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Links from MedGen

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1B
(W171R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 52
GUncertain significance
SCN1B
(G266fs)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 52
GLikely pathogenic
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)
Developmental and epileptic encephalopathy, 52
+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)
Developmental and epileptic encephalopathy, 52
+4 more
GPathogenic
SCN1B
(E162A +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+4 more
GUncertain significance
CACNA1A
(K771* +2 more)
Single nucleotide variant
(nonsense)
Migraine, familial hemiplegic, 1
+4 more
GPathogenic
CACNA1A
(V1811I +3 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+4 more
GPathogenic/Likely pathogenic
SCN1B
(A154D +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+5 more
GUncertain significance
CACNA1A
(C281fs)
Deletion
(frameshift variant)
Spinocerebellar ataxia type 6
+4 more
GPathogenic
CACNA1A
(R1779* +3 more)
Single nucleotide variant
(nonsense)
Spinocerebellar ataxia type 6
+4 more
GPathogenic
CACNA1A
(T1355I +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(S615R +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+4 more
GConflicting classifications of pathogenicity
CACNA1A
(T1355N +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+4 more
GPathogenic/Likely pathogenic
CACNA1A
(S1343Y +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(R1355Q +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+6 more
GPathogenic/Likely pathogenic
SCN1B
Single nucleotide variant
(3 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+3 more
GUncertain significance
SCN1B
Single nucleotide variant
(3 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+3 more
GUncertain significance
SCN1B
(E84K +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+4 more
GUncertain significance
CACNA1A
(Y546* +1 more)
Single nucleotide variant
(nonsense)
Episodic ataxia type 2
+4 more
GPathogenic
SCN1B
(R56C +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 1
+5 more
GConflicting classifications of pathogenicity
SCN1B
(Y119D +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
GPathogenic
SCN1B
Single nucleotide variant
(splice acceptor variant)
Brugada syndrome 5
+1 more
GConflicting classifications of pathogenicity
CACNA1A
(R1667P +3 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+6 more
GPathogenic/Likely pathogenic
SCN1B
(S116L +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+5 more
GUncertain significance
SCN1B
(T53N +1 more)
Single nucleotide variant
(missense variant)
Brugada syndrome 5
+3 more
GUncertain significance
CACNA1A
(R279C)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+6 more
GPathogenic/Likely pathogenic
SCN1B
(V139I +1 more)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 13
+5 more
GUncertain significance
SCN1B
Single nucleotide variant
(synonymous variant)
Brugada syndrome 5
+5 more
GLikely benign
SCN1B
(W183L)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+2 more
GUncertain significance
SCN1B
(R214W)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 1
+4 more
GUncertain significance
SCN1B
Single nucleotide variant
(3 prime UTR variant)
not specified
+1 more
GUncertain significance
SCN1B
(P184L)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+4 more
GUncertain significance
CACNA1A
(I712M +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(D1634N +2 more)
Single nucleotide variant
(missense variant)
Episodic ataxia type 2
+6 more
GPathogenic/Likely pathogenic
SCN1B
(R45C +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
CACNA1A
(D1644N +2 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(P1353L +2 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GPathogenic
CACNA1A
(S1799L +3 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+5 more
GPathogenic/Likely pathogenic
SCN1B
(R191W)
Single nucleotide variant
(missense variant +1 more)
Generalized epilepsy with febrile seizures plus, type 1
+4 more
GUncertain significance
CACNA1A
(R1349Q +2 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+6 more
GPathogenic/Likely pathogenic
SCN1B
(I106F +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
GPathogenic
SCN1B
(R125C +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 1
+5 more
GConflicting classifications of pathogenicity
CACNA1A
(R1672P +3 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+3 more
GLikely pathogenic
SCN1B
Single nucleotide variant
(5 prime UTR variant)
Generalized epilepsy with febrile seizures plus, type 1
+3 more
GUncertain significance
SCN1B
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 1
+5 more
GBenign/Likely benign
CACNA1A
(A713T +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+7 more
GPathogenic/Likely pathogenic
CACNA1A, LOC126862864
(V1393M +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
+7 more
GPathogenic/Likely pathogenic
SCN1B
(R125H +1 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GUncertain significance
SCN1B
(T28A)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+5 more
GUncertain significance
SCN1B
(C211Y +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+3 more
GConflicting classifications of pathogenicity
SCN1B
(A197V +1 more)
Single nucleotide variant
(missense variant)
SCN1B-related disorder
+6 more
GConflicting classifications of pathogenicity
SCN1B
(L13P)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 13
+6 more
GUncertain significance
SCN1B
(R89H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN1B
(R85C +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 1
+4 more
GConflicting classifications of pathogenicity
SCN1B
(R45H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
SCN1B
(G257R)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GBenign/Likely benign
SCN1B
(R214Q)
Single nucleotide variant
(missense variant +1 more)
Brugada syndrome 5
+6 more
GConflicting classifications of pathogenicity
SCN1B
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
SCN1B
(D153N +1 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
SCN1B
(R85H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
SCN1B
(E87Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+1 more
GUncertain significance
SCN1B
(C121W +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus
+6 more
GPathogenic/Likely pathogenic
CACNA1A
(R583Q +1 more)
Single nucleotide variant
(missense variant)
Spinocerebellar ataxia type 6
+5 more
GPathogenic
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