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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT6A
(R1129*)
Single nucleotide variant
(nonsense)
Inborn genetic diseases
+2 more
GPathogenic
KAT6A
(R1024*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic