### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MYOZ2)
# 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}}"
"MYOZ2" "myozenin 2" "4" "q26-q27" "unknown" "NG_029747.1" "UD_134408400337" "" "https://www.LOVD.nl/MYOZ2" "" "1" "1330" "51778" "605602" "1" "1" "1" "1" "This database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/MYOZ2_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 17:51:34" "00000" "2024-10-29 21:08:56"
## 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}}"
"00014204" "MYOZ2" "myozenin 2" "001" "NM_016599.4" "" "NP_057683.1" "" "" "" "-213" "2384" "795" "120056939" "120108944" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{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"
"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"
"03458" "CMH16" "cardiomyopathy, hypertrophic, familial, type 16 (CMH-16)" "" "613838" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43"
"04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37"
"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 = 1
"{{geneid}}" "{{diseaseid}}"
"MYOZ2" "03458"
## Individuals ## Do not remove or alter this header ##
## Count = 27
"{{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}}"
"00108627" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "F" "" "Italy" "" "0" "" "" "" "Pat692"
"00108640" "" "" "" "1" "" "01401" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "F" "" "Italy" "" "0" "" "" "" "Pat903"
"00128426" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "M" "" "Sweden" "0" "" "" "" "" "155"
"00210348" "" "" "" "6" "" "00006" "{PMID:Osio 2007:17347475}" "4-generation family, 6 affecteds (4F, 2M)" "F;M" "no" "United States" "" "0" "" "" "African-American" "17347475-Fam109"
"00210349" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "proband, 2 deceased CMH siblings, 2 unaffected non-carrier children" "" "" "United States" "" "0" "" "" "white" "17347475-Pat1"
"00210350" "" "" "" "1" "" "00006" "{PMID:Aurino 2008:19472918}" "" "" "" "Italy" "" "0" "" "" "" ""
"00210351" "" "" "" "13" "" "00006" "{PMID:Aurino 2008:19472918}" "" "" "" "Italy" "" "0" "" "" "" ""
"00210352" "" "" "" "2" "" "00006" "{PMID:Aurino 2008:19472918}" "" "" "" "Italy" "" "0" "" "" "" ""
"00210353" "" "" "" "1" "" "00006" "{PMID:Posch 2007:17434779}" "" "" "" "Germany" "" "0" "" "" "" ""
"00210354" "" "" "" "1" "" "00006" "{PMID:Posch 2007:17434779}" "" "" "" "Germany" "" "0" "" "" "" ""
"00210355" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210356" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210357" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210358" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210359" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210360" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210361" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210362" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210363" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210364" "" "" "" "1" "" "00006" "{PMID:Osio 2007:17347475}" "" "" "" "United States" "" "0" "" "" "" "17347475-?"
"00210368" "" "" "" "1" "" "00006" "{PMID:Ruggiero 2013:22987565}" "mouse model" "" "" "" "" "0" "" "" "" "mouse"
"00210369" "" "" "" "1" "" "00006" "{PMID:Ruggiero 2013:22987565}" "mouse model" "" "" "" "" "0" "" "" "" "22987565-mouse"
"00295203" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00317583" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" ""
"00446851" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat153"
"00446877" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat190"
"00453232" "" "" "" "1" "" "02515" "Fusco 2042, submitted" "" "F" "" "Italy" "" "0" "" "" "white" "Fam259Pat274"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 27
"{{individualid}}" "{{diseaseid}}"
"00108627" "00351"
"00108640" "00351"
"00128426" "00198"
"00210348" "00351"
"00210349" "00351"
"00210350" "05126"
"00210351" "05126"
"00210352" "05126"
"00210353" "00352"
"00210354" "00352"
"00210355" "00351"
"00210356" "00351"
"00210357" "00351"
"00210358" "00351"
"00210359" "00351"
"00210360" "00351"
"00210361" "00351"
"00210362" "00351"
"00210363" "00351"
"00210364" "00351"
"00210368" "00351"
"00210369" "00351"
"00295203" "00198"
"00317583" "04172"
"00446851" "04173"
"00446877" "04173"
"00453232" "04172"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00352, 03458, 04172, 04173, 05126
## Count = 26
"{{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}}"
"0000086101" "00351" "00108627" "01401" "Isolated (sporadic)" "" "fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; History of hypertension; left ventricular wall thickness (mm) 22; left ventricular ejection fraction 0.65" "65y" "" "" "" "" "" "" "" "" "" ""
"0000086114" "00351" "00108640" "01401" "Isolated (sporadic)" "" "no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; myasthenia gravis, type 2 diabetes mellitus, hepatitis C, premature ventricular contractions, premature atrial contractions, paroxysmal supraventricular tachycardia, sinus node dysfunction; left ventricular wall thickness (mm) 18; left ventricular ejection fraction 0.59" "52y" "" "" "" "" "" "" "" "" "" ""
"0000100645" "00198" "00128426" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" ""
"0000158914" "00351" "00210348" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "CMH-16" "hypertrophic cardiomyopathy" ""
"0000158915" "00351" "00210349" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158916" "05126" "00210350" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" ""
"0000158917" "05126" "00210351" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" ""
"0000158918" "05126" "00210352" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" ""
"0000158919" "00352" "00210353" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" ""
"0000158920" "00352" "00210354" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" ""
"0000158921" "00351" "00210355" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158922" "00351" "00210356" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158923" "00351" "00210357" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158924" "00351" "00210358" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158925" "00351" "00210359" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158926" "00351" "00210360" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158927" "00351" "00210361" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158928" "00351" "00210362" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158929" "00351" "00210363" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158930" "00351" "00210364" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000158934" "00351" "00210368" "00006" "Familial, autosomal dominant" "" "see paper; molecular, cellular, and gross cardiac hypertrophy, preserved systolic function, interstitial fibrosis, ..." "" "" "" "" "" "" "" "" "CMH-16" "hypertrophic cardiomyopathy" ""
