum, no open-mouth, tented upper lip, everted lower lip, high arched palate, pointed chin, low set ears, no strabismus, no joint hypermobility, neanatal feeding difficulties, umbilical hernia, no decreased pain sensation, recurrent upper air tract infections; brain-MRI slightly delayed myelination; birth 39w; weight 3,580/0.2;; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "0000034718" "00139" "00047293" "01296" "Unknown" "18y" "muscular hypotonia, walk(support)-2y6m, friendly behaviour, orofacial hypotonia, long face, no epicanthic folds, upslanting palpebral fissures, short philtrum, open-mouth (salvation), thin/tented upper lip, everted lower lip, no pointed chin, low set ears, strabismus, hyperopia, joint hypermobility, neanatal feeding difficulties, no umbilical hernia, decreased pain sensation, recurrent upper air tract infections; 1y-brain-MRI normal; last examination weight 50/-2.7, lebgth 160/-2.9, OFC 52.2/-3.1; birth 39w; weight 3100/-0.9; length 49/-1.3; OFC (6w) 35.6/-2.1; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); speech delay (HP:0000750); dysarthria (HP:0001260)" "" "" "" "" "" "" "" "" "" "" "" "0000034719" "00139" "00047294" "01296" "Unknown" "03y" "muscular hypotonia, walk(support)-1y6m, friendly behaviour, orofacial hypotonia, no long face, epicanthic folds, no upslanting palpebral fissures, short philtrum, open-mouth (salvation), thin/tented upper lip, everted lower lip, high arched palate, no pointed chin, no low set ears, no strabismus, hyperopia, no joint hypermobility, neanatal feeding difficulties, no umbilical hernia, decreased pain sensation, recurrent upper air tract infections; 3m-brain-MRI normal; birth 37w; weight 3105/0.3; length 50/1.0; OFC 29.5/-3.1; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750); dysarthria (HP:0001260)" "" "" "" "" "" "" "" "" "" "" "" "0000034720" "00139" "00047295" "01296" "Isolated (sporadic)" "08y" "muscular hypotonia, walk(support)-1y8m, friendly behaviour, orofacial hypotonia, long face, epicanthic folds, upslanting palpebral fissures, short philtrum, open-mouth (salvation), thin/tented upper lip, everted lower lip, high arched palate, pointed chin, low set ears, no strabismus, hyperopia, no joint hypermobility, no neanatal feeding difficulties, no umbilical hernia, decreased pain sensation, no recurrent upper air tract infections; 3y-brain-MRI normal; birth 40w; weight 4100/01.5; length 53/0.6; OFC (4w) 35/-0.4; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); speech delay (HP:0000750); dysarthria (HP:0001260)" "" "" "" "" "" "" "" "" "" "" "" "0000036759" "00139" "00050147" "01197" "Isolated (sporadic)" "" "no growth failure, behavioural anomalies, no eye anomalies, no skeletal abnormalities, facial dysmorphism; birth at term; moderate intellectual disability (HP:0002342); global developmental delay (HP:0001263); severe speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000036760" "00139" "00050148" "01197" "Isolated (sporadic)" "" "no growth failure, normal behaviour, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000036761" "00139" "00050149" "01197" "Isolated (sporadic)" "" "growth failure, behavioural anomalies, no eye anomalies, no skeletal abnormalities, facial dysmorphism?; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000036762" "00139" "00050150" "01197" "Isolated (sporadic)" "" "no growth failure, normal behaviour, eye anomalies, no skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); severe speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000036763" "00139" "00050151" "01197" "Isolated (sporadic)" "" "no growth failure, behavioural anomalies, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); severe speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000036764" "00139" "00050152" "01197" "Isolated (sporadic)" "" "growth failure, normal behaviour, eye anomalies, skeletal abnormalities, facial dysmorphism; birth at term; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); no speech (HP:0001344)" "" "" "" "" "" "" "" "" "" "" "" "0000037096" "00198" "00050484" "00006" "Isolated (sporadic)" "" "intellectual disability, obstructive sleep apnea, supernumerary nipples, plagiocephaly" "" "" "" "" "" "" "" "" "" "" "" "0000037135" "00198" "00050523" "00006" "Unknown" "" "global developmental delay, joint hypermobility, abnormality of the renal collecting system, abnormality of the central nervous system, incoordination, diastasis recti" "" "" "" "" "" "" "" "" "" "" "" "0000233465" "00198" "00308039" "00006" "Isolated (sporadic)" "" "severe global developmental delay, microcephaly, muscular hypotonia" "" "" "" "" "" "" "" "" "MRD40" "developmental delay" "" "0000242185" "00198" "00320139" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Intestinal pseudo-obstruction (HP:0004389)" "" "" "" "" "" "" "" "" "" "" "" "0000325734" "05611" "00435547" "00006" "Familial" "1y2m" "see paper; ..., no complications pregnancy/delivery; birth 39w+1d; language/speech delay, babbling but no first words yet; motor delay, not walking; no behavior problems; no use psychiatric drugs; no sleep disturbances; no seizures/epilepsy; no hypotonia; no dystonia; no spasticity; no joint hypermobility; no syndactyly; no vertebral abnormalities; no abnormalities hand/foot/finger; no pectus excavatum; torticollis, lingual frenulum; prominet forehead and nasal roo, pprominent ears; no lip/cleft palate; no hypermetropia/myopia; no strabismus; normal hearing; no recurrent ear infections; no congenital heart disease; no neonatal feeding difficulties; no gastroesophageal reflux; no constipation; no skin hyperlaxity; no genitourinary abnormalities; no cryptorchidism;" "" "" "" "" "" "" "" "" "NEDCFSA" "neurodevelopmental delay" "" "0000337410" "00198" "00448200" "00006" "Isolated (sporadic)" "6y" "global developmental delay; seizure; craniosynostosis; short stature; strabismus; dysmorphic facial features;" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000351599" "06213" "00466217" "01164" "Isolated (sporadic)" "01y" "Hypotonia, Delayed gross motor development, Delayed speech and language development, Astigmatism" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000047391" "00047291" "1" "01296" "01296" "2015-08-13 17:51:20" "00006" "2015-09-26 18:58:36" "SEQ" "DNA" "whole-blood" "" "0000047392" "00047292" "1" "01296" "01296" "2015-08-13 17:55:40" "00006" "2015-09-26 18:59:08" "SEQ-NG-S" "DNA" "whole-blood" "" "0000047393" "00047293" "1" "01296" "01296" "2015-08-13 17:59:19" "" "" "SEQ-NG-I" "DNA" "whole-blood" "" "0000047394" "00047294" "1" "01296" "01296" "2015-08-13 18:01:58" "" "" "SEQ-NG-I" "DNA" "whole-blood" "" "0000047395" "00047295" "1" "01296" "01296" "2015-08-13 18:04:04" "" "" "SEQ-NG-I" "DNA" "whole-blood" "" "0000050092" "00050147" "1" "01197" "01197" "2015-09-26 21:24:44" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050093" "00050148" "1" "01197" "01197" "2015-09-26 21:24:44" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050094" "00050149" "1" "01197" "01197" "2015-09-26 21:24:44" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050095" "00050150" "1" "01197" "01197" "2015-09-26 21:24:44" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050096" "00050151" "1" "01197" "01197" "2015-09-26 21:24:44" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050097" "00050152" "1" "01197" "01197" "2015-09-26 