### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYBPC1) # 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}}" "MYBPC1" "myosin binding protein C, slow type" "12" "q23.2" "unknown" "NG_031912.1" "UD_136018090308" "" "https://www.LOVD.nl/MYBPC1" "" "1" "7549" "4604" "160794" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/MYBPC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-02-06 00:00:00" "00006" "2017-07-04 21:06:54" "00000" "2025-07-08 13:22:38" ## 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}}" "00024286" "MYBPC1" "transcript variant 1" "001" "NM_002465.3" "" "NP_002456.2" "" "" "" "-140" "3834" "3516" "101988709" "102079658" "00006" "2017-07-04 21:05:26" "" "" ## 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}}" "00026" "arthrogryposis" "arthrogryposis" "" "" "" "" "" "00001" "2012-08-03 16:49:36" "00006" "2019-01-04 15:23:51" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03609" "DA1B" "arthrogryposis, distal, type 1B (DA-1B)" "AD" "614335" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03787" "LCCS4" "contracture syndrome, lethal, congenital, type 4 (LCCS-4)" "AR" "614915" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06201" "MYOTREM" "Myopathy, congenital, with tremor" "AD" "618524" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MYBPC1" "03609" "MYBPC1" "03787" "MYBPC1" "06201" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00107913" "" "" "" "1" "" "02074" "" "" "M" "yes" "Israel" "" "0" "" "" "Bedouin" "" "00290569" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290570" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00442606" "" "" "" "1" "" "04545" "{PMID:Iyer 2024:38438057}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Czech Republic" "" "0" "" "" "" "FamPatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00107913" "03787" "00290569" "00198" "00290570" "00198" "00442606" "00026" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 03609, 03787, 06201 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000085667" "03787" "00107913" "02074" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000333031" "00026" "00442606" "04545" "Familial, autosomal recessive" "0y-10y" "HP:0001371, HP:0003121, HP:0100360, HP:0005750, HP:0009473, HP:0001220, HP:0034671, HP:0003273, HP:0000508, HP:0001561" "00y" "" "0y" "" "" "" "" "" "Distal arthrogryposis type I" "Distal arthrogryposis type I" "" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108382" "00107913" "1" "02074" "02074" "2012-03-31 17:41:48" "" "" "PCRdig;SEQ-NG-I" "DNA" "" "" "0000291737" "00290569" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291738" "00290570" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000445251" "00442606" "1" "04545" "04545" "2023-12-01 09:55:13" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000108382" "MYBPC1" "0000445251" "MYBPC1" ## 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 = 56 "{{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}}" "0000174308" "3" "90" "12" "102038561" "102038561" "subst" "4.07173E-6" "02074" "MYBPC1_000001" "g.102038561C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.101644783C>T" "" "pathogenic" "" "0000247103" "0" "10" "12" "102045031" "102045031" "subst" "0.0539008" "02330" "MYBPC1_000008" "g.102045031A>T" "" "" "" "MYBPC1(NM_002465.4):c.1386A>T (p.T462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101651253A>T" "" "benign" "" "0000247104" "0" "10" "12" "102069077" "102069077" "subst" "0.223744" "02330" "MYBPC1_000012" "g.102069077A>G" "" "" "" "MYBPC1(NM_002465.4):c.2817A>G (p.P939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101675299A>G" "" "benign" "" "0000247134" "0" "10" "12" "102028392" "102028392" "subst" "0.00412877" "02330" "MYBPC1_000014" "g.102028392A>G" "" "" "" "MYBPC1(NM_002465.4):c.608+9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101634614A>G" "" "benign" "" "0000280206" "0" "10" "12" "102011038" "102011038" "subst" "0.000907714" "02330" "MYBPC1_000003" "g.102011038G>A" "" "" "" "MYBPC1(NM_002465.4):c.103+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101617260G>A" "" "benign" "" "0000280207" "0" "10" "12" "102045163" "102045163" "subst" "0.155435" "02330" "MYBPC1_000009" "g.102045163C>G" "" "" "" "MYBPC1(NM_002465.4):c.1518C>G (p.H506Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101651385C>G" "" "benign" "" "0000280208" "0" "10" "12" "102046875" "102046875" "del" "0.224848" "02330" "MYBPC1_000010" "g.102046875del" "" "" "" "MYBPC1(NM_002465.4):c.1634-18delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101653097del" "" "benign" "" "0000280209" "0" "30" "12" "102047015" "102047015" "subst" "0.000760323" "02330" "MYBPC1_000015" "g.102047015C>T" "" "" "" "MYBPC1(NM_002465.4):c.1756C>T (p.R586W, p.(Arg586Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101653237C>T" "" "likely benign" "" "0000280210" "0" "10" "12" "102055021" "102055021" "subst" "0.000949285" "02330" "MYBPC1_000016" "g.102055021C>T" "" "" "" "MYBPC1(NM_002465.4):c.2013C>T (p.D671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101661243C>T" "" "benign" "" "0000280211" "0" "10" "12" "102064118" "102064118" "subst" "0.95762" "02330" "MYBPC1_000011" "g.102064118T>C" "" "" "" "MYBPC1(NM_002465.4):c.2544T>C (p.I848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101670340T>C" "" "benign" "" "0000280212" "0" "10" "12" "102008265" "102008265" "subst" "0.0102342" "02330" "MYBPC1_000002" "g.102008265C>T" "" "" "" "MYBPC1(NM_002465.4):c.26-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101614487C>T" "" "benign" "" "0000280213" "0" "10" "12" "102079418" "102079418" "subst" "0.536001" "02330" "MYBPC1_000013" "g.102079418G>A" "" "" "" "MYBPC1(NM_001254723.2):c.3378G>A (p.S1126=), MYBPC1(NM_001254723.3):c.3378G>A (p.S1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101685640G>A" "" "benign" "" "0000280214" "0" "10" "12" "102025926" "102025926" "subst" "0.186751" "02330" "MYBPC1_000005" "g.102025926C>G" "" "" "" "MYBPC1(NM_002465.4):c.556+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101632148C>G" "" "benign" "" "0000280215" "0" "10" "12" "102025925" "102025925" "subst" "0.0038092" "02330" "MYBPC1_000004" "g.102025925G>A" "" "" "" "MYBPC1(NM_002465.4):c.556+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101632147G>A" "" "benign" "" "0000282714" "0" "10" "12" "102064118" "102064118" "subst" "0.95762" "02325" "MYBPC1_000011" "g.102064118T>C" "" "" "" "MYBPC1(NM_002465.4):c.2544T>C (p.I848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101670340T>C" "" "benign" "" "0000282715" "0" "10" "12" "102079418" "102079418" "subst" "0.536001" "02325" "MYBPC1_000013" "g.102079418G>A" "" "" "" "MYBPC1(NM_001254723.2):c.3378G>A (p.S1126=), MYBPC1(NM_001254723.3):c.3378G>A (p.S1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101685640G>A" "" "benign" "" "0000336886" "0" "10" "12" "101988774" "101988774" "subst" "0" "02327" "MYBPC1_000006" "g.101988774G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101594996G>T" "" "benign" "" "0000336887" "0" "10" "12" "102025926" "102025926" "subst" "0.186751" "02327" "MYBPC1_000005" "g.102025926C>G" "" "" "" "MYBPC1(NM_002465.4):c.556+10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101632148C>G" "" "benign" "" "0000336889" "0" "10" "12" "102079418" "102079418" "subst" "0.536001" "02327" "MYBPC1_000013" "g.102079418G>A" "" "" "" "MYBPC1(NM_001254723.2):c.3378G>A (p.S1126=), MYBPC1(NM_001254723.3):c.3378G>A (p.S1126=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101685640G>A" "" "benign" "" "0000339215" "0" "10" "12" "102036305" "102036305" "subst" "0.288432" "02327" "MYBPC1_000007" "g.102036305C>T" "" "" "" "MYBPC1(NM_002465.4):c.774C>T (p.D258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101642527C>T" "" "benign" "" "0000340828" "0" "10" "12" "102064118" "102064118" "subst" "0.95762" "02327" "MYBPC1_000011" "g.102064118T>C" "" "" "" "MYBPC1(NM_002465.4):c.2544T>C (p.I848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101670340T>C" "" "benign" "" "0000340938" "0" "10" "12" "102069077" "102069077" "subst" "0.223744" "02327" "MYBPC1_000012" "g.102069077A>G" "" "" "" "MYBPC1(NM_002465.4):c.2817A>G (p.P939=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101675299A>G" "" "benign" "" "0000346490" "0" "10" "12" "102045163" "102045163" "subst" "0.155435" "02327" "MYBPC1_000009" "g.102045163C>G" "" "" "" "MYBPC1(NM_002465.4):c.1518C>G (p.H506Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101651385C>G" "" "benign" "" "0000350803" "0" "10" "12" "102045031" "102045031" "subst" "0.0539008" "02327" "MYBPC1_000008" "g.102045031A>T" "" "" "" "MYBPC1(NM_002465.4):c.1386A>T (p.T462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.101651253A>T" "" "benign" "" "0000546193" "0" "10" "12" "102023192" "102023200" "del" "0" "02330" "MYBPC1_000017" "g.102023192_102023200del" "" "" "" "MYBPC1(NM_002465.4):c.179-20_179-12delTCCTCCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101629414_101629422del" "" "benign" "" "0000546194" "0" "10" "12" "102025479" "102025479" "subst" "0.00125521" "02330" "MYBPC1_000018" "g.102025479C>T" "" "" "" "MYBPC1(NM_002465.4):c.420C>T (p.T140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101631701C>T" "" "benign" "" "0000546195" "0" "10" "12" "102036305" "102036305" "subst" "0.288432" "02330" "MYBPC1_000007" "g.102036305C>T" "" "" "" "MYBPC1(NM_002465.4):c.774C>T (p.D258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101642527C>T" "" "benign" "" "0000546196" "0" "10" "12" "102067412" "102067412" "subst" "0.04986" "02330" "MYBPC1_000019" "g.102067412T>C" "" "" "" "MYBPC1(NM_002465.4):c.2809+12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101673634T>C" "" "benign" "" "0000622764" "0" "50" "12" "102040659" "102040659" "subst" "0.000418672" "02325" "MYBPC1_000020" "g.102040659G>A" "" "" "" "MYBPC1(NM_002465.4):c.1084G>A (p.V362I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101646881G>A" "" "VUS" "" "0000622765" "0" "50" "12" "102069072" "102069072" "subst" "2.84634E-5" "02325" "MYBPC1_000021" "g.102069072C>T" "" "" "" "MYBPC1(NM_002465.4):c.2812C>T (p.R938C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.101675294C>T" "" "VUS" "" "0000648426" "1" "30" "12" "101988865" "101988865" "subst" "0.000309018" "03575" "MYBPC1_000022" "g.101988865A>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs201472372}" "Germline" "" "rs201472372" "0" "" "" "g.101595087A>T" "" "likely