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Links from MedGen

Items: 1 to 100 of 421

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GABRG2
Deletion
Epilepsy, childhood absence 2
+1 more
GPathogenic
GABRG2
(G391S +13 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(V148I +8 more)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(T29I +3 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(M141V +5 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
(A283V +13 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(Q236* +6 more)
Single nucleotide variant
(nonsense)
Febrile seizures, familial, 8
+1 more
GPathogenic
GABRG2
(P238A +14 more)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Duplication
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Deletion
(splice donor variant)
Febrile seizures, familial, 8
+1 more
GPathogenic
GABRG2
(L30P +1 more)
Single nucleotide variant
(missense variant +2 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Microsatellite
(nonsense +2 more)
Febrile seizures, familial, 8
+1 more
GPathogenic
GABRG2
(S284I +13 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+2 more
GUncertain significance
GABRG2
Single nucleotide variant
(synonymous variant +1 more)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(S100I +4 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(Y191N +8 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(V214I +6 more)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(W4G +1 more)
Single nucleotide variant
(missense variant +2 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(R120S +6 more)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant +1 more)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(W118* +4 more)
Single nucleotide variant
(nonsense +1 more)
Febrile seizures, familial, 8
+1 more
GPathogenic
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant +1 more)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(L263fs +8 more)
Deletion
(frameshift variant)
Febrile seizures, familial, 8
+1 more
GPathogenic
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(C161* +5 more)
Single nucleotide variant
(nonsense)
Febrile seizures, familial, 8
+1 more
GPathogenic
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(C280R +13 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant +1 more)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(splice acceptor variant +1 more)
Febrile seizures, familial, 8
+1 more
GLikely pathogenic
GABRG2
(N107fs +4 more)
Deletion
(frameshift variant +1 more)
Febrile seizures, familial, 8
+1 more
GPathogenic
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
(L52F +3 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+2 more
GUncertain significance
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(R96H +4 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
(K352del +8 more)
Microsatellite
(inframe_deletion +1 more)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
(R264Q +6 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(synonymous variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
(N50K +3 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
(R82W +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GLikely pathogenic
GABRG2
(A254T +13 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GABRG2
(T366A +13 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GABRG2
(S2R)
Single nucleotide variant
(missense variant +2 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(M1T +4 more)
Single nucleotide variant
(missense variant +2 more)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
(V152L +8 more)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(A209D +8 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(C284F +13 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GABRG2
(K31I +3 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(R223G +8 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+2 more
GUncertain significance
GABRG2
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant +2 more)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Febrile seizures, familial, 8
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(intron variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
Single nucleotide variant
(synonymous variant)
Epilepsy, childhood absence 2
+1 more
GLikely benign
GABRG2
(T117M +4 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, childhood absence 2
+2 more
GUncertain significance
GABRG2
(D146H +5 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
(G14D +1 more)
Single nucleotide variant
(missense variant +2 more)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(splice donor variant)
Febrile seizures, familial, 8
+1 more
GLikely pathogenic
GABRG2
(T174S +8 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, childhood absence 2
+1 more
GPathogenic
GABRG2
Single nucleotide variant
(intron variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(L29F +1 more)
Single nucleotide variant
(missense variant +2 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
Single nucleotide variant
(splice acceptor variant)
Epilepsy, childhood absence 2
+1 more
GLikely pathogenic
GABRG2
(T309I +8 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(E34D +3 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(A205T +8 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
(K231E +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
GABRG2
Duplication
Epilepsy, childhood absence 2
+1 more
GLikely pathogenic
GABRG2
Duplication
(inframe_insertion)
Epilepsy, childhood absence 2
+1 more
GLikely pathogenic
GABRG2
(C187F +5 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
(I267M +8 more)
Single nucleotide variant
(missense variant)
Febrile seizures, familial, 8
+1 more
GUncertain significance
GABRG2
(E88A +6 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
Deletion
(splice donor variant)
Epilepsy, childhood absence 2
+1 more
GLikely pathogenic
GABRG2
(W321R +13 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, childhood absence 2
+1 more
GUncertain significance
GABRG2
(G348D +8 more)
Single nucleotide variant
(missense variant +1 more)
Febrile seizures, familial, 8
+1 more
GUncertain significance
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