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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
(S57L)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+5 more
GConflicting classifications of pathogenicity
DES
(S72R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DES
(E108K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DES
(A135V)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
DES
(R175H)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+1 more
GUncertain significance
DES
(T219I)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DES
(R222H)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+6 more
GConflicting classifications of pathogenicity
DES
(R227H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
DES
(A270V +3 more)
Single nucleotide variant
(missense variant +1 more)
Desmin-related myofibrillar myopathy
+4 more
GUncertain significance
DES
Single nucleotide variant
(synonymous variant)
Desmin-related myofibrillar myopathy
+3 more
GConflicting classifications of pathogenicity
DES
Deletion
(inframe_deletion)
not provided
+2 more
GUncertain significance
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