### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TNNC1) # 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}}" "TNNC1" "troponin C type 1 (slow)" "3" "p21.1" "unknown" "LRG_378" "UD_132118622600" "" "http://www.LOVD.nl/TNNC1" "" "1" "11943" "7134" "191040" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/TNNC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-01-27 01:05:26" "00006" "2025-06-03 16:15:29" ## 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}}" "00021591" "TNNC1" "troponin C type 1 (slow)" "001" "NM_003280.2" "" "NP_003271.1" "" "" "" "-26" "670" "486" "52488057" "52485107" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00351" "CMH" "cardiomyopathy, hypertrophic (CMH)" "" "" "" "" "" "00006" "2014-03-13 16:15:54" "00006" "2015-03-06 17:16:01" "00352" "CMD" "cardiomyopathy, dilated (CMD)" "" "" "" "" "" "00006" "2014-03-13 16:16:15" "00006" "2015-03-06 17:18:25" "00365" "PPCM" "cardiomyopathy, peripartum (PPCM)" "" "" "" "" "" "00006" "2014-03-30 03:16:23" "00006" "2015-12-07 07:11:25" "03068" "CMD1Z" "cardiomyopathy, dilated, type 1Z (CMD-1Z)" "" "611879" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03291" "CMH13" "cardiomyopathy, hypertrophic, familial, type 13 (CMH-13)" "AD" "613243" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "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" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TNNC1" "03068" "TNNC1" "03291" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00058465" "" "" "" "5" "" "00006" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "4-generation family, 5 affecteds" "F" "" "Netherlands" "" "0" "" "" "" "" "00064719" "" "" "" "1" "" "01601" "" "" "F" "" "Denmark" "46y" "0" "" "" "" "" "00228252" "" "" "" "1" "" "00006" "{PMID:Marston 2015:26406308}" "" "M" "" "Australia" "" "0" "" "" "" "D1" "00295310" "" "" "" "26" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00317899" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317900" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00317901" "" "" "" "1" "" "00006" "{PMID:Walsh 2017:27532257}" "" "" "" "United States" "" "0" "" "" "" "" "00417649" "" "" "" "1" "" "04384" "" "" "" "" "" "" "" "" "" "" "" "00446745" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat6" "00446754" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat21" "00465634" "" "" "" "1" "" "03236" "" "" "F" "no" "" "" "" "" "" "" "Patient B" "00465635" "" "" "" "1" "" "03236" "" "" "M" "?" "" "00y01m" "0" "" "" "" "Patient C" "00465636" "" "" "" "1" "" "03236" "" "Neonatal cardiomyopathy" "M" "" "" "" "0" "" "" "" "Patient D" "00465637" "" "" "" "1" "" "03236" "" "" "F" "?" "" "3yo" "" "" "" "" "Patient E" "00465638" "" "" "" "1" "" "03236" "" "" "F" "?" "" "" "" "" "" "" "Patient G" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00058465" "00365" "00064719" "05166" "00228252" "00352" "00295310" "00198" "00317899" "04172" "00317900" "04172" "00317901" "04172" "00417649" "00352" "00446745" "04173" "00446754" "04173" "00465634" "00351" "00465635" "00352" "00465636" "00352" "00465637" "00352" "00465638" "00351" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00351, 00352, 00365, 03068, 03291, 04172, 04173, 05166 ## Count = 13 "{{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}}" "0000045096" "00365" "00058465" "00006" "Familial" "" "4 cases mild DCM" "" "" "" "" "" "" "" "" "" "" "" "0000053246" "05166" "00064719" "01601" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000172181" "00352" "00228252" "00006" "Unknown" "3y" "see paper; …" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy, familial" "" "0000241645" "04172" "00317899" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241646" "04172" "00317900" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000241647" "04172" "00317901" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dilated cardiomyopathy" "" "0000335949" "04173" "00446745" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000335958" "04173" "00446754" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000351177" "00351" "00465634" "03236" "Isolated (sporadic)" "Neonatal" "Antenatal cardiomyopathy" "neonatal" "Antenatal" "" "" "" "" "" "" "Antenatal cardiomyopathy" "Antenatal cardiomyopathy" "" "0000351178" "00352" "00465635" "03236" "Unknown" "Neonatal" "arrhythmogenic cardiomyopathy; 1m-deceased" "neonatal" "Antenatal" "" "" "" "" "" "" "Antenatal cardiomyopathy" "antenatal cardiomyopathy" "" "0000351179" "00352" "00465636" "03236" "Familial" "" "Neonatal Cardiomyopathy, Alive at 4 years old" "" "" "Antenatal" "" "" "" "" "" "Antenatal cardiomyopathy" "Antenatal cardiomyopathy" "" "0000351180" "00352" "00465637" "03236" "Unknown" "03y" "Dilated Cardiomyopathy, heart transplant at 3 yo" "" "03y" "3y" "" "" "" "" "" "Dilated Cardiomyopathy" "Dilated Cardiomyopathy" "" "0000351181" "00351" "00465638" "03236" "Familial" "08y" "hypertrophic Cardiomyopathy. Onset at 8y, alive at 15y" "8Y" "08y" "" "" "" "" "" "" "Hypertrophic Cardiomyopathy" "Hypertrophic Cardiomyopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000058428" "00058465" "1" "00006" "00006" "2014-03-29 23:50:36" "00006" "2016-01-27 00:50:20" "SEQ-NG-I" "DNA" "" "" "0000064858" "00064719" "1" "01601" "01601" "2016-05-10 