### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MUSK) # 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}}" "MUSK" "muscle, skeletal, receptor tyrosine kinase" "9" "q31.3-q32" "no" "NG_016016.1" "UD_132118937021" "" "https://www.LOVD.nl/MUSK" "" "1" "7525" "4593" "601296" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/MUSK_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2011-02-01 00:00:00" "00006" "2017-12-08 11:09:48" "00000" "2025-11-01 13:22:20" ## 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}}" "00025237" "MUSK" "transcript variant 1" "005" "NM_005592.3" "" "NP_005583.1" "" "" "" "-134" "2620" "2610" "113431051" "113563278" "00006" "2017-11-03 13:24:01" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "01666" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-10-27 12:54:08" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "04583" "CMS9" "myasthenic syndrome, congenital, type 9, associated with acetylcholine receptor deficiency (CMS-9)" "AR" "616325" "" "autosomal recessive" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" "05866" "FADS1" "akinesia, fetal, deformation sequence, type 1 (FADS1)" "AR" "208150" "" "" "" "00006" "2020-10-27 12:54:18" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MUSK" "01666" "MUSK" "04583" "MUSK" "05866" ## Individuals ## Do not remove or alter this header ## ## Count = 31 "{{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}}" "00036291" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036292" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036293" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036294" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00132656" "" "" "" "1" "" "01802" "Owen, submitted" "" "M" "?" "India" "" "0" "" "" "Labbay sect" "Case 1" "00132658" "" "" "" "1" "" "01802" "Owen, submitted" "" "M" "no" "India" "" "0" "" "" "" "Case 2" "00143809" "" "" "" "1" "" "02340" "" "" "F" "yes" "" "" "0" "" "" "" "" "00143817" "" "" "" "5" "" "00006" "{PMID:Wilbe 2015:25612909}, {DOI:Wilbe 2015:10.1136/jmedgenet-2014-102730}" "2-generation family, five affected children/fetuses, unaffected heterozygous carrier parents" "" "no" "Sweden" "" "0" "" "" "" "" "00143818" "" "" "" "2" "" "00006" "{PMID:Gallenmuler 2014:24183479}, {DOI:Gallenmuler 2014:10.1016/j.nmd.2013.08.002}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "" "00143819" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00143820" "" "" "" "1" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00143821" "" "" "" "2" "" "00006" "{PMID:Chevessier 2004:15496425}" "" "F" "no" "(France)" ">27y" "0" "" "" "" "" "00143822" "" "" "" "1" "" "00006" "{PMID:Chevessier 2004:15496425}" "deceased older brother 15496425-Pat2" "M" "no" "(France)" "1y6m" "0" "" "" "" "" "00143823" "" "" "" "60" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00143824" "" "" "" "1" "" "00464" "" "" "F" "" "Italy" "" "0" "" "" "" "" "00143825" "" "" "" "2" "" "00006" "{PMID:Maggi 2015:24122059}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "" "no" "Italy" "" "0" "" "" "" "" "00143826" "" "" "" "54" "" "00006" "" "" "" "" "" "" "0" "" "" "" "" "00143827" "" "" "" "6" "" "00006" "{PMID:Mihaylova 2009:19949040}" "2-generation family, 5 affecteds (3M, 2F), fatherand maternal grandmother first-degree cousins" "-" "" "Sudan" "" "0" "" "" "" "" "00143828" "" "" "" "14" "" "00006" "{PMID:Tan Sindhunata 2015:25537362}, {DOI:Tan Sindhunata 2015:10.1038/ejhg.2014.273}" "12-generation family, 14 affecteds (7F, 7M), unaffected heterozygous carrier parents" "" "" "Netherlands" "" "0" "" "" "" "" "00143829" "" "" "" "1" "" "01540" "" "" "" "yes" "Netherlands" "" "0" "" "" "Dutch" "" "00143830" "" "" "" "1" "" "00006" "{PMID:Maselli 2010:20371544}, {DOI:Maselli 2010:10.1093/hmg/ddq110}" "2-generation family, patient and unaffected heterozygous carrier parents/sib" "F" "no" "United States" "" "0" "" "" "" "" "00143831" "" "" "" "1" "" "00511" "" "" "F" "" "France" "" "0" "" "" "" "" "00143832" "" "" "" "1" "" "00006" "{PMID:Ben Ammar 2013:23326516}, {DOI:Ben Ammar 2013:10.1371/journal.pone.0053826}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Iran" "" "0" "" "" "" "" "00204188" "" "" "" "1" "" "02957" "" "" "M" "no" "Spain" ">50y" "0" "" "3,4-diaminopyridine and ephedrine" "" "" "00294718" "" "" "" "66" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294719" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294720" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305216" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374115" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" "" "00374407" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4525" "00406650" "" "" "" "1" "" "04292" "" "" "F" "" "" "" "" "" "" "" "20" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00132656" "04583" "00132658" "04583" "00143809" "01666" "00143817" "00198" "00143818" "00198" "00143819" "00198" "00143820" "00198" "00143821" "00198" "00143822" "00198" "00143823" "00198" "00143824" "00198" "00143825" "00198" "00143826" "00198" "00143827" "00198" "00143828" "00198" "00143829" "00198" "00143830" "00198" "00143831" "00198" "00143832" "00198" "00204188" "04312" "00294718" "00198" "00294719" "00198" "00294720" "00198" "00305216" "00198" "00374115" "00198" "00374407" "00198" "00406650" "04583" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01666, 