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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK6
(R1861H +1 more)
Single nucleotide variant
(missense variant)
DOCK6-related condition
+1 more
GConflicting classifications of pathogenicity
DOCK6, DOCK6-AS1
Single nucleotide variant
(intron variant)
DOCK6-related condition
+2 more
GBenign/Likely benign
DOCK6, DOCK6-AS1
(V1621A +1 more)
Single nucleotide variant
(missense variant)
DOCK6-related condition
+1 more
GConflicting classifications of pathogenicity
DOCK6, DOCK6-AS1
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
DOCK6, DOCK6-AS1
(V1400fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
DOCK6, DOCK6-AS1
(Q1188* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
DOCK6
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
DOCK6
(R865H)
Single nucleotide variant
(missense variant)
DOCK6-related condition
+1 more
GConflicting classifications of pathogenicity
DOCK6
(P646L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DOCK6
(Y235*)
Single nucleotide variant
(nonsense)
Adams-Oliver syndrome 2
+1 more
GPathogenic/Likely pathogenic
DOCK6
(P229L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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