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Items: 19

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRA1
(D9E)
Single nucleotide variant
(missense variant)
GABRA1-related condition
+6 more
GBenign/Likely benign
GABRA1
Deletion
(intron variant)
not provided
GUncertain significance
GABRA1
(P29S)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 13
+4 more
GConflicting classifications of pathogenicity
GABRA1
Single nucleotide variant
(synonymous variant)
Epilepsy, idiopathic generalized, susceptibility to, 13
+6 more
GBenign
GABRA1
(R112Q)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 13
+5 more
GConflicting classifications of pathogenicity
GABRA1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
GABRA1
Single nucleotide variant
(synonymous variant)
GABRA1-related condition
+6 more
GConflicting classifications of pathogenicity
GABRA1
Single nucleotide variant
(synonymous variant)
Epilepsy, childhood absence 4
+3 more
GConflicting classifications of pathogenicity
GABRA1
(R214S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GABRA1
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
GABRA1
(V284A)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
GABRA1
Duplication
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 13
+4 more
GBenign/Likely benign
GABRA1
Deletion
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 13
+4 more
GBenign/Likely benign
GABRA1
Single nucleotide variant
(intron variant)
Idiopathic generalized epilepsy
+5 more
GBenign
GABRA1
Single nucleotide variant
(synonymous variant)
GABRA1-related condition
+6 more
GConflicting classifications of pathogenicity
GABRA1
(P409S)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 13
+3 more
GConflicting classifications of pathogenicity
GABRA1
(K410R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
GABRA1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
GABRA1
Single nucleotide variant
(3 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
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