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	18 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 Condition: not provided ADSL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115569	rs_119450944	5 SubmittersRCV000002570 RCV002280090 RCV003398421
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 Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Conflicting Classifications	CA233448	rs_201509960	3 SubmittersRCV000186673 RCV000723924 RCV001081511
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)	SNV Germline	Chr22:40349925	Conflicting classifications of pathogenicity	Adenylosuccinate lyase deficiency Condition: not provided	Criteria Provided Conflicting Classifications	CA241261	rs_780425464	4 SubmittersRCV000527728 RCV000723817
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 Progressive neurologic deterioration Inability to walk Difficulty standing Severe global developmental delay Generalized myoclonic seizure Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA206321	rs_374259530	8 SubmittersRCV000186703 RCV000193076 RCV000415212 RCV002513975
NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)	SNV Germline	Chr22:40354266	Pathogenic/Likely pathogenic	Severe global developmental delay Progressive neurologic deterioration Inability to walk Difficulty standing Generalized myoclonic seizure Condition: not provided Adenylosuccinate lyase deficiency	Criteria Provided Multiple Submitters No Conflicts	CA313144	rs_756210458	4 SubmittersRCV000415081 RCV000186711 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	5 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	Condition: not provided Adenylosuccinate lyase deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA10247981	rs_771121666	6 SubmittersRCV000224729 RCV000526230 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.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.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 Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA10247865	rs_536254357	4 SubmittersRCV000521643 RCV001350739 RCV002527600 RCV001814999
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	Criteria Provided Single Submitter		rs_1569096551	1 SubmittersRCV000707388
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	Criteria Provided Single Submitter		rs_774435749	1 SubmittersRCV001220597
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	Likely pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter		rs_1465152683	1 SubmittersRCV002010959
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	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter			1 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.1315C>T (p.Gln439Ter)	SNV Germline	Chr22:40365003	Pathogenic	Adenylosuccinate lyase deficiency	Criteria Provided Single Submitter			1 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

18 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
Condition: not provided
ADSL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115569

rs_119450944

5 SubmittersRCV000002570 RCV002280090 RCV003398421

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
Condition: not provided
Adenylosuccinate lyase deficiency

Criteria Provided
Conflicting Classifications

CA233448

rs_201509960

3 SubmittersRCV000186673 RCV000723924 RCV001081511

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

SNV
Germline

Chr22:40349925

Conflicting classifications of pathogenicity

Adenylosuccinate lyase deficiency
Condition: not provided

Criteria Provided
Conflicting Classifications

CA241261

rs_780425464

4 SubmittersRCV000527728 RCV000723817

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
Progressive neurologic deterioration
Inability to walk
Difficulty standing
Severe global developmental delay
Generalized myoclonic seizure
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA206321

rs_374259530

8 SubmittersRCV000186703 RCV000193076 RCV000415212 RCV002513975

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

SNV
Germline

Chr22:40354266

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA313144

rs_756210458

4 SubmittersRCV000415081 RCV000186711 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

5 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

Condition: not provided
Adenylosuccinate lyase deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA10247981

rs_771121666

6 SubmittersRCV000224729 RCV000526230 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.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.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
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA10247865

rs_536254357

4 SubmittersRCV000521643 RCV001350739 RCV002527600 RCV001814999

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

Criteria Provided
Single Submitter

rs_1569096551

1 SubmittersRCV000707388

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

Criteria Provided
Single Submitter

rs_774435749

1 SubmittersRCV001220597

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

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

rs_1465152683

1 SubmittersRCV002010959

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

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 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.1315C>T (p.Gln439Ter)

SNV
Germline

Chr22:40365003

Pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003499624

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

SNV
Germline

Chr22:40361636

Likely pathogenic

Adenylosuccinate lyase deficiency

Criteria Provided
Single Submitter

1 SubmittersRCV003603277