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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DOCK6
(R2078Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DOCK6
(I1817T +1 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 2
GUncertain significance
DOCK6
(G1793S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DOCK6, DOCK6-AS1
(S1406A +1 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 2
+1 more
GUncertain significance
DOCK6
(V836I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DOCK6
(Q663*)
Single nucleotide variant
(nonsense)
Adams-Oliver syndrome 2
GLikely pathogenic
DOCK6
(T94I)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 2
GUncertain significance
DOCK6
(H34D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
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