### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DYM) # 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}}" "DYM" "dymeclin" "18" "q21.1" "unknown" "NC_000018.9" "UD_132085362289" "" "https://www.LOVD.nl/DYM" "" "1" "21317" "54808" "607461" "1" "1" "1" "1" "Change to MANE transcript NM_001353214.3\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-11-11 16:14:49" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00006788" "DYM" "dymeclin" "001" "NM_017653.3" "" "NP_060123.3" "" "" "" "-365" "2263" "2010" "46987079" "46570172" "" "0000-00-00 00:00:00" "" "" "00025757" "DYM" "transcript variant 6" "000" "NM_001353214.3" "" "NP_001340143.1" "" "" "" "-301" "9843" "2175" "46987015" "46562757" "00006" "2022-11-11 16:14:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01757" "DMC" "Dyggve-Melchior-Clausen disease" "AR" "223800" "" "height below 2SD, OFC below 3rd percentile, coarse facies, short neck, short trunk, brachydactyly, barrel chest/pectus carinatum, abdominal distension, lumbar lordosis, restricted major joint mobility, waddling gait, intellectual disability/global developmental delay, no odontoid hypoplasia, platyspondyly, double hump vertebral bodies, short and broad ilia with basilar hypoplasia, lacy iliac crests, rhizomelic upper/lower limbs, irregularities epiphyses, irregularities metaphysis, shortened metacarpals, shortened phalanges, carpal bone irregularities, genua valga" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-31 21:02:09" "02647" "SMC1" "dysplasia, Smith-McCort, type 1" "AD" "607326" "" "height below 2SD, normal OFC, short neck, short trunk, barrel chest/pectus carinatum, abdominal distension, restricted major joint mobility, waddling gait, no intellectual disability/global developmental delay, no odontoid hypoplasia, platyspondyly, double hump vertebral bodies, short and broad ilia with basilar hypoplasia, lacy iliac crests, rhizomelic upper/lower limbs, irregularities epiphyses, irregularities metaphysis, shortened metacarpals, shortened phalanges, genua valga" "" "00006" "2014-09-25 23:29:40" "00006" "2023-01-31 21:01:04" "05346" "SEMD" "dysplasia, spondyloepimetaphyseal (SEMD)" "" "" "" "" "" "00006" "2017-11-17 14:28:27" "" "" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DYM" "00139" "DYM" "01757" "DYM" "02647" ## Individuals ## Do not remove or alter this header ## ## Count = 39 "{{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}}" "00291972" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291973" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331404" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "no" "" "" "0" "" "" "" "12DG2198, 12DG2199" "00331405" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "" "12DG2350" "00331406" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (3F)" "F" "yes" "" "" "0" "" "" "Arab" "13DG2185, 13DG2186, 13DG2187" "00331407" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "13DG0239" "00331408" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "13DG0451" "00331409" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "13DG0720, 13DG0721" "00331410" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "13DG0723, 13DG0724" "00331411" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "13DG0636, 13DG0636" "00331412" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "" "" "" "0" "" "" "Arab" "13DG2222" "00331413" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "17DG0789" "00331414" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "17DG0790" "00331415" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "17DG0791" "00331416" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "17DG0792" "00331417" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "F" "yes" "" "" "0" "" "" "Arab" "17DG0793" "00331418" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "F" "yes" "" "" "0" "" "" "Arab" "17DG0794" "00359404" "" "" "" "1" "" "03149" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "yes" "Brazil" "" "0" "" "" "" "Pat56" "00387719" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals" "" "" "Iran" "" "0" "" "" "Persia" "M143" "00387783" "" "" "" "2" "" "00006" "{PMID:Hu 2019:29302074}" "family, 2 affected individuals, first cousin parents" "" "yes" "Iran" "" "0" "" "" "Persia" "M8600158" "00412708" "" "" "" "1" "" "03251" "" "" "-" "yes" "(Pakistan)" "" "" "" "" "" "" "00423220" "" "" "" "9" "" "00006" "{PMID:Abdullah 2020:32886330}" "5-generation family, 8 affected (5F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "family" "00431167" "" "" "" "2" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, affected brother/sister, first cousin parents" "M" "yes" "India" "" "0" "" "" "" "Fam1PatD1" "00431168" "" "" "00431167" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "sister" "F" "yes" "India" "" "0" "" "" "" "Fam1PatD2" "00431169" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, 1 affected, first cousin parents" "M" "yes" "India" "" "0" "" "" "" "Fam2PatD3" "00431170" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "2-generation family, 1 affected, first cousin parents" "M" "yes" "India" "" "0" "" "" "" "Fam3PatD4" "00431171" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, 1 affected, uncle/niece parents" "M" "yes" "India" "" "0" "" "" "" "Fam4PatD5" "00431172" "" "" "" "2" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, affected sisters, first cousin parents" "F" "yes" "India" "" "0" "" "" "" "Fam6PatD7" "00431173" "" "" "00431172" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "sister" "F" "yes" "India" "" "0" "" "" "" "Fam6PatD8" "00431174" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "5-generation family, 1 affected, first cousin parents" "F" "yes" "India" "" "0" "" "" "" "Fam7PatD9" "00431175" "" "" "" "2" "" "00006" "{PMID:Varshney 2023:35477554}" "2-generation family, affected brother/sister, first cousin parents" "M" "yes" "India" "" "0" "" "" "" "Fam8PatD10" "00431176" "" "" "00431175" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "sister" "F" "yes" "India" "" "0" "" "" "" "Fam8PatD11" "00431177" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "2-generation family, 1 affected, unaffected parents" "M" "no" "India" "" "0" "" "" "" "Fam9PatD12" "00431178" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, 1 affected, uncle/niece parents" "F" "yes" "India" "" "0" "" "" "" "Fam10PatD13" "00431179" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "2-generation family, 1 affected, unaffected parents" "M" "no" "India" "" "0" "" "" "" "Fam11PatD14" "00431180" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, 1 affected, first cousin parents" "M" "yes" "India" "" "0" "" "" "" "Fam12PatD15" "00431181" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, 1 affected, first cousin parents" "M" "yes" "India" "" "0" "" "" "" "Fam13PatD16" "00431188" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, 1 affected, first cousin parents" "M" "yes" "India" "" "0" "" "" "" "Fam18PatD23" "00431189" "" "" "" "1" "" "00006" "{PMID:Varshney 2023:35477554}" "4-generation family, 1 affected, first cousin parents" "M" "yes" "India" "" "0" "" "" "" "Fam19PatD24" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 39 "{{individualid}}" "{{diseaseid}}" "00291972" "00198" "00291973" "00198" "00331404" "05517" "00331405" "05517" "00331406" "05517" "00331407" "05517" "00331408" "05517" "00331409" "05517" "00331410" "05517" "00331411" "05517" "00331412" "05517" "00331413" "05517" "00331414" "05517" "00331415" "05517" "00331416" "05517" "00331417" "05517" "00331418" "05517" "00359404" "01757" "00387719" "00139" "00387783" "00139" "00412708" "01757" "00423220" "01757" "00431167" "05346" "00431168" "05346" "00431169" "05346" "00431170" "05346" "00431171" "05346" "00431172" "05346" "00431173" "05346" "00431174" "05346" "00431175" "05346" "00431176" "05346" "00431177" "05346" "00431178" "05346" "00431179" "05346" "00431180" "05346" "00431181" "05346" "00431188" "05346" "00431189" "05346" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01757, 02647, 05346, 05517 ## Count = 35 "{{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}}" "0000249596" "05517" "00331404" "00000" "Familial, autosomal recessive" "" "Non-Arab ( Disproportionate short stature, Microcephaly, Pectus carinatum, Spinal canal stenosis, WiYes" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249597" "05517" "00331405" "00000" "Familial, autosomal recessive" "" "Non-Arab ( Intellectual disability, Short stature, Pectus carinatum, Failure to thrive" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249598" "05517" "00331406" "00000" "Familial, autosomal recessive" "" "Intellectual disability, Microcephaly, Pectus carinatum, Failure to thrive" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249599" "05517" "00331407" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Short stature, Scoliosis" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249600" "05517" "00331408" "00000" "Familial, autosomal recessive" "" "Seizures, Short stature, Brachydactyly, Camptodactyly, Hyperlordosis, Platyspondyly, Hyp Yes" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249601" "05517" "00331409" "00000" "Familial, autosomal recessive" "" "Short stature, Microcephaly, Generalized hypotonia, Brisk reflexes, Intellectual disability, Yes" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249602" "05517" "00331410" "00000" "Familial, autosomal recessive" "" "Failure to thrive, Intellectual disability" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249603" "05517" "00331411" "00000" "Familial, autosomal recessive" "" "Intellectual disability, Short stature, Short neck, Pectus excavatum, Intercostal retractions Yes" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249604" "05517" "00331412" "00000" "Familial, autosomal recessive" "" "Skeletal dysplasia" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249605" "05517" "00331413" "00000" "Familial, autosomal recessive" "" "Intellectual disability, Abnormality of the vertebral column, Microcephaly" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249606" "05517" "00331414" "00000" "Familial, autosomal recessive" "" "Intellectual disability, Abnormality of the vertebral column, Failure to thrive, Microcephal