ClinVar for MedGen (Select 437215) - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064898	NM_001018005.2(TPM1):c.115-276G>A	TPM1 (E54K)	Single nucleotide variant (missense variant +2 more)	Dilated cardiomyopathy 1Y	GUncertain significance
Select item 2584622	NM_001018005.2(TPM1):c.563+53C>G	TPM1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Y +1 more	GUncertain significance
Select item 2500103	NM_001018005.2(TPM1):c.772+63A>G	TPM1 (I243V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1803177	NM_001018005.2(TPM1):c.7G>T (p.Ala3Ser)	TPM1 (A3S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y	GUncertain significance
Select item 1677246	NM_005120.3(MED12):c.1249G>A (p.Val417Ile)	MED12 (V417I)	Single nucleotide variant (missense variant)	FG syndrome	GUncertain significance
Select item 1430748	NM_001018005.2(TPM1):c.511A>G (p.Ile171Val)	TPM1 (I135V +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y +3 more	GUncertain significance
Select item 1374193	NM_001018005.2(TPM1):c.2T>C (p.Met1Thr)	TPM1 (M1T)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 3 +2 more	GUncertain significance
Select item 1342254	NM_001018005.2(TPM1):c.30_31insATTTT	TPM1 (S234fs +1 more)	Insertion (3 prime UTR variant +2 more)	Hypertrophic cardiomyopathy 3 +1 more	GBenign
Select item 1308976	NM_001018005.2(TPM1):c.1A>G (p.Met1Val)	TPM1 (M1V)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 3 +3 more	GUncertain significance
Select item 1193350	NM_001018005.2(TPM1):c.772+163G>C	TPM1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Y +2 more	GConflicting classifications of pathogenicity
Select item 1111156	NM_001018005.2(TPM1):c.852-5C>T	TPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 1084618	NM_001018005.2(TPM1):c.93G>C (p.Ala31=)	TPM1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Y +3 more	GLikely benign
Select item 1030026	NM_001018005.2(TPM1):c.550G>A (p.Glu184Lys)	TPM1 (E148K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1012347	NM_001018005.2(TPM1):c.598G>C (p.Val200Leu)	TPM1 (V164L +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1Y	GLikely pathogenic
Select item 992587	NM_001018005.2(TPM1):c.256G>A (p.Ala86Thr)	TPM1 (A128T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 944857	NM_001018005.2(TPM1):c.630G>T (p.Gln210His)	TPM1 (Q174H +2 more)	Single nucleotide variant (missense variant +1 more)	Cardiomyopathy +4 more	GUncertain significance
Select item 931982	NM_001018005.2(TPM1):c.678G>C (p.Lys226Asn)	TPM1 (K190N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y	GUncertain significance
Select item 931365	NM_001018005.2(TPM1):c.115-213G>C	TPM1 (E75Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1Y	GUncertain significance
Select item 930858	NM_001018005.2(TPM1):c.391G>C (p.Glu131Gln)	TPM1 (E95Q +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y	GUncertain significance
Select item 926041	NM_001018005.2(TPM1):c.-7C>A	TPM1	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1Y +2 more	GUncertain significance
Select item 925303	NM_001018005.2(TPM1):c.272G>A (p.Arg91His)	TPM1 (R55H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 924780	NM_001018005.2(TPM1):c.563+6C>T	TPM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 3 +2 more	GLikely benign
Select item 888417	NM_001018005.2(TPM1):c.*128C>T	TPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 3 +2 more	GConflicting classifications of pathogenicity
Select item 888353	NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys)	TPM1 (R55C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 887160	NM_001018005.2(TPM1):c.*37G>A	TPM1	Single nucleotide variant (3 prime UTR variant +2 more)	TPM1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 887159	NM_001018005.2(TPM1):c.*11T>G	TPM1 (F227V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 887158	NM_001018005.2(TPM1):c.840T>C (p.Asp280=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	TPM1-related condition +6 more	GConflicting classifications of pathogenicity
Select item 887085	NM_001018005.2(TPM1):c.6C>T (p.Asp2=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 887084	NM_001018005.2(TPM1):c.-47G>T	TPM1	Single nucleotide variant (5 prime UTR variant)	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 886076	NM_001018005.1(TPM1):c.-185G>C	TPM1	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 885310	NM_001018005.2(TPM1):c.*209T>C	TPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1Y +1 more	GUncertain significance
Select item 702389	NM_001018005.2(TPM1):c.474C>T (p.Ala158=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 646576	NM_001018005.2(TPM1):c.114+3C>T	TPM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GUncertain significance
Select item 628782	NM_001018005.2(TPM1):c.314G>A (p.Arg105His)	TPM1 (R105H +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 more	GUncertain significance
Select item 454418	NM_001018005.2(TPM1):c.262C>G (p.Leu88Val)	TPM1 (L88V +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y +3 more	GUncertain significance
Select item 454414	NM_001018005.2(TPM1):c.115-5C>G	TPM1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Y +2 more	GUncertain significance
Select item 389247	NM_001018005.2(TPM1):c.783C>T (p.Tyr261=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GLikely benign
