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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SMCR8
(R802C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder
GUncertain significance
AKAP10, ALDH3A1
+48 more
Copy number gain
Potocki-Lupski syndrome
GPathogenic