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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADNP
(Y818*)
Single nucleotide variant
(nonsense)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
GPathogenic
ADNP
(V180fs)
Deletion
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic