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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASH1L
(L709fs)
Duplication
(frameshift variant)
Intellectual disability, autosomal dominant 52
GLikely pathogenic
ASH1L
(E47del)
Microsatellite
(inframe_deletion)
not provided
+1 more
GUncertain significance