"0000158935" "00351" "00210369" "00006" "Familial, autosomal dominant" "" "see paper; molecular, cellular, and gross cardiac hypertrophy, preserved systolic function, interstitial fibrosis, ..." "" "" "" "" "" "" "" "" "CMH-16" "hypertrophic cardiomyopathy" ""
"0000241329" "04172" "00317583" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypertrophic cardiomyopathy" ""
"0000336055" "04173" "00446851" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" ""
"0000336081" "04173" "00446877" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" ""
"0000341878" "04172" "00453232" "02515" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "heart rhythm disorder" ""
## Screenings ## Do not remove or alter this header ##
## Count = 27
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000109092" "00108627" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000109105" "00108640" "1" "01401" "00006" "2017-07-28 12:12:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000129264" "00128426" "1" "02244" "02244" "2017-09-15 16:48:36" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)"
"0000211424" "00210348" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211425" "00210349" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211426" "00210350" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000211427" "00210351" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000211428" "00210352" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "DHPLC;SEQ" "DNA" "" ""
"0000211429" "00210353" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211430" "00210354" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211431" "00210355" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211432" "00210356" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211433" "00210357" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211434" "00210358" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211435" "00210359" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211436" "00210360" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211437" "00210361" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211438" "00210362" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211439" "00210363" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211440" "00210364" "1" "00006" "00006" "2012-04-20 11:57:55" "" "" "SEQ" "DNA" "" ""
"0000211444" "00210368" "1" "00006" "00006" "2018-12-27 18:46:03" "" "" "SEQ" "DNA" "" ""
"0000211445" "00210369" "1" "00006" "00006" "2018-12-27 18:51:14" "" "" "SEQ" "DNA" "" ""
"0000296371" "00295203" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000318765" "00317583" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel"
"0000448426" "00446851" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000448452" "00446877" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000454843" "00453232" "1" "02515" "00006" "2024-08-16 15:35:20" "" "" "SEQ-NG" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 20
"{{screeningid}}" "{{geneid}}"
"0000211424" "MYOZ2"
"0000211425" "MYOZ2"
"0000211426" "MYOZ2"
"0000211427" "MYOZ2"
"0000211428" "MYOZ2"
"0000211429" "MYOZ2"
"0000211430" "MYOZ2"
"0000211431" "MYOZ2"
"0000211432" "MYOZ2"
"0000211433" "MYOZ2"
"0000211434" "MYOZ2"
"0000211435" "MYOZ2"
"0000211436" "MYOZ2"
"0000211437" "MYOZ2"
"0000211438" "MYOZ2"
"0000211439" "MYOZ2"
"0000211440" "MYOZ2"
"0000211444" "MYOZ2"
"0000211445" "MYOZ2"
"0000318765" "MYOZ2"
## 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 = 139
"{{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}}"
"0000175174" "1" "70" "4" "120085477" "120085477" "subst" "8.53353E-5" "01401" "MYOZ2_000032" "g.120085477T>C" "" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "" "Germline" "" "" "0" "" "" "g.119164322T>C" "" "likely pathogenic" ""
"0000175193" "1" "90" "4" "120057716" "120057716" "subst" "4.0714E-6" "01401" "MYOZ2_000031" "g.120057716A>C" "reads 0.5" "{PMID:Cecconi 2016:27600940}, {DOI:Cecconi 2016:10.3892/ijmm.2016.2732}" "" "" "NCBI reference KU508455" "Germline" "" "" "0" "" "" "g.119136561A>C" "" "pathogenic" ""
"0000218413" "0" "50" "4" "120107234" "120107234" "subst" "5.28116E-5" "02244" "MYOZ2_000033" "g.120107234C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.119186079C>T" "" "VUS" ""
"0000246205" "0" "10" "4" "120079159" "120079159" "subst" "0.659079" "02330" "MYOZ2_000005" "g.120079159A>G" "" "" "" "MYOZ2(NM_016599.4):c.247-18A>G, MYOZ2(NM_016599.5):c.247-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119158004A>G" "" "benign" ""
"0000246206" "0" "10" "4" "120072187" "120072187" "subst" "0.00943243" "02330" "MYOZ2_000006" "g.120072187A>G" "" "" "" "MYOZ2(NM_016599.4):c.237A>G (p.A79=), MYOZ2(NM_016599.5):c.237A>G (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119151032A>G" "" "benign" ""
"0000246207" "0" "10" "4" "120085448" "120085448" "subst" "0.0419907" "02330" "MYOZ2_000004" "g.120085448A>G" "" "" "" "MYOZ2(NM_016599.4):c.459A>G (p.E153=), MYOZ2(NM_016599.5):c.459A>G (p.E153=, p.(Glu153=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164293A>G" "" "benign" ""
"0000246272" "0" "30" "4" "120107298" "120107298" "subst" "0.00227622" "02330" "MYOZ2_000002" "g.120107298A>G" "" "" "" "MYOZ2(NM_016599.5):c.738A>G (p.I246M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119186143A>G" "" "likely benign" ""
"0000247846" "0" "10" "4" "120079159" "120079159" "subst" "0.659079" "02325" "MYOZ2_000005" "g.120079159A>G" "" "" "" "MYOZ2(NM_016599.4):c.247-18A>G, MYOZ2(NM_016599.5):c.247-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119158004A>G" "" "benign" ""
"0000247865" "0" "30" "4" "120072187" "120072187" "subst" "0.00943243" "02325" "MYOZ2_000006" "g.120072187A>G" "" "" "" "MYOZ2(NM_016599.4):c.237A>G (p.A79=), MYOZ2(NM_016599.5):c.237A>G (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119151032A>G" "" "likely benign" ""
"0000250628" "0" "10" "4" "120079159" "120079159" "subst" "0.659079" "02326" "MYOZ2_000005" "g.120079159A>G" "" "" "" "MYOZ2(NM_016599.4):c.247-18A>G, MYOZ2(NM_016599.5):c.247-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119158004A>G" "" "benign" ""
"0000250647" "0" "10" "4" "120072187" "120072187" "subst" "0.00943243" "02326" "MYOZ2_000006" "g.120072187A>G" "" "" "" "MYOZ2(NM_016599.4):c.237A>G (p.A79=), MYOZ2(NM_016599.5):c.237A>G (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119151032A>G" "" "benign" ""
"0000250701" "0" "10" "4" "120057709" "120057709" "subst" "0.0025402" "02326" "MYOZ2_000036" "g.120057709A>C" "" "" "" "MYOZ2(NM_016599.4):c.29A>C (p.Q10P), MYOZ2(NM_016599.5):c.29A>C (p.Q10P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136554A>C" "" "benign" ""
"0000251957" "0" "30" "4" "120057709" "120057709" "subst" "2.03542E-5" "02326" "MYOZ2_000037" "g.120057709A>G" "" "" "" "MYOZ2(NM_016599.4):c.29A>G (p.Q10R), MYOZ2(NM_016599.5):c.29A>G (p.Q10R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136554A>G" "" "likely benign" ""
