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

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360563	NM_000048.4(ASL):c.-44+9G>A	ASL, LOC129998525	Single nucleotide variant (5 prime UTR variant +1 more)	Argininosuccinate lyase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 383905	NM_000048.4(ASL):c.-44+10C>T	ASL, LOC129998525	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 360564	NM_000048.4(ASL):c.-31G>A	ASL	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1177030	NM_000048.4(ASL):c.12+105C>T	ASL, LOC129998526	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 680525	NM_000048.4(ASL):c.12+227C>G	ASL, LOC129998526	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193577	NM_000048.4(ASL):c.13-209del	ASL	Deletion (intron variant)	not provided	GLikely benign
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 515755	NM_000048.4(ASL):c.159G>A (p.Gly53=)	ASL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 383016	NM_000048.4(ASL):c.162C>T (p.Leu54=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency +2 more	GBenign/Likely benign
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 388261	NM_000048.4(ASL):c.183C>T (p.Asp61=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency +1 more	GBenign/Likely benign
Select item 1215021	NM_000048.4(ASL):c.208-127C>T	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209049	NM_000048.4(ASL):c.208-72G>T	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 382402	NM_000048.4(ASL):c.291+7C>G	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency +1 more	GLikely benign
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 389364	NM_000048.4(ASL):c.309G>A (p.Thr103=)	ASL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 643476	NM_000048.4(ASL):c.376C>T (p.Arg126Trp)	ASL (R126W)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 203625	NM_000048.4(ASL):c.392C>T (p.Thr131Met)	ASL (T131M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 389723	NM_000048.4(ASL):c.399G>A (p.Ser133=)	ASL	Single nucleotide variant (synonymous variant)	not specified +1 more	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 1280908	NM_000048.4(ASL):c.447-188G>A	ASL	Single nucleotide variant (intron variant)	not provided	GBenign
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 1303073	NM_000048.4(ASL):c.496C>T (p.Pro166Ser)	ASL (P166S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 387141	NM_000048.4(ASL):c.524+12G>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency +1 more	GLikely benign
Select item 203628	NM_000048.4(ASL):c.533_557dup (p.Arg186_Leu187insGlyThrAspProArgLeuTer)	ASL	Duplication (nonsense +2 more)	not provided +1 more	GPathogenic
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 372746	NM_000048.4(ASL):c.539T>G (p.Leu180Arg)	ASL (L180R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 136422	NM_000048.4(ASL):c.556C>A (p.Arg186=)	ASL	Single nucleotide variant (synonymous variant +1 more)	Argininosuccinate lyase deficiency +2 more	GBenign/Likely benign
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 92363	NM_000048.4(ASL):c.576G>A (p.Lys192=)	ASL	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 92364	NM_000048.4(ASL):c.602+13C>T	ASL	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1194684	NM_000048.4(ASL):c.602+41G>C	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219523	NM_000048.4(ASL):c.602+42C>A	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 676097	NM_000048.4(ASL):c.602+123T>C	ASL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276284	NM_000048.4(ASL):c.603-244G>A	ASL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271303	NM_000048.4(ASL):c.603-90GT[21]	ASL	Microsatellite (intron variant)	not provided	GBenign
Select item 1194121	NM_000048.4(ASL):c.603-90GT[22]	ASL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1264549	NM_000048.4(ASL):c.603-90GT[16]	ASL	Microsatellite (intron variant)	not provided	GBenign
Select item 1245624	NM_000048.4(ASL):c.603-90GT[19]	ASL	Microsatellite (intron variant)	not provided	GBenign
Select item 1219323	NM_000048.4(ASL):c.603-90GT[17]	ASL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1178366	NM_000048.4(ASL):c.603-90GT[18]	ASL	Microsatellite (intron variant)	not provided	GBenign
Select item 1203676	NM_000048.4(ASL):c.603-39G>T	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215867	NM_000048.4(ASL):c.603-22C>T	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1177031	NM_000048.4(ASL):c.655+124A>G	ASL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 675236	NM_000048.4(ASL):c.656-102T>C	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency +1 more	GBenign
