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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LGI1
(E56G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LGI1
(R136Q)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
+1 more
GUncertain significance
LGI1
(D220N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LGI1
(T271I +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant epilepsy with auditory features
+2 more
GConflicting classifications of pathogenicity
LGI1
(R311* +1 more)
Single nucleotide variant
(nonsense +2 more)
Seizure
+1 more
GLikely pathogenic
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