### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ELAC2) # 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}}" "ELAC2" "elaC homolog 2 (E. coli)" "17" "p11.2" "unknown" "NG_015808.1" "UD_132118718306" "" "https://www.LOVD.nl/ELAC2" "" "1" "14198" "60528" "605367" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ELAC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2020-11-26 15:16:25" "00006" "2025-12-05 13:23:08" ## 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}}" "00025584" "ELAC2" "elaC ribonuclease Z 2, transcript variant 1" "003" "NM_018127.6" "" "NP_060597.4" "" "" "" "-117" "3687" "2481" "12921381" "12894929" "00006" "2020-11-26 15:17:23" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03714" "HPC2" "cancer, prostate, hereditary, type 2 (HPC-12)" "" "614731" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03950" "COXPD17" "combined oxidative phosphorylation deficiency, type 17 (COXPD-17)" "AR" "615440" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05093" "cancer" "cancer" "" "" "" "" "" "00006" "2015-10-23 13:34:05" "" "" "07210" "scoliosis" "scoliosis" "" "" "" "" "" "00006" "2025-12-05 11:13:58" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ELAC2" "03714" "ELAC2" "03950" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00291626" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291627" "" "" "" "244" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296594" "" "" "" "1" "" "00006" "{PMID:Kemp 2011:21169334}, {PMID:Taylor 2014:25058219}" "" "F" "" "Germany" "21d" "0" "" "" "" "Pat27" "00304560" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320309" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "CQG1" "00374725" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5748" "00419998" "" "" "" "3" "" "00006" "{PMID:Yang 2015:26241669}" "3-generation family, 3 affected (3F)" "F" "" "China" "" "0" "" "" "" "FamPatII2" "00468856" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00468857" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00470686" "" "" "" "1" "" "00006" "{PMID:Horbacz 2025:41210864}" "patient, affected" "M" "" "Poland" "" "0" "" "" "" "Pat47" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00291626" "00198" "00291627" "00198" "00296594" "00198" "00304560" "00198" "00320309" "04172" "00374725" "00198" "00419998" "05093" "00468856" "00198" "00468857" "00198" "00470686" "07210" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 03714, 03950, 04172, 05093, 07210 ## Count = 8 "{{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/Cancer/Sub_type}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "" "0000224000" "00198" "00296594" "00006" "Unknown" "21d" "deceased; muscle affected; central nervous system not affected; heart affected; liver not affected; lactic acidosis" "1d" "" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000242337" "04172" "00320309" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000269935" "00198" "00374725" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000311244" "05093" "00419998" "00006" "Unknown" "" "see paper" "" "" "" "" "" "" "" "" "" "" "cancer" "" "0000354009" "00198" "00468856" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the cardiovascular system" "" "0000354010" "00198" "00468857" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the cardiovascular system" "" "0000355580" "07210" "00470686" "00006" "Isolated (sporadic)" "15y" "see paper; ... scoliosis, no other skeletal defects; no symptoms; no physical activity" "" "" "" "" "" "" "" "" "" "" "severe adolescent idiopathic scoliosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000292794" "00291626" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292795" "00291627" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297704" "00296594" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305689" "00304560" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321495" "00320309" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000375919" "00374725" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000421304" "00419998" "1" "00006" "00006" "2022-10-30 