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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTA1
(F377S)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GLikely pathogenic
ACTA1
(F354L)
Single nucleotide variant
(missense variant)
ACTA1-related myopathies
GLikely pathogenic
ACTA1
(H163Q)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GPathogenic
ACTA1
(A116S)
Single nucleotide variant
(missense variant)
ACTA1-related myopathies
+1 more
GConflicting classifications of pathogenicity
ACTA1
(L96P)
Single nucleotide variant
(missense variant)
ACTA1-related myopathies
+1 more
GPathogenic/Likely pathogenic
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