U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 467

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRB3
(L9P)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
GABRG3, GABRA5
+3 more
Deletion
Epilepsy, childhood absence, susceptibility to, 1
+1 more
GPathogenic
GABRB3
Duplication
Epilepsy, childhood absence, susceptibility to, 1
+1 more
GUncertain significance
GABRB3
Deletion
Epilepsy, childhood absence, susceptibility to, 1
+1 more
GUncertain significance
GABRB3
Deletion
Epilepsy, childhood absence, susceptibility to, 1
+1 more
GPathogenic
GABRB3
(R209Q +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence, susceptibility to, 1
+2 more
GUncertain significance
GABRB3
(L336F +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence, susceptibility to, 5
+1 more
GBenign
GABRB3
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence, susceptibility to, 5
+1 more
GLikely benign
GABRB3
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence, susceptibility to, 5
+1 more
GLikely benign
GABRB3
(E286A +2 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence, susceptibility to, 1
+1 more
GUncertain significance
GABRB3
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence, susceptibility to, 1
+1 more
GLikely benign
GABRB3
Single nucleotide variant
(synonymous variant)
Epilepsy, childhood absence, susceptibility to, 5
+1 more
GLikely benign
GABRB3
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, childhood absence, susceptibility to, 5
+1 more
GLikely benign
Format
Items per page
Sort by
Choose Destination