04312, 04583, 05866 ## Count = 22 "{{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}}" "0000105422" "04583" "00132656" "01802" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105423" "04583" "00132658" "01802" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116594" "01666" "00143809" "02340" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116595" "00198" "00143817" "00006" "Familial, autosomal recessive" "" "see paper; lethal; ultra-sound fetal akinesia, joint contractions; facial dysmorphism, pterygia (1 fetus), distal muscle hypoplasia, hydrops, pulmonary hypoplasia; autopsy confirmed muscle atrophy and multiple joint contraction" "" "" "" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence syndrome (FADS)" "" "0000116596" "00198" "00143818" "00006" "Isolated (sporadic)" "" "see paper; fatigable limb weakness from early childhood on, ..." "" "" "" "" "" "" "" "" "CMS-9" "limb-girdle congenital myasthenic syndromes (CMS)" "" "0000116597" "00198" "00143819" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-9" "myasthenic syndrome, congenital" "" "0000116598" "00198" "00143820" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-9" "myasthenic syndrome, congenital" "" "0000116599" "00198" "00143821" "00006" "Isolated (sporadic)" "" "onset neonatal; 45d-tracheostomy, respiratory distress episodes 6m/8m; 6y-surgical treatment left ptosis; childhood/adolescence favorable course, clinical symptoms improved, no further severe respiratory episodes, slight eyelid ptosis, fatigability on walking, inability sport activities; 22y3m pregnancy suffered aggravating symptoms generalized weakness superior/inferior limb muscles (falls), masticatory difficulties, swallowing disturbances, nasal voice" "" "22y" "ptosis, respiratory distress" "test AChR/MuSK antibodies serum negative" "" "" "" "" "CMS-9" "myasthenic syndrome, congenital" "" "0000116600" "00198" "00143822" "00006" "Isolated (sporadic)" "" "neonatal hypotonia, respiratory failure, vocal cord paralysis, required tracheostomy; 1.5y-died" "" "" "" "" "" "" "" "" "CMS-9" "myasthenic syndrome, congenital" "" "0000116601" "00198" "00143823" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-9" "myasthenic syndrome, congenital" "" "0000116602" "00198" "00143824" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CMS-9" "myasthenic syndrome, congenital (CMS)" "" "0000116603" "00198" "00143825" "00006" "Familial, autosomal recessive" "" "see paper; variable phenotype" "" "" "" "" "" "" "" "" "CMS-9" "congenital myasthenic syndromes (CMS)" "" "0000116604" "00198" "00143826" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMS-9" "myasthenic syndrome, congenital" "" "0000116605" "00198" "00143827" "00006" "Isolated (sporadic)" "" "1–3y ptosis, fatigability (walking long distance) pronounced in evening; exercise-induced weakness deltoid muscle, 4/5 ophthalmoparesis, 2/5 modified Gowers sign/waddling gait or pronounced lordosis" "" "" "" "" "" "" "" "" "CMS-9" "myasthenic syndrome, congenital" "" "0000116606" "00198" "00143828" "00006" "Familial, autosomal recessive" "" "see paper; lethal FADS, ..." "" "" "" "" "" "" "" "" "FADS" "fetal akinesia deformation sequence (FADS)" "" "0000116607" "00198" "00143829" "01540" "Familial, autosomal recessive" "" "fetal akinesia" "" "" "" "" "" "" "" "" "FADS" "akinesia, fetal, deformation sequence (FADS)" "" "0000116608" "00198" "00143830" "00006" "Isolated (sporadic)" "" "see paper; severe congenital myasthenic syndrome" "" "" "" "" "" "" "" "" "CMS-9" "congenital myasthenic syndrome (CMS)" "" "0000116609" "00198" "00143831" "00511" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116610" "00198" "00143832" "00006" "Isolated (sporadic)" "" "see paper; congenital bilateral ptosis, slowly progressive muscle weakness, walk 14m, particularly lower limbs (observed since 4y); no sucking problems during infancy, ..." "" "" "" "" "" "" "" "" "CMS-9" "congenital myasthenic syndromes (CMS)" "" "0000152866" "04312" "00204188" "02957" "Unknown" "51y" "Congenital ophthalmoplegia and late-onset limb weakness" "" "51y" "External ophtalmoplegia" "" "" "" "" "" "CMS9" "congenital myasthenic syndrome" "" "0000269326" "00198" "00374115" "00006" "Familial, autosomal recessive" "<0d" "38w-fetus, ultrasound Fetal akinesia; autopsy Hypertelorism, bilateral clubfeet, lung hypoplasia" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000269617" "00198" "00374407" "00006" "Familial, autosomal recessive" "" "Bilateral lower limb weakness since thirteen years of age, upper limb weakness since eighteen years of age, slow extra-ocular movement and bilateral restricted abduction" "" "" "" "" "" "" "" "" "" "myasthenic syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 31 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036361" "00036291" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036362" "00036292" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036363" "00036293" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036364" "00036294" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000133490" "00132656" "1" "01802" "01802" "2017-11-02 17:43:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000133491" "00132658" "1" "01802" "01802" "2017-11-02 18:08:05" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000144668" "00143809" "1" "02340" "02340" "2017-12-07 