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Links from MedGen

Items: 44

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAK3
Single nucleotide variant
(splice acceptor variant)
Intellectual disability, X-linked 30
GLikely pathogenic
PAK3
(H78R)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
(F406L +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
(P164S +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
(E9K)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
(L395fs +3 more)
Deletion
(frameshift variant +1 more)
Intellectual disability, X-linked 30
GLikely pathogenic
PAK3
(G335D +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PAK3
Single nucleotide variant
(intron variant)
Intellectual disability, X-linked 30
+1 more
GBenign
PAK3
(E356* +3 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, X-linked 30
+1 more
GPathogenic/Likely pathogenic
PAK3
(Q135* +3 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual disability, X-linked 30
GLikely pathogenic
PAK3
(I288V +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
PAK3
Single nucleotide variant
(intron variant +2 more)
Intellectual disability, X-linked 30
GBenign
PAK3
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability, X-linked 30
GUncertain significance
LOC130068561, PAK3
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability, X-linked 30
GUncertain significance
LOC130068561, PAK3
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC130068561, PAK3
Single nucleotide variant
(5 prime UTR variant +2 more)
Intellectual disability, X-linked 30
GBenign
PAK3
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked 30
GBenign
PAK3
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
PAK3
(D330N +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
(C371Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GLikely pathogenic
PAK3
(W428R +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GLikely pathogenic
PAK3
(E182del +3 more)
Microsatellite
(inframe_deletion +1 more)
Intellectual disability, X-linked 30
+1 more
GUncertain significance
PAK3
(R100* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PAK3
(G4S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
PAK3
(S527G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PAK3
Single nucleotide variant
(3 prime UTR variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
PAK3
(P222Q +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GBenign/Likely benign
PAK3
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, X-linked 30
GUncertain significance
PAK3
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
PAK3
Single nucleotide variant
(5 prime UTR variant +1 more)
Intellectual disability, X-linked 30
GBenign
PAK3
Single nucleotide variant
(synonymous variant +1 more)
Intellectual disability, X-linked 30
+1 more
GUncertain significance
PAK3
Single nucleotide variant
(synonymous variant +1 more)
History of neurodevelopmental disorder
+3 more
GBenign/Likely benign
PAK3
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign
PAK3
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PAK3
(W446S +3 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GPathogenic
PAK3
(A365E +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
PAK3
(R67C)
Single nucleotide variant
(missense variant +1 more)
Intellectual disability, X-linked 30
GPathogenic
PAK3
(R419* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
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