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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+2 more
GBenign/Likely benign
CACNB4
(T499S +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(synonymous variant)
CACNB4-related condition
+5 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(intron variant)
not specified
+4 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
CACNB4-related condition
+2 more
GBenign
CACNB4
(M219V +8 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
CACNB4
(G173R +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic generalized epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4, LOC129934925
(P15R)
Single nucleotide variant
(missense variant)
CACNB4-related condition
+6 more
GConflicting classifications of pathogenicity
CACNB4, LOC129934925
Single nucleotide variant
(synonymous variant)
CACNB4-related condition
+2 more
GConflicting classifications of pathogenicity
CACNB4, LOC129934925
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC129934925, CACNB4
(S2F)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 9
+6 more
GConflicting classifications of pathogenicity
CACNB4, LOC129934925
Single nucleotide variant
(5 prime UTR variant)
not provided
GUncertain significance
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