"0000252080" "0" "30" "4" "120085352" "120085352" "subst" "0" "02326" "MYOZ2_000020" "g.120085352A>T" "" "" "" "MYOZ2(NM_016599.4):c.377-14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164197A>T" "" "likely benign" ""
"0000252081" "0" "30" "4" "120107109" "120107109" "subst" "0" "02326" "MYOZ2_000029" "g.120107109A>T" "" "" "" "MYOZ2(NM_016599.4):c.561-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119185954A>T" "" "likely benign" ""
"0000252980" "0" "10" "4" "120079159" "120079159" "subst" "0.659079" "01943" "MYOZ2_000005" "g.120079159A>G" "" "" "" "MYOZ2(NM_016599.4):c.247-18A>G, MYOZ2(NM_016599.5):c.247-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119158004A>G" "" "benign" ""
"0000252999" "0" "10" "4" "120072187" "120072187" "subst" "0.00943243" "01943" "MYOZ2_000006" "g.120072187A>G" "" "" "" "MYOZ2(NM_016599.4):c.237A>G (p.A79=), MYOZ2(NM_016599.5):c.237A>G (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119151032A>G" "" "benign" ""
"0000253053" "0" "10" "4" "120057709" "120057709" "subst" "0.0025402" "01943" "MYOZ2_000036" "g.120057709A>C" "" "" "" "MYOZ2(NM_016599.4):c.29A>C (p.Q10P), MYOZ2(NM_016599.5):c.29A>C (p.Q10P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136554A>C" "" "benign" ""
"0000253345" "0" "10" "4" "120085448" "120085448" "subst" "0.0419907" "01943" "MYOZ2_000004" "g.120085448A>G" "" "" "" "MYOZ2(NM_016599.4):c.459A>G (p.E153=), MYOZ2(NM_016599.5):c.459A>G (p.E153=, p.(Glu153=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164293A>G" "" "benign" ""
"0000253654" "0" "10" "4" "120079290" "120079290" "subst" "0.00255577" "01943" "MYOZ2_000027" "g.120079290A>G" "" "" "" "MYOZ2(NM_016599.4):c.360A>G (p.P120=), MYOZ2(NM_016599.5):c.360A>G (p.P120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119158135A>G" "" "benign" ""
"0000292885" "0" "50" "4" "120072098" "120072098" "subst" "4.06296E-6" "02330" "MYOZ2_000013" "g.120072098C>T" "" "" "" "MYOZ2(NM_016599.5):c.148C>T (p.L50F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119150943C>T" "" "VUS" ""
"0000292886" "0" "10" "4" "120079315" "120079315" "subst" "0.000178853" "02330" "MYOZ2_000019" "g.120079315T>A" "" "" "" "MYOZ2(NM_016599.5):c.376+9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119158160T>A" "" "benign" ""
"0000292887" "0" "10" "4" "120057719" "120057719" "subst" "8.95838E-5" "02330" "MYOZ2_000038" "g.120057719G>A" "" "" "" "MYOZ2(NM_016599.4):c.39G>A (p.Q13=, p.=), MYOZ2(NM_016599.5):c.39G>A (p.Q13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136564G>A" "" "benign" ""
"0000292888" "0" "50" "4" "120085396" "120085398" "del" "0" "02330" "MYOZ2_000022" "g.120085396_120085398del" "" "" "" "MYOZ2(NM_016599.5):c.407_409delCTG (p.P136_E137delinsQ)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164241_119164243del" "" "VUS" ""
"0000292889" "0" "50" "4" "120085468" "120085468" "subst" "7.72E-5" "02330" "MYOZ2_000023" "g.120085468C>T" "" "" "" "MYOZ2(NM_016599.4):c.479C>T (p.P160L), MYOZ2(NM_016599.5):c.479C>T (p.P160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164313C>T" "" "VUS" ""
"0000292890" "0" "30" "4" "120085477" "120085477" "subst" "8.53353E-5" "02330" "MYOZ2_000032" "g.120085477T>C" "" "" "" "MYOZ2(NM_016599.5):c.488T>C (p.L163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164322T>C" "" "likely benign" ""
"0000292891" "0" "50" "4" "120107272" "120107272" "subst" "4.06342E-6" "02330" "MYOZ2_000025" "g.120107272G>A" "" "" "" "MYOZ2(NM_016599.4):c.712G>A (p.G238R), MYOZ2(NM_016599.5):c.712G>A (p.G238R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119186117G>A" "" "VUS" ""
"0000292892" "0" "10" "4" "120107310" "120107310" "subst" "0.00202518" "02330" "MYOZ2_000026" "g.120107310C>T" "" "" "" "MYOZ2(NM_016599.4):c.750C>T (p.T250=), MYOZ2(NM_016599.5):c.750C>T (p.T250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119186155C>T" "" "benign" ""
"0000292893" "0" "10" "4" "120057775" "120057775" "subst" "0.00105911" "02330" "MYOZ2_000010" "g.120057775C>T" "" "" "" "MYOZ2(NM_016599.4):c.76+19C>T, MYOZ2(NM_016599.5):c.76+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136620C>T" "" "benign" ""
"0000292894" "0" "10" "4" "120057776" "120057776" "subst" "0.000536193" "02330" "MYOZ2_000011" "g.120057776G>A" "" "" "" "MYOZ2(NM_016599.4):c.76+20G>A, MYOZ2(NM_016599.5):c.76+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136621G>A" "" "benign" ""
"0000296255" "0" "30" "4" "120079220" "120079220" "subst" "0" "02325" "MYOZ2_000018" "g.120079220T>C" "" "" "" "MYOZ2(NM_016599.5):c.290T>C (p.L97S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119158065T>C" "" "likely benign" ""
"0000296256" "0" "30" "4" "120085361" "120085361" "subst" "4.06441E-6" "02325" "MYOZ2_000021" "g.120085361C>T" "" "" "" "MYOZ2(NM_016599.4):c.377-5C>T, MYOZ2(NM_016599.5):c.377-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164206C>T" "" "likely benign" ""
"0000296257" "0" "10" "4" "120107108" "120107108" "dup" "0" "02325" "MYOZ2_000024" "g.120107108dup" "" "" "" "MYOZ2(NM_016599.5):c.561-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119185953dup" "" "benign" ""
"0000296258" "0" "50" "4" "120107272" "120107272" "subst" "4.06342E-6" "02325" "MYOZ2_000025" "g.120107272G>A" "" "" "" "MYOZ2(NM_016599.4):c.712G>A (p.G238R), MYOZ2(NM_016599.5):c.712G>A (p.G238R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119186117G>A" "" "VUS" ""
"0000296259" "0" "30" "4" "120057776" "120057776" "subst" "0.000536193" "02325" "MYOZ2_000011" "g.120057776G>A" "" "" "" "MYOZ2(NM_016599.4):c.76+20G>A, MYOZ2(NM_016599.5):c.76+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136621G>A" "" "likely benign" ""
"0000296260" "0" "30" "4" "120057764" "120057764" "subst" "2.04539E-5" "02325" "MYOZ2_000039" "g.120057764T>C" "" "" "" "MYOZ2(NM_016599.5):c.76+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136609T>C" "" "likely benign" ""
"0000299880" "0" "30" "4" "120079205" "120079205" "subst" "4.06246E-6" "02326" "MYOZ2_000017" "g.120079205T>C" "" "" "" "MYOZ2(NM_016599.4):c.275T>C (p.V92A), MYOZ2(NM_016599.5):c.275T>C (p.V92A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119158050T>C" "" "likely benign" ""
"0000299881" "0" "30" "4" "120085361" "120085361" "subst" "4.06441E-6" "02326" "MYOZ2_000021" "g.120085361C>T" "" "" "" "MYOZ2(NM_016599.4):c.377-5C>T, MYOZ2(NM_016599.5):c.377-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164206C>T" "" "likely benign" ""
"0000299882" "0" "50" "4" "120085468" "120085468" "subst" "7.72E-5" "02326" "MYOZ2_000023" "g.120085468C>T" "" "" "" "MYOZ2(NM_016599.4):c.479C>T (p.P160L), MYOZ2(NM_016599.5):c.479C>T (p.P160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164313C>T" "" "VUS" ""
"0000299883" "0" "50" "4" "120107272" "120107272" "subst" "4.06342E-6" "02326" "MYOZ2_000025" "g.120107272G>A" "" "" "" "MYOZ2(NM_016599.4):c.712G>A (p.G238R), MYOZ2(NM_016599.5):c.712G>A (p.G238R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119186117G>A" "" "VUS" ""
