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Links from OMIM

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN3B
(R6K)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 16
GPathogenic
SCN3B
(M161T)
Single nucleotide variant
(missense variant)
Atrial fibrillation, familial, 16
GPathogenic
SCN3B
(V54G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
SCN1B
(D153N +1 more)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 1
+6 more
GUncertain significance
SCN1B
(R85H +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 52
+6 more
GPathogenic/Likely pathogenic
SCN3B
(L10P)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
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