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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN2
(L131P)
Single nucleotide variant
(missense variant +1 more)
Myopathy, distal, 6, adult-onset, autosomal dominant
GUncertain significance
ACTN2
(C487R +1 more)
Single nucleotide variant
(missense variant)
Myopathy, distal, 6, adult-onset, autosomal dominant
GLikely pathogenic