### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VARS2) # 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}}" "VARS2" "valyl-tRNA synthetase 2, mitochondrial" "6" "p21.33" "unknown" "NG_034224.1" "UD_136061771296" "" "https://www.LOVD.nl/VARS2" "" "1" "21642" "57176" "612802" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/VARS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-24 09:16:33" "00000" "2026-01-20 18:57:21" ## 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}}" "00022557" "VARS2" "valyl-tRNA synthetase 2, mitochondrial (putative), transcript variant 2" "001" "NM_020442.4" "" "NP_065175.4" "" "" "" "-167" "3441" "3192" "30881982" "30894236" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01740" "MC4DN" "mitochondrial complex IV deficiency (MCDN4)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-07-23 10:38:44" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04248" "-" "encephalomyopathy, mitochondrial" "" "" "" "" "" "00006" "2015-05-03 13:18:08" "" "" "05060" "COXPD20" "oxidative phosphorylation deficiency, combined, type 20 (COXPD-20)" "AR" "615917" "" "" "" "00000" "2015-09-23 11:00:40" "00006" "2021-12-10 21:51:32" "05316" "COXPD" "combined oxidative phosphorylation deficiency" "" "" "" "" "" "00006" "2017-08-11 14:15:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VARS2" "05060" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00011677" "" "" "" "1" "" "00095" "{PMID:Diodato 2014:24827421}" "" "M" "?" "Italy" "" "0" "" "" "" "24827421-P1" "00116637" "" "" "" "1" "" "00095" "" "" "F" "no" "Italy" "" "0" "" "" "" "" "00117123" "" "" "" "2" "" "00006" "{PMID:Taylor 2014:25058219}" "family, 2 affecteds" "M" "" "United Kingdom (Great Britain)" "10y" "0" "" "" "" "25058219-Pat29" "00132782" "" "" "" "1" "" "00095" "" "" "M" "" "" "" "0" "" "" "" "" "00274202" "" "" "" "1" "" "00006" "{PMID:Pronicka 2016:27290639}" "2-generation family, affected sibs with similar symptoms" "M" "" "Poland" "" "0" "" "" "" "Pat97" "00294052" "" "" "" "190" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294053" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296596" "" "" "" "2" "" "00006" "{PMID:Taylor 2014:25058219}" "2 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "British" "Pat29" "00305075" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305076" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305077" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00362004" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat7AB" "00362006" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat9AB" "00362007" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat10AB" "00383874" "" "" "" "1" "" "00000" "{PMID:Abu Diab 2019:30925032}" "" "M" "yes" "Israel" "" "0" "" "" "Palestinian" "SJ002 II:1" "00383875" "" "" "" "1" "" "00000" "{PMID:Abu Diab 2019:30925032}" "" "M" "yes" "Israel" "" "0" "" "" "Palestinian" "SJ002 II:2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00011677" "00198" "00116637" "04248" "00117123" "05316" "00132782" "01740" "00274202" "00198" "00294052" "00198" "00294053" "00198" "00296596" "00198" "00305075" "00198" "00305076" "00198" "00305077" "00198" "00362004" "04214" "00362006" "04214" "00362007" "04214" "00383874" "04214" "00383875" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01740, 04214, 04248, 05060, 05316 ## Count = 11 "{{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}}" "0000010366" "00198" "00011677" "00095" "Familial, autosomal recessive" "" "psycomotor regression, microcephalia" "" "" "" "" "" "" "" "" "" "" "" "0000092372" "05316" "00117123" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000092375" "04248" "00116637" "00095" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105551" "01740" "00132782" "00095" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000209147" "00198" "00274202" "00006" "Familial, autosomal recessive" "" "neonatal onset; mitochondrial disease criteria score 4; muscle biopsy" "0d" "" "" "" "" "" "" "" "" "expected mitochondrial disorder" "" "0000224002" "00198" "00296596" "00006" "Unknown" "10y" "muscle affected; central nervous system affected; heart not affected; liver not affected; progressive external ophthalmoparesis, ptosis, ataxia" "<1y" "" "" "" "" "" "" "" "" "multiple mitochondrial respiratory chain complex deficiency" "" "0000257397" "04214" "00362004" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257399" "04214" "00362006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000257400" "04214" "00362007" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000277659" "04214" "00383874" "00000" "Familial, autosomal recessive" "" "hypotony, psychomotor delay, dysmorphic facial features, pathologic myopia, progressive external ophthalmoplegia and diffuse retinal atrophy" "" "" "" "" "" "" "" "" "Combined oxidative phosphorylation deficiency-20" "Atypical Kearns-Sayre syndrome" "" "0000277660" "04214" "00383875" "00000" "Familial, autosomal recessive" "" "hypotony, psychomotor delay, dysmorphic facial features, pathologic myopia, progressive external ophthalmoplegia and diffuse retinal atrophy" "" "" "" "" "" "" "" "" "Combined oxidative phosphorylation deficiency-20" "Atypical Kearns-Sayre syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000011593" "00011677" "1" "00095" "00095" "2014-02-19 13:10:20" "" "" "SEQ-NG" "DNA" "" "" "0000117094" "00116637" "1" "00095" "00095" "2017-08-08 13:53:48" "" "" "SEQ-NG" "DNA" "" "" "0000117583" "00117123" "1" "00006" "00006" "2017-08-11 14:16:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000133618" "00132782" "1" "00095" "00095" "2017-11-06 17:04:06" "" "" "SEQ-NG" "DNA" "" "" "0000275357" "00274202" "1" "00006" "00006" "2019-12-24 17:05:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000295220" "00294052" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295221" "00294053" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297706" "00296596" "1" "00006" "00006" "2020-04-08 15:05:07" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000306204" "00305075" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306205" "00305076" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306206" "00305077" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000363232" "00362004" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363234" "00362006" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000363235" "00362007" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000385099" "00383874" "1" "00000" "03840" "2021-09-29 13:08:31" "" "" "SEQ-NG;arraySNP;SEQ" "DNA" "blood" "whole exome sequencing, SNP array homozygosity mapping" "0000385100" "00383875" "1" "00000" "03840" "2021-09-29 13:08:31" "" "" "SEQ-NG;arraySNP;SEQ" "DNA" "blood" "whole exome sequencing, SNP array homozygosity mapping" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000011593" "VARS2" "0000117094" "VARS2" "0000117583" "VARS2" "0000133618" "VARS2" "0000275357" "VARS2" "0000385099" "VARS2" "0000385100" "VARS2" ## 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 = 53 "{{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}}" "0000031249" "3" "90" "6" "30886628" "30886628" "subst" "2.07393E-5" "00095" "VARS2_000001" "g.30886628C>T" "" "{PMID:Diodato 2014:24827421}" "" "1100C>T (T367I)" "" "Germline" "yes" "" "0" "" "" "g.30918851C>T" "" "pathogenic" "" "0000187825" "0" "90" "6" "30886628" "30886628" "subst" "2.07393E-5" "00095" "VARS2_000001" "g.30886628C>T" "" "" "" "NM_020442.5:c.1010C>T" "" "Germline" "" "rs587777585" "0" "" "" "g.30918851C>T" "" "pathogenic" "" "0000187826" "0" "70" "6" "30886678" "30886678" "subst" "8.29834E-6" "00095" "VARS2_000002" "g.30886678G>A" "" "" "" "NM_020442.5:c.1060G>A" "" "Germline" "" "rs753490759" "0" "" "" "g.30918901G>A" "" "likely pathogenic" "" "0000188550" "2" "70" "6" "30889753" "30889753" "subst" "4.14845E-6" "00006" "VARS2_000003" "g.30889753C>A" "" "{PMID:Taylor 2014:25058219}, {OMIM612802:0001}" "" "" "" "Germline" "" "rs587777584" "0" "" "" "g.30921976C>A" "" "likely pathogenic" "" "0000188551" "1" "70" "6" "30886663" "30886663" "subst" "0" "00006" "VARS2_000004" "g.30886663G>A" "" "{PMID:Taylor 2014:25058219}, {OMIM612802:0001}" "" "" "" "Germline" "" "rs587777583" "0" "" "" "g.30918886G>A" "" "likely pathogenic" "" "0000222857" "0" "70" "6" "30888503" "30888503" "subst" "7.68327E-5" "00095" "VARS2_000005" "g.30888503G>T" "" "" "" "" "" "Germline" "yes" "rs143821815" "0" "" "" "g.30920726G>T" "" "likely pathogenic" "" "0000222858" "0" "70" "6" "30890717" "30890717" "subst" "4.16625E-6" "00095" "VARS2_000006" "g.30890717G>A" "" "" "" "" "" "Germline" "yes" "rs772718755" "0" "" "" "g.30922940G>A" "" "likely pathogenic" "" "0000330854" "0" "50" "6" "30877809" "30877809" "subst" "2.07483E-5" "01804" "GTF2H4_000001" "g.30877809C>T" "" "" "" "GTF2H4(NM_001517.4):c.343C>T (p.(Arg115Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30910032C>T" "" "VUS" "" "0000330855" "0" "50" "6" "30882990" "30882990" "subst" "0" "01804" "VARS2_000007" "g.30882990C>T" "" "" "" "VARS2(NM_001167733.1):c.-162C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30915213C>T" "" "VUS" "" "0000330857" "0" "50" "6" "30883798" "30883798" "subst" "4.06055E-5" "01804" "VARS2_000009" "g.30883798T>G" "" "" "" "VARS2(NM_001167733.1):c.127T>G (p.(Ser43Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30916021T>G" "" "VUS" "" "0000330858" "0" "90" "6" "30887868" "30887868" "subst" "0.000408359" "01804" "VARS2_000010" "g.30887868G>A" "" "" "" "VARS2(NM_001167733.1):c.748G>A (p.(Ala250Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30920091G>A" "" "pathogenic" "" "0000330859" "0" "50" "6" "30888162" "30888162" "subst" "0.00015102" "01804" "VARS2_000011" "g.30888162G>A" "" "" "" "VARS2(NM_001167733.1):c.926G>A (p.(Trp309Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30920385G>A" "" "VUS" "" "0000330860" "0" "50" "6" "30889433" "30889433" "subst" "1.74564E-5" "01804" "VARS2_000012" "g.30889433C>T" "" "" "" "VARS2(NM_001167733.1):c.1280C>T (p.(Thr427Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30921656C>T" "" "VUS" "" "0000330861" "0" "70" "6" "30889969" "30889969" "subst" "4.15389E-6" "01804" "VARS2_000013" "g.30889969G>A" "" "" "" "VARS2(NM_001167734.1):c.1973G>A (p.(Arg658His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30922192G>A" "" "likely pathogenic" "" "0000330862" "0" "50" "6" "30893061" "30893061" "subst" "0.000511182" "01804" "VARS2_000014" "g.30893061G>A" "" "" "" "VARS2(NM_001167733.1):c.2264G>A (p.(Arg755His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30925284G>A" "" "VUS" "" "0000330863" "0" "50" "6" "30893700" "30893700" "subst" "8.30227E-5" "01804" "VARS2_000015" "g.30893700G>A" "" "" "" "VARS2(NM_001167733.1):c.2585G>A (p.(Arg862Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.30925923G>A" "" "VUS" "" "0000528217" "0" "50" "6" "30882994" "30882994" "subst" "1.62434E-5" "01804" "GTF2H4_000005" "g.30882994C>T" "" "" "" "VARS2(NM_001167733.1):c.-158C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30915217C>T" "" "VUS" "" "0000528218" "0" "30" "6" "30885474" "30885474" "subst" "0.00224817" "01804" "GTF2H4_000006" "g.30885474G>A" "" "" "" "VARS2(NM_001167733.1):c.456G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30917697G>A" "" "likely benign" "" "0000528219" "0" "70" "6" "30886666" "30886666" "subst" "8.29731E-6" "02327" "GTF2H4_000007" "g.30886666G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30918889G>A" "" "likely pathogenic" "" "0000528220" "0" "50" "6" "30886684" "30886684" "subst" "4.14931E-6" "01804" "GTF2H4_000008" "g.30886684C>T" "" "" "" "VARS2(NM_001167733.1):c.646C>T (p.(Arg216Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30918907C>T" "" "VUS" "" "0000528222" "0" "30" "6" "30889403" "30889403" "subst" "0.00653993" "01804" "VARS2_000017" "g.30889403C>A" "" "" "" "VARS2(NM_001167733.1):c.1250C>A (p.(Ala417Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30921626C>A" "" "likely benign" "" "0000528223" "0" "50" "6" "30889968" "30889968" "subst" "4.15176E-6" "01804" "VARS2_000018" "g.30889968C>T" "" "" "" "VARS2(NM_001167733.1):c.1462C>T (p.(Arg488Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30922191C>T" "" "VUS" "" "0000528224" "0" "30" "6" "30890535" "30890535" "subst" "0.000749039" "01804" "VARS2_000019" "g.30890535T>C" "" "" "" "VARS2(NM_001167733.1):c.1670T>C (p.(Ile557Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30922758T>C" "" "likely benign" "" "0000528225" "0" "70" "6" "30893961" "30893961" "subst" "4.97756E-5" "02327" "VARS2_000020" "g.30893961C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30926184C>T" "" "likely pathogenic" "" "0000610256" "0" "50" "6" "30888131" "30888131" "subst" "0" "02327" "VARS2_000021" "g.30888131C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30920354C>T" "" "VUS" "" "0000610257" "0" "50" "6" "30889951" "30889951" "subst" "8.29958E-6" "02327" "VARS2_000022" "g.30889951T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30922174T>C" "" "VUS" "" "0000629321" "0" "90" "6" "30886628" "30886628" "subst" "2.07393E-5" "00006" "VARS2_000001" "g.30886628C>T" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "NM_001167734.1:c.1100C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30918851C>T" "" "pathogenic (recessive)" "" "0000629359" "0" "90" "6" "30888447" "30888447" "subst" "0" "00006" "VARS2_000023" "g.30888447G>A" "1/113 cases" "{PMID:Pronicka 2016:27290639}" "" "NM_001167734.1:c.1490G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.30920670G>A" "" "pathogenic (recessive)" "" "0000651909" "1" "10" "6" "30882803" "30882803" "subst" "0.0501705" "03575" "VARS2_000024" "g.30882803G>A" "190/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "190 heterozygous; {DB:CLININrs6926723}" "Germline" "" "rs6926723" "0" "" "" "g.30915026G>A" "" "benign" "" "0000651910" "1" "10" "6" "30891228" "30891228" "subst" "0.0111262" "03575" "VARS2_000025" "g.30891228C>T" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs17189635}" "Germline" "" "rs17189635" "0" "" "" "g.30923451C>T" "" "benign" "" "0000655549" "0" "10" "6" "30893728" "30893728" "subst" "0.7541" "02327" "VARS2_000026" "g.30893728C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.30925951C>T" "" "benign" "" "0000660315" "1" "70" "6" "30886663" "30886663" "subst" "0" "00006" "VARS2_000004" "g.30886663G>A" "" "{PMID:Taylor 2014:25058219}" "" "NM_001167734.1:c.1135G>A" "" "Germline" "" "" "0" "" "" "g.30918886G>A" "" "likely pathogenic (recessive)" "" "0000660345" "2" "70" "6" "30889753" "30889753" "subst" "4.14845E-6" "00006" "VARS2_000003" "g.30889753C>A" "" "{PMID:Taylor 2014:25058219}" "" "NM_001167734.1:c.1877C>A" "" "Germline" "" "" "0" "" "" "g.30921976C>A" "" "likely pathogenic (recessive)" "" "0000669892" "3" "10" "6" "30882689" "30882689" "subst" "0.0501808" "03575" "VARS2_000027" "g.30882689C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs6926224}" "Germline" "" "rs6926224" "0" "" "" "g.30914912C>T" "" "benign" "" "0000669893" "3" "10" "6" "30882803" "30882803" "subst" "0.0501705" "03575" "VARS2_000024" "g.30882803G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs6926723}" "Germline" "" "rs6926723" "0" "" "" "g.30915026G>A" "" "benign" "" "0000669894" "3" "50" "6" "30892215" "30892215" "subst" "0.000864597" "03575" "VARS2_000028" "g.30892215C>T" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs138855624}" "Germline" "" "rs138855624" "0" "" "" "g.30924438C>T" "" "VUS" "" "0000720824" "0" "70" "6" "30886628" "30886628" "subst" "2.07393E-5" "02327" "VARS2_000001" "g.30886628C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000763753" "0" "50" "6" "30893728" "30893728" "subst" "0" "00000" "VARS2_000029" "g.30893728C>G" "" "{PMID:Duvvari 2016:27007659}" "" "3123C>G" "" "Germline" "" "" "0" "" "" "g.30925951C>G" "" "VUS" "" "0000763768" "0" "50" "6" "30893728" "30893728" "subst" "0" "00000" "VARS2_000029" "g.30893728C>G" "" "{PMID:Duvvari 2016:27007659}" "" "3123C>G" "" "Germline" "" "" "0" "" "" "g.30925951C>G" "" "VUS" "" "0000763777" "0" "50" "6" "30893728" "30893728" "subst" "0" "00000" "VARS2_000029" "g.30893728C>G" "" "{PMID:Duvvari 2016:27007659}" "" "3123C>G" "" "Germline" "" "" "0" "" "" "g.30925951C>G" "" "VUS" "" "0000802473" "0" "30" "6" "30883017" "30883017" "subst" "0.000142129" "01943" "GTF2H4_000009" "g.30883017A>G" "" "" "" "VARS2(NM_001167734.1):c.373+3A>G, VARS2(NM_020442.4):c.283+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811976" "3" "70" "6" "30889424" "30889424" "subst" "0.000559304" "00000" "VARS2_000030" "g.30889424C>T" "" "{PMID:Abu Diab 2019:30925032}" "" "c.1691C>T, p.(Ala564Val)" "homozygous" "Germline" "yes" "" "0" "" "" "g.30921647C>T" "" "likely pathogenic" "" "0000811977" "3" "70" "6" "30889424" "30889424" "subst" "0.000559304" "00000" "VARS2_000030" "g.30889424C>T" "" "{PMID:Abu Diab 2019:30925032}" "" "c.1691C>T, p.(Ala564Val)" "homozygous" "Germline" "yes" "" "0" "" "" "g.30921647C>T" "" "likely pathogenic" "" "0000887141" "0" "10" "6" "30888161" "30888161" "subst" "0.606361" "02327" "VARS2_000031" "g.30888161T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000977152" "0" "50" "6" "30879869" "30879869" "subst" "0" "01804" "GTF2H4_000010" "g.30879869C>T" "" "" "" "GTF2H4(NM_001517.5):c.904C>T (p.(His302Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995642" "0" "30" "6" "30883017" "30883017" "subst" "0.000142129" "01804" "GTF2H4_000009" "g.30883017A>G" "" "" "" "VARS2(NM_001167734.1):c.373+3A>G, VARS2(NM_020442.4):c.283+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035664" "0" "50" "6" "30884929" "30884929" "subst" "0.000235592" "01804" "GTF2H4_000011" "g.30884929G>A" "" "" "" "VARS2(NM_020442.6):c.801G>A (p.(Ala267=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035665" "0" "50" "6" "30885487" "30885488" "ins" "0" "01804" "GTF2H4_000012" "g.30885487_30885488insACACAGCTTCGACTGGCTGTG" "" "" "" "VARS2(NM_020442.6):c.889_890insACACAGCTTCGACTGGCTGTG (p.(Leu297delinsHisThrAlaSerThrGlyCysVal))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052291" "0" "50" "6" "30881999" "30881999" "subst" "0" "02327" "GTF2H4_000013" "g.30881999C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052292" "0" "70" "6" "30887868" "30887868" "subst" "0.000408359" "02327" "VARS2_000010" "g.30887868G>A" "" "" "" "VARS2(NM_001167733.1):c.748G>A (p.(Ala250Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001052293" "0" "50" "6" "30889968" "30889968" "subst" "4.15176E-6" "02327" "VARS2_000018" "g.30889968C>T" "" "" "" "VARS2(NM_001167733.1):c.1462C>T (p.(Arg488Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052294" "0" "50" "6" "30893763" "30893763" "subst" "4.14855E-6" "01804" "VARS2_000032" "g.30893763C>T" "" "" "" "VARS2(NM_020442.6):c.3068C>T (p.(Ala1023Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064519" "0" "90" "6" "30888503" "30888503" "subst" "7.68327E-5" "01804" "VARS2_000005" "g.30888503G>T" "" "" "" "VARS2(NM_020442.6):c.1456G>T (p.(Glu486*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 VARS2 ## Count = 53 "{{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}}" "0000031249" "00022557" "90" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "11" "0000187825" "00022557" "90" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "11" "0000187826" "00022557" "70" "1060" "0" "1060" "0" "c.1060G>A" "r.(?)" "p.(Asp354Asn)" "11" "0000188550" "00022557" "70" "1787" "0" "1787" "0" "c.1787C>A" "r.(?)" "p.(Ala596Asp)" "19" "0000188551" "00022557" "70" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Ala349Thr)" "11" "0000222857" "00022557" "70" "1456" "0" "1456" "0" "c.1456G>T" "r.(?)" "p.(Glu486*)" "15" "0000222858" "00022557" "70" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Ala717Thr)" "23" "0000330854" "00022557" "50" "-4340" "0" "-4340" "0" "c.-4340C>T" "r.(?)" "p.(=)" "" "0000330855" "00022557" "50" "259" "0" "259" "0" "c.259C>T" "r.(?)" "p.(Pro87Ser)" "" "0000330857" "00022557" "50" "547" "0" "547" "0" "c.547T>G" "r.(?)" "p.(Ser183Ala)" "" "0000330858" "00022557" "90" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Ala390Thr)" "" "0000330859" "00022557" "50" "1346" "0" "1346" "0" "c.1346G>A" "r.(?)" "p.(Trp449Ter)" "" "0000330860" "00022557" "50" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Thr567Ile)" "" "0000330861" "00022557" "70" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Arg628His)" "" "0000330862" "00022557" "50" "2684" "0" "2684" "0" "c.2684G>A" "r.(?)" "p.(Arg895His)" "" "0000330863" "00022557" "50" "3005" "0" "3005" "0" "c.3005G>A" "r.(?)" "p.(Arg1002Gln)" "" "0000528217" "00022557" "50" "263" "0" "263" "0" "c.263C>T" "r.(?)" "p.(Thr88Met)" "" "0000528218" "00022557" "30" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Val292=)" "" "0000528219" "00022557" "70" "1048" "0" "1048" "0" "c.1048G>A" "r.(?)" "p.(Val350Ile)" "" "0000528220" "00022557" "50" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Arg356Ter)" "" "0000528222" "00022557" "30" "1670" "0" "1670" "0" "c.1670C>A" "r.(?)" "p.