Adsl Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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882 records found for search term Adsl

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
8556829	CV17506	single nucleotide variant	ADSL, -49T-C, PROMOTER	Adenylosuccinate lyase deficiency [RCV000002571]	pathogenic				Human		name
12835656	CV378717	single nucleotide variant	NM_000026.4(ADSL):c.-8G>A	not specified [RCV000422058]	likely benign	22	40346551	40346551	Human		name
126771626	CV1014614	single nucleotide variant	NM_000026.4(ADSL):c.-12C>T	Adenylosuccinate lyase deficiency [RCV001323269]	uncertain significance	22	40346547	40346547	Human	1	name , alternate_id
150484832	CV1280574	single nucleotide variant	NM_000026.4(ADSL):c.*20G>A	not provided [RCV001715463]	likely benign	22	40366542	40366542	Human		name
151757140	CV1340347	single nucleotide variant	NM_000026.4(ADSL):c.-56T>A	Adenylosuccinate lyase deficiency [RCV001913565]	uncertain significance	22	40346503	40346503	Human	1	name , alternate_id
151739756	CV1379439	single nucleotide variant	NM_000026.4(ADSL):c.-44C>G	Adenylosuccinate lyase deficiency [RCV001911814]	uncertain significance	22	40346515	40346515	Human	1	name , alternate_id
151732593	CV1386388	single nucleotide variant	NM_000026.4(ADSL):c.-27C>A	Adenylosuccinate lyase deficiency [RCV001911033]	uncertain significance	22	40346532	40346532	Human	1	name , alternate_id
151732683	CV1386426	single nucleotide variant	NM_000026.4(ADSL):c.-35G>C	Adenylosuccinate lyase deficiency [RCV001911041]	uncertain significance	22	40346524	40346524	Human	1	name , alternate_id
151874821	CV1388231	single nucleotide variant	NM_000026.4(ADSL):c.-18C>A	Adenylosuccinate lyase deficiency [RCV001981766]	uncertain significance	22	40346541	40346541	Human	1	name , alternate_id
151855881	CV1401798	single nucleotide variant	NM_000026.4(ADSL):c.-32C>T	Adenylosuccinate lyase deficiency [RCV002017170]	uncertain significance	22	40346527	40346527	Human	1	name , alternate_id
151736742	CV1429287	single nucleotide variant	NM_000026.4(ADSL):c.-11G>T	Adenylosuccinate lyase deficiency [RCV002021896]	uncertain significance	22	40346548	40346548	Human	1	name , alternate_id
151749296	CV1487512	single nucleotide variant	NM_000026.4(ADSL):c.-20G>T	Adenylosuccinate lyase deficiency [RCV001947971]	uncertain significance	22	40346539	40346539	Human	1	name , alternate_id
151749663	CV1512027	single nucleotide variant	NM_000026.4(ADSL):c.-31C>T	Adenylosuccinate lyase deficiency [RCV001986150]	uncertain significance	22	40346528	40346528	Human	1	name , alternate_id
152141967	CV1586416	single nucleotide variant	NM_000026.4(ADSL):c.-23C>T	Adenylosuccinate lyase deficiency [RCV002178175]	benign	22	40346536	40346536	Human	1	name , alternate_id
156406783	CV1891347	single nucleotide variant	NM_000026.4(ADSL):c.-37C>T	Adenylosuccinate lyase deficiency [RCV003070495]	uncertain significance	22	40346522	40346522	Human	1	name , alternate_id
156057508	CV2023995	single nucleotide variant	NM_000026.4(ADSL):c.-10C>G	Adenylosuccinate lyase deficiency [RCV002736719]	uncertain significance	22	40346549	40346549	Human	1	name , alternate_id
156266309	CV2030478	single nucleotide variant	NM_000026.4(ADSL):c.-21T>A	Adenylosuccinate lyase deficiency [RCV002746484]	uncertain significance	22	40346538	40346538	Human	1	name , alternate_id
10395547	CV203833	single nucleotide variant	NM_000026.4(ADSL):c.-35G>A	not provided [RCV000186713]	uncertain significance	22	40346524	40346524	Human		name
10395548	CV203834	single nucleotide variant	NM_000026.4(ADSL):c.-22C>T	not provided [RCV000186714]	uncertain significance	22	40346537	40346537	Human		name
156208081	CV2103868	single nucleotide variant	NM_000026.4(ADSL):c.-15G>A	Adenylosuccinate lyase deficiency [RCV002931944]	uncertain significance	22	40346544	40346544	Human	1	name , alternate_id
155909467	CV2156831	single nucleotide variant	NM_000026.4(ADSL):c.-51G>A	Adenylosuccinate lyase deficiency [RCV003012144]	uncertain significance	22	40346508	40346508	Human	1	name , alternate_id
11627190	CV351611	single nucleotide variant	NM_000026.4(ADSL):c.-35G>T	Adenylosuccinate lyase deficiency [RCV000277016]	uncertain significance	22	40346524	40346524	Human	1	name , alternate_id
11630906	CV352563	single nucleotide variant	NM_000026.4(ADSL):c.*45A>T	Adenylosuccinate lyase deficiency [RCV000362664]	uncertain significance	22	40366567	40366567	Human	1	name , alternate_id
12837590	CV377503	single nucleotide variant	NM_000026.4(ADSL):c.-37C>G	Adenylosuccinate lyase deficiency [RCV001861602]\|not specified [RCV000425428]	likely benign\|uncertain significance	22	40346522	40346522	Human	1	name , alternate_id
28873306	CV891310	single nucleotide variant	NM_000026.4(ADSL):c.-29G>C	Adenylosuccinate lyase deficiency [RCV001146693]	uncertain significance	22	40346530	40346530	Human	1	name , alternate_id
40887341	CV974242	single nucleotide variant	NM_000026.4(ADSL):c.-49T>C	Adenylosuccinate lyase deficiency [RCV002221270]\|Inborn genetic diseases [RCV001266879]	pathogenic\|likely pathogenic	22	40346510	40346510	Human	2	name , alternate_id
126757444	CV1035207	single nucleotide variant	NM_000026.4(ADSL):c.357+4G>A	Adenylosuccinate lyase deficiency [RCV001339567]	uncertain significance	22	40350039	40350039	Human	1	name , alternate_id
127319527	CV1150147	single nucleotide variant	NM_000026.4(ADSL):c.482+9T>C	Adenylosuccinate lyase deficiency [RCV001504050]	likely benign	22	40354336	40354336	Human	1	name , alternate_id
150520683	CV1289853	single nucleotide variant	NM_000026.4(ADSL):c.357+7G>T	Adenylosuccinate lyase deficiency [RCV002073416]\|not provided [RCV001730224]	likely benign	22	40350042	40350042	Human	1	name , alternate_id
150548113	CV1314143	single nucleotide variant	NM_000026.4(ADSL):c.358-1G>C	Adenylosuccinate lyase deficiency [RCV001785896]	likely pathogenic	22	40353072	40353072	Human	1	name , alternate_id
8658871	CV133726	single nucleotide variant	NM_000026.4(ADSL):c.358-4G>A	Adenylosuccinate lyase deficiency [RCV000233479]\|not provided [RCV000710483]\|not specified [RCV000116238]	likely pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity	22	40353069	40353069	Human	1	name , alternate_id
151858772	CV1398347	single nucleotide variant	NM_000026.4(ADSL):c.357+1G>A	Adenylosuccinate lyase deficiency [RCV002017498]	likely pathogenic	22	40350036	40350036	Human	1	name , alternate_id
8690061	CV140011	single nucleotide variant	NM_000026.4(ADSL):c.357+6C>T	Adenylosuccinate lyase deficiency [RCV000289803]\|not provided [RCV000710482]\|not specified [RCV000123547]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40350041	40350041	Human	1	name , alternate_id
8690062	CV140012	single nucleotide variant	NM_000026.4(ADSL):c.357+7G>A	Adenylosuccinate lyase deficiency [RCV000347351]\|not provided [RCV000726640]\|not specified [RCV000123548]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40350042	40350042	Human	1	name , alternate_id
151788531	CV1403329	single nucleotide variant	NM_000026.4(ADSL):c.792+5G>C	Adenylosuccinate lyase deficiency [RCV001916584]	uncertain significance	22	40360497	40360497	Human	1	name , alternate_id
151823823	CV1456670	single nucleotide variant	NM_000026.4(ADSL):c.702-2A>G	Adenylosuccinate lyase deficiency [RCV002030152]	likely pathogenic	22	40360400	40360400	Human	1	name , alternate_id
151751468	CV1464146	single nucleotide variant	NM_000026.4(ADSL):c.402+6G>A	Adenylosuccinate lyase deficiency [RCV001948178]	uncertain significance	22	40353123	40353123	Human	1	name , alternate_id
152164198	CV1557524	single nucleotide variant	NM_000026.4(ADSL):c.702-7T>A	Adenylosuccinate lyase deficiency [RCV002141471]	likely benign	22	40360395	40360395	Human	1	name , alternate_id
152160894	CV1568568	single nucleotide variant	NM_000026.4(ADSL):c.655-9C>G	Adenylosuccinate lyase deficiency [RCV002203411]	likely benign	22	40359251	40359251	Human	1	name , alternate_id
152087406	CV1601222	single nucleotide variant	NM_000026.4(ADSL):c.793-4C>T	Adenylosuccinate lyase deficiency [RCV002093682]	likely benign	22	40361269	40361269	Human	1	name , alternate_id
152036243	CV1636310	single nucleotide variant	NM_000026.4(ADSL):c.403-7C>T	Adenylosuccinate lyase deficiency [RCV002107028]	likely benign	22	40354241	40354241	Human	1	name , alternate_id
9692667	CV177473	single nucleotide variant	NM_000026.4(ADSL):c.702-7T>C	Adenylosuccinate lyase deficiency [RCV001081511]\|not provided [RCV000723924]\|not specified [RCV000186673]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40360395	40360395	Human	1	name , alternate_id
156363465	CV1895498	single nucleotide variant	NM_000026.4(ADSL):c.701+3A>G	Adenylosuccinate lyase deficiency [RCV003091874]	uncertain significance	22	40359309	40359309	Human	1	name , alternate_id
156401276	CV2013382	single nucleotide variant	NM_000026.4(ADSL):c.701+1G>T	Adenylosuccinate lyase deficiency [RCV002726026]	pathogenic	22	40359307	40359307	Human	1	name , alternate_id
10395524	CV203847	single nucleotide variant	NM_000026.4(ADSL):c.702-5C>G	Adenylosuccinate lyase deficiency [RCV002603257]	likely benign\|uncertain significance	22	40360397	40360397	Human	1	name , alternate_id
156072163	CV2065814	single nucleotide variant	NM_000026.4(ADSL):c.403-1G>C	Adenylosuccinate lyase deficiency [RCV002847106]	likely pathogenic	22	40354247	40354247	Human	1	name , alternate_id
156044325	CV2071830	single nucleotide variant	NM_000026.4(ADSL):c.482+3A>T	Adenylosuccinate lyase deficiency [RCV002846218]	uncertain significance	22	40354330	40354330	Human	1	name , alternate_id
156094419	CV2087676	single nucleotide variant	NM_000026.4(ADSL):c.701+7A>C	Adenylosuccinate lyase deficiency [RCV002847840]	likely benign	22	40359313	40359313	Human	1	name , alternate_id
156076915	CV2141799	single nucleotide variant	NM_000026.4(ADSL):c.153+7G>C	Adenylosuccinate lyase deficiency [RCV002979122]	likely benign	22	40346718	40346718	Human	1	name , alternate_id
156122297	CV2148027	single nucleotide variant	NM_000026.4(ADSL):c.403-5T>C	Adenylosuccinate lyase deficiency [RCV003003030]	likely benign\|uncertain significance	22	40354243	40354243	Human	1	name , alternate_id
156183891	CV2163839	deletion	NM_000026.4(ADSL):c.403-7del	Adenylosuccinate lyase deficiency [RCV003023913]	likely benign	22	40354241	40354241	Human	1	name , alternate_id
11346074	CV243715	single nucleotide variant	NM_000026.4(ADSL):c.403-4G>A	Adenylosuccinate lyase deficiency [RCV000227251]\|not provided [RCV000710484]\|not specified [RCV000428118]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40354244	40354244	Human	1	name , alternate_id
329955285	CV2671229	single nucleotide variant	NM_000026.4(ADSL):c.482+1G>C	Adenylosuccinate lyase deficiency [RCV003236504]	likely pathogenic	22	40354328	40354328	Human	1	name , alternate_id
11641455	CV267588	single nucleotide variant	NM_000026.4(ADSL):c.482+8A>G	Adenylosuccinate lyase deficiency [RCV000459291]\|not provided [RCV000356986]	uncertain significance	22	40354335	40354335	Human	1	name , alternate_id
11638855	CV268966	single nucleotide variant	NM_000026.4(ADSL):c.482+5G>A	not provided [RCV000311211]	uncertain significance	22	40354332	40354332	Human		name
405105379	CV2860989	single nucleotide variant	NM_000026.4(ADSL):c.862+9T>C	Adenylosuccinate lyase deficiency [RCV003498106]	likely benign	22	40361351	40361351	Human	1	name , alternate_id
12838755	CV378723	single nucleotide variant	NM_000026.4(ADSL):c.793-5C>A	Adenylosuccinate lyase deficiency [RCV002521728]\|not provided [RCV005243230]\|not specified [RCV000427551]	likely benign\|uncertain significance	22	40361268	40361268	Human	1	name , alternate_id
12847547	CV378804	single nucleotide variant	NM_000026.4(ADSL):c.153+7G>A	Adenylosuccinate lyase deficiency [RCV002060063]\|not specified [RCV000443684]	likely benign	22	40346718	40346718	Human	1	name , alternate_id
12846898	CV378810	single nucleotide variant	NM_000026.4(ADSL):c.358-5C>T	Adenylosuccinate lyase deficiency [RCV002062641]\|not specified [RCV000442525]	likely benign	22	40353068	40353068	Human	1	name , alternate_id
597847113	CV3823947	single nucleotide variant	NM_000026.4(ADSL):c.402+8G>T	Adenylosuccinate lyase deficiency [RCV005173186]	likely benign	22	40353125	40353125	Human	1	name , alternate_id
597838072	CV3828913	single nucleotide variant	NM_000026.4(ADSL):c.358-9C>T	Adenylosuccinate lyase deficiency [RCV005171606]	likely benign	22	40353064	40353064	Human	1	name , alternate_id
597842780	CV3831087	single nucleotide variant	NM_000026.4(ADSL):c.357+7G>C	Adenylosuccinate lyase deficiency [RCV005172468]	likely benign	22	40350042	40350042	Human	1	name , alternate_id
13489020	CV446418	single nucleotide variant	NM_000026.4(ADSL):c.153+1G>T	Adenylosuccinate lyase deficiency [RCV002525131]\|not provided [RCV000523755]\|not specified [RCV000610929]	pathogenic\|likely pathogenic\|uncertain significance	22	40346712	40346712	Human	1	name , alternate_id
13499836	CV471596	deletion	NM_000026.4(ADSL):c.154-7del	Adenylosuccinate lyase deficiency [RCV000534398]	likely benign\|uncertain significance	22	40349824	40349824	Human	1	name , alternate_id
13530396	CV507698	single nucleotide variant	NM_000026.4(ADSL):c.792+8G>T	Adenylosuccinate lyase deficiency [RCV005091658]\|not specified [RCV000600686]	likely benign	22	40360500	40360500	Human	1	name , alternate_id
14708755	CV653724	single nucleotide variant	NM_000026.4(ADSL):c.402+1G>T	Adenylosuccinate lyase deficiency [RCV000810236]\|not provided [RCV003329344]	likely pathogenic	22	40353118	40353118	Human	1	name , alternate_id
15151085	CV731424	single nucleotide variant	NM_000026.4(ADSL):c.154-9A>G	Adenylosuccinate lyase deficiency [RCV000879521]	likely benign	22	40349823	40349823	Human	1	name , alternate_id
15164231	CV760780	single nucleotide variant	NM_000026.4(ADSL):c.403-7C>A	Adenylosuccinate lyase deficiency [RCV001410890]	likely benign	22	40354241	40354241	Human	1	name , alternate_id
26892362	CV852940	single nucleotide variant	NM_000026.4(ADSL):c.793-3C>T	Adenylosuccinate lyase deficiency [RCV001046900]	uncertain significance	22	40361270	40361270	Human	1	name , alternate_id
28885630	CV891839	single nucleotide variant	NM_000026.4(ADSL):c.702-3T>A	Adenylosuccinate lyase deficiency [RCV001150922]	uncertain significance	22	40360399	40360399	Human	1	name , alternate_id
38470777	CV940534	single nucleotide variant	NM_000026.4(ADSL):c.701+1G>A	Adenylosuccinate lyase deficiency [RCV001202658]	pathogenic\|likely pathogenic	22	40359307	40359307	Human	1	name , alternate_id
38459784	CV960968	single nucleotide variant	NM_000026.4(ADSL):c.403-3T>C	Adenylosuccinate lyase deficiency [RCV001246622]	uncertain significance	22	40354245	40354245	Human	1	name , alternate_id
126744788	CV999476	single nucleotide variant	NM_000026.4(ADSL):c.792+6T>C	Adenylosuccinate lyase deficiency [RCV001305891]	uncertain significance	22	40360498	40360498	Human	1	name , alternate_id
126747574	CV1014621	single nucleotide variant	NM_000026.4(ADSL):c.1102-4A>G	Adenylosuccinate lyase deficiency [RCV001326174]	likely benign\|uncertain significance	22	40364272	40364272	Human	1	name , alternate_id
127233982	CV1086025	single nucleotide variant	NM_000026.4(ADSL):c.1102-7C>T	Adenylosuccinate lyase deficiency [RCV001396334]	likely benign	22	40364269	40364269	Human	1	name , alternate_id
127293216	CV1159189	deletion	NM_000026.4(ADSL):c.1011-5del	Adenylosuccinate lyase deficiency [RCV001511240]	benign	22	40362973	40362973	Human	1	name , alternate_id
150439798	CV1221358	single nucleotide variant	NM_000026.4(ADSL):c.1192-5C>T	Adenylosuccinate lyase deficiency [RCV002072914]\|not provided [RCV001610053]	likely benign	22	40364875	40364875	Human	1	name , alternate_id
151845440	CV1341721	single nucleotide variant	NM_000026.4(ADSL):c.357+10T>G	Adenylosuccinate lyase deficiency [RCV001922050]	likely benign	22	40350045	40350045	Human	1	name , alternate_id
151715883	CV1441753	single nucleotide variant	NM_000026.4(ADSL):c.1368+4A>C	Adenylosuccinate lyase deficiency [RCV002002918]	uncertain significance	22	40365060	40365060	Human	1	name , alternate_id
152027728	CV1529554	single nucleotide variant	NM_000026.4(ADSL):c.655-11T>G	Adenylosuccinate lyase deficiency [RCV002185599]	likely benign	22	40359249	40359249	Human	1	name , alternate_id
152050707	CV1533255	single nucleotide variant	NM_000026.4(ADSL):c.702-15T>C	Adenylosuccinate lyase deficiency [RCV002166841]	likely benign	22	40360387	40360387	Human	1	name , alternate_id
152084360	CV1537461	single nucleotide variant	NM_000026.4(ADSL):c.153+12C>T	Adenylosuccinate lyase deficiency [RCV002149725]	likely benign	22	40346723	40346723	Human	1	name , alternate_id
152115225	CV1537506	single nucleotide variant	NM_000026.4(ADSL):c.153+10C>A	Adenylosuccinate lyase deficiency [RCV002135010]	likely benign	22	40346721	40346721	Human	1	name , alternate_id