10:00:17" "" "" "SEQ;SEQ-NG" "DNA" "" "cancer gene panel" "0000470524" "00468856" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470525" "00468857" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000472353" "00470686" "1" "00006" "00006" "2025-12-05 11:16:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000321495" "ELAC2" "0000321495" "MYL3" "0000375919" "ELAC2" ## 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 = 49 "{{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}}" "0000013642" "0" "50" "17" "12895506" "12895506" "subst" "0" "00037" "ELAC2_000001" "g.12895506G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.12992189G>A" "" "VUS" "" "0000267806" "0" "10" "17" "12899902" "12899902" "subst" "0.0348622" "02325" "ELAC2_000002" "g.12899902C>T" "" "" "" "ELAC2(NM_018127.7):c.1621G>A (p.A541T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12996585C>T" "" "benign" "" "0000560297" "0" "30" "17" "12898308" "12898308" "subst" "0.00031267" "01943" "ELAC2_000007" "g.12898308G>A" "" "" "" "ELAC2(NM_018127.6):c.1880C>T (p.S627L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12994991G>A" "" "likely benign" "" "0000560298" "0" "50" "17" "12899252" "12899252" "subst" "0" "01804" "ELAC2_000008" "g.12899252C>T" "" "" "" "ELAC2(NM_001165962.1):c.1578+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12995935C>T" "" "VUS" "" "0000560299" "0" "30" "17" "12903598" "12903598" "dup" "0" "01804" "ELAC2_000009" "g.12903598dup" "" "" "" "ELAC2(NM_001165962.1):c.1185-6dupC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13000281dup" "" "likely benign" "" "0000560303" "0" "50" "17" "12920227" "12920227" "subst" "4.06058E-5" "01943" "ELAC2_000013" "g.12920227T>C" "" "" "" "ELAC2(NM_018127.6):c.319A>G (p.N107D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13016910T>C" "" "VUS" "" "0000616343" "0" "30" "17" "12903598" "12903599" "ins" "0" "01804" "ELAC2_000014" "g.12903598_12903599insGAGA" "" "" "" "ELAC2(NM_001165962.1):c.1185-8_1185-7insTCTC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13000281_13000282insGAGA" "" "likely benign" "" "0000616344" "0" "50" "17" "12906855" "12906858" "dup" "0" "01804" "ELAC2_000015" "g.12906855_12906858dup" "" "" "" "ELAC2(NM_001165962.1):c.901_902insGTGG (p.(Val301GlyfsTer25))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13003538_13003541dup" "" "VUS" "" "0000623613" "0" "30" "17" "12921230" "12921230" "subst" "0" "01943" "ELAC2_000017" "g.12921230G>A" "" "" "" "ELAC2(NM_018127.6):c.35C>T (p.A12V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13017913G>A" "" "likely benign" "" "0000623614" "0" "30" "17" "12921256" "12921256" "subst" "0.000190473" "01943" "ELAC2_000018" "g.12921256C>G" "" "" "" "ELAC2(NM_018127.6):c.9G>C (p.A3=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13017939C>G" "" "likely benign" "" "0000649483" "1" "50" "17" "12896274" "12896274" "subst" "0.000500053" "03575" "ELAC2_000019" "g.12896274C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs119484086}" "Germline" "" "rs119484086" "0" "" "" "g.12992957C>T" "" "VUS" "" "0000649484" "1" "10" "17" "12899902" "12899902" "subst" "0.0348622" "03575" "ELAC2_000002" "g.12899902C>T" "244/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "244 heterozygous; {DB:CLININrs5030739}" "Germline" "" "rs5030739" "0" "" "" "g.12996585C>T" "" "benign" "" "0000660313" "1" "90" "17" "12901771" "12901771" "subst" "8.1217E-6" "00006" "ELAC2_000020" "g.12901771G>A" "" "{PMID:Taylor 2014:25058219}" "" "NM_018127.6:c.1478C>T" "" "Germline" "" "" "0" "" "" "g.12998454G>A" "" "pathogenic (recessive)" "" "0000660344" "2" "90" "17" "12899902" "12899902" "subst" "0.0348622" "00006" "ELAC2_000002" "g.12899902C>T" "" "{PMID:Taylor 2014:25058219}" "" "NM_018127.6:c.1621G>A" "" "Germline" "" "" "0" "" "" "g.12996585C>T" "" "pathogenic (recessive)" "" "0000669377" "3" "10" "17" "12899902" "12899902" "subst" "0.0348622" "03575" "ELAC2_000002" "g.12899902C>T" "8/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs5030739}" "Germline" "" "rs5030739" "0" "" "" "g.12996585C>T" "" "benign" "" "0000704353" "0" "50" "17" "12905630" "12905630" "subst" "4.06101E-6" "00006" "ELAC2_000021" "g.12905630A>C" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.13002313A>C" "" "VUS" "ACMG" "0000726178" "0" "70" "17" "12896274" "12896274" "subst" "0.000500053" "02329" "ELAC2_000019" "g.12896274C>T" "" "" "" "ELAC2(NM_018127.7):c.2342G>A (p.