### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYLK2) # 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}}" "MYLK2" "myosin light chain kinase 2" "20" "q13.31" "unknown" "LRG_392" "UD_132118623017" "" "https://www.LOVD.nl/MYLK2" "" "1" "16243" "85366" "606566" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MYLK2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-09-19 10:47:25" "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}}" "00014163" "MYLK2" "myosin light chain kinase 2" "001" "NM_033118.3" "" "NP_149109.1" "" "" "" "-102" "2691" "1791" "30407178" "30422500" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "01596" "CMH1" "cardiomyopathy, hypertrophic, familial, type 1" "AD;DD" "192600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-10-01 20:50:48" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MYLK2" "01596" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00128383" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "79" "00128404" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "108" "00128424" "" "" "" "1" "" "02244" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "stillbirth cohort (290 cases from Sweden)" "F" "" "Sweden" "0" "" "" "" "" "153" "00292901" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292902" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292904" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304849" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317852" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317853" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00418362" "" "" "" "1" "" "00006" "{PMID:Reinstein 2016:27329731}" "" "M" "" "Israel" "" "0" "" "" "Jew-Ashkenazi;Libya" "patient" "00446743" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00128383" "00198" "00128404" "00198" "00128424" "00198" "00292901" "00198" "00292902" "00198" "00292904" "00198" "00304849" "00198" "00317852" "04172" "00317853" "04172" "00418362" "00139" "00446743" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01596, 04172, 04173 ## Count = 7 "{{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}}" "0000100599" "00198" "00128383" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100620" "00198" "00128404" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000100643" "00198" "00128424" "02244" "Unknown" "0d" "" "" "" "" "" "" "" "" "" "" "stillbirth (HP:0003826)" "" "0000241598" "04172" "00317852" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241599" "04172" "00317853" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000309731" "00139" "00418362" "00006" "Isolated (sporadic)" "17y" "see paper; ..., intellectual disability, developmental delay, dysmorphism, non-compaction cardiomyopathy" "" "" "" "" "" "" "" "" "MRXS34" "intellectual disability" "" "0000335947" "04173" "00446743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000129221" "00128383" "1" "02244" "02244" "2017-09-15 15:04:43" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129242" "00128404" "1" "02244" "02244" "2017-09-15 15:50:17" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000129262" "00128424" "1" "02244" "02244" "2017-09-15 16:45:06" "" "" "SEQ-NG" "DNA" "" "HaloPlex gene panel (70 heart genes)" "0000294069" "00292901" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294070" "00292902" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294072" "00292904" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305978" "00304849" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319034" "00317852" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319035" "00317853" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000419657" "00418362" "1" "00006" "00006" "2022-09-28 20:32:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448318" "00446743" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000319034" "MYLK2" "0000319035" "MYLK2" ## 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 = 101 "{{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}}" "0000218353" "0" "50" "20" "30419884" "30419884" "subst" "5.11889E-5" "02244" "MYLK2_000002" "g.30419884G>A" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31832081G>A" "" "VUS" "" "0000218386" "0" "50" "20" "30419931" "30419931" "subst" "0.000147677" "02244" "MYLK2_000003" "g.30419931C>T" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31832128C>T" "" "VUS" "" "0000218410" "0" "50" "20" "30408319" "30408319" "subst" "4.23549E-6" "02244" "MYLK2_000001" "g.30408319A>G" "" "{PMID:Sahlin 2019:30615648}, {DOI:Sahlin 2019:10.1371/journal.pone.0210017}" "" "" "" "Germline" "?" "" "" "" "" "g.31820516A>G" "" "VUS" "" "0000251813" "0" "30" "20" "30407978" "30407978" "subst" "0.0010227" "02326" "MYLK2_000006" "g.30407978A>G" "" "" "" "MYLK2(NM_033118.3):c.102A>G (p.K34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31820175A>G" "" "likely benign" "" "0000252321" "0" "30" "20" "30414596" "30414596" "subst" "1.21876E-5" "02326" "MYLK2_000023" "g.30414596A>G" "" "" "" "MYLK2(NM_033118.3):c.1083-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826793A>G" "" "likely benign" "" "0000296197" "0" "50" "20" "30414454" "30414454" "subst" "3.65464E-5" "02325" "MYLK2_000020" "g.30414454G>A" "" "" "" "MYLK2(NM_033118.4):c.1019G>A (p.(Arg340His), p.R340H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826651G>A" "" "VUS" "" "0000296198" "0" "30" "20" "30414603" "30414603" "subst" "1.62521E-5" "02325" "MYLK2_000024" "g.30414603C>T" "" "" "" "MYLK2(NM_033118.4):c.1086C>T (p.I362=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826800C>T" "" "likely benign" "" "0000296199" "0" "30" "20" "30414640" "30414640" "subst" "8.52826E-5" "02325" "MYLK2_000026" "g.30414640G>A" "" "" "" "MYLK2(NM_033118.4):c.1123G>A (p.D375N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826837G>A" "" "likely benign" "" "0000296200" "0" "50" "20" "30414686" "30414686" "subst" "0" "02325" "MYLK2_000027" "g.30414686T>C" "" "" "" "MYLK2(NM_033118.4):c.1169T>C (p.I390T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826883T>C" "" "VUS" "" "0000296201" "0" "50" "20" "30418650" "30418650" "subst" "9.34428E-5" "02325" "MYLK2_000029" "g.30418650C>T" "" "" "" "MYLK2(NM_033118.4):c.1253C>T (p.T418I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31830847C>T" "" "VUS" "" "0000296202" "0" "30" "20" "30418696" "30418696" "subst" "0.00038216" "02325" "MYLK2_000030" "g.30418696C>A" "" "" "" "MYLK2(NM_033118.3):c.1295+4C>A, MYLK2(NM_033118.4):c.1295+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31830893C>A" "" "likely benign" "" "0000296203" "0" "30" "20" "30418876" "30418876" "subst" "6.49709E-5" "02325" "MYLK2_000031" "g.30418876G>A" "" "" "" "MYLK2(NM_033118.3):c.1356G>A (p.E452=), MYLK2(NM_033118.4):c.1356G>A (p.E452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31831073G>A" "" "likely benign" "" "0000296204" "0" "30" "20" "30418897" "30418897" "subst" "4.06065E-5" "02325" "MYLK2_000032" "g.30418897C>A" "" "" "" "MYLK2(NM_033118.4):c.1377C>A (p.(Ile459=), p.I459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31831094C>A" "" "likely benign" "" "0000296205" "0" "30" "20" "30419813" "30419813" "subst" "0.000821811" "02325" "MYLK2_000034" "g.30419813G>A" "" "" "" "MYLK2(NM_033118.3):c.1584G>A (p.R528=), MYLK2(NM_033118.4):c.1584G>A (p.R528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31832010G>A" "" "likely benign" "" "0000296206" "0" "50" "20" "30407398" "30407398" "subst" "0" "02325" "MYLK2_000005" "g.30407398T>G" "" "" "" "MYLK2(NM_033118.4):c.15T>G (p.N5K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31819595T>G" "" "VUS" "" "0000296207" "0" "50" "20" "30419842" "30419842" "subst" "0" "02325" "MYLK2_000035" "g.30419842C>T" "" "" "" "MYLK2(NM_033118.4):c.1613C>T (p.P538L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31832039C>T" "" "VUS" "" "0000296208" "0" "30" "20" "30419888" "30419888" "subst" "1.27398E-5" "02325" "MYLK2_000036" "g.30419888C>T" "" "" "" "MYLK2(NM_033118.4):c.1659C>T (p.R553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31832085C>T" "" "likely benign" "" "0000296209" "0" "10" "20" "30421514" "30421514" "subst" "0.000859367" "02325" "MYLK2_000038" "g.30421514C>T" "" "" "" "MYLK2(NM_033118.4):c.1711-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31833711C>T" "" "benign" "" "0000296210" "0" "30" "20" "30408049" "30408049" "subst" "0.00187139" "02325" "MYLK2_000007" "g.30408049C>A" "" "" "" "MYLK2(NM_033118.3):c.173C>A (p.A58D), MYLK2(NM_033118.4):c.173C>A (p.A58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31820246C>A" "" "likely benign" "" "0000296211" "0" "30" "20" "30408293" "30408293" "subst" "3.34233E-5" "02325" "MYLK2_000011" "g.30408293C>T" "" "" "" "MYLK2(NM_033118.3):c.417C>T (p.A139=), MYLK2(NM_033118.4):c.417C>T (p.A139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31820490C>T" "" "likely benign" "" "0000296212" "0" "30" "20" "30412169" "30412169" "subst" "0.000731406" "02325" "MYLK2_000019" "g.30412169G>A" "" "" "" "MYLK2(NM_033118.3):c.972+14G>A, MYLK2(NM_033118.4):c.972+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31824366G>A" "" "likely benign" "" "0000299788" "0" "10" "20" "30414503" "30414503" "subst" "0.0114845" "02326" "MYLK2_000021" "g.30414503C>T" "" "" "" "MYLK2(NM_033118.3):c.1068C>T (p.V356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826700C>T" "" "benign" "" "0000299789" "0" "10" "20" "30414528" "30414528" "subst" "0.0204334" "02326" "MYLK2_000022" "g.30414528G>A" "" "" "" "MYLK2(NM_033118.3):c.1082+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826725G>A" "" "benign" "" "0000299790" "0" "10" "20" "30414621" "30414621" "subst" "0.0209286" "02326" "MYLK2_000025" "g.30414621C>T" "" "" "" "MYLK2(NM_033118.3):c.1104C>T (p.F368=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31826818C>T" "" "benign" "" "0000299791" "0" "30" "20" "30418609" "30418609" "subst" "4.06699E-6" "02326" "MYLK2_000028" "g.30418609C>G" "" "" "" "MYLK2(NM_033118.3):c.1225-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31830806C>G" "" "likely benign" "" "0000299792" "0" "30" "20" "30418696" "30418696" "subst" "0.00038216" "02326" "MYLK2_000030" "g.30418696C>A" "" "" "" "MYLK2(NM_033118.3):c.1295+4C>A, MYLK2(NM_033118.4):c.1295+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31830893C>A" "" "likely benign" "" "0000299793" "0" "30" "20" "30418876" "30418876" "subst" "6.49709E-5" "02326" "MYLK2_000031" "g.30418876G>A" "" "" "" "MYLK2(NM_033118.3):c.1356G>A (p.E452=), MYLK2(NM_033118.4):c.1356G>A (p.E452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31831073G>A" "" "likely benign" "" "0000299794" "0" "30" "20" "30419539" "30419539" "subst" "0.000381701" "02326" "MYLK2_000033" "g.30419539T>C" "" "" "" "MYLK2(NM_033118.3):c.1458T>C (p.D486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31831736T>C" "" "likely benign" "" "0000299795" "0" "10" "20" "30421500" "30421500" "subst" "0.00104489" "02326" "MYLK2_000037" "g.30421500C>G" "" "" "" "MYLK2(NM_033118.3):c.1711-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31833697C>G" "" "benign" "" "0000299796" "0" "30" "20" "30421587" "30421587" "subst" "8.97886E-5" "02326" "MYLK2_000039" "g.30421587C>T" "" "" "" "MYLK2(NM_033118.3):c.1778C>T (p.A593V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31833784C>T" "" "likely benign" "" "0000299797" "0" "50" "20" "30408120" "30408121" "del" "4.09789E-6" "02326" "MYLK2_000008" "g.30408120_30408121del" "" "" "" "MYLK2(NM_033118.3):c.244_245delAG (p.R82Gfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31820317_31820318del" "" "VUS" "" "0000299798" "0" "10" "20" "30408142" "30408142" "subst" "0.00305156" "02326" "MYLK2_000009" "g.30408142G>A" "" "" "" "MYLK2(NM_033118.3):c.266G>A (p.G89D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31820339G>A" "" "benign" "" "0000299799" "0" "30" "20" "30408160" "30408160" "subst" "0.000560183" "02326" "MYLK2_000010" "g.30408160C>A" "" "" "" "MYLK2(NM_033118.3):c.284C>A (p.A95E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31820357C>A" "" "likely benign" "" "0000299800" "0" "30" "20" "30408301" "30408301" "subst" "8.82353E-5" "02326" "MYLK2_000012" "g.30408301G>T" "" "" "" "MYLK2(NM_033118.3):c.425G>T (p.G142V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31820498G>T" "" "likely benign" "" "0000299801" "0" "10" "20" "30408306" "30408306" "subst" "0.0140288" "02326" "MYLK2_000013" "g.30408306C>G" "" "" "" "MYLK2(NM_033118.3):c.430C>G (p.P144A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31820503C>G" "" "benign" "" "0000299802" "0" "30" "20" "30407387" "30407387" "subst" "0.000838229" "02326" "MYLK2_000004" "g.30407387G>A" "" "" "" "MYLK2(NM_033118.3):c.4G>A (p.A2T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31819584G>A" "" "likely benign" "" "0000299803" "0" "30" "20" "30409276" "30409276" "subst" "0.00036175" "02326" "MYLK2_000014" "g.30409276G>A" "" "" "" "MYLK2(NM_033118.3):c.508G>A (p.E170K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31821473G>A" "" "likely benign" "" "0000299804" "0" "30" "20" "30409401" "30409401" "subst" "1.21841E-5" "02326" "MYLK2_000015" "g.30409401C>T" "" "" "" "MYLK2(NM_033118.3):c.633C>T (p.T211=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31821598C>T" "" "likely benign" "" "0000299805" "0" "10" "20" "30409452" "30409452" "subst" "0.0650244" "02326" "MYLK2_000016" "g.30409452T>C" "" "" "" "MYLK2(NM_033118.3):c.684T>C (p.I228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31821649T>C" "" "benign" "" "0000299806" "0" "30" "20" "30411341" "30411341" "subst" "0.000268288" "02326" "MYLK2_000017" "g.30411341T>A" "" "" "" "MYLK2(NM_033118.3):c.834T>A (p.N278K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31823538T>A" "" "likely benign" "" "0000299807" "0" "10" "20" "30412101" "30412101" "subst" "0.0105857" "02326" "MYLK2_000018" "g.30412101C>T" "" "" "" "MYLK2(NM_033118.3):c.918C>T (p.A306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31824298C>T" "" "benign" "" "0000299808" "0" "30" "20" "30412169" "30412169" "subst" "0.000731406" "02326" "MYLK2_000019" "g.30412169G>A" "" "" "" "MYLK2(NM_033118.3):c.972+14G>A, MYLK2(NM_033118.4):c.972+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.31824366G>A" "" "likely benign" "" "0000569299" "0" "30" "20" "30407404" "30407404" "subst" "1.34106E-5" "01943" "MYLK2_000040" "g.30407404A>G" "" "" "" "MYLK2(NM_033118.3):c.21A>G (p.A7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31819601A>G" "" "likely benign" "" "0000569300" "0" "50" "20" "30407434" "30407434" "subst" "0" "02326" "MYLK2_000041" "g.30407434A>G" "" "" "" "MYLK2(NM_033118.3):c.51A>G (p.T17=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31819631A>G" "" "VUS" "" "0000569301" "0" "30" "20" "30408049" "30408049" "subst" "0.00187139" "01943" "MYLK2_000007" "g.30408049C>A" "" "" "" "MYLK2(NM_033118.3):c.173C>A (p.A58D), MYLK2(NM_033118.4):c.173C>A (p.A58D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820246C>A" "" "likely benign" "" "0000569302" "0" "30" "20" "30408136" "30408136" "subst" "0.000156235" "02326" "MYLK2_000042" "g.30408136C>T" "" "" "" "MYLK2(NM_033118.3):c.260C>T (p.A87V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820333C>T" "" "likely benign" "" "0000569303" "0" "30" "20" "30408160" "30408160" "subst" "0.000560183" "01943" "MYLK2_000010" "g.30408160C>A" "" "" "" "MYLK2(NM_033118.3):c.284C>A (p.A95E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820357C>A" "" "likely benign" "" "0000569304" "0" "30" "20" "30408207" "30408207" "subst" "0.000172133" "01943" "MYLK2_000043" "g.30408207C>T" "" "" "" "MYLK2(NM_033118.3):c.331C>T (p.P111S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820404C>T" "" "likely benign" "" "0000569305" "0" "30" "20" "30408293" "30408293" "subst" "3.34233E-5" "02326" "MYLK2_000011" "g.30408293C>T" "" "" "" "MYLK2(NM_033118.3):c.417C>T (p.A139=), MYLK2(NM_033118.4):c.417C>T (p.A139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820490C>T" "" "likely benign" "" "0000569306" "0" "30" "20" "30409554" "30409554" "subst" "0" "02326" "MYLK2_000044" "g.30409554A>T" "" "" "" "MYLK2(NM_033118.3):c.772+14A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31821751A>T" "" "likely benign" "" "0000569307" "0" "50" "20" "30411341" "30411341" "subst" "0.000268288" "01943" "MYLK2_000017" "g.30411341T>A" "" "" "" "MYLK2(NM_033118.3):c.834T>A (p.N278K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31823538T>A" "" "VUS" "" "0000569308" "0" "30" "20" "30414482" "30414482" "subst" "3.2486E-5" "02326" "MYLK2_000045" "g.30414482C>T" "" "" "" "MYLK2(NM_033118.3):c.1047C>T (p.I349=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826679C>T" "" "likely benign" "" "0000569309" "0" "50" "20" "30414513" "30414513" "del" "0" "01943" "MYLK2_000046" "g.30414513del" "" "" "" "MYLK2(NM_033118.3):c.1078delG (p.E360Sfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826710del" "" "VUS" "" "0000569310" "0" "30" "20" "30418696" "30418696" "subst" "0.00038216" "01943" "MYLK2_000030" "g.30418696C>A" "" "" "" "MYLK2(NM_033118.3):c.1295+4C>A, MYLK2(NM_033118.4):c.1295+4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31830893C>A" "" "likely benign" "" "0000569311" "0" "30" "20" "30419539" "30419539" "subst" "0.000381701" "01943" "MYLK2_000033" "g.30419539T>C" "" "" "" "MYLK2(NM_033118.3):c.1458T>C (p.D486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31831736T>C" "" "likely benign" "" "0000569312" "0" "30" "20" "30419813" "30419813" "subst" "0.000821811" "01943" "MYLK2_000034" "g.30419813G>A" "" "" "" "MYLK2(NM_033118.3):c.1584G>A (p.R528=), MYLK2(NM_033118.4):c.1584G>A (p.R528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31832010G>A" "" "likely benign" "" "0000569313" "0" "50" "20" "30419931" "30419931" "subst" "0.000147677" "01943" "MYLK2_000003" "g.30419931C>T" "" "" "" "MYLK2(NM_033118.3):c.1702C>T (p.R568C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31832128C>T" "" "VUS" "" "0000569314" "0" "10" "20" "30419954" "30419954" "subst" "0.0631002" "02326" "MYLK2_000047" "g.30419954A>G" "" "" "" "MYLK2(NM_033118.3):c.1710+15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31832151A>G" "" "benign" "" "0000569315" "0" "30" "20" "30421599" "30421599" "subst" "4.09068E-6" "02326" "MYLK2_000048" "g.30421599G>A" "" "" "" "MYLK2(NM_033118.3):c.1790G>A (p.*597=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31833796G>A" "" "likely benign" "" "0000618015" "0" "30" "20" "30407387" "30407387" "subst" "0.000838229" "02327" "MYLK2_000004" "g.30407387G>A" "" "" "" "MYLK2(NM_033118.3):c.4G>A (p.A2T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31819584G>A" "" "likely benign" "" "0000618016" "0" "30" "20" "30407946" "30407946" "subst" "0" "01943" "MYLK2_000049" "g.30407946C>T" "" "" "" "MYLK2(NM_033118.3):c.70C>T (p.P24S, p.