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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
DOCK2
(V532M)
Single nucleotide variant
(missense variant +1 more)
DOCK2 deficiency
+1 more
GConflicting classifications of pathogenicity
ADAM19, ADRA1B
+50 more
Copy number loss
See cases
GPathogenic
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