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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHRNA4, LOC100130587
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
LOC100130587, CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+4 more
GBenign
CHRNA4, LOC100130587
(L15P)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
LOC100130587, CHRNA4
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CHRNA4, LOC100130587
Single nucleotide variant
(synonymous variant +2 more)
Inborn genetic diseases
+5 more
GBenign/Likely benign
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