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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZMYND11
(R358* +14 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
LOC126860802, ZMYND11
(T346fs +15 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
ATP2B1
(E800* +7 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, autosomal dominant 30
GLikely pathogenic
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