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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK8, DOCK8-AS1
(M1T)
Single nucleotide variant
(non-coding transcript variant +2 more)
Autosomal recessive hyper-IgE syndrome
+2 more
GUncertain significance
DOCK8
(P91L +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
DOCK8
(H541Q +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
+2 more
GUncertain significance
DOCK8
(R1011C +2 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
DOCK8
(E1104D +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DOCK8
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
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