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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(S2379F +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Developmental and epileptic encephalopathy, 42
GUncertain significance
CACNA1A, LOC130063717
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+1 more
GConflicting classifications of pathogenicity
CACNA1A, LOC130063717
(G2252C +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
CACNA1A
(T2184A +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GUncertain significance
CACNA1A
(R2169H +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GUncertain significance
CACNA1A
(E2027G +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(P2002S +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+3 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(S1799L +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+5 more
GPathogenic/Likely pathogenic
CACNA1A
(L1694Q +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GLikely pathogenic
CACNA1A
(R1664Q +3 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
CACNA1A, LOC126862864
(V1393M +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+7 more
GPathogenic/Likely pathogenic
CACNA1A
(P1353L +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GPathogenic
CACNA1A
(R1349Q +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+6 more
GPathogenic/Likely pathogenic
CACNA1A
Single nucleotide variant
(splice donor variant)
Episodic ataxia type 2
+2 more
GPathogenic/Likely pathogenic
CACNA1A
(P1181L +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GConflicting classifications of pathogenicity
CACNA1A
(T1101I +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Microsatellite
(inframe_insertion)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(S892G +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GUncertain significance
CACNA1A
(S875L +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GUncertain significance
CACNA1A
(Q634R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
GUncertain significance
CACNA1A
(R374W)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
(R369W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GUncertain significance
CACNA1A
(P42S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GUncertain significance
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