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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC32A1
(V263M)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 12
+2 more
GConflicting classifications of pathogenicity
SLC32A1
(G461D)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus
+1 more
GPathogenic/Likely pathogenic
SLC32A1
(T464R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SLC32A1
(M330T)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus
+1 more
GPathogenic/Likely pathogenic
SLC32A1
(L468P)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus
+1 more
GPathogenic/Likely pathogenic
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