"Counsyl"[submitter] AND "ASL"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553491	NM_000048.4(ASL):c.13-1G>C	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 551039	NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	ASL (D31N)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 555199	NM_000048.4(ASL):c.111_133del (p.Asp38fs)	ASL (D38fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 551377	NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)	ASL (Y45N)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 550394	NM_000048.4(ASL):c.209T>C (p.Val70Ala)	ASL (V70A)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 557253	NM_000048.4(ASL):c.260A>G (p.Asp87Gly)	ASL (D87G)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 550701	NM_000048.4(ASL):c.281G>A (p.Arg94His)	ASL (R94H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 555261	NM_000048.4(ASL):c.283_285delinsGGCG (p.Arg95fs)	ASL (R95fs)	Indel (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 558314	NM_000048.4(ASL):c.284G>A (p.Arg95His)	ASL (R95H)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 203624	NM_000048.4(ASL):c.291+1G>T	ASL	Single nucleotide variant (splice donor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 553428	NM_000048.4(ASL):c.292G>T (p.Glu98Ter)	ASL (E98*)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency	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 288770	NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	ASL (R111Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 553111	NM_000048.4(ASL):c.337C>T (p.Arg113Trp)	ASL (R113W)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 555191	NM_000048.4(ASL):c.338G>A (p.Arg113Gln)	ASL (R113Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 556429	NM_000048.4(ASL):c.377G>A (p.Arg126Gln)	ASL (R126Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 553540	NM_000048.4(ASL):c.446+2T>C	ASL	Single nucleotide variant (splice donor variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 557829	NM_000048.4(ASL):c.485A>G (p.Gln162Arg)	ASL (Q162R)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 166698	NM_000048.4(ASL):c.503G>A (p.Arg168His)	ASL (R168H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 224981	NM_000048.4(ASL):c.524+2T>G	ASL	Single nucleotide variant (splice donor variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 92362	NM_000048.4(ASL):c.544C>T (p.Arg182Ter)	ASL (R182*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 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 553200	NM_000048.4(ASL):c.577C>T (p.Arg193Trp)	ASL (R193W)	Single nucleotide variant (missense variant +1 more)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 372306	NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	ASL (R193Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 552393	NM_000048.4(ASL):c.631_647del (p.Val211fs)	ASL (V185fs +1 more)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	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 558682	NM_000048.4(ASL):c.638G>A (p.Arg213Gln)	ASL (R213Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 558224	NM_000048.4(ASL):c.686G>C (p.Ser229Thr)	ASL (S229T +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 224975	NM_000048.4(ASL):c.718+5G>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 552651	NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	ASL (W245* +1 more)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
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 555911	NM_000048.4(ASL):c.785T>C (p.Leu262Pro)	ASL (L262P +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 427091	NM_000048.4(ASL):c.839G>A (p.Gly280Glu)	ASL (G280E +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 554299	NM_000048.4(ASL):c.890G>A (p.Arg297Gln)	ASL (R297Q +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
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 554215	NM_000048.4(ASL):c.918+5G>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 557445	NM_000048.4(ASL):c.973_976del (p.Leu325fs)	ASL (L299fs +1 more)	Deletion (frameshift variant +1 more)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 360567	NM_000048.4(ASL):c.1026G>C (p.Val342=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 203629	NM_000048.4(ASL):c.1045_1057del (p.Val349fs)	ASL (V329fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
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 558386	NM_000048.4(ASL):c.1062+1G>T	ASL	Single nucleotide variant (splice donor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 226414	NM_000048.4(ASL):c.1079T>C (p.Met360Thr)	ASL (M360T +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 557440	NM_000048.4(ASL):c.1102A>G (p.Met368Val)	ASL (M368V +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 557503	NM_000048.4(ASL):c.1105del (p.Leu369fs)	ASL (L369fs +2 more)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely 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
Select item 552287	NM_000048.4(ASL):c.1154G>A (p.Arg385His)	ASL (R385H +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 553484	NM_000048.4(ASL):c.1164C>G (p.His388Gln)	ASL (H388Q +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GUncertain significance
Select item 552410	NM_000048.4(ASL):c.1207del (p.Val403fs)	ASL (V377fs +2 more)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 555741	NM_000048.4(ASL):c.1249_1250+12del	ASL	Deletion (splice donor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 555167	NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	ASL (L419fs +2 more)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203621	NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)	ASL (S433R +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 557968	NM_000048.4(ASL):c.1300G>T (p.Val434Leu)	ASL (V434L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 556889	NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)	ASL (Y437* +2 more)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 555323	NM_000048.4(ASL):c.1325del (p.Gly442fs)	ASL (G416fs +2 more)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
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

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Items: 59