Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)	SNV Germline	Chr7:66082443	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA252262	rs_28940585	6 SubmittersRCV000002499
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)	SNV Germline	Chr7:66089114	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA252263	rs_28941472	15 SubmittersRCV000002500 RCV000078017
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)	SNV Germline	Chr7:66092566	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA339980	rs_28940286	11 SubmittersRCV000002502
NM_000048.4(ASL):c.532G>A (p.Val178Met)	SNV Germline	Chr7:66086751	Pathogenic	Argininosuccinate lyase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA252264	rs_28941473	17 SubmittersRCV000002503 RCV000723377 RCV004965257
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)	SNV Germline	Chr7:66092078	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided ASL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA252265	rs_28940287	11 SubmittersRCV000002504 RCV000185769 RCV004754236
NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)	SNV Germline	Chr7:66089693	Pathogenic	Argininosuccinate lyase deficiency Condition: not provided ASL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA285295	rs_367543005	12 SubmittersRCV000020415 RCV000078007 RCV003914857
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)	SNV Germline	Chr7:66082440	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA220290	rs_374304304	9 SubmittersRCV000178026 RCV000790828
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)	SNV Germline	Chr7:66081825	Pathogenic/Likely pathogenic	Condition: not provided Argininosuccinate lyase deficiency Inborn genetic diseases ASL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA277117	rs_145138923	27 SubmittersRCV000078010 RCV000193312 RCV002514370 RCV003415843
NM_000048.4(ASL):c.446+1G>A	SNV Germline	Chr7:66083175	Pathogenic	Condition: not provided Argininosuccinate lyase deficiency Malignant tumor of urinary bladder Acute myeloid leukemia Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA285298	rs_142637046	17 SubmittersRCV000078011 RCV000409952 RCV005886136 RCV005886135 RCV005886134
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)	SNV Germline	Chr7:66086763	Pathogenic	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA220291	rs_398123126	11 SubmittersRCV000078012 RCV000194332
NM_000048.4(ASL):c.602+1G>A	SNV Germline	Chr7:66086822	Pathogenic	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA220293	rs_398123127	6 SubmittersRCV000078015 RCV000672800
NM_000048.4(ASL):c.846C>G (p.Ser282Arg)	SNV Germline	Chr7:66089103	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA220294	rs_398123128	3 SubmittersRCV000078016 RCV004595914 RCV005712129
NM_000048.4(ASL):c.976C>A (p.Gln326Lys)	SNV Germline	Chr7:66089333	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA220296	rs_398123129	5 SubmittersRCV000078018 RCV001342759 RCV004586540
NM_000048.4(ASL):c.503G>A (p.Arg168His)	SNV Germline	Chr7:66086641	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA233484	rs_727503811	4 SubmittersRCV000152800 RCV000667843
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)	SNV Germline	Chr7:66092617	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA233485	rs_727503812	4 SubmittersRCV000152801 RCV001303415
NM_000048.4(ASL):c.837G>C (p.Thr279=)	SNV Germline	Chr7:66089094	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA239719	rs_543255240	2 SubmittersRCV000174210 RCV001432385
NM_000048.4(ASL):c.467C>T (p.Pro156Leu)	SNV Germline	Chr7:66086605	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA247010	rs_769017508	4 SubmittersRCV000179702 RCV001239790
NM_000048.4(ASL):c.502C>T (p.Arg168Cys)	SNV Germline	Chr7:66086640	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency Autism not specified	Criteria Provided Conflicting Classifications	CA247012	rs_766832061	4 SubmittersRCV000179703 RCV003987425 RCV004698476 RCV005892039
NM_000048.4(ASL):c.291+1G>T	SNV Germline	Chr7:66082452	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312342	rs_201523601	3 SubmittersRCV000411012
NM_000048.4(ASL):c.436C>T (p.Arg146Trp)	SNV Germline	Chr7:66083164	Pathogenic	Argininosuccinate lyase deficiency ASL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA312345	rs_199938613	6 SubmittersRCV001047877 RCV003422083
NM_000048.4(ASL):c.437G>A (p.Arg146Gln)	SNV Germline	Chr7:66083165	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA312346	rs_796051931	5 SubmittersRCV000673353
NM_000048.4(ASL):c.507G>C (p.Trp169Cys)	SNV Germline	Chr7:66086645	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA312321	rs_759952363	5 SubmittersRCV000674567
NM_000048.4(ASL):c.545G>A (p.Arg182Gln)	SNV Germline	Chr7:66086764	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312323	rs_751590073	9 SubmittersRCV000454306
NM_000048.4(ASL):c.614C>T (p.Ala205Val)	SNV Germline	Chr7:66087345	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA312324	rs_796051925	3 SubmittersRCV000634853 RCV004767126
NM_000048.4(ASL):c.649C>T (p.Arg217Ter)	SNV Germline	Chr7:66087380	Pathogenic	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312325	rs_369879957	8 SubmittersRCV000185765 RCV000668606
NM_000048.4(ASL):c.688A>G (p.Met230Val)	SNV Germline	Chr7:66087761	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312327	rs_143957662	3 SubmittersRCV001998138
NM_000048.4(ASL):c.925G>A (p.Gly309Arg)	SNV Germline	Chr7:66089282	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312329	rs_769506424	2 SubmittersRCV003230904
NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)	SNV Germline	Chr7:66092606	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312333	rs_770167670	4 SubmittersRCV001892645
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)	SNV Germline	Chr7:66092814	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA312337	rs_1554328459	3 SubmittersRCV000669888
NM_000048.4(ASL):c.175G>A (p.Glu59Lys)	SNV Germline	Chr7:66081965	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357215	rs_869312985	6 SubmittersRCV000210603 RCV000489282
NM_000048.4(ASL):c.257A>C (p.Glu86Ala)	SNV Germline	Chr7:66082417	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA357221	rs_869312986	1 SubmittersRCV000210647
NM_000048.4(ASL):c.461T>C (p.Leu154Pro)	SNV Germline	Chr7:66086599	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA357213	rs_869312988	1 SubmittersRCV000210597
NM_000048.4(ASL):c.718+5G>A	SNV Germline	Chr7:66087796	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA357229	rs_869312990	3 SubmittersRCV000210713
NM_000048.4(ASL):c.762C>A (p.Ser254Arg)	SNV Germline	Chr7:66088850	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA357217	rs_869312991	2 SubmittersRCV000210606
NM_000048.4(ASL):c.889C>T (p.Arg297Trp)	SNV Germline	Chr7:66089146	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA357226	rs_869312992	3 SubmittersRCV000210677 RCV004586629
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)	SNV Germline	Chr7:66092877	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA357219	rs_869312994	2 SubmittersRCV000210614
NM_000048.4(ASL):c.524+2T>G	SNV Germline	Chr7:66086664	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA357212	rs_869312976	8 SubmittersRCV000210554
NM_000048.4(ASL):c.1079T>C (p.Met360Thr)	SNV Germline	Chr7:66092022	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA10576340	rs_875989948	3 SubmittersRCV000211672
NM_000048.4(ASL):c.332G>A (p.Arg111Gln)	SNV Germline	Chr7:66082920	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4276905	rs_561367199	10 SubmittersRCV000493464 RCV000668710
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)	SNV Germline	Chr7:66092067	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified Congenital portosystemic shunt	Criteria Provided Conflicting Classifications	CA10624173	rs_886062406	6 SubmittersRCV000274099 RCV003230485 RCV006634303
NM_000048.4(ASL):c.-44+9G>A	SNV Germline	Chr7:66075865	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA10626304	rs_558890925	2 SubmittersRCV000300896 RCV000602830
NM_000048.4(ASL):c.-31G>A	SNV Germline	Chr7:66076051	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA4276783	rs_766867890	2 SubmittersRCV000339407 RCV000444828
NM_000048.4(ASL):c.1270G>A (p.Val424Met)	SNV Germline	Chr7:66092787	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA4277372	rs_368264870	4 SubmittersRCV000277140 RCV005869393
NM_000048.4(ASL):c.578G>A (p.Arg193Gln)	SNV Germline	Chr7:66086797	Pathogenic/Likely pathogenic	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277009	rs_373697663	8 SubmittersRCV000413440 RCV000609637
NM_000048.4(ASL):c.833+4A>G	SNV Germline	Chr7:66088925	Conflicting classifications of pathogenicity	not specified Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277133	rs_375854730	2 SubmittersRCV000444409 RCV002522465
NM_000048.4(ASL):c.399G>A (p.Ser133=)	SNV Germline	Chr7:66083127	Conflicting classifications of pathogenicity	not specified Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4276943	rs_141584041	3 SubmittersRCV000430810 RCV000872948
NM_000048.4(ASL):c.718+3G>A	SNV Germline	Chr7:66087794	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277105	rs_368266194	2 SubmittersRCV001696764 RCV002522584
NM_000048.4(ASL):c.637C>T (p.Arg213Ter)	SNV Germline	Chr7:66087368	Pathogenic	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277059	rs_761651320	10 SubmittersRCV000489563 RCV000588753
NM_000048.4(ASL):c.839G>A (p.Gly280Glu)	SNV Germline	Chr7:66089096	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA367645418	rs_1085307952	3 SubmittersRCV000489046 RCV000669138
