### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IMPDH2) # 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}}" "IMPDH2" "IMP (inosine 5\'-monophosphate) dehydrogenase 2" "3" "p21.2" "unknown" "NG_012091.1" "UD_132118938598" "" "https://www.LOVD.nl/IMPDH2" "" "1" "6053" "3615" "146691" "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/IMPDH2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-18 09:18:40" "00000" "2025-05-05 21:14:00" ## 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}}" "00010020" "IMPDH2" "IMP (inosine 5\'-monophosphate) dehydrogenase 2" "001" "NM_000884.2" "" "NP_000875.2" "" "" "" "-92" "1603" "1545" "49066875" "49061758" "" "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}}" "05909" "IMPDH2V" "activity, enzyme, IMPDH2, variation in" "" "617995" "" "" "" "00006" "2021-03-18 09:18:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IMPDH2" "05909" ## 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 05909 ## 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 = 17 "{{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}}" "0000520155" "0" "30" "3" "49070047" "49070047" "subst" "0" "01804" "IMPDH2_000002" "g.49070047T>C" "" "" "" "QRICH1(NM_017730.2):c.2047+8A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032614T>C" "" "likely benign" "" "0000654984" "0" "30" "3" "49059582" "49059582" "subst" "3.00796E-5" "01943" "IMPDH2_000003" "g.49059582C>T" "" "" "" "NDUFAF3(NM_199069.1):c.5C>T (p.A2V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49022149C>T" "" "likely benign" "" "0000677031" "0" "50" "3" "49059789" "49059789" "subst" "2.52442E-5" "01943" "IMPDH2_000005" "g.49059789C>G" "" "" "" "NDUFAF3(NM_199069.1):c.88C>G (p.R30G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677032" "0" "50" "3" "49059873" "49059873" "subst" "0" "01943" "IMPDH2_000006" "g.49059873A>G" "" "" "" "NDUFAF3(NM_199073.1):c.1A>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677033" "0" "30" "3" "49059911" "49059911" "subst" "0.000102244" "01943" "IMPDH2_000007" "g.49059911A>C" "" "" "" "NDUFAF3(NM_199069.1):c.210A>C (p.I70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719492" "0" "90" "3" "49060520" "49060521" "del" "0" "01943" "IMPDH2_000008" "g.49060520_49060521del" "" "" "" "NDUFAF3(NM_199069.1):c.470_471delGT (p.C157Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000801285" "0" "30" "3" "49060125" "49060125" "subst" "0.000255854" "01943" "DALRD3_000004" "g.49060125C>G" "" "" "" "NDUFAF3(NM_199069.1):c.271-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801286" "0" "70" "3" "49060411" "49060411" "subst" "0" "01943" "DALRD3_000005" "g.49060411T>G" "" "" "" "NDUFAF3(NM_199069.1):c.438+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801287" "0" "70" "3" "49070144" "49070147" "del" "0" "02327" "IMPDH2_000009" "g.49070144_49070147del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000859073" "0" "50" "3" "49067983" "49067983" "subst" "2.03171E-5" "02325" "IMPDH2_000010" "g.49067983T>C" "" "" "" "QRICH1(NM_017730.4):c.2233A>G (p.I745V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911962" "0" "50" "3" "49064190" "49064190" "subst" "4.06055E-6" "02325" "IMPDH2_000011" "g.49064190A>G" "" "" "" "IMPDH2(NM_000884.3):c.749T>C (p.I250T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911963" "0" "50" "3" "49065217" "49065217" "subst" "0.000138059" "02325" "IMPDH2_000012" "g.49065217G>A" "" "" "" "IMPDH2(NM_000884.3):c.457C>T (p.R153C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975886" "0" "70" "3" "49057378" "49057379" "ins" "0" "01804" "IMPDH2_000013" "g.49057378_49057379insC" "" "" "" "QRICH1(NM_198880.3):c.821dup (p.(Gln275Profs*29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993769" "0" "30" "3" "49068036" "49068036" "subst" "0" "01804" "IMPDH2_000014" "g.49068036G>A" "" "" "" "QRICH1(NM_198880.1):c.2180C>T (p.(Thr727Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024834" "0" "70" "3" "49070150" "49070150" "subst" "0" "02329" "IMPDH2_000015" "g.49070150A>G" "" "" "" "QRICH1(NM_017730.4):c.1952T>C (p.L651S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034031" "0" "50" "3" "49062387" "49062387" "subst" "4.06075E-6" "01804" "IMPDH2_000016" "g.49062387C>T" "" "" "" "IMPDH2(NM_000884.3):c.1237G>A (p.(Gly413Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034032" "0" "50" "3" "49070570" "49070570" "subst" "9.45707E-6" "01804" "IMPDH2_000017" "g.49070570G>A" "" "" "" "QRICH1(NM_198880.3):c.1878C>T (p.(Leu626=))" "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 IMPDH2 ## Count = 17 "{{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}}" "0000520155" "00010020" "30" "-3264" "0" "-3264" "0" "c.-3264A>G" "r.(?)" "p.(=)" "" "0000654984" "00010020" "30" "3779" "0" "3779" "0" "c.*2234G>A" "r.(=)" "p.(=)" "" "0000677031" "00010020" "50" "3572" "0" "3572" "0" "c.*2027G>C" "r.(=)" "p.(=)" "" "0000677032" "00010020" "50" "3488" "0" "3488" "0" "c.*1943T>C" "r.(=)" "p.(=)" "" "0000677033" "00010020" "30" "3450" "0" "3450" "0" "c.*1905T>G" "r.(=)" "p.(=)" "" "0000719492" "00010020" "90" "2843" "0" "2844" "0" "c.*1298_*1299del" "r.(=)" "p.(=)" "" "0000801285" "00010020" "30" "3236" "0" "3236" "0" "c.*1691G>C" "r.(=)" "p.(=)" "" "0000801286" "00010020" "70" "2950" "0" "2950" "0" "c.*1405A>C" "r.(=)" "p.(=)" "" "0000801287" "00010020" "70" "-3360" "0" "-3357" "0" "c.-3360_-3357del" "r.(?)" "p.(=)" "" "0000859073" "00010020" "50" "-1200" "0" "-1200" "0" "c.-1200A>G" "r.(?)" "p.(=)" "" "0000911962" "00010020" "50" "749" "0" "749" "0" "c.749T>C" "r.(?)" "p.(Ile250Thr)" "" "0000911963" "00010020" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Cys)" "" "0000975886" "00010020" "70" "5982" "0" "5983" "0" "c.*4437_*4438insG" "r.(=)" "p.(=)" "" "0000993769" "00010020" "30" "-1253" "0" "-1253" "0" "c.-1253C>T" "r.(?)" "p.(=)" "" "0001024834" "00010020" "70" "-3367" "0" "-3367" "0" "c.-3367T>C" "r.(?)" "p.(=)" "" "0001034031" "00010020" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Gly413Ser)" "" "0001034032" "00010020" "50" "-3787" "0" "-3787" "0" "c.-3787C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0