### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM240) # 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}}" "TMEM240" "transmembrane protein 240" "1" "p36.33" "unknown" "NG_041807.1" "UD_136064918096" "" "https://www.LOVD.nl/TMEM240" "" "1" "25186" "339453" "616101" "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/TMEM240_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-02-16 15:45:28" "00000" "2025-11-01 13:22:20" ## 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}}" "00021482" "TMEM240" "transmembrane protein 240" "001" "NM_001114748.1" "" "NP_001108220.1" "" "" "" "-14" "1103" "522" "1475740" "1470158" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05035" "SCA21" "ataxia, spinocerebellar, type 21 (SCA-21)" "AD" "607454" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05356" "ataxia" "ataxia" "" "" "" "" "" "00006" "2017-12-21 19:14:03" "" "" "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 = 1 "{{geneid}}" "{{diseaseid}}" "TMEM240" "05035" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00152535" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00363500" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "178612" "00424060" "" "" "" "1" "" "00006" "{PMID:Hijazi 2022:36368327}" "" "M" "no" "" "" "0" "" "" "white;Europe" "Pat7" "00453450" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00152535" "00198" "00363500" "05035" "00424060" "05611" "00453450" "05356" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05035, 05356, 05611 ## Count = 4 "{{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}}" "0000125496" "00198" "00152535" "01807" "Unknown" "" "Ataxia (HP:0001251); Myoclonus (HP:0001336)" "" "" "" "" "" "" "" "" "" "" "" "0000258850" "05035" "00363500" "01164" "Unknown" "" "(+) Muscular hypotonia,(+) Motor delay,(+) Joint hypermobility,(+) Quadriceps muscle weakness,(+) Chronic constipation" "" "" "" "" "" "" "" "" "" "03y" "" "0000315268" "05611" "00424060" "00006" "Isolated (sporadic)" "6y" "no prenatal complications; birth 38w, C-section; no postnatal complications; developmental delay (HP:0012758)/mild intelletual disability (HP:0001249); no neurodevelopmental regression (-HP:0002376); seizures (HP:0001250); single words, short sentences; hypotonia (HP:0001319), lower leg spasticity; gait disturbance (HP:0001288); behavioral abnormalities (HP:0000708); no autism/autistic-like behavior (-HP:0000717); abnormal myelination (HP:0012447); no structural brain anomalies; astigmatism (HP:0000483); no nystagmus (-HP:0000639); no strabismus (-HP:0000486); no myopia (-HP:0000545)/no hyperopia (-HP:0000540); no iris coloboma (-HP:0000612); broad forehead (HP:0000337), other dysmorphic features; no gastrointestinal abnormality (HP:0011024)-; no abnormality of the immune system (HP:0002715)-; premature puberty" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000342115" "05356" "00453450" "03544" "Isolated (sporadic)" "" "HP:0001337, HP:0001251" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000153392" "00152535" "0" "01807" "01807" "2018-02-02 19:54:54" "" "" "SEQ" "DNA" "" "" "0000364728" "00363500" "1" "01164" "01164" "2021-04-28 11:07:18" "" "" "SEQ-NG-I" "DNA" "" "" "0000425371" "00424060" "1" "00006" "00006" "2022-11-16 15:06:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455064" "00453450" "1" "03544" "03544" "2024-08-29 14:11:09" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000364728" "TMEM240" ## 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 = 42 "{{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}}" "0000316693" "0" "30" "1" "1470829" "1470829" "subst" "0.000177433" "01943" "TMEM240_000002" "g.1470829C>T" "" "" "" "TMEM240(NM_001114748.1):c.432G>A (p.P144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1535449C>T" "" "likely benign" "" "0000316694" "0" "10" "1" "1470769" "1470769" "subst" "0.00111863" "01943" "TMEM240_000001" "g.1470769G>A" "" "" "" "TMEM240(NM_001114748.1):c.492C>T (p.H164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1535389G>A" "" "benign" "" "0000320443" "0" "50" "1" "1469324" "1469324" "subst" "0.000428215" "01804" "ATAD3A_000007" "g.1469324G>A" "" "" "" "ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1533944G>A" "" "VUS" "" "0000320444" "0" "50" "1" "1469330" "1469330" "subst" "5.29648E-5" "01804" "ATAD3A_000008" "g.1469330G>A" "" "" "" "ATAD3A(NM_001170535.1):c.1639G>A (p.