Yes" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249607" "05517" "00331415" "00000" "Familial, autosomal recessive" "" "Intellectual disability, Abnormality of the vertebral column, Failure to thrive, Microcephal Yes" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249608" "05517" "00331416" "00000" "Familial, autosomal recessive" "" "Intellectual disability, Abnormality of the vertebral column, Failure to thrive, Microcephal Yes" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249609" "05517" "00331417" "00000" "Familial, autosomal recessive" "" "Failure to thrive, Profound global developmental delay, Coarse facial features" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000249610" "05517" "00331418" "00000" "Familial, autosomal recessive" "" "Intellectual disability, Abnormality of the vertebral column, Failure to thrive, Microcephal Yes" "" "" "" "" "" "" "" "" "Spondylo-epi-(meta)-physeal dysplasias (SE(M)D)" "skeletal dysplasia" "" "0000281287" "00139" "00387719" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000281351" "00139" "00387783" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000314424" "01757" "00423220" "00006" "Familial, autosomal recessive" "" "see paperp; ..., skeletal dysplasia, mental retardation, progressive spondyloepimetaphyseal dysplasia, disproportionate short stature, generalized platyspondyly, lacy iliac crest" "" "" "" "" "" "" "" "" "DMC" "Dyggve-Melchior-Clausen syndrome" "" "0000321776" "05346" "00431167" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321777" "05346" "00431168" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321778" "05346" "00431169" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321779" "05346" "00431170" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321780" "05346" "00431171" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321781" "05346" "00431172" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321782" "05346" "00431173" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321783" "05346" "00431174" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321784" "05346" "00431175" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321785" "05346" "00431176" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321786" "05346" "00431177" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321787" "05346" "00431178" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321788" "05346" "00431179" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321789" "05346" "00431180" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321790" "05346" "00431181" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321797" "05346" "00431188" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" "0000321798" "05346" "00431189" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DMC/SMC1" "spondyloepimetaphyseal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 39 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293140" "00291972" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293141" "00291973" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332623" "00331404" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332624" "00331405" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332625" "00331406" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332626" "00331407" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332627" "00331408" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332628" "00331409" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332629" "00331410" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332630" "00331411" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332631" "00331412" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332632" "00331413" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332633" "00331414" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332634" "00331415" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332635" "00331416" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332636" "00331417" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332637" "00331418" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360646" "00359404" "1" "03149" "03149" "2021-03-20 17:54:37" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388950" "00387719" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000389014" "00387783" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000413978" "00412708" "1" "03251" "03251" "2022-07-02 23:27:41" "" "" "PCR" "DNA" "" "" "0000424530" "00423220" "1" "00006" "00006" "2022-11-11 16:21:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000432578" "00431167" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000432579" "00431168" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432580" "00431169" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000432581" "00431170" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000432582" "00431171" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000432583" "00431172" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000432584" "00431173" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000432585" "00431174" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432586" "00431175" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432587" "00431176" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432588" "00431177" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432589" "00431178" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432590" "00431179" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432591" "00431180" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432592" "00431181" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ" "DNA" "" "" "0000432599" "00431188" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" "0000432600" "00431189" "1" "00006" "00006" "2023-01-31 20:49:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES clinical" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000332623" "DYM" "0000332624" "DYM" "0000332625" "DYM" "0000332626" "DYM" "0000332627" "DYM" "0000332628" "DYM" "0000332629" "DYM" "0000332630" "DYM" "0000332631" "DYM" "0000332632" "DYM" "0000332633" "DYM" "0000332634" "DYM" "0000332635" "DYM" "0000332636" "DYM" "0000332637" "DYM" "0000388950" "DYM" "0000389014" "DYM" "0000413978" "DYM" "0000424530" "DYM" ## 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 = 71 "{{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}}" "0000267722" "0" "30" "18" "46905012" "46905012" "subst" "6.92165E-5" "02325" "DYM_000006" "g.46905012C>A" "" "" "" "DYM(NM_017653.3):c.346G>T (p.(Val116Leu)), DYM(NM_017653.6):c.346G>T (p.V116L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49378642C>A" "" "likely benign" "" "0000271037" "0" "90" "18" "46623866" "46623866" "subst" "0" "02326" "DYM_000001" "g.46623866G>C" "" "" "" "DYM(NM_017653.5):c.1766C>G (p.S589*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49097496G>C" "" "pathogenic" "" "0000325914" "0" "50" "18" "46860183" "46860183" "subst" "0" "01804" "DYM_000005" "g.46860183T>C" "" "" "" "DYM(NM_017653.3):c.535A>G (p.(Met179Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49333813T>C" "" "VUS" "" "0000348792" "0" "50" "18" "46860167" "46860167" "subst" "4.06306E-6" "02327" "DYM_000007" "g.46860167G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49333797G>A" "" "VUS" "" "0000564944" "0" "30" "18" "46570533" "46570533" "subst" "0" "01804" "DYM_000008" "g.46570533C>A" "" "" "" "DYM(NM_017653.3):c.1902G>T (p.(Gln634His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49044163C>A" "" "likely benign" "" "0000564946" "0" "70" "18" "46860108" "46860108" "subst" "8.12612E-6" "01943" "DYM_000010" "g.46860108G>A" "" "" "" "DYM(NM_017653.4):c.610C>T (p.R204*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49333738G>A" "" "likely pathogenic" "" "0000564947" "0" "30" "18" "46860218" "46860218" "subst" "0.000831859" "01804" "DYM_000011" "g.46860218A>T" "" "" "" "DYM(NM_017653.3):c.500T>A (p.(Ile167Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49333848A>T" "" "likely benign" "" "0000564948" "0" "30" "18" "46904963" "46904963" "subst" "4.06884E-6" "01943" "DYM_000012" "g.46904963T>C" "" "" "" "DYM(NM_017653.4):c.395A>G (p.Y132C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49378593T>C" "" "likely benign" "" "0000623857" "0" "50" "18" "46645157" "46645157" "subst" "0.00105613" "01943" "DYM_000014" "g.46645157C>T" "" "" "" "DYM(NM_001353214.1):c.1868G>A (p.R623Q), DYM(NM_001353214.3):c.1868G>A (p.(Arg568Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49118787C>T" "" "VUS" "" "0000623858" "0" "30" "18" "46860094" "46860094" "subst" "0.00156816" "01943" "DYM_000015" "g.46860094A>C" "" "" "" "DYM(NM_001353214.1):c.620+4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49333724A>C" "" "likely benign" "" "0000649829" "1" "70" "18" "46623771" "46623771" "subst" "0" "03575" "DYM_000016" "g.46623771C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205511}" "Germline" "" "rs786205511" "0" "" "" "g.49097401C>T" "" "likely pathogenic" "" "0000649830" "1" "70" "18" "46906050" "46906050" "subst" "0" "03575" "DYM_000017" "g.46906050G>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205513}" "Germline" "" "rs786205513" "0" "" "" "g.49379680G>C" "" "likely pathogenic" "" "0000726901" "0" "50" "18" "46570448" "46570448" "subst" "0" "01804" "DYM_000018" "g.46570448G>C" "" "" "" "DYM(NM_017653.3):c.1987C>G (p.(Leu663Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726902" "0" "30" "18" "46623854" "46623854" "subst" "0.000812757" "01804" "DYM_000022" "g.46623854T>C" "" "" "" "DYM(NM_001353214.1):c.1943A>G (p.Q648R), DYM(NM_017653.3):c.1778A>G (p.(Gln593Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729905" "3" "90" "18" "46570515" "46570515" "del" "0" "00000" "DYM_000019" "g.46570515del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.1923delC:p.(Tyr642Metfs*78)" "" "Germline" "" "" "0" "" "" "g.49044145del" "" "likely pathogenic (recessive)" "" "0000729906" "1" "90" "18" "46906076" "46906083" "del" "0" "00000" "DYM_000027" "g.46906076_46906083del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.242_249del" "" "Germline" "" "" "0" "" "" "g.49379706_49379713del" "" "likely pathogenic (recessive)" "" "0000729907" "3" "90" "18" "46623771" "46623771" "subst" "0" "00000" "DYM_000016" "g.46623771C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.1860+1G>A" "" "Germline" "" "" "0" "" "" "g.49097401C>T" "" "likely pathogenic (recessive)" "" "0000729908" "3" "90" "18" "46906050" "46906050" "subst" "0" "00000" "DYM_000017" "g.46906050G>C" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.272C>G:p.