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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTAN1
(R652C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SPTAN1
(A1276T +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SPTAN1
(P2379L +8 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
+1 more
GConflicting classifications of pathogenicity
SPTAN1
(S2367A +8 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
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