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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P2RY12, MED12L
(S955P +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder
GUncertain significance
AADAC, SLC33A1
+63 more
Copy number gain
Brachycephaly
+2 more
GPathogenic