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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IRAK1BP1, PHIP
Microsatellite
(nonsense)
Schizophrenia
GPathogenic
PHIP
(C188R)
Single nucleotide variant
(missense variant)
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
GLikely pathogenic