Select item 316693	NM_001018005.2(TPM1):c.*148G>T	TPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy 3 +2 more	GBenign/Likely benign
Select item 316692	NM_001018005.2(TPM1):c.*145A>G	TPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated cardiomyopathy 1Y +1 more	GUncertain significance
Select item 316690	NM_001018005.2(TPM1):c.*76A>G	TPM1	Single nucleotide variant (3 prime UTR variant +2 more)	Hypertrophic cardiomyopathy 3 +2 more	GBenign/Likely benign
Select item 316689	NM_001018005.2(TPM1):c.*68A>G	TPM1 (I246V +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Dilated cardiomyopathy 1Y +3 more	GConflicting classifications of pathogenicity
Select item 316688	NM_001018005.2(TPM1):c.564-5A>T	TPM1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Y +1 more	GUncertain significance
Select item 316687	NM_001018005.2(TPM1):c.249C>T (p.Ala83=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 316685	NM_001018005.1(TPM1):c.-94G>C	TPM1	Single nucleotide variant	Dilated cardiomyopathy 1Y +1 more	GUncertain significance
Select item 316684	NM_001018005.1(TPM1):c.-106C>T	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 316683	NM_001018005.1(TPM1):c.-114G>A	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 316682	NM_001018005.1(TPM1):c.-186G>A	TPM1	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254158	NM_001018005.2(TPM1):c.519G>C (p.Glu173Asp)	TPM1 (E173D +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y	GLikely pathogenic
Select item 222844	NM_001018005.2(TPM1):c.240+4493G>A	LOC130057222, TPM1 +1 more (A24T)	Single nucleotide variant (non-coding transcript variant +2 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 222843	NM_001018005.2(TPM1):c.44A>G (p.Lys15Arg)	TPM1 (K15R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y +1 more	GUncertain significance
Select item 181678	NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	TPM1 (R21L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +7 more	GConflicting classifications of pathogenicity
Select item 178146	NM_001018005.2(TPM1):c.375-3C>T	TPM1	Single nucleotide variant (intron variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 177761	NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys)	TPM1 (E115K +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 165570	NM_001018005.2(TPM1):c.564-11G>A	TPM1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 137697	NM_001018005.2(TPM1):c.114+14C>T	TPM1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 137695	NM_001018005.2(TPM1):c.115-335G>T	TPM1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 43449	NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser)	TPM1 (T282S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 43442	NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)	TPM1 (A277T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GUncertain significance
Select item 43437	NM_001018005.2(TPM1):c.725C>T (p.Ala242Val)	TPM1 (A242V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 43430	NM_001018005.2(TPM1):c.563+313A>G	TPM1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 43428	NM_001018005.2(TPM1):c.563+249C>T	TPM1	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 43423	NM_001018005.2(TPM1):c.533G>A (p.Arg178His)	TPM1 (R178H +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 43422	NM_001018005.2(TPM1):c.522C>T (p.Ser174=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43421	NM_001018005.2(TPM1):c.493-6C>T	TPM1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43420	NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)	TPM1 (D159N +2 more)	Single nucleotide variant (missense variant)	Familial cardiomyopathy +5 more	GPathogenic/Likely pathogenic
Select item 43410	NM_001018005.2(TPM1):c.27G>A (p.Gln9=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
Select item 43408	NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu)	TPM1 (D84E +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 3 +4 more	GUncertain significance
Select item 43403	NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter)	TPM1 (E40* +1 more)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 31899	NM_001018005.2(TPM1):c.479G>A (p.Arg160His)	TPM1 (R160H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 31889	NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +6 more	GBenign/Likely benign
Select item 31888	NM_001018005.2(TPM1):c.453C>A (p.Ala151=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 31885	NM_001018005.2(TPM1):c.842T>C (p.Met281Thr)	TPM1 (M281T +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 31884	NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn)	TPM1 (D230N +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 31883	NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu)	TPM1 (S215L +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GPathogenic/Likely pathogenic
Select item 12459	NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys)	TPM1 (E40K +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 12458	NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys)	TPM1 (E54K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 12456	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)	TPM1 (D175N +2 more)	Single nucleotide variant (missense variant)	Cardiomyopathy +6 more	GPathogenic

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Items: 77