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Links from Gene

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA2
(A162fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
GUncertain significance
CHRNA2
Duplication
Autosomal dominant nocturnal frontal lobe epilepsy
GUncertain significance
CHRNA2
(C5*)
Single nucleotide variant
(nonsense +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy 4
GUncertain significance
CHRNA2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CHRNA2
(V105L +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy 4
GUncertain significance
CHRNA2
(E171fs +3 more)
Deletion
(frameshift variant)
Autosomal dominant nocturnal frontal lobe epilepsy 4
GUncertain significance
CHRNA2
(F190L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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