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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTB
(E364K)
Single nucleotide variant
(missense variant)
Thrombocytopenia
+1 more
GConflicting classifications of pathogenicity
ACTB
(R183W)
Single nucleotide variant
(missense variant)
ACTB-related BAFopathy
+4 more
GPathogenic
ACTB
(T120I)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
GPathogenic
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