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Links from MedGen

Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PAK1
(V107M +3 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
NTNG2
(G317S)
Single nucleotide variant
(missense variant)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
(T84R)
Single nucleotide variant
(missense variant +3 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(R273C +6 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(I378V +6 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(I214S +5 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(L372Q +7 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(G27S)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
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
(R105C +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(Y376H +6 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(Y142H +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(S122P +3 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
(L429F +11 more)
Single nucleotide variant
(missense variant +2 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
GBenign
PAK1
(S110T +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(P121S +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
+1 more
GPathogenic/Likely pathogenic
PAK1
(S133P +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
Single nucleotide variant
(intron variant)
PAK1-related disorder
+2 more
GBenign
PAK1
(V127M +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GConflicting classifications of pathogenicity
PAK1
(E129fs +2 more)
Deletion
(frameshift variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
(Y131N +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GPathogenic
PAK1
(M143T +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely pathogenic
PAK1
(L372R +7 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(R174W +4 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual disability
+1 more
GUncertain significance
PAK1
(R397G +6 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GUncertain significance
PAK1
(I393T +6 more)
Single nucleotide variant
(missense variant +2 more)
See cases
+2 more
GPathogenic/Likely pathogenic
PAK1
(Y429C +7 more)
Single nucleotide variant
(missense variant +1 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
PAK1
(Y131C +2 more)
Single nucleotide variant
(missense variant +2 more)
Intellectual developmental disorder with macrocephaly, seizures, and speech delay
GLikely pathogenic
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