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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC102724058, SCN1A
(M1841T +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
+1 more
GPathogenic
LOC102724058, SCN1A
(S1712F +5 more)
Single nucleotide variant
(missense variant +1 more)
SCN1A Seizure Disorders
+1 more
GPathogenic/Likely pathogenic
LOC102724058, SCN1A
(N1380H +5 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
LOC102724058, SCN1A
(N1253D +5 more)
Single nucleotide variant
(missense variant +1 more)
Severe myoclonic epilepsy in infancy
GUncertain significance
SCN1A
(T753A +4 more)
Single nucleotide variant
(missense variant +2 more)
SCN1A-related disorder
GLikely pathogenic
SCN1A
(R28H)
Single nucleotide variant
(missense variant +2 more)
SCN1A-related disorder
+4 more
GConflicting classifications of pathogenicity
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