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Items: 1 to 100 of 105

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
CACNA1A
(R2233W +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Insertion
(inframe_insertion)
CACNA1A-related disorder
+5 more
GConflicting classifications of pathogenicity
CACNA1A
Microsatellite
(inframe_insertion)
Episodic ataxia type 2
+2 more
GUncertain significance
CACNA1A
Deletion
(inframe_deletion)
not specified
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Indel
(inframe_insertion)
not specified
+1 more
GConflicting classifications of pathogenicity
CACNA1A
Microsatellite
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+6 more
GBenign/Likely benign
CACNA1A
Microsatellite
(inframe_deletion)
CACNA1A-related disorder
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(R2206W +3 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CACNA1A
(R2170C +3 more)
Single nucleotide variant
(missense variant)
CACNA1A-related disorder
+6 more
GConflicting classifications of pathogenicity
CACNA1A
(R2165H +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(R2156L +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(R2134Q +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+6 more
GBenign
CACNA1A
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+6 more
GBenign/Likely benign
CACNA1A
(R2103K +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GUncertain significance
CACNA1A
(G2087V +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(P2002S +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(R1983Q +3 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(R1967Q +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+3 more
GBenign
CACNA1A
Single nucleotide variant
(synonymous variant)
CACNA1A-related disorder
+4 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(V1885I +3 more)
Single nucleotide variant
(missense variant)
CACNA1A-related disorder
+7 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(A1808T +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(D1725N +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(A1700T +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GUncertain significance
CACNA1A
(T1684I +3 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1A
(R1673C +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+5 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A, LOC126862864
(K1411E +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CACNA1A, LOC126862864
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+5 more
GConflicting classifications of pathogenicity
CACNA1A, LOC126862864
(V1393M +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+7 more
GPathogenic/Likely pathogenic
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+2 more
GUncertain significance
CACNA1A
Single nucleotide variant
(splice donor variant)
Episodic ataxia type 2
+4 more
GPathogenic
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+4 more
GBenign/Likely benign
CACNA1A
(G1214S +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(E1207del +2 more)
Microsatellite
(inframe_deletion)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(K1203del +2 more)
Microsatellite
(inframe_deletion)
Spinocerebellar ataxia type 6
+6 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+4 more
GBenign
CACNA1A
Single nucleotide variant
(synonymous variant)
CACNA1A-related disorder
+4 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+4 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(Q1154E +2 more)
Single nucleotide variant
(missense variant)
CACNA1A-related disorder
+5 more
GBenign/Likely benign
CACNA1A
(V1147I +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(P1138A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
CACNA1A
(A1120T +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(G1105S +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+4 more
GBenign
CACNA1A
(E1032G +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+3 more
GBenign
CACNA1A
(E1015K +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(R1007W +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1A
Microsatellite
(inframe_insertion)
CACNA1A-related disorder
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(E993V +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GBenign
CACNA1A
(R957L +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(A952V +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CACNA1A
(E918D +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GBenign
CACNA1A
(P914S +2 more)
Indel
(missense variant)
not specified
+1 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
CACNA1A-related disorder
+4 more
GBenign
CACNA1A
(P914S +2 more)
Single nucleotide variant
(missense variant)
CACNA1A-related disorder
+5 more
GBenign/Likely benign
CACNA1A
(P897R +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(R894Q +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+4 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CACNA1A
(I712F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+3 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
CACNA1A-related disorder
+3 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
CACNA1A-related disorder
+5 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+4 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+6 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+4 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(R455Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(A454T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+7 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
CACNA1A
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 42
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+5 more
GBenign
CACNA1A
(N390K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
CACNA1A, LOC126862866
(L356P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(G266S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(synonymous variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
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