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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNOT3
(S104N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNOT3
Microsatellite
(inframe_insertion)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
GUncertain significance
CNOT3
(P395fs)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
GLikely pathogenic
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