21:24:44" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050429" "00050484" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050468" "00050523" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000309183" "00308039" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000321324" "00320139" "1" "01807" "01807" "2020-11-23 17:35:46" "00001" "2020-11-23 17:36:55" "SEQ" "DNA" "" "" "0000437026" "00435547" "1" "00006" "00006" "2023-08-03 13:47:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000449775" "00448200" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000467873" "00466217" "1" "01164" "01164" "2025-08-11 14:48:50" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000047391" "CHAMP1" "0000047392" "CHAMP1" "0000050092" "CHAMP1" "0000050093" "CHAMP1" "0000050094" "CHAMP1" "0000050095" "CHAMP1" "0000050096" "CHAMP1" "0000050097" "CHAMP1" "0000050429" "CHAMP1" "0000050468" "CHAMP1" "0000309183" "CHAMP1" "0000467873" "CHAMP1" ## 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 = 41 "{{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}}" "0000076069" "0" "70" "13" "115091183" "115091184" "del" "0" "01296" "CHAMP1_000004" "g.115091183_115091184del" "" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "1866_1867delCA" "" "De novo" "yes" "" "0" "" "" "g.114325708_114325709del" "" "likely pathogenic" "" "0000076070" "0" "70" "13" "115091085" "115091085" "subst" "0" "01296" "CHAMP1_000003" "g.115091085C>T" "" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "" "" "De novo" "yes" "" "0" "" "" "g.114325610C>T" "" "likely pathogenic" "" "0000076071" "0" "70" "13" "115090509" "115090509" "subst" "0" "01296" "CHAMP1_000002" "g.115090509C>T" "" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "" "" "De novo" "yes" "" "0" "" "" "g.114325034C>T" "" "likely pathogenic" "" "0000076072" "0" "70" "13" "115089952" "115089952" "del" "0" "01296" "CHAMP1_000001" "g.115089952del" "" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "635delC" "" "De novo" "yes" "" "0" "" "" "g.114324477del" "" "likely pathogenic" "" "0000076073" "0" "70" "13" "115090509" "115090509" "subst" "0" "01296" "CHAMP1_000002" "g.115090509C>T" "" "{PMID:Hempel 2015:26340335}, {DOI:Hempel 2015:10.1016/j.ajhg.2015.08.003}" "" "" "" "De novo" "yes" "" "0" "" "" "g.114325034C>T" "" "likely pathogenic" "" "0000077846" "0" "90" "13" "115091197" "115091197" "subst" "0" "01197" "CHAMP1_000010" "g.115091197C>G" "" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "" "" "de novo variant in patient" "De novo" "-" "" "0" "" "" "g.114325722C>G" "" "pathogenic" "" "0000077847" "0" "90" "13" "115090319" "115090319" "subst" "0" "01197" "CHAMP1_000006" "g.115090319G>A" "" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "" "" "de novo in patient" "De novo" "-" "" "0" "" "" "g.114324844G>A" "" "pathogenic" "" "0000077848" "0" "90" "13" "115091193" "115091194" "del" "0" "01197" "CHAMP1_000009" "g.115091193_115091194del" "" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}, {PMID:Hamdan 2017:29100083}" "" "1876_1877delAG" "de novo in patient; acc. Hamdan GABRB2 variant is likely pathogenic" "De novo" "-" "" "0" "" "" "g.114325718_114325719del" "" "pathogenic (!)" "" "0000077981" "0" "90" "13" "115090360" "115090360" "subst" "0" "01197" "CHAMP1_000007" "g.115090360G>A" "" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "" "" "de novo in patient" "De novo" "-" "" "0" "" "" "g.114324885G>A" "" "pathogenic" "" "0000077984" "0" "90" "13" "115090275" "115090276" "del" "0" "01197" "CHAMP1_000005" "g.115090275_115090276del" "" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "" "958_959delCC" "de novo in patient" "De novo" "-" "" "0" "" "" "g.114324800_114324801del" "" "pathogenic" "" "0000077985" "0" "90" "13" "115090806" "115090806" "subst" "0" "01197" "CHAMP1_000008" "g.115090806C>T" "" "{PMID:Isidor 