Select item 386050	NM_000048.4(ASL):c.656-14T>A	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency +1 more	GLikely benign
Select item 360566	NM_000048.4(ASL):c.656-5C>A	ASL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
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 390561	NM_000048.4(ASL):c.718+3G>A	ASL	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 254742	NM_000048.4(ASL):c.718+14A>T	ASL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1191661	NM_000048.4(ASL):c.718+101G>A	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226617	NM_000048.4(ASL):c.718+303G>A	ASL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181817	NM_000048.4(ASL):c.719-272A>G	ASL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 459922	NM_000048.4(ASL):c.740C>T (p.Ser247Leu)	ASL (S247L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1327309	NM_000048.4(ASL):c.758T>C (p.Leu253Pro)	ASL (L227P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193915	NM_000048.4(ASL):c.811G>T (p.Val271Leu)	ASL (V271L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 388726	NM_000048.4(ASL):c.833+4A>G	ASL	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 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 388245	NM_000048.4(ASL):c.927G>T (p.Gly309=)	ASL	Single nucleotide variant (synonymous variant +1 more)	Argininosuccinate lyase deficiency +1 more	GBenign/Likely benign
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 418020	NM_000048.4(ASL):c.978+15dup	ASL	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 421941	NM_000048.4(ASL):c.978+15_978+17delinsAA	ASL	Indel (intron variant)	not specified	GLikely benign
Select item 1192455	NM_000048.4(ASL):c.978+30C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency +1 more	GBenign
Select item 496825	NM_000048.4(ASL):c.978+46G>T	ASL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1198210	NM_000048.4(ASL):c.978+47C>T	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192456	NM_000048.4(ASL):c.978+63C>T	ASL	Single nucleotide variant (intron variant)	Argininosuccinate lyase deficiency +1 more	GBenign
Select item 1326842	NM_000048.4(ASL):c.979-34G>A	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1305757	NM_000048.4(ASL):c.998T>C (p.Phe333Ser)	ASL (F307S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 380181	NM_000048.4(ASL):c.1062+16C>G	ASL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1177032	NM_000048.4(ASL):c.1063-57G>C	ASL	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1261075	NM_000048.4(ASL):c.1063-21C>T	ASL	Single nucleotide variant (intron variant)	not provided	GBenign
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 432076	NM_000048.4(ASL):c.1141G>C (p.Gly381Arg)	ASL (G381R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 383619	NM_000048.4(ASL):c.1143+13C>A	ASL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1189121	NM_000048.4(ASL):c.1144-96G>A	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225572	NM_000048.4(ASL):c.1144-80del	ASL	Deletion (intron variant)	not provided	GBenign
Select item 1189116	NM_000048.4(ASL):c.1144-35C>A	ASL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92358	NM_000048.4(ASL):c.1164C>T (p.His388=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency +2 more	GBenign/Likely benign
Select item 1704749	NM_000048.4(ASL):c.1175G>A (p.Gly392Glu)	ASL (G366E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 512987	NM_000048.4(ASL):c.1194C>T (p.Ala398=)	ASL	Single nucleotide variant (synonymous variant)	Argininosuccinate lyase deficiency +1 more	GLikely benign
Select item 1251711	NM_000048.4(ASL):c.1251-47G>A	ASL	Single nucleotide variant (intron variant)	not provided	GBenign
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 507133	NM_000048.4(ASL):c.1293G>A (p.Gly431=)	ASL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2446277	NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)	ASL (S421N +2 more)	Single nucleotide variant (missense variant)	Argininosuccinate lyase deficiency +1 more	GLikely pathogenic
Select item 1198047	NM_000048.4(ASL):c.*36G>A	ASL	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 360572	NM_000048.4(ASL):c.*265C>T	ASL	Single nucleotide variant (3 prime UTR variant)	Argininosuccinate lyase deficiency +1 more	GBenign
Select item 360573	NM_000048.4(ASL):c.*268G>C	ASL	Single nucleotide variant (3 prime UTR variant)	Argininosuccinate lyase deficiency +1 more	GBenign
Select item 360574	NM_000048.4(ASL):c.*287C>T	ASL	Single nucleotide variant (3 prime UTR variant)	Argininosuccinate lyase deficiency +1 more	GBenign
Select item 360575	NM_000048.4(ASL):c.*323G>A	ASL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign

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Items: 99