### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYOZ1) # 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}}" "MYOZ1" "myozenin 1" "10" "q22.1" "unknown" "NG_032583.1" "UD_136089452933" "" "https://www.LOVD.nl/MYOZ1" "" "1" "13752" "58529" "605603" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/MYOZ1_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-04-01 00:00:00" "00006" "2018-12-27 17:41:15" "00000" "2026-01-20 18:57:21" ## 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}}" "00014203" "MYOZ1" "myozenin 1" "001" "NM_021245.3" "" "NP_067068.1" "" "" "" "-365" "1218" "900" "75401515" "75391370" "" "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}}" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00210342" "" "" "" "2" "" "00006" "{PMID:Aurino 2008:19472918}" "" "" "" "Italy" "" "0" "" "" "" "" "00210343" "" "" "" "1" "" "00006" "{PMID:Aurino 2008:19472918}" "" "" "" "Italy" "" "0" "" "" "" "" "00210344" "" "" "" "1" "" "00006" "{PMID:Aurino 2008:19472918}" "" "" "" "Italy" "" "0" "" "" "" "" "00210345" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "" "" "0" "" "" "" "" "00210346" "" "" "" "1" "" "00006" "{PMID:Arola 2007:17254821}" "" "" "" "" "" "0" "" "" "" "" "00210347" "" "" "" "5" "" "00006" "{PMID:Posch 2007:17434779}" "" "" "" "Germany" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00210342" "05126" "00210343" "05126" "00210344" "05126" "00210345" "00351" "00210346" "00351" "00210347" "00352" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00351, 00352, 05126 ## Count = 6 "{{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}}" "0000158908" "05126" "00210342" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "0000158909" "05126" "00210343" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "0000158910" "05126" "00210344" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "0000158911" "00351" "00210345" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000158912" "00351" "00210346" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" "0000158913" "00352" "00210347" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000211418" "00210342" "1" "00006" "00006" "2012-04-20 11:55:06" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211419" "00210343" "1" "00006" "00006" "2012-04-20 11:55:06" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211420" "00210344" "1" "00006" "00006" "2012-04-20 11:55:06" "" "" "DHPLC;SEQ" "DNA" "" "" "0000211421" "00210345" "1" "00006" "00006" "2012-04-20 11:55:06" "" "" "DGGE;SEQ" "DNA" "" "" "0000211422" "00210346" "1" "00006" "00006" "2012-04-20 11:55:06" "" "" "DGGE;SEQ" "DNA" "" "" "0000211423" "00210347" "1" "00006" "00006" "2012-04-20 11:55:06" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000211418" "MYOZ1" "0000211419" "MYOZ1" "0000211420" "MYOZ1" "0000211421" "MYOZ1" "0000211422" "MYOZ1" "0000211423" "MYOZ1" ## 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 = 48 "{{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}}" "0000248279" "0" "30" "10" "75393674" "75393674" "subst" "0.000873058" "02325" "MYOZ1_000007" "g.75393674A>C" "" "" "" "MYOZ1(NM_021245.3):c.652T>G (p.Y218D), MYOZ1(NM_021245.4):c.652T>G (p.Y218D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73633916A>C" "" "likely benign" "" "0000249551" "0" "30" "10" "75394511" "75394511" "subst" "0.000405791" "02325" "MYOZ1_000008" "g.75394511A>G" "" "" "" "MYOZ1(NM_021245.4):c.253-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73634753A>G" "" "likely benign" "" "0000249783" "0" "50" "10" "75397503" "75397503" "subst" "2.45523E-5" "02325" "MYOZ1_000009" "g.75397503A>G" "" "" "" "MYOZ1(NM_021245.3):c.251T>C (p.M84T), MYOZ1(NM_021245.4):c.251T>C (p.M84T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73637745A>G" "" "VUS" "" "0000249837" "0" "50" "10" "75397540" "75397540" "subst" "8.93895E-5" "02325" "MYOZ1_000010" "g.75397540A>G" "" "" "" "MYOZ1(NM_021245.4):c.214T>C (p.Y72H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73637782A>G" "" "VUS" "" "0000251725" "0" "30" "10" "75393674" "75393674" "subst" "0.000873058" "02326" "MYOZ1_000007" "g.75393674A>C" "" "" "" "MYOZ1(NM_021245.3):c.652T>G (p.Y218D), MYOZ1(NM_021245.4):c.652T>G (p.Y218D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73633916A>C" "" "likely benign" "" "0000296248" "0" "50" "10" "75399794" "75399794" "subst" "8.94113E-5" "02325" "MYOZ1_000015" "g.75399794C>T" "" "" "" "MYOZ1(NM_021245.4):c.-18-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73640036C>T" "" "VUS" "" "0000296249" "0" "30" "10" "75397607" "75397607" "subst" "0.000747275" "02325" "MYOZ1_000001" "g.75397607C>T" "" "" "" "MYOZ1(NM_021245.3):c.147G>A (p.L49=), MYOZ1(NM_021245.4):c.147G>A (p.L49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73637849C>T" "" "likely benign" "" "0000296250" "0" "50" "10" "75397605" "75397605" "subst" "1.21838E-5" "02325" "MYOZ1_000013" "g.75397605G>A" "" "" "" "MYOZ1(NM_021245.4):c.149C>T (p.S50L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73637847G>A" "" "VUS" "" "0000296251" "0" "50" "10" "75397587" "75397587" "subst" "0.000174639" "02325" "MYOZ1_000011" "g.75397587C>G" "" "" "" "MYOZ1(NM_021245.3):c.167G>C (p.G56A), MYOZ1(NM_021245.4):c.167G>C (p.G56A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73637829C>G" "" "VUS" "" "0000296252" "0" "30" "10" "75394462" "75394462" "subst" "0.0012328" "02325" "MYOZ1_000002" "g.75394462C>A" "" "" "" "MYOZ1(NM_021245.4):c.282G>T (p.V94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73634704C>A" "" "likely benign" "" "0000296253" "0" "30" "10" "75394301" "75394301" "subst" "0.00057679" "02325" "MYOZ1_000017" "g.75394301G>A" "" "" "" "MYOZ1(NM_021245.4):c.443C>T (p.A148V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73634543G>A" "" "likely benign" "" "0000296254" "0" "30" "10" "75391847" "75391847" "subst" "4.06134E-6" "02325" "MYOZ1_000016" "g.75391847C>G" "" "" "" "MYOZ1(NM_021245.4):c.741G>C (p.L247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73632089C>G" "" "likely benign" "" "0000299876" "0" "30" "10" "75397607" "75397607" "subst" "0.000747275" "02326" "MYOZ1_000001" "g.75397607C>T" "" "" "" "MYOZ1(NM_021245.3):c.147G>A (p.L49=), MYOZ1(NM_021245.4):c.147G>A (p.L49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73637849C>T" "" "likely