Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)	SNV Germline	Chr22:40365000	Pathogenic	Adenylosuccinate lyase deficiency	No Assertion Criteria Provided	CA115564	rs_119450940	1 SubmittersRCV000002565
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)	SNV Germline	Chr22:40364965	Pathogenic	Adenylosuccinate lyase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115565	rs_119450941	21 SubmittersRCV000002566 RCV000186693 RCV002512680
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala)	SNV Germline	Chr22:40349976	Pathogenic	Adenylosuccinate lyase deficiency	No Assertion Criteria Provided	CA115566	rs_119450942	1 SubmittersRCV000002567
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)	SNV Germline	Chr22:40364952	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA115567	rs_119450943	3 SubmittersRCV000002568
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)	SNV Germline	Chr22:40358950	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115568	rs_28941471	3 SubmittersRCV000002569 RCV000186674
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	SNV Germline	Chr22:40360436	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency ADSL-related disorder Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115569	rs_119450944	5 SubmittersRCV000002570 RCV003398421 RCV002280090
NM_000026.4(ADSL):c.674T>C (p.Met225Thr)	SNV Germline	Chr22:40359279	Pathogenic	Adenylosuccinate lyase deficiency	No Assertion Criteria Provided	CA115570	rs_119450945	1 SubmittersRCV000002572
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln)	SNV Germline	Chr22:40364286	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA220242	rs_192303222	3 SubmittersRCV000697137 RCV000723724
NM_000026.4(ADSL):c.735A>T (p.Arg245=)	SNV Germline	Chr22:40360435	Conflicting classifications of pathogenicity	not specified Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA220244	rs_143977255	3 SubmittersRCV000186609 RCV000723714 RCV001079876
NM_000026.4(ADSL):c.357+6C>T	SNV Germline	Chr22:40350041	Conflicting classifications of pathogenicity	not specified Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA289316	rs_181628906	5 SubmittersRCV000123547 RCV000289803 RCV000710482
NM_000026.4(ADSL):c.357+7G>A	SNV Germline	Chr22:40350042	Conflicting classifications of pathogenicity	not specified Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA289317	rs_199993991	6 SubmittersRCV000123548 RCV000347351 RCV000726640
NM_000026.4(ADSL):c.363G>A (p.Leu121=)	SNV Germline	Chr22:40353078	Conflicting classifications of pathogenicity	not specified Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA289320	rs_138203195	3 SubmittersRCV000123552 RCV000864071
NM_000026.4(ADSL):c.702-7T>C	SNV Germline	Chr22:40360395	Conflicting classifications of pathogenicity	not specified Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA233448	rs_201509960	3 SubmittersRCV000186673 RCV001081511 RCV000723924
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)	SNV Germline	Chr22:40349925	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA241261	rs_780425464	4 SubmittersRCV000723817 RCV000527728
NM_000026.4(ADSL):c.895A>G (p.Met299Val)	SNV Germline	Chr22:40361520	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency ADSL-related disorder	Criteria Provided Conflicting Classifications	CA247928	rs_34396910	6 SubmittersRCV000710485 RCV001087090 RCV003907634
NM_000026.4(ADSL):c.5C>T (p.Ala2Val)	SNV Germline	Chr22:40346563	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA313131	rs_143083947	3 SubmittersRCV000186704 RCV001363283
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)	SNV Germline	Chr22:40350018	Pathogenic	Condition: not provided Adenylosuccinate lyase deficiency Generalized myoclonic seizure Progressive neurologic deterioration Inability to walk Difficulty standing Severe global developmental delay Inborn genetic diseases ADSL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA206321	rs_374259530	10 SubmittersRCV000186703 RCV000193076 RCV000415212 RCV002513975 RCV004755797
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)	SNV Germline	Chr22:40354266	Pathogenic/Likely pathogenic	Condition: not provided Generalized myoclonic seizure Progressive neurologic deterioration Inability to walk Difficulty standing Severe global developmental delay Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA313144	rs_756210458	4 SubmittersRCV000186711 RCV000415081 RCV001049471
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)	SNV Germline	Chr22:40358949	Pathogenic	Condition: not provided Adenylosuccinate lyase deficiency ADSL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA313142	rs_750614500	6 SubmittersRCV000186710 RCV000763484 RCV003390914
