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Items: 1 to 100 of 338

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129933244, LOC129933245
+653 more
Copy number gain
See cases
GPathogenic
LOC126806103, LOC126806104
+1047 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+498 more
Copy number gain
See cases
GPathogenic
LOC129933186, LOC129933187
+736 more
Copy number gain
See cases
GPathogenic
ABHD1, ACP1
+893 more
Copy number gain
See cases
GPathogenic
ACP1, ADAM17
+413 more
Copy number gain
See cases
GPathogenic
LOC129933017, LOC129933018
+237 more
Copy number gain
See cases
GPathogenic
LOC129933311, LOC129933312
+1631 more
Copy number gain
See cases
GPathogenic
LINC01115, LINC01121
+1400 more
Copy number gain
See cases
GPathogenic
ADAM17, ADI1
+546 more
Copy number gain
See cases
GPathogenic
CMPK2, GRASLND
+50 more
Copy number loss
See cases
GLikely pathogenic
LINC01248, LINC01810
+7 more
Copy number loss
See cases
GPathogenic
SOX11
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
SOX11
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
SOX11
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
SOX11
Deletion
(inframe_deletion)
Inborn genetic diseases
GUncertain significance
SOX11
(A5E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
(E6K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX11
(S12R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX11
(E17Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
(A18G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX11
(E23K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
(E25K)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SOX11
(F26L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
SOX11
(M27T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
(C29*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(V32G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX11
(S37R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
(D38G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
(P39R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX11
(G47S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(H48D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GUncertain significance
SOX11
(I49N)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(I49S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(K50E)
Single nucleotide variant
(missense variant)
SOX11-related disorder
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
(R51G)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(R51W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOX11
(R51L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(R51Q)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GLikely pathogenic
SOX11
(P52R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SOX11
(P52L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GPathogenic/Likely 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
(M53I)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(N54D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX11
(F56C)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(F56L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
SOX11
(M57T)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GPathogenic/Likely pathogenic
SOX11
(W59R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
SOX11
(W59*)
Single nucleotide variant
(nonsense)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(S60P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(R64S)
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
(R64G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SOX11
(R64L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(R64P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
+1 more
GLikely pathogenic
SOX11
(R64H)
Single nucleotide variant
(missense variant)
Craniosynostosis syndrome
GLikely pathogenic
SOX11
(I67V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SOX11
(N76fs)
Insertion
(frameshift variant)
not provided
GUncertain significance
SOX11
(M74L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
(H75D)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
Single nucleotide variant
(synonymous variant)
not specified
GUncertain significance
SOX11
(N76D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX11
(I79L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SOX11
(S80F)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(S80C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SOX11
(G84S)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(G84R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GPathogenic
SOX11
(G84D)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism
GPathogenic
SOX11
(W87R)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(K88E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely pathogenic
SOX11
(F98fs)
Deletion
(frameshift variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(F98L)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
(R100Q)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism
GLikely pathogenic
SOX11
(R100P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
SOX11
(A102V)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SOX11
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SOX11
Microsatellite
(inframe_insertion)
Intellectual disability, autosomal dominant 27
GUncertain significance
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SOX11
(R106P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(K108E)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(K108T)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
SOX11
(H109P)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(M110I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
(Y113H)
Single nucleotide variant
(missense variant)
Intellectual disability, autosomal dominant 27
GLikely pathogenic
SOX11
(Y113C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SOX11
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SOX11
(P114S)
Single nucleotide variant
(missense variant)
Hypogonadotropic hypogonadism
GLikely pathogenic
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