### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KY) # 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}}" "KY" "kyphoscoliosis peptidase" "3" "q22.1" "unknown" "NG_054713.1" "UD_136020483997" "" "https://www.LOVD.nl/KY" "" "1" "26576" "339855" "605739" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/KY_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-07-14 18:35:52" "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}}" "00010918" "KY" "kyphoscoliosis peptidase" "001" "NM_178554.4" "" "NP_848649.3" "" "" "" "-62" "5642" "1986" "134369864" "134318765" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "05104" "-" "neuropathy, peripheral" "" "" "" "" "" "00006" "2015-12-05 03:05:09" "" "" "05299" "MFM" "myopathy, myofibrillar (MFM)" "" "" "" "" "" "00006" "2017-06-30 15:34:57" "" "" "05787" "MFM7" "myopathy, myofibrillar, type 7 (MFM7)" "AR" "617114" "" "" "" "00006" "2020-07-14 18:35:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KY" "05299" "KY" "05787" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00063263" "" "" "" "1" "" "01579" "" "" "F" "yes" "" "" "0" "" "" "" "" "00265880" "" "" "" "1" "" "03443" "" "" "F" "yes" "Pakistan" "" "0" "" "" "" "03443" "00295568" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00063263" "00244" "00265880" "05104" "00295568" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 05104, 05299, 05787 ## 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}}" "0000050846" "00244" "00063263" "01579" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223133" "00198" "00295568" "01164" "Unknown" "" "Weakness due to upper motor neuron dysfunction (HP:0010549); Abnormality of muscle morphology (HP:0011805); Tetraparesis (HP:0002273); Myopathy (HP:0003198)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000063394" "00063263" "1" "01579" "01579" "2016-04-12 22:54:01" "" "" "SEQ-NG" "DNA" "" "" "0000267000" "00265880" "1" "03443" "03443" "2019-10-09 17:25:41" "03443" "2020-07-14 17:59:37" "SEQ" "DNA" "" "" "0000296738" "00295568" "1" "01164" "01164" "2020-03-18 10:48:28" "" "" "SEQ-NG-S" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000267000" "KY" ## 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 = 8 "{{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}}" "0000094346" "3" "70" "3" "134327510" "134327510" "del" "0" "01579" "KY_000001" "g.134327510del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.134608668del" "" "likely pathogenic" "" "0000653438" "0" "70" "3" "134346661" "134346661" "subst" "4.06375E-6" "01164" "KY_000003" "g.134346661C>G" "" "" "" "" "no second variant detected in KY" "Germline" "" "rs377393636" "0" "" "" "g.134627819C>G" "" "likely pathogenic" "ACMG" "0000674422" "3" "90" "3" "134329081" "134329094" "del" "0" "03443" "KY_000004" "g.134329081_134329094del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.134610239_134610252del" "" "pathogenic (recessive)" "" "0000719209" "0" "30" "3" "134327503" "134327503" "subst" "0.00329394" "01804" "KY_000005" "g.134327503T>A" "" "" "" "KY(NM_178554.4):c.1078A>T (p.(Met360Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858810" "0" "30" "3" "134323012" "134323012" "subst" "0.00145243" "02326" "KY_000006" "g.134323012C>T" "" "" "" "KY(NM_178554.6):c.1395G>A (p.K465=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993306" "0" "50" "3" "134323103" "134323103" "subst" "0" "01804" "KY_000007" "g.134323103C>A" "" "" "" "KY(NM_178554.4):c.1304G>T (p.(Cys435Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993307" "0" "50" "3" "134338098" "134338098" "subst" "0.000276187" "01804" "KY_000008" "g.134338098A>G" "" "" "" "KY(NM_178554.4):c.602T>C (p.(Ile201Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033704" "0" "50" "3" "134329176" "134329176" "subst" "1.22044E-5" "01804" "KY_000009" "g.134329176C>T" "" "" "" "KY(NM_178554.6):c.760G>A (p.(Gly254Ser))" "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 KY ## Count = 8 "{{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}}" "0000094346" "00010918" "70" "1071" "0" "1071" "0" "c.1071del" "r.(?)" "p.(Thr358Leufs*3)" "10" "0000653438" "00010918" "70" "338" "-1" "338" "-1" "c.338-1G>C" "r.(?)" "p.(?)" "" "0000674422" "00010918" "90" "842" "0" "855" "0" "c.842_855del" "r.(?)" "p.(Val281Glyfs*18)" "" "0000719209" "00010918" "30" "1078" "0" "1078" "0" "c.1078A>T" "r.(?)" "p.(Met360Leu)" "" "0000858810" "00010918" "30" "1395" "0" "1395" "0" "c.1395G>A" "r.(?)" "p.(Lys465=)" "" "0000993306" "00010918" "50" "1304" "0" "1304" "0" "c.1304G>T" "r.(?)" "p.(Cys435Phe)" "" "0000993307" "00010918" "50" "602" "0" "602" "0" "c.602T>C" "r.(?)" "p.(Ile201Thr)" "" "0001033704" "00010918" "50" "760" "0" "760" "0" "c.760G>A" "r.(?)" "p.(Gly254Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000063394" "0000094346" "0000267000" "0000674422" "0000296738" "0000653438"