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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNOT3
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
GUncertain significance
CNOT3
(R81S)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
GLikely pathogenic
CNOT3
(S305T)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
GUncertain significance
CNOT3
Single nucleotide variant
(synonymous variant)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
GUncertain significance
CNOT3
(P457T)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
GUncertain significance
CNOT3
(M546V)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
+1 more
GUncertain significance
CNOT3
(P585L)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with speech delay, autism, and dysmorphic facies
GUncertain significance
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