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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK8
(R1004W +2 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
DOCK8
Deletion
Combined immunodeficiency due to DOCK8 deficiency
GLikely pathogenic