(Ser91*)" "" "Germline" "" "" "0" "" "" "g.49379680G>C" "" "likely pathogenic (recessive)" "" "0000729909" "3" "90" "18" "46860108" "46860108" "subst" "8.12612E-6" "00000" "DYM_000010" "g.46860108G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.610C>T:p.(Arg204*)" "" "Germline" "" "" "0" "" "" "g.49333738G>A" "" "pathogenic (recessive)" "" "0000729910" "3" "90" "18" "46860108" "46860108" "subst" "8.12612E-6" "00000" "DYM_000010" "g.46860108G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.610C>T:p.(Arg204*)" "" "Germline" "" "" "0" "" "" "g.49333738G>A" "" "pathogenic (recessive)" "" "0000729911" "3" "90" "18" "46784740" "46784747" "del" "0" "00000" "DYM_000023" "g.46784740_46784747del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.1365+3delAAGTATTC" "" "Germline" "" "" "0" "" "" "g.49258370_49258377del" "" "likely pathogenic (recessive)" "" "0000729912" "3" "90" "18" "46812803" "46812803" "subst" "0" "00000" "DYM_000025" "g.46812803C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.946+1G>A" "" "Germline" "" "" "0" "" "" "g.49286433C>T" "" "likely pathogenic (recessive)" "" "0000729913" "3" "90" "18" "46784833" "46784833" "subst" "4.06729E-6" "00000" "DYM_000024" "g.46784833G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.1282C>T:p.(Arg428*)" "" "Germline" "" "" "0" "" "" "g.49258463G>A" "" "likely pathogenic (recessive)" "" "0000729914" "3" "90" "18" "46570559" "46570559" "del" "0" "00000" "DYM_000021" "g.46570559del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.1878delA:p.(Lys626Asnfs*94)" "" "Germline" "" "" "0" "" "" "g.49044189del" "" "pathogenic (recessive)" "" "0000729915" "3" "90" "18" "46570559" "46570559" "del" "0" "00000" "DYM_000021" "g.46570559del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.1878delA:p.(Lys626Asnfs*94)" "" "Germline" "" "" "0" "" "" "g.49044189del" "" "pathogenic (recessive)" "" "0000729916" "3" "90" "18" "46905056" "46905056" "subst" "0" "00000" "DYM_000026" "g.46905056C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.302G>A:p.(Trp101*)" "" "Germline" "" "" "0" "" "" "g.49378686C>T" "" "likely pathogenic (recessive)" "" "0000729917" "3" "90" "18" "46905056" "46905056" "subst" "0" "00000" "DYM_000026" "g.46905056C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.302G>A:p.(Trp101*)" "" "Germline" "" "" "0" "" "" "g.49378686C>T" "" "likely pathogenic (recessive)" "" "0000729918" "3" "90" "18" "46905056" "46905056" "subst" "0" "00000" "DYM_000026" "g.46905056C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.302G>A:p.(Trp101*)" "" "Germline" "" "" "0" "" "" "g.49378686C>T" "" "likely pathogenic (recessive)" "" "0000729919" "3" "90" "18" "46570559" "46570559" "del" "0" "00000" "DYM_000021" "g.46570559del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.1878delA:p.(Lys626Asnfs*94)" "" "Germline" "" "" "0" "" "" "g.49044189del" "" "pathogenic (recessive)" "" "0000730102" "2" "90" "18" "46570523" "46570523" "dup" "0" "00000" "DYM_000020" "g.46570523dup" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_017653.3:c.1917dup:p.(Ile640Ty" "" "Germline" "" "" "0" "" "" "g.49044153dup" "" "likely pathogenic (recessive)" "" "0000760706" "3" "90" "18" "46570559" "46570559" "del" "0" "03149" "DYM_000028" "g.46570559del" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.49044189del" "" "pathogenic (recessive)" "" "0000808504" "0" "50" "18" "46623780" "46623780" "subst" "0.000203201" "01804" "DYM_000029" "g.46623780T>C" "" "" "" "DYM(NM_001353214.3):c.2017A>G (p.(Arg618Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808505" "0" "50" "18" "46623854" "46623854" "subst" "0.000812757" "01943" "DYM_000022" "g.46623854T>C" "" "" "" "DYM(NM_001353214.1):c.1943A>G (p.Q648R), DYM(NM_017653.3):c.1778A>G (p.(Gln593Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808506" "0" "50" "18" "46889603" "46889603" "subst" "8.14385E-6" "01943" "DYM_000030" "g.46889603C>T" "" "" "" "DYM(NM_001353214.1):c.422G>A (p.S141N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000817743" "3" "90" "18" "46889551" "46889551" "del" "0" "00006" "DYM_000032" "g.46889551del" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.49363181del" "" "pathogenic (recessive)" "ACMG" "0000817807" "3" "90" "18" "46808420" "46808420" "subst" "0" "00006" "DYM_000031" "g.46808420G>A" "" "{PMID:Hu 2019:29302074}" "" "" "" "Germline" "" "" "0" "" "" "g.49282050G>A" "" "pathogenic (recessive)" "ACMG" "0000855316" "0" "30" "18" "46905012" "46905012" "subst" "6.92165E-5" "01804" "DYM_000006" "g.46905012C>A" "" "" "" "DYM(NM_017653.3):c.346G>T (p.(Val116Leu)), DYM(NM_017653.6):c.346G>T (p.V116L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865703" "0" "50" "18" "46645115" "46645115" "subst" "1.21914E-5" "01804" "DYM_000033" "g.46645115A>C" "" "" "" "DYM(NM_017653.3):c.1745T>G (p.