12:33:38" "" "" "SEQ-NG-I" "DNA" "" "" "0000144676" "00143817" "1" "00006" "00006" "2015-03-09 23:38:42" "00006" "2015-03-09 23:42:19" "SEQ;SEQ-NG" "DNA" "" "" "0000144677" "00143818" "1" "00006" "00006" "2015-03-10 00:03:07" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000144678" "00143819" "1" "00006" "00006" "2011-02-13 09:54:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000144679" "00143820" "1" "00006" "00006" "2011-02-13 09:54:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000144680" "00143821" "1" "00006" "00006" "2011-02-13 09:54:08" "00006" "2012-03-09 18:55:42" "SEQ" "DNA" "" "" "0000144681" "00143822" "1" "00006" "00006" "2011-02-13 09:54:08" "00006" "2012-03-09 18:55:42" "SEQ" "DNA" "" "" "0000144682" "00143823" "1" "00006" "00006" "2011-02-13 09:54:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000144683" "00143824" "1" "00464" "00464" "2012-07-03 22:10:33" "00006" "2012-07-06 17:49:53" "PCR;SEQ" "DNA" "" "" "0000144684" "00143825" "1" "00006" "00006" "2015-03-10 19:24:08" "00006" "2015-03-10 19:37:18" "SEQ" "DNA" "" "" "0000144685" "00143826" "1" "00006" "00006" "2011-02-13 09:54:08" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000144686" "00143827" "1" "00006" "00006" "2011-02-13 11:05:09" "00006" "2012-03-09 19:02:29" "SEQ" "DNA" "" "" "0000144687" "00143828" "1" "00006" "00006" "2015-03-10 19:44:20" "" "" "SEQ" "DNA" "" "" "0000144688" "00143829" "1" "01540" "01540" "2014-10-06 17:15:50" "00006" "2015-03-10 00:36:32" "SEQ" "DNA" "" "" "0000144689" "00143830" "1" "00006" "00006" "2015-03-10 00:23:11" "00006" "2015-03-10 00:23:58" "SEQ" "DNA" "" "" "0000144690" "00143831" "1" "00511" "00511" "2012-07-06 12:07:25" "" "" "SEQ" "DNA" "" "" "0000144691" "00143832" "1" "00006" "00006" "2015-03-10 19:34:30" "" "" "SEQ" "DNA" "" "" "0000205217" "00204188" "1" "02957" "02957" "2018-11-04 11:59:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000295886" "00294718" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295887" "00294719" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295888" "00294720" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306345" "00305216" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375308" "00374115" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000375601" "00374407" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000407897" "00406650" "1" "04292" "04292" "2022-04-03 14:43:09" "00006" "2022-04-04 13:55:18" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000036361" "MUSK" "0000036362" "MUSK" "0000036363" "MUSK" "0000036364" "MUSK" "0000144676" "MUSK" "0000144677" "MUSK" "0000144678" "MUSK" "0000144679" "MUSK" "0000144680" "MUSK" "0000144681" "MUSK" "0000144682" "MUSK" "0000144683" "MUSK" "0000144684" "MUSK" "0000144685" "MUSK" "0000144686" "MUSK" "0000144687" "MUSK" "0000144688" "MUSK" "0000144689" "MUSK" "0000144690" "MUSK" "0000144691" "MUSK" "0000205217" "AGRN" "0000205217" "CHAT" "0000205217" "CHRNA1" "0000205217" "CHRNB1" "0000205217" "CHRND" "0000205217" "CHRNE" "0000205217" "CHRNG" "0000205217" "COLQ" "0000205217" "DOK7" "0000205217" "GFPT1" "0000205217" "MUSK" "0000205217" "RAPSN" "0000205217" "SCN4A" "0000375308" "MUSK" "0000375601" "MUSK" ## 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 = 86 "{{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}}" "0000063486" "1" "10" "9" "113457726" "113457726" "subst" "0.158464" "01164" "MUSK_000005" "g.113457726G>A" "frequency up to 0,31%" "" "" "" "" "Germline" "" "rs10980531" "0" "" "" "g.110695446G>A" "" "benign" "" "0000063487" "1" "10" "9" "113490925" "113490925" "subst" "0.229614" "01164" "MUSK_000021" "g.113490925G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110728645G>A" "" "benign" "" "0000063488" "1" "10" "9" "113449415" "113449415" "subst" "0.00518582" "01164" "MUSK_000023" "g.113449415C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110687135C>T" "" "benign" "" "0000063489" "1" "10" "9" "113562599" "113562599" "subst" "0.000254555" "01164" "MUSK_000022" "g.113562599C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110800319C>T" "" "benign" "" "0000222714" "3" "70" "9" "113547962" "113547962" "subst" "0" "01802" "MUSK_000017" "g.113547962T>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.110785682T>A" "" "likely pathogenic" "" "0000222715" "11" "70" "9" "113547854" "113547854" "subst" "2.03293E-5" "01802" "MUSK_000018" "g.113547854T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.110785574T>C" "" "likely pathogenic" "" "0000235494" "3" "90" "9" "113449414" "113449414" "subst" "0" "02340" "MUSK_000024" "g.113449414A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110687134A>C" "" "pathogenic" "" "0000235502" "3" "90" "9" "113431224" "113431224" "dup" "0" "00006" "MUSK_000011" "g.113431224dup" "" "{PMID:Wilbe 2015:25612909}, {DOI:Wilbe 2015:10.1136/jmedgenet-2014-102730}" "" "" "whole exome sequencing, no NMD; parents share 4.0 Mb haplotype" "Germline" "" "" "0" "" "" "g.110668944dup" "" "pathogenic" "" "0000235503" "10" "90" "9" "0" "0" "" "0" "00006" "MUSK_000013" "g.?" "" "{PMID:Gallenmuler 2014:24183479}, {DOI:Gallenmuler 2014:10.1016/j.nmd.2013.08.002}" "" "" "deletion detected on RNA" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000235504" "21" "90" "9" "113444988" "113444988" "subst" "1.62612E-5" "00006" "MUSK_000012" "g.113444988T>A" "" "{PMID:Gallenmuler 