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

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92360	NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	ASL (R12Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 495379	NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	ASL (I100T)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 552765	NM_000048.4(ASL):c.447-1G>A	ASL	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203612	NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	ASL (W169C)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 2402	NM_000048.4(ASL):c.532G>A (p.Val178Met)	ASL (V178M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 933174	NM_000048.4(ASL):c.557G>A (p.Arg186Gln)	ASL (R186Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 555511	NM_000048.4(ASL):c.566A>G (p.Glu189Gly)	ASL (E189G)	Single nucleotide variant (missense variant +1 more)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 92365	NM_000048.4(ASL):c.602+1G>A	ASL	Single nucleotide variant (splice donor variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 426366	NM_000048.4(ASL):c.637C>T (p.Arg213Ter)	ASL (R213* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 203615	NM_000048.4(ASL):c.649C>T (p.Arg217Ter)	ASL (R217* +1 more)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency +1 more	GPathogenic
Select item 1168791	NM_000048.4(ASL):c.656-3dup	ASL	Duplication (intron variant)	Argininosuccinate lyase deficiency	GBenign/Likely benign
Select item 554621	NM_000048.4(ASL):c.772G>A (p.Glu258Lys)	ASL (E258K +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 2399	NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	ASL (Q286R +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic
Select item 553483	NM_000048.4(ASL):c.916C>T (p.Arg306Trp)	ASL (R306W +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 2403	NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	ASL (R379C +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2401	NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	ASL (R385C +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic