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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MVP-DT, PRRT2
Single nucleotide variant
(splice acceptor variant)
Seizures, benign familial infantile, 2
GPathogenic
JMJD1C
(P218A +4 more)
Single nucleotide variant
(missense variant +1 more)
Early myoclonic encephalopathy
+1 more
GConflicting classifications of pathogenicity
DEPDC5
(A502V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PCDH19
(D375V)
Single nucleotide variant
(missense variant)
Bilateral tonic-clonic seizure
GLikely pathogenic
SCN3A
(S495R)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 7
GUncertain significance
GRIN2B
(H1145R)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 27
+1 more
GUncertain significance
SPTAN1
(G1773C +4 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 5
GUncertain significance
SLC2A1
(L231P)
Single nucleotide variant
(missense variant)
Childhood onset GLUT1 deficiency syndrome 2
GLikely pathogenic
KCNA1
(G396R)
Single nucleotide variant
(missense variant)
Generalized epilepsy-paroxysmal dyskinesia syndrome
GLikely pathogenic
KCNA1
(G396V)
Single nucleotide variant
(missense variant)
Episodic kinesigenic dyskinesia
+1 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(N1205K)
Single nucleotide variant
(missense variant)
Familial hyperkalemic periodic paralysis
+2 more
GConflicting classifications of pathogenicity
SLC2A1
(M96T)
Single nucleotide variant
(missense variant)
Encephalopathy due to GLUT1 deficiency
+2 more
GPathogenic/Likely pathogenic
GH-LCR, SCN4A
(R1454W)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 16
+1 more
GConflicting classifications of pathogenicity
EFHC1
(R353W +1 more)
Single nucleotide variant
(missense variant +1 more)
Seizure
+3 more
GConflicting classifications of pathogenicity
EFHC1
(R244Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, idiopathic generalized, susceptibility to, 7
+3 more
GConflicting classifications of pathogenicity
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