### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MYF6)
# 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}}"
"MYF6"	"myogenic factor 6 (herculin)"	"12"	"q21"	"unknown"	"NG_021392.1"	"UD_132118806924"	""	"https://www.LOVD.nl/MYF6"	""	"1"	"7566"	"4618"	"159991"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/MYF6_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2019-09-26 14:41:28"	"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}}"
"00014132"	"MYF6"	"myogenic factor 6 (herculin)"	"001"	"NM_002469.2"	""	"NP_002460.1"	""	""	""	"-91"	"1247"	"729"	"81101408"	"81103257"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"03633"	"CNM3"	"myopathy, centronuclear, type 3 (CNM-3)"	""	"614408"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05126"	"LGMD"	"dystrophy, muscular, limb-girdle (LGMD)"	""	""	""	""	""	"00006"	"2016-01-26 06:05:36"	""	""
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"MYF6"	"03633"


## 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}}"
"00215371"	""	""	""	"1"	""	"00006"	"{PMID:Scalco 2017:28053302}"	""	"M"	""	"Brazil"	""	"0"	""	""	""	"Pat"
"00290803"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00314369"	""	""	""	"1"	""	"00006"	"{PMID:Topf 2020:32528171}"	"analysis 1001 patients with unexplained limb-girdle weakness"	""	""	""	""	"0"	""	""	""	""
"00442778"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"F"	""	""	""	"0"	""	""	""	"Pat150"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00215371"	"05126"
"00290803"	"00198"
"00314369"	"05126"
"00442778"	"05618"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03633, 05126, 05618
## 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}}"
"0000163823"	"05126"	"00215371"	"00006"	"Familial, autosomal recessive"	"16y"	"see paper; ..., 16y-myalgia affecting calf muscles"	""	""	""	""	""	""	""	""	"LGMD2B"	"inflammatory myopathy"	""
"0000332125"	"05618"	"00442778"	"00006"	"Unknown"	""	"Autosomal dominant muscle weakness"	""	""	""	""	""	""	""	""	""	"muscle weakness"	""


## 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}}"
"0000216440"	"00215371"	"1"	"00006"	"00006"	"2007-08-24 21:14:03"	"00006"	"2012-03-04 15:57:26"	"DHPLC;SEQ;SSCA"	"DNA"	""	""
"0000291971"	"00290803"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000315542"	"00314369"	"1"	"00006"	"00006"	"2020-10-12 14:24:44"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444262"	"00442778"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000216440"	"DYSF"
"0000315542"	"MYF6"