(Pro24Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820143C>T" "" "likely benign" "" "0000618017" "0" "30" "20" "30408160" "30408160" "subst" "0.000560183" "02327" "MYLK2_000010" "g.30408160C>A" "" "" "" "MYLK2(NM_033118.3):c.284C>A (p.A95E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820357C>A" "" "likely benign" "" "0000618018" "0" "30" "20" "30408293" "30408293" "subst" "3.34233E-5" "02327" "MYLK2_000011" "g.30408293C>T" "" "" "" "MYLK2(NM_033118.3):c.417C>T (p.A139=), MYLK2(NM_033118.4):c.417C>T (p.A139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820490C>T" "" "likely benign" "" "0000618019" "0" "10" "20" "30408306" "30408306" "subst" "0.0140288" "02327" "MYLK2_000013" "g.30408306C>G" "" "" "" "MYLK2(NM_033118.3):c.430C>G (p.P144A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820503C>G" "" "benign" "" "0000618020" "0" "30" "20" "30408339" "30408339" "subst" "5.98004E-5" "02327" "MYLK2_000051" "g.30408339A>T" "" "" "" "MYLK2(NM_033118.3):c.463A>T (p.I155F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820536A>T" "" "likely benign" "" "0000618021" "0" "50" "20" "30409483" "30409483" "subst" "8.13656E-6" "02327" "MYLK2_000053" "g.30409483G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31821680G>A" "" "VUS" "" "0000618022" "0" "10" "20" "30412101" "30412101" "subst" "0.0105857" "02327" "MYLK2_000018" "g.30412101C>T" "" "" "" "MYLK2(NM_033118.3):c.918C>T (p.A306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31824298C>T" "" "benign" "" "0000618024" "0" "30" "20" "30414528" "30414528" "subst" "0.0204334" "02327" "MYLK2_000022" "g.30414528G>A" "" "" "" "MYLK2(NM_033118.3):c.1082+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826725G>A" "" "likely benign" "" "0000618025" "0" "50" "20" "30414640" "30414640" "subst" "8.52826E-5" "02327" "MYLK2_000026" "g.30414640G>A" "" "" "" "MYLK2(NM_033118.4):c.1123G>A (p.D375N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826837G>A" "" "VUS" "" "0000618026" "0" "30" "20" "30418828" "30418828" "subst" "0.000117766" "01943" "MYLK2_000055" "g.30418828C>T" "" "" "" "MYLK2(NM_033118.3):c.1308C>T (p.N436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31831025C>T" "" "likely benign" "" "0000618027" "0" "30" "20" "30418828" "30418828" "subst" "0.000117766" "02327" "MYLK2_000055" "g.30418828C>T" "" "" "" "MYLK2(NM_033118.3):c.1308C>T (p.N436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31831025C>T" "" "likely benign" "" "0000618028" "0" "30" "20" "30418876" "30418876" "subst" "6.49709E-5" "02327" "MYLK2_000031" "g.30418876G>A" "" "" "" "MYLK2(NM_033118.3):c.1356G>A (p.E452=), MYLK2(NM_033118.4):c.1356G>A (p.E452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31831073G>A" "" "likely benign" "" "0000618029" "0" "30" "20" "30419947" "30419947" "subst" "0" "01943" "MYLK2_000056" "g.30419947T>C" "" "" "" "MYLK2(NM_033118.3):c.1710+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31832144T>C" "" "likely benign" "" "0000624136" "0" "30" "20" "30408067" "30408067" "subst" "4.06997E-5" "02326" "MYLK2_000050" "g.30408067G>C" "" "" "" "MYLK2(NM_033118.3):c.191G>C (p.G64A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820264G>C" "" "likely benign" "" "0000624137" "0" "50" "20" "30409462" "30409462" "del" "0" "02325" "MYLK2_000052" "g.30409462del" "" "" "" "MYLK2(NM_033118.4):c.694delG (p.A232Lfs*43)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31821659del" "" "VUS" "" "0000650758" "1" "50" "20" "30407387" "30407387" "subst" "0.000838229" "03575" "MYLK2_000004" "g.30407387G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs117502839}" "Germline" "" "rs117502839" "0" "" "" "g.31819584G>A" "" "VUS" "" "0000650759" "1" "30" "20" "30408160" "30408160" "subst" "0.000560183" "03575" "MYLK2_000010" "g.30408160C>A" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs121908108}" "Germline" "" "rs121908108" "0" "" "" "g.31820357C>A" "" "likely benign" "" "0000650761" "1" "30" "20" "30414721" "30414721" "subst" "0.000377736" "03575" "MYLK2_000057" "g.30414721G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs779637525}" "Germline" "" "rs779637525" "0" "" "" "g.31826918G>T" "" "likely benign" "" "0000658734" "0" "50" "20" "30408339" "30408339" "subst" "5.98004E-5" "02326" "MYLK2_000051" "g.30408339A>T" "" "" "" "MYLK2(NM_033118.3):c.463A>T (p.I155F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31820536A>T" "" "VUS" "" "0000658735" "0" "30" "20" "30411290" "30411290" "subst" "0.000114489" "01943" "MYLK2_000058" "g.30411290G>A" "" "" "" "MYLK2(NM_033118.3):c.783G>A (p.P261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31823487G>A" "" "likely benign" "" "0000658736" "0" "30" "20" "30414749" "30414749" "subst" "0.000556816" "01943" "MYLK2_000059" "g.30414749A>C" "" "" "" "MYLK2(NM_033118.3):c.1224+8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31826946A>C" "" "likely benign" "" "0000658737" "0" "30" "20" "30419954" "30419954" "subst" "0" "02326" "MYLK2_000060" "g.30419954A>T" "" "" "" "MYLK2(NM_033118.3):c.1710+15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.31832151A>T" "" "likely benign" "" "0000669666" "3" "30" "20" "30414621" "30414621" "subst" "0.0209286" "03575" "MYLK2_000025" "g.30414621C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs6089088}" "Germline" "" "rs6089088" "0" "" "" "g.31826818C>T" "" "likely benign" "" "0000681577" "0" "50" "20" "30414451" "30414451" "subst" "0" "02326" "MYLK2_000061" "g.30414451A>G" "" "" "" "MYLK2(NM_033118.3):c.1016A>G (p.H339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681578" "0" "30" "20" "30418876" "30418876" "subst" "6.49709E-5" "01943" "MYLK2_000031" "g.30418876G>A" "" "" "" "MYLK2(NM_033118.3):c.1356G>A (p.E452=), MYLK2(NM_033118.4):c.1356G>A (p.E452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681579" "0" "30" "20" "30419614" "30419614" "subst" "1.62425E-5" "02326" "MYLK2_000062" "g.30419614C>T" "" "" "" "MYLK2(NM_033118.3):c.1533C>T (p.D511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701640" "0" "50" "20" "30408153" "30408153" "subst" "2.06043E-5" "00006" "MYLK2_000063" "g.30408153C>A" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "" "Germline" "" "" "0" "" "" "g.31820350C>A" "" "VUS" "" "0000701641" "0" "50" "20" "30414640" "30414640" "subst" "8.52826E-5" "00006" "MYLK2_000026" "g.30414640G>A" "1/121 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.31826837G>A" "" "VUS" "" "0000727635" "0" "30" "20" "30409276" "30409276" "subst" "0.00036175" "01943" "MYLK2_000014" "g.30409276G>A" "" "" "" "MYLK2(NM_033118.3):c.508G>A (p.E170K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727636" "0" "30" "20" "30419885" "30419885" "subst" "4.25127E-6" "01943" "MYLK2_000064" "g.30419885A>T" "" "" "" "MYLK2(NM_033118.3):c.1656A>T (p.R552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809192" "0" "50" "20" "30414508" "30414519" "del" "0" "02325" "MYLK2_000065" "g.30414508_30414519del" "" "" "" "MYLK2(NM_033118.4):c.1071_1082delGTTCATGGAGTA (p.F358_Y361del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809193" "0" "30" "20" "30419813" "30419813" "subst" "0.000821811" "02326" "MYLK2_000034" "g.30419813G>A" "" "" "" "MYLK2(NM_033118.3):c.1584G>A (p.R528=), MYLK2(NM_033118.4):c.1584G>A (p.R528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000879764" "21" "50" "20" "30419580" "30419580" "subst" "4.06055E-6" "00006" "MYLK2_000066" "g.30419580A>G" "" "{PMID:Reinstein 2016:27329731}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000895253" "0" "50" "20" "30414495" "30414495" "subst" "0" "02325" "MYLK2_000067" "g.30414495G>T" "" "" "" "MYLK2(NM_033118.4):c.1060G>T (p.E354*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915351" "0" "50" "20" "30411289" "30411289" "subst" "0" "02327" "MYLK2_000068" "g.30411289C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915352" "0" "50" "20" "30419846" "30419846" "subst" "0" "02327" "MYLK2_000069" "g.30419846G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000957880" "0" "70" "20" "30419883" "30419883" "subst" "0" "00006" "MYLK2_000070" "g.30419883C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.31832080C>T" "" "likely pathogenic" "" "0001005310" "0" "30" "20" "30407946" "30407946" "subst" "0" "01804" "MYLK2_000049" "g.30407946C>T" "" "" "" "MYLK2(NM_033118.3):c.70C>T (p.P24S, p.(Pro24Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016255" "0" "50" "20" "30419532" "30419532" "subst" "3.24857E-5" "03779" "MYLK2_000071" "g.30419532G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs781515957" "0" "" "" "" "" "VUS" "" "0001043295" "0" "30" "20" "30418897" "30418897" "subst" "4.06065E-5" "01804" "MYLK2_000032" "g.30418897C>A" "" "" "" "MYLK2(NM_033118.4):c.1377C>A (p.(Ile459=), p.I459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056865" "0" "50" "20" "30414454" "30414454" "subst" "3.65464E-5" "01804" "MYLK2_000020" "g.30414454G>A" "" "" "" "MYLK2(NM_033118.4):c.1019G>A (p.(Arg340His), p.R340H)" "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 MYLK2 ## Count = 101 "{{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}}" "0000218353" "00014163" "50" "1655" "0" "1655" "0" "c.1655G>A" "r.