TPM1[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogenic[ - ClinVar

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Items: 40

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 434061.	NM_001018005.2(TPM1):c.23T>G (p.Met8Arg) GRCh37: Chr15:63335051 GRCh38: Chr15:63042852	TPM1	M8R	Primary dilated cardiomyopathy	Likely pathogenic (Mar 1, 2008)	no assertion criteria provided
Select item 9156262.	NM_001018005.2(TPM1):c.85AAG[1] (p.Lys30del) GRCh37: Chr15:63335113-63335115 GRCh38: Chr15:63042914-63042916	TPM1	K30del	Cardiomyopathy	Likely pathogenic (Oct 23, 2018)	criteria provided, single submitter
Select item 3700393.	NM_001018005.2(TPM1):c.114+2T>C GRCh37: Chr15:63335144 GRCh38: Chr15:63042945	TPM1		Tetralogy of Fallot	Likely pathogenic	no assertion criteria provided
Select item 8710694.	NM_001018005.2(TPM1):c.128T>C (p.Leu43Pro) GRCh37: Chr15:63336239 GRCh38: Chr15:63044040	TPM1	L85P, L43P	not provided	Likely pathogenic (May 1, 2020)	criteria provided, single submitter
Select item 6916665.	NM_001018005.2(TPM1):c.163G>T (p.Asp55Tyr) GRCh37: Chr15:63336274 GRCh38: Chr15:63044075	TPM1	D97Y, D55Y	Cardiomyopathy	Likely pathogenic (Oct 10, 2017)	criteria provided, single submitter
Select item 434046.	NM_001018005.2(TPM1):c.163G>A (p.Asp55Asn) GRCh37: Chr15:63336274 GRCh38: Chr15:63044075	TPM1	D55N, D97N	Primary dilated cardiomyopathy	Likely pathogenic (Apr 20, 2011)	criteria provided, single submitter
Select item 8031017.	NM_001018005.2(TPM1):c.179A>G (p.Tyr60Cys) GRCh37: Chr15:63336290 GRCh38: Chr15:63044091	TPM1	Y60C, Y102C	Hypertrophic cardiomyopathy 1	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 318768.	NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) GRCh37: Chr15:63336295 GRCh38: Chr15:63044096	TPM1	E62Q, E104Q	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 31, 2018)	criteria provided, single submitter
Select item 2644749.	NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) GRCh37: Chr15:63349193 GRCh38: Chr15:63056994	TPM1	D84N, D126N, D48N	Cardiovascular phenotype, Hypertrophic cardiomyopathy	Likely pathogenic (Aug 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98704910.	NM_001018005.2(TPM1):c.251A>C (p.Asp84Ala) GRCh37: Chr15:63349194 GRCh38: Chr15:63056995	TPM1	D126A, D48A, D84A	not provided	Likely pathogenic (Oct 23, 2020)	criteria provided, single submitter
Select item 18168411.	NM_001018005.2(TPM1):c.276C>G (p.Ile92Met) GRCh37: Chr15:63349219 GRCh38: Chr15:63057020	TPM1	I92M, I134M, I56M	not provided	Pathogenic (Mar 1, 2012)	criteria provided, single submitter
Select item 1245712.	NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) GRCh37: Chr15:63349227 GRCh38: Chr15:63057028	TPM1	V95A, V137A, V59A	Cardiovascular phenotype, not provided, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (May 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 41852313.	NM_001018005.2(TPM1):c.289G>C (p.Glu97Gln) GRCh37: Chr15:63349232 GRCh38: Chr15:63057033	TPM1	E97Q, E139Q, E61Q	not provided	Likely pathogenic (May 13, 2014)	criteria provided, single submitter
Select item 147286214.	NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys) GRCh37: Chr15:63349235 GRCh38: Chr15:63057036	TPM1	E62K, E98K, E140K	Hypertrophic cardiomyopathy	Likely pathogenic (Oct 21, 2021)	criteria provided, single submitter
Select item 4341515.	NM_001018005.2(TPM1):c.341A>G (p.Glu114Gly) GRCh37: Chr15:63349284 GRCh38: Chr15:63057085	TPM1	E114G, E156G, E78G	Primary dilated cardiomyopathy	Likely pathogenic (Nov 14, 2011)	criteria provided, single submitter
Select item 37004116.	NM_001018005.2(TPM1):c.388A>G (p.Ile130Val) GRCh37: Chr15:63351775 GRCh38: Chr15:63059576	TPM1	I130V, I172V, I94V	Pulmonary atresia with intact ventricular septum	Likely pathogenic	no assertion criteria provided
Select item 24291217.	NM_001018005.2(TPM1):c.412G>A (p.Glu138Lys) GRCh37: Chr15:63351799 GRCh38: Chr15:63059600	TPM1	E102K, E138K, E180K	Effort-induced polymorphic ventricular tachycardia	Likely pathogenic (May 26, 2015)	criteria provided, single submitter
Select item 17789618.	NM_001018005.2(TPM1):c.416A>T (p.Glu139Val) GRCh37: Chr15:63351803 GRCh38: Chr15:63059604	TPM1	E139V, E103V, E181V	Primary dilated cardiomyopathy	Likely pathogenic (Jan 23, 2013)	no assertion criteria provided
Select item 4341719.	NM_001018005.2(TPM1):c.423G>C (p.Met141Ile) GRCh37: Chr15:63351810 GRCh38: Chr15:63059611	TPM1	M141I, M183I, M105I	Primary dilated cardiomyopathy	Likely pathogenic (Jan 6, 2012)	criteria provided, single submitter
Select item 3189920.	NM_001018005.2(TPM1):c.479G>A (p.Arg160His) GRCh37: Chr15:63351866 GRCh38: Chr15:63059667	TPM1	R160H, R202H, R124H	not provided, Primary dilated cardiomyopathy, Dilated cardiomyopathy 1Y	Pathogenic/Likely pathogenic (Jun 18, 2020)	criteria provided, multiple submitters, no conflicts
