### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARHGAP9) # 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}}" "ARHGAP9" "Rho GTPase activating protein 9" "12" "q13.3" "unknown" "NC_000012.11" "UD_132084552944" "" "https://www.LOVD.nl/ARHGAP9" "" "1" "14130" "64333" "610576" "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/ARHGAP9_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-10-18 11:24:43" "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}}" "00002774" "ARHGAP9" "transcript variant 1" "001" "NM_032496.2" "" "NP_115885.2" "" "" "" "-139" "2458" "2196" "57873633" "57866038" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 25 "{{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}}" "0000247171" "0" "30" "12" "57883768" "57883768" "subst" "0.000609196" "02330" "MARS_000017" "g.57883768A>G" "" "" "" "MARS1(NM_004990.4):c.490+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57489985A>G" "" "likely benign" "" "0000279608" "0" "10" "12" "57883193" "57883193" "subst" "0.00277776" "02330" "MARS_000015" "g.57883193C>T" "" "" "" "MARS1(NM_004990.4):c.280-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57489410C>T" "" "benign" "" "0000548769" "0" "50" "12" "57881916" "57881916" "subst" "0" "02330" "ARHGAP9_000002" "g.57881916G>C" "" "" "" "MARS1(NM_004990.4):c.43G>C (p.V15L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57488133G>C" "" "VUS" "" "0000548770" "0" "30" "12" "57884116" "57884116" "subst" "0.000731178" "02330" "ARHGAP9_000003" "g.57884116C>T" "" "" "" "MARS(NM_004990.3):c.617C>T (p.P206L), MARS1(NM_004990.4):c.617C>T (p.P206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490333C>T" "" "likely benign" "" "0000548771" "0" "30" "12" "57884116" "57884116" "subst" "0.000731178" "01943" "ARHGAP9_000003" "g.57884116C>T" "" "" "" "MARS(NM_004990.3):c.617C>T (p.P206L), MARS1(NM_004990.4):c.617C>T (p.P206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490333C>T" "" "likely benign" "" "0000548772" "0" "30" "12" "57884125" "57884125" "subst" "0.000849228" "02330" "ARHGAP9_000004" "g.57884125G>A" "" "" "" "MARS(NM_004990.4):c.626G>A (p.(Ser209Asn)), MARS1(NM_004990.4):c.626G>A (p.S209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490342G>A" "" "likely benign" "" "0000548773" "0" "30" "12" "57884337" "57884337" "subst" "0.00041824" "02330" "ARHGAP9_000005" "g.57884337C>T" "" "" "" "MARS(NM_004990.4):c.680C>T (p.(Thr227Ile)), MARS1(NM_004990.4):c.680C>T (p.T227I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490554C>T" "" "likely benign" "" "0000614317" "0" "30" "12" "57882792" "57882792" "subst" "0.000113234" "02330" "ARHGAP9_000008" "g.57882792C>T" "" "" "" "MARS1(NM_004990.4):c.110-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57489009C>T" "" "likely benign" "" "0000622944" "0" "30" "12" "57881856" "57881856" "subst" "0.000302374" "02330" "ARHGAP9_000006" "g.57881856C>T" "" "" "" "MARS1(NM_004990.4):c.-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57488073C>T" "" "likely benign" "" "0000622945" "0" "30" "12" "57881951" "57881951" "subst" "4.06947E-6" "01943" "ARHGAP9_000007" "g.57881951A>G" "" "" "" "MARS(NM_004990.3):c.78A>G (p.A26=), MARS1(NM_004990.4):c.78A>G (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57488168A>G" "" "likely benign" "" "0000622946" "0" "30" "12" "57883193" "57883193" "subst" "0.00277776" "02326" "MARS_000015" "g.57883193C>T" "" "" "" "MARS1(NM_004990.4):c.280-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57489410C>T" "" "likely benign" "" "0000622947" "0" "30" "12" "57884129" "57884129" "subst" "8.94098E-5" "02330" "ARHGAP9_000009" "g.57884129C>T" "" "" "" "MARS1(NM_004990.4):c.630C>T (p.P210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490346C>T" "" "likely benign" "" "0000805869" "0" "50" "12" "57883112" "57883112" "subst" "0" "02325" "ARHGAP9_000010" "g.57883112A>T" "" "" "" "MARS1(NM_004990.4):c.263A>T (p.E88V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805870" "0" "10" "12" "57884173" "57884173" "subst" "0.000713424" "02330" "ARHGAP9_000011" "g.57884173G>A" "" "" "" "MARS1(NM_004990.4):c.663+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890702" "0" "30" "12" "57881951" "57881951" "subst" "4.06947E-6" "02330" "ARHGAP9_000007" "g.57881951A>G" "" "" "" "MARS(NM_004990.3):c.78A>G (p.A26=), MARS1(NM_004990.4):c.78A>G (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890703" "0" "30" "12" "57883674" "57883674" "del" "6.09102E-5" "02325" "ARHGAP9_000012" "g.57883674del" "" "" "" "MARS1(NM_004990.4):c.415-5delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913916" "0" "50" "12" "57884356" "57884356" "subst" "0.000117756" "02330" "ARHGAP9_000013" "g.57884356T>G" "" "" "" "MARS1(NM_004990.4):c.699T>G (p.I233M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950005" "0" "30" "12" "57863433" "57863433" "subst" "0.0026993" "01804" "ARHGAP9_000014" "g.57863433C>T" "" "" "" "GLI1(NM_001160045.1):c.1144C>T (p.