C1837471[trait identifier] AND "Clinical Genetics DNA and cytogenetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 345569	NM_000258.3(MYL3):c.*13+5G>C	MYL3	Single nucleotide variant (intron variant)	Cardiomyopathy +2 more	GLikely benign
Select item 36648	NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)	MYL3 (E177G)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 227621	NM_000258.3(MYL3):c.307+15C>T	MYL3	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 181441	NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)	MYL3 (G74R)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 8 +4 more	GConflicting classifications of pathogenicity
Select item 43119	NM_000258.3(MYL3):c.130-14G>T	MYL3	Single nucleotide variant (intron variant)	Hypertrophic cardiomyopathy +4 more	GBenign/Likely benign
Select item 43130	NM_000258.3(MYL3):c.81T>C (p.Pro27=)	MYL3	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 43129	NM_000258.3(MYL3):c.69C>T (p.Pro23=)	MYL3	Single nucleotide variant (synonymous variant)	Hypertrophic cardiomyopathy +5 more	GBenign
Select item 164491	NM_000258.3(MYL3):c.4G>C (p.Ala2Pro)	MYL3 (A2P)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity

ClinVar