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

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Items: 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 445433	NM_001673.5(ASNS):c.1465G>A (p.Val489Ile)	ASNS, CZ1P-ASNS (V489I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 842544	NM_001673.5(ASNS):c.1320+1G>C	ASNS, CZ1P-ASNS	Single nucleotide variant (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 1252063	NM_001673.5(ASNS):c.1211G>A (p.Arg404His)	ASNS, CZ1P-ASNS (R321H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GLikely pathogenic
Select item 91840	NM_001673.5(ASNS):c.1084T>G (p.Phe362Val)	CZ1P-ASNS, ASNS (F362V +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1223825	NM_001673.5(ASNS):c.868A>G (p.Met290Val)	ASNS, CZ1P-ASNS (M207V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +2 more	GUncertain significance
Select item 951638	NM_001673.5(ASNS):c.277C>T (p.Gln93Ter)	ASNS, CZ1P-ASNS (Q10* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome +1 more	GPathogenic/Likely pathogenic