TNNC1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic - ClinVar - NCBI

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Items: 10

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 124411.	NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) GRCh37: Chr3:52485301 GRCh38: Chr3:52451285	TNNC1	G159D	not provided	Likely pathogenic (Jan 13, 2020)	criteria provided, single submitter
Select item 16871452.	NM_003280.3(TNNC1):c.454G>A (p.Glu152Lys) GRCh37: Chr3:52485407 GRCh38: Chr3:52451391	TNNC1	E152K	Dilated cardiomyopathy 1Z	Pathogenic (Apr 30, 2022)	no assertion criteria provided
Select item 12976613.	NM_003280.3(TNNC1):c.317+1G>A GRCh37: Chr3:52485759 GRCh38: Chr3:52451743	TNNC1		not provided	Pathogenic	no assertion criteria provided
Select item 1815644.	NM_003280.3(TNNC1):c.290T>A (p.Leu97Gln) GRCh37: Chr3:52485787 GRCh38: Chr3:52451771	TNNC1	L97Q	not provided	Likely pathogenic (Apr 8, 2013)	criteria provided, single submitter
Select item 10665225.	NM_003280.3(TNNC1):c.168G>C (p.Glu56Asp) GRCh37: Chr3:52486156 GRCh38: Chr3:52452140	TNNC1	E56D	Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 2350606.	NM_003280.3(TNNC1):c.161C>A (p.Pro54His) GRCh37: Chr3:52486163 GRCh38: Chr3:52452147	TNNC1	P54H	not provided	Likely pathogenic (Jan 9, 2013)	criteria provided, single submitter
Select item 2652727.	NM_003280.3(TNNC1):c.141G>T (p.Met47Ile) GRCh37: Chr3:52486183 GRCh38: Chr3:52452167	TNNC1	M47I	not provided	Likely pathogenic (May 13, 2016)	criteria provided, single submitter
Select item 398328.	NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) GRCh37: Chr3:52486233 GRCh38: Chr3:52452217	TNNC1	A31S	Hypertrophic cardiomyopathy 13	Pathogenic (Sep 14, 2012)	no assertion criteria provided
Select item 124439.	NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) GRCh37: Chr3:52488009 GRCh38: Chr3:52453993	TNNC1	A8V	Cardiovascular phenotype, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13, Dilated cardiomyopathy 1Z, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 18157010.	NM_003280.3(TNNC1):c.8A>T (p.Asp3Val) GRCh37: Chr3:52488024 GRCh38: Chr3:52454008	TNNC1	D3V	not provided	Likely pathogenic (May 2, 2014)	criteria provided, single submitter