(Gly547Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1533950G>A" "" "VUS" "" "0000346215" "0" "50" "1" "1471146" "1471146" "subst" "0" "02327" "TMEM240_000006" "g.1471146C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1535766C>T" "" "VUS" "" "0000348236" "0" "90" "1" "1470752" "1470752" "subst" "0" "02327" "TMEM240_000005" "g.1470752G>A" "" "" "" "TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1535372G>A" "" "pathogenic" "" "0000352493" "0" "70" "1" "1470752" "1470752" "subst" "0" "01807" "TMEM240_000005" "g.1470752G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.1535372G>A" "" "likely pathogenic" "" "0000503014" "0" "50" "1" "1469394" "1469394" "subst" "0.00335134" "01943" "ATAD3A_000033" "g.1469394A>T" "" "" "" "ATAD3A(NM_018188.4):c.1847A>T (p.K616M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1534014A>T" "" "VUS" "" "0000503015" "0" "30" "1" "1470808" "1470808" "subst" "0.00424115" "01943" "ATAD3A_000034" "g.1470808G>A" "" "" "" "TMEM240(NM_001114748.1):c.453C>T (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1535428G>A" "" "likely benign" "" "0000503017" "0" "50" "1" "1470872" "1470872" "subst" "0" "02327" "ATAD3A_000035" "g.1470872C>T" "" "" "" "TMEM240(NM_001114748.2):c.389G>A (p.W130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1535492C>T" "" "VUS" "" "0000503023" "0" "50" "1" "1471061" "1471061" "subst" "0" "02327" "ATAD3A_000036" "g.1471061A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1535681A>T" "" "VUS" "" "0000503025" "0" "30" "1" "1471078" "1471078" "subst" "3.31745E-5" "01943" "ATAD3A_000038" "g.1471078G>A" "" "" "" "TMEM240(NM_001114748.1):c.264C>T (p.I88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1535698G>A" "" "likely benign" "" "0000503026" "0" "50" "1" "1471103" "1471103" "subst" "3.98047E-5" "01943" "ATAD3A_000039" "g.1471103G>A" "" "" "" "TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1535723G>A" "" "VUS" "" "0000503027" "0" "30" "1" "1471103" "1471103" "subst" "3.98047E-5" "02327" "ATAD3A_000039" "g.1471103G>A" "" "" "" "TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1535723G>A" "" "likely benign" "" "0000503046" "0" "30" "1" "1475087" "1475087" "subst" "0.000138567" "02325" "SSU72_000001" "g.1475087G>A" "" "" "" "TMEM240(NM_001114748.2):c.141C>T (p.R47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1539707G>A" "" "likely benign" "" "0000503047" "0" "30" "1" "1475096" "1475096" "subst" "0.000635763" "01943" "TMEM240_000003" "g.1475096G>C" "" "" "" "TMEM240(NM_001114748.1):c.132C>G (p.G44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1539716G>C" "" "likely benign" "" "0000503048" "0" "70" "1" "1475108" "1475108" "dup" "0" "01943" "SSU72_000002" "g.1475108dup" "" "" "" "TMEM240(NM_001114748.1):c.120dupG (p.H41Afs*192)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1539728dup" "" "likely pathogenic" "" "0000604771" "0" "50" "1" "1469302" "1469302" "subst" "0" "02329" "ATAD3A_000042" "g.1469302C>G" "" "" "" "ATAD3A(NM_018188.5):c.1759-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1533922C>G" "" "VUS" "" "0000687858" "0" "50" "1" "1469324" "1469324" "subst" "0.000428215" "01943" "ATAD3A_000007" "g.1469324G>A" "" "" "" "ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716771" "0" "30" "1" "1469412" "1469412" "subst" "0.000752626" "01943" "ATAD3A_000061" "g.1469412C>T" "" "" "" "ATAD3A(NM_018188.4):c.1865C>T (p.A622V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716772" "0" "30" "1" "1470807" "1470807" "subst" "0.0321984" "01804" "ATAD3A_000062" "g.1470807C>T" "" "" "" "TMEM240(NM_001114748.1):c.454G>A (p.