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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF142
(Q1009* +2 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
GPathogenic
ZNF142
(R1053fs +2 more)
Duplication
(frameshift variant)
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
GLikely pathogenic
ZNF142
(R255* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
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