NM_000048.4(ASL):c.978G>C (p.Gln326His)	SNV Germline	Chr7:66089335	Pathogenic/Likely pathogenic	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277213	rs_764356037	7 SubmittersRCV000489610 RCV001836830
NM_000048.4(ASL):c.571C>T (p.Arg191Trp)	SNV Germline	Chr7:66086790	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277007	rs_143508372	9 SubmittersRCV000514327 RCV001805129
NM_000048.4(ASL):c.675C>G (p.Ile225Met)	SNV Germline	Chr7:66087748	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367644483	rs_1554327265	2 SubmittersRCV000539996
NM_000048.4(ASL):c.740C>T (p.Ser247Leu)	SNV Germline	Chr7:66088828	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA367645136	rs_1405344068	4 SubmittersRCV000554882 RCV001562220 RCV005722148
NM_000048.4(ASL):c.299T>C (p.Ile100Thr)	SNV Germline	Chr7:66082887	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4276893	rs_202142867	6 SubmittersRCV000587929 RCV001576060
NM_000048.4(ASL):c.242T>C (p.Leu81Pro)	SNV Germline	Chr7:66082402	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA4276860	rs_141046612	4 SubmittersRCV000634856 RCV004707386 RCV004702223
NM_000048.4(ASL):c.722A>C (p.Glu241Ala)	SNV Germline	Chr7:66088810	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA159933464	rs_924321091	4 SubmittersRCV000634854 RCV004702222
NM_000048.4(ASL):c.91G>A (p.Asp31Asn)	SNV Germline	Chr7:66081881	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4276827	rs_754995756	6 SubmittersRCV000665993
NM_000048.4(ASL):c.260A>G (p.Asp87Gly)	SNV Germline	Chr7:66082420	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4276864	rs_752100894	4 SubmittersRCV000673369
NM_000048.4(ASL):c.281G>A (p.Arg94His)	SNV Germline	Chr7:66082441	Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA159926331	rs_777437569	3 SubmittersRCV000665518 RCV001756123
NM_000048.4(ASL):c.337C>T (p.Arg113Trp)	SNV Germline	Chr7:66082925	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4276906	rs_767543051	7 SubmittersRCV000668492
NM_000048.4(ASL):c.446+2T>C	SNV Germline	Chr7:66083176	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367639582	rs_1268519003	3 SubmittersRCV000669012
NM_000048.4(ASL):c.638G>A (p.Arg213Gln)	SNV Germline	Chr7:66087369	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA367642974	rs_1449589636	6 SubmittersRCV000674987 RCV002466559
NM_000048.4(ASL):c.772G>A (p.Glu258Lys)	SNV Germline	Chr7:66088860	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA159933546	rs_909358635	3 SubmittersRCV000670293
NM_000048.4(ASL):c.1154G>A (p.Arg385His)	SNV Germline	Chr7:66092567	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277330	rs_746120802	6 SubmittersRCV000667516
NM_000048.4(ASL):c.377G>A (p.Arg126Gln)	SNV Germline	Chr7:66083105	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4276936	rs_777235530	5 SubmittersRCV000672435
NM_000048.4(ASL):c.577C>T (p.Arg193Trp)	SNV Germline	Chr7:66086796	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367642681	rs_1428029508	4 SubmittersRCV000668596
NM_000048.4(ASL):c.890G>A (p.Arg297Gln)	SNV Germline	Chr7:66089147	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277165	rs_750431938	3 SubmittersRCV000669909
NM_000048.4(ASL):c.338G>A (p.Arg113Gln)	SNV Germline	Chr7:66082926	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4276907	rs_752783461	5 SubmittersRCV000670964
NM_000048.4(ASL):c.447-1G>A	SNV Germline	Chr7:66086584	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided Sarcoma	Criteria Provided Multiple Submitters No Conflicts	CA4276970	rs_778254333	8 SubmittersRCV000668088 RCV001584537 RCV005901458
NM_000048.4(ASL):c.707G>A (p.Arg236Gln)	SNV Germline	Chr7:66087780	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4277101	rs_764602422	10 SubmittersRCV000671416 RCV002260659
NM_000048.4(ASL):c.735G>A (p.Trp245Ter)	SNV Germline	Chr7:66088823	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367645124	rs_1554327573	3 SubmittersRCV000667947
NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)	SNV Germline	Chr7:66092828	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367653288	rs_932494060	2 SubmittersRCV000672953
NM_000048.4(ASL):c.13-1G>C	SNV Germline	Chr7:66081802	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367637482	rs_1554326239	2 SubmittersRCV000668958
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)	SNV Unknown	Chr7:66081923	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA4276833	rs_771012029	2 SubmittersRCV000666421
NM_000048.4(ASL):c.284G>A (p.Arg95His)	SNV Germline	Chr7:66082444	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4276865	rs_150244667	5 SubmittersRCV000674562
NM_000048.4(ASL):c.292G>T (p.Glu98Ter)	SNV Germline	Chr7:66082880	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA4276891	rs_770375565	2 SubmittersRCV000668876
NM_000048.4(ASL):c.566A>G (p.Glu189Gly)	SNV Germline	Chr7:66086785	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277006	rs_756363516	5 SubmittersRCV000671347
NM_000048.4(ASL):c.918+5G>A	SNV Germline	Chr7:66089180	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA4277171	rs_781331391	2 SubmittersRCV000669803
NM_000048.4(ASL):c.1062+1G>T	SNV Unknown	Chr7:66089696	Likely pathogenic	Argininosuccinate lyase deficiency	No Assertion Criteria Provided	CA367647569	rs_1554327825	1 SubmittersRCV000674647
NM_000048.4(ASL):c.1300G>T (p.Val434Leu)	SNV Germline	Chr7:66092817	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA4277381	rs_773071023	4 SubmittersRCV000674177 RCV002531346
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)	SNV Germline	Chr7:66092884	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277403	rs_767271619	6 SubmittersRCV000666207
NM_000048.4(ASL):c.122G>A (p.Gly41Asp)	SNV Germline	Chr7:66081912	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367638152	rs_1562737230	1 SubmittersRCV000700063
NM_000048.4(ASL):c.376C>T (p.Arg126Trp)	SNV Germline	Chr7:66083104	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA159927114	rs_201962738	5 SubmittersRCV000797180 RCV001759511
NM_000048.4(ASL):c.401G>A (p.Gly134Asp)	SNV Germline	Chr7:66083129	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4276944	rs_201352504	2 SubmittersRCV000796865
NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)	SNV Germline	Chr7:66092883	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency ASL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA4277402	rs_759396688	5 SubmittersRCV000817170 RCV003411805
NM_000048.4(ASL):c.603-1G>C	SNV Germline	Chr7:66087333	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367642828	rs_1584028936	3 SubmittersRCV000809927
NM_000048.4(ASL):c.571C>G (p.Arg191Gly)	SNV Germline	Chr7:66086790	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA367642653	rs_143508372	4 SubmittersRCV000853343 RCV005906938
NM_000048.4(ASL):c.99C>G (p.His33Gln)	SNV Germline	Chr7:66081889	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency ASL-related disorder	Criteria Provided Conflicting Classifications	CA4276829	rs_142077823	4 SubmittersRCV000894441 RCV003910651
NM_000048.4(ASL):c.1056G>A (p.Thr352=)	SNV Germline	Chr7:66089689	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277262	rs_745476328	3 SubmittersRCV000885329
NM_000048.4(ASL):c.1263G>A (p.Ser421=)	SNV Germline	Chr7:66092780	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency Familial cancer of breast	Criteria Provided Conflicting Classifications	CA4277369	rs_542163407	3 SubmittersRCV000895197 RCV005906315
NM_000048.4(ASL):c.75C>T (p.Asn25=)	SNV Germline	Chr7:66081865	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA4276819	rs_370260834	4 SubmittersRCV000924242 RCV005268813
NM_000048.4(ASL):c.243G>C (p.Leu81=)	SNV Germline	Chr7:66082403	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4276861	rs_774204716	4 SubmittersRCV001159590
NM_000048.4(ASL):c.1342G>A (p.Val448Ile)	SNV Germline	Chr7:66092859	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277393	rs_139410488	2 SubmittersRCV001033969
NM_000048.4(ASL):c.62T>C (p.Met21Thr)	SNV Germline	Chr7:66081852	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA4276817	rs_774392615	3 SubmittersRCV001042384 RCV003230623
NM_000048.4(ASL):c.446C>T (p.Ala149Val)	SNV Germline	Chr7:66083174	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4276951	rs_777288665	2 SubmittersRCV001068111
NM_000048.4(ASL):c.655G>C (p.Glu219Gln)	SNV Germline	Chr7:66087386	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA159931699	rs_944576125	2 SubmittersRCV001044835
NM_000048.4(ASL):c.1349G>A (p.Trp450Ter)	SNV Germline	Chr7:66092866	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367653509	rs_1786894242	1 SubmittersRCV001071721
NM_000048.4(ASL):c.919-1G>A	SNV Germline	Chr7:66089275	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367646067	rs_1786770612	1 SubmittersRCV001044324
NM_000048.4(ASL):c.474C>T (p.Tyr158=)	SNV Germline	Chr7:66086612	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA455450351	rs_1361999742	2 SubmittersRCV001160970
NM_000048.4(ASL):c.486G>A (p.Gln162=)	SNV Germline	Chr7:66086624	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA455450358	rs_1786669549	2 SubmittersRCV001160971
NM_000048.4(ASL):c.720C>T (p.Ala240=)	SNV Germline	Chr7:66088808	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277119	rs_764072757	2 SubmittersRCV001162563
NM_000048.4(ASL):c.1230G>C (p.Leu410=)	SNV Germline	Chr7:66092643	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA455451905	rs_1397223617	2 SubmittersRCV001162566
