ClinVar for MedGen (Select 437215) - ClinVar

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Items: 73

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25001031.	NM_001018005.2(TPM1):c.772+63A>G GRCh37: Chr15:63354907 GRCh38: Chr15:63062708	TPM1	I243V, I279V	Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 18031772.	NM_001018005.2(TPM1):c.7G>T (p.Ala3Ser) GRCh37: Chr15:63335035 GRCh38: Chr15:63042836	TPM1	A3S	Dilated cardiomyopathy 1Y	Uncertain significance (Jan 24, 2022)	criteria provided, single submitter
Select item 16772463.	NM_005120.3(MED12):c.1249G>A (p.Val417Ile) GRCh37: ChrX:70342358 GRCh38: ChrX:71122508	MED12	V417I	FG syndrome 1	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 14307484.	NM_001018005.2(TPM1):c.511A>G (p.Ile171Val) GRCh37: Chr15:63353086 GRCh38: Chr15:63060887	TPM1	I135V, I213V, I171V	Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Cardiovascular phenotype, Hypertrophic cardiomyopathy	Uncertain significance (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13741935.	NM_001018005.2(TPM1):c.2T>C (p.Met1Thr) GRCh37: Chr15:63335030 GRCh38: Chr15:63042831	TPM1	M1T	Hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13422546.	NM_001018005.2(TPM1):c.30_31insATTTT GRCh37: Chr15:63358128-63358129 GRCh38: Chr15:63065929-63065930	TPM1	S234fs, S270fs	Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Benign (Sep 10, 2021)	criteria provided, single submitter
Select item 13089767.	NM_001018005.2(TPM1):c.1A>G (p.Met1Val) GRCh37: Chr15:63335029 GRCh38: Chr15:63042830	TPM1	M1V	Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, not provided, Cardiovascular phenotype	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11933508.	NM_001018005.2(TPM1):c.772+163G>C GRCh37: Chr15:63355007 GRCh38: Chr15:63062808	TPM1		not provided, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Conflicting interpretations of pathogenicity (Mar 30, 2021)	criteria provided, conflicting interpretations
Select item 11111569.	NM_001018005.2(TPM1):c.852-5C>T GRCh37: Chr15:63358090 GRCh38: Chr15:63065891	TPM1		Cardiovascular phenotype, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Jan 17, 2023)	criteria provided, conflicting interpretations
Select item 108461810.	NM_001018005.2(TPM1):c.93G>C (p.Ala31=) GRCh37: Chr15:63335121 GRCh38: Chr15:63042922	TPM1		Cardiovascular phenotype, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy	Likely benign (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103002611.	NM_001018005.2(TPM1):c.550G>A (p.Glu184Lys) GRCh37: Chr15:63353125 GRCh38: Chr15:63060926	TPM1	E148K, E184K, E226K	not provided, Dilated cardiomyopathy 1Y	Uncertain significance (Jul 10, 2020)	criteria provided, multiple submitters, no conflicts
Select item 101234712.	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 99258713.	NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr) GRCh37: Chr15:63349199 GRCh38: Chr15:63057000	TPM1	A128T, A50T, A86T	not provided, Dilated cardiomyopathy 1Y	Conflicting interpretations of pathogenicity (Apr 7, 2021)	criteria provided, conflicting interpretations
Select item 94485714.	NM_001018005.2(TPM1):c.630G>T (p.Gln210His) GRCh37: Chr15:63353978 GRCh38: Chr15:63061779	TPM1	Q174H, Q210H, Q252H	Cardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy	Uncertain significance (Oct 31, 2021)	criteria provided, multiple submitters, no conflicts
Select item 93198215.	NM_001018005.2(TPM1):c.678G>C (p.Lys226Asn) GRCh37: Chr15:63354452 GRCh38: Chr15:63062253	TPM1	K190N, K226N, K268N	Dilated cardiomyopathy 1Y	Uncertain significance (Jan 1, 2016)	criteria provided, single submitter
Select item 93136516.	NM_001018005.2(TPM1):c.115-213G>C GRCh37: Chr15:63336013 GRCh38: Chr15:63043814	TPM1	E75Q	Dilated cardiomyopathy 1Y	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter
Select item 93085817.	NM_001018005.2(TPM1):c.391G>C (p.Glu131Gln) GRCh37: Chr15:63351778 GRCh38: Chr15:63059579	TPM1	E95Q, E131Q, E173Q	Dilated cardiomyopathy 1Y	Uncertain significance (Jan 27, 2020)	criteria provided, single submitter