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)	SNV Germline	Chr22:40358997	Conflicting classifications of pathogenicity	not specified Condition: not provided Adenylosuccinate lyase deficiency ADSL-related disorder	Criteria Provided Conflicting Classifications	CA313090	rs_148411623	5 SubmittersRCV000186675 RCV000766357 RCV001082607 RCV003927731
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)	SNV Germline	Chr22:40361578	Pathogenic/Likely pathogenic	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA313105	rs_202064195	4 SubmittersRCV000186684 RCV000278336
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)	SNV Germline	Chr22:40361634	Pathogenic	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA313099	rs_761493155	4 SubmittersRCV000186680 RCV001209833
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)	SNV Germline	Chr22:40364302	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA313110	rs_796052247	2 SubmittersRCV000186689 RCV001852436
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)	SNV Germline	Chr22:40364361	Pathogenic/Likely pathogenic	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA313112	rs_763542069	5 SubmittersRCV000186690 RCV000779373
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)	SNV Germline	Chr22:40364964	Pathogenic	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter	CA313115	rs_796052248	2 SubmittersRCV000186692 RCV001253786
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)	SNV Germline	Chr22:40364979	Conflicting classifications of pathogenicity	not specified Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA313118	rs_200814886	4 SubmittersRCV000186695 RCV000725224 RCV001489163
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	SNV Germline	Chr22:40365027	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA313120	rs_777821034	5 SubmittersRCV000186696 RCV000763485
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)	SNV Germline	Chr22:40365037	Pathogenic/Likely pathogenic	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA313145	rs_372895468	2 SubmittersRCV000186712 RCV001781543
NM_000026.4(ADSL):c.994G>C (p.Asp332His)	SNV Unknown	Chr22:40361619	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_776496275	1 SubmittersRCV000990447
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	SNV Germline	Chr22:40365030	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10247981	rs_771121666	6 SubmittersRCV000526230 RCV000224729 RCV002516223
NM_000026.4(ADSL):c.403-4G>A	SNV Germline	Chr22:40354244	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA10247715	rs_373652667	5 SubmittersRCV000227251 RCV000428118 RCV000710484
NM_000026.4(ADSL):c.270T>C (p.Ala90=)	SNV Germline	Chr22:40349948	Conflicting classifications of pathogenicity	not specified Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10247657	rs_143275316	5 SubmittersRCV000253583 RCV001088635 RCV000731094
NM_000026.4(ADSL):c.579G>C (p.Leu193=)	SNV Germline	Chr22:40358960	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247759	rs_751928831	3 SubmittersRCV000349838 RCV001150921
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)	SNV Germline	Chr22:40361532	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10247868	rs_373458753	4 SubmittersRCV000293106 RCV000727198
NM_000026.4(ADSL):c.763C>T (p.Leu255=)	SNV Germline	Chr22:40360463	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10247805	rs_771049726	3 SubmittersRCV000341448 RCV002261074
NM_000026.4(ADSL):c.1200T>C (p.His400=)	SNV Germline	Chr22:40364888	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247962	rs_751401941	2 SubmittersRCV000407816
NM_000026.4(ADSL):c.-37C>G	SNV Germline	Chr22:40346522	Conflicting classifications of pathogenicity	not specified Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247561	rs_372357778	2 SubmittersRCV000425428 RCV001861602
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)	SNV Germline	Chr22:40349931	Pathogenic	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA16608180	rs_1036185928	4 SubmittersRCV000434653 RCV000679862
NM_000026.4(ADSL):c.926G>A (p.Arg309His)	SNV Germline	Chr22:40361551	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247869	rs_749817666	2 SubmittersRCV000443295 RCV000465601
NM_000026.4(ADSL):c.793-5C>A	SNV Germline	Chr22:40361268	Conflicting classifications of pathogenicity	not specified Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247832	rs_377164829	2 SubmittersRCV000427551 RCV002521728
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp)	SNV Germline	Chr22:40364294	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247929	rs_376533026	2 SubmittersRCV000427780 RCV000821230
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)	SNV Germline	Chr22:40364967	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247974	rs_758241731	2 SubmittersRCV000435716 RCV000696181
NM_000026.4(ADSL):c.20A>G (p.His7Arg)	SNV Germline	Chr22:40346578	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10247585	rs_377248090	3 SubmittersRCV000436772 RCV001202411 RCV004022357
NM_000026.4(ADSL):c.563G>A (p.Arg188His)	SNV Germline	Chr22:40358944	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247756	rs_761937276	2 SubmittersRCV000432475 RCV000473273
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)	SNV Germline	Chr22:40366467	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA16609100	rs_1057521071	2 SubmittersRCV000438014 RCV000688125
NM_000026.4(ADSL):c.153+1G>T	SNV Germline	Chr22:40346712	Conflicting classifications of pathogenicity	Condition: not provided not specified Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA411632938	rs_1555903969	3 SubmittersRCV000523755 RCV000610929 RCV002525131
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)	SNV Germline	Chr22:40361511	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10247865	rs_536254357	4 SubmittersRCV000521643 RCV001350739 RCV001814999 RCV002527600
NM_000026.4(ADSL):c.408C>T (p.Ala136=)	SNV Germline	Chr22:40354253	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA10247718	rs_368166273	2 SubmittersRCV000596859 RCV001476772
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)	SNV Germline	Chr22:40346629	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA411632693	rs_1257907226	3 SubmittersRCV000634534 RCV002529825
NM_000026.4(ADSL):c.581G>A (p.Arg194His)	SNV Germline	Chr22:40358962	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA10247760	rs_755359802	3 SubmittersRCV000634539 RCV001269550
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)	SNV Germline	Chr22:40358931	Pathogenic	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1569096551	2 SubmittersRCV000707388 RCV004721573
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter)	SNV Germline	Chr22:40363065	Pathogenic/Likely pathogenic	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_879257322	2 SubmittersRCV000760928 RCV002536581
NM_000026.4(ADSL):c.183A>C (p.Gln61His)	SNV Germline	Chr22:40349861	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1601551862	2 SubmittersRCV000798632 RCV003325520
NM_000026.4(ADSL):c.402+1G>T	SNV Germline	Chr22:40353118	Likely pathogenic	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_761551284	2 SubmittersRCV000810236 RCV003329344
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)	SNV Germline	Chr22:40360425	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1601586359	2 SubmittersRCV000990446
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)	SNV Germline	Chr22:40349946	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1601552154	1 SubmittersRCV000995690
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)	SNV Germline	Chr22:40361602	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_2044792794	1 SubmittersRCV001050339
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)	SNV Germline	Chr22:40364360	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_755492501	2 SubmittersRCV001039703 RCV001268745
NM_000026.4(ADSL):c.1102-6C>G	SNV Germline	Chr22:40364270	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications		rs_758666194	2 SubmittersRCV001064875
NM_000026.4(ADSL):c.1011-9G>C	SNV Germline	Chr22:40362972	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications		rs_780794164	2 SubmittersRCV001150924
NM_000026.4(ADSL):c.135G>A (p.Trp45Ter)	SNV Germline	Chr22:40346693	Pathogenic	Adenylosuccinate lyase deficiency ADSL-related disorder	Criteria Provided Single Submitter		rs_774435749	2 SubmittersRCV001220597 RCV004756193
NM_000026.4(ADSL):c.701+1G>A	SNV Germline	Chr22:40359307	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_546878201	1 SubmittersRCV001202658
NM_000026.4(ADSL):c.-49T>C	SNV Germline	Chr22:40346510	Pathogenic/Likely pathogenic	Inborn genetic diseases Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_1272053459	3 SubmittersRCV001266879 RCV002221270
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)	SNV Germline	Chr22:40354267	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_563054392	1 SubmittersRCV001300027
