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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTB
(L65F)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
+1 more
GLikely pathogenic
ACTB
(A58V)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely pathogenic