### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IRS2) # 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}}" "IRS2" "insulin receptor substrate 2" "13" "q34" "unknown" "NG_008154.1" "UD_132118634648" "" "http://www.LOVD.nl//IRS2" "" "1" "6126" "8660" "600797" "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/IRS2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-07-20 08:54:50" "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}}" "00010148" "IRS2" "insulin receptor substrate 2" "001" "NM_003749.2" "" "NP_003740.2" "" "" "" "-514" "6484" "4017" "110438914" "110406184" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00151" "NIDDM" "diabetes mellitus, type II (NIDDM)" "AD" "125853" "" "" "" "00001" "2013-06-14 15:56:30" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IRS2" "00151" ## 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 ## ## Note: Only showing Phenotype columns active for Diseases 00151 ## 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 = 12 "{{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}}" "0000285359" "0" "10" "13" "110435766" "110435766" "subst" "0.00359549" "02326" "IRS2_000004" "g.110435766C>T" "" "" "" "IRS2(NM_003749.3):c.2635G>A (p.G879S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109783419C>T" "" "benign" "" "0000285360" "0" "10" "13" "110435756" "110435756" "subst" "0.00376519" "02326" "IRS2_000003" "g.110435756C>G" "" "" "" "IRS2(NM_003749.3):c.2645G>C (p.G882A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109783409C>G" "" "benign" "" "0000285361" "0" "10" "13" "110435406" "110435406" "subst" "0.00412476" "02326" "IRS2_000001" "g.110435406C>T" "" "" "" "IRS2(NM_003749.3):c.2995G>A (p.V999M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109783059C>T" "" "benign" "" "0000285362" "0" "30" "13" "110438339" "110438341" "del" "0" "02326" "IRS2_000010" "g.110438339_110438341del" "" "" "" "IRS2(NM_003749.3):c.82_84delAAC (p.N28del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.109785992_109785994del" "" "likely benign" "" "0000549741" "0" "30" "13" "110436319" "110436321" "dup" "0" "01943" "IRS2_000011" "g.110436319_110436321dup" "" "" "" "IRS2(NM_003749.2):c.2102_2104dupCCG (p.(Ala701dup)), IRS2(NM_003749.2):c.2102_2104dupCCG (p.A701dup), IRS2(NM_003749.3):c.2102_2104dupCCG (p.A701dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109783972_109783974dup" "" "likely benign" "" "0000549742" "0" "30" "13" "110436319" "110436321" "dup" "0" "02326" "IRS2_000011" "g.110436319_110436321dup" "" "" "" "IRS2(NM_003749.2):c.2102_2104dupCCG (p.(Ala701dup)), IRS2(NM_003749.2):c.2102_2104dupCCG (p.A701dup), IRS2(NM_003749.3):c.2102_2104dupCCG (p.A701dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.109783972_109783974dup" "" "likely benign" "" "0000724330" "0" "30" "13" "110435551" "110435551" "subst" "0.00147286" "02330" "IRS2_000002" "g.110435551G>T" "" "" "" "IRS2(NM_003749.3):c.2850C>A (p.S950=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724331" "0" "30" "13" "110436400" "110436400" "subst" "0" "02330" "IRS2_000006" "g.110436400G>A" "" "" "" "IRS2(NM_003749.3):c.2001C>T (p.S667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724332" "0" "30" "13" "110436646" "110436646" "subst" "0" "02330" "IRS2_000007" "g.110436646C>T" "" "" "" "IRS2(NM_003749.3):c.1755G>A (p.R585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724333" "0" "30" "13" "110437855" "110437855" "subst" "0" "02330" "IRS2_000009" "g.110437855G>A" "" "" "" "IRS2(NM_003749.3):c.546C>T (p.D182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000406" "0" "30" "13" "110436319" "110436321" "dup" "0" "01804" "IRS2_000011" "g.110436319_110436321dup" "" "" "" "IRS2(NM_003749.2):c.2102_2104dupCCG (p.(Ala701dup)), IRS2(NM_003749.2):c.2102_2104dupCCG (p.A701dup), IRS2(NM_003749.3):c.2102_2104dupCCG (p.A701dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001054720" "0" "50" "13" "110436376" "110436376" "subst" "0" "01804" "IRS2_000013" "g.110436376G>T" "" "" "" "IRS2(NM_003749.3):c.2025C>A (p.(Tyr675*))" "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 IRS2 ## Count = 12 "{{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}}" "0000285359" "00010148" "10" "2635" "0" "2635" "0" "c.2635G>A" "r.(?)" "p.(Gly879Ser)" "" "0000285360" "00010148" "10" "2645" "0" "2645" "0" "c.2645G>C" "r.(?)" "p.(Gly882Ala)" "" "0000285361" "00010148" "10" "2995" "0" "2995" "0" "c.2995G>A" "r.(?)" "p.(Val999Met)" "" "0000285362" "00010148" "30" "82" "0" "84" "0" "c.82_84del" "r.(?)" "p.(Asn28del)" "" "0000549741" "00010148" "30" "2102" "0" "2104" "0" "c.2102_2104dup" "r.(?)" "p.(Ala701dup)" "" "0000549742" "00010148" "30" "2102" "0" "2104" "0" "c.2102_2104dup" "r.(?)" "p.(Ala701dup)" "" "0000724330" "00010148" "30" "2850" "0" "2850" "0" "c.2850C>A" "r.(?)" "p.(Ser950=)" "" "0000724331" "00010148" "30" "2001" "0" "2001" "0" "c.2001C>T" "r.(?)" "p.(Ser667=)" "" "0000724332" "00010148" "30" "1755" "0" "1755" "0" "c.1755G>A" "r.(?)" "p.(Arg585=)" "" "0000724333" "00010148" "30" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Asp182=)" "" "0001000406" "00010148" "30" "2102" "0" "2104" "0" "c.2102_2104dup" "r.(?)" "p.(Ala701dup)" "" "0001054720" "00010148" "50" "2025" "0" "2025" "0" "c.2025C>A" "r.(?)" "p.(Tyr675*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0