Select item 22829721.	NM_001018005.2(TPM1):c.496G>A (p.Ala166Thr) GRCh37: Chr15:63353071 GRCh38: Chr15:63060872	TPM1	A166T, A130T, A208T	Primary dilated cardiomyopathy	Likely pathogenic (Mar 16, 2016)	criteria provided, single submitter
Select item 25415822.	NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp) GRCh37: Chr15:63353094 GRCh38: Chr15:63060895	TPM1	E173D, E215D, E137D	Dilated cardiomyopathy 1Y	Likely pathogenic (Feb 9, 2016)	criteria provided, single submitter
Select item 1245623.	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) GRCh37: Chr15:63353098 GRCh38: Chr15:63060899	TPM1	D175N, D139N, D217N	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100251324.	NM_001018005.2(TPM1):c.538G>A (p.Glu180Lys) GRCh37: Chr15:63353113 GRCh38: Chr15:63060914	TPM1	E144K, E180K, E222K	Hypertrophic cardiomyopathy	Likely pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 3188025.	NM_001018005.2(TPM1):c.539A>T (p.Glu180Val) GRCh37: Chr15:63353114 GRCh38: Chr15:63060915	TPM1	E180V, E144V, E222V	Hypertrophic cardiomyopathy	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 1245526.	NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly) GRCh37: Chr15:63353114 GRCh38: Chr15:63060915	TPM1	E180G, E222G, E144G	not provided, Hypertrophic cardiomyopathy	Pathogenic (May 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17765927.	NM_001018005.2(TPM1):c.559G>C (p.Glu187Gln) GRCh37: Chr15:63353134 GRCh38: Chr15:63060935	TPM1	E187Q, E229Q, E151Q	Hypertrophic cardiomyopathy	Likely pathogenic (Feb 8, 2013)	no assertion criteria provided
Select item 3188228.	NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) GRCh37: Chr15:63353922 GRCh38: Chr15:63061723	TPM1	E192K, E156K, E234K	Cardiovascular phenotype, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 3, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Nov 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 101234729.	NM_001018005.2(TPM1):c.598G>C (p.Val200Leu) GRCh37: Chr15:63353946 GRCh38: Chr15:63061747	TPM1	V164L, V200L, V242L	Dilated cardiomyopathy 1Y	Likely pathogenic	no assertion criteria provided
Select item 96291930.	NM_001018005.2(TPM1):c.616T>G (p.Ser206Ala) GRCh37: Chr15:63353964 GRCh38: Chr15:63061765	TPM1	S170A, S206A, S248A	Hypertrophic cardiomyopathy	Likely pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 18168631.	NM_001018005.2(TPM1):c.625G>A (p.Ala209Thr) GRCh37: Chr15:63353973 GRCh38: Chr15:63061774	TPM1	A209T, A251T, A173T	not provided	Likely pathogenic (Oct 8, 2014)	criteria provided, single submitter
Select item 42794932.	NM_001018005.1(TPM1):c.640_645del GRCh37: Chr15:63354413-63354418 GRCh38: Chr15:63062214-63062219	TPM1		Hypertrophic cardiomyopathy	Likely pathogenic (Feb 9, 2017)	criteria provided, single submitter
Select item 3188333.	NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) GRCh37: Chr15:63354418 GRCh38: Chr15:63062219	TPM1	S215L, S179L, S257L	Cardiovascular phenotype, not provided, Cardiomyopathy, Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172721934.	NM_001018005.2(TPM1):c.656A>T (p.Asp219Val) GRCh37: Chr15:63354430 GRCh38: Chr15:63062231	TPM1	D183V, D219V, D261V	Hypertrophic cardiomyopathy	Likely pathogenic (Nov 2, 2022)	criteria provided, single submitter
Select item 37004035.	NM_001018005.2(TPM1):c.686C>T (p.Ser229Phe) GRCh37: Chr15:63354460 GRCh38: Chr15:63062261	TPM1	S229F, S193F, S271F	Atrial septal defect 1	Likely pathogenic	no assertion criteria provided
Select item 3188436.	NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) GRCh37: Chr15:63354462 GRCh38: Chr15:63062263	TPM1	D230N, D194N, D272N	not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy	Pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106777337.	NM_001018005.2(TPM1):c.710C>G (p.Thr237Ser) GRCh37: Chr15:63354782 GRCh38: Chr15:63062583	TPM1	T201S, T237S, T279S	Hypertrophic cardiomyopathy	Likely pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 4343638.	NM_001018005.2(TPM1):c.712C>T (p.Arg238Trp) GRCh37: Chr15:63354784 GRCh38: Chr15:63062585	TPM1	R238W, R202W, R280W	Cardiomyopathy	Likely pathogenic (Jul 15, 2014)	criteria provided, single submitter
Select item 3190139.	NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu) GRCh37: Chr15:63354814 GRCh38: Chr15:63062615	TPM1	K248E, K290E, K212E	Left ventricular noncompaction 9	Pathogenic (Aug 1, 2011)	no assertion criteria provided
Select item 69166740.	NM_001018005.2(TPM1):c.749A>T (p.Glu250Val) GRCh37: Chr15:63354821 GRCh38: Chr15:63062622	TPM1	E214V, E292V, E250V	Cardiomyopathy	Likely pathogenic (Sep 8, 2017)	criteria provided, single submitter

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Items: 40