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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1H
(R309H)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+2 more
GConflicting classifications of pathogenicity
CACNA1H
(G318S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1H
Single nucleotide variant
(synonymous variant)
Hyperaldosteronism, familial, type IV
+3 more
GBenign
CACNA1H
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CACNA1H
(A555V)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign
CACNA1H
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
+3 more
GBenign
CACNA1H
Single nucleotide variant
(synonymous variant)
Hyperaldosteronism, familial, type IV
+2 more
GBenign
CACNA1H
(T615M)
Single nucleotide variant
(missense variant)
CACNA1H-related condition
+3 more
GConflicting classifications of pathogenicity
CACNA1H
(P640L)
Single nucleotide variant
(missense variant)
Hyperaldosteronism, familial, type IV
+3 more
GBenign
CACNA1H
(V664A)
Single nucleotide variant
(missense variant)
Hyperaldosteronism, familial, type IV
+3 more
GBenign
CACNA1H
(A690V)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+2 more
GConflicting classifications of pathogenicity
CACNA1H
Single nucleotide variant
(synonymous variant)
Hyperaldosteronism, familial, type IV
+3 more
GBenign
CACNA1H
(R788C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
CACNA1H
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CACNA1H
Single nucleotide variant
(synonymous variant)
Hyperaldosteronism, familial, type IV
+3 more
GConflicting classifications of pathogenicity
CACNA1H
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
+4 more
GBenign
CACNA1H
Single nucleotide variant
(intron variant)
Hyperaldosteronism, familial, type IV
+3 more
GConflicting classifications of pathogenicity
CACNA1H
Single nucleotide variant
(synonymous variant)
Hyperaldosteronism, familial, type IV
+2 more
GConflicting classifications of pathogenicity
CACNA1H
(T1606M +1 more)
Single nucleotide variant
(missense variant)
Hyperaldosteronism, familial, type IV
+4 more
GBenign/Likely benign
CACNA1H
(A1966V +1 more)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence, susceptibility to, 6
+4 more
GBenign/Likely benign
CACNA1H
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
+3 more
GBenign
CACNA1H
(R2060H +1 more)
Single nucleotide variant
(missense variant)
Hyperaldosteronism, familial, type IV
+3 more
GBenign
CACNA1H
(R2077H +1 more)
Single nucleotide variant
(missense variant)
Hyperaldosteronism, familial, type IV
+4 more
GBenign
CACNA1H
Single nucleotide variant
(synonymous variant)
Hyperaldosteronism, familial, type IV
+3 more
GBenign/Likely benign
CACNA1H
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign
CACNA1H
Single nucleotide variant
(synonymous variant)
Idiopathic generalized epilepsy
+2 more
GConflicting classifications of pathogenicity
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