(Arg781His), p.R781H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000726179" "0" "90" "17" "12898351" "12898351" "del" "0" "02329" "ARHGAP44_000004" "g.12898351del" "" "" "" "ELAC2(NM_018127.7):c.1840delG (p.A614Lfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000787270" "3" "50" "17" "12921183" "12921183" "subst" "0.000110231" "00006" "ELAC2_000022" "g.12921183G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs763864314" "0" "" "" "g.13017866G>A" "{CV-RCV:000530273.1}" "VUS" "" "0000854754" "0" "10" "17" "12899902" "12899902" "subst" "0.0348622" "02326" "ELAC2_000002" "g.12899902C>T" "" "" "" "ELAC2(NM_018127.7):c.1621G>A (p.A541T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000854755" "0" "10" "17" "12915009" "12915009" "subst" "0.274163" "02326" "ELAC2_000016" "g.12915009G>A" "" "" "" "ELAC2(NM_018127.7):c.650C>T (p.(Ser217Leu), p.S217L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000865070" "0" "30" "17" "12905682" "12905682" "dup" "0" "01943" "ARHGAP44_000007" "g.12905682dup" "" "" "" "ELAC2(NM_018127.6):c.1219-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000882024" "21" "70" "17" "12920436" "12920436" "subst" "0" "00006" "ELAC2_000023" "g.12920436T>C" "" "{PMID:Yang 2015:26241669}" "" "A248G" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000914734" "0" "10" "17" "12898295" "12898295" "subst" "0.0988727" "02325" "ARHGAP44_000008" "g.12898295T>C" "" "" "" "ELAC2(NM_018127.7):c.1893A>G (p.T631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914735" "0" "10" "17" "12899963" "12899963" "subst" "0.272468" "02325" "ARHGAP44_000009" "g.12899963T>C" "" "" "" "ELAC2(NM_018127.7):c.1560A>G (p.T520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914736" "0" "10" "17" "12903599" "12903599" "subst" "0.30713" "02325" "ARHGAP44_000010" "g.12903599A>G" "" "" "" "ELAC2(NM_018127.7):c.1305-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914737" "0" "10" "17" "12905574" "12905574" "subst" "0.272336" "02325" "ARHGAP44_000011" "g.12905574T>A" "" "" "" "ELAC2(NM_018127.7):c.1304+17A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914738" "0" "10" "17" "12905743" "12905743" "subst" "0.272415" "02325" "ARHGAP44_000012" "g.12905743G>A" "" "" "" "ELAC2(NM_018127.7):c.1218+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914739" "0" "10" "17" "12916606" "12916606" "subst" "0.0977242" "02325" "ARHGAP44_000013" "g.12916606A>G" "" "" "" "ELAC2(NM_018127.7):c.491-14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000914740" "0" "10" "17" "12920260" "12920260" "subst" "0.274958" "02325" "ARHGAP44_000014" "g.12920260A>G" "" "" "" "ELAC2(NM_018127.7):c.297-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000950797" "0" "70" "17" "12896274" "12896274" "subst" "0.000500053" "02327" "ELAC2_000019" "g.12896274C>T" "" "" "" "ELAC2(NM_018127.7):c.2342G>A (p.(Arg781His), p.R781H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950798" "0" "70" "17" "12897797" "12897797" "subst" "4.06055E-6" "02327" "ARHGAP44_000015" "g.12897797G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982304" "0" "30" "17" "12896201" "12896263" "dup" "0" "01804" "ARHGAP44_000017" "g.12896201_12896263dup" "" "" "" "ELAC2(NM_018127.7):c.2353_2415dup (p.(Arg785_Asp805dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982305" "0" "50" "17" "12896274" "12896274" "subst" "0.000500053" "01804" "ELAC2_000019" "g.12896274C>T" "" "" "" "ELAC2(NM_018127.7):c.2342G>A (p.