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Items: 15

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
(R127H +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
+4 more
GConflicting classifications of pathogenicity
DOCK8
(D221E +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DOCK8
(P296R +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
DOCK8
(R398Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DOCK8
(S339N +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive hyper-IgE syndrome
GUncertain significance
DOCK8
(V462M +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
DOCK8
(A569V +1 more)
Single nucleotide variant
(missense variant)
Intellectual disability
GLikely benign
DOCK8
(V759M +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
+1 more
GUncertain significance
DOCK8
(T843A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
DOCK8
(E917K +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
+1 more
GUncertain significance
DOCK8
(H1074N +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DOCK8
(L1330V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DOCK8
(A1347G +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive hyper-IgE syndrome
GUncertain significance
DOCK8
(Q1410E +2 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
GUncertain significance
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