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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MBD5
(A455T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
MBD5, ORC4
Copy number loss
Intellectual disability, autosomal dominant 1
GPathogenic
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