2014:24183479}, {DOI:Gallenmuler 2014:10.1016/j.nmd.2013.08.002}" "" "" "" "Germline" "" "" "0" "" "" "g.110682708T>A" "" "pathogenic" "" "0000235505" "0" "10" "9" "113445108" "113445108" "subst" "0.0882592" "00006" "MUSK_000003" "g.113445108A>T" "" "{PMID:Chevessier 2004:15496425}" "" "IVS2+28A>T" "" "Germline" "" "" "0" "" "" "g.110682828A>T" "" "benign" "" "0000235506" "0" "10" "9" "0" "0" "" "0" "00006" "MUSK_000004" "g.?" "" "{PMID:Chevessier 2004:15496425}" "" "IVS3-20T>C" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000235507" "11" "90" "9" "113449410" "113449410" "dup" "0" "00006" "MUSK_000001" "g.113449410dup" "" "{PMID:Chevessier 2004:15496425}, {OMIM601296:0002}" "" "220insC" "no variants CHRNE, RAPSN; not in 200 control chromosomes; father unaffected carrier" "Germline" "" "" "0" "" "" "g.110687130dup" "" "pathogenic" "" "0000235508" "11" "90" "9" "113449410" "113449410" "dup" "0" "00006" "MUSK_000001" "g.113449410dup" "" "{PMID:Chevessier 2004:15496425}, {OMIM601296:0002}" "" "220insC" "no variants CHRNE, RAPSN; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.110687130dup" "" "pathogenic" "" "0000235509" "0" "10" "9" "113457726" "113457726" "subst" "0.158464" "00006" "MUSK_000005" "g.113457726G>A" "60/200" "{PMID:Chevessier 2004:15496425}" "" "G>A (E134)" "" "Germline" "" "" "0" "" "" "g.110695446G>A" "" "benign" "" "0000235510" "11" "70" "9" "113457791" "113457791" "del" "0" "00464" "MUSK_000008" "g.113457791del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110695511del" "" "likely pathogenic" "" "0000235511" "11" "90" "9" "113457791" "113457791" "del" "0" "00006" "MUSK_000008" "g.113457791del" "" "{PMID:Maggi 2015:24122059}" "" "" "" "Germline" "" "" "0" "" "" "g.110695511del" "" "pathogenic" "" "0000235512" "0" "10" "9" "113459655" "113459655" "subst" "0.16135" "00006" "MUSK_000006" "g.113459655C>T" "54/200" "{PMID:Chevessier 2004:15496425}" "" "C>T (N179)" "" "Germline" "" "" "0" "" "" "g.110697375C>T" "" "benign" "" "0000235513" "11" "90" "9" "113530210" "113530210" "subst" "0" "00006" "MUSK_000007" "g.113530210C>G" "" "{PMID:Mihaylova 2009:19949040}" "" "" "no variants DOK7, COLQ; linkage LOD >3.0; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.110767930C>G" "" "pathogenic" "" "0000235514" "21" "90" "9" "113530210" "113530210" "subst" "0" "00006" "MUSK_000007" "g.113530210C>G" "" "{PMID:Mihaylova 2009:19949040}" "" "" "no variants DOK7, COLQ; linkage LOD >3.0; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.110767930C>G" "" "pathogenic" "" "0000235515" "3" "90" "9" "113547944" "113547944" "subst" "1.62635E-5" "00006" "MUSK_000010" "g.113547944T>C" "" "{PMID:Tan Sindhunata 2015:25537362}, {DOI:Tan Sindhunata 2015:10.1038/ejhg.2014.273}" "" "" "homozygosity mapping" "Germline" "" "" "0" "" "" "g.110785664T>C" "" "pathogenic" "" "0000235516" "3" "90" "9" "113547944" "113547944" "subst" "1.62635E-5" "01540" "MUSK_000010" "g.113547944T>C" "" "{PMID:Tan Sindhunata 2015:25537362}, {DOI:Tan Sindhunata 2015:10.1038/ejhg.2014.273}" "" "g.113547944T>C" "" "Germline" "" "" "0" "" "" "g.110785664T>C" "" "pathogenic" "" "0000235517" "21" "90" "9" "113550006" "113550006" "subst" "4.06303E-6" "00006" "MUSK_000015" "g.113550006G>A" "" "{PMID:Maselli 2010:20371544}, {DOI:Maselli 2010:10.1093/hmg/ddq110}" "SfcI+" "M605I" "" "Germline" "" "" "0" "" "" "g.110787726G>A" "" "pathogenic" "" "0000235518" "0" "50" "9" "113562660" "113562660" "subst" "1.21916E-5" "00511" "MUSK_000009" "g.113562660C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.110800380C>T" "" "VUS" "" "0000235519" "11" "90" "9" "113562838" "113562838" "subst" "0" "00006" "MUSK_000014" "g.113562838C>T" "" "{PMID:Maselli 2010:20371544}, {DOI:Maselli 2010:10.1093/hmg/ddq110}" "" "A727V" "" "Germline" "" "" "0" "" "" "g.110800558C>T" "" "pathogenic" "" "0000235520" "21" "90" "9" "113563026" "113563026" "subst" "0.00023564" "00006" "MUSK_000002" "g.113563026G>A" "" "{PMID:Chevessier 2004:15496425}, {OMIM601296:0001}" "" "" "no variants CHRNE, RAPSN; not in 200 control chromosomes; mother and brother unaffected carrier" "Germline" "" "" "0" "" "" "g.110800746G>A" "" "pathogenic" "" "0000235521" "21" "90" "9" "113563026" "113563026" "subst" "0.00023564" "00006" "MUSK_000002" "g.113563026G>A" "" "{PMID:Chevessier 2004:15496425}, {OMIM601296:0001}" "" "" "no variants CHRNE, RAPSN; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.110800746G>A" "" "pathogenic" "" "0000235522" "21" "90" "9" "113563026" "113563026" "subst" "0.00023564" "00464" "MUSK_000002" "g.113563026G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.110800746G>A" "" "pathogenic" "" "0000235523" "21" "90" "9" "113563026" "113563026" "subst" "0.00023564" "00006" "MUSK_000002" "g.113563026G>A" "" "{PMID:Maggi 2015:24122059}" "" "" "" "Germline" "" "" "0" "" "" "g.110800746G>A" "" "pathogenic" "" "0000235524" "3" "90" "9" "113563161" "113563161" "subst" "0" "00006" "MUSK_000016" "g.113563161A>G" "" "{PMID:Ben Ammar 2013:23326516}, {DOI:Ben Ammar 2013:10.1371/journal.pone.0053826}" "" "" "not in 400 control chromosomes" "Germline" "" "" "0" "" "" "g.110800881A>G" "" "pathogenic" "" "0000235525" "0" "90" "9" "113449410" "113449410" "dup" "0" "00006" "MUSK_000001" "g.113449410dup" "" "{PMID:Chevessier 2004:15496425}, {OMIM601296:0002}" "" "" "expression cloning in rat MUSK; absence MUSK expression" "In vitro (cloned)" "" "" "0" "" "" "g.110687130dup" "" "NA" "" "0000235526" "0" "90" "9" "113563026" "113563026" "subst" "0.00023564" "00006" "MUSK_000002" "g.113563026G>A" "" "{PMID:Chevessier 2004:15496425}, {OMIM601296:0001}" "" "" "expression cloning in rat MUSK; MuSK catalytic kinase activity unaffected, reduced expression/stability MuSK with decreased agrin-dependent AChR aggregation" "In vitro (cloned)" "" "" "0" "" "" "g.110800746G>A" "" "NA" "" "0000251951" "0" "30" "9" "113562649" "113562649" "subst" "0.00831301" "02326" "MUSK_000031" "g.113562649A>G" "" "" "" "MUSK(NM_001166280.1):c.1733A>G (p.(Asn578Ser)), MUSK(NM_005592.4):c.1991A>G (p.N664S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110800369A>G" "" "likely benign" "" "0000282690" "0" "10" "9" "113538122" "113538122" "subst" "0.119707" "02325" "MUSK_000029" "g.113538122G>A" "" "" "" "MUSK(NM_005592.4):c.1239G>A (p.M413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110775842G>A" "" "benign" "" "0000282691" "0" "10" "9" "113550168" "113550168" "subst" "0.424975" "02325" "MUSK_000030" "g.113550168T>C" "" "" "" "MUSK(NM_005592.4):c.1927+50T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110787888T>C" "" "benign" "" "0000282692" "0" "10" "9" "113459655" "113459655" "subst" "0.16135" "02325" "MUSK_000006" "g.113459655C>T" "" "" "" "MUSK(NM_005592.4):c.537C>T (p.N179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110697375C>T" "" "benign" "" "0000283750" "0" "90" "9" "113547944" "113547944" "subst" "1.62635E-5" "02329" "MUSK_000010" "g.113547944T>C" "" "" "" "MUSK(NM_005592.4):c.1724T>C (p.I575T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110785664T>C" "" "pathogenic" "" "0000283751" "0" "70" "9" "113449410" "113449410" "subst" "4.07505E-6" "02329" "MUSK_000025" "g.113449410C>T" "" "" "" "MUSK(NM_005592.4):c.220C>T (p.R74W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110687130C>T" "" "likely pathogenic" "" "0000283752" "0" "50" "9" "113449510" "113449510" "subst" "0.0035544" "02329" "MUSK_000027" "g.113449510G>A" "" "" "" "MUSK(NM_005592.4):c.320G>A (p.G107E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110687230G>A" "" "VUS" "" "0000286711" "0" "10" "9" "113449489" "113449489" "subst" "0.0230941" "02326" "MUSK_000026" "g.113449489C>T" "" "" "" "MUSK(NM_005592.4):c.299C>T (p.(Thr100Met), p.T100M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110687209C>T" "" "benign" "" "0000292212" "0" "30" "9" "113530241" "113530241" "subst" "0.000621421" "01943" "MUSK_000028" "g.113530241G>A" "" "" "" "MUSK(NM_005592.3):c.1062G>A (p.T354=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110767961G>A" "" "likely benign" "" "0000292213" "0" "30" "9" "113562599" "113562599" "subst" "0.000254555" "01943" "MUSK_000022" "g.113562599C>T" "" "" "" "MUSK(NM_005592.3):c.1941C>T (p.V647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.110800319C>T" "" "likely benign" "" "0000414027" "0" "50" "9" "113449441" "113449441" "subst" "0" "02957" "MUSK_000033" "g.113449441T>C" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.110687161T>C" "" "VUS" "" "0000536020" "0" "30" "9" "113457722" "113457722" "subst" "0.00448576" "02326" "MUSK_000035" "g.113457722T>C" "" "" "" "MUSK(NM_001166280.1):c.398T>C (p.(Ile133Thr)), MUSK(NM_005592.4):c.398T>C (p.I133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110695442T>C" "" "likely benign" "" "0000536023" "0" "10" "9" "113538122" "113538122" "subst" "0.119707" "02327" "MUSK_000029" "g.113538122G>A" "" "" "" "MUSK(NM_005592.4):c.1239G>A (p.M413I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110775842G>A" "" "benign" "" "0000536024" "0" "70" "9" "113538243" "113538243" "subst" "2.48262E-5" "02327" "MUSK_000037" "g.113538243G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110775963G>A" "" "likely pathogenic" "" "0000536025" "0" "50" "9" "113550116" "113550116" "subst" "4.18968E-6" "02327" "MUSK_000038" "g.113550116T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110787836T>C" "" "VUS" "" "0000536027" "0" "30" "9" "113562649" "113562649" "subst" "0.00831301" "01804" "MUSK_000031" "g.113562649A>G" "" "" "" "MUSK(NM_001166280.1):c.1733A>G (p.(Asn578Ser)), MUSK(NM_005592.4):c.1991A>G (p.N664S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110800369A>G" "" "likely benign" "" "0000611820" "0" "30" "9" "113496568" "113496568" "subst" "0.00225112" "01943" "MUSK_000036" "g.113496568T>C" "" "" "" "MUSK(NM_005592.3):c.666T>C (p.N222=), MUSK(NM_005592.4):c.666T>C (p.N222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110734288T>C" "" "likely benign" "" "0000611821" "0" "50" "9" "113562589" "113562589" "subst" "0.00297808" "01943" "MUSK_000043" "g.113562589T>C" "" "" "" "MUSK(NM_005592.3):c.1931T>C (p.V644A), MUSK(NM_005592.4):c.1931T>C (p.(Val644Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110800309T>C" "" "VUS" "" "0000622152" "0" "70" "9" "113496656" "113496656" "subst" "0" "01943" "MUSK_000042" "g.113496656G>A" "" "" "" "MUSK(NM_005592.3):c.753+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.110734376G>A" "" "likely pathogenic" "" "0000652575" "1" "50" "9" "113431103" "113431103" "subst" "0" "03575" "MUSK_000044" "g.113431103T>C" "66/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "66 heterozygous; {DB:CLININrs41279047}" "Germline" "" "rs41279047" "0" "" "" "g.110668823T>C" "" "VUS" "" "0000652576" "1" "30" "9" "113449489" "113449489" "subst" "0.0230941" "03575" "MUSK_000026" "g.113449489C>T" "18/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous, no homozygous; {DB:CLININrs35142681}" "Germline" "" "rs35142681" "0" "" "" "g.110687209C>T" "" "likely benign" "" "0000652577" "1" "50" "9" "113562589" "113562589" "subst" "0.00297808" "03575" "MUSK_000043" "g.113562589T>C" "19/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 19 heterozygous, no homozygous; {DB:CLININrs41279055}" "Germline" "" "rs41279055" "0" "" "" "g.110800309T>C" "" "VUS" "" "0000670033" "3" "50" "9" "113431103" "113431103" "subst" "0" "03575" "MUSK_000044" "g.113431103T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs41279047}" "Germline" "" "rs41279047" "0" "" "" "g.110668823T>C" "" "VUS" "" "0000690370" "0" "50" "9" "113547974" "113547974" "subst" "0" "01943" "MUSK_000045" "g.113547974C>T" "" "" "" "MUSK(NM_005592.3):c.1754C>T (p.A585V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690371" "0" "50" "9" "113563062" "113563062" "subst" "0" "01943" "MUSK_000046" "g.113563062C>T" "" "" "" "MUSK(NM_005592.3):c.2404C>T (p.P802S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690372" "0" "30" "9" "113563143" "113563143" "subst" "0.043393" "01804" "MUSK_000047" "g.113563143G>T" "" "" "" "MUSK(NM_001166280.1):c.2227G>T (p.(Val743Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722211" "0" "90" "9" "113431254" "113431254" "del" "0" "02329" "MUSK_000034" "g.113431254del" "" "" "" "MUSK(NM_005592.4):c.70delC (p.L24Ffs*17)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722212" "0" "50" "9" "113496528" "113496528" "subst" "1.24951E-5" "02329" "MUSK_000040" "g.113496528C>T" "" "" "" "MUSK(NM_005592.3):c.629-3C>T, MUSK(NM_005592.4):c.629-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722213" "0" "50" "9" "113496549" "113496549" "subst" "3.67629E-5" "02329" "MUSK_000041" "g.113496549G>A" "" "" "" "MUSK(NM_005592.4):c.647G>A (p.R216Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722214" "0" "90" "9" "113547944" "113547944" "subst" "1.62635E-5" "02327" "MUSK_000010" "g.113547944T>C" "" "" "" "MUSK(NM_005592.4):c.1724T>C (p.I575T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722215" "0" "50" "9" "113562969" "113562969" "subst" "0" "02329" "MUSK_000039" "g.113562969C>T" "" "" "" "MUSK(NM_005592.4):c.2311C>T (p.P771S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786649" "1" "70" "9" "113449498" "113449498" "subst" "2.84342E-5" "00006" "MUSK_000048" "g.113449498A>G" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline" "" "" "0" "" "" "g.110687218A>G" "" "likely pathogenic" "" "0000786678" "2" "70" "9" "113563015" "113563015" "subst" "0" "00006" "MUSK_000049" "g.113563015G>A" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline" "" "" "0" "" "" "g.110800735G>A" "" "likely pathogenic" "" "0000786952" "3" "70" "9" "113449498" "113449498" "subst" "2.84342E-5" "00006" "MUSK_000048" "g.113449498A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.110687218A>G" "" "likely pathogenic" "" "0000803827" "0" "30" "9" "113444946" "113444946" "subst" "0.000660562" "01943" "MUSK_000050" "g.113444946C>T" "" "" "" "MUSK(NM_005592.3):c.80-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803828" "0" "30" "9" "113449502" "113449502" "subst" "0.000718998" "02326" "MUSK_000051" "g.113449502T>C" "" "" "" "MUSK(NM_005592.4):c.312T>C (p.G104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803829" "0" "50" "9" "113496528" "113496528" "subst" "1.24951E-5" "01943" "MUSK_000040" "g.113496528C>T" "" "" "" "MUSK(NM_005592.3):c.629-3C>T, MUSK(NM_005592.4):c.629-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803830" "0" "50" "9" "113496567" "113496567" "subst" "0.000920031" "01943" "MUSK_000052" "g.113496567A>G" "" "" "" "MUSK(NM_005592.3):c.665A>G (p.N222S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000844725" "0" "70" "9" "113547964" "113547964" "subst" "8.18384E-6" "04292" "MUSK_000054" "g.113547964G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000844726" "0" "70" "9" "113496600" "113496600" "subst" "0" "04292" "MUSK_000053" "g.113496600G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000861350" "0" "30" "9" "113457722" "113457722" "subst" "0.00448576" "01804" "MUSK_000035" "g.113457722T>C" "" "" "" "MUSK(NM_001166280.1):c.398T>C (p.(Ile133Thr)), MUSK(NM_005592.4):c.398T>C (p.I133T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888574" "0" "10" "9" "113490972" "113490972" "subst" "0.029247" "01804" "MUSK_000055" "g.113490972A>C" "" "" "" "MUSK(NM_001166280.1):c.633A>C (p.(Glu211Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888575" "0" "30" "9" "113496568" "113496568" "subst" "0.00225112" "02326" "MUSK_000036" "g.113496568T>C" "" "" "" "MUSK(NM_005592.3):c.666T>C (p.N222=), MUSK(NM_005592.4):c.666T>C (p.N222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037135" "0" "30" "9" "113449415" "113449415" "subst" "0.00518582" "01804" "MUSK_000023" "g.113449415C>T" "" "" "" "MUSK(NM_005592.4):c.225C>T (p.(Tyr75=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037136" "0" "10" "9" "113449489" "113449489" "subst" "0.0230941" "01804" "MUSK_000026" "g.113449489C>T" "" "" "" "MUSK(NM_005592.4):c.299C>T (p.