NM_000048.4(ASL):c.1395G>A (p.Ter465=)	SNV Germline	Chr7:66092912	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA455453163	rs_1339615185	2 SubmittersRCV001164614
NM_000048.4(ASL):c.557G>A (p.Arg186Gln)	SNV Germline	Chr7:66086776	Pathogenic	Argininosuccinate lyase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA4277005	rs_752397242	7 SubmittersRCV001201220 RCV004570416 RCV004960521
NM_000048.4(ASL):c.706C>T (p.Arg236Trp)	SNV Germline	Chr7:66087779	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277100	rs_761268464	5 SubmittersRCV001210762
NM_000048.4(ASL):c.719-1G>C	SNV Germline	Chr7:66088806	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367645072	rs_369828060	1 SubmittersRCV001210624
NM_000048.4(ASL):c.1136G>A (p.Arg379His)	SNV Germline	Chr7:66092079	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA4277304	rs_200853731	4 SubmittersRCV001239019 RCV004768962 RCV005250162
NM_000048.4(ASL):c.256G>T (p.Glu86Ter)	SNV Unknown	Chr7:66082416	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367638955	rs_1786532924	1 SubmittersRCV001264310
NM_000048.4(ASL):c.371G>A (p.Trp124Ter)	SNV Germline	Chr7:66083099	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367639312	rs_1786558070	2 SubmittersRCV001264311
NM_000048.4(ASL):c.372G>A (p.Trp124Ter)	SNV Unknown	Chr7:66083100	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639315	rs_1786558148	1 SubmittersRCV001264312
NM_000048.4(ASL):c.379C>T (p.Gln127Ter)	SNV Unknown	Chr7:66083107	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639332	rs_1786558577	1 SubmittersRCV001264313
NM_000048.4(ASL):c.721G>T (p.Glu241Ter)	SNV Unknown	Chr7:66088809	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367645092	rs_1786746301	1 SubmittersRCV001264314
NM_000048.4(ASL):c.814C>T (p.Gln272Ter)	SNV Unknown	Chr7:66088902	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367645301	rs_1786750679	1 SubmittersRCV001264315
NM_000048.4(ASL):c.602+1G>T	SNV Germline	Chr7:66086822	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367642786	rs_398123127	2 SubmittersRCV001328964
NM_000048.4(ASL):c.1080G>C (p.Met360Ile)	SNV Germline	Chr7:66092023	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367650129	rs_1786857910	2 SubmittersRCV001344336
NM_000048.4(ASL):c.556C>T (p.Arg186Trp)	SNV Germline	Chr7:66086775	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4277004	rs_111407265	8 SubmittersRCV001358697 RCV001820057
NM_000048.4(ASL):c.349-1G>A	SNV Germline	Chr7:66083076	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367639266	rs_1395478201	3 SubmittersRCV001377366
NM_000048.4(ASL):c.221G>A (p.Trp74Ter)	SNV Germline	Chr7:66082381	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367638784	rs_2115694416	1 SubmittersRCV001388903
NM_000048.4(ASL):c.1095C>T (p.Ser365=)	SNV Germline	Chr7:66092038	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277292	rs_749559501	2 SubmittersRCV001559203
NM_000048.4(ASL):c.1143+2T>G	SNV Unknown	Chr7:66092088	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367650684	rs_2115760718	1 SubmittersRCV001795615
NM_000048.4(ASL):c.1267G>A (p.Asp423Asn)	SNV Germline	Chr7:66092784	Conflicting classifications of pathogenicity	not specified Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277371	rs_778321544	2 SubmittersRCV001844500 RCV005038353
NM_000048.4(ASL):c.34C>T (p.Arg12Trp)	SNV Germline	Chr7:66081824	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA159925570	rs_564735357	1 SubmittersRCV002024216
NM_000048.4(ASL):c.599G>T (p.Gly200Val)	SNV Germline	Chr7:66086818	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367642774	rs_2115726233	2 SubmittersRCV002034148
NM_000048.4(ASL):c.377G>C (p.Arg126Pro)	SNV Germline	Chr7:66083105	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639328	rs_777235530	1 SubmittersRCV001964192
NM_000048.4(ASL):c.1136G>T (p.Arg379Leu)	SNV Germline	Chr7:66092079	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367650617	rs_200853731	1 SubmittersRCV001998774
NM_000048.4(ASL):c.437G>C (p.Arg146Pro)	SNV Germline	Chr7:66083165	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367639537	rs_796051931	2 SubmittersRCV002045721
NM_000048.4(ASL):c.690G>A (p.Met230Ile)	SNV Germline	Chr7:66087763	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367644657	rs_2115733193	1 SubmittersRCV002042436
NM_000048.4(ASL):c.348+1G>T	SNV Germline	Chr7:66082937	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639256	rs_2115698756	1 SubmittersRCV002013281
NM_000048.4(ASL):c.1357C>T (p.Arg453Cys)	SNV Germline	Chr7:66092874	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA4277398	rs_144591360	2 SubmittersRCV001983162 RCV004699593
NM_000048.4(ASL):c.1204G>A (p.Gly402Arg)	SNV Germline	Chr7:66092617	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367651551	rs_727503812	1 SubmittersRCV002018824
NM_000048.4(ASL):c.1290C>A (p.Tyr430Ter)	SNV Germline	Chr7:66092807	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367652955	rs_780846396	1 SubmittersRCV001975016
NM_000048.4(ASL):c.719-1G>A	SNV Germline	Chr7:66088806	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA4277117	rs_369828060	1 SubmittersRCV001972780
NM_000048.4(ASL):c.1078A>G (p.Met360Val)	SNV Germline	Chr7:66092021	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA367650110	rs_2115760128	2 SubmittersRCV002039297 RCV006266909
NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)	SNV Germline	Chr7:66092071	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277299	rs_764546937	3 SubmittersRCV001959859
NM_000048.4(ASL):c.509G>A (p.Ser170Asn)	SNV Germline	Chr7:66086647	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367642114	rs_1180650883	3 SubmittersRCV001963084
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)	SNV Germline	Chr7:66082919	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA159926865	rs_138310841	4 SubmittersRCV001978315
NM_000048.4(ASL):c.1219C>T (p.Gln407Ter)	SNV Germline	Chr7:66092632	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367651750	rs_2115764913	1 SubmittersRCV001913957
NM_000048.4(ASL):c.454G>A (p.Asp152Asn)	SNV Germline	Chr7:66086592	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA4276973	rs_780023054	1 SubmittersRCV002001661
NM_000048.4(ASL):c.299T>A (p.Ile100Asn)	SNV Germline	Chr7:66082887	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4276894	rs_202142867	2 SubmittersRCV002248971
NM_000048.4(ASL):c.493C>T (p.Gln165Ter)	SNV Unknown	Chr7:66086631	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367642005	rs_2485008020	1 SubmittersRCV002306544
NM_000048.4(ASL):c.398C>A (p.Ser133Ter)	SNV Unknown	Chr7:66083126	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639369	rs_748203708	1 SubmittersRCV002308045
NM_000048.4(ASL):c.1154G>T (p.Arg385Leu)	SNV Germline	Chr7:66092567	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367651056	rs_746120802	1 SubmittersRCV003037232
NM_000048.4(ASL):c.1267G>C (p.Asp423His)	SNV Germline	Chr7:66092784	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367652567	rs_778321544	1 SubmittersRCV003060118
NM_000048.4(ASL):c.932T>C (p.Leu311Pro)	SNV Germline	Chr7:66089289	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367646183	rs_2485019558	1 SubmittersRCV003087594
NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)	SNV Germline	Chr7:66092078	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277303	rs_28940287	4 SubmittersRCV002624490
NM_000048.4(ASL):c.974T>G (p.Leu325Ter)	SNV Germline	Chr7:66089331	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277212	rs_756339957	2 SubmittersRCV003115297
NM_000048.4(ASL):c.691G>C (p.Asp231His)	SNV Germline	Chr7:66087764	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367644685	rs_1786713307	1 SubmittersRCV002597891
NM_000048.4(ASL):c.302G>A (p.Gly101Asp)	SNV Germline	Chr7:66082890	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA4276895	rs_775061205	1 SubmittersRCV002690401
NM_000048.4(ASL):c.467C>A (p.Pro156Gln)	SNV Germline	Chr7:66086605	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367641760	rs_769017508	1 SubmittersRCV002725527
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)	SNV Germline	Chr7:66092871	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA367653561	rs_1211112295	3 SubmittersRCV002806261 RCV004700830
NM_000048.4(ASL):c.723G>C (p.Glu241Asp)	SNV Germline	Chr7:66088811	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367645095	rs_1409068410	1 SubmittersRCV002828337
NM_000048.4(ASL):c.767T>C (p.Met256Thr)	SNV Germline	Chr7:66088855	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277127	rs_149057077	2 SubmittersRCV002943663
NM_000048.4(ASL):c.976C>T (p.Gln326Ter)	SNV Germline	Chr7:66089333	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367646704	rs_398123129	1 SubmittersRCV002996425
NM_000048.4(ASL):c.446+1G>C	SNV Germline	Chr7:66083175	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639575	rs_142637046	1 SubmittersRCV003036281
NM_000048.4(ASL):c.611T>C (p.Ile204Thr)	SNV Germline	Chr7:66087342	Conflicting classifications of pathogenicity	Inborn genetic diseases Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA4277053	rs_745502369	3 SubmittersRCV003001208 RCV003497967
NM_000048.4(ASL):c.978+1G>A	SNV Germline	Chr7:66089336	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA159934539	rs_569859973	2 SubmittersRCV003155643
NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)	SNV Germline	Chr7:66092857	Likely pathogenic	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA159942893	rs_373519615	2 SubmittersRCV003156631 RCV003475538
NM_000048.4(ASL):c.436C>G (p.Arg146Gly)	SNV Germline	Chr7:66083164	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639529	rs_199938613	1 SubmittersRCV003324325