11:58:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000229342" "00228252" "1" "00006" "00006" "2019-03-22 14:14:33" "" "" "SEQ" "DNA" "" "58-gene panel" "0000296478" "00295310" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000319081" "00317899" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319082" "00317900" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000319083" "00317901" "1" "00006" "00006" "2020-11-03 19:57:35" "" "" "SEQ;SEQ-NG" "DNA" "" "cardiomyopathy gene panel" "0000418942" "00417649" "1" "04384" "04384" "2022-09-21 11:00:10" "" "" "SEQ-NG" "DNA" "" "" "0000448320" "00446745" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448329" "00446754" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467282" "00465634" "1" "03236" "03236" "2025-06-02 17:24:24" "" "" "SEQ-NG" "DNA" "blood" "" "0000467283" "00465635" "1" "03236" "03236" "2025-06-02 17:37:56" "" "" "SEQ-NG" "DNA" "blood" "" "0000467284" "00465636" "1" "03236" "03236" "2025-06-02 17:55:10" "" "" "SEQ-NG" "DNA" "blood" "" "0000467285" "00465637" "1" "03236" "03236" "2025-06-02 18:06:13" "" "" "SEQ-NG" "DNA" "blood" "" "0000467286" "00465638" "1" "03236" "03236" "2025-06-02 18:12:25" "" "" "SEQ-NG" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000058428" "LAMA4" "0000058428" "PRKAG2" "0000058428" "TNNC1" "0000058428" "TTN" "0000229342" "TNNC1" "0000319081" "TNNC1" "0000319082" "TNNC1" "0000319083" "TNNC1" "0000418942" "TNNC1" "0000467282" "TNNC1" "0000467283" "TNNC1" "0000467284" "TNNC1" "0000467285" "TNNC1" "0000467286" "TNNC1" ## 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 = 113 "{{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}}" "0000089004" "1" "70" "3" "52486175" "52486175" "subst" "0" "00006" "TNNC1_000001" "g.52486175T>C" "" "{PMID:van Spaendonck-Zwarts 2014:24558114}" "" "149T>C" "" "Germline" "" "" "0" "" "" "g.52452159T>C" "" "likely pathogenic" "" "0000096511" "0" "70" "3" "52485428" "52485428" "subst" "1.21976E-5" "01601" "TNNC1_000002" "g.52485428C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.52451412C>T" "" "likely pathogenic" "" "0000309256" "0" "10" "3" "52486216" "52486216" "subst" "0.00056057" "02330" "TNNC1_000024" "g.52486216G>T" "" "" "" "TNNC1(NM_003280.2):c.108C>A (p.I36=), TNNC1(NM_003280.3):c.108C>A (p.I36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452200G>T" "" "benign" "" "0000309257" "0" "50" "3" "52486167" "52486167" "subst" "0" "02330" "TNNC1_000021" "g.52486167T>C" "" "" "" "TNNC1(NM_003280.3):c.157A>G (p.T53A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452151T>C" "" "VUS" "" "0000309259" "0" "30" "3" "52486129" "52486129" "subst" "1.2194E-5" "02330" "TNNC1_000019" "g.52486129G>A" "" "" "" "TNNC1(NM_003280.3):c.195C>T (p.D65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452113G>A" "" "likely benign" "" "0000309260" "0" "10" "3" "52486123" "52486123" "subst" "0.000178863" "02330" "TNNC1_000018" "g.52486123G>A" "" "" "" "TNNC1(NM_003280.2):c.201C>T (p.D67=), TNNC1(NM_003280.3):c.201C>T (p.D67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452107G>A" "" "benign" "" "0000309261" "0" "10" "3" "52486110" "52486110" "subst" "8.13326E-6" "02330" "TNNC1_000016" "g.52486110G>A" "" "" "" "TNNC1(NM_003280.3):c.202+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452094G>A" "" "benign" "" "0000309262" "0" "10" "3" "52485867" "52485867" "subst" "0.00012185" "02330" "TNNC1_000013" "g.52485867G>A" "" "" "" "TNNC1(NM_003280.3):c.210C>T (p.G70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451851G>A" "" "benign" "" "0000309263" "0" "70" "3" "52488009" "52488009" "subst" "0" "02330" "TNNC1_000029" "g.52488009G>A" "" "" "" "TNNC1(NM_003280.2):c.23C>T (p.A8V), TNNC1(NM_003280.3):c.23C>T (p.A8V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52453993G>A" "" "likely pathogenic" "" "0000309264" "0" "10" "3" "52485751" "52485751" "subst" "0.000101539" "02330" "TNNC1_000012" "g.52485751C>T" "" "" "" "TNNC1(NM_003280.3):c.317+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451735C>T" "" "benign" "" "0000309265" "0" "50" "3" "52485431" "52485431" "subst" "0" "02330" "TNNC1_000008" "g.52485431T>C" "" "" "" "TNNC1(NM_003280.2):c.430A>G (p.N144D), TNNC1(NM_003280.3):c.430A>G (p.N144D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451415T>C" "" "VUS" "" "0000309267" "0" "50" "3" "52485416" "52485416" "subst" "0" "02330" "TNNC1_000006" "g.52485416C>T" "" "" "" "TNNC1(NM_003280.2):c.445G>A (p.D149N), TNNC1(NM_003280.3):c.445G>A (p.D149N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451400C>T" "" "VUS" "" "0000309268" "0" "50" "3" "52488028" "52488028" "subst" "0" "02330" "TNNC1_000031" "g.52488028C>T" "" "" "" "TNNC1(NM_003280.3):c.4G>A (p.D2N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52454012C>T" "" "VUS" "" "0000309269" "0" "10" "3" "52486285" "52486285" "subst" "0" "02330" "TNNC1_000026" "g.52486285G>A" "" "" "" "TNNC1(NM_003280.3):c.56-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452269G>A" "" "benign" "" "0000311922" "0" "30" "3" "52486213" "52486213" "subst" "0" "02325" "TNNC1_000023" "g.52486213G>A" "" "" "" "TNNC1(NM_003280.2):c.111C>T (p.S37=), TNNC1(NM_003280.3):c.111C>T (p.S37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452197G>A" "" "likely benign" "" "0000311923" "0" "30" "3" "52486129" "52486129" "subst" "1.2194E-5" "02325" "TNNC1_000019" "g.52486129G>A" "" "" "" "TNNC1(NM_003280.3):c.195C>T (p.D65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452113G>A" "" "likely benign" "" "0000311924" "0" "30" "3" "52486123" "52486123" "subst" "0.000178863" "02325" "TNNC1_000018" "g.52486123G>A" "" "" "" "TNNC1(NM_003280.2):c.201C>T (p.D67=), TNNC1(NM_003280.3):c.201C>T (p.D67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452107G>A" "" "likely benign" "" "0000311925" "0" "50" "3" "52486122" "52486122" "subst" "4.06603E-6" "02325" "TNNC1_000017" "g.52486122C>T" "" "" "" "TNNC1(NM_003280.3):c.202G>A (p.G68S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452106C>T" "" "VUS" "" "0000311926" "0" "50" "3" "52485867" "52485867" "subst" "0.00012185" "02325" "TNNC1_000013" "g.52485867G>A" "" "" "" "TNNC1(NM_003280.3):c.210C>T (p.G70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451851G>A" "" "VUS" "" "0000311927" "0" "30" "3" "52487999" "52487999" "subst" "0" "02325" "TNNC1_000028" "g.52487999G>C" "" "" "" "TNNC1(NM_003280.3):c.24+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52453983G>C" "" "likely benign" "" "0000314721" "0" "30" "3" "52486216" "52486216" "subst" "0.00056057" "02326" "TNNC1_000024" "g.52486216G>T" "" "" "" "TNNC1(NM_003280.2):c.108C>A (p.I36=), TNNC1(NM_003280.3):c.108C>A (p.I36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452200G>T" "" "likely benign" "" "0000314722" "0" "70" "3" "52485461" "52485461" "subst" "0" "02326" "TNNC1_000011" "g.52485461C>T" "" "" "" "TNNC1(NM_003280.2):c.400G>A (p.E134K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451445C>T" "" "likely pathogenic" "" "0000316826" "0" "30" "3" "52486213" "52486213" "subst" "0" "01943" "TNNC1_000023" "g.52486213G>A" "" "" "" "TNNC1(NM_003280.2):c.111C>T (p.S37=), TNNC1(NM_003280.3):c.111C>T (p.S37=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452197G>A" "" "likely benign" "" "0000316827" "0" "30" "3" "52486180" "52486180" "subst" "0" "01943" "TNNC1_000022" "g.52486180C>A" "" "" "" "TNNC1(NM_003280.2):c.144G>T (p.L48=), TNNC1(NM_003280.3):c.144G>T (p.L48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452164C>A" "" "likely benign" "" "0000316828" "0" "50" "3" "52488016" "52488016" "subst" "0" "01943" "TNNC1_000030" "g.52488016T>G" "" "" "" "TNNC1(NM_003280.2):c.16A>C (p.K6Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52454000T>G" "" "VUS" "" "0000316829" "0" "10" "3" "52486103" "52486103" "subst" "4.06904E-6" "01943" "TNNC1_000015" "g.52486103T>C" "" "" "" "TNNC1(NM_003280.2):c.202+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452087T>C" "" "benign" "" "0000316830" "0" "50" "3" "52485872" "52485872" "subst" "0" "01943" "TNNC1_000014" "g.52485872T>C" "" "" "" "TNNC1(NM_003280.2):c.205A>G (p.S69G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451856T>C" "" "VUS" "" "0000316831" "0" "30" "3" "52485444" "52485444" "subst" "2.03272E-5" "01943" "TNNC1_000010" "g.52485444G>A" "" "" "" "TNNC1(NM_003280.2):c.417C>T (p.D139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451428G>A" "" "likely benign" "" "0000316832" "0" "50" "3" "52485432" "52485432" "subst" "0" "01943" "TNNC1_000009" "g.52485432G>A" "" "" "" "TNNC1(NM_003280.2):c.429C>T (p.N143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451416G>A" "" "VUS" "" "0000316833" "0" "50" "3" "52485431" "52485431" "subst" "0" "01943" "TNNC1_000008" "g.52485431T>C" "" "" "" "TNNC1(NM_003280.2):c.430A>G (p.N144D), TNNC1(NM_003280.3):c.430A>G (p.N144D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451415T>C" "" "VUS" "" "0000316834" "0" "10" "3" "52485390" "52485390" "subst" "8.13478E-6" "01943" "TNNC1_000005" "g.52485390C>T" "" "" "" "TNNC1(NM_003280.2):c.454+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451374C>T" "" "benign" "" "0000316835" "0" "10" "3" "52485342" "52485342" "subst" "3.25587E-5" "01943" "TNNC1_000004" "g.52485342T>G" "" "" "" "TNNC1(NM_003280.2):c.455-20A>C, TNNC1(NM_003280.3):c.455-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451326T>G" "" "benign" "" "0000316836" "0" "30" "3" "52485303" "52485303" "subst" "3.65815E-5" "01943" "TNNC1_000003" "g.52485303C>T" "" "" "" "TNNC1(NM_003280.2):c.474G>A (p.K158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52451287C>T" "" "likely benign" "" "0000316837" "0" "30" "3" "52486252" "52486252" "subst" "2.039E-5" "01943" "TNNC1_000025" "g.52486252G>A" "" "" "" "TNNC1(NM_003280.2):c.72C>T (p.F24=), TNNC1(NM_003280.3):c.72C>T (p.F24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452236G>A" "" "likely benign" "" "0000329447" "0" "70" "3" "52486507" "52486507" "subst" "0" "01804" "TNNC1_000027" "g.52486507T>C" "" "" "" "TNNC1(NM_003280.2):c.47A>G (p.(Gln16Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52452491T>C" "" "likely pathogenic" "" "0000470533" "1" "70" "3" "52485301" "52485301" "subst" "0" "00006" "TNNC1_000032" "g.52485301C>T" "" "{PMID:Marston 2015:26406308}" "" "G159D" "" "Germline" "" "" "0" "" "" "g.52451285C>T" "" "likely pathogenic" "" "0000520356" "0" "70" "3" "52485422" "52485422" "subst" "1.21976E-5" "02330" "NISCH_000003" "g.52485422G>A" "" "" "" "TNNC1(NM_003280.3):c.439C>T (p.R147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451406G>A" "" "likely pathogenic" "" "0000520357" "0" "70" "3" "52485422" "52485422" "subst" "1.21976E-5" "02325" "NISCH_000003" "g.52485422G>A" "" "" "" "TNNC1(NM_003280.3):c.439C>T (p.R147C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451406G>A" "" "likely pathogenic" "" "0000520358" "0" "50" "3" "52485425" "52485425" "subst" "1.21973E-5" "02330" "NISCH_000004" "g.52485425C>T" "" "" "" "TNNC1(NM_003280.2):c.436G>A (p.G146S), TNNC1(NM_003280.3):c.436G>A (p.G146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451409C>T" "" "VUS" "" "0000520359" "0" "50" "3" "52485425" "52485425" "subst" "1.21973E-5" "02327" "NISCH_000004" "g.52485425C>T" "" "" "" "TNNC1(NM_003280.2):c.436G>A (p.G146S), TNNC1(NM_003280.3):c.436G>A (p.G146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451409C>T" "" "VUS" "" "0000520360" "0" "50" "3" "52485425" "52485425" "subst" "1.21973E-5" "02325" "NISCH_000004" "g.52485425C>T" "" "" "" "TNNC1(NM_003280.2):c.436G>A (p.G146S), TNNC1(NM_003280.3):c.436G>A (p.G146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451409C>T" "" "VUS" "" "0000520361" "0" "70" "3" "52485425" "52485425" "subst" "1.21973E-5" "02326" "NISCH_000004" "g.52485425C>T" "" "" "" "TNNC1(NM_003280.2):c.436G>A (p.G146S), TNNC1(NM_003280.3):c.436G>A (p.G146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451409C>T" "" "likely pathogenic" "" "0000520362" "0" "70" "3" "52485431" "52485431" "subst" "0" "02327" "TNNC1_000008" "g.52485431T>C" "" "" "" "TNNC1(NM_003280.2):c.430A>G (p.N144D), TNNC1(NM_003280.3):c.430A>G (p.N144D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451415T>C" "" "likely pathogenic" "" "0000520363" "0" "30" "3" "52485573" "52485573" "subst" "0.000370349" "02327" "NISCH_000005" "g.52485573T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451557T>C" "" "likely benign" "" "0000520364" "0" "50" "3" "52485729" "52485729" "subst" "0.000288601" "02327" "NISCH_000006" "g.52485729C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451713C>T" "" "VUS" "" "0000520365" "0" "90" "3" "52485759" "52485759" "subst" "0" "01943" "NISCH_000007" "g.52485759C>T" "" "" "" "TNNC1(NM_003280.2):c.317+1G>A, TNNC1(NM_003280.3):c.317+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451743C>T" "" "pathogenic" "" "0000520367" "0" "50" "3" "52485773" "52485773" "subst" "1.21828E-5" "02325" "NISCH_000008" "g.52485773G>A" "" "" "" "TNNC1(NM_003280.2):c.304C>T (p.R102C), TNNC1(NM_003280.3):c.304C>T (p.R102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451757G>A" "" "VUS" "" "0000520368" "0" "70" "3" "52485773" "52485773" "subst" "1.21828E-5" "02326" "NISCH_000008" "g.52485773G>A" "" "" "" "TNNC1(NM_003280.2):c.304C>T (p.R102C), TNNC1(NM_003280.3):c.304C>T (p.R102C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451757G>A" "" "likely pathogenic" "" "0000520369" "0" "50" "3" "52485829" "52485829" "subst" "8.12137E-6" "02330" "NISCH_000009" "g.52485829C>T" "" "" "" "TNNC1(NM_003280.3):c.248G>A (p.R83Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451813C>T" "" "VUS" "" "0000520370" "0" "50" "3" "52485829" "52485829" "subst" "8.12137E-6" "02325" "NISCH_000009" "g.52485829C>T" "" "" "" "TNNC1(NM_003280.3):c.248G>A (p.R83Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451813C>T" "" "VUS" "" "0000520372" "0" "30" "3" "52485861" "52485861" "subst" "6.09226E-5" "02326" "NISCH_000011" "g.52485861C>T" "" "" "" "TNNC1(NM_003280.2):c.216G>A (p.V72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451845C>T" "" "likely benign" "" "0000520373" "0" "30" "3" "52485867" "52485867" "subst" "0.00012185" "02327" "TNNC1_000013" "g.52485867G>A" "" "" "" "TNNC1(NM_003280.3):c.210C>T (p.G70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451851G>A" "" "likely benign" "" "0000520374" "0" "10" "3" "52485879" "52485879" "subst" "0.000349389" "02330" "NISCH_000012" "g.52485879G>A" "" "" "" "TNNC1(NM_003280.2):c.203-5C>T, TNNC1(NM_003280.3):c.203-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451863G>A" "" "benign" "" "0000520375" "0" "30" "3" "52485879" "52485879" "subst" "0.000349389" "01943" "NISCH_000012" "g.52485879G>A" "" "" "" "TNNC1(NM_003280.2):c.203-5C>T, TNNC1(NM_003280.3):c.203-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451863G>A" "" "likely benign" "" "0000520376" "0" "30" "3" "52486115" "52486116" "ins" "0" "02327" "NISCH_000013" "g.52486115_52486116insC" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452099_52452100insC" "" "likely benign" "" "0000520377" "0" "50" "3" "52486117" "52486117" "subst" "4.47355E-5" "02327" "NISCH_000014" "g.52486117C>G" "" "" "" "TNNC1(NM_003280.3):c.202+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452101C>G" "" "VUS" "" "0000520379" "0" "10" "3" "52486180" "52486180" "subst" "0" "02330" "TNNC1_000022" "g.52486180C>A" "" "" "" "TNNC1(NM_003280.2):c.144G>T (p.L48=), TNNC1(NM_003280.3):c.144G>T (p.L48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452164C>A" "" "benign" "" "0000520380" "0" "30" "3" "52486216" "52486216" "subst" "0.00056057" "01943" "TNNC1_000024" "g.52486216G>T" "" "" "" "TNNC1(NM_003280.2):c.108C>A (p.I36=), TNNC1(NM_003280.3):c.108C>A (p.I36=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452200G>T" "" "likely benign" "" "0000520381" "0" "50" "3" "52486218" "52486218" "dup" "0" "02330" "NISCH_000016" "g.52486218dup" "" "" "" "TNNC1(NM_003280.3):c.106dupA (p.I36Nfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452202dup" "" "VUS" "" "0000520382" "0" "50" "3" "52486259" "52486259" "subst" "0" "02327" "NISCH_000017" "g.52486259G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452243G>T" "" "VUS" "" "0000520383" "0" "30" "3" "52486464" "52486464" "subst" "7.08558E-5" "02327" "NISCH_000018" "g.52486464C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452448C>T" "" "likely benign" "" "0000520384" "0" "30" "3" "52486478" "52486479" "del" "0" "02326" "NISCH_000019" "g.52486478_52486479del" "" "" "" "TNNC1(NM_003280.2):c.55+20_55+21delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452462_52452463del" "" "likely benign" "" "0000520386" "0" "30" "3" "52488166" "52488166" "subst" "0" "02327" "NISCH_000020" "g.52488166C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52454150C>T" "" "likely benign" "" "0000608805" "0" "30" "3" "52485321" "52485321" "subst" "8.12836E-6" "02327" "NISCH_000023" "g.52485321C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451305C>T" "" "likely benign" "" "0000608806" "0" "50" "3" "52485426" "52485426" "subst" "0.00012604" "02325" "NISCH_000024" "g.52485426G>T" "" "" "" "TNNC1(NM_003280.3):c.435C>A (p.D145E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451410G>T" "" "VUS" "" "0000608807" "0" "10" "3" "52485557" "52485557" "dup" "0" "02327" "NISCH_000025" "g.52485557dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52451541dup" "" "benign" "" "0000608808" "0" "30" "3" "52486123" "52486123" "subst" "0.000178863" "01943" "TNNC1_000018" "g.52486123G>A" "" "" "" "TNNC1(NM_003280.2):c.201C>T (p.D67=), TNNC1(NM_003280.3):c.201C>T (p.D67=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452107G>A" "" "likely benign" "" "0000608809" "0" "50" "3" "52486140" "52486140" "subst" "0" "01943" "NISCH_000026" "g.52486140C>T" "" "" "" "TNNC1(NM_003280.2):c.184G>A (p.D62N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452124C>T" "" "VUS" "" "0000608810" "0" "30" "3" "52486289" "52486289" "dup" "0" "02326" "NISCH_000027" "g.52486289dup" "" "" "" "TNNC1(NM_003280.2):c.56-16dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52452273dup" "" "likely benign" "" "0000608811" "0" "50" "3" "52488027" "52488027" "subst" "0" "02327" "NISCH_000028" "g.52488027T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52454011T>A" "" "VUS" "" "0000653167" "1" "90" "3" "52486233" "52486233" "subst" "0" "03575" "TNNC1_000033" "g.52486233C>T" "26/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "26 heterozygous, no homozygous; {DB:CLININrs397514616}" "Germline" "" "rs397514616" "0" "" "" "g.52452217C>T" "" "pathogenic" "" "0000655000" "0" "10" "3" "52488037" "52488037" "subst" "0" "02330" "NISCH_000029" "g.52488037C>T" "" "" "" "TNNC1(NM_003280.3):c.-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52454021C>T" "" "benign" "" "0000689124" "0" "30" "3" "52485468" "52485468" "subst" "2.84493E-5" "02326" "NISCH_000030" "g.52485468G>A" "" "" "" "TNNC1(NM_003280.2):c.393C>T (p.D131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000701687" "0" "50" "3" "52485467" "52485467" "subst" "0" "00006" "TNNC1_000035" "g.52485467C>T" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.52451451C>T" "" "VUS" "" "0000701688" "0" "50" "3" "52485419" "52485419" "subst" "8.13147E-6" "00006" "TNNC1_000034" "g.52485419T>C" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.52451403T>C" "" "VUS" "" "0000701689" "0" "50" "3" "52485416" "52485416" "subst" "0" "00006" "TNNC1_000006" "g.52485416C>T" "1/156 cases" "{PMID:Walsh 2017:27532257}" "" "" "VUS favour pathogenic" "Germline" "" "" "0" "" "" "g.52451400C>T" "" "VUS" "" "0000719548" "0" "50" "3" "52485428" "52485428" "subst" "1.21976E-5" "01943" "TNNC1_000002" "g.52485428C>T" "" "" "" "TNNC1(NM_003280.2):c.433G>A (p.D145N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719549" "0" "50" "3" "52485468" "52485470" "del" "0" "02325" "NISCH_000032" "g.52485468_52485470del" "" "" "" "TNNC1(NM_003280.3):c.394_396delGAC (p.D132del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719550" "0" "50" "3" "52486117" "52486117" "subst" "4.47355E-5" "02325" "NISCH_000014" "g.52486117C>G" "" "" "" "TNNC1(NM_003280.3):c.202+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719551" "0" "50" "3" "52486167" "52486167" "subst" "0" "02329" "TNNC1_000021" "g.52486167T>C" "" "" "" "TNNC1(NM_003280.3):c.157A>G (p.T53A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000789902" "0" "70" "3" "52485826" "52485826" "subst" "0" "03779" "TNNC1_000036" "g.52485826C>T" "" "" "" "" "" "CLASSIFICATION record" "" "rs267607126" "0" "" "" "" "" "likely pathogenic" "" "0000790388" "0" "70" "3" "52486245" "52486245" "subst" "0" "03779" "TNNC1_000037" "g.52486245A>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000801327" "0" "50" "3" "52486227" "52486227" "subst" "0" "02325" "NISCH_000033" "g.52486227C>T" "" "" "" "TNNC1(NM_003280.3):c.97G>A (p.D33N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801328" "0" "70" "3" "52486522" "52486522" "subst" "0" "02329" "NISCH_000034" "g.52486522T>C" "" "" "" "TNNC1(NM_003280.3):c.32A>G (p.Q11R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850382" "0" "50" "3" "52485416" "52485416" "subst" "0" "01943" "TNNC1_000006" "g.52485416C>T" "" "" "" "TNNC1(NM_003280.2):c.445G>A (p.D149N), TNNC1(NM_003280.3):c.445G>A (p.D149N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850383" "0" "50" "3" "52485478" "52485478" "subst" "0" "02327" "NISCH_000035" "g.52485478A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850384" "0" "10" "3" "52485742" "52485742" "subst" "4.0622E-6" "02330" "NISCH_000036" "g.52485742C>T" "" "" "" "TNNC1(NM_003280.3):c.317+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859102" "0" "50" "3" "52486237" "52486237" "del" "0" "02326" "NISCH_000037" "g.52486237del" "" "" "" "TNNC1(NM_003280.2):c.89delG (p.G30Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000878857" "0" "70" "3" "52485499" "52485499" "subst" "0" "04384" "TNNC1_000038" "g.52485499A>G" "" "" "beatrice.alessandrini" "" "" "Unknown" "" "" "" "" "" "" "" "VUS" "" "0000885929" "0" "10" "3" "52485342" "52485342" "subst" "3.25587E-5" "02330" "TNNC1_000004" "g.52485342T>G" "" "" "" "TNNC1(NM_003280.2):c.455-20A>C, TNNC1(NM_003280.3):c.455-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885930" "0" "50" "3" "52485419" "52485419" "subst" "8.13147E-6" "02327" "TNNC1_000034" "g.52485419T>C" "" "" "" "TNNC1(NM_003280.3):c.442A>G (p.I148V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885931" "0" "50" "3" "52485426" "52485426" "subst" "0.00012604" "02327" "NISCH_000024" "g.52485426G>T" "" "" "" "TNNC1(NM_003280.3):c.435C>A (p.D145E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885932" "0" "50" "3" "52485468" "52485470" "del" "0" "02330" "NISCH_000032" "g.52485468_52485470del" "" "" "" "TNNC1(NM_003280.3):c.394_396delGAC (p.D132del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885933" "0" "10" "3" "52485537" "52485537" "subst" "5.68967E-5" "02330" "NISCH_000038" "g.52485537A>G" "" "" "" "TNNC1(NM_003280.3):c.324T>C (p.A108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911978" "0" "30" "3" "52485429" "52485429" "subst" "2.43956E-5" "02326" "NISCH_000039" "g.52485429G>A" "" "" "" "TNNC1(NM_003280.2):c.432C>T (p.N144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923972" "0" "30" "3" "52486129" "52486129" "subst" "1.2194E-5" "02327" "TNNC1_000019" "g.52486129G>A" "" "" "" "TNNC1(NM_003280.3):c.195C>T (p.D65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923973" "0" "50" "3" "52486141" "52486141" "subst" "0" "02327" "NISCH_000040" "g.52486141G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923974" "0" "10" "3" "52486252" "52486252" "subst" "2.039E-5" "02330" "TNNC1_000025" "g.52486252G>A" "" "" "" "TNNC1(NM_003280.2):c.72C>T (p.F24=), TNNC1(NM_003280.3):c.72C>T (p.F24=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928814" "0" "10" "3" "52487999" "52487999" "subst" "0" "02330" "TNNC1_000028" "g.52487999G>C" "" "" "" "TNNC1(NM_003280.3):c.24+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000957727" "0" "70" "3" "52486140" "52486140" "subst" "0" "00006" "NISCH_000026" "g.52486140C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52452124C>T" "" "likely pathogenic" "" "0000957736" "0" "50" "3" "52485426" "52485426" "subst" "0.00012604" "00006" "NISCH_000024" "g.52485426G>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.52451410G>T" "" "VUS" "" "0000962847" "0" "50" "3" "52485868" "52485868" "subst" "0" "02326" "NISCH_000041" "g.52485868C>T" "" "" "" "TNNC1(NM_003280.2):c.209G>A (p.G70D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975926" "0" "90" "3" "52485759" "52485759" "subst" "0" "01804" "NISCH_000007" "g.52485759C>T" "" "" "" "TNNC1(NM_003280.2):c.317+1G>A, TNNC1(NM_003280.3):c.317+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013909" "0" "50" "3" "52486122" "52486122" "subst" "4.06603E-6" "02330" "TNNC1_000017" "g.52486122C>T" "" "" "" "TNNC1(NM_003280.3):c.202G>A (p.G68S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024846" "0" "50" "3" "52485419" "52485419" "subst" "8.13147E-6" "02330" "TNNC1_000034" "g.52485419T>C" "" "" "" "TNNC1(NM_003280.3):c.442A>G (p.I148V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024847" "0" "50" "3" "52486154" "52486154" "subst" "0" "02326" "NISCH_000042" "g.52486154A>G" "" "" "" "TNNC1(NM_003280.2):c.170T>C (p.L57P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024848" "0" "70" "3" "52488009" "52488009" "subst" "0" "02326" "TNNC1_000029" "g.52488009G>A" "" "" "" "TNNC1(NM_003280.2):c.23C>T (p.A8V), TNNC1(NM_003280.3):c.23C>T (p.A8V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001034082" "0" "50" "3" "52486211" "52486211" "subst" "0" "02327" "NISCH_000043" "g.52486211G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045093" "0" "90" "3" "52486163" "52486163" "subst" "0" "03236" "TNNC1_000039" "g.52486163G>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.52452147G>C" "" "likely pathogenic (dominant)" "ACMG" "0001045094" "0" "90" "3" "52486245" "52486245" "subst" "0" "03236" "TNNC1_000037" "g.52486245A>C" "" "" "" "" "deceased at 1 month of age" "De novo" "" "" "0" "" "" "g.52452229A>C" "" "likely pathogenic (dominant)" "ACMG" "0001045095" "0" "70" "3" "52486251" "52486251" "subst" "0" "03236" "TNNC1_000040" "g.52486251C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.52452235C>T" "" "likely pathogenic (dominant)" "ACMG" "0001045096" "0" "70" "3" "52485416" "52485416" "subst" "0" "03236" "TNNC1_000006" "g.52485416C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.52451400C>T" "" "likely pathogenic (dominant)" "ACMG" "0001045097" "0" "70" "3" "52485416" "52485416" "subst" "0" "03236" "TNNC1_000006" "g.52485416C>T" "" "" "" "" "additional variant in another HCM gene (MYBPC3)" "Germline/De novo (untested)" "" "" "0" "" "" "g.52451400C>T" "" "likely pathogenic (dominant)" "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 TNNC1 ## Count = 113 "{{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}}" "0000089004" "00021591" "70" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Gln50Arg)" "3" "0000096511" "00021591" "70" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Asp145Asn)" "5" "0000309256" "00021591" "10" "108" "0" "108" "0" "c.108C>A" "r.