152073869	CV1556729	single nucleotide variant	NM_000026.4(ADSL):c.153+19A>G	Adenylosuccinate lyase deficiency [RCV002111830]	likely benign	22	40346730	40346730	Human	1	name , alternate_id
152047021	CV1580166	single nucleotide variant	NM_000026.4(ADSL):c.1191+8A>T	Adenylosuccinate lyase deficiency [RCV002166393]	likely benign	22	40364373	40364373	Human	1	name , alternate_id
152127973	CV1596475	single nucleotide variant	NM_000026.4(ADSL):c.482+16A>C	Adenylosuccinate lyase deficiency [RCV002118702]	likely benign	22	40354343	40354343	Human	1	name , alternate_id
152044451	CV1622011	single nucleotide variant	NM_000026.4(ADSL):c.153+17T>C	Adenylosuccinate lyase deficiency [RCV002108168]	likely benign	22	40346728	40346728	Human	1	name , alternate_id
152157581	CV1629906	single nucleotide variant	NM_000026.4(ADSL):c.402+18G>A	Adenylosuccinate lyase deficiency [RCV002202860]	likely benign	22	40353135	40353135	Human	1	name , alternate_id
152074571	CV1630232	single nucleotide variant	NM_000026.4(ADSL):c.702-19C>G	Adenylosuccinate lyase deficiency [RCV002169732]	likely benign	22	40360383	40360383	Human	1	name , alternate_id
152130000	CV1630878	single nucleotide variant	NM_000026.4(ADSL):c.862+13T>C	Adenylosuccinate lyase deficiency [RCV002118959]	likely benign	22	40361355	40361355	Human	1	name , alternate_id
152107231	CV1657275	single nucleotide variant	NM_000026.4(ADSL):c.863-18C>T	Adenylosuccinate lyase deficiency [RCV002214981]	likely benign	22	40361470	40361470	Human	1	name , alternate_id
153001106	CV1684050	single nucleotide variant	NM_000026.4(ADSL):c.1191+5G>C	Adenylosuccinate lyase deficiency [RCV003603114]\|not provided [RCV002254977]	pathogenic\|likely pathogenic	22	40364370	40364370	Human	2	name , alternate_id
153001106	CV1684050	single nucleotide variant	NM_000026.4(ADSL):c.1191+5G>C	Adenylosuccinate lyase deficiency [RCV003603114]\|not provided [RCV002254977]	pathogenic\|likely pathogenic	22	40364370	40364371	Human	2	name , alternate_id
10049916	CV191128	single nucleotide variant	NM_000026.4(ADSL):c.1368+3A>G	not provided [RCV000174208]	uncertain significance	22	40365059	40365059	Human		name
156214091	CV1914216	single nucleotide variant	NM_000026.4(ADSL):c.483-19G>A	Adenylosuccinate lyase deficiency [RCV002596184]	likely benign	22	40358845	40358845	Human	1	name , alternate_id
156298878	CV1919843	single nucleotide variant	NM_000026.4(ADSL):c.403-16A>G	Adenylosuccinate lyase deficiency [RCV002599072]	likely benign	22	40354232	40354232	Human	1	name , alternate_id
156303516	CV1934591	single nucleotide variant	NM_000026.4(ADSL):c.153+16C>G	Adenylosuccinate lyase deficiency [RCV002647762]	likely benign	22	40346727	40346727	Human	1	name , alternate_id
10397280	CV203842	single nucleotide variant	NM_000026.3(ADSL):c.403-10T>G	not specified [RCV000186715]	uncertain significance	22	40354238	40354238	Human		name
156016943	CV2061675	single nucleotide variant	NM_000026.4(ADSL):c.482+16A>T	Adenylosuccinate lyase deficiency [RCV002820420]	likely benign	22	40354343	40354343	Human	1	name , alternate_id
156227832	CV2064447	single nucleotide variant	NM_000026.4(ADSL):c.153+18G>A	Adenylosuccinate lyase deficiency [RCV002829935]	likely benign	22	40346729	40346729	Human	1	name , alternate_id
156230650	CV2122028	single nucleotide variant	NM_000026.4(ADSL):c.793-11A>G	Adenylosuccinate lyase deficiency [RCV002958496]	likely benign	22	40361262	40361262	Human	1	name , alternate_id
156031403	CV2142062	single nucleotide variant	NM_000026.4(ADSL):c.792+15C>T	Adenylosuccinate lyase deficiency [RCV002976622]	likely benign	22	40360507	40360507	Human	1	name , alternate_id
405113215	CV2882354	single nucleotide variant	NM_000026.4(ADSL):c.153+10C>G	Adenylosuccinate lyase deficiency [RCV003499675]	likely benign	22	40346721	40346721	Human	1	name , alternate_id
405114549	CV2893744	duplication	NM_000026.4(ADSL):c.863-11dup	Adenylosuccinate lyase deficiency [RCV003499795]	benign	22	40361470	40361471	Human	1	name , alternate_id
405050396	CV2938258	single nucleotide variant	NM_000026.4(ADSL):c.1010+1G>C	Adenylosuccinate lyase deficiency [RCV003603277]	likely pathogenic	22	40361636	40361636	Human	1	name , alternate_id
405048153	CV2943435	single nucleotide variant	NM_000026.4(ADSL):c.154-12C>T	Adenylosuccinate lyase deficiency [RCV003603191]	likely benign	22	40349820	40349820	Human	1	name , alternate_id
405047449	CV2947033	single nucleotide variant	NM_000026.4(ADSL):c.793-13C>T	Adenylosuccinate lyase deficiency [RCV003603223]	likely benign	22	40361260	40361260	Human	1	name , alternate_id
404990342	CV2994304	single nucleotide variant	NM_000026.4(ADSL):c.792+17T>C	Adenylosuccinate lyase deficiency [RCV003604452]	likely benign	22	40360509	40360509	Human	1	name , alternate_id
404994561	CV3016406	single nucleotide variant	NM_000026.4(ADSL):c.793-19A>C	Adenylosuccinate lyase deficiency [RCV003604931]	likely benign	22	40361254	40361254	Human	1	name , alternate_id
404999137	CV3018366	single nucleotide variant	NM_000026.4(ADSL):c.701+16T>A	Adenylosuccinate lyase deficiency [RCV003605043]	likely benign	22	40359322	40359322	Human	1	name , alternate_id
405040648	CV3020086	single nucleotide variant	NM_000026.4(ADSL):c.483-13T>C	Adenylosuccinate lyase deficiency [RCV003602628]	likely benign	22	40358851	40358851	Human	1	name , alternate_id
405051432	CV3056409	single nucleotide variant	NM_000026.4(ADSL):c.483-14C>T	Adenylosuccinate lyase deficiency [RCV003603537]	likely benign	22	40358850	40358850	Human	1	name , alternate_id
404984232	CV3065245	single nucleotide variant	NM_000026.4(ADSL):c.655-14C>A	Adenylosuccinate lyase deficiency [RCV003603725]	likely benign	22	40359246	40359246	Human	1	name , alternate_id
404985076	CV3073121	single nucleotide variant	NM_000026.4(ADSL):c.863-12T>C	Adenylosuccinate lyase deficiency [RCV003603844]	likely benign	22	40361476	40361476	Human	1	name , alternate_id
405132774	CV3115210	single nucleotide variant	NM_000026.4(ADSL):c.402+12G>C	Adenylosuccinate lyase deficiency [RCV003816055]	likely benign	22	40353129	40353129	Human	1	name , alternate_id
405203724	CV3144011	single nucleotide variant	NM_000026.4(ADSL):c.862+14A>G	Adenylosuccinate lyase deficiency [RCV003844801]	likely benign	22	40361356	40361356	Human	1	name , alternate_id
402474682	CV3182795	single nucleotide variant	NM_000026.4(ADSL):c.655-16G>C	Adenylosuccinate lyase deficiency [RCV003875039]	likely benign	22	40359244	40359244	Human	1	name , alternate_id
12834035	CV377529	single nucleotide variant	NM_000026.4(ADSL):c.483-15T>C	not specified [RCV000419638]	likely benign	22	40358849	40358849	Human		name
597874159	CV3775453	single nucleotide variant	NM_000026.4(ADSL):c.792+18G>C	Adenylosuccinate lyase deficiency [RCV005123183]	likely benign	22	40360510	40360510	Human	1	name , alternate_id
12839341	CV378720	single nucleotide variant	NM_000026.4(ADSL):c.403-11C>T	not specified [RCV000428637]	likely benign	22	40354237	40354237	Human		name
12838900	CV378730	single nucleotide variant	NM_000026.4(ADSL):c.1191+9C>T	ADSL-related disorder [RCV003912727]\|Adenylosuccinate lyase deficiency [RCV000865875]\|not provided [RCV001704325]	likely benign	22	40364374	40364374	Human	1	name , trait , alternate_id
12843363	CV379855	single nucleotide variant	NM_000026.4(ADSL):c.153+11C>G	not specified [RCV000436089]	likely benign	22	40346722	40346722	Human		name
597937438	CV3807845	single nucleotide variant	NM_000026.4(ADSL):c.482+17C>T	Adenylosuccinate lyase deficiency [RCV005158224]	likely benign	22	40354344	40354344	Human	1	name , alternate_id
597880823	CV3826438	single nucleotide variant	NM_000026.4(ADSL):c.402+15G>A	Adenylosuccinate lyase deficiency [RCV005178135]	likely benign	22	40353132	40353132	Human	1	name , alternate_id
597912249	CV3834236	single nucleotide variant	NM_000026.4(ADSL):c.701+17G>A	Adenylosuccinate lyase deficiency [RCV005182998]	likely benign	22	40359323	40359323	Human	1	name , alternate_id
597962157	CV3840916	single nucleotide variant	NM_000026.4(ADSL):c.153+15G>A	Adenylosuccinate lyase deficiency [RCV005193209]	likely benign	22	40346726	40346726	Human	1	name , alternate_id
12898631	CV411020	deletion	NM_000026.4(ADSL):c.1368+8del	Adenylosuccinate lyase deficiency [RCV000873236]\|not specified [RCV000478334]	likely benign	22	40365063	40365063	Human	1	name , alternate_id
13533380	CV507594	single nucleotide variant	NM_000026.4(ADSL):c.863-20T>G	Adenylosuccinate lyase deficiency [RCV002066609]\|not specified [RCV000607072]	likely benign	22	40361468	40361468	Human	1	name , alternate_id
13525605	CV508416	single nucleotide variant	NM_000026.4(ADSL):c.1369-7C>G	Adenylosuccinate lyase deficiency [RCV003105990]\|not specified [RCV000603303]	likely benign	22	40366429	40366429	Human	1	name , alternate_id
14712819	CV653725	single nucleotide variant	NM_000026.4(ADSL):c.1011-3T>C	Adenylosuccinate lyase deficiency [RCV000822000]	uncertain significance	22	40362978	40362978	Human	1	name , alternate_id
14713817	CV669673	single nucleotide variant	NM_000026.4(ADSL):c.863-11T>C	Adenylosuccinate lyase deficiency [RCV002062226]\|not provided [RCV000828825]	likely benign	22	40361477	40361477	Human	1	name , alternate_id
14717405	CV670672	single nucleotide variant	NM_000026.4(ADSL):c.793-49A>C	not provided [RCV000830051]	benign	22	40361224	40361224	Human		name
15133872	CV788093	single nucleotide variant	NM_000026.4(ADSL):c.862+10G>A	Adenylosuccinate lyase deficiency [RCV000981625]	likely benign	22	40361352	40361352	Human	1	name , alternate_id
26923901	CV851928	single nucleotide variant	NM_000026.4(ADSL):c.1102-6C>G	Adenylosuccinate lyase deficiency [RCV001064875]	conflicting interpretations of pathogenicity\|uncertain significance	22	40364270	40364270	Human	1	name , alternate_id
28885639	CV891840	single nucleotide variant	NM_000026.4(ADSL):c.1011-9G>C	Adenylosuccinate lyase deficiency [RCV001150924]	conflicting interpretations of pathogenicity\|uncertain significance	22	40362972	40362972	Human	1	name , alternate_id
127291610	CV1129159	duplication	NM_000026.4(ADSL):c.1191+12dup	Adenylosuccinate lyase deficiency [RCV001451543]	likely benign	22	40364373	40364374	Human	1	name , alternate_id
150496107	CV1205984	deletion	NM_000026.4(ADSL):c.357+112del	not provided [RCV001593666]	likely benign	22	40350134	40350134	Human		name
150503191	CV1212424	single nucleotide variant	NM_000026.4(ADSL):c.1192-59T>G	not provided [RCV001595299]	benign	22	40364821	40364821	Human		name
150464693	CV1215309	single nucleotide variant	NM_000026.4(ADSL):c.357+111T>C	not provided [RCV001614008]	benign	22	40350146	40350146	Human		name
150461362	CV1215795	single nucleotide variant	NM_000026.4(ADSL):c.1102-18C>G	Adenylosuccinate lyase deficiency [RCV001866258]\|not provided [RCV001613498]	benign\|likely benign\|uncertain significance	22	40364258	40364258	Human	1	name , alternate_id
150514032	CV1228021	duplication	NM_000026.4(ADSL):c.792+246dup	not provided [RCV001638299]	benign	22	40360726	40360727	Human		name
150441932	CV1233618	single nucleotide variant	NM_000026.4(ADSL):c.403-101C>T	not provided [RCV001645306]	benign	22	40354147	40354147	Human		name