(Leu582Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000871561" "0" "90" "18" "46798594" "46798594" "subst" "0" "03251" "DYM_000034" "g.46798594A>T" "" "" "" "g.189124T>A" "" "Germline" "yes" "" "0" "" "" "g.49272224A>T" "" "pathogenic" "" "0000894576" "0" "10" "18" "46623883" "46623883" "subst" "0.00836228" "01804" "DYM_000035" "g.46623883C>G" "" "" "" "DYM(NM_017653.3):c.1749G>C (p.(Val583=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000894577" "0" "90" "18" "46783393" "46783393" "subst" "0" "02327" "DYM_000036" "g.46783393G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894578" "0" "90" "18" "46906114" "46906114" "subst" "3.25486E-5" "02327" "DYM_000037" "g.46906114G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000900596" "3" "90" "18" "46956706" "46956706" "subst" "0" "00006" "DYM_000038" "g.46956706A>T" "" "{PMID:Abdullah 2020:32886330}" "" "" "no transcript detected" "Germline" "yes" "" "0" "" "" "g.49430336A>T" "" "pathogenic (recessive)" "" "0000918115" "3" "90" "18" "46690138" "46690138" "dup" "0" "00006" "DYM_000041" "g.46690138dup" "" "{PMID:Varshney 2023:35477554}" "" "1484dup" "" "Germline" "" "" "0" "" "" "g.49163768dup" "" "pathogenic (recessive)" "" "0000918116" "3" "90" "18" "46690138" "46690138" "dup" "0" "00006" "DYM_000041" "g.46690138dup" "" "{PMID:Varshney 2023:35477554}" "" "1484dup" "" "Germline" "" "" "0" "" "" "g.49163768dup" "" "pathogenic (recessive)" "" "0000918117" "3" "50" "18" "46860168" "46860168" "subst" "0" "00006" "DYM_000047" "g.46860168A>G" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49333798A>G" "" "VUS" "" "0000918118" "3" "90" "18" "46906050" "46906050" "subst" "0" "00006" "DYM_000017" "g.46906050G>C" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49379680G>C" "" "pathogenic (recessive)" "" "0000918119" "3" "50" "18" "46808443" "46808443" "subst" "0" "00006" "DYM_000043" "g.46808443A>C" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49282073A>C" "" "VUS" "" "0000918120" "3" "90" "18" "46858278" "46858278" "subst" "4.06342E-6" "00006" "DYM_000045" "g.46858278G>T" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49331908G>T" "" "pathogenic (recessive)" "" "0000918121" "3" "90" "18" "46858278" "46858278" "subst" "4.06342E-6" "00006" "DYM_000045" "g.46858278G>T" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49331908G>T" "" "pathogenic (recessive)" "" "0000918122" "3" "70" "18" "46812803" "46812803" "subst" "0" "00006" "DYM_000025" "g.46812803C>T" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49286433C>T" "" "likely pathogenic (recessive)" "" "0000918123" "3" "90" "18" "46690132" "46690133" "del" "0" "00006" "DYM_000040" "g.46690132_46690133del" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49163762_49163763del" "" "pathogenic (recessive)" "" "0000918124" "3" "90" "18" "46690132" "46690133" "del" "0" "00006" "DYM_000040" "g.46690132_46690133del" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49163762_49163763del" "" "pathogenic (recessive)" "" "0000918125" "3" "90" "18" "46860108" "46860108" "subst" "8.12612E-6" "00006" "DYM_000010" "g.46860108G>A" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49333738G>A" "" "pathogenic (recessive)" "" "0000918126" "3" "70" "18" "46690053" "46690053" "subst" "0" "00006" "DYM_000039" "g.46690053A>G" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49163683A>G" "" "likely pathogenic (recessive)" "" "0000918127" "3" "70" "18" "46690053" "46690053" "subst" "0" "00006" "DYM_000039" "g.46690053A>G" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49163683A>G" "" "likely pathogenic (recessive)" "" "0000918128" "3" "90" "18" "46858289" "46858292" "dup" "0" "00006" "DYM_000046" "g.46858289_46858292dup" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49331919_49331922dup" "" "pathogenic (recessive)" "" "0000918129" "3" "90" "18" "46808532" "46808532" "del" "0" "00006" "DYM_000044" "g.46808532del" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49282162del" "" "pathogenic (recessive)" "" "0000918136" "3" "90" "18" "46858278" "46858278" "subst" "4.06342E-6" "00006" "DYM_000045" "g.46858278G>T" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49331908G>T" "" "pathogenic (recessive)" "" "0000918137" "3" "90" "18" "46784752" "46784752" "subst" "4.0665E-6" "00006" "DYM_000042" "g.46784752G>A" "" "{PMID:Varshney 2023:35477554}" "" "" "" "Germline" "" "" "0" "" "" "g.49258382G>A" "" "pathogenic (recessive)" "" "0000930963" "0" "50" "18" "46645157" "46645157" "subst" "0.00105613" "01804" "DYM_000014" "g.46645157C>T" "" "" "" "DYM(NM_001353214.1):c.1868G>A (p.R623Q), DYM(NM_001353214.3):c.1868G>A (p.(Arg568Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983052" "0" "50" "18" "46619595" "46619595" "subst" "0" "01804" "DYM_000048" "g.46619595C>G" "" "" "" "DYM(NM_001374430.1):c.2112G>C (p.(Leu704Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983053" "0" "30" "18" "46619644" "46619644" "subst" "0" "01804" "DYM_000049" "g.46619644C>T" "" "" "" "DYM(NM_001374430.1):c.2063G>A (p.(Cys688Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983054" "0" "30" "18" "46690066" "46690066" "subst" "0.00180451" "01804" "DYM_000050" "g.46690066G>A" "" "" "" "DYM(NM_001353214.3):c.1717C>T (p.