(Arg781His), p.R781H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982306" "0" "50" "17" "12908337" "12908337" "subst" "0" "01804" "ARHGAP44_000018" "g.12908337G>A" "" "" "" "ELAC2(NM_018127.7):c.952C>T (p.(Gln318*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982307" "0" "50" "17" "12909099" "12909099" "subst" "4.06062E-5" "01804" "ARHGAP44_000019" "g.12909099C>T" "" "" "" "ELAC2(NM_018127.7):c.841G>A (p.(Gly281Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982308" "0" "50" "17" "12916587" "12916587" "subst" "0" "01804" "ARHGAP44_000020" "g.12916587G>C" "" "" "" "ELAC2(NM_018127.7):c.496C>G (p.(Arg166Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982309" "0" "50" "17" "12921016" "12921019" "del" "0" "01804" "ARHGAP44_000021" "g.12921016_12921019del" "" "" "" "ELAC2(NM_018127.7):c.245+5_245+8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982310" "0" "50" "17" "12921070" "12921070" "subst" "0.000190807" "01804" "ARHGAP44_000022" "g.12921070C>T" "" "" "" "ELAC2(NM_018127.7):c.195G>A (p.(Ala65=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002921" "0" "70" "17" "12903593" "12903593" "subst" "4.08924E-6" "01804" "ARHGAP44_000026" "g.12903593T>C" "" "" "" "ELAC2(NM_018127.6):c.1305-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001002922" "0" "50" "17" "12916571" "12916571" "subst" "2.03122E-5" "01804" "ARHGAP44_000027" "g.12916571G>A" "" "" "" "ELAC2(NM_018127.6):c.512C>T (p.(Pro171Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002923" "0" "50" "17" "12921082" "12921082" "subst" "4.33903E-6" "01804" "ARHGAP44_000028" "g.12921082C>G" "" "" "" "ELAC2(NM_018127.6):c.183G>C (p.(Gln61His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002924" "0" "50" "17" "12921263" "12921263" "subst" "0" "01804" "ARHGAP44_000029" "g.12921263A>G" "" "" "" "ELAC2(NM_018127.6):c.2T>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041619" "0" "30" "17" "12920445" "12920445" "subst" "0" "01804" "ARHGAP44_000031" "g.12920445G>A" "" "" "" "ELAC2(NM_018127.7):c.246-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055874" "0" "10" "17" "12915009" "12915009" "subst" "0.274163" "01804" "ELAC2_000016" "g.12915009G>A" "" "" "" "ELAC2(NM_018127.7):c.650C>T (p.(Ser217Leu), p.S217L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001055875" "0" "50" "17" "12916521" "12916524" "del" "0" "01804" "ARHGAP44_000032" "g.12916521_12916524del" "" "" "" "ELAC2(NM_018127.7):c.559+3_559+6del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001058646" "0" "90" "17" "12899256" "12899256" "subst" "0" "00006" "ELAC2_000024" "g.12899256C>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.12995939C>A" "" "pathogenic" "" "0001058647" "0" "70" "17" "12896274" "12896274" "subst" "0.000500053" "00006" "ELAC2_000019" "g.12896274C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.12992957C>T" "" "likely pathogenic" "" "0001060813" "0" "70" "17" "12903573" "12903573" "subst" "0" "00006" "ELAC2_000025" "g.12903573G>T" "" "{PMID:Horbacz 2025:41210864}" "" "" "ACMG PVS1, PM2; not in 142 controls" "Germline/De novo (untested)" "" "" "0" "" "" "g.13000256G>T" "" "likely pathogenic" "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 ELAC2 ## Count = 49 "{{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}}" "0000013642" "00025584" "50" "3110" "0" "3110" "0" "c.*629C>T" "r.(=)" "p.(=)" "" "0000267806" "00025584" "10" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Ala541Thr)" "" "0000560297" "00025584" "30" "1880" "0" "1880" "0" "c.1880C>T" "r.(?)" "p.(Ser627Leu)" "" "0000560298" "00025584" "50" "1698" "5" "1698" "5" "c.1698+5G>A" "r.spl?" "p.?" "" "0000560299" "00025584" "30" "1305" "-6" "1305" "-6" "c.1305-6dup" "r.(=)" "p.(=)" "" "0000560303" "00025584" "50" "319" "0" "319" "0" "c.319A>G" "r.(?)" "p.(Asn107Asp)" "" "0000616343" "00025584" "30" "1305" "-8" "1305" "-7" "c.1305-8_1305-7insTCTC" "r.(=)" "p.(=)" "" "0000616344" "00025584" "50" "1018" "0" "1021" "0" "c.1018_1021dup" "r.(?)" "p.(Val341GlyfsTer25)" "" "0000623613" "00025584" "30" "35" "0" "35" "0" "c.35C>T" "r.