NM_000048.4(ASL):c.434A>G (p.Asp145Gly)	SNV Germline	Chr7:66083162	Conflicting classifications of pathogenicity	not specified Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA367639521	rs_1348290958	2 SubmittersRCV003331818 RCV003475563
NM_000048.4(ASL):c.1138A>G (p.Lys380Glu)	SNV Germline	Chr7:66092081	Conflicting classifications of pathogenicity	Condition: not provided Argininosuccinate lyase deficiency	Criteria Provided Conflicting Classifications		rs_2485028603	3 SubmittersRCV004573125 RCV005254793
NM_000048.4(ASL):c.617G>T (p.Gly206Val)	SNV Germline	Chr7:66087348	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277056	rs_760559303	2 SubmittersRCV003472620
NM_000048.4(ASL):c.1331C>T (p.Ala444Val)	SNV Germline	Chr7:66092848	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA4277390	rs_749788626	2 SubmittersRCV003472630 RCV004701070
NM_000048.4(ASL):c.656-1G>A	SNV Germline	Chr7:66087728	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367644367	rs_2485013529	2 SubmittersRCV003472639
NM_000048.4(ASL):c.226C>T (p.Gln76Ter)	SNV Unknown	Chr7:66082386	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA4276856	rs_373966403	1 SubmittersRCV003472644
NM_000048.4(ASL):c.208-1G>T	SNV Unknown	Chr7:66082367	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367638694	rs_1487170309	1 SubmittersRCV003472645
NM_000048.4(ASL):c.1062+5G>C	SNV Germline	Chr7:66089700	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA4277264	rs_779486497	2 SubmittersRCV003472650
NM_000048.4(ASL):c.311C>T (p.Ala104Val)	SNV Germline	Chr7:66082899	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA367639185	rs_2484997376	3 SubmittersRCV003472661 RCV005062965
NM_000048.4(ASL):c.1143+1G>T	SNV Germline	Chr7:66092087	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367650667	rs_2485028634	2 SubmittersRCV003472682
NM_000048.4(ASL):c.1143+1G>C	SNV Unknown	Chr7:66092087	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367650668	rs_2485028634	1 SubmittersRCV003472697
NM_000048.4(ASL):c.603-2A>G	SNV Unknown	Chr7:66087332	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367642825	rs_2485011270	1 SubmittersRCV003472713
NM_000048.4(ASL):c.348+1G>A	SNV Germline	Chr7:66082937	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367639258	rs_2115698756	2 SubmittersRCV003472721
NM_000048.4(ASL):c.721G>A (p.Glu241Lys)	SNV Germline	Chr7:66088809	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367645087	rs_1786746301	2 SubmittersRCV003472729
NM_000048.4(ASL):c.106G>T (p.Glu36Ter)	SNV Unknown	Chr7:66081896	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367638072	rs_2484993575	1 SubmittersRCV003472758
NM_000048.4(ASL):c.834-1G>A	SNV Germline	Chr7:66089090	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367645384	rs_768722904	2 SubmittersRCV003472784
NM_000048.4(ASL):c.1143+1G>A	SNV Germline	Chr7:66092087	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367650669	rs_2485028634	1 SubmittersRCV003498239
NM_000048.4(ASL):c.711C>G (p.Asp237Glu)	SNV Germline	Chr7:66087784	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367644842	rs_2485013779	1 SubmittersRCV003498957
NM_000048.4(ASL):c.857A>C (p.Gln286Pro)	SNV Germline	Chr7:66089114	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367645505	rs_28941472	1 SubmittersRCV003499799
NM_000048.4(ASL):c.545G>C (p.Arg182Pro)	SNV Germline	Chr7:66086764	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367642480	rs_751590073	2 SubmittersRCV003497774
NM_000048.4(ASL):c.544C>G (p.Arg182Gly)	SNV Germline	Chr7:66086763	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA367642474	rs_398123126	3 SubmittersRCV003499942 RCV005407188
NM_000048.4(ASL):c.291+2T>C	SNV Germline	Chr7:66082453	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639133	rs_2484995844	1 SubmittersRCV003498767
NM_000048.4(ASL):c.616G>A (p.Gly206Ser)	SNV Germline	Chr7:66087347	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367642887	rs_2485011388	1 SubmittersRCV003498669
NM_000048.4(ASL):c.176A>T (p.Glu59Val)	SNV Germline	Chr7:66081966	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367638392	rs_2484994019	1 SubmittersRCV003499454
NM_000048.4(ASL):c.104G>A (p.Trp35Ter)	SNV Germline	Chr7:66081894	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367638057	rs_2484993553	2 SubmittersRCV003499488
NM_000048.4(ASL):c.1250+1G>A	SNV Germline	Chr7:66092664	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367652203	rs_2485031310	1 SubmittersRCV003603340
NM_000048.4(ASL):c.689T>C (p.Met230Thr)	SNV Germline	Chr7:66087762	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367644634	rs_2485013685	1 SubmittersRCV003603227
NM_000048.4(ASL):c.387C>A (p.Cys129Ter)	SNV Germline	Chr7:66083115	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639350	rs_2484998179	1 SubmittersRCV003603491
NM_000048.4(ASL):c.617G>A (p.Gly206Asp)	SNV Germline	Chr7:66087348	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367642890	rs_760559303	1 SubmittersRCV003604221
NM_000048.4(ASL):c.674T>C (p.Ile225Thr)	SNV Germline	Chr7:66087747	Conflicting classifications of pathogenicity	Argininosuccinate lyase deficiency not specified	Criteria Provided Conflicting Classifications	CA4277097	rs_774703196	2 SubmittersRCV003604104 RCV004701768
NM_000048.4(ASL):c.13-2A>G	SNV Germline	Chr7:66081801	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367637466	rs_2484993078	1 SubmittersRCV003604384
NM_000048.4(ASL):c.603-2A>C	SNV Germline	Chr7:66087332	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367642823	rs_2485011270	1 SubmittersRCV003604401
NM_000048.4(ASL):c.208-1G>A	SNV Germline	Chr7:66082367	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367638689	rs_1487170309	1 SubmittersRCV003604275
NM_000048.4(ASL):c.280C>A (p.Arg94Ser)	SNV Germline	Chr7:66082440	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367639075	rs_374304304	1 SubmittersRCV003604438
NM_000048.4(ASL):c.656-2A>C	SNV Germline	Chr7:66087727	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367644358	rs_2485013520	1 SubmittersRCV003604490
NM_000048.4(ASL):c.447-2A>G	SNV Germline	Chr7:66086583	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367641461	rs_2485007765	2 SubmittersRCV003604517
NM_000048.4(ASL):c.602+2T>C	SNV Germline	Chr7:66086823	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367642789	rs_1584028092	1 SubmittersRCV003604447
NM_000048.4(ASL):c.963C>A (p.Tyr321Ter)	SNV Germline	Chr7:66089320	Pathogenic/Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA367646532	rs_2485019700	2 SubmittersRCV003604618
NM_000048.4(ASL):c.718+1G>A	SNV Germline	Chr7:66087792	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367644945	rs_1786714587	1 SubmittersRCV003602641
NM_000048.4(ASL):c.638G>C (p.Arg213Pro)	SNV Germline	Chr7:66087369	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA367642976	rs_1449589636	1 SubmittersRCV003872708
NM_000048.4(ASL):c.343G>T (p.Asp115Tyr)	SNV Germline	Chr7:66082931	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter	CA4276908	rs_756692067	1 SubmittersRCV003881720
NM_000048.4(ASL):c.623C>G (p.Pro208Arg)	SNV Unknown	Chr7:66087354	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1263616535	1 SubmittersRCV004560456
NM_000048.4(ASL):c.778C>T (p.Leu260Phe)	SNV Unknown	Chr7:66088866	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_2485017452	1 SubmittersRCV004560460
NM_000048.4(ASL):c.525-1G>A	SNV Unknown	Chr7:66086743	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1786673966	1 SubmittersRCV004573580
NM_000048.4(ASL):c.206A>G (p.Lys69Arg)	SNV Unknown	Chr7:66081996	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_2484994153	1 SubmittersRCV004573592
NM_000048.4(ASL):c.656-2A>T	SNV Unknown	Chr7:66087727	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_2485013520	1 SubmittersRCV004573614
NM_000048.4(ASL):c.754C>T (p.His252Tyr)	SNV Germline	Chr7:66088842	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV004821111
NM_000048.4(ASL):c.175G>T (p.Glu59Ter)	SNV Germline	Chr7:66081965	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005047997
NM_000048.4(ASL):c.749T>A (p.Met250Lys)	SNV Germline	Chr7:66088837	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005035851
NM_000048.4(ASL):c.718+1G>C	SNV Germline	Chr7:66087792	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005078051
NM_000048.4(ASL):c.377G>T (p.Arg126Leu)	SNV Germline	Chr7:66083105	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005088349
NM_000048.4(ASL):c.454G>T (p.Asp152Tyr)	SNV Germline	Chr7:66086592	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005109860
NM_000048.4(ASL):c.524+1G>A	SNV Germline	Chr7:66086663	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005150052
NM_000048.4(ASL):c.328G>T (p.Gly110Ter)	SNV Germline	Chr7:66082916	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005200622
NM_000048.4(ASL):c.2T>C (p.Met1Thr)	SNV Germline	Chr7:66076083	Likely pathogenic	Argininosuccinate lyase deficiency	No Assertion Criteria Provided			1 SubmittersRCV005611704
NM_000048.4(ASL):c.898G>T (p.Ala300Ser)	SNV Germline	Chr7:66089155	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005622942
NM_000048.4(ASL):c.913G>C (p.Gly305Arg)	SNV Germline	Chr7:66089170	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV005622943
NM_000048.4(ASL):c.197G>A (p.Gly66Asp)	SNV Germline	Chr7:66081987	Pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006504006
NM_000048.4(ASL):c.63G>A (p.Met21Ile)	SNV Germline	Chr7:66081853	Likely pathogenic	Argininosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV006522007

