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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA2
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA2
(R394H +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GUncertain significance
CHRNA2
(R247W +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 4
+1 more
GUncertain significance
CHRNA2
(T168M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
CHRNA2
(G128D +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CHRNA2
(W17C)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 4
+1 more
GConflicting classifications of pathogenicity
CHRNA2
(C5*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 4
GUncertain significance
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