(Ala557Asp)" "" "0000528223" "00022557" "50" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Cys)" "" "0000528224" "00022557" "30" "2090" "0" "2090" "0" "c.2090T>C" "r.(?)" "p.(Ile697Thr)" "" "0000528225" "00022557" "70" "3166" "0" "3166" "0" "c.3166C>T" "r.(?)" "p.(Pro1056Ser)" "" "0000610256" "00022557" "50" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Arg439Trp)" "" "0000610257" "00022557" "50" "1865" "0" "1865" "0" "c.1865T>C" "r.(?)" "p.(Leu622Pro)" "" "0000629321" "00022557" "90" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "" "0000629359" "00022557" "90" "1400" "0" "1400" "0" "c.1400G>A" "r.(?)" "p.(Arg467His)" "" "0000651909" "00022557" "10" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Gly64Arg)" "" "0000651910" "00022557" "10" "2412" "0" "2412" "0" "c.2412C>T" "r.(=)" "p.(=)" "" "0000655549" "00022557" "10" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Asp1011=)" "" "0000660315" "00022557" "70" "1045" "0" "1045" "0" "c.1045G>A" "r.(?)" "p.(Ala349Thr)" "" "0000660345" "00022557" "70" "1787" "0" "1787" "0" "c.1787C>A" "r.(?)" "p.(Ala596Asp)" "" "0000669892" "00022557" "10" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(His26Tyr)" "" "0000669893" "00022557" "10" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Gly64Arg)" "" "0000669894" "00022557" "50" "2551" "0" "2551" "0" "c.2551C>T" "r.(?)" "p.(Arg851Cys)" "" "0000720824" "00022557" "70" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Thr337Ile)" "" "0000763753" "00022557" "50" "3033" "0" "3033" "0" "c.3033C>G" "r.(?)" "p.(Asp1011Glu)" "" "0000763768" "00022557" "50" "3033" "0" "3033" "0" "c.3033C>G" "r.(?)" "p.(Asp1011Glu)" "" "0000763777" "00022557" "50" "3033" "0" "3033" "0" "c.3033C>G" "r.(?)" "p.(Asp1011Glu)" "" "0000802473" "00022557" "30" "283" "3" "283" "3" "c.283+3A>G" "r.spl?" "p.?" "" "0000811976" "00022557" "70" "1691" "0" "1691" "0" "c.1691C>T" "r.(?)" "p.(Ala564Val)" "" "0000811977" "00022557" "70" "1691" "0" "1691" "0" "c.1691C>T" "r.(?)" "p.(Ala564Val)" "" "0000887141" "00022557" "10" "1345" "0" "1345" "0" "c.1345T>C" "r.(?)" "p.(Trp449Arg)" "" "0000977152" "00022557" "50" "-2280" "0" "-2280" "0" "c.-2280C>T" "r.(?)" "p.(=)" "" "0000995642" "00022557" "30" "283" "3" "283" "3" "c.283+3A>G" "r.spl?" "p.?" "" "0001035664" "00022557" "50" "801" "0" "801" "0" "c.801G>A" "r.(?)" "p.(=)" "" "0001035665" "00022557" "50" "889" "0" "890" "0" "c.889_890insACACAGCTTCGACTGGCTGTG" "r.(?)" "p.(Leu297delinsHisThrAlaSerThrGlyCysVal)" "" "0001052291" "00022557" "50" "-150" "0" "-150" "0" "c.-150C>G" "r.(?)" "p.(=)" "" "0001052292" "00022557" "70" "1168" "0" "1168" "0" "c.1168G>A" "r.(?)" "p.(Ala390Thr)" "" "0001052293" "00022557" "50" "1882" "0" "1882" "0" "c.1882C>T" "r.(?)" "p.(Arg628Cys)" "" "0001052294" "00022557" "50" "3068" "0" "3068" "0" "c.3068C>T" "r.(?)" "p.(Ala1023Val)" "" "0001064519" "00022557" "90" "1456" "0" "1456" "0" "c.1456G>T" "r.(?)" "p.(Glu486*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000011593" "0000031249" "0000117094" "0000187825" "0000117094" "0000187826" "0000117583" "0000188550" "0000117583" "0000188551" "0000133618" "0000222857" "0000133618" "0000222858" "0000275357" "0000629321" "0000275357" "0000629359" "0000295220" "0000651909" "0000295221" "0000651910" "0000297706" "0000660315" "0000297706" "0000660345" "0000306204" "0000669892" "0000306205" "0000669893" "0000306206" "0000669894" "0000363232" "0000763753" "0000363234" "0000763768" "0000363235" "0000763777" "0000385099" "0000811976" "0000385100" "0000811977"