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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
(E245D)
Single nucleotide variant
(missense variant)
Desmin-related myofibrillar myopathy
+2 more
GPathogenic/Likely pathogenic
DES
(A337T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1I
+5 more
GUncertain significance