### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KIAA1244)
# 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}}"
"KIAA1244" "KIAA1244" "6" "q23.3" "unknown" "NC_000006.11" "UD_136087961728" "" "https://www.LOVD.nl/ARFGEF3" "" "1" "21213" "57221" "617411" "1" "1" "1" "1" "NOTE: gene name changed from KIAA1244 to ARFGEF3\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/KIAA1244_codingDNA.html" "1" "" "NOTE: gene name changed from KIAA1244 to ARFGEF3" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-21 13:34:05" "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}}"
"00010529" "KIAA1244" "KIAA1244" "001" "NM_020340.4" "" "NP_065073.3" "" "" "" "-171" "14711" "6534" "138483053" "138665800" "" "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}}"
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00412362" "" "" "" "1" "" "00006" "{PMID:Halvardson 2016:27334371}" "" "F" "" "Sweden" "" "0" "" "" "" "Fam6"
"00428069" "" "" "" "1" "" "00006" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Israel" "" "0" "" "" "Arab" "Pat8"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}" "{{diseaseid}}"
"00412362" "05611"
"00428069" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05611
## Count = 2
"{{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}}"
"0000304367" "05611" "00412362" "00006" "Isolated (sporadic)" "" "psychomotor developmental dealy, generalized epilepsy, delayed speech development, encephalopathy" "" "" "" "" "" "" "" "intellectual disability, epilepsy"
"0000319015" "05611" "00428069" "00006" "Isolated (sporadic)" "3y9m" "brith at term, weight 3kg (50th%ile), , OFC 34 cm (50th%ile); absent speech; delayed gross motor development; severe delayed fine motor milestones; severe intellectual disability; seizures; autism; mild hypotonia; MRI brain subtle interdigitation of inferomedial frontal gyri; no behavior abnormalities; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; long palpebral fissures, small hands and feet; no congenital anomalies; ataxia" "" "" "" "" "" "" "" "neurodevelopmental dealy"
## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000413634" "00412362" "1" "00006" "00006" "2022-06-27 21:35:38" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000429481" "00428069" "1" "00006" "00006" "2022-12-21 10:47:09" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
## 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 = 16
"{{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}}"
"0000254762" "0" "30" "6" "138629921" "138629921" "subst" "0" "01943" "KIAA1244_000002" "g.138629921A>G" "" "" "" "ARFGEF3(NM_020340.5):c.4019A>G (p.N1340S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138308784A>G" "" "likely benign" ""
"0000262858" "0" "30" "6" "138566720" "138566720" "subst" "8.46676E-5" "01943" "KIAA1244_000001" "g.138566720C>T" "" "" "" "ARFGEF3(NM_020340.5):c.657C>T (p.A219=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.138245583C>T" "" "likely benign" ""
"0000527338" "0" "30" "6" "138612938" "138612938" "subst" "0" "01943" "KIAA1244_000003" "g.138612938C>A" "" "" "" "ARFGEF3(NM_020340.5):c.3116C>A (p.T1039N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138291801C>A" "" "likely benign" ""
"0000527339" "0" "50" "6" "138640905" "138640905" "subst" "8.12572E-6" "01943" "KIAA1244_000004" "g.138640905C>T" "" "" "" "ARFGEF3(NM_020340.5):c.4540C>T (p.R1514W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.138319768C>T" "" "VUS" ""
"0000689636" "0" "50" "6" "138576676" "138576676" "subst" "4.06217E-6" "01943" "KIAA1244_000005" "g.138576676G>A" "" "" "" "ARFGEF3(NM_020340.5):c.874G>A (p.D292N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000860185" "0" "90" "6" "138576873" "138576873" "subst" "0" "01943" "KIAA1244_000006" "g.138576873G>C" "" "" "" "ARFGEF3(NM_020340.5):c.1071G>C (p.Q357H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000871164" "0" "50" "6" "138576840" "138576840" "subst" "0" "00006" "KIAA1244_000007" "g.138576840C>T" "" "{PMID:Halvardson 2016:27334371}" "" "C1038T (L346L)" "" "De novo" "" "" "0" "" "" "" "" "VUS" ""