2016:26751395}, {DOI:Isidor 2016:10.1002/humu.22952}" "" "" "de novo in patient" "De novo" "-" "" "0" "" "" "g.114325331C>T" "" "pathogenic" "" "0000079409" "0" "90" "13" "115090319" "115090319" "subst" "0" "00006" "CHAMP1_000006" "g.115090319G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.114324844G>A" "" "pathogenic" "" "0000079448" "0" "90" "13" "115090806" "115090806" "subst" "0" "00006" "CHAMP1_000008" "g.115090806C>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.114325331C>T" "" "pathogenic" "" "0000266756" "0" "90" "13" "115091286" "115091286" "subst" "0" "02325" "CHAMP1_000014" "g.115091286C>T" "" "" "" "CHAMP1(NM_032436.4):c.1969C>T (p.Q657*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114325811C>T" "" "pathogenic" "" "0000270074" "0" "70" "13" "115090509" "115090509" "subst" "0" "02326" "CHAMP1_000002" "g.115090509C>T" "" "" "" "CHAMP1(NM_032436.4):c.1192C>T (p.R398*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114325034C>T" "" "likely pathogenic" "" "0000323556" "0" "50" "13" "115089355" "115089355" "subst" "8.54638E-5" "01804" "CHAMP1_000011" "g.115089355G>A" "" "" "" "CHAMP1(NM_001164144.1):c.38G>A (p.(Arg13His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114323880G>A" "" "VUS" "" "0000323558" "0" "50" "13" "115090978" "115090978" "subst" "0" "01804" "CHAMP1_000013" "g.115090978C>T" "" "" "" "CHAMP1(NM_001164144.1):c.1661C>T (p.(Pro554Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114325503C>T" "" "VUS" "" "0000343012" "0" "90" "13" "115090806" "115090806" "subst" "0" "02327" "CHAMP1_000008" "g.115090806C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.114325331C>T" "" "pathogenic" "" "0000549898" "0" "10" "13" "115086579" "115086580" "del" "0" "02326" "CHAMP1_000016" "g.115086579_115086580del" "" "" "" "CHAMP1(NM_032436.4):c.-178-6_-178-5delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114321104_114321105del" "" "benign" "" "0000549899" "0" "30" "13" "115086580" "115086580" "subst" "0" "01804" "CHAMP1_000017" "g.115086580T>C" "" "" "" "CHAMP1(NM_001164144.1):c.-175-5T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114321105T>C" "" "likely benign" "" "0000549900" "0" "30" "13" "115090232" "115090232" "subst" "0.000686813" "01943" "CHAMP1_000018" "g.115090232C>T" "" "" "" "CHAMP1(NM_032436.3):c.915C>T (p.P305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114324757C>T" "" "likely benign" "" "0000549903" "0" "30" "13" "115091510" "115091510" "subst" "0.000174757" "01943" "CHAMP1_000021" "g.115091510G>A" "" "" "" "CHAMP1(NM_032436.3):c.2193G>A (p.K731=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.114326035G>A" "" "likely benign" "" "0000679731" "0" "30" "13" "115090526" "115090526" "subst" "6.09315E-5" "01943" "CHAMP1_000023" "g.115090526G>C" "" "" "" "CHAMP1(NM_032436.3):c.1209G>C (p.T403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679732" "0" "30" "13" "115090731" "115090731" "subst" "0" "01943" "CHAMP1_000024" "g.115090731T>G" "" "" "" "CHAMP1(NM_032436.3):c.1414T>G (p.S472A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679733" "0" "30" "13" "115091219" "115091219" "subst" "4.06253E-6" "01943" "CHAMP1_000025" "g.115091219T>C" "" "" "" "CHAMP1(NM_032436.3):c.1902T>C (p.S634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683683" "0" "90" "13" "115091182" "115091183" "del" "0" "00006" "CHAMP1_000026" "g.115091182_115091183del" "" "{PMID:Mahler 2019:31056085}" "" "1865_1866delAC" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000704154" "0" "90" "13" "115090394" "115090394" "subst" "0" "01807" "CHAMP1_000027" "g.115090394G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000708304" "0" "70" "13" "115090286" "115090286" "subst" "0" "03779" "CHAMP1_000028" "g.115090286G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000724371" "0" "30" "13" "115089837" "115089839" "del" "0" "02325" "CHAMP1_000029" "g.115089837_115089839del" "" "" "" "CHAMP1(NM_001164144.3):c.520_522delCCT (p.P174del), CHAMP1(NM_032436.2):c.520_522delCCT (p.