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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AGRN, LOC126805576
(G76S)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GLikely pathogenic
AGRN, LOC126805576
(N105I)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome
Gnot provided
AGRN
(Q353* +1 more)
Single nucleotide variant
(nonsense)
Congenital myasthenic syndrome 8
GPathogenic
AGRN
(S350fs +1 more)
Duplication
(frameshift variant)
Congenital myasthenic syndrome
Gnot provided
AGRN
(G1675S +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
(G1709R +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GPathogenic
AGRN, LOC129929078
(V1727F +1 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GLikely pathogenic
AGRN
(G1871R +2 more)
Single nucleotide variant
(missense variant)
Congenital myasthenic syndrome 8
GUncertain significance
AGRN
Deletion
Congenital myasthenic syndrome
GPathogenic
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