U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SOX11
(S366fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(S349G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(S338*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(S393*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(G383fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(N54D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(Y118C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(R51G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(K50Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(K50N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(I49N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(K274*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(A142G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(P120H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(Y113H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(G47S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(A176E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(H109P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(R106P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(F98L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(W87R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(G84S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(H75D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(R64L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(W59*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(R64S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(M53V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(M53R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(M53I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(P52L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GPathogenic/Likely pathogenic
SOX11
(R51L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(C29*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(A385S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(A134S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(C219*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(R64P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GLikely pathogenic
SOX11
(E242Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(G84R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(I49S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(M53I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(R64C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(M57T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GPathogenic/Likely pathogenic
SOX11
(F56C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(A385T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(R51W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOX11
(E234G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GUncertain significance
SOX11
(K218fs)
Insertion
(frameshift variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(S80F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(E296*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(H48D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GUncertain significance
SOX11
Microsatellite
(inframe_insertion)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(P243A)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(F56L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
SOX11
(R51Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GLikely pathogenic
SOX11
(P263T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(G383C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(E234*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(A180T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(P120L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(N76D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOX11
(A102V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(Y118S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(S370F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(S406fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(K108E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(F98fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(S264*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
+1 more
GPathogenic
SOX11
(R100P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SOX11
(W429*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(S60P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(Y116C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
Format
Items per page
Sort by
Choose Destination