(Pro174del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724372" "0" "90" "13" "115090318" "115090318" "subst" "0" "02329" "CHAMP1_000019" "g.115090318G>A" "" "" "" "CHAMP1(NM_032436.4):c.1001G>A (p.W334*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806038" "0" "10" "13" "115090233" "115090233" "subst" "6.90984E-5" "02327" "CHAMP1_000030" "g.115090233G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890894" "0" "50" "13" "115091673" "115091673" "subst" "0" "02327" "CHAMP1_000031" "g.115091673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931781" "21" "50" "13" "115091260" "115091260" "subst" "4.0618E-6" "00006" "CHAMP1_000032" "g.115091260G>T" "" "{PMID:Rots 2023:37196654}" "" "" "" "Germline" "" "" "0" "" "" "g.114325785G>T" "" "VUS" "" "0000960258" "0" "70" "13" "115091220" "115091223" "del" "0" "00006" "CHAMP1_000033" "g.115091220_115091223del" "" "{PMID:Poli 2024:38177409}" "" "" "" "De novo" "" "" "0" "" "" "g.114325745_114325748del" "" "likely pathogenic (dominant)" "" "0001000449" "0" "30" "13" "115089837" "115089839" "del" "0" "01804" "CHAMP1_000029" "g.115089837_115089839del" "" "" "" "CHAMP1(NM_001164144.3):c.520_522delCCT (p.P174del), CHAMP1(NM_032436.2):c.520_522delCCT (p.(Pro174del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000450" "0" "30" "13" "115090683" "115090683" "subst" "3.24905E-5" "01804" "CHAMP1_000034" "g.115090683C>T" "" "" "" "CHAMP1(NM_032436.2):c.1366C>T (p.(Arg456Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000451" "0" "50" "13" "115090923" "115090923" "subst" "1.21863E-5" "01804" "CHAMP1_000035" "g.115090923A>C" "" "" "" "CHAMP1(NM_032436.2):c.1606A>C (p.(Lys536Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000452" "0" "30" "13" "115091227" "115091227" "subst" "0" "01804" "CHAMP1_000036" "g.115091227T>C" "" "" "" "CHAMP1(NM_001164144.1):c.1910T>C (p.(Ile637Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000453" "0" "30" "13" "115091324" "115091324" "subst" "0" "01804" "CHAMP1_000037" "g.115091324C>G" "" "" "" "CHAMP1(NM_001164144.1):c.2007C>G (p.(Asn669Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000454" "0" "30" "13" "115091623" "115091623" "subst" "0" "01804" "CHAMP1_000038" "g.115091623G>A" "" "" "" "CHAMP1(NM_001164144.1):c.2306G>A (p.(Arg769His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001047275" "0" "70" "13" "115090876" "115090877" "del" "0" "01164" "CHAMP1_000039" "g.115090876_115090877del" "" "" "" "" "ACMG: PVS1-strong,PS1-strong,PM2-supporting, confirmed de novo in at least 2 individuals" "De novo" "-" "" "0" "" "" "g.114325401_114325402del" "VCV000985766.4" "pathogenic (dominant)" "ACMG" ## 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 CHAMP1 ## Count = 41 "{{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}}" "0000076069" "00005067" "70" "1866" "0" "1867" "0" "c.1866_1867del" "r.(?)" "p.(Asp622Glufs*8)" "3" "0000076070" "00005067" "70" "1768" "0" "1768" "0" "c.1768C>T" "r.(?)" "p.(Gln590*)" "3" "0000076071" "00005067" "70" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398*)" "3" "0000076072" "00005067" "70" "635" "0" "635" "0" "c.635del" "r.(?)" "p.(Pro212Leufs*7)" "3" "0000076073" "00005067" "70" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398*)" "3" "0000077846" "00005067" "90" "1880" "0" "1880" "0" "c.1880C>G" "r.(?)" "p.