Select item 92604118.	NM_001018005.2(TPM1):c.-7C>A GRCh37: Chr15:63335022 GRCh38: Chr15:63042823	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy	Uncertain significance (Oct 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92530319.	NM_001018005.2(TPM1):c.272G>A (p.Arg91His) GRCh37: Chr15:63349215 GRCh38: Chr15:63057016	TPM1	R55H, R91H, R133H	Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Nov 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 92478020.	NM_001018005.2(TPM1):c.563+6C>T GRCh37: Chr15:63353144 GRCh38: Chr15:63060945	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy	Likely benign (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 88841721.	NM_001018005.2(TPM1):c.*128C>T GRCh37: Chr15:63358226 GRCh38: Chr15:63066027	TPM1		Hypertrophic cardiomyopathy 3, not provided, Dilated cardiomyopathy 1Y	Conflicting interpretations of pathogenicity (May 9, 2018)	criteria provided, conflicting interpretations
Select item 88835322.	NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) GRCh37: Chr15:63349214 GRCh38: Chr15:63057015	TPM1	R55C, R91C, R133C	Cardiovascular phenotype, Cardiomyopathy, not provided, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Dec 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 88716023.	NM_001018005.2(TPM1):c.*37G>A GRCh37: Chr15:63358135 GRCh38: Chr15:63065936	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 88715924.	NM_001018005.2(TPM1):c.*11T>G GRCh37: Chr15:63358109 GRCh38: Chr15:63065910	TPM1	F227V, F263V	Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88715825.	NM_001018005.2(TPM1):c.840T>C (p.Asp280=) GRCh37: Chr15:63356330 GRCh38: Chr15:63064131	TPM1		Cardiomyopathy, Cardiovascular phenotype, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, not provided, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 88708526.	NM_001018005.2(TPM1):c.6C>T (p.Asp2=) GRCh37: Chr15:63335034 GRCh38: Chr15:63042835	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 88708427.	NM_001018005.2(TPM1):c.-47G>T GRCh37: Chr15:63334982 GRCh38: Chr15:63042783	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88607628.	NM_001018005.1(TPM1):c.-185G>C GRCh37: Chr15:63334844 GRCh38: Chr15:63042645	TPM1		not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Conflicting interpretations of pathogenicity (Mar 23, 2018)	criteria provided, conflicting interpretations
Select item 88531029.	NM_001018005.2(TPM1):c.*209T>C GRCh37: Chr15:63358307 GRCh38: Chr15:63066108	TPM1		Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 70238930.	NM_001018005.2(TPM1):c.474C>T (p.Ala158=) GRCh37: Chr15:63351861 GRCh38: Chr15:63059662	TPM1		Cardiovascular phenotype, Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 64657631.	NM_001018005.2(TPM1):c.114+3C>T GRCh37: Chr15:63335145 GRCh38: Chr15:63042946	TPM1		Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Cardiovascular phenotype, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Apr 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 62878232.	NM_001018005.2(TPM1):c.314G>A (p.Arg105His) GRCh37: Chr15:63349257 GRCh38: Chr15:63057058	TPM1	R105H, R69H, R147H	Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy	Uncertain significance (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45441833.	NM_001018005.2(TPM1):c.262C>G (p.Leu88Val) GRCh37: Chr15:63349205 GRCh38: Chr15:63057006	TPM1	L88V, L130V, L52V	Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 45441434.	NM_001018005.2(TPM1):c.115-5C>G GRCh37: Chr15:63336221 GRCh38: Chr15:63044022	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Uncertain significance (Sep 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 38924735.	NM_001018005.2(TPM1):c.783C>T (p.Tyr261=) GRCh37: Chr15:63356273 GRCh38: Chr15:63064074	TPM1		Cardiovascular phenotype, not specified, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy, Hypertrophic cardiomyopathy	Likely benign (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 31669336.	NM_001018005.2(TPM1):c.*148G>T GRCh37: Chr15:63358246 GRCh38: Chr15:63066047	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, not provided	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31669237.	NM_001018005.2(TPM1):c.*145A>G GRCh37: Chr15:63358243 GRCh38: Chr15:63066044	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31669038.	NM_001018005.2(TPM1):c.*76A>G GRCh37: Chr15:63358174 GRCh38: Chr15:63065975	TPM1		not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts
Select item 31668939.	NM_001018005.2(TPM1):c.*68A>G GRCh37: Chr15:63358166 GRCh38: Chr15:63065967	TPM1	I246V, I282V	not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Conflicting interpretations of pathogenicity (Jan 13, 2018)	criteria provided, conflicting interpretations
Select item 31668840.	NM_001018005.2(TPM1):c.564-5A>T GRCh37: Chr15:63353907 GRCh38: Chr15:63061708	TPM1		Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31668741.	NM_001018005.2(TPM1):c.249C>T (p.Ala83=) GRCh37: Chr15:63349192 GRCh38: Chr15:63056993	TPM1		Hypertrophic cardiomyopathy 3, not provided, Cardiomyopathy, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 31668542.	NM_001018005.1(TPM1):c.-94G>C GRCh37: Chr15:63334935 GRCh38: Chr15:63042736	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 31668443.	NM_001018005.1(TPM1):c.-106C>T GRCh37: Chr15:63334923 GRCh38: Chr15:63042724	TPM1		Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Jul 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31668344.	NM_001018005.1(TPM1):c.-114G>A GRCh37: Chr15:63334915 GRCh38: Chr15:63042716	TPM1		Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y	Uncertain significance (Aug 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 31668245.	NM_001018005.1(TPM1):c.-186G>A GRCh37: Chr15:63334843 GRCh38: Chr15:63042644	TPM1		not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 25415846.	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 22284447.	NM_001018005.2(TPM1):c.240+4493G>A GRCh37: Chr15:63340844 GRCh38: Chr15:63048645	TPM1-AS, LOC100128979, TPM1	A24T	Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1Y	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17814648.	NM_001018005.2(TPM1):c.375-3C>T GRCh37: Chr15:63351759 GRCh38: Chr15:63059560	TPM1		Cardiovascular phenotype, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 17776149.	NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys) GRCh37: Chr15:63349286 GRCh38: Chr15:63057087	TPM1	E115K, E157K, E79K	not specified, not provided, Cardiomyopathy, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Dec 10, 2021)	criteria provided, conflicting interpretations
Select item 16557050.	NM_001018005.2(TPM1):c.564-11G>A GRCh37: Chr15:63353901 GRCh38: Chr15:63061702	TPM1		not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Sep 11, 2022)	criteria provided, conflicting interpretations
Select item 13769751.	NM_001018005.2(TPM1):c.114+14C>T GRCh37: Chr15:63335156 GRCh38: Chr15:63042957	TPM1		not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 13769552.	NM_001018005.2(TPM1):c.115-335G>T GRCh37: Chr15:63335891 GRCh38: Chr15:63043692	TPM1		not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Cardiomyopathy	Benign/Likely benign (Jul 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4344953.	NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) GRCh37: Chr15:63356335 GRCh38: Chr15:63064136	TPM1	T282S, T246S	Cardiovascular phenotype, not provided, Cardiomyopathy, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 4344254.	NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr) GRCh37: Chr15:63356319 GRCh38: Chr15:63064120	TPM1	A277T, A241T	not specified, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4343755.	NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) GRCh37: Chr15:63354797 GRCh38: Chr15:63062598	TPM1	A242V, A206V, A284V	not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 4343056.	NM_001018005.2(TPM1):c.563+313A>G GRCh37: Chr15:63353451 GRCh38: Chr15:63061252	TPM1		not specified, not provided, Cardiomyopathy, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 4342857.	NM_001018005.2(TPM1):c.563+249C>T GRCh37: Chr15:63353387 GRCh38: Chr15:63061188	TPM1		not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3	Uncertain significance (Aug 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4342358.	NM_001018005.2(TPM1):c.533G>A (p.Arg178His) GRCh37: Chr15:63353108 GRCh38: Chr15:63060909	TPM1	R178H, R220H, R142H	Cardiovascular phenotype, not specified, not provided, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Aug 18, 2022)	criteria provided, conflicting interpretations