benign" "" "0000299877" "0" "50" "10" "75397596" "75397596" "subst" "4.06154E-6" "02326" "MYOZ1_000012" "g.75397596G>C" "" "" "" "MYOZ1(NM_021245.4):c.158C>G (p.T53S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73637838G>C" "" "VUS" "" "0000299878" "0" "30" "10" "75394401" "75394401" "subst" "0.000495693" "02326" "MYOZ1_000006" "g.75394401C>T" "" "" "" "MYOZ1(NM_021245.3):c.343G>A (p.G115S), MYOZ1(NM_021245.4):c.343G>A (p.G115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73634643C>T" "" "likely benign" "" "0000299879" "0" "50" "10" "75391898" "75391898" "subst" "0" "02326" "MYOZ1_000014" "g.75391898T>C" "" "" "" "MYOZ1(NM_021245.4):c.690A>G (p.G230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73632140T>C" "" "VUS" "" "0000321610" "0" "50" "10" "75394322" "75394322" "subst" "4.06118E-6" "01804" "MYOZ1_000018" "g.75394322G>T" "" "" "" "MYOZ1(NM_021245.3):c.422C>A (p.(Ala141Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.73634564G>T" "" "VUS" "" "0000442907" "0" "30" "10" "75397607" "75397607" "subst" "0.000747275" "00006" "MYOZ1_000001" "g.75397607C>T" "2/180" "{PMID:Aurino 2008:19472918}" "" "L48L" "" "Germline" "" "" "0" "" "" "g.73637849C>T" "" "likely benign" "" "0000442908" "0" "30" "10" "75394462" "75394462" "subst" "0.0012328" "00006" "MYOZ1_000002" "g.75394462C>A" "1/180" "{PMID:Aurino 2008:19472918}" "" "V93V" "" "Germline" "" "" "0" "" "" "g.73634704C>A" "" "likely benign" "" "0000442909" "0" "30" "10" "75393810" "75393810" "subst" "8.55195E-5" "00006" "MYOZ1_000003" "g.75393810G>A" "1/180" "{PMID:Aurino 2008:19472918}" "" "G171G" "" "Germline" "" "" "0" "" "" "g.73634052G>A" "" "likely benign" "" "0000442910" "0" "30" "10" "75397601" "75397601" "subst" "0" "00006" "MYOZ1_000004" "g.75397601A>G" "" "{PMID:Arola 2007:17254821}" "" "S50S" "Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000442911" "0" "30" "10" "75391823" "75391823" "subst" "0.0499972" "00006" "MYOZ1_000005" "g.75391823C>A" "" "{PMID:Arola 2007:17254821}" "" "L255L" "" "Germline" "" "" "0" "" "" "g.73632065C>A" "" "likely benign" "" "0000442912" "0" "30" "10" "75391823" "75391823" "subst" "0.0499972" "00006" "MYOZ1_000005" "g.75391823C>A" "5/61 patients" "{PMID:Posch 2007:17434779}" "" "G>T (L255L)" "" "Germline" "" "" "0" "" "" "g.73632065C>A" "" "likely benign" "" "0000540822" "0" "30" "10" "75393649" "75393649" "subst" "2.54102E-5" "02325" "MYOZ1_000019" "g.75393649C>T" "" "" "" "MYOZ1(NM_021245.4):c.668+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73633891C>T" "" "likely benign" "" "0000540823" "0" "50" "10" "75393686" "75393686" "subst" "4.08403E-5" "01943" "MYOZ1_000020" "g.75393686C>T" "" "" "" "MYOZ1(NM_021245.3):c.640G>A (p.E214K), MYOZ1(NM_021245.4):c.640G>A (p.E214K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73633928C>T" "" "VUS" "" "0000540824" "0" "30" "10" "75393686" "75393686" "subst" "4.08403E-5" "02326" "MYOZ1_000020" "g.75393686C>T" "" "" "" "MYOZ1(NM_021245.3):c.640G>A (p.E214K), MYOZ1(NM_021245.4):c.640G>A (p.E214K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73633928C>T" "" "likely