Unique variants in the TNNC1 gene

Information The variants shown are described using the NM_003280.2 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-135G>A r.(?) p.(=) - likely benign g.52488166C>T g.52454150C>T - - NISCH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-6G>A r.(?) p.(=) - benign g.52488037C>T g.52454021C>T TNNC1(NM_003280.2):c.-6G>A - NISCH_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.4G>A r.(?) p.(Asp2Asn) - VUS g.52488028C>T g.52454012C>T TNNC1(NM_003280.2):c.4G>A (p.D2N) - TNNC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.5A>T r.(?) p.(Asp2Val) - VUS g.52488027T>A g.52454011T>A - - NISCH_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.16A>C r.(?) p.(Lys6Gln) - VUS g.52488016T>G g.52454000T>G TNNC1(NM_003280.2):c.16A>C (p.K6Q) - TNNC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/., +?/. 2 - c.23C>T r.(?) p.(Ala8Val) - likely pathogenic, pathogenic g.52488009G>A g.52453993G>A TNNC1(NM_003280.2):c.23C>T (p.A8V) - TNNC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.24+9C>G r.(=) p.(=) - likely benign g.52487999G>C g.52453983G>C TNNC1(NM_003280.2):c.24+9C>G - TNNC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.32A>G r.(?) p.(Gln11Arg) - likely pathogenic g.52486522T>C - TNNC1(NM_003280.2):c.32A>G (p.Q11R) - NISCH_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.47A>G r.(?) p.(Gln16Arg) - likely pathogenic g.52486507T>C g.52452491T>C TNNC1(NM_003280.2):c.47A>G (p.(Gln16Arg)) - TNNC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.55+20_55+21del r.(=) p.(=) - likely benign g.52486478_52486479del g.52452462_52452463del TNNC1(NM_003280.2):c.55+20_55+21delAT - NISCH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.55+35G>A r.(=) p.(=) - likely benign g.52486464C>T g.52452448C>T - - NISCH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.56-17C>T r.(=) p.(=) - benign g.52486285G>A g.52452269G>A TNNC1(NM_003280.2):c.56-17C>T - TNNC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.56-16dup r.(=) p.(=) - likely benign g.52486289dup g.52452273dup TNNC1(NM_003280.2):c.56-16dupC - NISCH_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.65C>A r.(?) p.(Ala22Glu) - VUS g.52486259G>T g.52452243G>T - - NISCH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.72C>T r.(?) p.(Phe24=) - likely benign g.52486252G>A g.52452236G>A TNNC1(NM_003280.2):c.72C>T (p.F24=) - TNNC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.79T>G r.(?) p.(Phe27Val) - likely pathogenic g.52486245A>C - - - TNNC1_000037 - - - - Unknown - - - - - MobiDetails
+/. 1 - c.91G>A r.(?) p.(Ala31Thr) - pathogenic g.52486233C>T g.52452217C>T - - TNNC1_000033 26 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs397514616 Germline - 26/2794 individuals - - - Mohammed Faruq
?/. 1 - c.97G>A r.(?) p.(Asp33Asn) - VUS g.52486227C>T - TNNC1(NM_003280.2):c.97G>A (p.D33N) - NISCH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.106dup r.(?) p.(Ile36AsnfsTer20) - VUS g.52486218dup g.52452202dup TNNC1(NM_003280.2):c.106dupA (p.I36Nfs*20) - NISCH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.108C>A r.(?) p.(Ile36=) - benign, likely benign g.52486216G>T g.52452200G>T TNNC1(NM_003280.2):c.108C>A (p.I36=) - TNNC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 2 - c.111C>T r.(?) p.(Ser37=) - likely benign g.52486213G>A g.52452197G>A TNNC1(NM_003280.2):c.111C>T (p.S37=) - TNNC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/., -?/. 2 - c.144G>T r.(?) p.(Leu48=) - benign, likely benign g.52486180C>A g.52452164C>A TNNC1(NM_003280.2):c.144G>T (p.L48=) - TNNC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 3 c.149A>G r.(?) p.(Gln50Arg) - likely pathogenic g.52486175T>C g.52452159T>C 149T>C - TNNC1_000001 - PubMed: van Spaendonck-Zwarts 2014 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.152_153del r.(?) p.(Asn51ThrfsTer4) - likely pathogenic g.52486171_52486172del g.52452155_52452156del - - NISCH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.157A>G r.(?) p.(Thr53Ala) - VUS g.52486167T>C g.52452151T>C TNNC1(NM_003280.2):c.157A>G (p.T53A) - TNNC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.184G>A r.(?) p.(Asp62Asn) - VUS g.52486140C>T g.52452124C>T TNNC1(NM_003280.2):c.184G>A (p.D62N) - NISCH_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.195C>T r.(?) p.(Asp65=) - likely benign g.52486129G>A g.52452113G>A TNNC1(NM_003280.2):c.195C>T (p.D65=) - TNNC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/., -?/. 3 - c.201C>T r.(?) p.(Asp67=) - benign, likely benign g.52486123G>A g.52452107G>A TNNC1(NM_003280.2):c.201C>T (p.D67=) - TNNC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.202G>A r.(?) p.(Gly68Ser) - VUS g.52486122C>T g.52452106C>T TNNC1(NM_003280.2):c.202G>A (p.G68S) - TNNC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.202+5G>C r.spl? p.? - VUS g.52486117C>G g.52452101C>G TNNC1(NM_003280.2):c.202+5G>C - NISCH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.202+6_202+7insG r.(=) p.(=) - likely benign g.52486115_52486116insC g.52452099_52452100insC - - NISCH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.202+12C>T r.(=) p.(=) - benign g.52486110G>A g.52452094G>A TNNC1(NM_003280.2):c.202+12C>T - TNNC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.202+19A>G r.(=) p.(=) - benign g.52486103T>C g.52452087T>C TNNC1(NM_003280.2):c.202+19A>G - TNNC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.203-5C>T r.spl? p.? - benign, likely benign g.52485879G>A g.52451863G>A TNNC1(NM_003280.2):c.203-5C>T - NISCH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.205A>G r.(?) p.(Ser69Gly) - VUS g.52485872T>C g.52451856T>C TNNC1(NM_003280.2):c.205A>G (p.S69G) - TNNC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.210C>T r.(?) p.(Gly70=) - VUS g.52485867G>A g.52451851G>A TNNC1(NM_003280.2):c.210C>T (p.G70=) - TNNC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.216G>A r.(?) p.(Val72=) - likely benign g.52485861C>T g.52451845C>T TNNC1(NM_003280.2):c.216G>A (p.V72=) - NISCH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.248G>A r.(?) p.(Arg83Gln) - VUS g.52485829C>T g.52451813C>T TNNC1(NM_003280.2):c.248G>A (p.R83Q) - NISCH_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
+?/. 1 - c.249dup r.(?) p.(Cys84ValfsTer11) - likely pathogenic g.52485829dup g.52451813dup - - NISCH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.251G>A r.(?) p.(Cys84Tyr) - likely pathogenic g.52485826C>T - - - TNNC1_000036 - - - rs267607126 Unknown - - - - - MobiDetails
+?/., ?/. 2 - c.304C>T r.(?) p.(Arg102Cys) - likely pathogenic, VUS g.52485773G>A g.52451757G>A TNNC1(NM_003280.2):c.304C>T (p.R102C) - NISCH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+/. 2 - c.317+1G>A r.spl? p.? - pathogenic g.52485759C>T g.52451743C>T TNNC1(NM_003280.2):c.317+1G>A - NISCH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.317+9G>A r.(=) p.(=) - benign g.52485751C>T g.52451735C>T TNNC1(NM_003280.2):c.317+9G>A - TNNC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.317+31G>A r.(=) p.(=) - VUS g.52485729C>T g.52451713C>T - - NISCH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.318-30A>G r.