## 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 = 13
"{{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}}"
"0000339198"	"0"	"10"	"12"	"81102758"	"81102758"	"subst"	"0.0196872"	"02327"	"MYF6_000001"	"g.81102758C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.80708979C>A"	""	"benign"	""
"0000549265"	"0"	"50"	"12"	"81101799"	"81101799"	"subst"	"0"	"01943"	"MYF6_000002"	"g.81101799C>A"	""	""	""	"MYF6(NM_002469.2):c.301C>A (p.R101S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.80708020C>A"	""	"VUS"	""
"0000597365"	"21"	"50"	"12"	"81101682"	"81101682"	"subst"	"0.000251854"	"00006"	"MYF6_000005"	"g.81101682G>A"	""	"{PMID:Scalco 2017:28053302}"	""	"V62I"	""	"Germline"	""	""	"0"	""	""	"g.80707903G>A"	""	"VUS"	""
"0000648660"	"1"	"50"	"12"	"81101832"	"81101832"	"subst"	"0.00113805"	"03575"	"MYF6_000006"	"g.81101832G>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs28928909}"	"Germline"	""	"rs28928909"	"0"	""	""	"g.80708053G>T"	""	"VUS"	""
"0000679663"	"0"	"30"	"12"	"81101767"	"81101767"	"subst"	"0.000870364"	"01804"	"MYF6_000007"	"g.81101767C>A"	""	""	""	"MYF6(NM_002469.2):c.269C>A (p.(Ala90Asp)), MYF6(NM_002469.3):c.269C>A (p.A90D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000697631"	"0"	"70"	"12"	"81101832"	"81101832"	"subst"	"0.00113805"	"00006"	"MYF6_000006"	"g.81101832G>T"	"1/1001 cases"	"{PMID:Topf 2020:32528171}"	""	""	"combination of variants not reported"	"Germline"	""	""	"0"	""	""	"g.80708053G>T"	""	"likely pathogenic"	""
"0000724261"	"0"	"50"	"12"	"81102370"	"81102370"	"subst"	"6.09132E-5"	"02329"	"MYF6_000004"	"g.81102370G>A"	""	""	""	"MYF6(NM_002469.3):c.587G>A (p.G196E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000946118"	"0"	"50"	"12"	"81101767"	"81101767"	"subst"	"0.000870364"	"00006"	"MYF6_000007"	"g.81101767C>A"	""	"{PMID:Westra 2019:31127727}"	""	""	"no segregation analysis"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.80707988C>A"	""	"VUS"	""
"0000967092"	"0"	"30"	"12"	"81101767"	"81101767"	"subst"	"0.000870364"	"02326"	"MYF6_000007"	"g.81101767C>A"	""	""	""	"MYF6(NM_002469.2):c.269C>A (p.(Ala90Asp)), MYF6(NM_002469.3):c.269C>A (p.A90D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001000347"	"0"	"30"	"12"	"81101832"	"81101832"	"subst"	"0.00113805"	"02326"	"MYF6_000006"	"g.81101832G>T"	""	""	""	"MYF6(NM_002469.3):c.334G>T (p.(Ala112Ser), p.A112S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026233"	"0"	"30"	"12"	"81101850"	"81101850"	"subst"	"0.000528305"	"02326"	"MYF6_000008"	"g.81101850C>A"	""	""	""	"MYF6(NM_002469.3):c.352C>A (p.R118=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001026234"	"0"	"30"	"12"	"81102342"	"81102342"	"subst"	"0.000653786"	"02326"	"MYF6_000009"	"g.81102342T>A"	""	""	""	"MYF6(NM_002469.3):c.559T>A (p.W187R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039489"	"0"	"50"	"12"	"81101832"	"81101832"	"subst"	"0.00113805"	"01804"	"MYF6_000006"	"g.81101832G>T"	""	""	""	"MYF6(NM_002469.3):c.334G>T (p.(Ala112Ser), p.A112S)"	"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 MYF6
## Count = 13
"{{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}}"
"0000339198"	"00014132"	"10"	"748"	"0"	"748"	"0"	"c.*19C>A"	"r.(=)"	"p.(=)"	""
"0000549265"	"00014132"	"50"	"301"	"0"	"301"	"0"	"c.301C>A"	"r.(?)"	"p.(Arg101Ser)"	""
"0000597365"	"00014132"	"50"	"184"	"0"	"184"	"0"	"c.184G>A"	"r.(?)"	"p.(Val62Ile)"	""
"0000648660"	"00014132"	"50"	"334"	"0"	"334"	"0"	"c.334G>T"	"r.(?)"	"p.(Ala112Ser)"	""
"0000679663"	"00014132"	"30"	"269"	"0"	"269"	"0"	"c.269C>A"	"r.(?)"	"p.(Ala90Asp)"	""
"0000697631"	"00014132"	"70"	"334"	"0"	"334"	"0"	"c.334G>T"	"r.(?)"	"p.(Ala112Ser)"	""
"0000724261"	"00014132"	"50"	"587"	"0"	"587"	"0"	"c.587G>A"	"r.(?)"	"p.(Gly196Glu)"	""
"0000946118"	"00014132"	"50"	"269"	"0"	"269"	"0"	"c.269C>A"	"r.(?)"	"p.(Ala90Asp)"	""
"0000967092"	"00014132"	"30"	"269"	"0"	"269"	"0"	"c.269C>A"	"r.(?)"	"p.(Ala90Asp)"	""
"0001000347"	"00014132"	"30"	"334"	"0"	"334"	"0"	"c.334G>T"	"r.(?)"	"p.(Ala112Ser)"	""
"0001026233"	"00014132"	"30"	"352"	"0"	"352"	"0"	"c.352C>A"	"r.(?)"	"p.(=)"	""
"0001026234"	"00014132"	"30"	"559"	"0"	"559"	"0"	"c.559T>A"	"r.(?)"	"p.(Trp187Arg)"	""
"0001039489"	"00014132"	"50"	"334"	"0"	"334"	"0"	"c.334G>T"	"r.(?)"	"p.(Ala112Ser)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000216440"	"0000597365"
"0000291971"	"0000648660"
"0000315542"	"0000697631"
"0000444262"	"0000946118"