C1861863[trait identifier] AND "Leiden Muscular Dystrophy (TPM1)"[subm - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 12457	NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)	TPM1 (V95A +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +2 more	GPathogenic/Likely pathogenic
Select item 31888	NM_001018005.2(TPM1):c.453C>A (p.Ala151=)	TPM1	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign
Select item 31889	NM_001018005.2(TPM1):c.486T>C (p.Tyr162=)	TPM1	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +6 more	GBenign/Likely benign
Select item 12456	NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)	TPM1 (D175N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1Y +6 more	GPathogenic
Select item 12455	NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly)	TPM1 (E180G +2 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +1 more	GPathogenic
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 +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)	Hypertrophic cardiomyopathy +4 more	GPathogenic

ClinVar