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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1C
(A39V)
Single nucleotide variant
(missense variant)
Brugada syndrome 3
GPathogenic
CACNA1C
(G406R)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 3
+4 more
GPathogenic/Likely pathogenic
CACNA1C
(G406R +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
+7 more
GPathogenic
CACNA1C
(G490R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
CACNA1C
(E1115K +2 more)
Single nucleotide variant
(missense variant)
Timothy syndrome
+3 more
GUncertain significance
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