"Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 592100	NM_020451.3(SELENON):c.455G>T (p.Ser152Ile)	SELENON (S152I +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance
Select item 297024	NM_020451.3(SELENON):c.550G>C (p.Ala184Pro)	SELENON (A184P +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +3 more	GBenign/Likely benign