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)	SNV Germline	Chr22:40354284	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_746180694	3 SubmittersRCV001330906 RCV004035707
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)	SNV Germline	Chr22:40358883	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1385675650	3 SubmittersRCV001330907 RCV001509099
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)	SNV Germline	Chr22:40350019	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1035500320	1 SubmittersRCV001366584
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)	SNV Germline	Chr22:40361282	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_746501563	3 SubmittersRCV001382689
NM_000026.4(ADSL):c.829G>T (p.Glu277Ter)	SNV Germline	Chr22:40361309	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_2044777708	1 SubmittersRCV001384334
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)	SNV Germline	Chr22:40363058	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications		rs_758895348	2 SubmittersRCV001550362 RCV002570686
NM_000026.4(ADSL):c.358-1G>C	SNV Germline	Chr22:40353072	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_2146634231	1 SubmittersRCV001785896
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)	SNV Germline	Chr22:40364279	Conflicting classifications of pathogenicity	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications		rs_752104617	2 SubmittersRCV001786850 RCV002034624
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)	SNV Germline	Chr22:40364910	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_747964752	2 SubmittersRCV001950883
NM_000026.4(ADSL):c.357+1G>A	SNV Germline	Chr22:40350036	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1275901345	1 SubmittersRCV002017498
NM_000026.4(ADSL):c.1090G>A (p.Val364Met)	SNV Germline	Chr22:40363060	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_370851726	1 SubmittersRCV001971171
NM_000026.4(ADSL):c.628C>T (p.Gln210Ter)	SNV Germline	Chr22:40359009	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1410270058	1 SubmittersRCV002037760
NM_000026.4(ADSL):c.733C>T (p.Arg245Ter)	SNV Germline	Chr22:40360433	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_2146658733	1 SubmittersRCV001942110
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)	SNV Germline	Chr22:40346569	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_766546584	2 SubmittersRCV002038035 RCV004043243
NM_000026.4(ADSL):c.702-2A>G	SNV Germline	Chr22:40360400	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1268264761	1 SubmittersRCV002030152
NM_000026.4(ADSL):c.151C>T (p.Gln51Ter)	SNV Germline	Chr22:40346709	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1193437955	1 SubmittersRCV001956156
NM_000026.4(ADSL):c.78G>A (p.Met26Ile)	SNV Germline	Chr22:40346636	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_779612414	1 SubmittersRCV001918325
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)	SNV Germline	Chr22:40358961	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications		rs_1465152683	2 SubmittersRCV002010959 RCV004591694
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)	SNV Germline	Chr22:40365043	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_775671027	1 SubmittersRCV002010963
NM_000026.4(ADSL):c.1191+5G>C	SNV Germline	Chr22:40364370	Pathogenic	Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_773404017	2 SubmittersRCV002254977 RCV003603114
NM_000026.4(ADSL):c.802G>C (p.Asp268His)	SNV Germline	Chr22:40361282	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003064660
NM_000026.4(ADSL):c.445C>T (p.Arg149Ter)	SNV Germline	Chr22:40354290	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003072072
NM_000026.4(ADSL):c.701+1G>T	SNV Germline	Chr22:40359307	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002726026
NM_000026.4(ADSL):c.403-1G>C	SNV Germline	Chr22:40354247	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV002847106
NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)	SNV Germline	Chr22:40365042	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003007416
NM_000026.4(ADSL):c.482+1G>C	SNV Germline	Chr22:40354328	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003236504
NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)	SNV Germline	Chr22:40358949	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications			2 SubmittersRCV003499623
NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter)	SNV Germline	Chr22:40365003	Pathogenic/Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003499624
NM_000026.4(ADSL):c.1010+1G>C	SNV Germline	Chr22:40361636	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter			1 SubmittersRCV003603277

NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)

SNV
Germline

Chr22:40365000

Pathogenic

Adenylosuccinate lyase deficiency

No Assertion Criteria Provided

CA115564

rs_119450940

1 SubmittersRCV000002565

NM_000026.4(ADSL):c.1277G>A (p.Arg426His)

SNV
Germline

Chr22:40364965

Pathogenic

Adenylosuccinate lyase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA115565

rs_119450941

21 SubmittersRCV000002566 RCV000186693 RCV002512680

NM_000026.4(ADSL):c.298C>G (p.Pro100Ala)

SNV
Germline

Chr22:40349976

Pathogenic

Adenylosuccinate lyase deficiency

No Assertion Criteria Provided

CA115566

rs_119450942

1 SubmittersRCV000002567

NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)

SNV
Germline

Chr22:40364952

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA115567

rs_119450943

3 SubmittersRCV000002568

NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)

SNV
Germline

Chr22:40358950

Pathogenic/Likely pathogenic

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115568

rs_28941471

3 SubmittersRCV000002569 RCV000186674

NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)

SNV
Germline

Chr22:40360436

Pathogenic/Likely pathogenic

Adenylosuccinate lyase deficiency
ADSL-related disorder
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115569

rs_119450944

5 SubmittersRCV000002570 RCV003398421 RCV002280090

NM_000026.4(ADSL):c.674T>C (p.Met225Thr)

SNV
Germline

Chr22:40359279

Pathogenic

Adenylosuccinate lyase deficiency

No Assertion Criteria Provided

CA115570

rs_119450945

1 SubmittersRCV000002572

NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln)

SNV
Germline

Chr22:40364286

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA220242

rs_192303222

3 SubmittersRCV000697137 RCV000723724

NM_000026.4(ADSL):c.735A>T (p.Arg245=)

SNV
Germline

Chr22:40360435

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA220244

rs_143977255

3 SubmittersRCV000186609 RCV000723714 RCV001079876

NM_000026.4(ADSL):c.357+6C>T

SNV
Germline

Chr22:40350041

Conflicting classifications of pathogenicity

not specified
Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289316

rs_181628906

5 SubmittersRCV000123547 RCV000289803 RCV000710482

NM_000026.4(ADSL):c.357+7G>A

SNV
Germline

Chr22:40350042

Conflicting classifications of pathogenicity

not specified
Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289317

rs_199993991

6 SubmittersRCV000123548 RCV000347351 RCV000726640

NM_000026.4(ADSL):c.363G>A (p.Leu121=)

SNV
Germline

Chr22:40353078

Conflicting classifications of pathogenicity

not specified
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA289320

rs_138203195

3 SubmittersRCV000123552 RCV000864071

NM_000026.4(ADSL):c.702-7T>C

SNV
Germline

Chr22:40360395

Conflicting classifications of pathogenicity

not specified
Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA233448

rs_201509960

3 SubmittersRCV000186673 RCV001081511 RCV000723924

NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)

SNV
Germline

Chr22:40349925

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA241261

rs_780425464

4 SubmittersRCV000723817 RCV000527728

NM_000026.4(ADSL):c.895A>G (p.Met299Val)

SNV
Germline

Chr22:40361520

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency
ADSL-related disorder

Criteria Provided
Conflicting Classifications

CA247928

rs_34396910

6 SubmittersRCV000710485 RCV001087090 RCV003907634

NM_000026.4(ADSL):c.5C>T (p.Ala2Val)

SNV
Germline

Chr22:40346563

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA313131

rs_143083947

3 SubmittersRCV000186704 RCV001363283

NM_000026.4(ADSL):c.340T>C (p.Tyr114His)

SNV
Germline

Chr22:40350018

Pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency
Generalized myoclonic seizure
Progressive neurologic deterioration
Inability to walk
Difficulty standing
Severe global developmental delay
Inborn genetic diseases
ADSL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA206321

rs_374259530

10 SubmittersRCV000186703 RCV000193076 RCV000415212 RCV002513975 RCV004755797

NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)

SNV
Germline

Chr22:40354266

Pathogenic/Likely pathogenic

Condition: not provided
Generalized myoclonic seizure
Progressive neurologic deterioration
Inability to walk
Difficulty standing
Severe global developmental delay
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA313144

rs_756210458

4 SubmittersRCV000186711 RCV000415081 RCV001049471

NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)