benign" "" "0000648427" "1" "30" "12" "102079385" "102079385" "subst" "0.00281468" "03575" "MYBPC1_000023" "g.102079385C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs73390504}" "Germline" "" "rs73390504" "0" "" "" "g.101685607C>T" "" "likely benign" "" "0000679377" "0" "10" "12" "102054917" "102054917" "subst" "0.00449439" "02330" "MYBPC1_000024" "g.102054917T>G" "" "" "" "MYBPC1(NM_002465.4):c.1928-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723786" "0" "70" "12" "102036319" "102036319" "subst" "0" "02329" "MYBPC1_000025" "g.102036319T>G" "" "" "" "MYBPC1(NM_002465.4):c.788T>G (p.L263R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805489" "0" "50" "12" "102045167" "102045167" "subst" "2.43657E-5" "01943" "MYBPC1_000026" "g.102045167G>A" "" "" "" "MYBPC1(NM_002465.3):c.1522G>A (p.G508R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805490" "0" "30" "12" "102074276" "102074276" "subst" "0.00049241" "01943" "MYBPC1_000027" "g.102074276A>G" "" "" "" "MYBPC1(NM_002465.3):c.3402A>G (p.T1134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853225" "0" "30" "12" "102025368" "102025368" "subst" "1.21821E-5" "01943" "MYBPC1_000028" "g.102025368A>T" "" "" "" "MYBPC1(NM_002465.3):c.309A>T (p.I103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853226" "0" "50" "12" "102056256" "102056256" "subst" "1.62431E-5" "01943" "MYBPC1_000029" "g.102056256G>A" "" "" "" "MYBPC1(NM_002465.3):c.2153G>A (p.R718H), MYBPC1(NM_002465.4):c.2153G>A (p.(Arg718His), p.R718H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853227" "0" "50" "12" "102067253" "102067253" "subst" "2.03321E-5" "01943" "MYBPC1_000030" "g.102067253G>A" "" "" "" "MYBPC1(NM_002465.3):c.2662G>A (p.D888N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890228" "0" "50" "12" "102047004" "102047004" "subst" "1.62534E-5" "02325" "MYBPC1_000031" "g.102047004C>A" "" "" "" "MYBPC1(NM_002465.4):c.1745C>A (p.A582D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922479" "0" "90" "12" "102036319" "102036319" "subst" "0" "03779" "MYBPC1_000025" "g.102036319T>G" "" "" "" "" "" "Unknown" "" "rs1565943228" "0" "" "" "" "" "pathogenic" "" "0000949819" "0" "10" "12" "102020669" "102020669" "subst" "1.62444E-5" "02330" "MYBPC1_000034" "g.102020669G>A" "" "" "" "MYBPC1(NM_002465.4):c.123G>A (p.P41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949820" "0" "50" "12" "102071076" "102071076" "subst" "0" "02329" "MYBPC1_000035" "g.102071076G>A" "" "" "" "MYBPC1(NM_002465.4):c.3013G>A (p.G1005R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952160" "11" "70" "12" "102067254" "102067254" "subst" "0" "04545" "MYBPC1_000032" "g.102067254A>G" "" "{PMID:Iyer 2024:38438057}" "" "g.105124A>G" "" "Germline" "" "" "0" "" "" "g.101673476A>G" "" "pathogenic (recessive)" "" "0000952167" "21" "70" "12" "102061639" "102061645" "del" "0" "04545" "MYBPC1_000033" "g.102061639_102061645del" "" "{PMID:Iyer 2024:38438057}" "" "g.99509_99515del" "" "Germline" "" "" "0" "" "" "g.101667861_101667867del" "" "pathogenic (recessive)" "" "0000979958" "0" "50" "12" "102043078" "102043078" "subst" "7.31315E-5" "01804" "MYBPC1_000036" "g.102043078A>G" "" "" "" "MYBPC1(NM_002465.4):c.1237A>G (p.(Arg413Gly), p.R413G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979959" "0" "50" "12" "102047015" "102047015" "subst" "0.000760323" "01804" "MYBPC1_000015" "g.102047015C>T" "" "" "" "MYBPC1(NM_002465.4):c.1756C>T (p.R586W, p.(Arg586Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979960" "0" "50" "12" "102056256" "102056256" "subst" "1.62431E-5" "01804" "MYBPC1_000029" "g.102056256G>A" "" "" "" "MYBPC1(NM_002465.3):c.2153G>A (p.R718H), MYBPC1(NM_002465.4):c.2153G>A (p.