(Leu573=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983055" "0" "50" "18" "46808512" "46808512" "subst" "0.000422616" "01804" "DYM_000051" "g.46808512G>T" "" "" "" "DYM(NM_001353214.3):c.980C>A (p.(Ala327Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983056" "0" "30" "18" "46812901" "46812901" "subst" "0" "01804" "DYM_000052" "g.46812901C>T" "" "" "" "DYM(NM_001353214.3):c.849G>A (p.(Gln283=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042447" "0" "50" "18" "46623794" "46623794" "subst" "6.09583E-5" "01804" "DYM_000053" "g.46623794G>A" "" "" "" "DYM(NM_001353214.3):c.2003C>T (p.(Ala668Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042448" "0" "50" "18" "46736065" "46736065" "subst" "0" "01804" "DYM_000054" "g.46736065C>T" "" "" "" "DYM(NM_001353214.3):c.1481G>A (p.(Arg494Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042449" "0" "50" "18" "46798603" "46798603" "subst" "0.00044816" "01804" "DYM_000055" "g.46798603A>G" "" "" "" "DYM(NM_001353214.3):c.1196T>C (p.(Ile399Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042450" "0" "50" "18" "46812881" "46812881" "subst" "0" "01804" "DYM_000056" "g.46812881A>G" "" "" "" "DYM(NM_001353214.3):c.869T>C (p.(Val290Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042451" "0" "50" "18" "46812905" "46812905" "subst" "0" "01804" "DYM_000057" "g.46812905T>G" "" "" "" "DYM(NM_001353214.3):c.845A>C (p.(Asn282Thr))" "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 DYM ## Count = 85 "{{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}}" "0000267722" "00006788" "30" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Val116Leu)" "" "0000271037" "00006788" "90" "1766" "0" "1766" "0" "c.1766C>G" "r.(?)" "p.(Ser589Ter)" "" "0000325914" "00006788" "50" "535" "0" "535" "0" "c.535A>G" "r.(?)" "p.(Met179Val)" "" "0000348792" "00006788" "50" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Ser184Phe)" "" "0000564944" "00006788" "30" "1902" "0" "1902" "0" "c.1902G>T" "r.(?)" "p.(Gln634His)" "" "0000564946" "00006788" "70" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Ter)" "" "0000564947" "00006788" "30" "500" "0" "500" "0" "c.500T>A" "r.(?)" "p.(Ile167Asn)" "" "0000564948" "00006788" "30" "395" "0" "395" "0" "c.395A>G" "r.(?)" "p.(Tyr132Cys)" "" "0000623857" "00006788" "50" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568Gln)" "" "0000623858" "00006788" "30" "620" "4" "620" "4" "c.620+4T>G" "r.spl?" "p.?" "" "0000649829" "00006788" "70" "1860" "1" "1860" "1" "c.1860+1G>A" "r.spl?" "p.?" "" "0000649830" "00006788" "70" "272" "0" "272" "0" "c.272C>G" "r.(?)" "p.(Ser91*)" "" "0000726901" "00006788" "50" "1987" "0" "1987" "0" "c.1987C>G" "r.(?)" "p.(Leu663Val)" "" "0000726902" "00006788" "30" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Gln593Arg)" "" "0000729905" "00006788" "90" "1920" "0" "1920" "0" "c.1920del" "r.(?)" "p.(Tyr642Metfs*78)" "" "0000729906" "00006788" "90" "239" "0" "246" "0" "c.239_246del" "r.(?)" "p.(Phe81*)" "" "0000729907" "00006788" "90" "1860" "1" "1860" "1" "c.1860+1G>A" "r.spl?" "p.?" "" "0000729908" "00006788" "90" "272" "0" "272" "0" "c.272C>G" "r.(?)" "p.(Ser91*)" "" "0000729909" "00006788" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204*)" "" "0000729910" "00006788" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204*)" "" "0000729911" "00006788" "90" "1365" "3" "1365" "10" "c.1365+3_1365+10del" "r.spl?" "p.?" "" "0000729912" "00006788" "90" "946" "1" "946" "1" "c.946+1G>A" "r.spl?" "p.?" "" "0000729913" "00006788" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428*)" "" "0000729914" "00006788" "90" "1876" "0" "1876" "0" "c.1876del" "r.(?)" "p.(Lys626Asnfs*94)" "" "0000729915" "00006788" "90" "1876" "0" "1876" "0" "c.1876del" "r.(?)" "p.(Lys626Asnfs*94)" "" "0000729916" "00006788" "90" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Trp101*)" "" "0000729917" "00006788" "90" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Trp101*)" "" "0000729918" "00006788" "90" "302" "0" "302" "0" "c.302G>A" "r.(?)" "p.(Trp101*)" "" "0000729919" "00006788" "90" "1876" "0" "1876" "0" "c.1876del" "r.(?)" "p.(Lys626Asnfs*94)" "" "0000730102" "00006788" "90" "1912" "0" "1912" "0" "c.1912dup" "r.(?)" "p.(Ile640Tyrfs*68)" "" "0000760706" "00006788" "90" "1878" "0" "1878" "0" "c.1878del" "r.(?)" "p.(Lys626Asnfs*94)" "17" "0000808504" "00006788" "50" "1852" "0" "1852" "0" "c.1852A>G" "r.(?)" "p.(Arg618Gly)" "" "0000808505" "00006788" "50" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Gln593Arg)" "" "0000808506" "00006788" "50" "422" "0" "422" "0" "c.422G>A" "r.(?)" "p.(Ser141Asn)" "" "0000817743" "00006788" "90" "474" "0" "474" "0" "c.474del" "r.(?)" "p.(Ile159SerfsTer7)" "" "0000817807" "00006788" "90" "1072" "0" "1072" "0" "c.1072C>T" "r.(?)" "p.(Gln358Ter)" "" "0000855316" "00006788" "30" "346" "0" "346" "0" "c.346G>T" "r.(?)" "p.(Val116Leu)" "" "0000865703" "00006788" "50" "1745" "0" "1745" "0" "c.1745T>G" "r.(?)" "p.(Leu582Arg)" "" "0000865703" "00025757" "50" "1910" "0" "1910" "0" "c.1910T>G" "r.(?)" "p.(Leu637Arg)" "" "0000871561" "00006788" "90" "1205" "0" "1205" "0" "c.1205T>A" "r.(?)" "p.