SNV
Germline

Chr22:40358949

Pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency
ADSL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA313142

rs_750614500

6 SubmittersRCV000186710 RCV000763484 RCV003390914

NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)

SNV
Germline

Chr22:40358997

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Adenylosuccinate lyase deficiency
ADSL-related disorder

Criteria Provided
Conflicting Classifications

CA313090

rs_148411623

5 SubmittersRCV000186675 RCV000766357 RCV001082607 RCV003927731

NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)

SNV
Germline

Chr22:40361578

Pathogenic/Likely pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA313105

rs_202064195

4 SubmittersRCV000186684 RCV000278336

NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)

SNV
Germline

Chr22:40361634

Pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA313099

rs_761493155

4 SubmittersRCV000186680 RCV001209833

NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)

SNV
Germline

Chr22:40364302

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA313110

rs_796052247

2 SubmittersRCV000186689 RCV001852436

NM_000026.4(ADSL):c.1187G>A (p.Arg396His)

SNV
Germline

Chr22:40364361

Pathogenic/Likely pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA313112

rs_763542069

5 SubmittersRCV000186690 RCV000779373

NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)

SNV
Germline

Chr22:40364964

Pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

CA313115

rs_796052248

2 SubmittersRCV000186692 RCV001253786

NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)

SNV
Germline

Chr22:40364979

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA313118

rs_200814886

4 SubmittersRCV000186695 RCV000725224 RCV001489163

NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)

SNV
Germline

Chr22:40365027

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA313120

rs_777821034

5 SubmittersRCV000186696 RCV000763485

NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)

SNV
Germline

Chr22:40365037

Pathogenic/Likely pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA313145

rs_372895468

2 SubmittersRCV000186712 RCV001781543

NM_000026.4(ADSL):c.994G>C (p.Asp332His)

SNV
Unknown

Chr22:40361619

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_776496275

1 SubmittersRCV000990447

NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)

SNV
Germline

Chr22:40365030

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10247981

rs_771121666

6 SubmittersRCV000526230 RCV000224729 RCV002516223

NM_000026.4(ADSL):c.403-4G>A

SNV
Germline

Chr22:40354244

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10247715

rs_373652667

5 SubmittersRCV000227251 RCV000428118 RCV000710484

NM_000026.4(ADSL):c.270T>C (p.Ala90=)

SNV
Germline

Chr22:40349948

Conflicting classifications of pathogenicity

not specified
Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10247657

rs_143275316

5 SubmittersRCV000253583 RCV001088635 RCV000731094

NM_000026.4(ADSL):c.579G>C (p.Leu193=)

SNV
Germline

Chr22:40358960

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247759

rs_751928831

3 SubmittersRCV000349838 RCV001150921

NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)

SNV
Germline

Chr22:40361532

Pathogenic/Likely pathogenic

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10247868

rs_373458753

4 SubmittersRCV000293106 RCV000727198

NM_000026.4(ADSL):c.763C>T (p.Leu255=)

SNV
Germline

Chr22:40360463

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10247805

rs_771049726

3 SubmittersRCV000341448 RCV002261074

NM_000026.4(ADSL):c.1200T>C (p.His400=)

SNV
Germline

Chr22:40364888

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247962

rs_751401941

2 SubmittersRCV000407816

NM_000026.4(ADSL):c.-37C>G

SNV
Germline

Chr22:40346522

Conflicting classifications of pathogenicity

not specified
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247561

rs_372357778

2 SubmittersRCV000425428 RCV001861602

NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)

SNV
Germline

Chr22:40349931

Pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

CA16608180

rs_1036185928

4 SubmittersRCV000434653 RCV000679862

NM_000026.4(ADSL):c.926G>A (p.Arg309His)

SNV
Germline

Chr22:40361551

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247869

rs_749817666

2 SubmittersRCV000443295 RCV000465601

NM_000026.4(ADSL):c.793-5C>A

SNV
Germline

Chr22:40361268

Conflicting classifications of pathogenicity

not specified
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247832

rs_377164829

2 SubmittersRCV000427551 RCV002521728

NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp)