(?)" "p.(Ile36=)" "" "0000309257" "00021591" "50" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.(Thr53Ala)" "" "0000309259" "00021591" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Asp65=)" "" "0000309260" "00021591" "10" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Asp67=)" "" "0000309261" "00021591" "10" "202" "12" "202" "12" "c.202+12C>T" "r.(=)" "p.(=)" "" "0000309262" "00021591" "10" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(Gly70=)" "" "0000309263" "00021591" "70" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Ala8Val)" "" "0000309264" "00021591" "10" "317" "9" "317" "9" "c.317+9G>A" "r.(=)" "p.(=)" "" "0000309265" "00021591" "50" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Asn144Asp)" "" "0000309267" "00021591" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Asp149Asn)" "" "0000309268" "00021591" "50" "4" "0" "4" "0" "c.4G>A" "r.(?)" "p.(Asp2Asn)" "" "0000309269" "00021591" "10" "56" "-17" "56" "-17" "c.56-17C>T" "r.(=)" "p.(=)" "" "0000311922" "00021591" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Ser37=)" "" "0000311923" "00021591" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Asp65=)" "" "0000311924" "00021591" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Asp67=)" "" "0000311925" "00021591" "50" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Ser)" "" "0000311926" "00021591" "50" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(Gly70=)" "" "0000311927" "00021591" "30" "24" "9" "24" "9" "c.24+9C>G" "r.(=)" "p.(=)" "" "0000314721" "00021591" "30" "108" "0" "108" "0" "c.108C>A" "r.(?)" "p.(Ile36=)" "" "0000314722" "00021591" "70" "400" "0" "400" "0" "c.400G>A" "r.(?)" "p.(Glu134Lys)" "" "0000316826" "00021591" "30" "111" "0" "111" "0" "c.111C>T" "r.(?)" "p.(Ser37=)" "" "0000316827" "00021591" "30" "144" "0" "144" "0" "c.144G>T" "r.(?)" "p.(Leu48=)" "" "0000316828" "00021591" "50" "16" "0" "16" "0" "c.16A>C" "r.(?)" "p.(Lys6Gln)" "" "0000316829" "00021591" "10" "202" "19" "202" "19" "c.202+19A>G" "r.(=)" "p.(=)" "" "0000316830" "00021591" "50" "205" "0" "205" "0" "c.205A>G" "r.(?)" "p.(Ser69Gly)" "" "0000316831" "00021591" "30" "417" "0" "417" "0" "c.417C>T" "r.(?)" "p.(Asp139=)" "" "0000316832" "00021591" "50" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Asn143=)" "" "0000316833" "00021591" "50" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Asn144Asp)" "" "0000316834" "00021591" "10" "454" "17" "454" "17" "c.454+17G>A" "r.(=)" "p.(=)" "" "0000316835" "00021591" "10" "455" "-20" "455" "-20" "c.455-20A>C" "r.(=)" "p.(=)" "" "0000316836" "00021591" "30" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Lys158=)" "" "0000316837" "00021591" "30" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Phe24=)" "" "0000329447" "00021591" "70" "47" "0" "47" "0" "c.47A>G" "r.(?)" "p.(Gln16Arg)" "" "0000470533" "00021591" "70" "476" "0" "476" "0" "c.476G>A" "r.(?)" "p.(Gly159Asp)" "" "0000520356" "00021591" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000520357" "00021591" "70" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Arg147Cys)" "" "0000520358" "00021591" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Gly146Ser)" "" "0000520359" "00021591" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Gly146Ser)" "" "0000520360" "00021591" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Gly146Ser)" "" "0000520361" "00021591" "70" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Gly146Ser)" "" "0000520362" "00021591" "70" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Asn144Asp)" "" "0000520363" "00021591" "30" "318" "-30" "318" "-30" "c.318-30A>G" "r.(=)" "p.(=)" "" "0000520364" "00021591" "50" "317" "31" "317" "31" "c.317+31G>A" "r.(=)" "p.(=)" "" "0000520365" "00021591" "90" "317" "1" "317" "1" "c.317+1G>A" "r.spl?" "p.?" "" "0000520367" "00021591" "50" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Cys)" "" "0000520368" "00021591" "70" "304" "0" "304" "0" "c.304C>T" "r.(?)" "p.(Arg102Cys)" "" "0000520369" "00021591" "50" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" "" "0000520370" "00021591" "50" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" "" "0000520372" "00021591" "30" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Val72=)" "" "0000520373" "00021591" "30" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(Gly70=)" "" "0000520374" "00021591" "10" "203" "-5" "203" "-5" "c.203-5C>T" "r.spl?" "p.?" "" "0000520375" "00021591" "30" "203" "-5" "203" "-5" "c.203-5C>T" "r.spl?" "p.?" "" "0000520376" "00021591" "30" "202" "6" "202" "7" "c.202+6_202+7insG" "r.(=)" "p.(=)" "" "0000520377" "00021591" "50" "202" "5" "202" "5" "c.202+5G>C" "r.spl?" "p.?" "" "0000520379" "00021591" "10" "144" "0" "144" "0" "c.144G>T" "r.(?)" "p.