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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SELENON
(M1V)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy with fiber type disproportion
+2 more
GPathogenic/Likely pathogenic
SELENON
(N238fs +1 more)
Duplication
(frameshift variant)
Eichsfeld type congenital muscular dystrophy
+2 more
GPathogenic
SELENON
(G239R +1 more)
Single nucleotide variant
(missense variant)
Mucopolysaccharidosis, MPS-III-A
+3 more
GPathogenic/Likely pathogenic
SELENON
(V299fs +1 more)
Deletion
(frameshift variant)
Congenital myopathy with fiber type disproportion
+2 more
GPathogenic
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