Related gene-specific medical variations for Gene (Select 4634) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362887	NM_000258.3(MYL3):c.488G>C (p.Arg163Thr)	MYL3 (R105T +1 more)	Single nucleotide variant (missense variant +1 more)	Hypertrophic cardiomyopathy	GUncertain significance
Select item 1809684	NM_000258.3(MYL3):c.*13G>A	MYL3	Single nucleotide variant (3 prime UTR variant)	Hypertrophic cardiomyopathy 8	GUncertain significance
Select item 903019	NM_000316.3(PTH1R):c.-64C>A	MYL3, PTH1R	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 345573	NM_000316.3(PTH1R):c.-166G>A	MYL3, PTH1R	Single nucleotide variant (5 prime UTR variant)	Chondrodysplasia Blomstrand type +1 more	GUncertain significance
Select item 132986	NM_000258.3(MYL3):c.482-2A>G	MYL3	Single nucleotide variant (splice acceptor variant +1 more)	not provided	Gnot provided
Select item 31784	NM_000258.3(MYL3):c.382G>T (p.Gly128Cys)	MYL3 (G128C)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 31776	NM_000258.3(MYL3):c.167A>G (p.Glu56Gly)	MYL3 (E56G)	Single nucleotide variant (missense variant)	not provided	Gnot provided

ClinVar