C0410180[trait identifier] AND "3billion"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444322	NM_020451.3(SELENON):c.1222G>T (p.Glu408Ter)	SELENON (E374* +1 more)	Single nucleotide variant (nonsense)	Eichsfeld type congenital muscular dystrophy	GPathogenic/Likely pathogenic
Select item 1025827	NM_020451.3(SELENON):c.1574T>G (p.Met525Arg)	SELENON (M491R +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy	GUncertain significance