NM_000048.4(ASL):c.283C>T (p.Arg95Cys)

SNV
Germline

Chr7:66082443

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA252262

rs_28940585

6 SubmittersRCV000002499

NM_000048.4(ASL):c.857A>G (p.Gln286Arg)

SNV
Germline

Chr7:66089114

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA252263

rs_28941472

15 SubmittersRCV000002500 RCV000078017

NM_000048.4(ASL):c.1153C>T (p.Arg385Cys)

SNV
Germline

Chr7:66092566

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA339980

rs_28940286

11 SubmittersRCV000002502

NM_000048.4(ASL):c.532G>A (p.Val178Met)

SNV
Germline

Chr7:66086751

Pathogenic

Argininosuccinate lyase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA252264

rs_28941473

17 SubmittersRCV000002503 RCV000723377 RCV004965257

NM_000048.4(ASL):c.1135C>T (p.Arg379Cys)

SNV
Germline

Chr7:66092078

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided
ASL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA252265

rs_28940287

11 SubmittersRCV000002504 RCV000185769 RCV004754236

NM_000048.4(ASL):c.1060C>T (p.Gln354Ter)

SNV
Germline

Chr7:66089693

Pathogenic

Argininosuccinate lyase deficiency
Condition: not provided
ASL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA285295

rs_367543005

12 SubmittersRCV000020415 RCV000078007 RCV003914857

NM_000048.4(ASL):c.280C>T (p.Arg94Cys)

SNV
Germline

Chr7:66082440

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA220290

rs_374304304

9 SubmittersRCV000178026 RCV000790828

NM_000048.4(ASL):c.35G>A (p.Arg12Gln)

SNV
Germline

Chr7:66081825

Pathogenic/Likely pathogenic

Condition: not provided
Argininosuccinate lyase deficiency
Inborn genetic diseases
ASL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA277117

rs_145138923

27 SubmittersRCV000078010 RCV000193312 RCV002514370 RCV003415843

NM_000048.4(ASL):c.446+1G>A

SNV
Germline

Chr7:66083175

Pathogenic

Condition: not provided
Argininosuccinate lyase deficiency
Malignant tumor of urinary bladder
Acute myeloid leukemia
Familial cancer of breast

Criteria Provided
Multiple Submitters
No Conflicts

CA285298

rs_142637046

17 SubmittersRCV000078011 RCV000409952 RCV005886136 RCV005886135 RCV005886134

NM_000048.4(ASL):c.544C>T (p.Arg182Ter)

SNV
Germline

Chr7:66086763

Pathogenic

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA220291

rs_398123126

11 SubmittersRCV000078012 RCV000194332

NM_000048.4(ASL):c.602+1G>A

SNV
Germline

Chr7:66086822

Pathogenic

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA220293

rs_398123127

6 SubmittersRCV000078015 RCV000672800

NM_000048.4(ASL):c.846C>G (p.Ser282Arg)

SNV
Germline

Chr7:66089103

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA220294

rs_398123128

3 SubmittersRCV000078016 RCV004595914 RCV005712129

NM_000048.4(ASL):c.976C>A (p.Gln326Lys)

SNV
Germline

Chr7:66089333

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA220296

rs_398123129

5 SubmittersRCV000078018 RCV001342759 RCV004586540

NM_000048.4(ASL):c.503G>A (p.Arg168His)

SNV
Germline

Chr7:66086641

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA233484

rs_727503811

4 SubmittersRCV000152800 RCV000667843

NM_000048.4(ASL):c.1204G>T (p.Gly402Trp)

SNV
Germline

Chr7:66092617

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA233485

rs_727503812

4 SubmittersRCV000152801 RCV001303415

NM_000048.4(ASL):c.837G>C (p.Thr279=)

SNV
Germline

Chr7:66089094

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA239719

rs_543255240

2 SubmittersRCV000174210 RCV001432385

NM_000048.4(ASL):c.467C>T (p.Pro156Leu)

SNV
Germline

Chr7:66086605

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA247010

rs_769017508

4 SubmittersRCV000179702 RCV001239790

NM_000048.4(ASL):c.502C>T (p.Arg168Cys)

SNV
Germline

Chr7:66086640

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency
Autism
not specified

Criteria Provided
Conflicting Classifications

CA247012

rs_766832061

4 SubmittersRCV000179703 RCV003987425 RCV004698476 RCV005892039

NM_000048.4(ASL):c.291+1G>T

SNV
Germline

Chr7:66082452

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312342

rs_201523601

3 SubmittersRCV000411012

NM_000048.4(ASL):c.436C>T (p.Arg146Trp)

SNV
Germline

Chr7:66083164

Pathogenic

Argininosuccinate lyase deficiency
ASL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA312345

rs_199938613

6 SubmittersRCV001047877 RCV003422083

NM_000048.4(ASL):c.437G>A (p.Arg146Gln)

SNV
Germline

Chr7:66083165

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA312346

rs_796051931

5 SubmittersRCV000673353

NM_000048.4(ASL):c.507G>C (p.Trp169Cys)

SNV
Germline

Chr7:66086645

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA312321

rs_759952363

5 SubmittersRCV000674567

NM_000048.4(ASL):c.545G>A (p.Arg182Gln)

SNV
Germline

Chr7:66086764

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312323

rs_751590073

9 SubmittersRCV000454306

NM_000048.4(ASL):c.614C>T (p.Ala205Val)

SNV
Germline

Chr7:66087345

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA312324

rs_796051925

3 SubmittersRCV000634853 RCV004767126

NM_000048.4(ASL):c.649C>T (p.Arg217Ter)

SNV
Germline

Chr7:66087380

Pathogenic

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312325

rs_369879957

8 SubmittersRCV000185765 RCV000668606

NM_000048.4(ASL):c.688A>G (p.Met230Val)

SNV
Germline

Chr7:66087761

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312327

rs_143957662

3 SubmittersRCV001998138

NM_000048.4(ASL):c.925G>A (p.Gly309Arg)

SNV
Germline

Chr7:66089282

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312329

rs_769506424

2 SubmittersRCV003230904

NM_000048.4(ASL):c.1193C>A (p.Ala398Asp)

SNV
Germline

Chr7:66092606

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312333

rs_770167670

4 SubmittersRCV001892645

NM_000048.4(ASL):c.1297A>C (p.Ser433Arg)

SNV
Germline

Chr7:66092814

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA312337

rs_1554328459

3 SubmittersRCV000669888

NM_000048.4(ASL):c.175G>A (p.Glu59Lys)

SNV
Germline

Chr7:66081965

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA357215

rs_869312985

6 SubmittersRCV000210603 RCV000489282

NM_000048.4(ASL):c.257A>C (p.Glu86Ala)

SNV
Germline

Chr7:66082417

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA357221

rs_869312986

1 SubmittersRCV000210647

NM_000048.4(ASL):c.461T>C (p.Leu154Pro)

SNV
Germline

Chr7:66086599

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA357213

rs_869312988

1 SubmittersRCV000210597

NM_000048.4(ASL):c.718+5G>A

SNV
Germline

Chr7:66087796

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA357229

rs_869312990

3 SubmittersRCV000210713

NM_000048.4(ASL):c.762C>A (p.Ser254Arg)

SNV
Germline

Chr7:66088850

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA357217

rs_869312991

2 SubmittersRCV000210606

NM_000048.4(ASL):c.889C>T (p.Arg297Trp)

SNV
Germline

Chr7:66089146

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA357226

rs_869312992

3 SubmittersRCV000210677 RCV004586629

NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)

SNV
Germline

Chr7:66092877

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA357219

rs_869312994

2 SubmittersRCV000210614

NM_000048.4(ASL):c.524+2T>G

SNV
Germline

Chr7:66086664

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA357212

rs_869312976

8 SubmittersRCV000210554

NM_000048.4(ASL):c.1079T>C (p.Met360Thr)

SNV
Germline

Chr7:66092022

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA10576340

rs_875989948

3 SubmittersRCV000211672

NM_000048.4(ASL):c.332G>A (p.Arg111Gln)

SNV
Germline

Chr7:66082920

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4276905

rs_561367199

10 SubmittersRCV000493464 RCV000668710

NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys)

SNV
Germline

Chr7:66092067

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified
Congenital portosystemic shunt

Criteria Provided
Conflicting Classifications

CA10624173

rs_886062406

6 SubmittersRCV000274099 RCV003230485 RCV006634303

NM_000048.4(ASL):c.-44+9G>A

SNV
Germline

Chr7:66075865

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA10626304

rs_558890925

2 SubmittersRCV000300896 RCV000602830

NM_000048.4(ASL):c.-31G>A

SNV
Germline

Chr7:66076051

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA4276783

rs_766867890

2 SubmittersRCV000339407 RCV000444828

NM_000048.4(ASL):c.1270G>A (p.Val424Met)

SNV
Germline

Chr7:66092787

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4277372

rs_368264870

4 SubmittersRCV000277140 RCV005869393

NM_000048.4(ASL):c.578G>A (p.Arg193Gln)

SNV
Germline

Chr7:66086797

Pathogenic/Likely pathogenic

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277009

rs_373697663

8 SubmittersRCV000413440 RCV000609637

NM_000048.4(ASL):c.833+4A>G

SNV
Germline

Chr7:66088925

Conflicting classifications of pathogenicity

not specified
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277133

rs_375854730

2 SubmittersRCV000444409 RCV002522465

NM_000048.4(ASL):c.399G>A (p.Ser133=)

SNV
Germline

Chr7:66083127

Conflicting classifications of pathogenicity

not specified
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4276943

rs_141584041

3 SubmittersRCV000430810 RCV000872948

NM_000048.4(ASL):c.718+3G>A

SNV
Germline

Chr7:66087794

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277105

rs_368266194

2 SubmittersRCV001696764 RCV002522584

NM_000048.4(ASL):c.637C>T (p.Arg213Ter)

SNV
Germline

Chr7:66087368

Pathogenic

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277059

rs_761651320

10 SubmittersRCV000489563 RCV000588753

NM_000048.4(ASL):c.839G>A (p.Gly280Glu)

SNV
Germline

Chr7:66089096

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA367645418

rs_1085307952

3 SubmittersRCV000489046 RCV000669138

NM_000048.4(ASL):c.978G>C (p.Gln326His)

SNV
Germline

Chr7:66089335

Pathogenic/Likely pathogenic

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277213

rs_764356037

7 SubmittersRCV000489610 RCV001836830

NM_000048.4(ASL):c.571C>T (p.Arg191Trp)

SNV
Germline

Chr7:66086790

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277007

rs_143508372

9 SubmittersRCV000514327 RCV001805129

NM_000048.4(ASL):c.675C>G (p.Ile225Met)

SNV
Germline

Chr7:66087748

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367644483

rs_1554327265

2 SubmittersRCV000539996

NM_000048.4(ASL):c.740C>T (p.Ser247Leu)

