U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 105

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTNAP2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
(G10E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP2
(W16C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(L22P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CNTNAP2
(A25T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
(Q33K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP2
(V46M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
CNTNAP2-related condition
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
CNTNAP2-related condition
+3 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
(R114Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
+1 more
GConflicting classifications of pathogenicity
CNTNAP2
(W134G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CNTNAP2
(R160H)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
CNTNAP2
(I172T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
Duplication
(intron variant)
not specified
+1 more
GBenign/Likely benign
CNTNAP2
Insertion
(intron variant)
Pitt-Hopkins-like syndrome
+4 more
GBenign
CNTNAP2
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
(T218M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CNTNAP2
(L226M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
CNTNAP2-related condition
+5 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(intron variant)
Autism, susceptibility to, 15
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
(R283C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(G285A)
Single nucleotide variant
(missense variant)
Autism, susceptibility to, 15
+4 more
GBenign/Likely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
(S322F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(N346S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(A351T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(N360S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
CNTNAP2-related condition
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
CNTNAP2-related condition
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
(S382N)
Single nucleotide variant
(missense variant)
CNTNAP2-related condition
+5 more
GConflicting classifications of pathogenicity
CNTNAP2
(R389W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CNTNAP2
(N407S)
Single nucleotide variant
(missense variant)
CNTNAP2-related condition
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins-like syndrome
+5 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CNTNAP2
(L502V)
Single nucleotide variant
(missense variant)
Pitt-Hopkins-like syndrome
+3 more
GUncertain significance
CNTNAP2
(S509N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
+3 more
GConflicting classifications of pathogenicity
CNTNAP2
(E535K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins-like syndrome
+4 more
GBenign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins-like syndrome
+4 more
GBenign/Likely benign
CNTNAP2
(S575C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CNTNAP2
(C590Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP2
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
CNTNAP2
(P616S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP2
(G620R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNTNAP2
(I675V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(V708A)
Single nucleotide variant
(missense variant)
CNTNAP2-related condition
+5 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
+3 more
GConflicting classifications of pathogenicity
CNTNAP2
(Y716C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
(W718*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CNTNAP2
(C743R)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
+1 more
GUncertain significance
CNTNAP2
(A747T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CNTNAP2
(D748Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CNTNAP2
(R777P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP2
(V786L)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
CNTNAP2
(R790H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNTNAP2
(S820R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins-like syndrome
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
(G865R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP2
(V870A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CNTNAP2
(R906C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
LOC126860216, CNTNAP2
(L947F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126860216, CNTNAP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
+1 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CNTNAP2
(L1065I)
Single nucleotide variant
(missense variant)
CNTNAP2-related condition
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(intron variant)
Pitt-Hopkins-like syndrome
+4 more
GBenign
CNTNAP2
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
CNTNAP2
(V1102A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GLikely benign
CNTNAP2
(P1112L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP2
(R1119C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
CNTNAP2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CNTNAP2
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
CNTNAP2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
(T1144S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CNTNAP2
Duplication
(intron variant)
not provided
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
CNTNAP2-related condition
+5 more
GConflicting classifications of pathogenicity
CNTNAP2
(A1199S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
CNTNAP2-related condition
+4 more
GConflicting classifications of pathogenicity
CNTNAP2
(A1227V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CNTNAP2
Microsatellite
(intron variant)
not specified
+1 more
GBenign/Likely benign
CNTNAP2
Insertion
(intron variant)
not provided
GUncertain significance
CNTNAP2
Single nucleotide variant
(intron variant)
Autism, susceptibility to, 15
+2 more
GConflicting classifications of pathogenicity
CNTNAP2
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins-like syndrome
+4 more
GBenign
CNTNAP2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination