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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC6A1, SLC6A1-AS1
(M121fs +1 more)
Deletion
(frameshift variant +2 more)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1, SLC6A1-AS1
(E16*)
Single nucleotide variant
(nonsense +1 more)
Myoclonic-astatic epilepsy
GPathogenic
SCN2A
(A1226fs)
Microsatellite
(frameshift variant)
SCN2A-related generalized epilepsy with febrile seizures plus
+8 more
Gnot provided
SLC6A1
(G184R +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
Gnot provided
SCN2A
(P70A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC6A1
(P127S +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(N176S +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(R140M +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
ATP2B2, BRK1
+10 more
Deletion
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1, SLC6A1-AS1
(T157M +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(V310I +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
Single nucleotide variant
(intron variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1, SLC6A1-AS1
(R69S)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(S416N +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(G357V +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1, SLC6A1-AS1
(G114fs)
Indel
(frameshift variant +2 more)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1, SLC6A1-AS1
(I84F)
Single nucleotide variant
(missense variant +2 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(N240H +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(V358fs +2 more)
Deletion
(frameshift variant)
Myoclonic-astatic epilepsy
+1 more
GPathogenic
SLC6A1
(G121V +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
Single nucleotide variant
(splice donor variant)
Myoclonic-astatic epilepsy
Gnot provided
SLC6A1
(I133fs +2 more)
Deletion
(frameshift variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1, SLC6A1-AS1
(Y86H)
Single nucleotide variant
(missense variant +2 more)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1, SLC6A1-AS1
(L73P)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(M309V +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(Y118* +2 more)
Single nucleotide variant
(nonsense)
Myoclonic-astatic epilepsy
GPathogenic
SLC2A1
(T310fs)
Deletion
(frameshift variant)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1
(H198R +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-atonic epilepsy
GConflicting classifications of pathogenicity
SLC6A1
(L101P +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(I160F +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(S102fs +2 more)
Deletion
(frameshift variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(F208del +2 more)
Microsatellite
(inframe_deletion)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(L149P +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(L258H +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
Single nucleotide variant
(intron variant)
Myoclonic-atonic epilepsy
+1 more
GBenign/Likely benign
SLC6A1, SLC6A1-AS1
Single nucleotide variant
(intron variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1, SLC6A1-AS1
(L90V)
Single nucleotide variant
(missense variant +2 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
Single nucleotide variant
(intron variant)
SLC6A1-related disorder
+1 more
GConflicting classifications of pathogenicity
SLC6A1, SLC6A1-AS1
(T157A +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(W107* +2 more)
Single nucleotide variant
(nonsense)
Myoclonic-atonic epilepsy
+1 more
GPathogenic/Likely pathogenic
SLC6A1
Single nucleotide variant
(synonymous variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1
Duplication
Myoclonic-astatic epilepsy
GUncertain significance
CHD2
Single nucleotide variant
(splice acceptor variant)
Myoclonic-astatic epilepsy
GPathogenic
SEMA6B
(T713M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
SLC6A1
(R17C +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-atonic epilepsy
GLikely benign
SLC6A1, SLC6A1-AS1
(K36fs)
Duplication
(frameshift variant +1 more)
Myoclonic-astatic epilepsy
Gnot provided
SLC6A1-AS1, SLC6A1
(Y139C +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
+2 more
GConflicting classifications of pathogenicity
SLC6A1
(A179E +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
Single nucleotide variant
(splice donor variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(R17S +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1, SLC6A1-AS1
(A61V)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(C315R +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1, SLC6A1-AS1
(Y60S)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1, SLC6A1-AS1
(L30*)
Single nucleotide variant
(nonsense +1 more)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1, SLC6A1-AS1
(G78C)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
Single nucleotide variant
(synonymous variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1
Single nucleotide variant
(intron variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1
(V11fs +2 more)
Deletion
(frameshift variant)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1
(N260* +2 more)
Duplication
(nonsense)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1
(A389V +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(S413R +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1, SLC6A1-AS1
(D25E)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(A111V +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(W322* +2 more)
Single nucleotide variant
(nonsense)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1
(G208R +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(A127T +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-atonic epilepsy
+3 more
GConflicting classifications of pathogenicity
SLC6A1, SLC6A1-AS1
(W135* +1 more)
Single nucleotide variant
(nonsense +1 more)
Myoclonic-atonic epilepsy
GPathogenic
SLC6A1, SLC6A1-AS1
(A9fs)
Deletion
(frameshift variant +1 more)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1
(E163K +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-atonic epilepsy
GUncertain significance
SLC6A1
Duplication
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(C173Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(V333L +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(K158Q +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
Single nucleotide variant
(splice acceptor variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1, SLC6A1-AS1
(R50L)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(F116del +2 more)
Microsatellite
(inframe_deletion)
Intellectual disability
+2 more
GPathogenic/Likely pathogenic
SLC6A1, SLC6A1-AS1
(G11R)
Single nucleotide variant
(missense variant +1 more)
Myoclonic-astatic epilepsy
+2 more
GConflicting classifications of pathogenicity
SLC6A1
Single nucleotide variant
(synonymous variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1
Single nucleotide variant
(synonymous variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1, SLC6A1-AS1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1-AS1, SLC6A1
Single nucleotide variant
(synonymous variant +1 more)
Myoclonic-astatic epilepsy
+1 more
GLikely benign
SLC6A1
Single nucleotide variant
(synonymous variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1
Single nucleotide variant
(intron variant)
Myoclonic-astatic epilepsy
+1 more
GLikely benign
SLC6A1
Single nucleotide variant
(synonymous variant)
Myoclonic-astatic epilepsy
+1 more
GLikely benign
SLC6A1
Single nucleotide variant
(synonymous variant)
Myoclonic-astatic epilepsy
GLikely benign
SLC6A1
(V451fs +2 more)
Deletion
(frameshift variant)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1
(L288fs +2 more)
Deletion
(frameshift variant)
not provided
GPathogenic
SLC6A1
(S117L +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(I268fs +2 more)
Deletion
(frameshift variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
Single nucleotide variant
(splice acceptor variant)
Myoclonic-astatic epilepsy
GLikely pathogenic
SLC6A1
(S175fs +1 more)
Insertion
(frameshift variant +1 more)
Myoclonic-astatic epilepsy
GPathogenic
SLC6A1
Single nucleotide variant
(intron variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1, SLC6A1-AS1
(G111V)
Single nucleotide variant
(missense variant +2 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1-AS1, SLC6A1
(S103P)
Single nucleotide variant
(missense variant +2 more)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
Single nucleotide variant
(intron variant)
Myoclonic-atonic epilepsy
+2 more
GConflicting classifications of pathogenicity
SLC6A1, SLC6A1-AS1
(K33E)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
SLC6A1
(A553D +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1, SLC6A1-AS1
(G111R)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
SLC6A1
(W285R +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
GUncertain significance
SLC6A1
(S459R +2 more)
Single nucleotide variant
(missense variant)
Myoclonic-astatic epilepsy
+1 more
GPathogenic
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