"Illumina Laboratory Services, Illumina"[submitter] AND "TPM1"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369093	NM_001018005.1(TPM1):c.-206G>A	TPM1	Single nucleotide variant	Dilated Cardiomyopathy, Dominant +2 more	GBenign/Likely benign
Select item 316682	NM_001018005.1(TPM1):c.-186G>A	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +2 more	GConflicting classifications of pathogenicity
Select item 886076	NM_001018005.1(TPM1):c.-185G>C	TPM1	Single nucleotide variant	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316683	NM_001018005.1(TPM1):c.-114G>A	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +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 316685	NM_001018005.1(TPM1):c.-94G>C	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 316686	NM_001018005.2(TPM1):c.-48C>T	TPM1	Single nucleotide variant (5 prime UTR variant)	Dilated Cardiomyopathy, Dominant +1 more	GUncertain significance
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 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 43410	NM_001018005.2(TPM1):c.27G>A (p.Gln9=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 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 316687	NM_001018005.2(TPM1):c.249C>T (p.Ala83=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 3 +4 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 178146	NM_001018005.2(TPM1):c.375-3C>T	TPM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 31888	NM_001018005.2(TPM1):c.453C>A (p.Ala151=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +7 more	GBenign/Likely benign
Select item 702389	NM_001018005.2(TPM1):c.474C>T (p.Ala158=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity
Select item 31889	NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)	TPM1	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1Y +6 more	GBenign/Likely benign
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 43422	NM_001018005.2(TPM1):c.522C>T (p.Ser174=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 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 316688	NM_001018005.2(TPM1):c.564-5A>T	TPM1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1Y +1 more	GUncertain significance
Select item 887158	NM_001018005.2(TPM1):c.840T>C (p.Asp280=)	TPM1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +6 more	GConflicting classifications of pathogenicity
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 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 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 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 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 316691	NM_001018005.2(TPM1):c.*97CT[2]	TPM1	Microsatellite (3 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +1 more	GUncertain significance
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 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 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 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 316694	NM_001018004.2(TPM1):c.*119T>C	TPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Dilated Cardiomyopathy, Dominant +2 more	GLikely benign

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Items: 33