"Baylor Genetics"[submitter] AND "ASL"[gene] - ClinVar

Search results

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2678621	NM_000048.4(ASL):c.29del (p.Gly10fs)	ASL (G10fs)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 92360	NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	ASL (R12Q)	Single nucleotide variant (missense variant)	ASL-related condition +3 more	GPathogenic/Likely 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 2678767	NM_000048.4(ASL):c.106G>T (p.Glu36Ter)	ASL (E36*)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency	GPathogenic
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 224970	NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	ASL (E59K)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 285041	NM_000048.4(ASL):c.207G>A (p.Lys69=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency +1 more	GUncertain significance
Select item 2678649	NM_000048.4(ASL):c.208-1G>T	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2678648	NM_000048.4(ASL):c.226C>T (p.Gln76Ter)	ASL (Q76*)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency	GLikely pathogenic
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 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 495379	NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	ASL (I100T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678788	NM_000048.4(ASL):c.305dup (p.Thr103fs)	ASL (T103fs)	Duplication (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2678665	NM_000048.4(ASL):c.311C>T (p.Ala104Val)	ASL (A104V)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2678785	NM_000048.4(ASL):c.329dup (p.Arg111fs)	ASL (R111fs)	Duplication (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 1489478	NM_000048.4(ASL):c.331C>T (p.Arg111Trp)	ASL (R111W)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 288770	NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	ASL (R111Q)	Single nucleotide variant (missense variant)	not provided +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 2678730	NM_000048.4(ASL):c.348+1G>A	ASL	Single nucleotide variant (splice donor variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 1066380	NM_000048.4(ASL):c.349-1G>A	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 643476	NM_000048.4(ASL):c.376C>T (p.Arg126Trp)	ASL (R126W)	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 2191291	NM_000048.4(ASL):c.425_426insAGCTCCCAGCT (p.Met143fs)	ASL (M143fs)	Insertion (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 2581413	NM_000048.4(ASL):c.434A>G (p.Asp145Gly)	ASL (D145G)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 203626	NM_000048.4(ASL):c.436C>T (p.Arg146Trp)	ASL (R146W)	Single nucleotide variant (missense variant)	ASL-related condition +1 more	GPathogenic
Select item 203627	NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	ASL (R146Q)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GConflicting classifications of pathogenicity
Select item 92361	NM_000048.4(ASL):c.446+1G>A	ASL	Single nucleotide variant (splice donor variant)	not provided +1 more	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 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 198384	NM_000048.4(ASL):c.467C>T (p.Pro156Leu)	ASL (P156L)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic
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 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 954795	NM_000048.4(ASL):c.551_552del (p.Asp183_Ser184insTer)	ASL	Microsatellite (nonsense +1 more)	Argininosuccinate lyase deficiency	GPathogenic
Select item 1050820	NM_000048.4(ASL):c.556C>T (p.Arg186Trp)	ASL (R186W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 933174	NM_000048.4(ASL):c.557G>A (p.Arg186Gln)	ASL (R186Q)	Single nucleotide variant (missense variant +1 more)	Argininosuccinate lyase deficiency	GPathogenic
Select item 2678717	NM_000048.4(ASL):c.569_573dup (p.Lys192fs)	ASL (K192fs)	Duplication (frameshift variant +1 more)	Argininosuccinate lyase deficiency	GLikely 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 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 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 1028027	NM_000048.4(ASL):c.602+1G>T	ASL	Single nucleotide variant (splice donor variant +1 more)	Argininosuccinate lyase deficiency	GPathogenic
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 2678722	NM_000048.4(ASL):c.603-2A>G	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 654040	NM_000048.4(ASL):c.603-1G>C	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 203614	NM_000048.4(ASL):c.614C>T (p.Ala205Val)	ASL (A205V +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 2678624	NM_000048.4(ASL):c.617G>T (p.Gly206Val)	ASL (G180V +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 2678709	NM_000048.4(ASL):c.629del (p.Gly210fs)	ASL (G184fs +1 more)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely 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)	Argininosuccinate lyase deficiency +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)	not provided +1 more	GPathogenic
Select item 2678643	NM_000048.4(ASL):c.656-1G>A	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 941054	NM_000048.4(ASL):c.706C>T (p.Arg236Trp)	ASL (R236W +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic
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 2678738	NM_000048.4(ASL):c.721G>A (p.Glu241Lys)	ASL (E215K +1 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
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 573845	NM_000048.4(ASL):c.765dup (p.Met256fs)	ASL (M230fs +1 more)	Duplication (frameshift variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 2678804	NM_000048.4(ASL):c.803del (p.Phe268fs)	ASL (F242fs +1 more)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2678793	NM_000048.4(ASL):c.834-1G>A	ASL	Single nucleotide variant (splice acceptor variant)	Argininosuccinate lyase deficiency	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 2678645	NM_000048.4(ASL):c.870del (p.Asp291fs)	ASL (D265fs +1 more)	Deletion (frameshift variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2503913	NM_000048.4(ASL):c.925G>A (p.Gly309Arg)	ASL (G309R +1 more)	Single nucleotide variant (missense variant +1 more)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2419412	NM_000048.4(ASL):c.974T>G (p.Leu325Ter)	ASL (L299* +1 more)	Single nucleotide variant (nonsense +1 more)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 426324	NM_000048.4(ASL):c.978G>C (p.Gln326His)	ASL (Q326H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 529426	NM_000048.4(ASL):c.1045_1062+7del	ASL	Deletion (splice donor variant)	Argininosuccinate lyase deficiency	GPathogenic
Select item 2678654	NM_000048.4(ASL):c.1062+5G>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 1432406	NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)	ASL (Y350* +2 more)	Single nucleotide variant (nonsense)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 2403	NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	ASL (R379C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2678706	NM_000048.4(ASL):c.1143+1G>C	ASL	Single nucleotide variant (splice donor variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2678691	NM_000048.4(ASL):c.1143+1G>T	ASL	Single nucleotide variant (splice donor variant)	Argininosuccinate lyase deficiency	GPathogenic
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 1383503	NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)	ASL (A398D +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GPathogenic/Likely pathogenic
Select item 555167	NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)	ASL (L419fs +2 more)	Deletion (frameshift variant)	not provided +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)	Argininosuccinate lyase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2678634	NM_000048.4(ASL):c.1331C>T (p.Ala444Val)	ASL (A418V +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency	GLikely pathogenic
Select item 2446277	NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)	ASL (S421N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 660049	NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)	ASL (R436W +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic
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: 86