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Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAL
Deletion
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(3 prime UTR variant)
Familial temporal lobe epilepsy 8
GBenign
GAL
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 8
GBenign
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(M72I)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(R88L)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(R67P)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(S5G)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(R3*)
Single nucleotide variant
(nonsense)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(A113T)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(P68S)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(K31E)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(A114T)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(S26L)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Deletion
(splice donor variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(R122Q)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(S123F)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
+1 more
GUncertain significance
GAL
(L13F)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(D106N)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(R64Q)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(A104V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(A6T)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(A10T)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(P112R)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Duplication
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(V48I)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(D56N)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Deletion
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(splice acceptor variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(A15T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAL
(L60F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(N85D)
Single nucleotide variant
(missense variant)
GAL-related disorder
+1 more
GLikely benign
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(A47V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(R67W)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
+1 more
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(S19P)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(A16V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
+1 more
GBenign/Likely benign
GAL
(R122W)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GBenign
GAL
(E121K)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
+1 more
GBenign
GAL
(R88H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAL
(E69K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(A39E)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GPathogenic
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