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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DES
Deletion
(inframe_deletion)
Desmin-related myofibrillar myopathy
GPathogenic
DES
(R212Q)
Single nucleotide variant
(missense variant)
Neurogenic scapuloperoneal syndrome, Kaeser type
+8 more
GConflicting classifications of pathogenicity
DES
(A221V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
DES
(A337P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
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