"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SELENON"[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4491	NM_020451.3(SELENON):c.1A>G (p.Met1Val)	SELENON (M1V)	Single nucleotide variant (missense variant +1 more)	Eichsfeld type congenital muscular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 426515	NM_020451.3(SELENON):c.4G>T (p.Gly2Cys)	SELENON (G2C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 461633	NM_020451.3(SELENON):c.402_403+2del	SELENON	Deletion (splice donor variant +1 more)	Eichsfeld type congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 212148	NM_020451.3(SELENON):c.415G>A (p.Ala139Thr)	SELENON (A139T +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 4494	NM_020451.3(SELENON):c.713dup (p.Asn238fs)	SELENON (N238fs +1 more)	Duplication (frameshift variant)	Eichsfeld type congenital muscular dystrophy +2 more	GPathogenic
Select item 280026	NM_020451.3(SELENON):c.872G>A (p.Arg291Gln)	SELENON (R291Q +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 4496	NM_020451.3(SELENON):c.943G>A (p.Gly315Ser)	SELENON (G315S +1 more)	Single nucleotide variant (missense variant)	Eichsfeld type congenital muscular dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 1443358	NM_020451.3(SELENON):c.988C>T (p.Arg330Trp)	SELENON (R296W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 261278	NM_020451.3(SELENON):c.1645G>A (p.Val549Met)	SELENON (V549M +1 more)	Single nucleotide variant (missense variant)	Congenital myopathy with fiber type disproportion +4 more	GBenign/Likely benign
Select item 281048	NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn)	SELENON (T572N +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity