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Items: 30

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CHRNA2
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GBenign/Likely benign
CHRNA2
(D478E +3 more)
Single nucleotide variant
(missense variant)
CHRNA2-related condition
+5 more
GConflicting classifications of pathogenicity
CHRNA2
(D478H +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRNA2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CHRNA2
(E452K +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CHRNA2
(A424T +3 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA2
(E420del +3 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
CHRNA2
(E412K +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CHRNA2
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA2
Single nucleotide variant
(synonymous variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA2
(L313F +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CHRNA2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CHRNA2
Indel
(inframe_indel)
not provided
GUncertain significance
CHRNA2
(A249T +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
CHRNA2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
CHRNA2
(C197R +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GUncertain significance
CHRNA2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CHRNA2
Single nucleotide variant
(intron variant)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GBenign
CHRNA2
(G128D +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+3 more
GConflicting classifications of pathogenicity
CHRNA2
(T125A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign
CHRNA2
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+4 more
GBenign
CHRNA2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
CHRNA2
(P76L)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GConflicting classifications of pathogenicity
CHRNA2
(T56S)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
CHRNA2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
CHRNA2
(T47M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CHRNA2
(T22I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign
CHRNA2
Single nucleotide variant
(synonymous variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+1 more
GConflicting classifications of pathogenicity
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