SNV
Germline

Chr22:40364294

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247929

rs_376533026

2 SubmittersRCV000427780 RCV000821230

NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)

SNV
Germline

Chr22:40364967

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247974

rs_758241731

2 SubmittersRCV000435716 RCV000696181

NM_000026.4(ADSL):c.20A>G (p.His7Arg)

SNV
Germline

Chr22:40346578

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10247585

rs_377248090

3 SubmittersRCV000436772 RCV001202411 RCV004022357

NM_000026.4(ADSL):c.563G>A (p.Arg188His)

SNV
Germline

Chr22:40358944

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247756

rs_761937276

2 SubmittersRCV000432475 RCV000473273

NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)

SNV
Germline

Chr22:40366467

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA16609100

rs_1057521071

2 SubmittersRCV000438014 RCV000688125

NM_000026.4(ADSL):c.153+1G>T

SNV
Germline

Chr22:40346712

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA411632938

rs_1555903969

3 SubmittersRCV000523755 RCV000610929 RCV002525131

NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)

SNV
Germline

Chr22:40361511

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10247865

rs_536254357

4 SubmittersRCV000521643 RCV001350739 RCV001814999 RCV002527600

NM_000026.4(ADSL):c.408C>T (p.Ala136=)

SNV
Germline

Chr22:40354253

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA10247718

rs_368166273

2 SubmittersRCV000596859 RCV001476772

NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)

SNV
Germline

Chr22:40346629

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA411632693

rs_1257907226

3 SubmittersRCV000634534 RCV002529825

NM_000026.4(ADSL):c.581G>A (p.Arg194His)

SNV
Germline

Chr22:40358962

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10247760

rs_755359802

3 SubmittersRCV000634539 RCV001269550

NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)

SNV
Germline

Chr22:40358931

Pathogenic

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1569096551

2 SubmittersRCV000707388 RCV004721573

NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter)

SNV
Germline

Chr22:40363065

Pathogenic/Likely pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_879257322

2 SubmittersRCV000760928 RCV002536581

NM_000026.4(ADSL):c.183A>C (p.Gln61His)

SNV
Germline

Chr22:40349861

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1601551862

2 SubmittersRCV000798632 RCV003325520

NM_000026.4(ADSL):c.402+1G>T

SNV
Germline

Chr22:40353118

Likely pathogenic

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_761551284

2 SubmittersRCV000810236 RCV003329344

NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)

SNV
Germline

Chr22:40360425

Pathogenic/Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1601586359

2 SubmittersRCV000990446

NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)

SNV
Germline

Chr22:40349946

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1601552154

1 SubmittersRCV000995690

NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)

SNV
Germline

Chr22:40361602

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_2044792794

1 SubmittersRCV001050339

NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)

SNV
Germline

Chr22:40364360

Pathogenic/Likely pathogenic

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_755492501

2 SubmittersRCV001039703 RCV001268745

NM_000026.4(ADSL):c.1102-6C>G

SNV
Germline

Chr22:40364270

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

rs_758666194

2 SubmittersRCV001064875

NM_000026.4(ADSL):c.1011-9G>C

SNV
Germline

Chr22:40362972

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

rs_780794164

2 SubmittersRCV001150924

NM_000026.4(ADSL):c.135G>A (p.Trp45Ter)

SNV
Germline

Chr22:40346693

Pathogenic

Adenylosuccinate lyase deficiency
ADSL-related disorder

Criteria Provided
Single Submitter

rs_774435749

2 SubmittersRCV001220597 RCV004756193

NM_000026.4(ADSL):c.701+1G>A

SNV
Germline

Chr22:40359307

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_546878201

1 SubmittersRCV001202658

NM_000026.4(ADSL):c.-49T>C

SNV
Germline

Chr22:40346510

Pathogenic/Likely pathogenic

Inborn genetic diseases
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_1272053459