(=) p.(=) - likely benign g.52485573T>C g.52451557T>C - - NISCH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.318-10dup r.(=) p.(=) - benign g.52485557dup g.52451541dup - - NISCH_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.393C>T r.(?) p.(Asp131=) - likely benign g.52485468G>A - TNNC1(NM_003280.2):c.393C>T (p.D131=) - NISCH_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.394G>A r.(?) p.(Asp132Asn) - VUS g.52485467C>T g.52451451C>T - - TNNC1_000035 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/156 cases - - - Johan den Dunnen
?/. 1 - c.394_396del r.(?) p.(Asp132del) - VUS g.52485468_52485470del - TNNC1(NM_003280.2):c.394_396delGAC (p.D132del) - NISCH_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 1 - c.400G>A r.(?) p.(Glu134Lys) - likely pathogenic g.52485461C>T g.52451445C>T TNNC1(NM_003280.2):c.400G>A (p.E134K) - TNNC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.417C>T r.(?) p.(Asp139=) - likely benign g.52485444G>A g.52451428G>A TNNC1(NM_003280.2):c.417C>T (p.D139=) - TNNC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.429C>T r.(?) p.(Asn143=) - VUS g.52485432G>A g.52451416G>A TNNC1(NM_003280.2):c.429C>T (p.N143=) - TNNC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.430A>G r.(?) p.(Asn144Asp) - VUS g.52485431T>C g.52451415T>C TNNC1(NM_003280.2):c.430A>G (p.N144D) - TNNC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/., ?/. 2 5 c.433G>A r.(?) p.(Asp145Asn) - likely pathogenic, VUS g.52485428C>T g.52451412C>T TNNC1(NM_003280.2):c.433G>A (p.D145N) - TNNC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Sofie Lindgren Christiansen, VKGL-NL_Rotterdam
?/. 1 - c.435C>A r.(?) p.(Asp145Glu) - VUS g.52485426G>T g.52451410G>T TNNC1(NM_003280.2):c.435C>A (p.D145E) - NISCH_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/., ?/. 4 - c.436G>A r.(?) p.(Gly146Ser) - likely pathogenic, VUS g.52485425C>T g.52451409C>T TNNC1(NM_003280.2):c.436G>A (p.G146S) - NISCH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 2 - c.439C>T r.(?) p.(Arg147Cys) - likely pathogenic g.52485422G>A g.52451406G>A TNNC1(NM_003280.2):c.439C>T (p.R147C) - NISCH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
?/. 1 - c.442A>G r.(?) p.(Ile148Val) - VUS g.52485419T>C g.52451403T>C - - TNNC1_000034 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/156 cases - - - Johan den Dunnen
?/. 2 - c.445G>A r.(?) p.(Asp149Asn) - VUS g.52485416C>T g.52451400C>T TNNC1(NM_003280.2):c.445G>A (p.D149N) - TNNC1_000006 VKGL data sharing initiative Nederland, VUS favour pathogenic PubMed: Walsh 2017 - - CLASSIFICATION record, Germline - 1/156 cases - - - Johan den Dunnen, VKGL-NL_AMC
-/. 1 - c.454+17G>A r.(=) p.(=) - benign g.52485390C>T g.52451374C>T TNNC1(NM_003280.2):c.454+17G>A - TNNC1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.455-20A>C r.(=) p.(=) - benign g.52485342T>G g.52451326T>G TNNC1(NM_003280.2):c.455-20A>C - TNNC1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.456G>A r.(?) p.(Glu152=) - likely benign g.52485321C>T g.52451305C>T - - NISCH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.474G>A r.(?) p.(Lys158=) - likely benign g.52485303C>T g.52451287C>T TNNC1(NM_003280.2):c.474G>A (p.K158=) - TNNC1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.476G>A r.(?) p.(Gly159Asp) - likely pathogenic g.52485301C>T g.52451285C>T G159D - TNNC1_000032 - PubMed: Marston 2015 - - Germline - - - - - Johan den Dunnen
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