(Ala152Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716773" "0" "50" "1" "1470872" "1470872" "subst" "0" "02325" "ATAD3A_000035" "g.1470872C>T" "" "" "" "TMEM240(NM_001114748.2):c.389G>A (p.W130*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716775" "0" "50" "1" "1471103" "1471103" "subst" "3.98047E-5" "02325" "ATAD3A_000039" "g.1471103G>A" "" "" "" "TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765631" "0" "70" "1" "1470752" "1470752" "subst" "0" "01164" "TMEM240_000005" "g.1470752G>A" "" "PMID: 25070513; PMID: 11160961" "" "" "ACMG: PS4, PM1, PM2_SUP, PP1" "Germline" "?" "" "" "" "" "" "VCV000161192.9" "likely pathogenic (dominant)" "ACMG" "0000798758" "0" "30" "1" "1470811" "1470811" "subst" "1.40197E-5" "01943" "ATAD3A_000065" "g.1470811C>T" "" "" "" "TMEM240(NM_001114748.1):c.450G>A (p.E150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000798759" "0" "30" "1" "1471015" "1471015" "subst" "0.000127963" "01943" "ATAD3A_000066" "g.1471015G>A" "" "" "" "TMEM240(NM_001114748.1):c.327C>T (p.G109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882751" "0" "30" "1" "1470837" "1470837" "subst" "6.38715E-5" "02325" "ATAD3A_000071" "g.1470837G>A" "" "" "" "TMEM240(NM_001114748.2):c.424C>T (p.R142W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000902099" "11" "50" "1" "1470780" "1470780" "subst" "0" "00006" "TMEM240_000007" "g.1470780T>G" "" "{PMID:Hijazi 2022:36368327}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000910773" "0" "10" "1" "1469289" "1469289" "subst" "0.344239" "02325" "ATAD3A_000078" "g.1469289G>C" "" "" "" "ATAD3A(NM_001170535.3):c.1615-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000910774" "0" "30" "1" "1469501" "1469501" "subst" "0.00974449" "02325" "ATAD3A_000079" "g.1469501C>T" "" "" "" "ATAD3A(NM_001170535.3):c.*49C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922940" "0" "30" "1" "1469341" "1469341" "subst" "0.0012619" "02326" "ATAD3A_000080" "g.1469341C>T" "" "" "" "ATAD3A(NM_001170535.3):c.1650C>T (p.T550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922941" "0" "50" "1" "1471103" "1471103" "subst" "3.98047E-5" "02329" "ATAD3A_000039" "g.1471103G>A" "" "" "" "TMEM240(NM_001114748.1):c.239C>T (p.T80M), TMEM240(NM_001114748.2):c.239C>T (p.T80M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946970" "0" "50" "1" "1469324" "1469324" "subst" "0.000428215" "02325" "ATAD3A_000007" "g.1469324G>A" "" "" "" "ATAD3A(NM_001170535.1):c.1633G>A (p.(Glu545Lys)), ATAD3A(NM_001170535.3):c.1633G>A (p.E545K), ATAD3A(NM_018188.4):c.1777G>A (p.E593K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946971" "0" "50" "1" "1469394" "1469396" "del" "0" "02325" "ATAD3A_000087" "g.1469394_1469396del" "" "" "" "ATAD3A(NM_001170535.3):c.1703_1705delAGA (p.K568del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000946972" "0" "90" "1" "1470752" "1470752" "subst" "0" "02329" "TMEM240_000005" "g.1470752G>A" "" "" "" "TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990244" "0" "90" "1" "1470752" "1470752" "subst" "0" "01804" "TMEM240_000005" "g.1470752G>A" "" "" "" "TMEM240(NM_001114748.1):c.509C>T (p.(Pro170Leu)), TMEM240(NM_001114748.2):c.509C>T (p.P170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001007043" "0" "70" "1" "1470772" "1470772" "subst" "0" "03544" "TMEM240_000008" "g.1470772G>C" "" "" "" "" "" "De novo" "-" "rs606231452" "0" "" "" "g.1535392G>C" "{CV:161193}" "likely pathogenic" "ACMG" "0001031229" "0" "50" "1" "1469361" "1469361" "subst" "0.000179003" "01804" "ATAD3A_000114" "g.1469361G>A" "" "" "" "ATAD3A(NM_001170535.3):c.1670G>A (p.(Arg557His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031230" "0" "50" "1" "1469384" "1469384" "subst" "0.000276558" "01804" "ATAD3A_000115" "g.1469384C>T" "" "" "" "ATAD3A(NM_001170535.3):c.1693C>T (p.(His565Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031231" "0" "50" "1" "1469388" "1469388" "subst" "0.000199279" "01804" "ATAD3A_000116" "g.1469388A>G" "" "" "" "ATAD3A(NM_001170535.3):c.1697A>G (p.(Gln566Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031232" "0" "50" "1" "1469412" "1469412" "subst" "3.66142E-5" "01804" "ATAD3A_000117" "g.1469412C>G" "" "" "" "ATAD3A(NM_001170535.3):c.1721C>G (p.