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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACY3, AIP
+206 more
Copy number loss
See cases
GLikely pathogenic
ACTE1P, ANO1
+184 more
Copy number loss
See cases
GLikely pathogenic
C11orf24, CPT1A
+96 more
Copy number gain
See cases
GLikely benign
GAL
(R3*)
Single nucleotide variant
(nonsense)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(S5G)
Single nucleotide variant
(missense 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
(L13F)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(A15T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAL
(A16V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
+1 more
GBenign/Likely benign
GAL
(S19P)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
Deletion
(splice donor variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(S26L)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Deletion
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(K31E)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
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
GAL
Single nucleotide variant
(splice acceptor variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(A47V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
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
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(L60F)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAL
(R64Q)
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
(R67P)
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
(E69K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAL
(M72V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
GAL
(M72I)
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
Single nucleotide variant
(intron variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(N85D)
Single nucleotide variant
(missense variant)
GAL-related disorder
+1 more
GLikely benign
GAL
(R88L)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(R88H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
GAL
(L97F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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
(A104V)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GAL
(D106H)
Single nucleotide variant
(missense variant)
Seizure
+1 more
GUncertain significance
GAL
(D106N)
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
(A113T)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
Single nucleotide variant
(synonymous variant)
Familial temporal lobe epilepsy 8
GLikely benign
GAL
(A114T)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GUncertain significance
GAL
(E121K)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
+1 more
GBenign
GAL
(R122W)
Single nucleotide variant
(missense variant)
Familial temporal lobe epilepsy 8
GBenign
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
Single nucleotide variant
(3 prime UTR variant)
Familial temporal lobe epilepsy 8
GBenign
ACTN3, ACY3
+343 more
Copy number gain
not specified
GLikely pathogenic
ACTN3, ACY3
+362 more
Copy number gain
not provided
GPathogenic
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
GAL, LRP5
+1 more
Duplication
not provided
GUncertain significance
GAL, PPP6R3
+1 more
Copy number gain
not provided
GUncertain significance
GRIA4, GRIK4
+956 more
Copy number gain
MISSED ABORTION
GPathogenic
GAL
Deletion
Familial temporal lobe epilepsy 8
GUncertain significance
ACER3, ACP2
+904 more
Deletion
Intellectual disability
GPathogenic
GAL
Duplication
Familial temporal lobe epilepsy 8
GUncertain significance
TESMIN, PPP6R3
+1 more
Copy number gain
not provided
GUncertain significance
ANO1, C11orf24
+24 more
Copy number loss
See cases
GLikely pathogenic
ACP2, CREBZF
+1289 more
Copy number gain
See cases
GPathogenic
GALNT18, MPZL3
+1289 more
Copy number gain
See cases
GPathogenic
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