C0268547[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 14

	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 721020	NM_000048.4(ASL):c.99C>G (p.His33Gln)	ASL (H33Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 92359	NM_000048.4(ASL):c.280C>T (p.Arg94Cys)	ASL (R94C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2398	NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	ASL (R95C)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 203613	NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	ASL (R182Q)	Single nucleotide variant (missense variant +1 more)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 445881	NM_000048.4(ASL):c.571C>T (p.Arg191Trp)	ASL (R191W)	Single nucleotide variant (missense variant +1 more)	Argininosuccinate lyase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 555574	NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	ASL (R236Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 92367	NM_000048.4(ASL):c.976C>A (p.Gln326Lys)	ASL (Q326K +1 more)	Single nucleotide variant (missense variant +1 more)	Argininosuccinate lyase deficiency +2 more	GUncertain significance
Select item 21253	NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)	ASL (Q354* +2 more)	Single nucleotide variant	not provided +1 more	GPathogenic
Select item 360568	NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)	ASL (Y375C +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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
Select item 1991344	NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)	ASL (I426F +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 551210	NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)	ASL (R456Q +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic