U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Search results

Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A, LOC130063717
(A2258V +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GConflicting classifications of pathogenicity
CACNA1A, LOC130063717
(S2247F +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GUncertain significance