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Links from Gene

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STX1B
(L46M)
Indel
(missense variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
STX1B
Insertion
(inframe_indel)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
STX1B
(L211P)
Single nucleotide variant
(missense variant)
Generalized epilepsy with febrile seizures plus, type 9
GUncertain significance
STX1B
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 9
GUncertain significance
STX1B
Duplication
(inframe_insertion)
Generalized epilepsy with febrile seizures plus, type 9
GLikely pathogenic
STX1B
Single nucleotide variant
(intron variant)
Generalized epilepsy with febrile seizures plus, type 9
GUncertain significance
STX1B
(H238N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
STX1B
(H238R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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