(Arg382Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950006" "0" "30" "12" "57865558" "57865558" "subst" "0.00551695" "01804" "ARHGAP9_000015" "g.57865558G>T" "" "" "" "GLI1(NM_001160045.1):c.2651G>T (p.(Gly884Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980397" "0" "30" "12" "57884125" "57884125" "subst" "0.000849228" "01804" "ARHGAP9_000004" "g.57884125G>A" "" "" "" "MARS(NM_004990.4):c.626G>A (p.(Ser209Asn)), MARS1(NM_004990.4):c.626G>A (p.S209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980398" "0" "30" "12" "57884337" "57884337" "subst" "0.00041824" "01804" "ARHGAP9_000005" "g.57884337C>T" "" "" "" "MARS(NM_004990.4):c.680C>T (p.(Thr227Ile)), MARS1(NM_004990.4):c.680C>T (p.T227I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000256" "0" "70" "12" "57860076" "57860076" "subst" "8.13517E-6" "01804" "ARHGAP9_000016" "g.57860076G>A" "" "" "" "GLI1(NM_005269.2):c.816G>A (p.(Trp272*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001054380" "0" "50" "12" "57859658" "57859658" "subst" "8.12203E-6" "01804" "ARHGAP9_000017" "g.57859658C>T" "" "" "" "GLI1(NM_005269.3):c.712C>T (p.(Arg238Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054381" "0" "50" "12" "57860014" "57860014" "subst" "0" "01804" "ARHGAP9_000018" "g.57860014C>A" "" "" "" "GLI1(NM_005269.3):c.763-9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054382" "0" "50" "12" "57861781" "57861781" "subst" "1.22451E-5" "01804" "ARHGAP9_000019" "g.57861781C>T" "" "" "" "GLI1(NM_005269.3):c.1082C>T (p.(Pro361Leu))" "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 ARHGAP9 ## Count = 25 "{{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}}" "0000247171" "00002774" "30" "-10274" "0" "-10274" "0" "c.-10274T>C" "r.(?)" "p.(=)" "" "0000279608" "00002774" "10" "-9699" "0" "-9699" "0" "c.-9699G>A" "r.(?)" "p.(=)" "" "0000548769" "00002774" "50" "-8422" "0" "-8422" "0" "c.-8422C>G" "r.(?)" "p.(=)" "" "0000548770" "00002774" "30" "-10622" "0" "-10622" "0" "c.-10622G>A" "r.(?)" "p.(=)" "" "0000548771" "00002774" "30" "-10622" "0" "-10622" "0" "c.-10622G>A" "r.(?)" "p.(=)" "" "0000548772" "00002774" "30" "-10631" "0" "-10631" "0" "c.-10631C>T" "r.(?)" "p.(=)" "" "0000548773" "00002774" "30" "-10843" "0" "-10843" "0" "c.-10843G>A" "r.(?)" "p.(=)" "" "0000614317" "00002774" "30" "-9298" "0" "-9298" "0" "c.-9298G>A" "r.(?)" "p.(=)" "" "0000622944" "00002774" "30" "-8362" "0" "-8362" "0" "c.-8362G>A" "r.(?)" "p.(=)" "" "0000622945" "00002774" "30" "-8457" "0" "-8457" "0" "c.-8457T>C" "r.(?)" "p.(=)" "" "0000622946" "00002774" "30" "-9699" "0" "-9699" "0" "c.-9699G>A" "r.(?)" "p.(=)" "" "0000622947" "00002774" "30" "-10635" "0" "-10635" "0" "c.-10635G>A" "r.(?)" "p.(=)" "" "0000805869" "00002774" "50" "-9618" "0" "-9618" "0" "c.-9618T>A" "r.(?)" "p.(=)" "" "0000805870" "00002774" "10" "-10679" "0" "-10679" "0" "c.-10679C>T" "r.(?)" "p.(=)" "" "0000890702" "00002774" "30" "-8457" "0" "-8457" "0" "c.-8457T>C" "r.(?)" "p.(=)" "" "0000890703" "00002774" "30" "-10180" "0" "-10180" "0" "c.-10180del" "r.(?)" "p.(=)" "" "0000913916" "00002774" "50" "-10862" "0" "-10862" "0" "c.-10862A>C" "r.(?)" "p.(=)" "" "0000950005" "00002774" "30" "5063" "0" "5063" "0" "c.*2867G>A" "r.(=)" "p.(=)" "" "0000950006" "00002774" "30" "2938" "0" "2938" "0" "c.*742C>A" "r.(=)" "p.(=)" "" "0000980397" "00002774" "30" "-10631" "0" "-10631" "0" "c.-10631C>T" "r.(?)" "p.(=)" "" "0000980398" "00002774" "30" "-10843" "0" "-10843" "0" "c.-10843G>A" "r.(?)" "p.(=)" "" "0001000256" "00002774" "70" "8420" "0" "8420" "0" "c.*6224C>T" "r.(=)" "p.(=)" "" "0001054380" "00002774" "50" "8838" "0" "8838" "0" "c.*6642G>A" "r.(=)" "p.(=)" "" "0001054381" "00002774" "50" "8482" "0" "8482" "0" "c.*6286G>T" "r.(=)" "p.(=)" "" "0001054382" "00002774" "50" "6715" "0" "6715" "0" "c.*4519G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0