"Center for Human Genetics, University of Leuven"[submitter] AND "TPM1 - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43443	NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn)	TPM1 (D28N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 31876	NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln)	TPM1 (E62Q +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GLikely pathogenic
Select item 427949	NM_001018005.1(TPM1):c.640_645del	TPM1	Deletion	Hypertrophic cardiomyopathy	GLikely pathogenic
Select item 181674	NM_001018005.2(TPM1):c.787C>G (p.Gln263Glu)	TPM1 (Q263E +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 188708	NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr)	TPM1 (I284T +3 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy +1 more	GUncertain significance

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