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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
(R70P)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
GUncertain significance
DES, LOC110121267
+2 more
Duplication
Dilated cardiomyopathy 1I
GUncertain significance
DES
(V215M)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+7 more
GConflicting classifications of pathogenicity
DES
(D312N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
DES
(A313T)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
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