ClinVar (all) for Orgtrack (Select 500017) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31788	NM_016599.5(MYOZ2):c.237A>G (p.Ala79=)	MYOZ2	Single nucleotide variant (synonymous variant)	Cardiomyopathy +6 more	GBenign
Select item 31787	NM_016599.5(MYOZ2):c.247-18A>G	MYOZ2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 31786	NM_016599.5(MYOZ2):c.459A>G (p.Glu153=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy 16 +3 more	GBenign
Select item 31785	NM_016599.5(MYOZ2):c.-87A>G	MYOZ2	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 30509	NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)	MYOZ2 (I246M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 30508	NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)	MYOZ2 (S48P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16	GLikely pathogenic

ClinVar