150443870	CV1249336	single nucleotide variant	NM_000026.4(ADSL):c.701+113A>G	not provided [RCV001666768]	benign	22	40359419	40359419	Human		name
150445169	CV1249532	duplication	NM_000026.4(ADSL):c.357+112dup	not provided [RCV001666965]	benign	22	40350133	40350134	Human		name
150437896	CV1249949	single nucleotide variant	NM_000026.4(ADSL):c.792+148A>C	not provided [RCV001665863]	benign	22	40360640	40360640	Human		name
150449334	CV1273619	single nucleotide variant	NM_000026.4(ADSL):c.402+281C>T	not provided [RCV001691719]	benign	22	40353398	40353398	Human		name
150443514	CV1287895	single nucleotide variant	NM_000026.4(ADSL):c.357+238A>G	not provided [RCV001725617]	benign	22	40350273	40350273	Human		name
8690059	CV140009	single nucleotide variant	NM_000026.4(ADSL):c.1010+18A>G	Adenylosuccinate lyase deficiency [RCV002055395]\|not provided [RCV001699040]\|not specified [RCV000123545]	benign\|likely benign	22	40361653	40361653	Human	1	name , alternate_id
152107674	CV1529885	single nucleotide variant	NM_000026.4(ADSL):c.1101+10C>T	Adenylosuccinate lyase deficiency [RCV002196366]	likely benign	22	40363081	40363081	Human	1	name , alternate_id
152107912	CV1550651	duplication	NM_000026.4(ADSL):c.1102-15dup	Adenylosuccinate lyase deficiency [RCV002134102]	likely benign	22	40364260	40364261	Human	1	name , alternate_id
152031394	CV1561166	single nucleotide variant	NM_000026.4(ADSL):c.1011-13A>G	Adenylosuccinate lyase deficiency [RCV002106145]	likely benign	22	40362968	40362968	Human	1	name , alternate_id
152096949	CV1566129	single nucleotide variant	NM_000026.4(ADSL):c.1102-16G>T	Adenylosuccinate lyase deficiency [RCV002094972]	likely benign	22	40364260	40364260	Human	1	name , alternate_id
152053777	CV1573345	single nucleotide variant	NM_000026.4(ADSL):c.1011-18T>C	Adenylosuccinate lyase deficiency [RCV002207835]	likely benign	22	40362963	40362963	Human	1	name , alternate_id
152147343	CV1608187	single nucleotide variant	NM_000026.4(ADSL):c.1102-17C>T	Adenylosuccinate lyase deficiency [RCV002178925]	likely benign	22	40364259	40364259	Human	1	name , alternate_id
152052453	CV1622642	single nucleotide variant	NM_000026.4(ADSL):c.1191+17G>A	Adenylosuccinate lyase deficiency [RCV002207690]	likely benign	22	40364382	40364382	Human	1	name , alternate_id
152074271	CV1638158	single nucleotide variant	NM_000026.4(ADSL):c.1191+10C>G	Adenylosuccinate lyase deficiency [RCV002192206]	likely benign	22	40364375	40364375	Human	1	name , alternate_id
156296156	CV1924126	single nucleotide variant	NM_000026.4(ADSL):c.1192-20A>G	Adenylosuccinate lyase deficiency [RCV002629024]	likely benign	22	40364860	40364860	Human	1	name , alternate_id
156440428	CV1943481	single nucleotide variant	NM_000026.4(ADSL):c.1368+14A>C	Adenylosuccinate lyase deficiency [RCV003110461]	likely benign	22	40365070	40365070	Human	1	name , alternate_id
156202580	CV2021292	single nucleotide variant	NM_000026.4(ADSL):c.1192-20A>C	Adenylosuccinate lyase deficiency [RCV002711453]	likely benign	22	40364860	40364860	Human	1	name , alternate_id
156300295	CV2075869	single nucleotide variant	NM_000026.4(ADSL):c.1011-17G>A	Adenylosuccinate lyase deficiency [RCV002857136]	likely benign	22	40362964	40362964	Human	1	name , alternate_id
156051267	CV2093517	single nucleotide variant	NM_000026.4(ADSL):c.1192-12C>T	Adenylosuccinate lyase deficiency [RCV002867791]	likely benign	22	40364868	40364868	Human	1	name , alternate_id
155923823	CV2148660	single nucleotide variant	NM_000026.4(ADSL):c.1102-14A>G	Adenylosuccinate lyase deficiency [RCV003013314]	likely benign	22	40364262	40364262	Human	1	name , alternate_id
405107343	CV2914625	single nucleotide variant	NM_000026.4(ADSL):c.1368+18C>T	Adenylosuccinate lyase deficiency [RCV003498534]	likely benign	22	40365074	40365074	Human	1	name , alternate_id
405111811	CV2923703	single nucleotide variant	NM_000026.4(ADSL):c.1192-11T>C	Adenylosuccinate lyase deficiency [RCV003499432]	likely benign	22	40364869	40364869	Human	1	name , alternate_id
404986964	CV2973891	single nucleotide variant	NM_000026.4(ADSL):c.1369-19A>G	Adenylosuccinate lyase deficiency [RCV003604055]	likely benign	22	40366417	40366417	Human	1	name , alternate_id
404994137	CV3005559	single nucleotide variant	NM_000026.4(ADSL):c.1102-12C>G	Adenylosuccinate lyase deficiency [RCV003604863]	likely benign	22	40364264	40364264	Human	1	name , alternate_id
12833429	CV377538	single nucleotide variant	NM_000026.4(ADSL):c.1191+16T>C	not specified [RCV000418488]	likely benign	22	40364381	40364381	Human		name
12833542	CV378742	single nucleotide variant	NM_000026.4(ADSL):c.1369-17T>C	Adenylosuccinate lyase deficiency [RCV002526343]\|not provided [RCV004703978]\|not specified [RCV000418707]	likely benign	22	40366419	40366419	Human	1	name , alternate_id
12845983	CV378817	single nucleotide variant	NM_000026.4(ADSL):c.1191+11C>A	Adenylosuccinate lyase deficiency [RCV002063532]\|not specified [RCV000440784]	likely benign	22	40364376	40364376	Human	1	name , alternate_id
597965934	CV3793861	single nucleotide variant	NM_000026.4(ADSL):c.1101+10C>A	Adenylosuccinate lyase deficiency [RCV005140243]	likely benign	22	40363081	40363081	Human	1	name , alternate_id
597950108	CV3797802	single nucleotide variant	NM_000026.4(ADSL):c.1191+12C>T	Adenylosuccinate lyase deficiency [RCV005135796]	likely benign	22	40364377	40364377	Human	1	name , alternate_id
597896161	CV3854013	single nucleotide variant	NM_000026.4(ADSL):c.1102-19A>G	Adenylosuccinate lyase deficiency [RCV005201297]	likely benign	22	40364257	40364257	Human	1	name , alternate_id
