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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX6
(T391I)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
DDX6
(T391P)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with impaired language and dysmorphic facies
GPathogenic
DDX6
(C390R)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with impaired language and dysmorphic facies
GPathogenic
DDX6
(R373Q)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with impaired language and dysmorphic facies
GPathogenic
DDX6
(H372R)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with impaired language and dysmorphic facies
GPathogenic
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