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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK8
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DOCK8
(E702Q +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
DOCK8
(D1199N +2 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
DOCK8
Single nucleotide variant
(intron variant)
Autosomal recessive hyper-IgE syndrome
+1 more
GConflicting classifications of pathogenicity
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