### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ARHGEF38) # 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}}" "ARHGEF38" "Rho guanine nucleotide exchange factor (GEF) 38" "4" "q24" "unknown" "NC_000004.11" "UD_132465519064" "" "https://www.LOVD.nl/ARHGEF38" "" "1" "25968" "54848" "619919" "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/ARHGEF38_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-22 13:52:10" "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}}" "00025782" "ARHGEF38" "transcript variant 1" "002" "NM_001242729.1" "" "NP_001229658.1" "" "" "" "-146" "5310" "2334" "106473777" "106602070" "00006" "2022-12-22 13:48:13" "" "" ## 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}}" "06989" "cleft" "cleft lip with/without cleft palate" "" "" "" "" "" "00006" "2022-12-23 13:40:13" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{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}}" "00428161" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "ARHGEF38-Pat1" "00428162" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "ARHGEF38-Pat2" "00428163" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "ARHGEF38-Pat3" "00428164" "" "" "" "1" "" "00006" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "" "" "" "0" "" "" "" "ARHGEF38-Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00428161" "06989" "00428162" "06989" "00428163" "06989" "00428164" "06989" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 06989 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000319079" "06989" "00428161" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip and palate" "0000319080" "06989" "00428162" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip" "0000319081" "06989" "00428163" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "bilateral non-syndromic cleft lip and palate" "0000319082" "06989" "00428164" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "left-sided non-syndromic cleft lip and palate" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000429572" "00428161" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429573" "00428162" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429574" "00428163" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" "0000429575" "00428164" "1" "00006" "00006" "2022-12-23 13:41:41" "" "" "arrayCGH" "DNA" "" "" ## 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 = 10 "{{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}}" "0000521121" "0" "50" "4" "106588712" "106588712" "subst" "5.23013E-5" "01943" "ARHGEF38_000001" "g.106588712T>G" "" "" "" "ARHGEF38(NM_001242729.2):c.2000T>G (p.L667R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.105667555T>G" "" "VUS" "" "0000677141" "0" "50" "4" "106566465" "106566465" "subst" "0.000186874" "01943" "ARHGEF38_000002" "g.106566465C>A" "" "" "" "ARHGEF38(NM_001242729.2):c.795C>A (p.Y265*, p.(Tyr265*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677142" "0" "30" "4" "106576830" "106576830" "subst" "7.52525E-6" "01943" "ARHGEF38_000003" "g.106576830T>C" "" "" "" "ARHGEF38(NM_001242729.2):c.1184T>C (p.M395T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677143" "0" "50" "4" "106588717" "106588717" "subst" "0.000141937" "01943" "ARHGEF38_000004" "g.106588717G>A" "" "" "" "ARHGEF38(NM_001242729.2):c.2005G>A (p.V669M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000909154" "0" "70" "4" "106534540" "106534665" "del" "0" "00006" "ARHGEF38_000005" "g.(106510593_106534540)_(106534665_106552054)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(105589436_105613383)_(105613508_105630897)del" "" "likely pathogenic" "" "0000909155" "0" "70" "4" "106534540" "106534665" "del" "0" "00006" "ARHGEF38_000005" "g.(106510593_106534540)_(106534665_106552054)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(105589436_105613383)_(105613508_105630897)del" "" "likely pathogenic" "" "0000909156" "0" "70" "4" "106534540" "106534665" "del" "0" "00006" "ARHGEF38_000005" "g.(106510593_106534540)_(106534665_106552054)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(105589436_105613383)_(105613508_105630897)del" "" "likely pathogenic" "" "0000909157" "0" "70" "4" "106534540" "106534665" "del" "0" "00006" "ARHGEF38_000005" "g.(106510593_106534540)_(106534665_106552054)del" "" "{PMID:Lansdon 2023:36493769}, {DOI:Lansdon 2023:10.1016/j.ajhg.2022.11.012}" "" "" "variant estimated from figure; reported as gene involved in cleft lip with/without cleft palate" "Germline/De novo (untested)" "" "" "0" "" "" "g.(105589436_105613383)_(105613508_105630897)del" "" "likely pathogenic" "" "0000976050" "0" "50" "4" "106580304" "106580304" "subst" "0" "01804" "ARHGEF38_000006" "g.106580304A>T" "" "" "" "ARHGEF38(NM_001242729.2):c.1327A>T (p.(Lys443Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034241" "0" "50" "4" "106566465" "106566465" "subst" "0.000186874" "01804" "ARHGEF38_000002" "g.106566465C>A" "" "" "" "ARHGEF38(NM_001242729.2):c.795C>A (p.Y265*, p.(Tyr265*))" "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 ARHGEF38 ## Count = 10 "{{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}}" "0000521121" "00025782" "50" "2000" "0" "2000" "0" "c.2000T>G" "r.(?)" "p.(Leu667Arg)" "" "0000677141" "00025782" "50" "795" "0" "795" "0" "c.795C>A" "r.(?)" "p.(Tyr265Ter)" "" "0000677142" "00025782" "30" "1184" "0" "1184" "0" "c.1184T>C" "r.(?)" "p.(Met395Thr)" "" "0000677143" "00025782" "50" "2005" "0" "2005" "0" "c.2005G>A" "r.(?)" "p.(Val669Met)" "" "0000909154" "00025782" "70" "385" "-1" "508" "1" "c.(384+1_385-1)_(508+1_509-1)del" "r.?" "p.?" "" "0000909155" "00025782" "70" "385" "-1" "508" "1" "c.(384+1_385-1)_(508+1_509-1)del" "r.?" "p.?" "" "0000909156" "00025782" "70" "385" "-1" "508" "1" "c.(384+1_385-1)_(508+1_509-1)del" "r.?" "p.?" "" "0000909157" "00025782" "70" "385" "-1" "508" "1" "c.(384+1_385-1)_(508+1_509-1)del" "r.?" "p.?" "" "0000976050" "00025782" "50" "1327" "0" "1327" "0" "c.1327A>T" "r.(?)" "p.(Lys443*)" "" "0001034241" "00025782" "50" "795" "0" "795" "0" "c.795C>A" "r.(?)" "p.(Tyr265Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000429572" "0000909154" "0000429573" "0000909155" "0000429574" "0000909156" "0000429575" "0000909157"