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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC1A2
(S525Y +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(I335V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(H533R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GLikely pathogenic
SLC1A2
(A423D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(F240fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 41
GLikely pathogenic
SLC1A2
(I267S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GLikely pathogenic
SLC1A2
(M77K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(V376fs +1 more)
Microsatellite
(frameshift variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(A70D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(V538I +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(Q143H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(R78K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(G244V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(R563H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
+1 more
GUncertain significance
SLC1A2
(S200N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC1A2
(M259I +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
+1 more
GUncertain significance
SLC1A2
(G282V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GLikely pathogenic
SLC1A2
(I221T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GLikely pathogenic
SLC1A2
(G351A +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(A284T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(R22Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
+1 more
GBenign/Likely benign
SLC1A2
(R56C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A2
(R106H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
+1 more
GConflicting classifications of pathogenicity
SLC1A2
(A400T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
+1 more
GUncertain significance
SLC1A2
(I102V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(I121T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 41
GBenign
SLC1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 41
GBenign
SLC1A2
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 41
GBenign
SLC1A2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SLC1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 41
+1 more
GBenign
SLC1A2
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 41
+1 more
GBenign
SLC1A2
(E194K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(F176L +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(L38V +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(K148E +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
+1 more
GUncertain significance
SLC1A2
(A340V +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SLC1A2
(E194D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GUncertain significance
SLC1A2
(P289R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
+1 more
GPathogenic/Likely pathogenic
SLC1A2
(G82R +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
SLC1A2
(L85P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SLC1A2
(G82R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 41
GPathogenic
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