(?)" "p.(Ala12Val)" "" "0000623614" "00025584" "30" "9" "0" "9" "0" "c.9G>C" "r.(?)" "p.(Ala3=)" "" "0000649483" "00025584" "50" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Arg781His)" "" "0000649484" "00025584" "10" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Ala541Thr)" "" "0000660313" "00025584" "90" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Pro493Leu)" "" "0000660344" "00025584" "90" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Ala541Thr)" "" "0000669377" "00025584" "10" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Ala541Thr)" "" "0000704353" "00025584" "50" "1265" "0" "1265" "0" "c.1265T>G" "r.(?)" "p.(Leu422Arg)" "" "0000726178" "00025584" "70" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Arg781His)" "" "0000726179" "00025584" "90" "1840" "0" "1840" "0" "c.1840del" "r.(?)" "p.(Ala614Leufs*11)" "" "0000787270" "00025584" "50" "82" "0" "82" "0" "c.82C>T" "r.(?)" "p.(Arg28Cys)" "1" "0000854754" "00025584" "10" "1621" "0" "1621" "0" "c.1621G>A" "r.(?)" "p.(Ala541Thr)" "" "0000854755" "00025584" "10" "650" "0" "650" "0" "c.650C>T" "r.(?)" "p.(Ser217Leu)" "" "0000865070" "00025584" "30" "1219" "-4" "1219" "-4" "c.1219-4dup" "r.spl?" "p.?" "" "0000882024" "00025584" "70" "248" "0" "248" "0" "c.248A>G" "r.(?)" "p.(Tyr83Cys)" "" "0000914734" "00025584" "10" "1893" "0" "1893" "0" "c.1893A>G" "r.(?)" "p.(Thr631=)" "" "0000914735" "00025584" "10" "1560" "0" "1560" "0" "c.1560A>G" "r.(?)" "p.(Thr520=)" "" "0000914736" "00025584" "10" "1305" "-8" "1305" "-8" "c.1305-8T>C" "r.(=)" "p.(=)" "" "0000914737" "00025584" "10" "1304" "17" "1304" "17" "c.1304+17A>T" "r.(=)" "p.(=)" "" "0000914738" "00025584" "10" "1218" "15" "1218" "15" "c.1218+15C>T" "r.(=)" "p.(=)" "" "0000914739" "00025584" "10" "491" "-14" "491" "-14" "c.491-14T>C" "r.(=)" "p.(=)" "" "0000914740" "00025584" "10" "297" "-11" "297" "-11" "c.297-11T>C" "r.(=)" "p.(=)" "" "0000950797" "00025584" "70" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Arg781His)" "" "0000950798" "00025584" "70" "2053" "0" "2053" "0" "c.2053C>A" "r.(?)" "p.(His685Asn)" "" "0000982304" "00025584" "30" "2353" "0" "2415" "0" "c.2353_2415dup" "r.(?)" "p.(Arg785_Asp805dup)" "" "0000982305" "00025584" "50" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Arg781His)" "" "0000982306" "00025584" "50" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Gln318*)" "" "0000982307" "00025584" "50" "841" "0" "841" "0" "c.841G>A" "r.(?)" "p.(Gly281Arg)" "" "0000982308" "00025584" "50" "496" "0" "496" "0" "c.496C>G" "r.(?)" "p.(Arg166Gly)" "" "0000982309" "00025584" "50" "245" "5" "245" "8" "c.245+5_245+8del" "r.spl?" "p.?" "" "0000982310" "00025584" "50" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(=)" "" "0001002921" "00025584" "70" "1305" "-2" "1305" "-2" "c.1305-2A>G" "r.spl?" "p.?" "" "0001002922" "00025584" "50" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Pro171Leu)" "" "0001002923" "00025584" "50" "183" "0" "183" "0" "c.183G>C" "r.(?)" "p.(Gln61His)" "" "0001002924" "00025584" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "0001041619" "00025584" "30" "246" "-7" "246" "-7" "c.246-7C>T" "r.(=)" "p.(=)" "" "0001055874" "00025584" "10" "650" "0" "650" "0" "c.650C>T" "r.(?)" "p.(Ser217Leu)" "" "0001055875" "00025584" "50" "559" "3" "559" "6" "c.559+3_559+6del" "r.(?)" "p.(His186Valfs*55)" "" "0001058646" "00025584" "90" "1698" "1" "1698" "1" "c.1698+1G>T" "r.spl" "p.?" "" "0001058647" "00025584" "70" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Arg781His)" "" "0001060813" "00025584" "70" "1323" "0" "1323" "0" "c.1323C>A" "r.(?)" "p.(Cys441Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000000210" "0000013642" "0000292794" "0000649483" "0000292795" "0000649484" "0000297704" "0000660313" "0000297704" "0000660344" "0000305689" "0000669377" "0000321495" "0000704353" "0000375919" "0000787270" "0000421304" "0000882024" "0000470524" "0001058646" "0000470525" "0001058647" "0000472353" "0001060813"