### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYL1) # 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}}" "MYL1" "myosin, light chain 1, alkali; skeletal, fast" "2" "q33-q34" "unknown" "NC_000002.11" "UD_134711410632" "" "https://www.LOVD.nl/MYL1" "" "1" "7582" "4632" "160780" "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/MYL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-10-27 09:59:50" "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}}" "00014148" "MYL1" "transcript variant 1f" "001" "NM_079420.2" "" "NP_524144.1" "" "" "" "-129" "923" "585" "211179895" "211154868" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "05864" "MYOFTA" "myopathy, congenital, with fast-twitch (type II) fiber atrophy (MYOFTA)" "AR" "618414" "" "" "" "00006" "2020-10-27 09:59:32" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MYL1" "00244" "MYL1" "05864" ## 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}}" "00315493" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:30215711}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "2-generation family, 1 affected, unaffected heterozygous carrier second-degree consanguineous parents" "F" "yes" "Turkey" "" "0" "" "" "" "Fam2" "00315494" "" "" "" "1" "" "00006" "{PMID:Ravenscroft 2018:30215711}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "2-generation family, 1 affected, unaffected heterozygous carrier second-degree consanguineous parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00315493" "00244" "00315494" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00244, 05864 ## Count = 2 "{{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}}" "0000239244" "00244" "00315493" "00006" "Familial, autosomal recessive" "" "see paper; decreased fetal movement; apnea; respiratory insufficiency due to muscle weakness; generalized hypotonia; myopathic facies; axial muscle weakness; high palate, ..." "" "" "" "" "" "" "" "" "distal arthrogryposis, myopathy" "0000239245" "00244" "00315494" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "myopathy" ## 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}}" "0000316670" "00315493" "1" "00006" "00006" "2020-10-27 10:08:25" "" "" "SEQ;SEQ-NG" "DNA" "" "neurogenic disease panel" "0000316671" "00315494" "1" "00006" "00006" "2020-10-27 10:13:09" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000316670" "MYL1" "0000316671" "MYL1" ## 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}}" "0000698831" "3" "90" "2" "211158515" "211158515" "subst" "0" "00006" "MYL1_000001" "g.211158515A>C" "" "{PMID:Ravenscroft 2018:30215711}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.210293791A>C" "" "pathogenic (recessive)" "" "0000698832" "3" "90" "2" "211158526" "211158526" "subst" "0" "00006" "MYL1_000002" "g.211158526T>C" "" "{PMID:Ravenscroft 2018:30215711}, {PMID:Ravenscroft 2020:33060286}, {DOI:Ravenscroft 2020:10.1136/jmedgenet-2020-106901}" "" "" "" "Germline" "" "" "0" "" "" "g.210293802T>C" "" "pathogenic (recessive)" "" "0000800293" "0" "50" "2" "211179681" "211179681" "subst" "1.21956E-5" "01943" "MYL1_000003" "g.211179681G>A" "" "" "" "MYL1(NM_079420.3):c.86C>T (p.A29V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000961817" "0" "30" "2" "211179776" "211179776" "del" "0" "02329" "MYL1_000004" "g.211179776del" "" "" "" "MYL1(NM_079420.3):c.1delA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974889" "0" "50" "2" "211159118" "211159118" "subst" "1.62738E-5" "01804" "MYL1_000005" "g.211159118A>G" "" "" "" "MYL1(NM_079420.3):c.329T>C (p.(Phe110Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974890" "0" "50" "2" "211167237" "211167237" "subst" "0" "01804" "MYL1_000006" "g.211167237G>C" "" "" "" "MYL1(NM_079420.3):c.135C>G (p.(Ile45Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032924" "0" "50" "2" "211158990" "211158990" "subst" "4.50307E-5" "01804" "MYL1_000007" "g.211158990G>A" "" "" "" "MYL1(NM_079420.3):c.457C>T (p.(Arg153Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032925" "0" "50" "2" "211159044" "211159044" "subst" "0" "01804" "MYL1_000008" "g.211159044C>A" "" "" "" "MYL1(NM_079420.3):c.403G>T (p.(Gly135Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032926" "0" "30" "2" "211168267" "211168267" "subst" "0.000534271" "01804" "MYL1_000009" "g.211168267A>G" "" "" "" "MYL1(NM_079422.3):c.2T>C (p.(Met1?))" "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 MYL1 ## 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}}" "0000698831" "00014148" "90" "488" "0" "488" "0" "c.488T>G" "r.(?)" "p.(Met163Arg)" "5" "0000698832" "00014148" "90" "479" "-2" "479" "-2" "c.479-2A>G" "r.spl" "p.?" "4i" "0000800293" "00014148" "50" "86" "0" "86" "0" "c.86C>T" "r.(?)" "p.(Ala29Val)" "" "0000961817" "00014148" "30" "1" "0" "1" "0" "c.1del" "r.(?)" "p.(=)" "" "0000974889" "00014148" "50" "329" "0" "329" "0" "c.329T>C" "r.(?)" "p.(Phe110Ser)" "" "0000974890" "00014148" "50" "135" "0" "135" "0" "c.135C>G" "r.(?)" "p.(Ile45Met)" "" "0001032924" "00014148" "50" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Arg153Cys)" "" "0001032925" "00014148" "50" "403" "0" "403" "0" "c.403G>T" "r.(?)" "p.(Gly135Cys)" "" "0001032926" "00014148" "30" "133" "-1028" "133" "-1028" "c.133-1028T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000316670" "0000698831" "0000316671" "0000698832"