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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRAPPC10
(R1140W +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with microcephaly, short stature, and speech delay
GUncertain significance
ABCG1, ADARB1
+70 more
Copy number loss
not provided
GPathogenic