3 SubmittersRCV001266879 RCV002221270

NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)

SNV
Germline

Chr22:40354267

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_563054392

1 SubmittersRCV001300027

NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)

SNV
Germline

Chr22:40354284

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_746180694

3 SubmittersRCV001330906 RCV004035707

NM_000026.4(ADSL):c.502G>A (p.Val168Ile)

SNV
Germline

Chr22:40358883

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1385675650

3 SubmittersRCV001330907 RCV001509099

NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)

SNV
Germline

Chr22:40350019

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1035500320

1 SubmittersRCV001366584

NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)

SNV
Germline

Chr22:40361282

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_746501563

3 SubmittersRCV001382689

NM_000026.4(ADSL):c.829G>T (p.Glu277Ter)

SNV
Germline

Chr22:40361309

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_2044777708

1 SubmittersRCV001384334

NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)

SNV
Germline

Chr22:40363058

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

rs_758895348

2 SubmittersRCV001550362 RCV002570686

NM_000026.4(ADSL):c.358-1G>C

SNV
Germline

Chr22:40353072

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_2146634231

1 SubmittersRCV001785896

NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)

SNV
Germline

Chr22:40364279

Conflicting classifications of pathogenicity

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

rs_752104617

2 SubmittersRCV001786850 RCV002034624

NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)

SNV
Germline

Chr22:40364910

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_747964752

2 SubmittersRCV001950883

NM_000026.4(ADSL):c.357+1G>A

SNV
Germline

Chr22:40350036

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1275901345

1 SubmittersRCV002017498

NM_000026.4(ADSL):c.1090G>A (p.Val364Met)

SNV
Germline

Chr22:40363060

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_370851726

1 SubmittersRCV001971171

NM_000026.4(ADSL):c.628C>T (p.Gln210Ter)

SNV
Germline

Chr22:40359009

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1410270058

1 SubmittersRCV002037760

NM_000026.4(ADSL):c.733C>T (p.Arg245Ter)

SNV
Germline

Chr22:40360433

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_2146658733

1 SubmittersRCV001942110

NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)

SNV
Germline

Chr22:40346569

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_766546584

2 SubmittersRCV002038035 RCV004043243

NM_000026.4(ADSL):c.702-2A>G

SNV
Germline

Chr22:40360400

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1268264761

1 SubmittersRCV002030152

NM_000026.4(ADSL):c.151C>T (p.Gln51Ter)

SNV
Germline

Chr22:40346709

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1193437955

1 SubmittersRCV001956156

NM_000026.4(ADSL):c.78G>A (p.Met26Ile)

SNV
Germline

Chr22:40346636

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_779612414

1 SubmittersRCV001918325

NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)

SNV
Germline

Chr22:40358961

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1465152683

2 SubmittersRCV002010959 RCV004591694

NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)

SNV
Germline

Chr22:40365043

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_775671027

1 SubmittersRCV002010963

NM_000026.4(ADSL):c.1191+5G>C

SNV
Germline

Chr22:40364370

Pathogenic

Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_773404017

2 SubmittersRCV002254977 RCV003603114

NM_000026.4(ADSL):c.802G>C (p.Asp268His)

SNV
Germline

Chr22:40361282

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003064660

NM_000026.4(ADSL):c.445C>T (p.Arg149Ter)

SNV
Germline

Chr22:40354290

Pathogenic/Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003072072

NM_000026.4(ADSL):c.701+1G>T

SNV
Germline

Chr22:40359307

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002726026

NM_000026.4(ADSL):c.403-1G>C

SNV
Germline

Chr22:40354247

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV002847106

NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)

SNV
Germline

Chr22:40365042

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003007416

NM_000026.4(ADSL):c.482+1G>C

SNV
Germline

Chr22:40354328

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003236504

NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)

SNV
Germline

Chr22:40358949

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003499623

NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter)

SNV
Germline

Chr22:40365003

Pathogenic/Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003499624

NM_000026.4(ADSL):c.1010+1G>C

SNV
Germline

Chr22:40361636

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003603277