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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
(R10C)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
DES
(L26H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DES
(D181N)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GLikely benign
DES
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
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