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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT6B
(R622*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant KAT6B-related disorders
+2 more
GConflicting classifications of pathogenicity
KAT6B
(Q1033* +7 more)
Single nucleotide variant
(nonsense)
Autosomal dominant KAT6B-related disorders
GLikely pathogenic