C3151204[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45778	NM_016599.5(MYOZ2):c.-3dup	MYOZ2	Duplication	Cardiovascular phenotype +4 more	GBenign
Select item 45780	NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro)	MYOZ2 (Q10P)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 227711	NM_016599.5(MYOZ2):c.39G>A (p.Gln13=)	MYOZ2	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +3 more	GBenign/Likely benign
Select item 138409	NM_016599.5(MYOZ2):c.76+19C>T	MYOZ2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 213655	NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu)	MYOZ2 (P160L)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 16 +4 more	GUncertain significance
Select item 45787	NM_016599.5(MYOZ2):c.750C>T (p.Thr250=)	MYOZ2	Single nucleotide variant (synonymous variant)	MYOZ2-related condition +5 more	GBenign

ClinVar