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Items: 24

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
(A22V)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
+2 more
GBenign
LOC126860552, DOCK8
(P97T +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
DOCK8
(R127H +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
+4 more
GConflicting classifications of pathogenicity
DOCK8
Deletion
(intron variant)
Autosomal recessive hyper-IgE syndrome
+3 more
GBenign/Likely benign
DOCK8
(S165L +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to DOCK8 deficiency
+2 more
GConflicting classifications of pathogenicity
DOCK8
(V194I +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive hyper-IgE syndrome
+1 more
GLikely benign
DOCK8
(E237K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
DOCK8
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
DOCK8
Single nucleotide variant
(synonymous variant)
Autosomal recessive hyper-IgE syndrome
+2 more
GBenign
DOCK8
Single nucleotide variant
(synonymous variant)
Autosomal recessive hyper-IgE syndrome
+2 more
GBenign
DOCK8
Single nucleotide variant
(synonymous variant)
Autosomal recessive hyper-IgE syndrome
+2 more
GBenign
DOCK8
(S1077N +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
DOCK8
Deletion
(intron variant)
Hyper-IgE syndrome
+2 more
GBenign/Likely benign
DOCK8
Single nucleotide variant
(intron variant)
Autosomal recessive hyper-IgE syndrome
+1 more
GBenign/Likely benign
DOCK8
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
DOCK8
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
DOCK8
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
DOCK8
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
DOCK8
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
DOCK8
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
DOCK8
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
DOCK8
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to DOCK8 deficiency
+2 more
GConflicting classifications of pathogenicity
DOCK8
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
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