### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MYOD1)
# 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}}"
"MYOD1"	"myogenic differentiation 1"	"11"	"p15"	"unknown"	"NC_000011.9"	"UD_136089452019"	""	"http://www.LOVD.nl/MYOD1"	""	"1"	"7611"	"4654"	"159970"	"1"	"1"	"1"	"1"	"This database is one of the gene variant databases from the:<a href=\"http://www.DMD.nl\" target=\"_blank\"><img src=\"docs/LOVD_LMDp-logo.png\"></a>\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/MYOD1_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <b><a href=\"http://www.DMD.nl\" target=\"_blank\">\"Leiden Muscular Dystrophy pages\" (LMDp)</a></b></font>"	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-01-09 02:33:12"	"00006"	"2022-09-27 09:26:32"


## 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}}"
"00014196"	"MYOD1"	"myogenic differentiation 1"	"001"	"NM_002478.4"	""	"NP_002469.2"	""	""	""	"-220"	"1586"	"963"	"17741110"	"17743678"	""	"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"
"01666"	"FADS"	"akinesia, fetal, deformation sequence (FADS)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-10-27 12:54:08"
"06967"	"MYODRIF"	"myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facie"	"AR"	"618975"	""	""	""	"00006"	"2022-09-27 08:09:41"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"MYOD1"	"06967"


## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00056440"	""	""	""	"3"	""	"00552"	"{PMID:Watson 2016:26733463}, {DOI:Watson 2016:10.1136/jmedgenet-2015-103620}"	"3-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents"	""	"yes"	"(United Kingdom (Great Britain))"	""	"0"	""	""	"white"	""
"00417857"	""	""	""	"1"	""	"00006"	"{PMID:Ashton 2022:35754284}"	"2 generation family, 1 affected, unaffected parents"	"F"	"yes"	"Australia"	""	"0"	""	""	""	"patient"
"00417858"	""	""	""	"3"	""	"00006"	"{PMID:Watson 2016:26733463}"	"3 generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"United Kingdom (Great Britain)"	"00y00m02d"	"0"	""	""	"white"	"FamPatIII1"
"00417859"	""	""	""	"1"	""	"00006"	"{PMID:Lopez 2018:30403323}"	"2 generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	""	"Portugal"	""	"0"	""	""	""	"patient"
"00417860"	""	""	"00417858"	"1"	""	"00006"	"{PMID:Watson 2016:26733463}"	"brother"	"M"	""	"United Kingdom (Great Britain)"	"00y00m01d"	"0"	""	""	""	"FamPatIII2"
"00417861"	""	""	"00417858"	"1"	""	"00006"	"{PMID:Watson 2016:26733463}"	"half-sister"	"F"	""	"United Kingdom (Great Britain)"	"00y00m01d"	"0"	""	""	""	"FamPatIII4"
"00417863"	""	""	""	"1"	""	"00006"	"{PMID:Shukla 2019:31260566}"	"2 generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	"India"	""	"0"	""	""	""	"family"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}"	"{{diseaseid}}"
"00056440"	"01666"
"00417857"	"00244"
"00417858"	"01666"
"00417859"	"00244"
"00417860"	"01666"
"00417861"	"01666"
"00417863"	"00244"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00244, 01666, 06967
## Count = 7
"{{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}}"
"0000043064"	"01666"	"00056440"	"00006"	"Familial, autosomal recessive"	"00y00m00d"	"see paper; data from 3 children, died <2d, ..."	"00y00m00d"	""	""	""	""	""	""	""	""
"0000309230"	"00244"	"00417857"	"00006"	"Familial, autosomal recessive"	"38y"	"see paper; ..., slowly progressive dyspnoea over six years, generalised weakness; 38y-30w pregnant respiratory distress, pre-eclampsia; no pre-natal anomalies, no neonatal death; triangular face, no slanting palpebral fissures, ptosis (operated), prognathia (operated), narrow mandible; adult onset respiratory symptoms, diaphragm high domes, respiratory muscle weakness, no pulmonary hypoplasia, adult nocturnal bi-level positive airway pressure support; very mild dysphagia; thoracic kyphoscoliosis; mild proximal muscle weakness; small hands; no hypertrichosis; no renal anomalies"	""	""	""	""	""	""	""	"MYODRIF"	"respiratory distress, pre-eclampsia"
"0000309231"	"01666"	"00417858"	"00006"	"Familial, autosomal recessive"	""	"prenatal cystic hygroma polyhydramnios; see paper; ..., birth 35w+5, low weight; neonatal death; triangular face, downslanted palpebral fissures, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm right-sided eventration, pulmonary hypoplasia, ventilatory support; generalized muscle weakness; clinodactyly; bilateral cryptorchidism; bilateral renal pelvis distension"	""	""	""	""	""	""	""	""	"perinatally lethal fetal akinesia"
"0000309232"	"00244"	"00417859"	"00006"	"Familial, autosomal recessive"	"08y"	"no pre-natal anomalies; birth at term, weight normal; no neonatal death; triangular face, downslanted palpebral fissures, ptosis, proptosis, prognathia, high-arched palate, dental malocclusion; respiratory insufficiency due to muscle weakness, diaphragm high domes, no pulmonary hypoplasia, nocturnal bi-level positive airway pressure support; generalized muscle weakness, fatigable weakness of swallowing muscles; clinodactyly; congenital generalized hypertrichosis; small kidneys"	""	""	""	""	""	""	""	"MYODRIF"	"congenital myopathy"
"0000309233"	"01666"	"00417860"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., prenatal polyhydramnios; birth 35w+1, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm very high domes, pulmonary hypoplasia; generalized muscle weakness; clinodactyly; unilateral cryptorchidism; unlateral hydronephrosis"	""	""	""	""	""	""	""	""	"perinatally lethal fetal akinesia"
"0000309234"	"01666"	"00417861"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., prenatal cystic hygroma; birth 37w, low weight; neonatal death; triangular face, small chin, cleft palate; respiratory insufficiency due to muscle weakness, diaphragm extremely high domes, pulmonary hypoplasia; generalized muscle weakness; no clinodactyly; renal hypoplasia"	""	""	""	""	""	""	""	""	"perinatally lethal fetal akinesia"
"0000309235"	"00244"	"00417863"	"00006"	"Familial, autosomal recessive"	"01y01m"	"see paper"	""	""	""	""	""	""	""	"MYODRIF"	"myopathy"


## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000056401"	"00056440"	"1"	"00552"	"00552"	"2016-01-08 15:39:41"	"00006"	"2016-01-09 02:57:10"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000419152"	"00417857"	"1"	"00006"	"00006"	"2022-09-27 08:12:32"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000419153"	"00417858"	"1"	"00006"	"00006"	"2022-09-27 08:32:46"	""	""	"arraySNP;SEQ;SEQ-NG-I"	"DNA"	""	"WES"
"0000419154"	"00417859"	"1"	"00006"	"00006"	"2022-09-27 08:51:45"	""	""	"SEQ"	"DNA"	""	""
"0000419155"	"00417860"	"1"	"00006"	"00006"	"2022-09-27 09:07:00"	""	""	"SEQ"	"DNA"	""	""
"0000419156"	"00417861"	"1"	"00006"	"00006"	"2022-09-27 09:09:47"	""	""	"SEQ"	"DNA"	""	""
"0000419157"	"00417863"	"1"	"00006"	"00006"	"2022-09-27 09:25:13"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{geneid}}"
"0000056401"	"MYOD1"
"0000056401"	"OTOG"
"0000419154"	"MYOD1"
"0000419155"	"MYOD1"
"0000419156"	"MYOD1"


## 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 = 7
"{{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}}"
"0000086642"	"3"	"90"	"11"	"17741517"	"17741517"	"subst"	"0"	"00552"	"MYOD1_000001"	"g.17741517C>A"	""	"{PMID:Watson 2016:26733463}, {DOI:Watson 2016:10.1136/jmedgenet-2015-103620}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17719970C>A"	""	"pathogenic"	""
"0000879087"	"3"	"90"	"11"	"17742515"	"17742515"	"subst"	"0"	"00006"	"MYOD1_000002"	"g.17742515G>T"	""	"{PMID:Ashton 2022:35754284}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.17720968G>T"	""	"pathogenic (recessive)"	""
"0000879089"	"3"	"90"	"11"	"17741517"	"17741517"	"subst"	"0"	"00006"	"MYOD1_000001"	"g.17741517C>A"	""	"{PMID:Watson 2016:26733463}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17719970C>A"	""	"pathogenic (recessive)"	""
"0000879090"	"3"	"90"	"11"	"17742515"	"17742515"	"subst"	"0"	"00006"	"MYOD1_000002"	"g.17742515G>T"	""	"{PMID:Lopez 2018:30403323}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.17720968G>T"	""	"pathogenic (recessive)"	""
"0000879091"	"3"	"90"	"11"	"17741517"	"17741517"	"subst"	"0"	"00006"	"MYOD1_000001"	"g.17741517C>A"	""	"{PMID:Watson 2016:26733463}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17719970C>A"	""	"pathogenic (recessive)"	""
"0000879092"	"3"	"90"	"11"	"17742515"	"17742515"	"subst"	"0"	"00006"	"MYOD1_000002"	"g.17742515G>T"	""	"{PMID:Watson 2016:26733463}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.17720968G>T"	""	"pathogenic (recessive)"	""
"0000879093"	"3"	"90"	"11"	"17741906"	"17741906"	"dup"	"0"	"00006"	"MYOD1_000003"	"g.17741906dup"	""	"{PMID:Shukla 2019:31260566}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.17720359dup"	""	"pathogenic (recessive)"	""


## 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 MYOD1
## Count = 7
"{{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}}"
"0000086642"	"00014196"	"90"	"188"	"0"	"188"	"0"	"c.188C>A"	"r.(?)"	"p.(Ser63*)"	"1"
"0000879087"	"00014196"	"90"	"697"	"0"	"697"	"0"	"c.697G>T"	"r.(?)"	"p.(Glu233*)"	""
"0000879089"	"00014196"	"90"	"188"	"0"	"188"	"0"	"c.188C>A"	"r.(?)"	"p.(Ser63*)"	""
"0000879090"	"00014196"	"90"	"697"	"0"	"697"	"0"	"c.697G>T"	"r.(?)"	"p.(Glu233*)"	""
"0000879091"	"00014196"	"90"	"188"	"0"	"188"	"0"	"c.188C>A"	"r.(?)"	"p.(Ser63*)"	""
"0000879092"	"00014196"	"90"	"697"	"0"	"697"	"0"	"c.697G>T"	"r.(?)"	"p.(Glu233*)"	""
"0000879093"	"00014196"	"90"	"577"	"0"	"577"	"0"	"c.577dup"	"r.(?)"	"p.(Tyr193Leufs*85)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}"	"{{variantid}}"
"0000056401"	"0000086642"
"0000419152"	"0000879087"
"0000419153"	"0000879089"
"0000419154"	"0000879090"
"0000419155"	"0000879091"
"0000419156"	"0000879092"
"0000419157"	"0000879093"