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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(R1646H +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ARFGEF1-DT, CPA6
(G267R)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
CPA6
(Q207E)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
ACOT8, ACTR5
+124 more
Deletion
Focal-onset seizure
GLikely pathogenic
GRIA3
(T776M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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