"Genome-Nilou Lab"[submitter] AND "SELENON"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 95963	NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr)	SELENON (C142Y +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 261271	NM_020451.3(SELENON):c.1093-46C>A	SELENON	Single nucleotide variant (intron variant)	Eichsfeld type congenital muscular dystrophy +2 more	GBenign
Select item 95956	NM_020451.3(SELENON):c.1173T>C (p.Pro391=)	SELENON	Single nucleotide variant (synonymous variant)	Eichsfeld type congenital muscular dystrophy +3 more	GBenign
Select item 261274	NM_020451.3(SELENON):c.1282-41C>T	SELENON	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 95959	NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)	SELENON (N502K +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign

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