13539982	CV508185	single nucleotide variant	NM_000026.4(ADSL):c.1102-16G>A	Adenylosuccinate lyase deficiency [RCV002063132]\|not specified [RCV000614052]	likely benign	22	40364260	40364260	Human	1	name , alternate_id
14726830	CV669666	single nucleotide variant	NM_000026.4(ADSL):c.153+116A>G	not provided [RCV000834042]\|not specified [RCV004594174]	benign	22	40346827	40346827	Human		name
14734704	CV669667	single nucleotide variant	NM_000026.4(ADSL):c.357+172T>C	not provided [RCV000837676]	benign	22	40350207	40350207	Human		name
14729889	CV669679	single nucleotide variant	NM_000026.4(ADSL):c.1010+45C>G	not provided [RCV000835424]	likely benign	22	40361680	40361680	Human		name
14711012	CV670635	single nucleotide variant	NM_000026.4(ADSL):c.482+281T>C	not provided [RCV000827895]	benign	22	40354608	40354608	Human		name
14727973	CV670639	single nucleotide variant	NM_000026.4(ADSL):c.1102-77T>G	not provided [RCV000834570]	likely benign	22	40364199	40364199	Human		name
14737409	CV670656	single nucleotide variant	NM_000026.4(ADSL):c.153+206C>T	not provided [RCV000838917]	benign	22	40346917	40346917	Human		name
14710513	CV670658	single nucleotide variant	NM_000026.4(ADSL):c.153+274T>C	not provided [RCV000827727]	benign	22	40346985	40346985	Human		name
14733763	CV670665	single nucleotide variant	NM_000026.4(ADSL):c.483-226G>A	not provided [RCV000837245]	likely benign	22	40358638	40358638	Human		name
14734706	CV670902	single nucleotide variant	NM_000026.4(ADSL):c.357+173C>T	not provided [RCV000837677]	benign	22	40350208	40350208	Human		name
15098254	CV690248	single nucleotide variant	NM_000026.4(ADSL):c.1368+10C>T	Adenylosuccinate lyase deficiency [RCV001479043]	likely benign	22	40365066	40365066	Human	1	name , alternate_id
150490353	CV1251012	duplication	NM_000026.4(ADSL):c.1102-190dup	not provided [RCV001674679]	benign	22	40364076	40364077	Human		name
14737411	CV669683	single nucleotide variant	NM_000026.4(ADSL):c.1101+158T>C	not provided [RCV000838918]	likely benign	22	40363229	40363229	Human		name
14734708	CV669684	single nucleotide variant	NM_000026.4(ADSL):c.1101+233A>G	not provided [RCV000837678]	benign	22	40363304	40363304	Human	1	name
14734708	CV669684	single nucleotide variant	NM_000026.4(ADSL):c.1101+233A>G	not provided [RCV000837678]	benign	22	40363304	40363305	Human	1	name
14737414	CV669690	single nucleotide variant	NM_000026.4(ADSL):c.1102-230C>T	not provided [RCV000838919]	likely benign	22	40364046	40364046	Human		name
150470135	CV1209265	microsatellite	NM_000026.4(ADSL):c.402+157TTC[2]	not provided [RCV001588376]	likely benign	22	40353274	40353276	Human		name
13528578	CV508415	single nucleotide variant	NM_000026.4(ADSL):c.9T>C (p.Ala3=)	Adenylosuccinate lyase deficiency [RCV001448851]\|not specified [RCV000605501]	likely benign	22	40346567	40346567	Human	1	name , alternate_id
151732180	CV1378293	deletion	NM_000026.4(ADSL):c.655-42_655-8del	Adenylosuccinate lyase deficiency [RCV002041321]	uncertain significance	22	40359216	40359250	Human	1	name , alternate_id
8690063	CV140013	single nucleotide variant	NM_000026.4(ADSL):c.27G>T (p.Ser9=)	Adenylosuccinate lyase deficiency [RCV000868944]\|not specified [RCV000123549]	benign\|likely benign	22	40346585	40346585	Human	1	name , alternate_id
152074258	CV1520889	single nucleotide variant	NM_000026.4(ADSL):c.15C>A (p.Gly5=)	Adenylosuccinate lyase deficiency [RCV002075513]	likely benign	22	40346573	40346573	Human	1	name , alternate_id
155944624	CV1911200	deletion	NM_000026.4(ADSL):c.403-21_403-6del	Adenylosuccinate lyase deficiency [RCV002615858]	likely benign	22	40354220	40354235	Human	1	name , alternate_id
26891465	CV849363	single nucleotide variant	NM_000026.4(ADSL):c.15C>T (p.Gly5=)	Adenylosuccinate lyase deficiency [RCV001046467]	likely benign\|uncertain significance	22	40346573	40346573	Human	1	name , alternate_id
126922903	CV1052159	microsatellite	NM_000026.4(ADSL):c.1101+6_1101+8del	Adenylosuccinate lyase deficiency [RCV001365221]	uncertain significance	22	40363074	40363076	Human		name , alternate_id
151748605	CV1353242	single nucleotide variant	NM_000026.4(ADSL):c.51T>A (p.Leu17=)	Adenylosuccinate lyase deficiency [RCV001912736]	likely benign\|uncertain significance	22	40346609	40346609	Human	1	name , alternate_id
151835723	CV1374826	single nucleotide variant	NM_000026.4(ADSL):c.7G>A (p.Ala3Thr)	Adenylosuccinate lyase deficiency [RCV001920953]	uncertain significance	22	40346565	40346565	Human	1	name , alternate_id
156441739	CV1941391	duplication	NM_000026.4(ADSL):c.357+15_357+22dup	Adenylosuccinate lyase deficiency [RCV003112071]	likely benign	22	40350049	40350050	Human	1	name , alternate_id
10395539	CV203835	single nucleotide variant	NM_000026.4(ADSL):c.5C>T (p.Ala2Val)	Adenylosuccinate lyase deficiency [RCV001363283]\|not provided [RCV000186704]	pathogenic\|likely pathogenic\|uncertain significance	22	40346563	40346563	Human	1	name , alternate_id
156116672	CV2058514	single nucleotide variant	NM_000026.4(ADSL):c.97A>C (p.Arg33=)	Adenylosuccinate lyase deficiency [RCV002825133]	uncertain significance	22	40346655	40346655	Human	1	name , alternate_id
404990942	CV2991602	single nucleotide variant	NM_000026.4(ADSL):c.60C>T (p.Arg20=)	Adenylosuccinate lyase deficiency [RCV003604515]	likely benign	22	40346618	40346618	Human	1	name , alternate_id
405254776	CV3175458	single nucleotide variant	NM_000026.4(ADSL):c.39C>T (p.Tyr13=)	Adenylosuccinate lyase deficiency [RCV003871725]	likely benign	22	40346597	40346597	Human	1	name , alternate_id
