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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTB
Indel
(nonsense)
Developmental malformations-deafness-dystonia syndrome
GLikely pathogenic
ACTB
(R183W)
Single nucleotide variant
(missense variant)
Baraitser-Winter syndrome 1
+4 more
GPathogenic