(Arg718His), p.R718H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979961" "0" "50" "12" "102057237" "102057237" "subst" "4.06068E-6" "01804" "MYBPC1_000037" "g.102057237A>T" "" "" "" "MYBPC1(NM_002465.4):c.2255A>T (p.(Asp752Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999561" "0" "50" "12" "102021559" "102021559" "subst" "2.43639E-5" "01804" "MYBPC1_000038" "g.102021559G>T" "" "" "" "MYBPC1(NM_002465.3):c.155G>T (p.(Arg52Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999562" "0" "50" "12" "102043078" "102043078" "subst" "7.31315E-5" "02325" "MYBPC1_000036" "g.102043078A>G" "" "" "" "MYBPC1(NM_002465.4):c.1237A>G (p.(Arg413Gly), p.R413G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999563" "0" "50" "12" "102057305" "102057305" "subst" "0" "01804" "MYBPC1_000039" "g.102057305G>A" "" "" "" "MYBPC1(NM_002465.3):c.2323G>A (p.(Asp775Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038871" "0" "30" "12" "102025506" "102025506" "subst" "0.000629994" "01804" "MYBPC1_000040" "g.102025506C>G" "" "" "" "MYBPC1(NM_002465.4):c.438+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038872" "0" "50" "12" "102057272" "102057272" "subst" "1.21822E-5" "01804" "MYBPC1_000041" "g.102057272C>T" "" "" "" "MYBPC1(NM_002465.4):c.2290C>T (p.(Arg764Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038873" "0" "30" "12" "102072022" "102072022" "subst" "4.0627E-6" "01804" "MYBPC1_000042" "g.102072022A>C" "" "" "" "MYBPC1(NM_002465.4):c.3246+6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046337" "0" "50" "12" "102056256" "102056256" "subst" "1.62431E-5" "02325" "MYBPC1_000029" "g.102056256G>A" "" "" "" "MYBPC1(NM_002465.3):c.2153G>A (p.R718H), MYBPC1(NM_002465.4):c.2153G>A (p.(Arg718His), p.R718H)" "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 MYBPC1 ## Count = 56 "{{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}}" "0000174308" "00024286" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318*)" "12" "0000247103" "00024286" "10" "1386" "0" "1386" "0" "c.1386A>T" "r.(?)" "p.(Thr462=)" "" "0000247104" "00024286" "10" "2817" "0" "2817" "0" "c.2817A>G" "r.(?)" "p.(Pro939=)" "" "0000247134" "00024286" "10" "608" "9" "608" "9" "c.608+9A>G" "r.(=)" "p.(=)" "" "0000280206" "00024286" "10" "103" "17" "103" "17" "c.103+17G>A" "r.(=)" "p.(=)" "" "0000280207" "00024286" "10" "1518" "0" "1518" "0" "c.1518C>G" "r.(?)" "p.(His506Gln)" "" "0000280208" "00024286" "10" "1634" "-18" "1634" "-18" "c.1634-18del" "r.(=)" "p.(=)" "" "0000280209" "00024286" "30" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000280210" "00024286" "10" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(Asp671=)" "" "0000280211" "00024286" "10" "2544" "0" "2544" "0" "c.2544T>C" "r.(?)" "p.(Ile848=)" "" "0000280212" "00024286" "10" "26" "-9" "26" "-9" "c.26-9C>T" "r.(=)" "p.(=)" "" "0000280213" "00024286" "10" "3594" "0" "3594" "0" "c.*78G>A" "r.(=)" "p.(=)" "" "0000280214" "00024286" "10" "556" "10" "556" "10" "c.556+10C>G" "r.(=)" "p.(=)" "" "0000280215" "00024286" "10" "556" "9" "556" "9" "c.556+9G>A" "r.(=)" "p.(=)" "" "0000282714" "00024286" "10" "2544" "0" "2544" "0" "c.2544T>C" "r.(?)" "p.(Ile848=)" "" "0000282715" "00024286" "10" "3594" "0" "3594" "0" "c.*78G>A" "r.(=)" "p.(=)" "" "0000336886" "00024286" "10" "-75" "0" "-75" "0" "c.-75G>T" "r.(?)" "p.(=)" "" "0000336887" "00024286" "10" "556" "10" "556" "10" "c.556+10C>G" "r.(=)" "p.(=)" "" "0000336889" "00024286" "10" "3594" "0" "3594" "0" "c.