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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(H2214Q +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
not provided
+2 more
GUncertain significance
CACNA1A
(E1568K +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
(E1424* +2 more)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
(R1346* +2 more)
Single nucleotide variant
(nonsense)
See cases
+3 more
GPathogenic
CACNA1A
(Q680fs +1 more)
Deletion
(frameshift variant)
Episodic ataxia type 2
+4 more
GPathogenic/Likely pathogenic
CACNA1A
Deletion
(splice donor variant)
not provided
+2 more
GUncertain significance
CACNA1A
(S428fs +1 more)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
GUncertain significance
CACNA1A, LOC126862866
(Y339C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GUncertain significance
CACNA1A
(G230S)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GConflicting classifications of pathogenicity
CACNA1A
(I108V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GLikely pathogenic
CACNA1A
(Y12H)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
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