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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ATP1A2
(G301R)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
GPathogenic
ATP1A2
(D718N)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GLikely pathogenic
ATP1A2
(L764P)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GPathogenic
ATP1A2
(W887R)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 2
GPathogenic
ATP1A2
(P979L)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+2 more
GPathogenic
SCN1A
(L263V)
Single nucleotide variant
(missense variant +2 more)
Early infantile epileptic encephalopathy with suppression bursts
GPathogenic
CACNA1A
(I1809L +3 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+1 more
GPathogenic
CACNA1A
(V1455L +2 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GPathogenic
CACNA1A
(D715E +1 more)
Single nucleotide variant
(missense variant)
Familial hemiplegic migraine
+1 more
Gnot provided
CACNA1A
(V714A +1 more)
Single nucleotide variant
(missense variant)
Migraine, familial hemiplegic, 1
GPathogenic
CACNA1A
(T666M +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+4 more
GPathogenic
CACNA1A
(R583Q +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+5 more
GPathogenic
CACNA1A
(S218L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GPathogenic/Likely pathogenic
CACNA1A
(R192Q)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 42
+2 more
GPathogenic
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