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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CR2
(C719* +1 more)
Single nucleotide variant
(nonsense)
Immunodeficiency, common variable, 2
GLikely pathogenic
CAMK1G, CD34
+75 more
Copy number loss
Global developmental delay
+2 more
GPathogenic