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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SELENON
Single nucleotide variant
(splice donor variant)
Eichsfeld type congenital muscular dystrophy
GLikely pathogenic
SELENON
(G315S +1 more)
Single nucleotide variant
(missense variant)
SEPN1-related disorder
+5 more
GPathogenic/Likely pathogenic