benign" "" "0000540825" "0" "50" "10" "75393775" "75393775" "subst" "4.06398E-5" "02326" "MYOZ1_000021" "g.75393775T>C" "" "" "" "MYOZ1(NM_021245.3):c.551A>G (p.Y184C), MYOZ1(NM_021245.4):c.551A>G (p.Y184C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73634017T>C" "" "VUS" "" "0000540826" "0" "50" "10" "75394283" "75394283" "subst" "0" "02325" "MYOZ1_000022" "g.75394283C>T" "" "" "" "MYOZ1(NM_021245.4):c.461G>A (p.G154E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73634525C>T" "" "VUS" "" "0000540827" "0" "50" "10" "75394401" "75394401" "subst" "0" "02326" "MYOZ1_000023" "g.75394401C>G" "" "" "" "MYOZ1(NM_021245.4):c.343G>C (p.G115R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73634643C>G" "" "VUS" "" "0000540828" "0" "30" "10" "75394430" "75394430" "subst" "0" "01943" "MYOZ1_000024" "g.75394430A>G" "" "" "" "MYOZ1(NM_021245.3):c.314T>C (p.F105S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73634672A>G" "" "likely benign" "" "0000540829" "0" "30" "10" "75394511" "75394511" "subst" "0.000405791" "02326" "MYOZ1_000008" "g.75394511A>G" "" "" "" "MYOZ1(NM_021245.4):c.253-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73634753A>G" "" "likely benign" "" "0000540830" "0" "50" "10" "75397503" "75397503" "subst" "2.45523E-5" "01943" "MYOZ1_000009" "g.75397503A>G" "" "" "" "MYOZ1(NM_021245.3):c.251T>C (p.M84T), MYOZ1(NM_021245.4):c.251T>C (p.M84T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73637745A>G" "" "VUS" "" "0000540831" "0" "30" "10" "75397607" "75397607" "subst" "0.000747275" "01943" "MYOZ1_000001" "g.75397607C>T" "" "" "" "MYOZ1(NM_021245.3):c.147G>A (p.L49=), MYOZ1(NM_021245.4):c.147G>A (p.L49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73637849C>T" "" "likely benign" "" "0000612633" "0" "30" "10" "75393732" "75393732" "subst" "1.21904E-5" "01943" "MYOZ1_000025" "g.75393732T>C" "" "" "" "MYOZ1(NM_021245.3):c.594A>G (p.Q198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73633974T>C" "" "likely benign" "" "0000612634" "0" "50" "10" "75394307" "75394307" "subst" "4.06134E-6" "02325" "MYOZ1_000026" "g.75394307C>T" "" "" "" "MYOZ1(NM_021245.4):c.437G>A (p.G146D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73634549C>T" "" "VUS" "" "0000612635" "0" "30" "10" "75394401" "75394401" "subst" "0.000495693" "01943" "MYOZ1_000006" "g.75394401C>T" "" "" "" "MYOZ1(NM_021245.3):c.343G>A (p.G115S), MYOZ1(NM_021245.4):c.343G>A (p.G115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73634643C>T" "" "likely benign" "" "0000612636" "0" "50" "10" "75397662" "75397662" "subst" "4.09732E-6" "02325" "MYOZ1_000027" "g.75397662C>A" "" "" "" "MYOZ1(NM_021245.4):c.92G>T (p.G31V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73637904C>A" "" "VUS" "" "0000612637" "0" "50" "10" "75399756" "75399756" "subst" "1.62435E-5" "02326" "MYOZ1_000028" "g.75399756G>A" "" "" "" "MYOZ1(NM_021245.4):c.20C>T (p.P7L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73639998G>A" "" "VUS" "" "0000656547" "0" "50" "10" "75397555" "75397555" "subst" "0" "02326" "MYOZ1_000029" "g.75397555C>G" "" "" "" "MYOZ1(NM_021245.4):c.199G>C (p.V67L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73637797C>G" "" "VUS" "" "0000656548" "0" "50" "10" "75397587" "75397587" "subst" "0.000174639" "01943" "MYOZ1_000011" "g.75397587C>G" "" "" "" "MYOZ1(NM_021245.3):c.167G>C (p.G56A), MYOZ1(NM_021245.4):c.167G>C (p.G56A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.73637829C>G" "" "VUS" "" "0000678905" "0" "30" "10" "75394303" "75394303" "subst" "0.000723013" "01943" "MYOZ1_000030" "g.75394303G>A" "" "" "" "MYOZ1(NM_021245.3):c.441C>T (p.P147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690772" "0" "30" "10" "75391745" "75391745" "subst" "0" "02326" "MYOZ1_000031" "g.75391745A>G" "" "" "" "MYOZ1(NM_021245.4):c.843T>C (p.P281=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690773" "0" "30" "10" "75391871" "75391871" "subst" "0" "02326" "MYOZ1_000032" "g.75391871G>C" "" "" "" "MYOZ1(NM_021245.4):c.717C>G (p.T239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690774" "0" "30" "10" "75393674" "75393674" "subst" "0.000873058" "01943" "MYOZ1_000007" "g.75393674A>C" "" "" "" "MYOZ1(NM_021245.3):c.652T>G (p.Y218D), MYOZ1(NM_021245.4):c.652T>G (p.Y218D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722922" "0" "50" "10" "75393775" "75393775" "subst" "4.06398E-5" "01943" "MYOZ1_000021" "g.75393775T>C" "" "" "" "MYOZ1(NM_021245.3):c.551A>G (p.Y184C), MYOZ1(NM_021245.4):c.551A>G (p.Y184C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000804551" "0" "30" "10" "75397583" "75397583" "subst" "1.62451E-5" "01943" "MYOZ1_000033" "g.75397583G>A" "" "" "" "MYOZ1(NM_021245.3):c.171C>T (p.S57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913324" "0" "10" "10" "75391823" "75391823" "subst" "0.0499972" "02325" "MYOZ1_000005" "g.75391823C>A" "" "" "" "MYOZ1(NM_021245.4):c.765G>T (p.L255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001065257" "0" "50" "10" "75393821" "75393821" "subst" "0" "02325" "MYOZ1_000034" "g.75393821C>G" "" "" "" "" "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 MYOZ1 ## Count = 48 "{{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}}" "0000248279" "00014203" "30" "652" "0" "652" "0" "c.652T>G" "r.(?)" "p.(Tyr218Asp)" "" "0000249551" "00014203" "30" "253" "-20" "253" "-20" "c.253-20T>C" "r.(=)" "p.(=)" "" "0000249783" "00014203" "50" "251" "0" "251" "0" "c.251T>C" "r.(?)" "p.(Met84Thr)" "" "0000249837" "00014203" "50" "214" "0" "214" "0" "c.214T>C" "r.(?)" "p.(Tyr72His)" "" "0000251725" "00014203" "30" "652" "0" "652" "0" "c.652T>G" "r.(?)" "p.(Tyr218Asp)" "" "0000296248" "00014203" "50" "-18" "-1" "-18" "-1" "c.-18-1G>A" "r.spl?" "p.?" "" "0000296249" "00014203" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Leu49=)" "" "0000296250" "00014203" "50" "149" "0" "149" "0" "c.149C>T" "r.(?)" "p.(Ser50Leu)" "" "0000296251" "00014203" "50" "167" "0" "167" "0" "c.167G>C" "r.(?)" "p.(Gly56Ala)" "" "0000296252" "00014203" "30" "282" "0" "282" "0" "c.282G>T" "r.(?)" "p.(Val94=)" "" "0000296253" "00014203" "30" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Ala148Val)" "" "0000296254" "00014203" "30" "741" "0" "741" "0" "c.741G>C" "r.(?)" "p.(Leu247=)" "" "0000299876" "00014203" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Leu49=)" "" "0000299877" "00014203" "50" "158" "0" "158" "0" "c.158C>G" "r.(?)" "p.(Thr53Ser)" "" "0000299878" "00014203" "30" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Gly115Ser)" "" "0000299879" "00014203" "50" "690" "0" "690" "0" "c.690A>G" "r.(?)" "p.(Gly230=)" "" "0000321610" "00014203" "50" "422" "0" "422" "0" "c.422C>A" "r.(?)" "p.(Ala141Asp)" "" "0000442907" "00014203" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(=)" "3" "0000442908" "00014203" "30" "282" "0" "282" "0" "c.282G>T" "r.(?)" "p.(=)" "4" "0000442909" "00014203" "30" "516" "0" "516" "0" "c.516C>T" "r.(?)" "p.(=)" "5" "0000442910" "00014203" "30" "153" "0" "153" "0" "c.153T>C" "r.(?)" "p.(=)" "3" "0000442911" "00014203" "30" "765" "0" "765" "0" "c.(765G>T)" "r.(?)" "p.(=)" "6" "0000442912" "00014203" "30" "765" "0" "765" "0" "c.765G>T" "r.(?)" "p.(=)" "6" "0000540822" "00014203" "30" "668" "9" "668" "9" "c.668+9G>A" "r.(=)" "p.(=)" "" "0000540823" "00014203" "50" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Glu214Lys)" "" "0000540824" "00014203" "30" "640" "0" "640" "0" "c.640G>A" "r.(?)" "p.(Glu214Lys)" "" "0000540825" "00014203" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Tyr184Cys)" "" "0000540826" "00014203" "50" "461" "0" "461" "0" "c.461G>A" "r.(?)" "p.(Gly154Glu)" "" "0000540827" "00014203" "50" "343" "0" "343" "0" "c.343G>C" "r.(?)" "p.(Gly115Arg)" "" "0000540828" "00014203" "30" "314" "0" "314" "0" "c.314T>C" "r.(?)" "p.(Phe105Ser)" "" "0000540829" "00014203" "30" "253" "-20" "253" "-20" "c.253-20T>C" "r.(=)" "p.(=)" "" "0000540830" "00014203" "50" "251" "0" "251" "0" "c.251T>C" "r.(?)" "p.(Met84Thr)" "" "0000540831" "00014203" "30" "147" "0" "147" "0" "c.147G>A" "r.(?)" "p.(Leu49=)" "" "0000612633" "00014203" "30" "594" "0" "594" "0" "c.594A>G" "r.(?)" "p.(Gln198=)" "" "0000612634" "00014203" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Gly146Asp)" "" "0000612635" "00014203" "30" "343" "0" "343" "0" "c.343G>A" "r.(?)" "p.(Gly115Ser)" "" "0000612636" "00014203" "50" "92" "0" "92" "0" "c.92G>T" "r.(?)" "p.(Gly31Val)" "" "0000612637" "00014203" "50" "20" "0" "20" "0" "c.20C>T" "r.(?)" "p.(Pro7Leu)" "" "0000656547" "00014203" "50" "199" "0" "199" "0" "c.199G>C" "r.(?)" "p.(Val67Leu)" "" "0000656548" "00014203" "50" "167" "0" "167" "0" "c.167G>C" "r.(?)" "p.(Gly56Ala)" "" "0000678905" "00014203" "30" "441" "0" "441" "0" "c.441C>T" "r.(?)" "p.(Pro147=)" "" "0000690772" "00014203" "30" "843" "0" "843" "0" "c.843T>C" "r.(?)" "p.(Pro281=)" "" "0000690773" "00014203" "30" "717" "0" "717" "0" "c.717C>G" "r.(?)" "p.(Thr239=)" "" "0000690774" "00014203" "30" "652" "0" "652" "0" "c.652T>G" "r.(?)" "p.(Tyr218Asp)" "" "0000722922" "00014203" "50" "551" "0" "551" "0" "c.551A>G" "r.(?)" "p.(Tyr184Cys)" "" "0000804551" "00014203" "30" "171" "0" "171" "0" "c.171C>T" "r.(?)" "p.(Ser57=)" "" "0000913324" "00014203" "10" "765" "0" "765" "0" "c.765G>T" "r.(?)" "p.(Leu255=)" "" "0001065257" "00014203" "50" "505" "0" "505" "0" "c.505G>C" "r.(?)" "p.(Asp169His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{variantid}}" "0000211418" "0000442907" "0000211419" "0000442908" "0000211420" "0000442909" "0000211421" "0000442910" "0000211422" "0000442911" "0000211423" "0000442912"