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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000523, CRH
(P30R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CRH
Single nucleotide variant
Autosomal dominant nocturnal frontal lobe epilepsy
Gnot provided
CRH
Single nucleotide variant
CRH-related condition
GLikely benign
CHRNA4
(R336H +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
GBenign
CHRNA4
(S284L +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nocturnal frontal lobe epilepsy
+3 more
GPathogenic
DEPDC5
(T864M +3 more)
Single nucleotide variant
(missense variant +1 more)
Familial focal epilepsy with variable foci
+2 more
GConflicting classifications of pathogenicity
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