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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN1B
(R39H +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
SCN1B
(R89H +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN1B
(C121W +1 more)
Single nucleotide variant
(missense variant)
SCN1B-related disorder
+7 more
GPathogenic/Likely pathogenic
SCN1B
(R125C +1 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
SCN1B
(D153N +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 1
+6 more
GUncertain significance
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