(?)" "p.(Arg552Gln)" "" "0000218386" "00014163" "50" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Arg568Cys)" "" "0000218410" "00014163" "50" "443" "0" "443" "0" "c.443A>G" "r.(?)" "p.(His148Arg)" "" "0000251813" "00014163" "30" "102" "0" "102" "0" "c.102A>G" "r.(?)" "p.(Lys34=)" "" "0000252321" "00014163" "30" "1083" "-4" "1083" "-4" "c.1083-4A>G" "r.spl?" "p.?" "" "0000296197" "00014163" "50" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "" "0000296198" "00014163" "30" "1086" "0" "1086" "0" "c.1086C>T" "r.(?)" "p.(Ile362=)" "" "0000296199" "00014163" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Asp375Asn)" "" "0000296200" "00014163" "50" "1169" "0" "1169" "0" "c.1169T>C" "r.(?)" "p.(Ile390Thr)" "" "0000296201" "00014163" "50" "1253" "0" "1253" "0" "c.1253C>T" "r.(?)" "p.(Thr418Ile)" "" "0000296202" "00014163" "30" "1295" "4" "1295" "4" "c.1295+4C>A" "r.spl?" "p.?" "" "0000296203" "00014163" "30" "1356" "0" "1356" "0" "c.1356G>A" "r.(?)" "p.(Glu452=)" "" "0000296204" "00014163" "30" "1377" "0" "1377" "0" "c.1377C>A" "r.(?)" "p.(Ile459=)" "" "0000296205" "00014163" "30" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Arg528=)" "" "0000296206" "00014163" "50" "15" "0" "15" "0" "c.15T>G" "r.(?)" "p.(Asn5Lys)" "" "0000296207" "00014163" "50" "1613" "0" "1613" "0" "c.1613C>T" "r.(?)" "p.(Pro538Leu)" "" "0000296208" "00014163" "30" "1659" "0" "1659" "0" "c.1659C>T" "r.(?)" "p.(Arg553=)" "" "0000296209" "00014163" "10" "1711" "-6" "1711" "-6" "c.1711-6C>T" "r.(=)" "p.(=)" "" "0000296210" "00014163" "30" "173" "0" "173" "0" "c.173C>A" "r.(?)" "p.(Ala58Asp)" "" "0000296211" "00014163" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Ala139=)" "" "0000296212" "00014163" "30" "972" "14" "972" "14" "c.972+14G>A" "r.(=)" "p.(=)" "" "0000299788" "00014163" "10" "1068" "0" "1068" "0" "c.1068C>T" "r.(?)" "p.(Val356=)" "" "0000299789" "00014163" "10" "1082" "11" "1082" "11" "c.1082+11G>A" "r.(=)" "p.(=)" "" "0000299790" "00014163" "10" "1104" "0" "1104" "0" "c.1104C>T" "r.(?)" "p.(Phe368=)" "" "0000299791" "00014163" "30" "1225" "-13" "1225" "-13" "c.1225-13C>G" "r.(=)" "p.(=)" "" "0000299792" "00014163" "30" "1295" "4" "1295" "4" "c.1295+4C>A" "r.spl?" "p.?" "" "0000299793" "00014163" "30" "1356" "0" "1356" "0" "c.1356G>A" "r.(?)" "p.(Glu452=)" "" "0000299794" "00014163" "30" "1458" "0" "1458" "0" "c.1458T>C" "r.(?)" "p.(Asp486=)" "" "0000299795" "00014163" "10" "1711" "-20" "1711" "-20" "c.1711-20C>G" "r.(=)" "p.(=)" "" "0000299796" "00014163" "30" "1778" "0" "1778" "0" "c.1778C>T" "r.(?)" "p.(Ala593Val)" "" "0000299797" "00014163" "50" "244" "0" "245" "0" "c.244_245del" "r.(?)" "p.(Arg82GlyfsTer23)" "" "0000299798" "00014163" "10" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Gly89Asp)" "" "0000299799" "00014163" "30" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Ala95Glu)" "" "0000299800" "00014163" "30" "425" "0" "425" "0" "c.425G>T" "r.(?)" "p.(Gly142Val)" "" "0000299801" "00014163" "10" "430" "0" "430" "0" "c.430C>G" "r.(?)" "p.(Pro144Ala)" "" "0000299802" "00014163" "30" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Ala2Thr)" "" "0000299803" "00014163" "30" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Glu170Lys)" "" "0000299804" "00014163" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(Thr211=)" "" "0000299805" "00014163" "10" "684" "0" "684" "0" "c.684T>C" "r.(?)" "p.(Ile228=)" "" "0000299806" "00014163" "30" "834" "0" "834" "0" "c.834T>A" "r.(?)" "p.(Asn278Lys)" "" "0000299807" "00014163" "10" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Ala306=)" "" "0000299808" "00014163" "30" "972" "14" "972" "14" "c.972+14G>A" "r.(=)" "p.(=)" "" "0000569299" "00014163" "30" "21" "0" "21" "0" "c.21A>G" "r.(?)" "p.(Ala7=)" "" "0000569300" "00014163" "50" "51" "0" "51" "0" "c.51A>G" "r.(?)" "p.(Thr17=)" "" "0000569301" "00014163" "30" "173" "0" "173" "0" "c.173C>A" "r.(?)" "p.(Ala58Asp)" "" "0000569302" "00014163" "30" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Ala87Val)" "" "0000569303" "00014163" "30" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Ala95Glu)" "" "0000569304" "00014163" "30" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Pro111Ser)" "" "0000569305" "00014163" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Ala139=)" "" "0000569306" "00014163" "30" "772" "14" "772" "14" "c.772+14A>T" "r.(=)" "p.(=)" "" "0000569307" "00014163" "50" "834" "0" "834" "0" "c.834T>A" "r.(?)" "p.(Asn278Lys)" "" "0000569308" "00014163" "30" "1047" "0" "1047" "0" "c.1047C>T" "r.(?)" "p.(Ile349=)" "" "0000569309" "00014163" "50" "1078" "0" "1078" "0" "c.1078del" "r.