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Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCN3A
(S495R)
Single nucleotide variant
(missense variant)
Epilepsy, idiopathic generalized, susceptibility to, 7
GUncertain significance
CHRNA7
Single nucleotide variant
(splice acceptor variant)
Epilepsy, idiopathic generalized, susceptibility to, 7
Gno classifications from unflagged records
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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