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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZBTB18
(W184* +1 more)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 22
GPathogenic
ZBTB18
(R455L +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 22
+1 more
GLikely pathogenic