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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
(S13F)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
DES
(A71V)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(E111G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DES
(R212Q)
Single nucleotide variant
(missense variant)
Myofibrillar Myopathy, Dominant
+8 more
GConflicting classifications of pathogenicity
DES
(V215M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+7 more
GConflicting classifications of pathogenicity
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
+1 more
GConflicting classifications of pathogenicity
DES
(R350W)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
DES
(R355Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DES
(E412K)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
DES
(P433T)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
DES
(R454W)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+4 more
GPathogenic/Likely pathogenic
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