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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1H
(V233I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1H
(D1102N)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence, susceptibility to, 6
GUncertain significance
CACNA1H
(R1142H)
Single nucleotide variant
(missense variant)
Epilepsy, childhood absence, susceptibility to, 6
+3 more
GConflicting classifications of pathogenicity
CACNA1H
(A1731T +1 more)
Single nucleotide variant
(missense variant)
Idiopathic generalized epilepsy
+3 more
GConflicting classifications of pathogenicity
CACNA1H
(F1840C +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
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