### LOVD-version 3000-210 ### 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "VARS2" "valyl-tRNA synthetase 2, mitochondrial" "6" "p21.33" "unknown" "NC_000006.11" "UD_136061771296" "" "" "" "1" "1" "21642" "57176" "612802" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "{{iNote}}" "{{chrom}}" "00001290" "VARS2" "valyl-tRNA synthetase 2, mitochondrial (putative), transcript variant 2" "001" "NM_020442.4" "" "NP_065175.4" "" "" "" "-167" "3441" "3192" "30881982" "30894236" "00001" "2013-11-12 22:00:16" "" "" "" "6" "00001291" "VARS2" "valyl-tRNA synthetase 2, mitochondrial (putative), transcript variant 3" "002" "NM_001167733.1" "" "NP_001161205.1" "" "" "" "-359" "3021" "2772" "30881982" "30894236" "00001" "2013-11-12 22:00:16" "" "" "" "6" "00001292" "VARS2" "valyl-tRNA synthetase 2, mitochondrial (putative), transcript variant 1" "003" "NM_001167734.1" "" "NP_001161206.1" "" "" "" "-81" "3531" "3282" "30882108" "30894236" "00001" "2013-11-12 22:00:16" "" "" "" "6" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00515" "615917" "Combined oxidative phosphorylation deficiency 20, 615917 (3)" "615917" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VARS2" "00515" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 13 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000001180" "0" "99" "6" "30886628" "30886628" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 07:38:47" "VARS2_000003" "g.30886628C>T" "" "" "" "NA" "subst" "0" ";" "4.540" "" "" "" "" "MSCV_0001180" "" "0000001181" "0" "99" "6" "30886663" "30886663" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-02 20:10:47" "VARS2_000001" "g.30886663G>A" "" "" "" "NA" "subst" "0" ";" "4.780" "" "" "" "" "MSCV_0001181" "" "0000001182" "0" "99" "6" "30889753" "30889753" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:14" "VARS2_000002" "g.30889753C>A" "" "" "" "NA" "subst" "0" ";" "4.940" "" "" "" "" "MSCV_0001182" "" "0000021674" "0" "77" "6" "30883762" "30883762" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:00:00" "VARS2_000008" "g.30883762C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021674" "" "0000021675" "0" "55" "6" "30886590" "30886590" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:51:52" "VARS2_000007" "g.30886590A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021675" "" "0000021676" "0" "99" "6" "30886628" "30886628" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:50:24" "VARS2_000003" "g.30886628C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001180" "" "0000021677" "0" "99" "6" "30886663" "30886663" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:50:44" "VARS2_000001" "g.30886663G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001181" "" "0000021678" "0" "55" "6" "30887868" "30887868" "subst" "35" "0.000118483" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:29" "VARS2_000004" "g.30887868G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021678" "" "0000021679" "0" "77" "6" "30888447" "30888447" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:32" "VARS2_000005" "g.30888447G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021679" "" "0000021680" "0" "77" "6" "30888508" "30888510" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:35" "VARS2_000006" "g.30888508_30888510del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021680" "" "0000021681" "0" "99" "6" "30889753" "30889753" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:22:38" "VARS2_000002" "g.30889753C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001182" "" "0000026442" "0" "00" "6" "30889936" "30889936" "subst" "35" "0.00011854" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:07:10" "VARS2_000010" "g.30889936C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026443" "0" "00" "6" "30893893" "30893893" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:00:10" "VARS2_000009" "g.30893893C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 39 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000001180" "00001290" "00" "1010" "0" "1010" "0" "c.1010C>T" "11/30" "p.(Thr337Ile)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001180" "00001291" "00" "590" "0" "590" "0" "c.590C>T" "10/29" "p.(Thr197Ile)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001180" "00001292" "00" "1100" "0" "1100" "0" "c.1100C>T" "11/30" "p.(Thr367Ile)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001181" "00001290" "00" "1045" "0" "1045" "0" "c.1045G>A" "11/30" "p.(Ala349Thr)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001181" "00001291" "00" "625" "0" "625" "0" "c.625G>A" "10/29" "p.(Ala209Thr)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000001181" "00001292" "00" "1135" "0" "1135" "0" "c.1135G>A" "11/30" "p.(Ala379Thr)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000001182" "00001290" "00" "1787" "0" "1787" "0" "c.1787C>A" "19/30" "p.(Ala596Asp)" "r.(?)" "possibly_damaging(0.691)" "" "missense_variant" "" "" "deleterious(0)" "0000001182" "00001291" "00" "1367" "0" "1367" "0" "c.1367C>A" "18/29" "p.(Ala456Asp)" "r.(?)" "possibly_damaging(0.691)" "" "missense_variant" "" "" "deleterious(0)" "0000001182" "00001292" "00" "1877" "0" "1877" "0" "c.1877C>A" "19/30" "p.(Ala626Asp)" "r.(?)" "possibly_damaging(0.747)" "" "missense_variant" "" "" "deleterious(0)" "0000021674" "00001290" "00" "511" "0" "511" "0" "c.511C>T" "" "p.(Arg171Trp)" "r.(?)" "" "" "" "" "" "-" "0000021674" "00001291" "00" "91" "0" "91" "0" "c.91C>T" "" "p.(Arg31Trp)" "r.(?)" "" "" "" "" "" "-" "0000021674" "00001292" "00" "601" "0" "601" "0" "c.601C>T" "" "p.(Arg201Trp)" "r.(?)" "" "" "" "" "" "-" "0000021675" "00001290" "00" "986" "-14" "986" "-14" "c.986-14A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021675" "00001291" "00" "566" "-14" "566" "-14" "c.566-14A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021675" "00001292" "00" "1076" "-14" "1076" "-14" "c.1076-14A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021676" "00001290" "00" "1010" "0" "1010" "0" "c.1010C>T" "" "p.(Thr337Ile)" "r.(?)" "" "" "" "" "" "-" "0000021676" "00001291" "00" "590" "0" "590" "0" "c.590C>T" "" "p.(Thr197Ile)" "r.(?)" "" "" "" "" "" "-" "0000021676" "00001292" "00" "1100" "0" "1100" "0" "c.1100C>T" "" "p.(Thr367Ile)" "r.(?)" "" "" "" "" "" "-" "0000021677" "00001290" "00" "1045" "0" "1045" "0" "c.1045G>A" "" "p.(Ala349Thr)" "r.(?)" "" "" "" "" "" "-" "0000021677" "00001291" "00" "625" "0" "625" "0" "c.625G>A" "" "p.(Ala209Thr)" "r.(?)" "" "" "" "" "" "-" "0000021677" "00001292" "00" "1135" "0" "1135" "0" "c.1135G>A" "" "p.(Ala379Thr)" "r.(?)" "" "" "" "" "" "-" "0000021678" "00001290" "00" "1168" "0" "1168" "0" "c.1168G>A" "" "p.(Ala390Thr)" "r.(?)" "" "" "" "" "" "-" "0000021678" "00001291" "00" "748" "0" "748" "0" "c.748G>A" "" "p.(Ala250Thr)" "r.(?)" "" "" "" "" "" "-" "0000021678" "00001292" "00" "1258" "0" "1258" "0" "c.1258G>A" "" "p.(Ala420Thr)" "r.(?)" "" "" "" "" "" "-" "0000021679" "00001290" "00" "1400" "0" "1400" "0" "c.1400G>C" "" "p.(Arg467Pro)" "r.(?)" "" "" "" "" "" "-" "0000021679" "00001291" "00" "980" "0" "980" "0" "c.980G>C" "" "p.(Arg327Pro)" "r.(?)" "" "" "" "" "" "-" "0000021679" "00001292" "00" "1490" "0" "1490" "0" "c.1490G>C" "" "p.(Arg497Pro)" "r.(?)" "" "" "" "" "" "-" "0000021680" "00001290" "00" "1461" "0" "1463" "0" "c.1461_1463del" "" "p.(Gly488del)" "r.(?)" "" "" "" "" "" "-" "0000021680" "00001291" "00" "1041" "0" "1043" "0" "c.1041_1043del" "" "p.(Gly348del)" "r.(?)" "" "" "" "" "" "-" "0000021680" "00001292" "00" "1551" "0" "1553" "0" "c.1551_1553del" "" "p.(Gly518del)" "r.(?)" "" "" "" "" "" "-" "0000021681" "00001290" "00" "1787" "0" "1787" "0" "c.1787C>A" "" "p.(Ala596Asp)" "r.(?)" "" "" "" "" "" "-" "0000021681" "00001291" "00" "1367" "0" "1367" "0" "c.1367C>A" "" "p.(Ala456Asp)" "r.(?)" "" "" "" "" "" "-" "0000021681" "00001292" "00" "1877" "0" "1877" "0" "c.1877C>A" "" "p.(Ala626Asp)" "r.(?)" "" "" "" "" "" "-" "0000026442" "00001290" "00" "1850" "0" "1850" "0" "c.1850C>T" "" "p.(Thr617Met)" "r.(?)" "" "" "" "" "" "-" "0000026442" "00001291" "00" "1430" "0" "1430" "0" "c.1430C>T" "" "p.(Thr477Met)" "r.(?)" "" "" "" "" "" "-" "0000026442" "00001292" "00" "1940" "0" "1940" "0" "c.1940C>T" "" "p.(Thr647Met)" "r.(?)" "" "" "" "" "" "-" "0000026443" "00001290" "00" "3098" "0" "3098" "0" "c.3098C>T" "" "p.(Ser1033Phe)" "r.(?)" "" "" "" "" "" "-" "0000026443" "00001291" "00" "2678" "0" "2678" "0" "c.2678C>T" "" "p.(Ser893Phe)" "r.(?)" "" "" "" "" "" "-" "0000026443" "00001292" "00" "3188" "0" "3188" "0" "c.3188C>T" "" "p.(Ser1063Phe)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0