(2[Chromosome]) AND 220290421[Base Position for Assembly GRCh37] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 626715	NM_001927.4(DES):c.1325C>A (p.Thr442Asn)	DES (T442N)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +6 more	GUncertain significance
Select item 16834	NM_001927.4(DES):c.1325C>T (p.Thr442Ile)	DES (T442I)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +1 more	GPathogenic