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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARID1A
(Q199*)
Single nucleotide variant
(nonsense)
ARID1A-related disorder
+1 more
GLikely pathogenic
ARID1A
(C1751fs +1 more)
Microsatellite
(frameshift variant)
Intellectual disability, autosomal dominant 14
GLikely pathogenic