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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADNP
(G1094fs)
Duplication
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Gnot provided
ADNP
(N832fs)
Microsatellite
(frameshift variant)
Inborn genetic diseases
+2 more
GPathogenic
ADNP
(L831fs)
Deletion
(frameshift variant)
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
+2 more
GPathogenic/Likely pathogenic
ADNP
(R730*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
ADNP
(Y719*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
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