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Links from Gene

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAK1
(L159* +3 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GUncertain significance
PAK1
(P104L +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
PAK1
Single nucleotide variant
(splice donor variant +1 more)
not provided
GUncertain significance
PAK1
(V107M +3 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
(L372Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(K225N +5 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
(K422* +2 more)
Single nucleotide variant
(nonsense +1 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
Microsatellite
(intron variant)
Schizophrenia
GUncertain significance
PAK1
(E129fs +2 more)
Deletion
(frameshift variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
(M143T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely pathogenic
PAK1
(R174W +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability
+1 more
GUncertain significance
PAK1
(M143K +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
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