"0000299884" "0" "10" "4" "120072006" "120072006" "subst" "0.000854652" "02326" "MYOZ2_000012" "g.120072006C>T" "" "" "" "MYOZ2(NM_016599.4):c.77-21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119150851C>T" "" "benign" ""
"0000302785" "0" "50" "4" "120057678" "120057678" "dup" "0" "01943" "MYOZ2_000035" "g.120057678dup" "" "" "" "MYOZ2(NM_016599.4):c.-3dupA, MYOZ2(NM_016599.5):c.-3dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136523dup" "" "VUS" ""
"0000302786" "0" "50" "4" "120072108" "120072108" "subst" "2.43793E-5" "01943" "MYOZ2_000014" "g.120072108G>A" "" "" "" "MYOZ2(NM_016599.4):c.158G>A (p.R53H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119150953G>A" "" "VUS" ""
"0000302787" "0" "30" "4" "120057719" "120057719" "subst" "8.95838E-5" "01943" "MYOZ2_000038" "g.120057719G>A" "" "" "" "MYOZ2(NM_016599.4):c.39G>A (p.Q13=, p.=), MYOZ2(NM_016599.5):c.39G>A (p.Q13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136564G>A" "" "likely benign" ""
"0000302788" "0" "50" "4" "120085468" "120085468" "subst" "7.72E-5" "01943" "MYOZ2_000023" "g.120085468C>T" "" "" "" "MYOZ2(NM_016599.4):c.479C>T (p.P160L), MYOZ2(NM_016599.5):c.479C>T (p.P160L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119164313C>T" "" "VUS" ""
"0000302789" "0" "30" "4" "120107309" "120107309" "subst" "8.13292E-6" "01943" "MYOZ2_000031" "g.120107309C>T" "" "" "" "MYOZ2(NM_016599.4):c.749C>T (p.T250I), MYOZ2(NM_016599.5):c.749C>T (p.T250I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119186154C>T" "" "likely benign" ""
"0000302790" "0" "10" "4" "120107310" "120107310" "subst" "0.00202518" "01943" "MYOZ2_000026" "g.120107310C>T" "" "" "" "MYOZ2(NM_016599.4):c.750C>T (p.T250=), MYOZ2(NM_016599.5):c.750C>T (p.T250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119186155C>T" "" "benign" ""
"0000302791" "0" "10" "4" "120057775" "120057775" "subst" "0.00105911" "01943" "MYOZ2_000010" "g.120057775C>T" "" "" "" "MYOZ2(NM_016599.4):c.76+19C>T, MYOZ2(NM_016599.5):c.76+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.119136620C>T" "" "benign" ""
"0000442913" "1" "90" "4" "120072092" "120072092" "subst" "0" "00006" "MYOZ2_000001" "g.120072092T>C" "" "{PMID:Osio 2007:17347475}, {OMIM613838:0001}" "" "15072T>C (S48P)" "mapped by linkage; not in 1316 control chromosomes; no variants 2nd chromosome" "Germline" "" "" "0" "" "" "g.119150937T>C" "" "pathogenic" ""
"0000442914" "1" "70" "4" "120107298" "120107298" "subst" "0.00227622" "00006" "MYOZ2_000002" "g.120107298A>G" "1/561 probands" "{PMID:Osio 2007:17347475}, {OMIM613838:0002}" "" "50278A>G (I246M)" "no variants 2nd chromosome ; not in 1034 control chromosomes" "Germline" "" "" "0" "" "" "g.119186143A>G" "" "likely pathogenic" ""
"0000442915" "0" "30" "4" "120072187" "120072187" "subst" "0.00943243" "00006" "MYOZ2_000006" "g.120072187A>G" "1/180" "{PMID:Aurino 2008:19472918}" "" "A78A" "" "Germline" "" "rs17851524" "0" "" "" "g.119151032A>G" "" "likely benign" ""
"0000442916" "0" "30" "4" "120079159" "120079159" "subst" "0.659079" "00006" "MYOZ2_000005" "g.120079159A>G" "13/180" "{PMID:Aurino 2008:19472918}" "" "245-18A>G" "" "Germline" "" "rs11721566" "0" "" "" "g.119158004A>G" "" "likely benign" ""
"0000442917" "0" "30" "4" "120085448" "120085448" "subst" "0.0419907" "00006" "MYOZ2_000004" "g.120085448A>G" "2/180" "{PMID:Aurino 2008:19472918}" "" "E152E" "" "Germline" "" "rs7687613" "0" "" "" "g.119164293A>G" "" "likely benign" ""
"0000442918" "0" "50" "4" "120072187" "120072187" "subst" "0.00943243" "00006" "MYOZ2_000006" "g.120072187A>G" "1/61 patients" "{PMID:Posch 2007:17434779}" "" "A79A" "" "Germline" "" "rs17851524" "0" "" "" "g.119151032A>G" "" "VUS" ""
"0000442919" "0" "50" "4" "120085448" "120085448" "subst" "0.0419907" "00006" "MYOZ2_000004" "g.120085448A>G" "1/61 patients" "{PMID:Posch 2007:17434779}" "" "E153E" "" "Germline" "" "rs7687613" "0" "" "" "g.119164293A>G" "" "VUS" ""
"0000442920" "0" "30" "4" "120057065" "120057065" "subst" "0" "00006" "MYOZ2_000003" "g.120057065A>G" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:45A>G" "" "Germline" "" "rs11559058" "0" "" "" "g.119135910A>G" "" "likely benign" ""
"0000442921" "0" "30" "4" "0" "0" "" "0" "00006" "MYOZ2_000000" "g.?" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:90C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000442922" "0" "30" "4" "0" "0" "" "0" "00006" "MYOZ2_000000" "g.?" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:129insT" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000442923" "0" "30" "4" "0" "0" "" "0" "00006" "MYOZ2_000000" "g.?" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:659insA" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000442924" "0" "30" "4" "0" "0" "" "0" "00006" "MYOZ2_000000" "g.?" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:832G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000442925" "0" "30" "4" "0" "0" "" "0" "00006" "MYOZ2_000000" "g.?" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:15167A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000442926" "0" "30" "4" "0" "0" "" "0" "00006" "MYOZ2_000000" "g.?" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:22139A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000442927" "0" "30" "4" "0" "0" "" "0" "00006" "MYOZ2_000000" "g.?" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:22367G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000442928" "0" "30" "4" "120085448" "120085448" "subst" "0.0419907" "00006" "MYOZ2_000004" "g.120085448A>G" "" "{PMID:Osio 2007:17347475}" "" "28428A>G (Glu153Glu)" "" "Germline" "" "rs7687613" "0" "" "" "g.119164293A>G" "" "likely benign" ""
"0000442929" "0" "30" "4" "0" "0" "" "0" "00006" "MYOZ2_000000" "g.?" "" "{PMID:Osio 2007:17347475}" "" "NC_000004:50089insT" "" "Germline" "" "" "0" "" "" "" "" "likely benign" ""
"0000442933" "1" "90" "4" "120072092" "120072092" "subst" "0" "00006" "MYOZ2_000001" "g.120072092T>C" "" "{PMID:Ruggiero 2013:22987565}" "" "" "mouse model" "animal model" "yes" "" "0" "" "" "g.119150937T>C" "" "pathogenic (dominant)" ""
"0000442934" "1" "90" "4" "120107298" "120107298" "subst" "0.00227622" "00006" "MYOZ2_000002" "g.120107298A>G" "" "{PMID:Ruggiero 2013:22987565}" "" "" "mouse model" "animal model" "" "" "0" "" "" "g.119186143A>G" "" "pathogenic (dominant)" ""
"0000521378" "0" "10" "4" "120057678" "120057678" "dup" "0" "02330" "MYOZ2_000035" "g.120057678dup" "" "" "" "MYOZ2(NM_016599.4):c.-3dupA, MYOZ2(NM_016599.5):c.-3dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119136523dup" "" "benign" ""
"0000521380" "0" "50" "4" "120057709" "120057709" "subst" "2.03542E-5" "02327" "MYOZ2_000037" "g.120057709A>G" "" "" "" "MYOZ2(NM_016599.4):c.29A>G (p.Q10R), MYOZ2(NM_016599.5):c.29A>G (p.Q10R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119136554A>G" "" "VUS" ""
"0000521381" "0" "30" "4" "120057709" "120057709" "subst" "2.03542E-5" "02325" "MYOZ2_000037" "g.120057709A>G" "" "" "" "MYOZ2(NM_016599.4):c.29A>G (p.Q10R), MYOZ2(NM_016599.5):c.29A>G (p.Q10R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119136554A>G" "" "likely benign" ""