(Thr100Met), p.T100M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037137" "0" "50" "9" "113457810" "113457810" "subst" "0.000287518" "01804" "MUSK_000056" "g.113457810G>C" "" "" "" "MUSK(NM_005592.4):c.486G>C (p.(Arg162Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037138" "0" "50" "9" "113530206" "113530206" "subst" "4.06147E-6" "01804" "MUSK_000057" "g.113530206G>T" "" "" "" "MUSK(NM_005592.4):c.1027G>T (p.(Asp343Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037139" "0" "30" "9" "113562589" "113562589" "subst" "0.00297808" "01804" "MUSK_000043" "g.113562589T>C" "" "" "" "MUSK(NM_005592.3):c.1931T>C (p.V644A), MUSK(NM_005592.4):c.1931T>C (p.(Val644Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053319" "0" "50" "9" "113459675" "113459675" "subst" "4.47956E-5" "01804" "MUSK_000058" "g.113459675G>C" "" "" "" "MUSK(NM_005592.4):c.557G>C (p.(Gly186Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053320" "0" "30" "9" "113496528" "113496528" "subst" "1.24951E-5" "01804" "MUSK_000040" "g.113496528C>T" "" "" "" "MUSK(NM_005592.3):c.629-3C>T, MUSK(NM_005592.4):c.629-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001053321" "0" "50" "9" "113510063" "113510063" "subst" "8.1324E-6" "01804" "MUSK_000059" "g.113510063C>G" "" "" "" "MUSK(NM_005592.4):c.896C>G (p.(Ala299Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053322" "0" "70" "9" "113547877" "113547877" "subst" "3.25034E-5" "01804" "MUSK_000060" "g.113547877A>G" "" "" "" "MUSK(NM_005592.4):c.1657A>G (p.(Met553Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053323" "0" "70" "9" "113547989" "113547989" "subst" "0" "01804" "MUSK_000061" "g.113547989T>C" "" "" "" "MUSK(NM_005592.4):c.1769T>C (p.(Phe590Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001053324" "0" "50" "9" "113562989" "113562989" "subst" "0" "01804" "MUSK_000062" "g.113562989C>G" "" "" "" "MUSK(NM_005592.4):c.2331C>G (p.(Asn777Lys))" "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 MUSK ## Count = 86 "{{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}}" "0000063486" "00025237" "10" "402" "0" "402" "0" "c.402G>A" "r.(=)" "p.(Glu144=)" "4" "0000063487" "00025237" "10" "629" "-5606" "629" "-5606" "c.629-5606G>A" "r.(?)" "p.(=)" "5i" "0000063488" "00025237" "10" "225" "0" "225" "0" "c.225C>T" "r.(=)" "p.(Tyr75=)" "3" "0000063489" "00025237" "10" "1941" "0" "1941" "0" "c.1941C>T" "r.(=)" "p.(=)" "15" "0000222714" "00025237" "70" "1742" "0" "1742" "0" "c.1742T>A" "r.(?)" "p.(Ile581Asn)" "13" "0000222715" "00025237" "70" "1634" "0" "1634" "0" "c.1634T>C" "r.(?)" "p.(Leu545Pro)" "13" "0000235494" "00025237" "90" "224" "0" "224" "0" "c.224A>C" "r.(224a>c)" "p.(Tyr75Ser)" "3" "0000235502" "00025237" "90" "40" "0" "40" "0" "c.40dup" "r.40dup" "p.Thr14Asnfs*9" "1" "0000235503" "00025237" "90" "80" "-1" "358" "1" "c.(79+1_80-1)_(358+1_359-1)del" "r.80_358del" "p.Ala27_Lys120delinsGlu" "1i_3i" "0000235504" "00025237" "90" "114" "0" "114" "0" "c.114T>A" "r.114u>a" "p.Asp38Glu" "2" "0000235505" "00025237" "10" "206" "28" "206" "28" "c.206+28A>T" "r.(?)" "p.(=)" "2i" "0000235506" "00025237" "10" "0" "0" "0" "0" "c.?" "r.(?)" "p.(=)" "3i" "0000235507" "00025237" "90" "220" "0" "220" "0" "c.220dup" "r.(?)" "p.(fs*)" "3" "0000235508" "00025237" "90" "220" "0" "220" "0" "c.220dup" "r.(?)" "p.(fs*)" "3" "0000235509" "00025237" "10" "402" "0" "402" "0" "c.402G>A" "r.(?)" "p.(=)" "4" "0000235510" "00025237" "70" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Lys156Argfs*20)" "4" "0000235511" "00025237" "90" "467" "0" "467" "0" "c.467del" "r.(?)" "p.(Lys156Argfs*20)" "4" "0000235512" "00025237" "10" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(=)" "5" "0000235513" "00025237" "90" "1031" "0" "1031" "0" "c.1031C>G" "r.(?)" "p.(Pro344Arg)" "9" "0000235514" "00025237" "90" "1031" "0" "1031" "0" "c.1031C>G" "r.(?)" "p.(Pro344Arg)" "9" "0000235515" "00025237" "90" "1724" "0" "1724" "0" "c.1724T>C" "r.(?)" "p.(Ile575Thr)" "13" "0000235516" "00025237" "90" "1724" "0" "1724" "0" "c.1724T>C" "r.(?)" "p.(Ile575Thr)" "14" "0000235517" "00025237" "90" "1815" "0" "1815" "0" "c.1815G>A" "r.(?)" "p.(Met605Ile)" "14" "0000235518" "00025237" "50" "2002" "0" "2002" "0" "c.2002C>T" "r.(?)" "p.(Arg668Cys)" "15" "0000235519" "00025237" "90" "2180" "0" "2180" "0" "c.2180C>T" "r.(?)" "p.(Ala727Val)" "15" "0000235520" "00025237" "90" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Val790Met)" "15" "0000235521" "00025237" "90" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Val790Met)" "15" "0000235522" "00025237" "90" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Val790Met)" "15" "0000235523" "00025237" "90" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Val790Met)" "15" "0000235524" "00025237" "90" "2503" "0" "2503" "0" "c.2503A>G" "r.(?)" "p.(Met835Val)" "15" "0000235525" "00025237" "90" "220" "0" "220" "0" "c.(220dup)" "r.(?)" "p.(fs*)" "3" "0000235526" "00025237" "90" "2368" "0" "2368" "0" "c.(2368G>A)" "r.(?)" "p.Val790Met" "15" "0000251951" "00025237" "30" "1991" "0" "1991" "0" "c.1991A>G" "r.(?)" "p.(Asn664Ser)" "" "0000282690" "00025237" "10" "1239" "0" "1239" "0" "c.1239G>A" "r.(?)" "p.(Met413Ile)" "" "0000282691" "00025237" "10" "1927" "50" "1927" "50" "c.1927+50T>C" "r.(=)" "p.(=)" "" "0000282692" "00025237" "10" "537" "0" "537" "0" "c.537C>T" "r.(?)" "p.(Asn179=)" "" "0000283750" "00025237" "90" "1724" "0" "1724" "0" "c.1724T>C" "r.(?)" "p.