"Phosphorus, Inc."[submitter] AND "DES"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1339289	NM_001927.4(DES):c.28C>T (p.Arg10Cys)	DES (R10C)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 423612	NM_001927.4(DES):c.77T>A (p.Leu26His)	DES (L26H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1339308	NM_001927.4(DES):c.117T>G (p.Gly39=)	DES	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 488165	NM_001927.4(DES):c.541G>A (p.Asp181Asn)	DES (D181N)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 1088216	NM_001927.4(DES):c.559C>T (p.Leu187=)	DES	Single nucleotide variant (synonymous variant +1 more)	Desmin-related myofibrillar myopathy +2 more	GLikely benign
Select item 227283	NM_001927.4(DES):c.894G>A (p.Ser298=)	DES	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign

ClinVar