C1832370[trait identifier] AND "Blueprint Genetics"[submitter] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 44260	NM_001927.4(DES):c.38C>T (p.Ser13Phe)	DES (S13F)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +2 more	GPathogenic
Select item 222541	NM_001927.4(DES):c.212C>T (p.Ala71Val)	DES (A71V)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 178015	NM_001927.4(DES):c.635G>A (p.Arg212Gln)	DES (R212Q)	Single nucleotide variant (missense variant)	See cases +8 more	GConflicting classifications of pathogenicity
Select item 222542	NM_001927.4(DES):c.643G>A (p.Val215Met)	DES (V215M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1I +7 more	GConflicting classifications of pathogenicity
Select item 281234	NM_001927.4(DES):c.735G>A (p.Glu245=)	DES	Single nucleotide variant (synonymous variant)	Desmin-related myofibrillar myopathy +1 more	GConflicting classifications of pathogenicity
Select item 44244	NM_001927.4(DES):c.1048C>T (p.Arg350Trp)	DES (R350W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +6 more	GConflicting classifications of pathogenicity
Select item 411145	NM_001927.4(DES):c.1064G>A (p.Arg355Gln)	DES (R355Q)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 66402	NM_001927.4(DES):c.1360C>T (p.Arg454Trp)	DES (R454W)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +4 more	GPathogenic/Likely pathogenic