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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANK2
(R1001* +35 more)
Single nucleotide variant
(nonsense)
ANK2-associated Neurodevelopmental Disorder
GPathogenic
ANK2
(E1344* +43 more)
Single nucleotide variant
(nonsense)
ANK2-associated Neurodevelopmental Disorder
GPathogenic
ANK2
(I1002fs +50 more)
Deletion
(frameshift variant +1 more)
ANK2-associated Neurodevelopmental Disorder
GLikely benign
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