(?)" "p.(Glu360SerfsTer19)" "" "0000569310" "00014163" "30" "1295" "4" "1295" "4" "c.1295+4C>A" "r.spl?" "p.?" "" "0000569311" "00014163" "30" "1458" "0" "1458" "0" "c.1458T>C" "r.(?)" "p.(Asp486=)" "" "0000569312" "00014163" "30" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Arg528=)" "" "0000569313" "00014163" "50" "1702" "0" "1702" "0" "c.1702C>T" "r.(?)" "p.(Arg568Cys)" "" "0000569314" "00014163" "10" "1710" "15" "1710" "15" "c.1710+15A>G" "r.(=)" "p.(=)" "" "0000569315" "00014163" "30" "1790" "0" "1790" "0" "c.1790G>A" "r.(?)" "p.(Ter597=)" "" "0000618015" "00014163" "30" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Ala2Thr)" "" "0000618016" "00014163" "30" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Pro24Ser)" "" "0000618017" "00014163" "30" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Ala95Glu)" "" "0000618018" "00014163" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Ala139=)" "" "0000618019" "00014163" "10" "430" "0" "430" "0" "c.430C>G" "r.(?)" "p.(Pro144Ala)" "" "0000618020" "00014163" "30" "463" "0" "463" "0" "c.463A>T" "r.(?)" "p.(Ile155Phe)" "" "0000618021" "00014163" "50" "715" "0" "715" "0" "c.715G>A" "r.(?)" "p.(Glu239Lys)" "" "0000618022" "00014163" "10" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Ala306=)" "" "0000618024" "00014163" "30" "1082" "11" "1082" "11" "c.1082+11G>A" "r.(=)" "p.(=)" "" "0000618025" "00014163" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Asp375Asn)" "" "0000618026" "00014163" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(Asn436=)" "" "0000618027" "00014163" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(Asn436=)" "" "0000618028" "00014163" "30" "1356" "0" "1356" "0" "c.1356G>A" "r.(?)" "p.(Glu452=)" "" "0000618029" "00014163" "30" "1710" "8" "1710" "8" "c.1710+8T>C" "r.(=)" "p.(=)" "" "0000624136" "00014163" "30" "191" "0" "191" "0" "c.191G>C" "r.(?)" "p.(Gly64Ala)" "" "0000624137" "00014163" "50" "694" "0" "694" "0" "c.694del" "r.(?)" "p.(Ala232LeufsTer43)" "" "0000650758" "00014163" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Ala2Thr)" "" "0000650759" "00014163" "30" "284" "0" "284" "0" "c.284C>A" "r.(?)" "p.(Ala95Glu)" "" "0000650761" "00014163" "30" "1204" "0" "1204" "0" "c.1204G>T" "r.(?)" "p.(Val402Phe)" "" "0000658734" "00014163" "50" "463" "0" "463" "0" "c.463A>T" "r.(?)" "p.(Ile155Phe)" "" "0000658735" "00014163" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000658736" "00014163" "30" "1224" "8" "1224" "8" "c.1224+8A>C" "r.(=)" "p.(=)" "" "0000658737" "00014163" "30" "1710" "15" "1710" "15" "c.1710+15A>T" "r.(=)" "p.(=)" "" "0000669666" "00014163" "30" "1104" "0" "1104" "0" "c.1104C>T" "r.(=)" "p.(=)" "" "0000681577" "00014163" "50" "1016" "0" "1016" "0" "c.1016A>G" "r.(?)" "p.(His339Arg)" "" "0000681578" "00014163" "30" "1356" "0" "1356" "0" "c.1356G>A" "r.(?)" "p.(Glu452=)" "" "0000681579" "00014163" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(Asp511=)" "" "0000701640" "00014163" "50" "277" "0" "277" "0" "c.277C>A" "r.(?)" "p.(Pro93Thr)" "" "0000701641" "00014163" "50" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Asp375Asn)" "" "0000727635" "00014163" "30" "508" "0" "508" "0" "c.508G>A" "r.(?)" "p.(Glu170Lys)" "" "0000727636" "00014163" "30" "1656" "0" "1656" "0" "c.1656A>T" "r.(?)" "p.(Arg552=)" "" "0000809192" "00014163" "50" "1073" "0" "1082" "2" "c.1073_1082+2del" "r.spl?" "p.?" "" "0000809193" "00014163" "30" "1584" "0" "1584" "0" "c.1584G>A" "r.(?)" "p.(Arg528=)" "" "0000879764" "00014163" "50" "1499" "0" "1499" "0" "c.1499A>G" "r.(?)" "p.(Tyr500Cys)" "" "0000895253" "00014163" "50" "1060" "0" "1060" "0" "c.1060G>T" "r.(?)" "p.(Glu354*)" "" "0000915351" "00014163" "50" "782" "0" "782" "0" "c.782C>G" "r.(?)" "p.(Pro261Arg)" "" "0000915352" "00014163" "50" "1617" "0" "1617" "0" "c.1617G>A" "r.(?)" "p.(Trp539*)" "" "0000957880" "00014163" "70" "1654" "0" "1654" "0" "c.1654C>T" "r.(?)" "p.(Arg552Ter)" "" "0001005310" "00014163" "30" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Pro24Ser)" "" "0001016255" "00014163" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Gly484Glu)" "" "0001043295" "00014163" "30" "1377" "0" "1377" "0" "c.1377C>A" "r.(?)" "p.(Ile459=)" "" "0001056865" "00014163" "50" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Arg340His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000129221" "0000218353" "0000129242" "0000218386" "0000129262" "0000218410" "0000294069" "0000650758" "0000294070" "0000650759" "0000294072" "0000650761" "0000305978" "0000669666" "0000319034" "0000701640" "0000319035" "0000701641" "0000419657" "0000879764" "0000448318" "0000957880"