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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA4, LOC126863087
(I123V)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
CHRNA4, LOC126863087
(P121L)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+2 more
GUncertain significance
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GLikely benign
CHRNA4, LOC126863087
(D104A)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CHRNA4, LOC126863087
(R99H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CHRNA4, LOC126863087
(E92Q)
Single nucleotide variant
(missense variant +2 more)
not provided
+5 more
GConflicting classifications of pathogenicity
CHRNA4, LOC126863087
(V87L)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LOC126863087, CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign/Likely benign
CHRNA4, LOC126863087
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+2 more
GLikely benign
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