U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
Single nucleotide variant
(5 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DES
(S13F)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+2 more
GPathogenic
DES
(S72R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DES
(D213Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
GUncertain significance
DES
(E283del +4 more)
Microsatellite
(inframe_deletion +1 more)
Dilated cardiomyopathy 1I
+2 more
GUncertain significance
Format
Sort by
Choose Destination