"0000521382" "0" "30" "4" "120057766" "120057766" "subst" "0.000118673" "02327" "MYOZ2_000041" "g.120057766A>G" "" "" "" "MYOZ2(NM_016599.5):c.76+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119136611A>G" "" "likely benign" ""
"0000521384" "0" "30" "4" "120057775" "120057775" "subst" "0.00105911" "02327" "MYOZ2_000010" "g.120057775C>T" "" "" "" "MYOZ2(NM_016599.4):c.76+19C>T, MYOZ2(NM_016599.5):c.76+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119136620C>T" "" "likely benign" ""
"0000521385" "0" "30" "4" "120057776" "120057776" "subst" "0.000536193" "02326" "MYOZ2_000011" "g.120057776G>A" "" "" "" "MYOZ2(NM_016599.4):c.76+20G>A, MYOZ2(NM_016599.5):c.76+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119136621G>A" "" "likely benign" ""
"0000521386" "0" "10" "4" "120072073" "120072073" "subst" "1.21885E-5" "02330" "MYOZ2_000043" "g.120072073C>T" "" "" "" "MYOZ2(NM_016599.5):c.123C>T (p.D41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119150918C>T" "" "benign" ""
"0000521387" "0" "50" "4" "120072098" "120072098" "subst" "4.06296E-6" "02327" "MYOZ2_000013" "g.120072098C>T" "" "" "" "MYOZ2(NM_016599.5):c.148C>T (p.L50F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119150943C>T" "" "VUS" ""
"0000521388" "0" "10" "4" "120072187" "120072187" "subst" "0.00943243" "02327" "MYOZ2_000006" "g.120072187A>G" "" "" "" "MYOZ2(NM_016599.4):c.237A>G (p.A79=), MYOZ2(NM_016599.5):c.237A>G (p.A79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119151032A>G" "" "benign" ""
"0000521389" "0" "10" "4" "120072233" "120072233" "subst" "0.656332" "02327" "MYOZ2_000044" "g.120072233G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119151078G>C" "" "benign" ""
"0000521390" "0" "10" "4" "120079159" "120079159" "subst" "0.659079" "02327" "MYOZ2_000005" "g.120079159A>G" "" "" "" "MYOZ2(NM_016599.4):c.247-18A>G, MYOZ2(NM_016599.5):c.247-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119158004A>G" "" "benign" ""
"0000521391" "0" "30" "4" "120079227" "120079227" "subst" "0" "02327" "MYOZ2_000045" "g.120079227T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119158072T>G" "" "likely benign" ""
"0000521392" "0" "30" "4" "120079233" "120079233" "subst" "0.000113804" "02326" "MYOZ2_000046" "g.120079233G>A" "" "" "" "MYOZ2(NM_016599.4):c.303G>A (p.S101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119158078G>A" "" "likely benign" ""
"0000521393" "0" "10" "4" "120085354" "120085354" "subst" "4.06468E-6" "02330" "MYOZ2_000047" "g.120085354A>G" "" "" "" "MYOZ2(NM_016599.5):c.377-12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119164199A>G" "" "benign" ""
"0000521394" "0" "50" "4" "120085436" "120085436" "subst" "1.21912E-5" "01943" "MYOZ2_000048" "g.120085436A>T" "" "" "" "MYOZ2(NM_016599.4):c.447A>T (p.Q149H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119164281A>T" "" "VUS" ""
"0000521395" "0" "10" "4" "120107108" "120107108" "subst" "1.66138E-5" "02330" "MYOZ2_000049" "g.120107108T>A" "" "" "" "MYOZ2(NM_016599.5):c.561-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119185953T>A" "" "benign" ""
"0000521396" "0" "30" "4" "120107108" "120107108" "subst" "1.66138E-5" "02327" "MYOZ2_000049" "g.120107108T>A" "" "" "" "MYOZ2(NM_016599.5):c.561-13T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119185953T>A" "" "likely benign" ""
"0000521397" "0" "30" "4" "120107108" "120107108" "del" "0" "02325" "MYOZ2_000050" "g.120107108del" "" "" "" "MYOZ2(NM_016599.5):c.561-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119185953del" "" "likely benign" ""
"0000521399" "0" "30" "4" "120107115" "120107115" "subst" "0" "02327" "MYOZ2_000052" "g.120107115C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119185960C>T" "" "likely benign" ""
"0000521400" "0" "50" "4" "120107126" "120107126" "subst" "0" "02327" "MYOZ2_000053" "g.120107126C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119185971C>T" "" "VUS" ""
"0000521401" "0" "30" "4" "120107248" "120107248" "subst" "0.000284389" "02330" "MYOZ2_000054" "g.120107248C>T" "" "" "" "MYOZ2(NM_016599.4):c.688C>T (p.R230W), MYOZ2(NM_016599.5):c.688C>T (p.R230W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186093C>T" "" "likely benign" ""
"0000521402" "0" "30" "4" "120107248" "120107248" "subst" "0.000284389" "02326" "MYOZ2_000054" "g.120107248C>T" "" "" "" "MYOZ2(NM_016599.4):c.688C>T (p.R230W), MYOZ2(NM_016599.5):c.688C>T (p.R230W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186093C>T" "" "likely benign" ""
"0000521403" "0" "50" "4" "120107272" "120107272" "subst" "4.06342E-6" "02327" "MYOZ2_000025" "g.120107272G>A" "" "" "" "MYOZ2(NM_016599.4):c.712G>A (p.G238R), MYOZ2(NM_016599.5):c.712G>A (p.G238R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186117G>A" "" "VUS" ""
"0000521404" "0" "50" "4" "120107309" "120107309" "subst" "8.13292E-6" "02327" "MYOZ2_000031" "g.120107309C>T" "" "" "" "MYOZ2(NM_016599.4):c.749C>T (p.T250I), MYOZ2(NM_016599.5):c.749C>T (p.T250I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186154C>T" "" "VUS" ""
"0000521405" "0" "10" "4" "120107310" "120107310" "subst" "0.00202518" "02327" "MYOZ2_000026" "g.120107310C>T" "" "" "" "MYOZ2(NM_016599.4):c.750C>T (p.T250=), MYOZ2(NM_016599.5):c.750C>T (p.T250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186155C>T" "" "benign" ""
"0000521406" "0" "50" "4" "120107311" "120107311" "subst" "1.62682E-5" "02330" "MYOZ2_000055" "g.120107311G>A" "" "" "" "MYOZ2(NM_016599.5):c.751G>A (p.E251K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186156G>A" "" "VUS" ""
"0000521407" "0" "50" "4" "120107336" "120107336" "del" "0" "02330" "MYOZ2_000056" "g.120107336del" "" "" "" "MYOZ2(NM_016599.5):c.776delC (p.P259Qfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186181del" "" "VUS" ""
"0000521408" "0" "30" "4" "120107438" "120107438" "subst" "0" "02327" "MYOZ2_000057" "g.120107438A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186283A>G" "" "likely benign" ""
"0000521409" "0" "10" "4" "120107522" "120107522" "subst" "0" "02327" "MYOZ2_000058" "g.120107522C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186367C>T" "" "benign" ""
"0000521410" "0" "30" "4" "120107576" "120107576" "subst" "0" "02327" "MYOZ2_000059" "g.120107576T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186421T>G" "" "likely benign" ""
"0000521411" "0" "10" "4" "120107683" "120107683" "subst" "0" "02327" "MYOZ2_000060" "g.120107683G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186528G>A" "" "benign" ""
"0000521412" "0" "10" "4" "120107736" "120107736" "subst" "0" "02327" "MYOZ2_000061" "g.120107736C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186581C>A" "" "benign" ""
"0000521413" "0" "10" "4" "120108263" "120108263" "subst" "0" "02327" "MYOZ2_000062" "g.120108263G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119187108G>A" "" "benign" ""
"0000521414" "0" "50" "4" "120108355" "120108355" "subst" "0" "02327" "MYOZ2_000063" "g.120108355T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119187200T>C" "" "VUS" ""
"0000521415" "0" "30" "4" "120108544" "120108544" "subst" "0" "02327" "MYOZ2_000064" "g.120108544T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119187389T>G" "" "likely benign" ""
"0000521416" "0" "10" "4" "120108603" "120108603" "subst" "0" "02327" "MYOZ2_000065" "g.120108603G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119187448G>A" "" "benign" ""
"0000609038" "0" "30" "4" "120057681" "120057681" "dup" "0" "02327" "MYOZ2_000066" "g.120057681dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119136526dup" "" "likely benign" ""
"0000609039" "0" "30" "4" "120057770" "120057770" "dup" "0" "02327" "MYOZ2_000067" "g.120057770dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119136615dup" "" "likely benign" ""
"0000609040" "0" "30" "4" "120072023" "120072024" "ins" "0" "02327" "MYOZ2_000068" "g.120072023_120072024insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119150868_119150869insT" "" "likely benign" ""
"0000609041" "0" "50" "4" "120072055" "120072055" "subst" "0" "02325" "MYOZ2_000069" "g.120072055G>T" "" "" "" "MYOZ2(NM_016599.5):c.105G>T (p.K35N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119150900G>T" "" "VUS" ""
"0000609042" "0" "50" "4" "120072056" "120072057" "ins" "0" "02327" "MYOZ2_000070" "g.120072056_120072057insA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119150901_119150902insA" "" "VUS" ""
"0000609043" "0" "50" "4" "120072067" "120072067" "dup" "0" "02327" "MYOZ2_000071" "g.120072067dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119150912dup" "" "VUS" ""
"0000609044" "0" "50" "4" "120079232" "120079232" "subst" "0.000105688" "02330" "MYOZ2_000072" "g.120079232C>T" "" "" "" "MYOZ2(NM_016599.5):c.302C>T (p.S101L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119158077C>T" "" "VUS" ""
"0000609045" "0" "50" "4" "120085449" "120085449" "subst" "0" "02327" "MYOZ2_000073" "g.120085449C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119164294C>A" "" "VUS" ""
"0000609046" "0" "30" "4" "120107110" "120107110" "dup" "4.15344E-6" "02327" "MYOZ2_000074" "g.120107110dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119185955dup" "" "likely benign" ""
"0000609047" "0" "30" "4" "120107298" "120107298" "subst" "0.00227622" "02327" "MYOZ2_000002" "g.120107298A>G" "" "" "" "MYOZ2(NM_016599.5):c.738A>G (p.I246M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186143A>G" "" "likely benign" ""
"0000621344" "0" "30" "4" "120107328" "120107328" "subst" "3.25423E-5" "02326" "MYOZ2_000075" "g.120107328C>A" "" "" "" "MYOZ2(NM_016599.4):c.768C>A (p.T256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.119186173C>A" "" "likely benign" ""
"0000653060" "1" "30" "4" "120057709" "120057709" "subst" "0.0025402" "03575" "MYOZ2_000036" "g.120057709A>C" "14/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs76757102}" "Germline" "" "rs76757102" "0" "" "" "g.119136554A>C" "" "likely benign" ""
"0000677174" "0" "10" "4" "120085560" "120085560" "subst" "1.63195E-5" "02330" "MYOZ2_000076" "g.120085560G>T" "" "" "" "MYOZ2(NM_016599.5):c.560+11G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000689218" "0" "10" "4" "120057709" "120057709" "subst" "0.0025402" "02330" "MYOZ2_000036" "g.120057709A>C" "" "" "" "MYOZ2(NM_016599.4):c.29A>C (p.Q10P), MYOZ2(NM_016599.5):c.29A>C (p.Q10P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000689219" "0" "10" "4" "120079290" "120079290" "subst" "0.00255577" "02330" "MYOZ2_000027" "g.120079290A>G" "" "" "" "MYOZ2(NM_016599.4):c.360A>G (p.P120=), MYOZ2(NM_016599.5):c.360A>G (p.P120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000701371" "0" "50" "4" "120057709" "120057709" "subst" "2.03542E-5" "00006" "MYOZ2_000037" "g.120057709A>G" "1/632 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.119136554A>G" "" "VUS" ""
"0000719720" "0" "10" "4" "120057766" "120057766" "subst" "0.000118673" "02330" "MYOZ2_000041" "g.120057766A>G" "" "" "" "MYOZ2(NM_016599.5):c.76+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000801480" "0" "30" "4" "120057719" "120057719" "subst" "8.95838E-5" "02326" "MYOZ2_000038" "g.120057719G>A" "" "" "" "MYOZ2(NM_016599.4):c.39G>A (p.Q13=, p.=), MYOZ2(NM_016599.5):c.39G>A (p.Q13=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850512" "0" "50" "4" "120057678" "120057678" "subst" "0" "02325" "MYOZ2_000077" "g.120057678A>G" "" "" "" "MYOZ2(NM_016599.5):c.-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850513" "0" "50" "4" "120079278" "120079278" "subst" "0" "02325" "MYOZ2_000078" "g.120079278C>G" "" "" "" "MYOZ2(NM_016599.5):c.348C>G (p.S116R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850514" "0" "30" "4" "120107248" "120107248" "subst" "0.000284389" "01943" "MYOZ2_000054" "g.120107248C>T" "" "" "" "MYOZ2(NM_016599.4):c.688C>T (p.R230W), MYOZ2(NM_016599.5):c.688C>T (p.R230W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000859217" "0" "50" "4" "120107143" "120107143" "subst" "2.03381E-5" "02330" "MYOZ2_000079" "g.120107143T>A" "" "" "" "MYOZ2(NM_016599.5):c.583T>A (p.F195I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000912045" "0" "30" "4" "120107107" "120107108" "dup" "0" "02325" "MYOZ2_000080" "g.120107107_120107108dup" "" "" "" "MYOZ2(NM_016599.5):c.561-14_561-13dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000924047" "0" "50" "4" "120079204" "120079204" "subst" "8.12473E-6" "02330" "MYOZ2_000081" "g.120079204G>A" "" "" "" "MYOZ2(NM_016599.5):c.274G>A (p.V92M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948253" "0" "50" "4" "120057709" "120057709" "subst" "2.03542E-5" "02330" "MYOZ2_000037" "g.120057709A>G" "" "" "" "MYOZ2(NM_016599.4):c.29A>G (p.Q10R), MYOZ2(NM_016599.5):c.29A>G (p.Q10R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000948254" "0" "50" "4" "120079295" "120079297" "del" "0" "02330" "MYOZ2_000082" "g.120079295_120079297del" "" "" "" "MYOZ2(NM_016599.5):c.365_367delACA (p.N122del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000957833" "0" "70" "4" "120107309" "120107309" "subst" "8.13292E-6" "00006" "MYOZ2_000031" "g.120107309C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.119186154C>T" "" "likely pathogenic" ""
"0000957859" "0" "50" "4" "120107234" "120107234" "subst" "5.28116E-5" "00006" "MYOZ2_000033" "g.120107234C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.119186079C>T" "" "VUS" ""
"0000976088" "0" "10" "4" "120085448" "120085448" "subst" "0.0419907" "01804" "MYOZ2_000004" "g.120085448A>G" "" "" "" "MYOZ2(NM_016599.4):c.459A>G (p.E153=), MYOZ2(NM_016599.5):c.459A>G (p.E153=, p.(Glu153=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000989744" "0" "50" "4" "120072132" "120072132" "subst" "1.62563E-5" "02515" "MYOZ2_000083" "g.120072132G>A" "" "Fusco 2042, submitted" "" "" "variant not definitively linked to disease" "Germline" "" "" "0" "" "" "g.119150977G>A" "" "VUS" ""
"0000994057" "0" "10" "4" "120072049" "120072049" "subst" "0" "02330" "MYOZ2_000084" "g.120072049C>A" "" "" "" "MYOZ2(NM_016599.5):c.99C>A (p.G33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000994058" "0" "10" "4" "120107106" "120107108" "dup" "0" "02330" "MYOZ2_000085" "g.120107106_120107108dup" "" "" "" "MYOZ2(NM_016599.5):c.561-15_561-13dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000994059" "0" "10" "4" "120107108" "120107109" "ins" "0" "02330" "MYOZ2_000086" "g.120107108_120107109insTA" "" "" "" "MYOZ2(NM_016599.5):c.561-13_561-12insTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000994060" "0" "10" "4" "120107108" "120107108" "dup" "0" "02330" "MYOZ2_000024" "g.120107108dup" "" "" "" "MYOZ2(NM_016599.5):c.561-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000994061" "0" "30" "4" "120107309" "120107309" "subst" "8.13292E-6" "02325" "MYOZ2_000031" "g.120107309C>T" "" "" "" "MYOZ2(NM_016599.4):c.749C>T (p.T250I), MYOZ2(NM_016599.5):c.749C>T (p.T250I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001013932" "0" "50" "4" "120079205" "120079205" "subst" "4.06246E-6" "02330" "MYOZ2_000017" "g.120079205T>C" "" "" "" "MYOZ2(NM_016599.4):c.275T>C (p.V92A), MYOZ2(NM_016599.5):c.275T>C (p.V92A)" "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 MYOZ2
## Count = 139
"{{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}}"
"0000175174" "00014204" "70" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Leu163Ser)" "5"
"0000175193" "00014204" "90" "36" "0" "36" "0" "c.36A>C" "r.(?)" "p.(Lys12Asn)" "2"
"0000218413" "00014204" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" ""
"0000246205" "00014204" "10" "247" "-18" "247" "-18" "c.247-18A>G" "r.(=)" "p.(=)" ""
"0000246206" "00014204" "10" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(Ala79=)" ""
"0000246207" "00014204" "10" "459" "0" "459" "0" "c.459A>G" "r.(?)" "p.(Glu153=)" ""
"0000246272" "00014204" "30" "738" "0" "738" "0" "c.738A>G" "r.(?)" "p.(Ile246Met)" ""
"0000247846" "00014204" "10" "247" "-18" "247" "-18" "c.247-18A>G" "r.(=)" "p.(=)" ""
"0000247865" "00014204" "30" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(Ala79=)" ""
"0000250628" "00014204" "10" "247" "-18" "247" "-18" "c.247-18A>G" "r.(=)" "p.(=)" ""
"0000250647" "00014204" "10" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(Ala79=)" ""
"0000250701" "00014204" "10" "29" "0" "29" "0" "c.29A>C" "r.(?)" "p.(Gln10Pro)" ""
"0000251957" "00014204" "30" "29" "0" "29" "0" "c.29A>G" "r.(?)" "p.(Gln10Arg)" ""
"0000252080" "00014204" "30" "377" "-14" "377" "-14" "c.377-14A>T" "r.(=)" "p.(=)" ""
"0000252081" "00014204" "30" "561" "-12" "561" "-12" "c.561-12A>T" "r.(=)" "p.(=)" ""
"0000252980" "00014204" "10" "247" "-18" "247" "-18" "c.247-18A>G" "r.(=)" "p.(=)" ""
"0000252999" "00014204" "10" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(Ala79=)" ""
"0000253053" "00014204" "10" "29" "0" "29" "0" "c.29A>C" "r.(?)" "p.(Gln10Pro)" ""
"0000253345" "00014204" "10" "459" "0" "459" "0" "c.459A>G" "r.(?)" "p.(Glu153=)" ""
"0000253654" "00014204" "10" "360" "0" "360" "0" "c.360A>G" "r.(?)" "p.(Pro120=)" ""
"0000292885" "00014204" "50" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Leu50Phe)" ""
"0000292886" "00014204" "10" "376" "9" "376" "9" "c.376+9T>A" "r.(=)" "p.(=)" ""
"0000292887" "00014204" "10" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Gln13=)" ""
"0000292888" "00014204" "50" "407" "0" "409" "0" "c.407_409del" "r.(?)" "p.(Pro136_Glu137delinsGln)" ""
"0000292889" "00014204" "50" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Pro160Leu)" ""
"0000292890" "00014204" "30" "488" "0" "488" "0" "c.488T>C" "r.(?)" "p.(Leu163Ser)" ""
"0000292891" "00014204" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Gly238Arg)" ""
"0000292892" "00014204" "10" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Thr250=)" ""
"0000292893" "00014204" "10" "76" "19" "76" "19" "c.76+19C>T" "r.(=)" "p.(=)" ""
"0000292894" "00014204" "10" "76" "20" "76" "20" "c.76+20G>A" "r.(=)" "p.(=)" ""
"0000296255" "00014204" "30" "290" "0" "290" "0" "c.290T>C" "r.(?)" "p.(Leu97Ser)" ""
"0000296256" "00014204" "30" "377" "-5" "377" "-5" "c.377-5C>T" "r.spl?" "p.?" ""
"0000296257" "00014204" "10" "561" "-13" "561" "-13" "c.561-13dup" "r.(=)" "p.(=)" ""
"0000296258" "00014204" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Gly238Arg)" ""
"0000296259" "00014204" "30" "76" "20" "76" "20" "c.76+20G>A" "r.(=)" "p.(=)" ""
"0000296260" "00014204" "30" "76" "8" "76" "8" "c.76+8T>C" "r.(=)" "p.(=)" ""
"0000299880" "00014204" "30" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Val92Ala)" ""
"0000299881" "00014204" "30" "377" "-5" "377" "-5" "c.377-5C>T" "r.spl?" "p.?" ""
"0000299882" "00014204" "50" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Pro160Leu)" ""
"0000299883" "00014204" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Gly238Arg)" ""
"0000299884" "00014204" "10" "77" "-21" "77" "-21" "c.77-21C>T" "r.(=)" "p.(=)" ""
"0000302785" "00014204" "50" "-3" "0" "-3" "0" "c.-3dup" "r.(?)" "p.(=)" ""
"0000302786" "00014204" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" ""
"0000302787" "00014204" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Gln13=)" ""
"0000302788" "00014204" "50" "479" "0" "479" "0" "c.479C>T" "r.(?)" "p.(Pro160Leu)" ""
"0000302789" "00014204" "30" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" ""
"0000302790" "00014204" "10" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Thr250=)" ""
"0000302791" "00014204" "10" "76" "19" "76" "19" "c.76+19C>T" "r.(=)" "p.(=)" ""
"0000442913" "00014204" "90" "142" "0" "142" "0" "c.142T>C" "r.(?)" "p.(Ser48Pro)" "3"
"0000442914" "00014204" "70" "738" "0" "738" "0" "c.738A>G" "r.(?)" "p.(Ile246Met)" "6"
"0000442915" "00014204" "30" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(=)" "3"
"0000442916" "00014204" "30" "247" "-18" "247" "-18" "c.247-18A>G" "r.(=)" "p.(=)" "3i"
"0000442917" "00014204" "30" "459" "0" "459" "0" "c.459A>G" "r.(?)" "p.(=)" "5"
"0000442918" "00014204" "50" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(=)" "3"
"0000442919" "00014204" "50" "459" "0" "459" "0" "c.459A>G" "r.(?)" "p.(=)" "5"
"0000442920" "00014204" "30" "-87" "0" "-87" "0" "c.-87A>G" "r.(?)" "p.(=)" "1"
"0000442921" "00014204" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "1"
"0000442922" "00014204" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "1i"
"0000442923" "00014204" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "1i"
"0000442924" "00014204" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "2i"
"0000442925" "00014204" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "3"
"0000442926" "00014204" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "3i"
"0000442927" "00014204" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "4i"
"0000442928" "00014204" "30" "459" "0" "459" "0" "c.459A>G" "r.(?)" "p.(=)" "5"
"0000442929" "00014204" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "6"
"0000442933" "00014204" "90" "142" "0" "142" "0" "c.142T>C" "r.(?)" "p.(Ser48Pro)" "3"
"0000442934" "00014204" "90" "738" "0" "738" "0" "c.738A>G" "r.(?)" "p.(Ile246Met)" "6"
"0000521378" "00014204" "10" "-3" "0" "-3" "0" "c.-3dup" "r.(?)" "p.(=)" ""
"0000521380" "00014204" "50" "29" "0" "29" "0" "c.29A>G" "r.(?)" "p.(Gln10Arg)" ""
"0000521381" "00014204" "30" "29" "0" "29" "0" "c.29A>G" "r.(?)" "p.(Gln10Arg)" ""
"0000521382" "00014204" "30" "76" "10" "76" "10" "c.76+10A>G" "r.(=)" "p.(=)" ""
"0000521384" "00014204" "30" "76" "19" "76" "19" "c.76+19C>T" "r.(=)" "p.(=)" ""
"0000521385" "00014204" "30" "76" "20" "76" "20" "c.76+20G>A" "r.(=)" "p.(=)" ""
"0000521386" "00014204" "10" "123" "0" "123" "0" "c.123C>T" "r.(?)" "p.(Asp41=)" ""
"0000521387" "00014204" "50" "148" "0" "148" "0" "c.148C>T" "r.(?)" "p.(Leu50Phe)" ""
"0000521388" "00014204" "10" "237" "0" "237" "0" "c.237A>G" "r.(?)" "p.(Ala79=)" ""
"0000521389" "00014204" "10" "246" "37" "246" "37" "c.246+37G>C" "r.(=)" "p.(=)" ""
"0000521390" "00014204" "10" "247" "-18" "247" "-18" "c.247-18A>G" "r.(=)" "p.(=)" ""
"0000521391" "00014204" "30" "297" "0" "297" "0" "c.297T>G" "r.(?)" "p.(Gly99=)" ""
"0000521392" "00014204" "30" "303" "0" "303" "0" "c.303G>A" "r.(?)" "p.(Ser101=)" ""
"0000521393" "00014204" "10" "377" "-12" "377" "-12" "c.377-12A>G" "r.(=)" "p.(=)" ""
"0000521394" "00014204" "50" "447" "0" "447" "0" "c.447A>T" "r.(?)" "p.(Gln149His)" ""
"0000521395" "00014204" "10" "561" "-13" "561" "-13" "c.561-13T>A" "r.(=)" "p.(=)" ""
"0000521396" "00014204" "30" "561" "-13" "561" "-13" "c.561-13T>A" "r.(=)" "p.(=)" ""
"0000521397" "00014204" "30" "561" "-13" "561" "-13" "c.561-13del" "r.(=)" "p.(=)" ""
"0000521399" "00014204" "30" "561" "-6" "561" "-6" "c.561-6C>T" "r.(=)" "p.(=)" ""
"0000521400" "00014204" "50" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Ala189Val)" ""
"0000521401" "00014204" "30" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Trp)" ""
"0000521402" "00014204" "30" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Trp)" ""
"0000521403" "00014204" "50" "712" "0" "712" "0" "c.712G>A" "r.(?)" "p.(Gly238Arg)" ""
"0000521404" "00014204" "50" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" ""
"0000521405" "00014204" "10" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Thr250=)" ""
"0000521406" "00014204" "50" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Glu251Lys)" ""
"0000521407" "00014204" "50" "776" "0" "776" "0" "c.776del" "r.(?)" "p.(Pro259GlnfsTer15)" ""
"0000521408" "00014204" "30" "878" "0" "878" "0" "c.*83A>G" "r.(=)" "p.(=)" ""
"0000521409" "00014204" "10" "962" "0" "962" "0" "c.*167C>T" "r.(=)" "p.(=)" ""
"0000521410" "00014204" "30" "1016" "0" "1016" "0" "c.*221T>G" "r.(=)" "p.(=)" ""
"0000521411" "00014204" "10" "1123" "0" "1123" "0" "c.*328G>A" "r.(=)" "p.(=)" ""
"0000521412" "00014204" "10" "1176" "0" "1176" "0" "c.*381C>A" "r.(=)" "p.(=)" ""
"0000521413" "00014204" "10" "1703" "0" "1703" "0" "c.*908G>A" "r.(=)" "p.(=)" ""
"0000521414" "00014204" "50" "1795" "0" "1795" "0" "c.*1000T>C" "r.(=)" "p.(=)" ""
"0000521415" "00014204" "30" "1984" "0" "1984" "0" "c.*1189T>G" "r.(=)" "p.(=)" ""
"0000521416" "00014204" "10" "2043" "0" "2043" "0" "c.*1248G>A" "r.(=)" "p.(=)" ""
"0000609038" "00014204" "30" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" ""
"0000609039" "00014204" "30" "76" "14" "76" "14" "c.76+14dup" "r.(=)" "p.(=)" ""
"0000609040" "00014204" "30" "77" "-4" "77" "-3" "c.77-4_77-3insT" "r.spl?" "p.?" ""
"0000609041" "00014204" "50" "105" "0" "105" "0" "c.105G>T" "r.(?)" "p.(Lys35Asn)" ""
"0000609042" "00014204" "50" "106" "0" "107" "0" "c.106_107insA" "r.(?)" "p.(Val36AspfsTer17)" ""
"0000609043" "00014204" "50" "117" "0" "117" "0" "c.117dup" "r.(?)" "p.(Arg40GlnfsTer13)" ""
"0000609044" "00014204" "50" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ser101Leu)" ""
"0000609045" "00014204" "50" "460" "0" "460" "0" "c.460C>A" "r.(?)" "p.(Gln154Lys)" ""
"0000609046" "00014204" "30" "561" "-11" "561" "-11" "c.561-11dup" "r.(=)" "p.(=)" ""
"0000609047" "00014204" "30" "738" "0" "738" "0" "c.738A>G" "r.(?)" "p.(Ile246Met)" ""
"0000621344" "00014204" "30" "768" "0" "768" "0" "c.768C>A" "r.(?)" "p.(Thr256=)" ""
"0000653060" "00014204" "30" "29" "0" "29" "0" "c.29A>C" "r.(?)" "p.(Gln10Pro)" ""
"0000677174" "00014204" "10" "560" "11" "560" "11" "c.560+11G>T" "r.(=)" "p.(=)" ""
"0000689218" "00014204" "10" "29" "0" "29" "0" "c.29A>C" "r.(?)" "p.(Gln10Pro)" ""
"0000689219" "00014204" "10" "360" "0" "360" "0" "c.360A>G" "r.(?)" "p.(Pro120=)" ""
"0000701371" "00014204" "50" "29" "0" "29" "0" "c.29A>G" "r.(?)" "p.(Gln10Arg)" ""
"0000719720" "00014204" "10" "76" "10" "76" "10" "c.76+10A>G" "r.(=)" "p.(=)" ""
"0000801480" "00014204" "30" "39" "0" "39" "0" "c.39G>A" "r.(?)" "p.(Gln13=)" ""
"0000850512" "00014204" "50" "-3" "0" "-3" "0" "c.-3A>G" "r.(?)" "p.(=)" ""
"0000850513" "00014204" "50" "348" "0" "348" "0" "c.348C>G" "r.(?)" "p.(Ser116Arg)" ""
"0000850514" "00014204" "30" "688" "0" "688" "0" "c.688C>T" "r.(?)" "p.(Arg230Trp)" ""
"0000859217" "00014204" "50" "583" "0" "583" "0" "c.583T>A" "r.(?)" "p.(Phe195Ile)" ""
"0000912045" "00014204" "30" "561" "-14" "561" "-13" "c.561-14_561-13dup" "r.(=)" "p.(=)" ""
"0000924047" "00014204" "50" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Met)" ""
"0000948253" "00014204" "50" "29" "0" "29" "0" "c.29A>G" "r.(?)" "p.(Gln10Arg)" ""
"0000948254" "00014204" "50" "365" "0" "367" "0" "c.365_367del" "r.(?)" "p.(Asn122del)" ""
"0000957833" "00014204" "70" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" ""
"0000957859" "00014204" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Pro225Leu)" ""
"0000976088" "00014204" "10" "459" "0" "459" "0" "c.459A>G" "r.(?)" "p.(Glu153=)" ""
"0000989744" "00014204" "50" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61His)" ""
"0000994057" "00014204" "10" "99" "0" "99" "0" "c.99C>A" "r.(?)" "p.(=)" ""
"0000994058" "00014204" "10" "561" "-15" "561" "-13" "c.561-15_561-13dup" "r.(=)" "p.(=)" ""
"0000994059" "00014204" "10" "561" "-13" "561" "-12" "c.561-13_561-12insTA" "r.(=)" "p.(=)" ""
"0000994060" "00014204" "10" "561" "-13" "561" "-13" "c.561-13dup" "r.(=)" "p.(=)" ""
"0000994061" "00014204" "30" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" ""
"0001013932" "00014204" "50" "275" "0" "275" "0" "c.275T>C" "r.(?)" "p.(Val92Ala)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 27
"{{screeningid}}" "{{variantid}}"
"0000109092" "0000175193"
"0000109105" "0000175174"
"0000129264" "0000218413"
"0000211424" "0000442913"
"0000211425" "0000442914"
"0000211426" "0000442915"
"0000211427" "0000442916"
"0000211428" "0000442917"
"0000211429" "0000442918"
"0000211430" "0000442919"
"0000211431" "0000442920"
"0000211432" "0000442921"
"0000211433" "0000442922"
"0000211434" "0000442923"
"0000211435" "0000442924"
"0000211436" "0000442925"
"0000211437" "0000442926"
"0000211438" "0000442927"
"0000211439" "0000442928"
"0000211440" "0000442929"
"0000211444" "0000442933"
"0000211445" "0000442934"
"0000296371" "0000653060"
"0000318765" "0000701371"
"0000448426" "0000957833"
"0000448452" "0000957859"
"0000454843" "0000989744"