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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC100133077, CACNA1B
(P32L)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
GUncertain significance
CACNA1B
(R957W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
GUncertain significance
CACNA1B
(A1819T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
+1 more
GConflicting classifications of pathogenicity
CACNA1B
(R2114W)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
GUncertain significance
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