*78G>A" "r.(=)" "p.(=)" "" "0000339215" "00024286" "10" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Asp258=)" "" "0000340828" "00024286" "10" "2544" "0" "2544" "0" "c.2544T>C" "r.(?)" "p.(Ile848=)" "" "0000340938" "00024286" "10" "2817" "0" "2817" "0" "c.2817A>G" "r.(?)" "p.(Pro939=)" "" "0000346490" "00024286" "10" "1518" "0" "1518" "0" "c.1518C>G" "r.(?)" "p.(His506Gln)" "" "0000350803" "00024286" "10" "1386" "0" "1386" "0" "c.1386A>T" "r.(?)" "p.(Thr462=)" "" "0000546193" "00024286" "10" "179" "-20" "179" "-12" "c.179-20_179-12del" "r.(=)" "p.(=)" "" "0000546194" "00024286" "10" "420" "0" "420" "0" "c.420C>T" "r.(?)" "p.(Thr140=)" "" "0000546195" "00024286" "10" "774" "0" "774" "0" "c.774C>T" "r.(?)" "p.(Asp258=)" "" "0000546196" "00024286" "10" "2809" "12" "2809" "12" "c.2809+12T>C" "r.(=)" "p.(=)" "" "0000622764" "00024286" "50" "1084" "0" "1084" "0" "c.1084G>A" "r.(?)" "p.(Val362Ile)" "" "0000622765" "00024286" "50" "2812" "0" "2812" "0" "c.2812C>T" "r.(?)" "p.(Arg938Cys)" "" "0000648426" "00024286" "30" "17" "0" "17" "0" "c.17A>T" "r.(?)" "p.(Lys6Met)" "" "0000648427" "00024286" "30" "3561" "0" "3561" "0" "c.*45C>T" "r.(=)" "p.(=)" "" "0000679377" "00024286" "10" "1928" "-19" "1928" "-19" "c.1928-19T>G" "r.(=)" "p.(=)" "" "0000723786" "00024286" "70" "788" "0" "788" "0" "c.788T>G" "r.(?)" "p.(Leu263Arg)" "" "0000805489" "00024286" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Gly508Arg)" "" "0000805490" "00024286" "30" "3402" "0" "3402" "0" "c.3402A>G" "r.(?)" "p.(Thr1134=)" "" "0000853225" "00024286" "30" "309" "0" "309" "0" "c.309A>T" "r.(?)" "p.(Ile103=)" "" "0000853226" "00024286" "50" "2153" "0" "2153" "0" "c.2153G>A" "r.(?)" "p.(Arg718His)" "" "0000853227" "00024286" "50" "2662" "0" "2662" "0" "c.2662G>A" "r.(?)" "p.(Asp888Asn)" "" "0000890228" "00024286" "50" "1745" "0" "1745" "0" "c.1745C>A" "r.(?)" "p.(Ala582Asp)" "" "0000922479" "00024286" "90" "788" "0" "788" "0" "c.788T>G" "r.(?)" "p.(Leu263Arg)" "" "0000949819" "00024286" "10" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(=)" "" "0000949820" "00024286" "50" "3013" "0" "3013" "0" "c.3013G>A" "r.(?)" "p.(Gly1005Arg)" "" "0000952160" "00024286" "70" "2663" "0" "2663" "0" "c.2663A>G" "r.(?)" "p.(Asp888Gly)" "" "0000952167" "00024286" "70" "2486" "0" "2492" "0" "c.2486_2492del" "r.(?)" "p.(Lys829Ilefs*7)" "" "0000979958" "00024286" "50" "1237" "0" "1237" "0" "c.1237A>G" "r.(?)" "p.(Arg413Gly)" "" "0000979959" "00024286" "50" "1756" "0" "1756" "0" "c.1756C>T" "r.(?)" "p.(Arg586Trp)" "" "0000979960" "00024286" "50" "2153" "0" "2153" "0" "c.2153G>A" "r.(?)" "p.(Arg718His)" "" "0000979961" "00024286" "50" "2255" "0" "2255" "0" "c.2255A>T" "r.(?)" "p.(Asp752Val)" "" "0000999561" "00024286" "50" "155" "0" "155" "0" "c.155G>T" "r.(?)" "p.(Arg52Leu)" "" "0000999562" "00024286" "50" "1237" "0" "1237" "0" "c.1237A>G" "r.(?)" "p.(Arg413Gly)" "" "0000999563" "00024286" "50" "2323" "0" "2323" "0" "c.2323G>A" "r.(?)" "p.(Asp775Asn)" "" "0001038871" "00024286" "30" "438" "9" "438" "9" "c.438+9C>G" "r.(=)" "p.(=)" "" "0001038872" "00024286" "50" "2290" "0" "2290" "0" "c.2290C>T" "r.(?)" "p.(Arg764Cys)" "" "0001038873" "00024286" "30" "3246" "6" "3246" "6" "c.3246+6A>C" "r.(=)" "p.(=)" "" "0001046337" "00024286" "50" "2153" "0" "2153" "0" "c.2153G>A" "r.(?)" "p.(Arg718His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000108382" "0000174308" "0000291737" "0000648426" "0000291738" "0000648427" "0000445251" "0000952160" "0000445251" "0000952167"