(Leu48=)" "" "0000520380" "00021591" "30" "108" "0" "108" "0" "c.108C>A" "r.(?)" "p.(Ile36=)" "" "0000520381" "00021591" "50" "106" "0" "106" "0" "c.106dup" "r.(?)" "p.(Ile36AsnfsTer20)" "" "0000520382" "00021591" "50" "65" "0" "65" "0" "c.65C>A" "r.(?)" "p.(Ala22Glu)" "" "0000520383" "00021591" "30" "55" "35" "55" "35" "c.55+35G>A" "r.(=)" "p.(=)" "" "0000520384" "00021591" "30" "55" "20" "55" "21" "c.55+20_55+21del" "r.(=)" "p.(=)" "" "0000520386" "00021591" "30" "-135" "0" "-135" "0" "c.-135G>A" "r.(?)" "p.(=)" "" "0000608805" "00021591" "30" "456" "0" "456" "0" "c.456G>A" "r.(?)" "p.(Glu152=)" "" "0000608806" "00021591" "50" "435" "0" "435" "0" "c.435C>A" "r.(?)" "p.(Asp145Glu)" "" "0000608807" "00021591" "10" "318" "-10" "318" "-10" "c.318-10dup" "r.(=)" "p.(=)" "" "0000608808" "00021591" "30" "201" "0" "201" "0" "c.201C>T" "r.(?)" "p.(Asp67=)" "" "0000608809" "00021591" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Asp62Asn)" "" "0000608810" "00021591" "30" "56" "-16" "56" "-16" "c.56-16dup" "r.(=)" "p.(=)" "" "0000608811" "00021591" "50" "5" "0" "5" "0" "c.5A>T" "r.(?)" "p.(Asp2Val)" "" "0000653167" "00021591" "90" "91" "0" "91" "0" "c.91G>A" "r.(?)" "p.(Ala31Thr)" "" "0000655000" "00021591" "10" "-6" "0" "-6" "0" "c.-6G>A" "r.(?)" "p.(=)" "" "0000689124" "00021591" "30" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Asp131=)" "" "0000701687" "00021591" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Asp132Asn)" "" "0000701688" "00021591" "50" "442" "0" "442" "0" "c.442A>G" "r.(?)" "p.(Ile148Val)" "" "0000701689" "00021591" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Asp149Asn)" "" "0000719548" "00021591" "50" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Asp145Asn)" "" "0000719549" "00021591" "50" "394" "0" "396" "0" "c.394_396del" "r.(?)" "p.(Asp132del)" "" "0000719550" "00021591" "50" "202" "5" "202" "5" "c.202+5G>C" "r.spl?" "p.?" "" "0000719551" "00021591" "50" "157" "0" "157" "0" "c.157A>G" "r.(?)" "p.(Thr53Ala)" "" "0000789902" "00021591" "70" "251" "0" "251" "0" "c.251G>A" "r.(?)" "p.(Cys84Tyr)" "" "0000790388" "00021591" "70" "79" "0" "79" "0" "c.79T>G" "r.(?)" "p.(Phe27Val)" "" "0000801327" "00021591" "50" "97" "0" "97" "0" "c.97G>A" "r.(?)" "p.(Asp33Asn)" "" "0000801328" "00021591" "70" "32" "0" "32" "0" "c.32A>G" "r.(?)" "p.(Gln11Arg)" "" "0000850382" "00021591" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Asp149Asn)" "" "0000850383" "00021591" "50" "383" "0" "383" "0" "c.383T>A" "r.(?)" "p.(Ile128Asn)" "" "0000850384" "00021591" "10" "317" "18" "317" "18" "c.317+18G>A" "r.(=)" "p.(=)" "" "0000859102" "00021591" "50" "89" "0" "89" "0" "c.89del" "r.(?)" "p.(Gly30Alafs*15)" "" "0000878857" "00021591" "70" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Leu121Pro)" "5" "0000885929" "00021591" "10" "455" "-20" "455" "-20" "c.455-20A>C" "r.(=)" "p.(=)" "" "0000885930" "00021591" "50" "442" "0" "442" "0" "c.442A>G" "r.(?)" "p.(Ile148Val)" "" "0000885931" "00021591" "50" "435" "0" "435" "0" "c.435C>A" "r.(?)" "p.(Asp145Glu)" "" "0000885932" "00021591" "50" "394" "0" "396" "0" "c.394_396del" "r.(?)" "p.(Asp132del)" "" "0000885933" "00021591" "10" "324" "0" "324" "0" "c.324T>C" "r.(?)" "p.(Ala108=)" "" "0000911978" "00021591" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Asn144=)" "" "0000923972" "00021591" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Asp65=)" "" "0000923973" "00021591" "50" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Ile61Met)" "" "0000923974" "00021591" "10" "72" "0" "72" "0" "c.72C>T" "r.(?)" "p.(Phe24=)" "" "0000928814" "00021591" "10" "24" "9" "24" "9" "c.24+9C>G" "r.(=)" "p.(=)" "" "0000957727" "00021591" "70" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Asp62Asn)" "" "0000957736" "00021591" "50" "435" "0" "435" "0" "c.435C>A" "r.(?)" "p.(Asp145Glu)" "" "0000962847" "00021591" "50" "209" "0" "209" "0" "c.209G>A" "r.(?)" "p.(Gly70Asp)" "" "0000975926" "00021591" "90" "317" "1" "317" "1" "c.317+1G>A" "r.spl?" "p.?" "" "0001013909" "00021591" "50" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Ser)" "" "0001024846" "00021591" "50" "442" "0" "442" "0" "c.442A>G" "r.(?)" "p.(Ile148Val)" "" "0001024847" "00021591" "50" "170" "0" "170" "0" "c.170T>C" "r.(?)" "p.(Leu57Pro)" "" "0001024848" "00021591" "70" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Ala8Val)" "" "0001034082" "00021591" "50" "113" "0" "113" "0" "c.113C>T" "r.(?)" "p.(Thr38Ile)" "" "0001045093" "00021591" "90" "161" "0" "161" "0" "c.161C>G" "r.(?)" "p.(Pro54Arg)" "3" "0001045094" "00021591" "90" "79" "0" "79" "0" "c.79T>G" "r.(?)" "p.(Phe27Val)" "3" "0001045095" "00021591" "70" "73" "0" "73" "0" "c.73G>A" "r.(?)" "p.(Asp25Asn)" "3" "0001045096" "00021591" "70" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Asp149Asn)" "5" "0001045097" "00021591" "70" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Asp149Asn)" "5" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000058428" "0000089004" "0000064858" "0000096511" "0000229342" "0000470533" "0000296478" "0000653167" "0000319081" "0000701687" "0000319082" "0000701688" "0000319083" "0000701689" "0000418942" "0000878857" "0000448320" "0000957727" "0000448329" "0000957736" "0000467282" "0001045093" "0000467283" "0001045094" "0000467284" "0001045095" "0000467285" "0001045096" "0000467286" "0001045097"