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Links from MedGen

Items: 1 to 100 of 171

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CACNA1A
(P1214L +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
(R1006L +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GUncertain significance
CACNA1A
(V2031L +3 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
(C272*)
Single nucleotide variant
(nonsense)
Migraine, familial hemiplegic, 1
GLikely pathogenic
CACNA1A
Copy number loss
Developmental and epileptic encephalopathy, 42
+3 more
Gnot provided
CACNA1A
(E1979A +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
Gnot provided
WDR45
(G330R +1 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
(Q413*)
Single nucleotide variant
(nonsense)
Episodic ataxia type 2
+1 more
GPathogenic
CACNA1A
(L1804F +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+2 more
Gnot provided
CACNA1A
(T1512A +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GLikely pathogenic
CACNA1A
(R1029G +2 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+4 more
GUncertain significance
CACNA1A
(A2091T +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GUncertain significance
CACNA1A
Single nucleotide variant
(splice donor variant)
Migraine, familial hemiplegic, 1
+2 more
GPathogenic/Likely pathogenic
CACNA1A
(R2370Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
(E1568K +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
Single nucleotide variant
(splice acceptor variant)
Migraine, familial hemiplegic, 1
GPathogenic
CACNA1A
(F1505L +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+2 more
Gnot provided
CACNA1A
(Q1673fs +3 more)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 52
+3 more
GPathogenic
CACNA1A
(I1707T +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+3 more
GLikely pathogenic
CACNA1A
(S218P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+3 more
GLikely pathogenic
CACNA1A
(L617S +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+3 more
GLikely pathogenic
CACNA1A
Deletion
(inframe_deletion)
Developmental and epileptic encephalopathy, 52
+3 more
GLikely pathogenic
CACNA1A
(G700E +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+3 more
GLikely pathogenic
CACNA1A
(V713M +1 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GPathogenic/Likely pathogenic
CACNA1A, LOC126862865
(D1316E +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+3 more
GLikely pathogenic
CACNA1A
(V1806A +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+3 more
GLikely pathogenic
CACNA1A
(L1344P +2 more)
Single nucleotide variant
(missense variant)
CACNA1A-associated disorder
+4 more
GPathogenic/Likely pathogenic
CACNA1A
(A1507T +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GPathogenic
CACNA1A
Single nucleotide variant
(splice donor variant)
Migraine, familial hemiplegic, 1
GLikely pathogenic
CACNA1A
(D2190N +3 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+2 more
GUncertain significance
CACNA1A
(G1002R +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(N283S)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(K771* +2 more)
Single nucleotide variant
(nonsense)
Migraine, familial hemiplegic, 1
+4 more
GPathogenic
CACNA1A
(V1811I +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+4 more
GPathogenic/Likely pathogenic
CACNA1A
(C281fs)
Deletion
(frameshift variant)
Developmental and epileptic encephalopathy, 52
+4 more
GPathogenic
CACNA1A
(G998E +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GUncertain significance
CACNA1A
(A44T)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(R1779* +3 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GPathogenic
CACNA1A
(N830D +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+1 more
GUncertain significance
CACNA1A, LOC108663985
(Q2325del +1 more)
Microsatellite
(3 prime UTR variant +1 more)
Episodic ataxia type 2
+4 more
GBenign
CACNA1A, LOC108663985
Microsatellite
(3 prime UTR variant +1 more)
not provided
+4 more
GBenign/Likely benign
CACNA1A
(A2443V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
+4 more
GBenign/Likely benign
CACNA1A, LOC108663985
Microsatellite
(3 prime UTR variant +1 more)
not provided
+4 more
GBenign
CACNA1A
(P2421L +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Migraine, familial hemiplegic, 1
+4 more
GLikely benign
CACNA1A
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 6
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
CACNA1A
Microsatellite
(intron variant)
not provided
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
CACNA1A
Deletion
(intron variant)
Spinocerebellar ataxia type 6
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 6
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+4 more
GBenign
CACNA1A
(R2123P +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(H2218P +3 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
CACNA1A
(G1135S +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(G2481R +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Spinocerebellar ataxia type 6
+4 more
GUncertain significance
CACNA1A
(I1602V +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GUncertain significance
CACNA1A
(T1355I +2 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(S615R +1 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(S1343P +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+2 more
GConflicting classifications of pathogenicity
CACNA1A
(T1355N +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GPathogenic/Likely pathogenic
CACNA1A
(S1343Y +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A, LOC126862864
(C1368S +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
(R1355Q +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+6 more
GPathogenic/Likely pathogenic
CACNA1A
(R1756W +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(E512K +1 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(L389P)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+2 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
(H2216P +3 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CACNA1A
(R936Q +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(E1212* +2 more)
Single nucleotide variant
(nonsense)
Migraine, familial hemiplegic, 1
GLikely pathogenic
CACNA1A
Deletion
(splice donor variant)
not provided
+2 more
GUncertain significance
CACNA1A, LOC126862865
(V1305I +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
CACNA1A
(E436K +1 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GUncertain significance
CACNA1A
(F550fs +1 more)
Deletion
(frameshift variant)
Episodic ataxia type 2
+3 more
GPathogenic/Likely pathogenic
CACNA1A
(Y546* +1 more)
Single nucleotide variant
(nonsense)
Episodic ataxia type 2
+4 more
GPathogenic
CACNA1A
(L231R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CACNA1A, LOC126862866
(I345M)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+3 more
GUncertain significance
CACNA1A, LOC126862866
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+6 more
GBenign/Likely benign
CACNA1A
(I613M +1 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+3 more
GLikely pathogenic
CACNA1A
(E400V)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+3 more
Gnot provided
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Spinocerebellar ataxia type 6
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 1
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 42
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
Migraine, familial hemiplegic, 1
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
CACNA1A
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
CACNA1A
(I108V)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+1 more
GLikely pathogenic
CACNA1A
(R1667P +3 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+6 more
GPathogenic/Likely pathogenic
CACNA1A
Deletion
(3 prime UTR variant +1 more)
Episodic ataxia type 2
+13 more
GConflicting classifications of pathogenicity
CACNA1A
Single nucleotide variant
(splice donor variant)
Episodic ataxia type 2
+3 more
GConflicting classifications of pathogenicity
CACNA1A
(G899S +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(G230V)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GUncertain significance
CACNA1A
(R279C)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+6 more
GPathogenic/Likely pathogenic
CACNA1A
(R1558H +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+4 more
GUncertain significance
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+4 more
GBenign/Likely benign
CACNA1A
Single nucleotide variant
(intron variant)
Episodic ataxia type 2
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(P969fs +2 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
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