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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADNP
(L732fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ADNP
(D573fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GLikely pathogenic