(Ala574Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049860" "0" "50" "1" "1470969" "1470969" "subst" "2.80536E-5" "01804" "ATAD3A_000121" "g.1470969C>T" "" "" "" "TMEM240(NM_001114748.2):c.373G>A (p.(Asp125Asn))" "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 TMEM240 ## Count = 42 "{{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}}" "0000316693" "00021482" "30" "432" "0" "432" "0" "c.432G>A" "r.(?)" "p.(Pro144=)" "" "0000316694" "00021482" "10" "492" "0" "492" "0" "c.492C>T" "r.(?)" "p.(His164=)" "" "0000320443" "00021482" "50" "1937" "0" "1937" "0" "c.*1415C>T" "r.(=)" "p.(=)" "" "0000320444" "00021482" "50" "1931" "0" "1931" "0" "c.*1409C>T" "r.(=)" "p.(=)" "" "0000346215" "00021482" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Gly66Arg)" "" "0000348236" "00021482" "90" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Pro170Leu)" "" "0000352493" "00021482" "70" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Pro170Leu)" "" "0000503014" "00021482" "50" "1867" "0" "1867" "0" "c.*1345T>A" "r.(=)" "p.(=)" "" "0000503015" "00021482" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Ala151=)" "" "0000503017" "00021482" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Trp130Ter)" "" "0000503023" "00021482" "50" "281" "0" "281" "0" "c.281T>A" "r.(?)" "p.(Leu94Gln)" "" "0000503025" "00021482" "30" "264" "0" "264" "0" "c.264C>T" "r.(?)" "p.(Ile88=)" "" "0000503026" "00021482" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Thr80Met)" "" "0000503027" "00021482" "30" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Thr80Met)" "" "0000503046" "00021482" "30" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(Arg47=)" "" "0000503047" "00021482" "30" "132" "0" "132" "0" "c.132C>G" "r.(?)" "p.(Gly44=)" "" "0000503048" "00021482" "70" "120" "0" "120" "0" "c.120dup" "r.(?)" "p.(His41AlafsTer192)" "" "0000604771" "00021482" "50" "1959" "0" "1959" "0" "c.*1437G>C" "r.(=)" "p.(=)" "" "0000687858" "00021482" "50" "1937" "0" "1937" "0" "c.*1415C>T" "r.(=)" "p.(=)" "" "0000716771" "00021482" "30" "1849" "0" "1849" "0" "c.*1327G>A" "r.(=)" "p.(=)" "" "0000716772" "00021482" "30" "454" "0" "454" "0" "c.454G>A" "r.(?)" "p.(Ala152Thr)" "" "0000716773" "00021482" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Trp130Ter)" "" "0000716775" "00021482" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Thr80Met)" "" "0000765631" "00021482" "70" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Pro170Leu)" "" "0000798758" "00021482" "30" "450" "0" "450" "0" "c.450G>A" "r.(?)" "p.(Glu150=)" "" "0000798759" "00021482" "30" "327" "0" "327" "0" "c.327C>T" "r.(?)" "p.(Gly109=)" "" "0000882751" "00021482" "30" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Trp)" "" "0000902099" "00021482" "50" "481" "0" "481" "0" "c.481A>C" "r.(?)" "p.(Lys161Gln)" "" "0000910773" "00021482" "10" "1972" "0" "1972" "0" "c.*1450C>G" "r.(=)" "p.(=)" "" "0000910774" "00021482" "30" "1760" "0" "1760" "0" "c.*1238G>A" "r.(=)" "p.(=)" "" "0000922940" "00021482" "30" "1920" "0" "1920" "0" "c.*1398G>A" "r.(=)" "p.(=)" "" "0000922941" "00021482" "50" "239" "0" "239" "0" "c.239C>T" "r.(?)" "p.(Thr80Met)" "" "0000946970" "00021482" "50" "1937" "0" "1937" "0" "c.*1415C>T" "r.(=)" "p.(=)" "" "0000946971" "00021482" "50" "1868" "0" "1870" "0" "c.*1346_*1348del" "r.(=)" "p.(=)" "" "0000946972" "00021482" "90" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Pro170Leu)" "" "0000990244" "00021482" "90" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Pro170Leu)" "" "0001007043" "00021482" "70" "489" "0" "489" "0" "c.489C>G" "r.(?)" "p.(Tyr163*)" "4" "0001031229" "00021482" "50" "1900" "0" "1900" "0" "c.*1378C>T" "r.(=)" "p.(=)" "" "0001031230" "00021482" "50" "1877" "0" "1877" "0" "c.*1355G>A" "r.(=)" "p.(=)" "" "0001031231" "00021482" "50" "1873" "0" "1873" "0" "c.*1351T>C" "r.(=)" "p.(=)" "" "0001031232" "00021482" "50" "1849" "0" "1849" "0" "c.*1327G>C" "r.(=)" "p.(=)" "" "0001049860" "00021482" "50" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Asp125Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000153392" "0000352493" "0000364728" "0000765631" "0000425371" "0000902099" "0000455064" "0001007043"