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Links from MedGen

Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNB4
(R214H +8 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, idiopathic generalized, susceptibility to, 9
Gnot provided
CACNB4
(A102V +8 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 9
GUncertain significance
CACNB4
(V170I +2 more)
Single nucleotide variant
(synonymous variant +1 more)
Epilepsy, idiopathic generalized, susceptibility to, 9
GUncertain significance
CACNB4
Single nucleotide variant
(intron variant)
Epilepsy, idiopathic generalized, susceptibility to, 9
GUncertain significance
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic generalized epilepsy
+2 more
GLikely benign
CACNB4
(S31R +1 more)
Single nucleotide variant
(missense variant)
CACNB4-related disorder
+4 more
GUncertain significance
CACNB4
(E490D +9 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 9
+2 more
GUncertain significance
CACNB4
(Q170fs +4 more)
Deletion
(frameshift variant +1 more)
Epilepsy, idiopathic generalized, susceptibility to, 9
GPathogenic
CACNB4
(V113F +3 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+2 more
GUncertain significance
CACNB4, LOC129934925
(P15R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
CACNB4
(R452K +9 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4, LOC129934925
(S2F)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
CACNB4
(C104F +3 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 5
+4 more
GConflicting classifications of pathogenicity
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