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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GATAD2B
(Q399fs)
Deletion
(frameshift variant)
not provided
GPathogenic
GATAD2B
(R116*)
Single nucleotide variant
(nonsense)
GATAD2B-related intellectual disability syndrome
+2 more
GPathogenic