"DES"[GENE] "c.1280A>G"[VARNAME] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201710	NM_001927.4(DES):c.1280A>G (p.Asn427Ser)	DES (N427S)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GUncertain significance
Select item 1913197	NM_001927.4(DES):c.1301A>G (p.Glu434Gly)	DES (E427G +5 more)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy	GUncertain significance