Select item 4342259.	NM_001018005.2(TPM1):c.522C>T (p.Ser174=) GRCh37: Chr15:63353097 GRCh38: Chr15:63060898	TPM1		Cardiovascular phenotype, not provided, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 4342160.	NM_001018005.2(TPM1):c.493-6C>T GRCh37: Chr15:63353062 GRCh38: Chr15:63060863	TPM1		not specified, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy 3, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Apr 17, 2021)	criteria provided, conflicting interpretations
Select item 4342061.	NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) GRCh37: Chr15:63351862 GRCh38: Chr15:63059663	TPM1	D159N, D123N, D201N	Familial cardiomyopathy, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 4341062.	NM_001018005.2(TPM1):c.27G>A (p.Gln9=) GRCh37: Chr15:63335055 GRCh38: Chr15:63042856	TPM1		Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 4340863.	NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu) GRCh37: Chr15:63349195 GRCh38: Chr15:63056996	TPM1	D84E, D48E, D126E	not specified, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Nov 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 4340364.	NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter) GRCh37: Chr15:63336229 GRCh38: Chr15:63044030	TPM1	E40, E82	Cardiovascular phenotype, not specified, not provided, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Cardiomyopathy, Hypertrophic cardiomyopathy	Uncertain significance (Sep 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3189965.	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 3188966.	NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) GRCh37: Chr15:63351873 GRCh38: Chr15:63059674	TPM1		Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3188867.	NM_001018005.2(TPM1):c.453C>A (p.Ala151=) GRCh37: Chr15:63351840 GRCh38: Chr15:63059641	TPM1		Cardiovascular phenotype, not specified, Cardiomyopathy, Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 3, Dilated cardiomyopathy 1Y, Hypertrophic cardiomyopathy	Benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3188568.	NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) GRCh37: Chr15:63356332 GRCh38: Chr15:63064133	TPM1	M281T, M245T	Cardiovascular phenotype, not specified, not provided, Cardiomyopathy, Dilated cardiomyopathy 1Y, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 3188469.	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, Primary dilated cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 3188370.	NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) GRCh37: Chr15:63354418 GRCh38: Chr15:63062219	TPM1	S215L, S179L, S257L	Cardiomyopathy, not provided, Cardiovascular phenotype, Dilated cardiomyopathy 1Y, Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy	Pathogenic/Likely pathogenic (Apr 12, 2023)	criteria provided, multiple submitters, no conflicts
Select item 1245971.	NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) GRCh37: Chr15:63336229 GRCh38: Chr15:63044030	TPM1	E40K, E82K	Hypertrophic cardiomyopathy	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 1245872.	NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) GRCh37: Chr15:63336271 GRCh38: Chr15:63044072	TPM1	E54K, E96K	not provided, Hypertrophic cardiomyopathy	Conflicting interpretations of pathogenicity (Aug 13, 2021)	criteria provided, conflicting interpretations
Select item 1245673.	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 (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts

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Items: 73