SNV
Germline

Chr7:66088828

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA367645136

rs_1405344068

4 SubmittersRCV000554882 RCV001562220 RCV005722148

NM_000048.4(ASL):c.299T>C (p.Ile100Thr)

SNV
Germline

Chr7:66082887

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4276893

rs_202142867

6 SubmittersRCV000587929 RCV001576060

NM_000048.4(ASL):c.242T>C (p.Leu81Pro)

SNV
Germline

Chr7:66082402

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA4276860

rs_141046612

4 SubmittersRCV000634856 RCV004707386 RCV004702223

NM_000048.4(ASL):c.722A>C (p.Glu241Ala)

SNV
Germline

Chr7:66088810

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA159933464

rs_924321091

4 SubmittersRCV000634854 RCV004702222

NM_000048.4(ASL):c.91G>A (p.Asp31Asn)

SNV
Germline

Chr7:66081881

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4276827

rs_754995756

6 SubmittersRCV000665993

NM_000048.4(ASL):c.260A>G (p.Asp87Gly)

SNV
Germline

Chr7:66082420

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4276864

rs_752100894

4 SubmittersRCV000673369

NM_000048.4(ASL):c.281G>A (p.Arg94His)

SNV
Germline

Chr7:66082441

Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA159926331

rs_777437569

3 SubmittersRCV000665518 RCV001756123

NM_000048.4(ASL):c.337C>T (p.Arg113Trp)

SNV
Germline

Chr7:66082925

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4276906

rs_767543051

7 SubmittersRCV000668492

NM_000048.4(ASL):c.446+2T>C

SNV
Germline

Chr7:66083176

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367639582

rs_1268519003

3 SubmittersRCV000669012

NM_000048.4(ASL):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr7:66087369

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA367642974

rs_1449589636

6 SubmittersRCV000674987 RCV002466559

NM_000048.4(ASL):c.772G>A (p.Glu258Lys)

SNV
Germline

Chr7:66088860

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA159933546

rs_909358635

3 SubmittersRCV000670293

NM_000048.4(ASL):c.1154G>A (p.Arg385His)

SNV
Germline

Chr7:66092567

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277330

rs_746120802

6 SubmittersRCV000667516

NM_000048.4(ASL):c.377G>A (p.Arg126Gln)

SNV
Germline

Chr7:66083105

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4276936

rs_777235530

5 SubmittersRCV000672435

NM_000048.4(ASL):c.577C>T (p.Arg193Trp)

SNV
Germline

Chr7:66086796

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367642681

rs_1428029508

4 SubmittersRCV000668596

NM_000048.4(ASL):c.890G>A (p.Arg297Gln)

SNV
Germline

Chr7:66089147

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277165

rs_750431938

3 SubmittersRCV000669909

NM_000048.4(ASL):c.338G>A (p.Arg113Gln)

SNV
Germline

Chr7:66082926

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4276907

rs_752783461

5 SubmittersRCV000670964

NM_000048.4(ASL):c.447-1G>A

SNV
Germline

Chr7:66086584

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided
Sarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA4276970

rs_778254333

8 SubmittersRCV000668088 RCV001584537 RCV005901458

NM_000048.4(ASL):c.707G>A (p.Arg236Gln)

SNV
Germline

Chr7:66087780

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4277101

rs_764602422

10 SubmittersRCV000671416 RCV002260659

NM_000048.4(ASL):c.735G>A (p.Trp245Ter)

SNV
Germline

Chr7:66088823

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367645124

rs_1554327573

3 SubmittersRCV000667947

NM_000048.4(ASL):c.1311T>G (p.Tyr437Ter)

SNV
Germline

Chr7:66092828

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367653288

rs_932494060

2 SubmittersRCV000672953

NM_000048.4(ASL):c.13-1G>C

SNV
Germline

Chr7:66081802

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367637482

rs_1554326239

2 SubmittersRCV000668958

NM_000048.4(ASL):c.133T>A (p.Tyr45Asn)

SNV
Unknown

Chr7:66081923

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA4276833

rs_771012029

2 SubmittersRCV000666421

NM_000048.4(ASL):c.284G>A (p.Arg95His)

SNV
Germline

Chr7:66082444

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4276865

rs_150244667

5 SubmittersRCV000674562

NM_000048.4(ASL):c.292G>T (p.Glu98Ter)

SNV
Germline

Chr7:66082880

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA4276891

rs_770375565

2 SubmittersRCV000668876

NM_000048.4(ASL):c.566A>G (p.Glu189Gly)

SNV
Germline

Chr7:66086785

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277006

rs_756363516

5 SubmittersRCV000671347

NM_000048.4(ASL):c.918+5G>A

SNV
Germline

Chr7:66089180

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA4277171

rs_781331391

2 SubmittersRCV000669803

NM_000048.4(ASL):c.1062+1G>T

SNV
Unknown

Chr7:66089696

Likely pathogenic

Argininosuccinate lyase deficiency

No Assertion Criteria Provided

CA367647569

rs_1554327825

1 SubmittersRCV000674647

NM_000048.4(ASL):c.1300G>T (p.Val434Leu)

SNV
Germline

Chr7:66092817

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA4277381

rs_773071023

4 SubmittersRCV000674177 RCV002531346

NM_000048.4(ASL):c.1367G>A (p.Arg456Gln)

SNV
Germline

Chr7:66092884

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277403

rs_767271619

6 SubmittersRCV000666207

NM_000048.4(ASL):c.122G>A (p.Gly41Asp)

SNV
Germline

Chr7:66081912

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367638152

rs_1562737230

1 SubmittersRCV000700063

NM_000048.4(ASL):c.376C>T (p.Arg126Trp)

SNV
Germline

Chr7:66083104

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA159927114

rs_201962738

5 SubmittersRCV000797180 RCV001759511

NM_000048.4(ASL):c.401G>A (p.Gly134Asp)

SNV
Germline

Chr7:66083129

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4276944

rs_201352504

2 SubmittersRCV000796865

NM_000048.4(ASL):c.1366C>T (p.Arg456Trp)

SNV
Germline

Chr7:66092883

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
ASL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA4277402

rs_759396688

5 SubmittersRCV000817170 RCV003411805

NM_000048.4(ASL):c.603-1G>C

SNV
Germline

Chr7:66087333

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367642828

rs_1584028936

3 SubmittersRCV000809927

NM_000048.4(ASL):c.571C>G (p.Arg191Gly)

SNV
Germline

Chr7:66086790

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA367642653

rs_143508372

4 SubmittersRCV000853343 RCV005906938

NM_000048.4(ASL):c.99C>G (p.His33Gln)

SNV
Germline

Chr7:66081889

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
ASL-related disorder

Criteria Provided
Conflicting Classifications

CA4276829

rs_142077823

4 SubmittersRCV000894441 RCV003910651

NM_000048.4(ASL):c.1056G>A (p.Thr352=)

SNV
Germline

Chr7:66089689

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277262

rs_745476328

3 SubmittersRCV000885329

NM_000048.4(ASL):c.1263G>A (p.Ser421=)

SNV
Germline

Chr7:66092780

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
Familial cancer of breast

Criteria Provided
Conflicting Classifications

CA4277369

rs_542163407

3 SubmittersRCV000895197 RCV005906315

NM_000048.4(ASL):c.75C>T (p.Asn25=)

SNV
Germline

Chr7:66081865

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA4276819

rs_370260834

4 SubmittersRCV000924242 RCV005268813

NM_000048.4(ASL):c.243G>C (p.Leu81=)

SNV
Germline

Chr7:66082403

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4276861

rs_774204716

4 SubmittersRCV001159590

NM_000048.4(ASL):c.1342G>A (p.Val448Ile)

SNV
Germline

Chr7:66092859

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277393

rs_139410488

2 SubmittersRCV001033969

NM_000048.4(ASL):c.62T>C (p.Met21Thr)

SNV
Germline

Chr7:66081852

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA4276817

rs_774392615

3 SubmittersRCV001042384 RCV003230623

NM_000048.4(ASL):c.446C>T (p.Ala149Val)

SNV
Germline

Chr7:66083174

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4276951

rs_777288665

2 SubmittersRCV001068111

NM_000048.4(ASL):c.655G>C (p.Glu219Gln)

SNV
Germline

Chr7:66087386

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA159931699

rs_944576125

2 SubmittersRCV001044835

NM_000048.4(ASL):c.1349G>A (p.Trp450Ter)

SNV
Germline

Chr7:66092866

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367653509

rs_1786894242

1 SubmittersRCV001071721

NM_000048.4(ASL):c.919-1G>A

SNV
Germline

Chr7:66089275

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367646067

rs_1786770612

1 SubmittersRCV001044324

NM_000048.4(ASL):c.474C>T (p.Tyr158=)

SNV
Germline

Chr7:66086612

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA455450351

rs_1361999742

2 SubmittersRCV001160970

NM_000048.4(ASL):c.486G>A (p.Gln162=)

SNV
Germline

Chr7:66086624

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA455450358

rs_1786669549

2 SubmittersRCV001160971

NM_000048.4(ASL):c.720C>T (p.Ala240=)

SNV
Germline

Chr7:66088808

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277119

rs_764072757

2 SubmittersRCV001162563

NM_000048.4(ASL):c.1230G>C (p.Leu410=)

SNV
Germline

Chr7:66092643

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA455451905

rs_1397223617

2 SubmittersRCV001162566

NM_000048.4(ASL):c.1395G>A (p.Ter465=)

SNV
Germline

Chr7:66092912

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA455453163

rs_1339615185

2 SubmittersRCV001164614

NM_000048.4(ASL):c.557G>A (p.Arg186Gln)

SNV
Germline

Chr7:66086776

Pathogenic

Argininosuccinate lyase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA4277005

rs_752397242

7 SubmittersRCV001201220 RCV004570416 RCV004960521

NM_000048.4(ASL):c.706C>T (p.Arg236Trp)

