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Links from MedGen

Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRA5
(A184V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 79
GUncertain significance
GABRA5
(K105E)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 79
GUncertain significance
GABRA5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 79
GUncertain significance
GABRA5
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 79
GUncertain significance
GABRA5
(S25C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 79
GUncertain significance
GABRA5
(T301M)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 79
+1 more
GPathogenic
GABRA5
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 79
GBenign
GABRA5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 79
GBenign
GABRA5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 79
+1 more
GBenign
GABRA5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
GABRA5
(P389L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 79
+1 more
GUncertain significance
GABRA5
(S238N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GABRA5
(T301R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 79
+1 more
GPathogenic/Likely pathogenic
GABRA5
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 79
+1 more
GBenign/Likely benign
GABRA5
(S413F)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 79
GPathogenic
GABRA5
(V294F)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
GABRA5
(V294L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 79
GPathogenic
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