"Victorian Clinical Genetics Services, Murdoch Childrens Research Inst - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 181678	NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)	TPM1 (R21L)	Single nucleotide variant (missense variant +1 more)	See cases +7 more	GConflicting classifications of pathogenicity
Select item 1487618	NM_001018005.2(TPM1):c.68A>C (p.Glu23Ala)	TPM1 (E23A)	Single nucleotide variant (missense variant)	Familial cardiomyopathy +1 more	GUncertain significance
Select item 1806052	NM_001018005.2(TPM1):c.115-6T>C	TPM1	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy 3	GUncertain significance
Select item 31877	NM_001018005.2(TPM1):c.188C>T (p.Ala63Val)	TPM1 (A63V +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
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 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 43424	NM_001018005.2(TPM1):c.548C>T (p.Ala183Val)	TPM1 (A183V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 31882	NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)	TPM1 (E192K +2 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy 3 +5 more	GPathogenic/Likely pathogenic
Select item 1805657	NM_001018008.2(TPM1):c.707A>G (p.Asn236Ser)	TPM1 (N236S +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy	GUncertain significance