SNV
Germline

Chr7:66087779

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277100

rs_761268464

5 SubmittersRCV001210762

NM_000048.4(ASL):c.719-1G>C

SNV
Germline

Chr7:66088806

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367645072

rs_369828060

1 SubmittersRCV001210624

NM_000048.4(ASL):c.1136G>A (p.Arg379His)

SNV
Germline

Chr7:66092079

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4277304

rs_200853731

4 SubmittersRCV001239019 RCV004768962 RCV005250162

NM_000048.4(ASL):c.256G>T (p.Glu86Ter)

SNV
Unknown

Chr7:66082416

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367638955

rs_1786532924

1 SubmittersRCV001264310

NM_000048.4(ASL):c.371G>A (p.Trp124Ter)

SNV
Germline

Chr7:66083099

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367639312

rs_1786558070

2 SubmittersRCV001264311

NM_000048.4(ASL):c.372G>A (p.Trp124Ter)

SNV
Unknown

Chr7:66083100

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639315

rs_1786558148

1 SubmittersRCV001264312

NM_000048.4(ASL):c.379C>T (p.Gln127Ter)

SNV
Unknown

Chr7:66083107

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639332

rs_1786558577

1 SubmittersRCV001264313

NM_000048.4(ASL):c.721G>T (p.Glu241Ter)

SNV
Unknown

Chr7:66088809

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367645092

rs_1786746301

1 SubmittersRCV001264314

NM_000048.4(ASL):c.814C>T (p.Gln272Ter)

SNV
Unknown

Chr7:66088902

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367645301

rs_1786750679

1 SubmittersRCV001264315

NM_000048.4(ASL):c.602+1G>T

SNV
Germline

Chr7:66086822

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367642786

rs_398123127

2 SubmittersRCV001328964

NM_000048.4(ASL):c.1080G>C (p.Met360Ile)

SNV
Germline

Chr7:66092023

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367650129

rs_1786857910

2 SubmittersRCV001344336

NM_000048.4(ASL):c.556C>T (p.Arg186Trp)

SNV
Germline

Chr7:66086775

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA4277004

rs_111407265

8 SubmittersRCV001358697 RCV001820057

NM_000048.4(ASL):c.349-1G>A

SNV
Germline

Chr7:66083076

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367639266

rs_1395478201

3 SubmittersRCV001377366

NM_000048.4(ASL):c.221G>A (p.Trp74Ter)

SNV
Germline

Chr7:66082381

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367638784

rs_2115694416

1 SubmittersRCV001388903

NM_000048.4(ASL):c.1095C>T (p.Ser365=)

SNV
Germline

Chr7:66092038

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277292

rs_749559501

2 SubmittersRCV001559203

NM_000048.4(ASL):c.1143+2T>G

SNV
Unknown

Chr7:66092088

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367650684

rs_2115760718

1 SubmittersRCV001795615

NM_000048.4(ASL):c.1267G>A (p.Asp423Asn)

SNV
Germline

Chr7:66092784

Conflicting classifications of pathogenicity

not specified
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277371

rs_778321544

2 SubmittersRCV001844500 RCV005038353

NM_000048.4(ASL):c.34C>T (p.Arg12Trp)

SNV
Germline

Chr7:66081824

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA159925570

rs_564735357

1 SubmittersRCV002024216

NM_000048.4(ASL):c.599G>T (p.Gly200Val)

SNV
Germline

Chr7:66086818

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367642774

rs_2115726233

2 SubmittersRCV002034148

NM_000048.4(ASL):c.377G>C (p.Arg126Pro)

SNV
Germline

Chr7:66083105

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639328

rs_777235530

1 SubmittersRCV001964192

NM_000048.4(ASL):c.1136G>T (p.Arg379Leu)

SNV
Germline

Chr7:66092079

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367650617

rs_200853731

1 SubmittersRCV001998774

NM_000048.4(ASL):c.437G>C (p.Arg146Pro)

SNV
Germline

Chr7:66083165

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367639537

rs_796051931

2 SubmittersRCV002045721

NM_000048.4(ASL):c.690G>A (p.Met230Ile)

SNV
Germline

Chr7:66087763

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367644657

rs_2115733193

1 SubmittersRCV002042436

NM_000048.4(ASL):c.348+1G>T

SNV
Germline

Chr7:66082937

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639256

rs_2115698756

1 SubmittersRCV002013281

NM_000048.4(ASL):c.1357C>T (p.Arg453Cys)

SNV
Germline

Chr7:66092874

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA4277398

rs_144591360

2 SubmittersRCV001983162 RCV004699593

NM_000048.4(ASL):c.1204G>A (p.Gly402Arg)

SNV
Germline

Chr7:66092617

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367651551

rs_727503812

1 SubmittersRCV002018824

NM_000048.4(ASL):c.1290C>A (p.Tyr430Ter)

SNV
Germline

Chr7:66092807

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367652955

rs_780846396

1 SubmittersRCV001975016

NM_000048.4(ASL):c.719-1G>A

SNV
Germline

Chr7:66088806

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA4277117

rs_369828060

1 SubmittersRCV001972780

NM_000048.4(ASL):c.1078A>G (p.Met360Val)

SNV
Germline

Chr7:66092021

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA367650110

rs_2115760128

2 SubmittersRCV002039297 RCV006266909

NM_000048.4(ASL):c.1128C>A (p.Tyr376Ter)

SNV
Germline

Chr7:66092071

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277299

rs_764546937

3 SubmittersRCV001959859

NM_000048.4(ASL):c.509G>A (p.Ser170Asn)

SNV
Germline

Chr7:66086647

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367642114

rs_1180650883

3 SubmittersRCV001963084

NM_000048.4(ASL):c.331C>T (p.Arg111Trp)

SNV
Germline

Chr7:66082919

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA159926865

rs_138310841

4 SubmittersRCV001978315

NM_000048.4(ASL):c.1219C>T (p.Gln407Ter)

SNV
Germline

Chr7:66092632

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367651750

rs_2115764913

1 SubmittersRCV001913957

NM_000048.4(ASL):c.454G>A (p.Asp152Asn)

SNV
Germline

Chr7:66086592

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA4276973

rs_780023054

1 SubmittersRCV002001661

NM_000048.4(ASL):c.299T>A (p.Ile100Asn)

SNV
Germline

Chr7:66082887

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4276894

rs_202142867

2 SubmittersRCV002248971

NM_000048.4(ASL):c.493C>T (p.Gln165Ter)

SNV
Unknown

Chr7:66086631

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367642005

rs_2485008020

1 SubmittersRCV002306544

NM_000048.4(ASL):c.398C>A (p.Ser133Ter)

SNV
Unknown

Chr7:66083126

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639369

rs_748203708

1 SubmittersRCV002308045

NM_000048.4(ASL):c.1154G>T (p.Arg385Leu)

SNV
Germline

Chr7:66092567

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367651056

rs_746120802

1 SubmittersRCV003037232

NM_000048.4(ASL):c.1267G>C (p.Asp423His)

SNV
Germline

Chr7:66092784

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367652567

rs_778321544

1 SubmittersRCV003060118

NM_000048.4(ASL):c.932T>C (p.Leu311Pro)

SNV
Germline

Chr7:66089289

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367646183

rs_2485019558

1 SubmittersRCV003087594

NM_000048.4(ASL):c.1135C>G (p.Arg379Gly)

SNV
Germline

Chr7:66092078

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277303

rs_28940287

4 SubmittersRCV002624490

NM_000048.4(ASL):c.974T>G (p.Leu325Ter)

SNV
Germline

Chr7:66089331

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277212

rs_756339957

2 SubmittersRCV003115297

NM_000048.4(ASL):c.691G>C (p.Asp231His)

SNV
Germline

Chr7:66087764

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367644685

rs_1786713307

1 SubmittersRCV002597891

NM_000048.4(ASL):c.302G>A (p.Gly101Asp)

SNV
Germline

Chr7:66082890

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA4276895

rs_775061205

1 SubmittersRCV002690401

NM_000048.4(ASL):c.467C>A (p.Pro156Gln)

SNV
Germline

Chr7:66086605

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367641760

rs_769017508

1 SubmittersRCV002725527

NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)

SNV
Germline

Chr7:66092871

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA367653561

rs_1211112295

3 SubmittersRCV002806261 RCV004700830

NM_000048.4(ASL):c.723G>C (p.Glu241Asp)

SNV
Germline

Chr7:66088811

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367645095

rs_1409068410

1 SubmittersRCV002828337

NM_000048.4(ASL):c.767T>C (p.Met256Thr)

SNV
Germline

Chr7:66088855

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277127

rs_149057077

2 SubmittersRCV002943663

NM_000048.4(ASL):c.976C>T (p.Gln326Ter)

SNV
Germline

Chr7:66089333

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367646704

rs_398123129

1 SubmittersRCV002996425

NM_000048.4(ASL):c.446+1G>C

SNV
Germline

Chr7:66083175

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639575

rs_142637046

1 SubmittersRCV003036281

NM_000048.4(ASL):c.611T>C (p.Ile204Thr)

SNV
Germline

Chr7:66087342

Conflicting classifications of pathogenicity

Inborn genetic diseases
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA4277053

rs_745502369

3 SubmittersRCV003001208 RCV003497967

NM_000048.4(ASL):c.978+1G>A

SNV
Germline

Chr7:66089336

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA159934539

rs_569859973

2 SubmittersRCV003155643

NM_000048.4(ASL):c.1340G>A (p.Ser447Asn)

SNV
Germline

Chr7:66092857

Likely pathogenic

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA159942893

rs_373519615

2 SubmittersRCV003156631 RCV003475538

NM_000048.4(ASL):c.436C>G (p.Arg146Gly)

SNV
Germline

Chr7:66083164

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639529

rs_199938613

1 SubmittersRCV003324325

NM_000048.4(ASL):c.434A>G (p.Asp145Gly)

