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Items: 22

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRA6
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GBenign
GABRA6
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GBenign
GABRA6, GABRA6-AS1
(Q85H)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GUncertain significance
GABRA6, GABRA6-AS1
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GLikely benign
GABRA6, GABRA6-AS1
(S124C)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GUncertain significance
GABRA6, GABRA6-AS1
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GLikely benign
GABRA6
(T187M)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GBenign
GABRA6
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GBenign
GABRA6
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GBenign
GABRA6
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GLikely benign
GABRA6
(Q237R)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
+1 more
GLikely benign
GABRA6
(V269I)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GBenign
GABRA6
(M283V)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GUncertain significance
GABRA6
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GBenign
GABRA6
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GBenign
GABRA6
(K351N)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GLikely benign
GABRA6
(I381T)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GLikely benign
GABRA6
(E386K)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GLikely benign
GABRA6
(P404S)
Single nucleotide variant
(missense variant)
Childhood absence epilepsy
GBenign
GABRA6
Single nucleotide variant
(synonymous variant)
Childhood absence epilepsy
GBenign
GABRA6
Single nucleotide variant
(3 prime UTR variant)
Childhood absence epilepsy
GBenign
SCN1B
(E29K)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+3 more
GUncertain significance
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