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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(D2190N +3 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+2 more
GUncertain significance
CACNA1A
(A2162T +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(R2123P +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(G2043V +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
GUncertain significance
CACNA1A
(M2038T +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
(T1943M +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(A961V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(R957Q +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GUncertain significance
CACNA1A
(K594T +1 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
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