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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KAT5
Single nucleotide variant
(synonymous variant +1 more)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
GUncertain significance
KAT5
(Q225H +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities
+1 more
GUncertain significance