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Links from MedGen

Items: 1 to 100 of 1517

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CNTNAP2
(I672V)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
CNTNAP2-related disorder
+1 more
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Duplication
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Insertion
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Microsatellite
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(D861H)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(K603*)
Single nucleotide variant
(nonsense)
Cortical dysplasia-focal epilepsy syndrome
GPathogenic
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(splice acceptor variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely pathogenic
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(L43R)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(splice acceptor variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely pathogenic
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(E781G)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2, LOC126860216
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(T854A)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(E733*)
Single nucleotide variant
(nonsense)
Cortical dysplasia-focal epilepsy syndrome
GPathogenic
CNTNAP2
(Q1086*)
Single nucleotide variant
(nonsense)
Cortical dysplasia-focal epilepsy syndrome
GPathogenic
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(A1026V)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(P766T)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(H1232fs)
Duplication
(frameshift variant)
Cortical dysplasia-focal epilepsy syndrome
GPathogenic
CNTNAP2
(E370*)
Single nucleotide variant
(nonsense)
Cortical dysplasia-focal epilepsy syndrome
GPathogenic
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(F1184L)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
(W134*)
Single nucleotide variant
(nonsense)
Cortical dysplasia-focal epilepsy syndrome
GPathogenic
CNTNAP2, LOC126860216
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(splice donor variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely pathogenic
CNTNAP2, LOC126860216
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Insertion
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Deletion
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
(V1157L)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
(N1147S)
Single nucleotide variant
(missense variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(synonymous variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GLikely benign
CNTNAP2
Single nucleotide variant
(intron variant)
Cortical dysplasia-focal epilepsy syndrome
GUncertain significance
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