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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT6B
(Q1011fs +7 more)
Deletion
(frameshift variant)
KAT6B-realted disoder
+1 more
GPathogenic
KAT6B
(N1102fs +7 more)
Deletion
(frameshift variant)
Blepharophimosis - intellectual disability syndrome, SBBYS type
GPathogenic