### 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" "00006" "2026-03-06 17:26:39" ## 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 = 8 "{{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" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "06201" "CMYO16;MYOTREM" "myopathy, congenital, type 16" "AD" "618524" "" "" "" "00006" "2021-12-10 23:20:41" "00006" "2026-02-06 10:11:07" ## 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 = 9 "{{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" "00472256" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "F" "" "France" "" "0" "" "" "" "" "00472257" "" "" "" "1" "" "04653" "Verebi et al. (submitted)" "" "M" "" "France" "" "0" "" "" "" "" "00473235" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "no" "Iran" "" "0" "" "" "" "Fam111605Pat432" "00473812" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9704809Pat1284" "00473852" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9801780Pat1348" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00107913" "03787" "00290569" "00198" "00290570" "00198" "00442606" "00026" "00472256" "06201" "00472257" "06201" "00473235" "04312" "00473812" "05123" "00473852" "05121" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 03609, 03787, 04312, 05121, 05123, 06201 ## 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}}" "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" "" "0000357065" "06201" "00472256" "04653" "Isolated (sporadic)" "" "0003198: Myopathy, 0009062: Axial hypotonia in infants, 0012389: Appendicular hypotonia, 0002174: Postural tremor, 0002322: Resting tremor, 0007089: Faciolingual fasciculations" "" "" "" "" "" "" "" "" "CMYO16" "Congenital myopathy" "" "0000357066" "06201" "00472257" "04653" "Isolated (sporadic)" "" "0001337: Tremor, 0009020: Exercise-induced muscle fatigue, 0002315: Headache, 0002380: Fasciculations" "" "" "" "" "" "" "" "" "CMYO16" "Myopathy" "" "0000358030" "04312" "00473235" "00006" "Unknown" "6y" "Ptosis, since 14-month age; Negative anti-MuSK antibody test; Abnormal jitter analysis." "" "" "" "" "" "" "" "" "" "congenital myasthenic syndrome" "" "0000358607" "05123" "00473812" "00006" "Unknown" "1y" "Preterm; Low birth weight; Hypotonia since birth; Respiratory problem since birth; Suspicion of seizure; Nasogastric tube feeding; died 4-mo.; Echocardiography was suggestive of small ASD, and suspicion of VSD, PFO and closing PDA." "" "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000358647" "05121" "00473852" "00006" "Familial, autosomal recessive" "17y" "Hypotonia since birth; Myopathic face; Generalized muscle weakness; Tremor, generalized; Lordosis; Winged scapula; Abnormality of gait; EMG-NCV: myopathic process; Muscle biopsy: slight type 1 fiber predominance, atrophy with no necrosis and regeneration or specific structural abnormality but prominent peripheral cluster of mitochondria." "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{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" "" "" "0000473926" "00472256" "1" "04653" "04653" "2026-01-20 14:01:24" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000473927" "00472257" "1" "04653" "04653" "2026-01-20 14:05:29" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000474904" "00473235" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475481" "00473812" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475521" "00473852" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## 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 = 62 "{{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" "" "0001054449" "0" "50" "12" "101988859" "101988859" "subst" "4.0665E-6" "01804" "MYBPC1_000043" "g.101988859C>T" "" "" "" "MYBPC1(NM_002465.4):c.11C>T (p.(Pro4Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001062898" "0" "70" "12" "102036319" "102036319" "subst" "0" "04653" "MYBPC1_000025" "g.102036319T>G" "" "Verebi et al. (submitted)" "" "" "" "De novo" "" "" "0" "" "" "g.101642541T>G" "" "pathogenic" "ACMG" "0001062899" "0" "70" "12" "102036319" "102036319" "subst" "0" "04653" "MYBPC1_000025" "g.102036319T>G" "" "Verebi et al. (submitted)" "" "" "" "De novo" "" "" "0" "" "" "g.101642541T>G" "" "pathogenic" "ACMG" "0001069302" "0" "50" "12" "102071012" "102071173" "dup" "0" "00006" "MYBPC1_000046" "g.(102069210_102071012)_(102071173_102071879)dup" "" "{PMID:Molaei 2025:41315541}" "" "dup ex27, Chr12:102071010-102071174dup" "ACMG 1A, 2I, 2L, 3A" "Germline" "" "" "0" "" "" "g.(101675432_101677234)_(101677395_101678101)dup" "" "VUS" "ACMG" "0001069875" "0" "50" "12" "102025892" "102025892" "subst" "0" "00006" "MYBPC1_000045" "g.102025892T>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM1, PM2, PP3" "Germline" "" "" "0" "" "" "g.101632114T>C" "SCV006075076" "VUS" "ACMG" "0001069915" "3" "70" "12" "102020668" "102020668" "del" "0" "00006" "MYBPC1_000044" "g.102020668del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PS1, PM2, PM3_sup" "Germline" "" "" "0" "" "" "g.101626890del" "SCV001755509" "likely pathogenic" "ACMG" ## 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 = 62 "{{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)" "" "0001054449" "00024286" "50" "11" "0" "11" "0" "c.11C>T" "r.(?)" "p.(Pro4Leu)" "" "0001062898" "00024286" "70" "788" "0" "788" "0" "c.788T>G" "r.(?)" "p.(Leu263Arg)" "11" "0001062899" "00024286" "70" "788" "0" "788" "0" "c.788T>G" "r.(?)" "p.(Leu263Arg)" "11" "0001069302" "00024286" "50" "2950" "-1" "3109" "1" "c.(2949+1_2950-1)_(3109+1_3110-1)dup" "r.?" "p.?" "26i_27i" "0001069875" "00024286" "50" "532" "0" "532" "0" "c.532T>C" "r.(?)" "p.(Cys178Arg)" "" "0001069915" "00024286" "70" "122" "0" "122" "0" "c.122del" "r.(?)" "p.(Pro41ArgfsTer54)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000108382" "0000174308" "0000291737" "0000648426" "0000291738" "0000648427" "0000445251" "0000952160" "0000445251" "0000952167" "0000473926" "0001062898" "0000473927" "0001062899" "0000474904" "0001069302" "0000475481" "0001069875" "0000475521" "0001069915"