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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA1
(D313fs)
Deletion
(frameshift variant)
Alpha-actinopathy
GLikely pathogenic
ACTA1
(V221L)
Single nucleotide variant
(missense variant)
Alpha-actinopathy
GUncertain significance