"0000908999" "3" "70" "6" "138584011" "138584011" "subst" "0" "00006" "KIAA1244_000008" "g.138584011G>T" "" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "" "" "" "Germline" "" "" "0" "" "" "g.138262874G>T" "" "VUS" ""
"0000912411" "0" "50" "6" "138619860" "138619860" "subst" "0" "02325" "KIAA1244_000009" "g.138619860C>T" "" "" "" "ARFGEF3(NM_020340.5):c.3766C>T (p.L1256F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948662" "0" "50" "6" "138584706" "138584706" "subst" "0.000261359" "02325" "KIAA1244_000010" "g.138584706G>T" "" "" "" "ARFGEF3(NM_020340.5):c.2086G>T (p.V696L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948663" "0" "50" "6" "138655640" "138655640" "subst" "0" "02325" "KIAA1244_000011" "g.138655640T>C" "" "" "" "ARFGEF3(NM_020340.5):c.5657T>C (p.L1886S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995353" "0" "50" "6" "138575088" "138575088" "subst" "0.000751893" "02325" "KIAA1244_000012" "g.138575088T>C" "" "" "" "ARFGEF3(NM_020340.5):c.737T>C (p.M246T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995354" "0" "50" "6" "138576754" "138576754" "subst" "0" "02325" "KIAA1244_000013" "g.138576754G>A" "" "" "" "ARFGEF3(NM_020340.5):c.952G>A (p.V318M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001025175" "0" "30" "6" "138583880" "138583880" "subst" "2.03832E-5" "02325" "KIAA1244_000014" "g.138583880C>T" "" "" "" "ARFGEF3(NM_020340.5):c.1260C>T (p.I420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001025176" "0" "30" "6" "138608205" "138608205" "subst" "0.000280851" "02325" "KIAA1244_000015" "g.138608205C>G" "" "" "" "ARFGEF3(NM_020340.5):c.2786-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001035497" "0" "50" "6" "138607149" "138607149" "subst" "4.10745E-6" "01804" "KIAA1244_000016" "g.138607149C>T" "" "" "" "ARFGEF3(NM_020340.5):c.2528C>T (p.(Pro843Leu))" "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 KIAA1244
## Count = 16
"{{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}}"
"0000254762" "00010529" "30" "4019" "0" "4019" "0" "c.4019A>G" "r.(?)" "p.(Asn1340Ser)" ""
"0000262858" "00010529" "30" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Ala219=)" ""
"0000527338" "00010529" "30" "3116" "0" "3116" "0" "c.3116C>A" "r.(?)" "p.(Thr1039Asn)" ""
"0000527339" "00010529" "50" "4540" "0" "4540" "0" "c.4540C>T" "r.(?)" "p.(Arg1514Trp)" ""
"0000689636" "00010529" "50" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Asp292Asn)" ""
"0000860185" "00010529" "90" "1071" "0" "1071" "0" "c.1071G>C" "r.(?)" "p.(Gln357His)" ""
"0000871164" "00010529" "50" "1038" "0" "1038" "0" "c.1038C>T" "r.(=)" "p.(=)" ""
"0000908999" "00010529" "70" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Gly464Val)" ""
"0000912411" "00010529" "50" "3766" "0" "3766" "0" "c.3766C>T" "r.(?)" "p.(Leu1256Phe)" ""
"0000948662" "00010529" "50" "2086" "0" "2086" "0" "c.2086G>T" "r.(?)" "p.(Val696Leu)" ""
"0000948663" "00010529" "50" "5657" "0" "5657" "0" "c.5657T>C" "r.(?)" "p.(Leu1886Ser)" ""
"0000995353" "00010529" "50" "737" "0" "737" "0" "c.737T>C" "r.(?)" "p.(Met246Thr)" ""
"0000995354" "00010529" "50" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Val318Met)" ""
"0001025175" "00010529" "30" "1260" "0" "1260" "0" "c.1260C>T" "r.(?)" "p.(=)" ""
"0001025176" "00010529" "30" "2786" "-6" "2786" "-6" "c.2786-6C>G" "r.(=)" "p.(=)" ""
"0001035497" "00010529" "50" "2528" "0" "2528" "0" "c.2528C>T" "r.(?)" "p.(Pro843Leu)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}" "{{variantid}}"
"0000413634" "0000871164"
"0000429481" "0000908999"