SNV
Germline

Chr7:66083162

Conflicting classifications of pathogenicity

not specified
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA367639521

rs_1348290958

2 SubmittersRCV003331818 RCV003475563

NM_000048.4(ASL):c.1138A>G (p.Lys380Glu)

SNV
Germline

Chr7:66092081

Conflicting classifications of pathogenicity

Condition: not provided
Argininosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

rs_2485028603

3 SubmittersRCV004573125 RCV005254793

NM_000048.4(ASL):c.617G>T (p.Gly206Val)

SNV
Germline

Chr7:66087348

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277056

rs_760559303

2 SubmittersRCV003472620

NM_000048.4(ASL):c.1331C>T (p.Ala444Val)

SNV
Germline

Chr7:66092848

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA4277390

rs_749788626

2 SubmittersRCV003472630 RCV004701070

NM_000048.4(ASL):c.656-1G>A

SNV
Germline

Chr7:66087728

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367644367

rs_2485013529

2 SubmittersRCV003472639

NM_000048.4(ASL):c.226C>T (p.Gln76Ter)

SNV
Unknown

Chr7:66082386

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA4276856

rs_373966403

1 SubmittersRCV003472644

NM_000048.4(ASL):c.208-1G>T

SNV
Unknown

Chr7:66082367

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367638694

rs_1487170309

1 SubmittersRCV003472645

NM_000048.4(ASL):c.1062+5G>C

SNV
Germline

Chr7:66089700

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA4277264

rs_779486497

2 SubmittersRCV003472650

NM_000048.4(ASL):c.311C>T (p.Ala104Val)

SNV
Germline

Chr7:66082899

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA367639185

rs_2484997376

3 SubmittersRCV003472661 RCV005062965

NM_000048.4(ASL):c.1143+1G>T

SNV
Germline

Chr7:66092087

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367650667

rs_2485028634

2 SubmittersRCV003472682

NM_000048.4(ASL):c.1143+1G>C

SNV
Unknown

Chr7:66092087

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367650668

rs_2485028634

1 SubmittersRCV003472697

NM_000048.4(ASL):c.603-2A>G

SNV
Unknown

Chr7:66087332

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367642825

rs_2485011270

1 SubmittersRCV003472713

NM_000048.4(ASL):c.348+1G>A

SNV
Germline

Chr7:66082937

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367639258

rs_2115698756

2 SubmittersRCV003472721

NM_000048.4(ASL):c.721G>A (p.Glu241Lys)

SNV
Germline

Chr7:66088809

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367645087

rs_1786746301

2 SubmittersRCV003472729

NM_000048.4(ASL):c.106G>T (p.Glu36Ter)

SNV
Unknown

Chr7:66081896

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367638072

rs_2484993575

1 SubmittersRCV003472758

NM_000048.4(ASL):c.834-1G>A

SNV
Germline

Chr7:66089090

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367645384

rs_768722904

2 SubmittersRCV003472784

NM_000048.4(ASL):c.1143+1G>A

SNV
Germline

Chr7:66092087

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367650669

rs_2485028634

1 SubmittersRCV003498239

NM_000048.4(ASL):c.711C>G (p.Asp237Glu)

SNV
Germline

Chr7:66087784

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367644842

rs_2485013779

1 SubmittersRCV003498957

NM_000048.4(ASL):c.857A>C (p.Gln286Pro)

SNV
Germline

Chr7:66089114

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367645505

rs_28941472

1 SubmittersRCV003499799

NM_000048.4(ASL):c.545G>C (p.Arg182Pro)

SNV
Germline

Chr7:66086764

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367642480

rs_751590073

2 SubmittersRCV003497774

NM_000048.4(ASL):c.544C>G (p.Arg182Gly)

SNV
Germline

Chr7:66086763

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA367642474

rs_398123126

3 SubmittersRCV003499942 RCV005407188

NM_000048.4(ASL):c.291+2T>C

SNV
Germline

Chr7:66082453

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639133

rs_2484995844

1 SubmittersRCV003498767

NM_000048.4(ASL):c.616G>A (p.Gly206Ser)

SNV
Germline

Chr7:66087347

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367642887

rs_2485011388

1 SubmittersRCV003498669

NM_000048.4(ASL):c.176A>T (p.Glu59Val)

SNV
Germline

Chr7:66081966

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367638392

rs_2484994019

1 SubmittersRCV003499454

NM_000048.4(ASL):c.104G>A (p.Trp35Ter)

SNV
Germline

Chr7:66081894

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367638057

rs_2484993553

2 SubmittersRCV003499488

NM_000048.4(ASL):c.1250+1G>A

SNV
Germline

Chr7:66092664

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367652203

rs_2485031310

1 SubmittersRCV003603340

NM_000048.4(ASL):c.689T>C (p.Met230Thr)

SNV
Germline

Chr7:66087762

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367644634

rs_2485013685

1 SubmittersRCV003603227

NM_000048.4(ASL):c.387C>A (p.Cys129Ter)

SNV
Germline

Chr7:66083115

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639350

rs_2484998179

1 SubmittersRCV003603491

NM_000048.4(ASL):c.617G>A (p.Gly206Asp)

SNV
Germline

Chr7:66087348

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367642890

rs_760559303

1 SubmittersRCV003604221

NM_000048.4(ASL):c.674T>C (p.Ile225Thr)

SNV
Germline

Chr7:66087747

Conflicting classifications of pathogenicity

Argininosuccinate lyase deficiency
not specified

Criteria Provided
Conflicting Classifications

CA4277097

rs_774703196

2 SubmittersRCV003604104 RCV004701768

NM_000048.4(ASL):c.13-2A>G

SNV
Germline

Chr7:66081801

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367637466

rs_2484993078

1 SubmittersRCV003604384

NM_000048.4(ASL):c.603-2A>C

SNV
Germline

Chr7:66087332

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367642823

rs_2485011270

1 SubmittersRCV003604401

NM_000048.4(ASL):c.208-1G>A

SNV
Germline

Chr7:66082367

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367638689

rs_1487170309

1 SubmittersRCV003604275

NM_000048.4(ASL):c.280C>A (p.Arg94Ser)

SNV
Germline

Chr7:66082440

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367639075

rs_374304304

1 SubmittersRCV003604438

NM_000048.4(ASL):c.656-2A>C

SNV
Germline

Chr7:66087727

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367644358

rs_2485013520

1 SubmittersRCV003604490

NM_000048.4(ASL):c.447-2A>G

SNV
Germline

Chr7:66086583

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367641461

rs_2485007765

2 SubmittersRCV003604517

NM_000048.4(ASL):c.602+2T>C

SNV
Germline

Chr7:66086823

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367642789

rs_1584028092

1 SubmittersRCV003604447

NM_000048.4(ASL):c.963C>A (p.Tyr321Ter)

SNV
Germline

Chr7:66089320

Pathogenic/Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA367646532

rs_2485019700

2 SubmittersRCV003604618

NM_000048.4(ASL):c.718+1G>A

SNV
Germline

Chr7:66087792

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367644945

rs_1786714587

1 SubmittersRCV003602641

NM_000048.4(ASL):c.638G>C (p.Arg213Pro)

SNV
Germline

Chr7:66087369

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA367642976

rs_1449589636

1 SubmittersRCV003872708

NM_000048.4(ASL):c.343G>T (p.Asp115Tyr)

SNV
Germline

Chr7:66082931

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA4276908

rs_756692067

1 SubmittersRCV003881720

NM_000048.4(ASL):c.623C>G (p.Pro208Arg)

SNV
Unknown

Chr7:66087354

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1263616535

1 SubmittersRCV004560456

NM_000048.4(ASL):c.778C>T (p.Leu260Phe)

SNV
Unknown

Chr7:66088866

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_2485017452

1 SubmittersRCV004560460

NM_000048.4(ASL):c.525-1G>A

SNV
Unknown

Chr7:66086743

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1786673966

1 SubmittersRCV004573580

NM_000048.4(ASL):c.206A>G (p.Lys69Arg)

SNV
Unknown

Chr7:66081996

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_2484994153

1 SubmittersRCV004573592

NM_000048.4(ASL):c.656-2A>T

SNV
Unknown

Chr7:66087727

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_2485013520

1 SubmittersRCV004573614

NM_000048.4(ASL):c.754C>T (p.His252Tyr)

SNV
Germline

Chr7:66088842

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV004821111

NM_000048.4(ASL):c.175G>T (p.Glu59Ter)

SNV
Germline

Chr7:66081965

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005047997

NM_000048.4(ASL):c.749T>A (p.Met250Lys)

SNV
Germline

Chr7:66088837

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005035851

NM_000048.4(ASL):c.718+1G>C

SNV
Germline

Chr7:66087792

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005078051

NM_000048.4(ASL):c.377G>T (p.Arg126Leu)

SNV
Germline

Chr7:66083105

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005088349

NM_000048.4(ASL):c.454G>T (p.Asp152Tyr)

SNV
Germline

Chr7:66086592

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005109860

NM_000048.4(ASL):c.524+1G>A

SNV
Germline

Chr7:66086663

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005150052

NM_000048.4(ASL):c.328G>T (p.Gly110Ter)

SNV
Germline

Chr7:66082916

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005200622

NM_000048.4(ASL):c.2T>C (p.Met1Thr)

SNV
Germline

Chr7:66076083

Likely pathogenic

Argininosuccinate lyase deficiency

No Assertion Criteria Provided

1 SubmittersRCV005611704

NM_000048.4(ASL):c.898G>T (p.Ala300Ser)

SNV
Germline

Chr7:66089155

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005622942

NM_000048.4(ASL):c.913G>C (p.Gly305Arg)

SNV
Germline

Chr7:66089170

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV005622943

NM_000048.4(ASL):c.197G>A (p.Gly66Asp)

SNV
Germline

Chr7:66081987

Pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006504006

NM_000048.4(ASL):c.63G>A (p.Met21Ile)

SNV
Germline

Chr7:66081853

Likely pathogenic

Argininosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV006522007