(Ile575Thr)" "" "0000283751" "00025237" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Arg74Trp)" "" "0000283752" "00025237" "50" "320" "0" "320" "0" "c.320G>A" "r.(?)" "p.(Gly107Glu)" "" "0000286711" "00025237" "10" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "" "0000292212" "00025237" "30" "1062" "0" "1062" "0" "c.1062G>A" "r.(?)" "p.(Thr354=)" "" "0000292213" "00025237" "30" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Val647=)" "" "0000414027" "00025237" "50" "251" "0" "251" "0" "c.251T>C" "r.(?)" "p.(Leu84Pro)" "3" "0000536020" "00025237" "30" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Ile133Thr)" "" "0000536023" "00025237" "10" "1239" "0" "1239" "0" "c.1239G>A" "r.(?)" "p.(Met413Ile)" "" "0000536024" "00025237" "70" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Asp454Asn)" "" "0000536025" "00025237" "50" "1925" "0" "1925" "0" "c.1925T>C" "r.(?)" "p.(Leu642Ser)" "" "0000536027" "00025237" "30" "1991" "0" "1991" "0" "c.1991A>G" "r.(?)" "p.(Asn664Ser)" "" "0000611820" "00025237" "30" "666" "0" "666" "0" "c.666T>C" "r.(?)" "p.(Asn222=)" "" "0000611821" "00025237" "50" "1931" "0" "1931" "0" "c.1931T>C" "r.(?)" "p.(Val644Ala)" "" "0000622152" "00025237" "70" "753" "1" "753" "1" "c.753+1G>A" "r.spl?" "p.?" "" "0000652575" "00025237" "50" "-82" "0" "-82" "0" "c.-82T>C" "r.(=)" "p.(=)" "" "0000652576" "00025237" "30" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "" "0000652577" "00025237" "50" "1931" "0" "1931" "0" "c.1931T>C" "r.(?)" "p.(Val644Ala)" "" "0000670033" "00025237" "50" "-82" "0" "-82" "0" "c.-82T>C" "r.(=)" "p.(=)" "" "0000690370" "00025237" "50" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Ala585Val)" "" "0000690371" "00025237" "50" "2404" "0" "2404" "0" "c.2404C>T" "r.(?)" "p.(Pro802Ser)" "" "0000690372" "00025237" "30" "2485" "0" "2485" "0" "c.2485G>T" "r.(?)" "p.(Val829Leu)" "" "0000722211" "00025237" "90" "70" "0" "70" "0" "c.70del" "r.(?)" "p.(Leu24PhefsTer17)" "" "0000722212" "00025237" "50" "629" "-3" "629" "-3" "c.629-3C>T" "r.spl?" "p.?" "" "0000722213" "00025237" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216Gln)" "" "0000722214" "00025237" "90" "1724" "0" "1724" "0" "c.1724T>C" "r.(?)" "p.(Ile575Thr)" "" "0000722215" "00025237" "50" "2311" "0" "2311" "0" "c.2311C>T" "r.(?)" "p.(Pro771Ser)" "" "0000786649" "00025237" "70" "308" "0" "308" "0" "c.308A>G" "r.(?)" "p.(Asn103Ser)" "" "0000786678" "00025237" "70" "2357" "0" "2357" "0" "c.2357G>A" "r.(?)" "p.(Trp786*)" "" "0000786952" "00025237" "70" "308" "0" "308" "0" "c.308A>G" "r.(?)" "p.(Asn103Ser)" "3" "0000803827" "00025237" "30" "80" "-8" "80" "-8" "c.80-8C>T" "r.(=)" "p.(=)" "" "0000803828" "00025237" "30" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Gly104=)" "" "0000803829" "00025237" "50" "629" "-3" "629" "-3" "c.629-3C>T" "r.spl?" "p.?" "" "0000803830" "00025237" "50" "665" "0" "665" "0" "c.665A>G" "r.(?)" "p.(Asn222Ser)" "" "0000844725" "00025237" "70" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Gly582Arg)" "" "0000844726" "00025237" "70" "698" "0" "698" "0" "c.698G>A" "r.(?)" "p.(Cys233Tyr)" "" "0000861350" "00025237" "30" "398" "0" "398" "0" "c.398T>C" "r.(?)" "p.(Ile133Thr)" "" "0000888574" "00025237" "10" "629" "-5559" "629" "-5559" "c.629-5559A>C" "r.(=)" "p.(=)" "" "0000888575" "00025237" "30" "666" "0" "666" "0" "c.666T>C" "r.(?)" "p.(Asn222=)" "" "0001037135" "00025237" "30" "225" "0" "225" "0" "c.225C>T" "r.(?)" "p.(=)" "" "0001037136" "00025237" "10" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(Thr100Met)" "" "0001037137" "00025237" "50" "486" "0" "486" "0" "c.486G>C" "r.(?)" "p.(Arg162Ser)" "" "0001037138" "00025237" "50" "1027" "0" "1027" "0" "c.1027G>T" "r.(?)" "p.(Asp343Tyr)" "" "0001037139" "00025237" "30" "1931" "0" "1931" "0" "c.1931T>C" "r.(?)" "p.(Val644Ala)" "" "0001053319" "00025237" "50" "557" "0" "557" "0" "c.557G>C" "r.(?)" "p.(Gly186Ala)" "" "0001053320" "00025237" "30" "629" "-3" "629" "-3" "c.629-3C>T" "r.spl?" "p.?" "" "0001053321" "00025237" "50" "896" "0" "896" "0" "c.896C>G" "r.(?)" "p.(Ala299Gly)" "" "0001053322" "00025237" "70" "1657" "0" "1657" "0" "c.1657A>G" "r.(?)" "p.(Met553Val)" "" "0001053323" "00025237" "70" "1769" "0" "1769" "0" "c.1769T>C" "r.(?)" "p.(Phe590Ser)" "" "0001053324" "00025237" "50" "2331" "0" "2331" "0" "c.2331C>G" "r.(?)" "p.(Asn777Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000036361" "0000063486" "0000036362" "0000063487" "0000036363" "0000063488" "0000036364" "0000063489" "0000133490" "0000222714" "0000133491" "0000222715" "0000144668" "0000235494" "0000144676" "0000235502" "0000144677" "0000235503" "0000144677" "0000235504" "0000144678" "0000235505" "0000144679" "0000235506" "0000144680" "0000235507" "0000144680" "0000235520" "0000144681" "0000235508" "0000144681" "0000235521" "0000144682" "0000235509" "0000144683" "0000235510" "0000144683" "0000235522" "0000144684" "0000235511" "0000144684" "0000235523" "0000144685" "0000235512" "0000144686" "0000235513" "0000144686" "0000235514" "0000144687" "0000235515" "0000144688" "0000235516" "0000144689" "0000235517" "0000144689" "0000235519" "0000144690" "0000235518" "0000144691" "0000235524" "0000205217" "0000414027" "0000295886" "0000652575" "0000295887" "0000652576" "0000295888" "0000652577" "0000306345" "0000670033" "0000375308" "0000786649" "0000375308" "0000786678" "0000375601" "0000786952" "0000407897" "0000844725" "0000407897" "0000844726"