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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RELN
(P672L)
Single nucleotide variant
(missense variant)
Norman-Roberts syndrome
+3 more
GConflicting classifications of pathogenicity
KAT6B
(S1047fs +7 more)
Microsatellite
(frameshift variant)
Genitopatellar syndrome
+4 more
GPathogenic
LGI1
Deletion
Epilepsy, familial temporal lobe, 1
GPathogenic
LGI1
(C42G)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
Gnot provided
LGI1
(C42R)
Single nucleotide variant
(missense variant +1 more)
Epilepsy, familial temporal lobe, 1
Gnot provided
LGI1
(C46R)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant epilepsy with auditory features
GPathogenic
LGI1
(A205fs +1 more)
Deletion
(frameshift variant +1 more)
Epilepsy, familial temporal lobe, 1
Gnot provided
LGI1
(S473L +1 more)
Single nucleotide variant
(missense variant +2 more)
Autosomal dominant epilepsy with auditory features
GLikely pathogenic
LGI1
(R474* +1 more)
Single nucleotide variant
(nonsense +2 more)
Autosomal dominant epilepsy with auditory features
GPathogenic
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