"Biesecker Lab/Clinical Genomics Section, National Institutes of Healt - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44265	NM_001927.4(DES):c.638C>T (p.Ala213Val)	DES (A213V)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +8 more	GConflicting classifications of pathogenicity
Select item 66423	NM_001927.4(DES):c.893C>T (p.Ser298Leu)	DES (S298L)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 191615	NM_001927.4(DES):c.1133A>C (p.Lys378Thr)	DES (K378T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 191616	NM_001927.4(DES):c.1361G>A (p.Arg454Gln)	DES (R454Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 44252	NM_001927.4(DES):c.1375G>A (p.Val459Ile)	DES (V459I)	Single nucleotide variant (missense variant)	Myofibrillar Myopathy, Dominant +8 more	GBenign/Likely benign
Select item 191617	NM_001927.4(DES):c.1404A>C (p.Glu468Asp)	DES (E468D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance

ClinVar