"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TPM1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 316683	NM_001018005.2(TPM1):c.-114G>A	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +1 more	GUncertain significance
Select item 316684	NM_001018005.2(TPM1):c.-106C>T	TPM1	Single nucleotide variant	Hypertrophic cardiomyopathy 3 +2 more	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 1308976	NM_001018005.2(TPM1):c.1A>G (p.Met1Val)	TPM1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +4 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 +2 more	GUncertain significance
Select item 1084618	NM_001018005.2(TPM1):c.93G>C (p.Ala31=)	TPM1	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 646576	NM_001018005.2(TPM1):c.114+3C>T	TPM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 3 +4 more	GUncertain significance
Select item 137695	NM_001018005.2(TPM1):c.115-335G>T	TPM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 3 +3 more	GBenign/Likely benign
Select item 454414	NM_001018005.2(TPM1):c.115-5C>G	TPM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +2 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)	Primary dilated cardiomyopathy +6 more	GUncertain significance
Select item 43408	NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu)	TPM1 (D84E +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 454418	NM_001018005.2(TPM1):c.262C>G (p.Leu88Val)	TPM1 (L88V +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +3 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 628782	NM_001018005.2(TPM1):c.314G>A (p.Arg105His)	TPM1 (R105H +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 3 +3 more	GUncertain significance
Select item 1430748	NM_001018005.2(TPM1):c.511A>G (p.Ile171Val)	TPM1 (I135V +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 43428	NM_001018005.2(TPM1):c.563+249C>T	TPM1	Single nucleotide variant (intron variant)	not specified +2 more	GUncertain significance
Select item 43430	NM_001018005.2(TPM1):c.563+313A>G	TPM1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1Y +4 more	GBenign/Likely benign
Select item 944857	NM_001018005.2(TPM1):c.630G>T (p.Gln210His)	TPM1 (Q174H +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +5 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 +6 more	GLikely benign
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 +6 more	GUncertain significance
Select item 1111156	NM_001018005.2(TPM1):c.852-5C>T	TPM1	Single nucleotide variant (3 prime UTR variant +1 more)	Hypertrophic cardiomyopathy +4 more	GConflicting classifications of pathogenicity

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Items: 22