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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK2
(A454T)
Single nucleotide variant
(missense variant +1 more)
DOCK2 deficiency
GConflicting classifications of pathogenicity
DOCK2
Single nucleotide variant
(intron variant)
DOCK2 deficiency
GConflicting classifications of pathogenicity
DOCK2
(V646M)
Single nucleotide variant
(missense variant +1 more)
DOCK2 deficiency
GUncertain significance
DOCK2
(R928W)
Single nucleotide variant
(missense variant +1 more)
DOCK2 deficiency
GUncertain significance
DOCK2, INSYN2B
(P281S)
Single nucleotide variant
(missense variant +1 more)
DOCK2 deficiency
GUncertain significance
DOCK2
(I980T)
Single nucleotide variant
(missense variant +1 more)
DOCK2 deficiency
GConflicting classifications of pathogenicity
DOCK2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DOCK2
(M1388K)
Single nucleotide variant
(missense variant +1 more)
DOCK2 deficiency
GUncertain significance
DOCK2
(N1506S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
DOCK2
Single nucleotide variant
(splice acceptor variant)
DOCK2 deficiency
GLikely pathogenic
DOCK2
Single nucleotide variant
(synonymous variant +1 more)
DOCK2 deficiency
GUncertain significance
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