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Links from MedGen

Items: 1 to 100 of 133

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNB4
(Y21C +3 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 5
GUncertain significance
CACNB4
(R320Q +9 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
(Y478C +9 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
Episodic ataxia type 5
GUncertain significance
CACNB4
(S159G +3 more)
Single nucleotide variant
(missense variant +1 more)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
GUncertain significance
CACNB4, LOC129934925
(G14R)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(synonymous variant +1 more)
Idiopathic generalized epilepsy
+2 more
GLikely benign
CACNB4
(R437Q +9 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 5
+1 more
GConflicting classifications of pathogenicity
CACNB4
(S31R +1 more)
Single nucleotide variant
(missense variant)
CACNB4-related disorder
+4 more
GUncertain significance
CACNB4, LOC129934925
(A12S)
Single nucleotide variant
(missense variant)
Episodic ataxia type 5
+2 more
GUncertain significance
CACNB4
(E490D +9 more)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 9
+2 more
GUncertain significance
CACNB4
Single nucleotide variant
(intron variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
(D63H +3 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
(V113F +3 more)
Single nucleotide variant
(missense variant +1 more)
Juvenile myoclonic epilepsy
+2 more
GUncertain significance
CACNB4
Single nucleotide variant
(intron variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
(C190R +2 more)
Single nucleotide variant
(synonymous variant +2 more)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GLikely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+2 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+2 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+2 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign/Likely benign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GBenign
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Juvenile myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
CACNB4
Single nucleotide variant
(3 prime UTR variant)
Episodic ataxia type 5
+1 more
GUncertain significance
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