(Ser627*)" "3" "0000077847" "00005067" "90" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Trp334*)" "3" "0000077848" "00005067" "90" "1876" "0" "1877" "0" "c.1876_1877del" "r.(?)" "p.(Ser626Leufs*4)" "3" "0000077981" "00005067" "90" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Trp348*)" "3" "0000077984" "00005067" "90" "958" "0" "959" "0" "c.958_959del" "r.(?)" "p.(Pro320*)" "3" "0000077985" "00005067" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497*)" "3" "0000079409" "00005067" "90" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Trp334*)" "3" "0000079448" "00005067" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497*)" "3" "0000266756" "00005067" "90" "1969" "0" "1969" "0" "c.1969C>T" "r.(?)" "p.(Gln657Ter)" "" "0000270074" "00005067" "70" "1192" "0" "1192" "0" "c.1192C>T" "r.(?)" "p.(Arg398Ter)" "" "0000323556" "00005067" "50" "38" "0" "38" "0" "c.38G>A" "r.(?)" "p.(Arg13His)" "" "0000323558" "00005067" "50" "1661" "0" "1661" "0" "c.1661C>T" "r.(?)" "p.(Pro554Leu)" "" "0000343012" "00005067" "90" "1489" "0" "1489" "0" "c.1489C>T" "r.(?)" "p.(Arg497Ter)" "" "0000549898" "00005067" "10" "-178" "-6" "-178" "-5" "c.-178-6_-178-5del" "r.spl?" "p.?" "" "0000549899" "00005067" "30" "-178" "-5" "-178" "-5" "c.-178-5T>C" "r.spl?" "p.?" "" "0000549900" "00005067" "30" "915" "0" "915" "0" "c.915C>T" "r.(?)" "p.(Pro305=)" "" "0000549903" "00005067" "30" "2193" "0" "2193" "0" "c.2193G>A" "r.(?)" "p.(Lys731=)" "" "0000679731" "00005067" "30" "1209" "0" "1209" "0" "c.1209G>C" "r.(?)" "p.(Thr403=)" "" "0000679732" "00005067" "30" "1414" "0" "1414" "0" "c.1414T>G" "r.(?)" "p.(Ser472Ala)" "" "0000679733" "00005067" "30" "1902" "0" "1902" "0" "c.1902T>C" "r.(?)" "p.(Ser634=)" "" "0000683683" "00005067" "90" "1865" "0" "1866" "0" "c.1865_1866del" "r.(?)" "p.(Asp622Glufs*8)" "" "0000704154" "00005067" "90" "1077" "0" "1077" "0" "c.1077G>A" "r.(?)" "p.(Trp359Ter)" "" "0000708304" "00005067" "70" "969" "0" "969" "0" "c.969G>A" "r.(?)" "p.(Trp323Ter)" "" "0000724371" "00005067" "30" "520" "0" "522" "0" "c.520_522del" "r.(?)" "p.(Pro174del)" "" "0000724372" "00005067" "90" "1001" "0" "1001" "0" "c.1001G>A" "r.(?)" "p.(Trp334Ter)" "" "0000806038" "00005067" "10" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Ala306Pro)" "" "0000890894" "00005067" "50" "2356" "0" "2356" "0" "c.2356C>T" "r.(?)" "p.(His786Tyr)" "" "0000931781" "00005067" "50" "1943" "0" "1943" "0" "c.1943G>T" "r.(?)" "p.(Gly648Val)" "" "0000960258" "00005067" "70" "1903" "0" "1906" "0" "c.1903_1906del" "r.(?)" "p.(Glu635ThrfsTer2)" "" "0001000449" "00005067" "30" "520" "0" "522" "0" "c.520_522del" "r.(?)" "p.(Pro174del)" "" "0001000450" "00005067" "30" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Arg456Trp)" "" "0001000451" "00005067" "50" "1606" "0" "1606" "0" "c.1606A>C" "r.(?)" "p.(Lys536Gln)" "" "0001000452" "00005067" "30" "1910" "0" "1910" "0" "c.1910T>C" "r.(?)" "p.(Ile637Thr)" "" "0001000453" "00005067" "30" "2007" "0" "2007" "0" "c.2007C>G" "r.(?)" "p.(Asn669Lys)" "" "0001000454" "00005067" "30" "2306" "0" "2306" "0" "c.2306G>A" "r.(?)" "p.(Arg769His)" "" "0001047275" "00005067" "70" "1559" "0" "1560" "0" "c.1559_1560del" "r.(1559_1560del)" "p.(Ser520Tyrfs*4)" "3" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000047391" "0000076069" "0000047392" "0000076070" "0000047393" "0000076071" "0000047394" "0000076072" "0000047395" "0000076073" "0000050092" "0000077984" "0000050093" "0000077847" "0000050094" "0000077981" "0000050095" "0000077985" "0000050096" "0000077848" "0000050097" "0000077846" "0000050429" "0000079409" "0000050468" "0000079448" "0000309183" "0000683683" "0000321324" "0000704154" "0000437026" "0000931781" "0000449775" "0000960258" "0000467873" "0001047275"