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Links from Gene

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRD
(F241L)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 10
GUncertain significance
GABRD
(T292M)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 10
GUncertain significance
GABRD
(R157Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GABRD
(F269del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
GABRD
(T124A)
Single nucleotide variant
(missense variant)
Autism spectrum disorder
GLikely benign
GABRD
(L239M)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 10
GUncertain significance
GABRD
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 10
GUncertain significance
GABRD
(M452T)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 10
GUncertain significance
GABRD
(S113G)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 10
GUncertain significance
GABRD
(R56Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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