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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRA2
(T239I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GABRA2
(T337A +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
GABRA2
(N318S +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GUncertain significance
GABRA2
(T233A +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GConflicting classifications of pathogenicity
GABRA2
(A277V +1 more)
Single nucleotide variant
(missense variant)
Alcohol dependence
+1 more
GPathogenic/Likely pathogenic
GABRA2
(F230fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 78
GPathogenic
GABRA2
(M10T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
GABRA2
(I200T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
GABRA2
(V26L)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 78
GUncertain significance
GABRA2
(T237I +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GLikely pathogenic
GABRA2
(R147fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 78
+1 more
GUncertain significance
GABRA2
(F325L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GPathogenic
GABRA2
(M263T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GPathogenic
GABRA2
(L291V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GPathogenic
GABRA2
(T292K +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
GABRA2
(N335H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 78
GUncertain significance
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