### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PAX7) # 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}}" "PAX7" "paired box 7" "1" "p36.13" "unknown" "NG_023262.1" "UD_132118470968" "" "https://www.LOVD.nl/PAX7" "" "1" "8621" "5081" "167410" "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/PAX7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-05 13:58:41" "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}}" "00015709" "PAX7" "transcript variant 1" "002" "NM_002584.2" "" "NP_002575.1" "" "" "" "-598" "1662" "1563" "18957500" "19062632" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "02059" "RMS2" "rhabdomyosarcoma, type 2 (RMS2)" "SMo" "268220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-26 16:33:34" "05658" "MYOSCO" "myopathy, congenital, progressive, with scoliosis (MYOSCO)" "AR" "618578" "" "" "" "00006" "2019-10-05 13:28:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PAX7" "02059" "PAX7" "05658" ## 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}}" "00265770" "" "" "" "1" "" "00006" "{PMID:Feichtinger 2019:31092906}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Canada" "" "0" "" "" "" "Pat1" "00265771" "" "" "" "1" "" "00006" "{PMID:Feichtinger 2019:31092906}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Germany" "" "0" "" "" "" "Pat2" "00265772" "" "" "" "1" "" "00006" "{PMID:Feichtinger 2019:31092906}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Palestine" "" "0" "" "" "" "Pat3" "00265773" "" "" "" "2" "" "00006" "{PMID:Feichtinger 2019:31092906}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Pat4/5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00265770" "00244" "00265771" "00244" "00265772" "00244" "00265773" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244, 02059, 05658 ## Count = 4 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000203556" "00244" "00265770" "00006" "Familial, autosomal recessive" "14y" "see paper; …, progressive congenital myopathy, scoliosis" "" "" "" "" "" "" "" "MYOSCO" "myopathy" "0000203557" "00244" "00265771" "00006" "Familial, autosomal recessive" "5y" "see paper; …, progressive congenital myopathy, scoliosis, respiratory insufficiency, bilateral ptosis" "" "" "" "" "" "" "" "MYOSCO" "myopathy" "0000203558" "00244" "00265772" "00006" "Familial, autosomal recessive" "7y" "see paper; …, progressive congenital myopathy, scoliosis, diead at 7y" "" "" "" "" "" "" "" "MYOSCO" "myopathy" "0000203559" "00244" "00265773" "00006" "Familial, autosomal recessive" "" "see paper; …, progressive congenital myopathy, scoliosis" "" "" "" "" "" "" "" "MYOSCO" "myopathy" ## 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}}" "0000266893" "00265770" "1" "00006" "00006" "2019-10-05 13:55:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266894" "00265771" "1" "00006" "00006" "2019-10-05 13:55:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266895" "00265772" "1" "00006" "00006" "2019-10-05 13:55:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000266896" "00265773" "1" "00006" "00006" "2019-10-05 13:55:51" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000266893" "PAX7" "0000266894" "PAX7" "0000266895" "PAX7" "0000266896" "PAX7" ## 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 = 9 "{{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}}" "0000339015" "0" "50" "1" "19018305" "19018305" "subst" "0" "02327" "PAX7_000001" "g.19018305G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18691811G>T" "" "VUS" "" "0000342980" "0" "10" "1" "19071356" "19071356" "subst" "0.00128067" "02327" "PAX7_000002" "g.19071356G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.18744862G>A" "" "benign" "" "0000597732" "3" "90" "1" "18961716" "18961716" "subst" "0" "00006" "PAX7_000006" "g.18961716C>T" "" "{PMID:Feichtinger 2019:31092906}" "" "" "" "Germline" "" "" "0" "" "" "g.18635222C>T" "" "pathogenic (recessive)" "" "0000597733" "3" "90" "1" "18958177" "18958177" "subst" "0" "00006" "PAX7_000003" "g.18958177G>A" "" "{PMID:Feichtinger 2019:31092906}" "" "" "Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.18631683G>A" "" "pathogenic (recessive)" "" "0000597734" "3" "90" "1" "18960931" "18960931" "subst" "4.06246E-6" "00006" "PAX7_000005" "g.18960931C>T" "" "{PMID:Feichtinger 2019:31092906}" "" "" "" "Germline" "" "" "0" "" "" "g.18634437C>T" "" "pathogenic (recessive)" "" "0000597735" "3" "90" "1" "18960877" "18960877" "subst" "0" "00006" "PAX7_000004" "g.18960877C>T" "" "{PMID:Feichtinger 2019:31092906}" "" "" "" "Germline" "yes" "" "0" "" "" "g.18634383C>T" "" "pathogenic (recessive)" "" "0000717033" "0" "50" "1" "19062163" "19062163" "subst" "0.000561337" "02325" "PAX7_000007" "g.19062163C>T" "" "" "" "PAX7(NM_002584.3):c.1193C>T (p.P398L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882978" "0" "50" "1" "18961618" "18961618" "subst" "0.00119464" "01804" "PAX7_000008" "g.18961618C>T" "" "" "" "PAX7(NM_001135254.1):c.335C>T (p.(Pro112Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049964" "0" "50" "1" "19018305" "19018305" "subst" "0.000430416" "01804" "PAX7_000009" "g.19018305G>A" "" "" "" "PAX7(NM_001135254.2):c.644G>A (p.(Arg215His))" "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 PAX7 ## Count = 9 "{{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}}" "0000339015" "00015709" "50" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Arg215Leu)" "" "0000342980" "00015709" "10" "10386" "0" "10386" "0" "c.*8823G>A" "r.(=)" "p.(=)" "" "0000597732" "00015709" "90" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Arg145*)" "" "0000597733" "00015709" "90" "81" "-1" "81" "-1" "c.81-1G>A" "r.spl" "p.?" "" "0000597734" "00015709" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74*)" "" "0000597735" "00015709" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Arg56Cys)" "" "0000717033" "00015709" "50" "1193" "0" "1193" "0" "c.1193C>T" "r.(?)" "p.(Pro398Leu)" "" "0000882978" "00015709" "50" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Pro112Leu)" "" "0001049964" "00015709" "50" "644" "0" "644" "0" "c.644G>A" "r.(?)" "p.(Arg215His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000266893" "0000597732" "0000266894" "0000597733" "0000266895" "0000597734" "0000266896" "0000597735"