### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIF23) # 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}}" "KIF23" "kinesin family member 23" "15" "q23" "unknown" "NG_042269.1" "UD_132378446715" "" "https://www.LOVD.nl/KIF23" "" "1" "6392" "9493" "605064" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-12 18:58:24" "00000" "2024-08-28 13:16:32" ## 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}}" "00010605" "KIF23" "transcript variant 2" "002" "NM_004856.5" "" "NP_004847.2" "" "" "" "-178" "3189" "2571" "69706627" "69740764" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## 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}}" "00050580" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00150207" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5333" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00050580" "00198" "00150207" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037192" "00198" "00050580" "00006" "Unknown" "" "patent ductus arteriosus, feeding difficulties in infancy, plagiocephaly, asymmetry of the ears, single transverse palmar crease, gingival overgrowth, skin dimples" "" "" "" "" "" "" "" "" "" "" "" "0000122609" "00198" "00150207" "00006" "Unknown" "" "intellectual diability, microcephaly" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000050525" "00050580" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000151062" "00150207" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000151062" "KIF23" ## 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}}" "0000079505" "0" "90" "15" "67629083" "72199082" "del" "0" "00006" "MAP2K5_000011" "g.67629083_72199082del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000244228" "3" "90" "15" "69718429" "69718429" "subst" "0" "00006" "KIF23_000001" "g.69718429T>A" "" "{PMID:Karaca 2015:26539891}" "" "NM_004856: c.T755A; p.L252H" "" "Germline" "" "" "0" "" "" "g.69426090T>A" "" "pathogenic" "" "0000324170" "0" "50" "15" "69709783" "69709783" "subst" "0.00153191" "01804" "KIF23_000002" "g.69709783A>G" "" "" "" "KIF23(NM_001281301.1):c.-51A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69417444A>G" "" "VUS" "" "0000555265" "0" "10" "15" "69709792" "69709792" "subst" "0.0533348" "02327" "KIF23_000003" "g.69709792C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69417453C>T" "" "benign" "" "0000555267" "0" "10" "15" "69715488" "69715488" "subst" "0" "02327" "KIF23_000005" "g.69715488C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69423149C>T" "" "benign" "" "0000555268" "0" "10" "15" "69728068" "69728068" "subst" "4.06081E-6" "02327" "KIF23_000006" "g.69728068C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69435729C>T" "" "benign" "" "0000555269" "0" "10" "15" "69728949" "69728949" "subst" "0.889573" "02327" "KIF23_000007" "g.69728949A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69436610A>G" "" "benign" "" "0000555270" "0" "10" "15" "69729049" "69729049" "subst" "0.0130721" "02327" "KIF23_000008" "g.69729049T>C" "" "" "" "KIF23(NM_001281301.1):c.1213T>C (p.(Phe405Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69436710T>C" "" "benign" "" "0000555271" "0" "10" "15" "69732736" "69732736" "subst" "0.889282" "02327" "KIF23_000009" "g.69732736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69440397C>T" "" "benign" "" "0000615482" "0" "30" "15" "69728530" "69728530" "subst" "0.0468803" "01804" "KIF23_000010" "g.69728530A>C" "" "" "" "KIF23(NM_001281301.1):c.996A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69436191A>C" "" "likely benign" "" "0000657645" "0" "30" "15" "69733111" "69733111" "subst" "1.7596E-5" "01804" "KIF23_000011" "g.69733111C>T" "" "" "" "KIF23(NM_001281301.1):c.1742C>T (p.(Ser581Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69440772C>T" "" "likely benign" "" "0000691842" "0" "30" "15" "69729049" "69729049" "subst" "0.0130721" "01804" "KIF23_000008" "g.69729049T>C" "" "" "" "KIF23(NM_001281301.1):c.1213T>C (p.(Phe405Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926022" "0" "30" "15" "69728976" "69728976" "subst" "0.000536463" "02326" "KIF23_000012" "g.69728976T>C" "" "" "" "KIF23(NM_138555.4):c.1470T>C (p.D490=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930421" "0" "50" "15" "69732419" "69732422" "del" "0" "02325" "KIF23_000013" "g.69732419_69732422del" "" "" "" "KIF23(NM_138555.4):c.1887+3_1887+6delGAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001619" "0" "50" "15" "69709737" "69709737" "subst" "4.1263E-6" "01804" "KIF23_000014" "g.69709737C>T" "" "" "" "KIF23(NM_138555.3):c.97C>T (p.(Arg33Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001620" "0" "30" "15" "69713988" "69713988" "subst" "0.000601616" "02326" "KIF23_000015" "g.69713988T>C" "" "" "" "KIF23(NM_138555.4):c.213T>C (p.T71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001621" "0" "30" "15" "69715565" "69715565" "subst" "4.09252E-6" "01804" "KIF23_000016" "g.69715565G>T" "" "" "" "KIF23(NM_138555.3):c.631G>T (p.(Asp211Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 KIF23 ## 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}}" "0000079505" "00010605" "00" "-2077722" "0" "2461507" "0" "c.-2077722_*2458936del" "r.?" "p.?" "" "0000244228" "00010605" "90" "755" "0" "755" "0" "c.755T>A" "r.(?)" "p.(Leu252His)" "" "0000324170" "00010605" "50" "143" "0" "143" "0" "c.143A>G" "r.(?)" "p.(Asn48Ser)" "" "0000555265" "00010605" "10" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Thr51Ile)" "" "0000555267" "00010605" "10" "564" "-10" "564" "-10" "c.564-10C>T" "r.(=)" "p.(=)" "" "0000555268" "00010605" "10" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Ile410=)" "" "0000555269" "00010605" "10" "1443" "0" "1443" "0" "c.1443A>G" "r.(?)" "p.(Pro481=)" "" "0000555270" "00010605" "10" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Phe515Leu)" "" "0000555271" "00010605" "10" "1977" "0" "1977" "0" "c.1977C>T" "r.(?)" "p.(Thr659=)" "" "0000615482" "00010605" "30" "1326" "0" "1326" "0" "c.1326A>C" "r.(?)" "p.(Val442=)" "" "0000657645" "00010605" "30" "2067" "285" "2067" "285" "c.2067+285C>T" "r.(=)" "p.(=)" "" "0000691842" "00010605" "30" "1543" "0" "1543" "0" "c.1543T>C" "r.(?)" "p.(Phe515Leu)" "" "0000926022" "00010605" "30" "1470" "0" "1470" "0" "c.1470T>C" "r.(?)" "p.(Asp490=)" "" "0000930421" "00010605" "50" "1887" "3" "1887" "6" "c.1887+3_1887+6del" "r.spl?" "p.?" "" "0001001619" "00010605" "50" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(Arg33Cys)" "" "0001001620" "00010605" "30" "213" "0" "213" "0" "c.213T>C" "r.(?)" "p.(=)" "" "0001001621" "00010605" "30" "631" "0" "631" "0" "c.631G>T" "r.(?)" "p.(Asp211Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000050525" "0000079505" "0000151062" "0000244228"