(Leu402*)" "11" "0000894576" "00006788" "10" "1749" "0" "1749" "0" "c.1749G>C" "r.(?)" "p.(Val583=)" "" "0000894577" "00006788" "90" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Gln483*)" "" "0000894577" "00025757" "90" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Gln483*)" "" "0000894578" "00006788" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "" "0000894578" "00025757" "90" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Arg70*)" "" "0000900596" "00006788" "90" "59" "0" "59" "0" "c.59T>A" "r.0" "p.0" "" "0000900596" "00025757" "90" "59" "0" "59" "0" "c.59T>A" "r.0" "p.0" "" "0000918115" "00025757" "90" "1485" "0" "1485" "0" "c.1485dup" "r.(?)" "p.(His496ThrfsTer19)" "14" "0000918116" "00025757" "90" "1485" "0" "1485" "0" "c.1485dup" "r.(?)" "p.(His496ThrfsTer19)" "14" "0000918117" "00025757" "50" "550" "0" "550" "0" "c.550T>C" "r.(?)" "p.(Ser184Pro)" "7" "0000918118" "00025757" "90" "272" "0" "272" "0" "c.272C>G" "r.(?)" "p.(Ser91Ter)" "4" "0000918119" "00025757" "50" "1049" "0" "1049" "0" "c.1049T>G" "r.(?)" "p.(Leu350Arg)" "10" "0000918120" "00025757" "90" "719" "0" "719" "0" "c.719C>A" "r.(?)" "p.(Ser240Ter)" "8" "0000918121" "00025757" "90" "719" "0" "719" "0" "c.719C>A" "r.(?)" "p.(Ser240Ter)" "8" "0000918122" "00025757" "70" "946" "1" "946" "1" "c.946+1G>A" "r.spl" "p.?" "9i" "0000918123" "00025757" "90" "1488" "0" "1489" "0" "c.1488_1489del" "r.(?)" "p.(His496GlnfsTer18)" "14" "0000918124" "00025757" "90" "1488" "0" "1489" "0" "c.1488_1489del" "r.(?)" "p.(His496GlnfsTer18)" "14" "0000918125" "00025757" "90" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Ter)" "7" "0000918126" "00025757" "70" "1563" "2" "1563" "2" "c.1563+2T>C" "r.spl" "p.?" "14i" "0000918127" "00025757" "70" "1563" "2" "1563" "2" "c.1563+2T>C" "r.spl" "p.?" "14i" "0000918128" "00025757" "90" "705" "0" "708" "0" "c.705_708dup" "r.(?)" "p.(Pro237PhefsTer82)" "8" "0000918129" "00025757" "90" "963" "0" "963" "0" "c.963del" "r.(?)" "p.(Ser322HisfsTer78)" "10" "0000918136" "00025757" "90" "719" "0" "719" "0" "c.719C>A" "r.(?)" "p.(Ser240Ter)" "8" "0000918137" "00025757" "90" "1363" "0" "1363" "0" "c.1363C>T" "r.(?)" "p.(Arg455Ter)" "12" "0000930963" "00006788" "50" "1703" "0" "1703" "0" "c.1703G>A" "r.(?)" "p.(Arg568Gln)" "" "0000983052" "00006788" "50" "1860" "4177" "1860" "4177" "c.1860+4177G>C" "r.(=)" "p.(=)" "" "0000983052" "00025757" "50" "2025" "4177" "2025" "4177" "c.2025+4177G>C" "r.(=)" "p.(=)" "" "0000983053" "00006788" "30" "1860" "4128" "1860" "4128" "c.1860+4128G>A" "r.(=)" "p.(=)" "" "0000983053" "00025757" "30" "2025" "4128" "2025" "4128" "c.2025+4128G>A" "r.(=)" "p.(=)" "" "0000983054" "00006788" "30" "1552" "0" "1552" "0" "c.1552C>T" "r.(?)" "p.(=)" "" "0000983054" "00025757" "30" "1717" "0" "1717" "0" "c.1717C>T" "r.(?)" "p.(Leu573=)" "" "0000983055" "00006788" "50" "980" "0" "980" "0" "c.980C>A" "r.(?)" "p.(Ala327Asp)" "" "0000983055" "00025757" "50" "980" "0" "980" "0" "c.980C>A" "r.(?)" "p.(Ala327Asp)" "" "0000983056" "00006788" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(=)" "" "0000983056" "00025757" "30" "849" "0" "849" "0" "c.849G>A" "r.(?)" "p.(Gln283=)" "" "0001042447" "00006788" "50" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Ala613Val)" "" "0001042447" "00025757" "50" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Ala668Val)" "" "0001042448" "00006788" "50" "1461" "-45908" "1461" "-45908" "c.1461-45908G>A" "r.(=)" "p.(=)" "" "0001042448" "00025757" "50" "1481" "0" "1481" "0" "c.1481G>A" "r.(?)" "p.(Arg494Gln)" "" "0001042449" "00006788" "50" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Ile399Thr)" "" "0001042449" "00025757" "50" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Ile399Thr)" "" "0001042450" "00006788" "50" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Val290Ala)" "" "0001042450" "00025757" "50" "869" "0" "869" "0" "c.869T>C" "r.(?)" "p.(Val290Ala)" "" "0001042451" "00006788" "50" "845" "0" "845" "0" "c.845A>C" "r.(?)" "p.(Asn282Thr)" "" "0001042451" "00025757" "50" "845" "0" "845" "0" "c.845A>C" "r.(?)" "p.(Asn282Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000293140" "0000649829" "0000293141" "0000649830" "0000332623" "0000729905" "0000332624" "0000729906" "0000332624" "0000730102" "0000332625" "0000729907" "0000332626" "0000729908" "0000332627" "0000729909" "0000332628" "0000729910" "0000332629" "0000729911" "0000332630" "0000729912" "0000332631" "0000729913" "0000332632" "0000729914" "0000332633" "0000729915" "0000332634" "0000729916" "0000332635" "0000729917" "0000332636" "0000729918" "0000332637" "0000729919" "0000360646" "0000760706" "0000388950" "0000817743" "0000389014" "0000817807" "0000413978" "0000871561" "0000424530" "0000900596" "0000432578" "0000918115" "0000432579" "0000918116" "0000432580" "0000918117" "0000432581" "0000918118" "0000432582" "0000918119" "0000432583" "0000918120" "0000432584" "0000918121" "0000432585" "0000918122" "0000432586" "0000918123" "0000432587" "0000918124" "0000432588" "0000918125" "0000432589" "0000918126" "0000432590" "0000918127" "0000432591" "0000918128" "0000432592" "0000918129" "0000432599" "0000918136" "0000432600" "0000918137"