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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic generalized epilepsy
+2 more
GLikely benign
CACNB4
(S31R +1 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+3 more
GUncertain significance
LOC129934925, CACNB4
(P15R)
Single nucleotide variant
(missense variant)
Juvenile myoclonic epilepsy
+5 more
GConflicting classifications of pathogenicity
CACNB4, LOC129934925
(S2F)
Single nucleotide variant
(missense variant)
Episodic ataxia type 5
+5 more
GConflicting classifications of pathogenicity
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