405267872	CV3189576	single nucleotide variant	NM_000026.4(ADSL):c.57C>A (p.Ser19=)	ADSL-related disorder [RCV003898969]	likely benign	22	40346615	40346615	Human		name , trait , alternate_id
597924143	CV3777999	single nucleotide variant	NM_000026.4(ADSL):c.30C>G (p.Pro10=)	Adenylosuccinate lyase deficiency [RCV005130723]	likely benign	22	40346588	40346588	Human	1	name , alternate_id
12833375	CV379853	single nucleotide variant	NM_000026.4(ADSL):c.75G>A (p.Glu25=)	not specified [RCV000418370]	likely benign	22	40346633	40346633	Human		name
597971628	CV3802632	single nucleotide variant	NM_000026.4(ADSL):c.54C>T (p.Ala18=)	Adenylosuccinate lyase deficiency [RCV005142230]	likely benign	22	40346612	40346612	Human	1	name , alternate_id
597960066	CV3843543	single nucleotide variant	NM_000026.4(ADSL):c.96C>T (p.Asp32=)	Adenylosuccinate lyase deficiency [RCV005192580]	likely benign	22	40346654	40346654	Human	1	name , alternate_id
13497966	CV471977	single nucleotide variant	NM_000026.4(ADSL):c.72G>A (p.Pro24=)	Adenylosuccinate lyase deficiency [RCV001441240]	likely benign	22	40346630	40346630	Human	1	name , alternate_id
13540435	CV507588	single nucleotide variant	NM_000026.4(ADSL):c.42C>T (p.Arg14=)	Adenylosuccinate lyase deficiency [RCV003497864]\|not specified [RCV000614690]	likely benign	22	40346600	40346600	Human	1	name , alternate_id
14716609	CV670637	deletion	NM_000026.4(ADSL):c.483-41_483-38del	not provided [RCV000829786]\|not specified [RCV004594139]	benign	22	40358823	40358826	Human		name
26921306	CV849362	single nucleotide variant	NM_000026.4(ADSL):c.8C>G (p.Ala3Gly)	Adenylosuccinate lyase deficiency [RCV001060867]	uncertain significance	22	40346566	40346566	Human	1	name , alternate_id
126752078	CV1035206	single nucleotide variant	NM_000026.4(ADSL):c.17A>T (p.Asp6Val)	Adenylosuccinate lyase deficiency [RCV001338365]	uncertain significance	22	40346575	40346575	Human	1	name , alternate_id
8658870	CV133725	single nucleotide variant	NM_000026.4(ADSL):c.124C>T (p.Leu42=)	Adenylosuccinate lyase deficiency [RCV000226786]\|not provided [RCV003430666]\|not specified [RCV000116237]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40346682	40346682	Human	1	name , alternate_id
151789537	CV1377207	single nucleotide variant	NM_000026.4(ADSL):c.19C>G (p.His7Asp)	Adenylosuccinate lyase deficiency [RCV001898042]	uncertain significance	22	40346577	40346577	Human	1	name , alternate_id
8690060	CV140010	single nucleotide variant	NM_000026.4(ADSL):c.216C>T (p.Ile72=)	Adenylosuccinate lyase deficiency [RCV000229565]\|not provided [RCV004713315]\|not specified [RCV000175509]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	40349894	40349894	Human	1	name , alternate_id
151886727	CV1455207	single nucleotide variant	NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)	Adenylosuccinate lyase deficiency [RCV002038035]\|Inborn genetic diseases [RCV004043243]	likely benign\|uncertain significance	22	40346569	40346569	Human	2	name , alternate_id
151768461	CV1486186	single nucleotide variant	NM_000026.4(ADSL):c.10G>A (p.Gly4Arg)	Adenylosuccinate lyase deficiency [RCV002045005]	uncertain significance	22	40346568	40346568	Human	1	name , alternate_id
152167602	CV1644754	single nucleotide variant	NM_000026.4(ADSL):c.255A>G (p.Arg85=)	Adenylosuccinate lyase deficiency [RCV002142201]	likely benign	22	40349933	40349933	Human	1	name , alternate_id
156019320	CV2081310	single nucleotide variant	NM_000026.4(ADSL):c.136C>T (p.Leu46=)	Adenylosuccinate lyase deficiency [RCV002866524]	likely benign	22	40346694	40346694	Human	1	name , alternate_id
11551846	CV257684	single nucleotide variant	NM_000026.4(ADSL):c.270T>C (p.Ala90=)	Adenylosuccinate lyase deficiency [RCV001088635]\|not provided [RCV000731094]\|not specified [RCV000253583]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40349948	40349948	Human	1	name , alternate_id
11639867	CV265993	single nucleotide variant	NM_000026.4(ADSL):c.16G>C (p.Asp6His)	Adenylosuccinate lyase deficiency [RCV000551429]\|Inborn genetic diseases [RCV002518830]\|not provided [RCV000327088]	uncertain significance	22	40346574	40346574	Human	2	name , alternate_id
405048583	CV2945297	single nucleotide variant	NM_000026.4(ADSL):c.282A>G (p.Thr94=)	Adenylosuccinate lyase deficiency [RCV003603310]	likely benign	22	40349960	40349960	Human	1	name , alternate_id
405049865	CV2961109	single nucleotide variant	NM_000026.4(ADSL):c.225G>A (p.Lys75=)	Adenylosuccinate lyase deficiency [RCV003603413]	likely benign	22	40349903	40349903	Human	1	name , alternate_id
597891214	CV3749354	single nucleotide variant	NM_000026.4(ADSL):c.126G>A (p.Leu42=)	Adenylosuccinate lyase deficiency [RCV005071138]	likely benign	22	40346684	40346684	Human	1	name , alternate_id
12843749	CV378797	single nucleotide variant	NM_000026.4(ADSL):c.20A>G (p.His7Arg)	Adenylosuccinate lyase deficiency [RCV001202411]\|Inborn genetic diseases [RCV004022357]\|not provided [RCV000436772]	likely benign\|uncertain significance	22	40346578	40346578	Human	2	name , alternate_id
12845693	CV379854	single nucleotide variant	NM_000026.4(ADSL):c.114A>G (p.Thr38=)	Adenylosuccinate lyase deficiency [RCV001505307]\|not specified [RCV000440282]	likely benign	22	40346672	40346672	Human	1	name , alternate_id
597948471	CV3800651	single nucleotide variant	NM_000026.4(ADSL):c.132G>T (p.Leu44=)	Adenylosuccinate lyase deficiency [RCV005135051]	likely benign	22	40346690	40346690	Human	1	name , alternate_id
13833191	CV584420	single nucleotide variant	NM_000026.4(ADSL):c.11G>T (p.Gly4Val)	Adenylosuccinate lyase deficiency [RCV001363640]\|not provided [RCV000728371]	uncertain significance	22	40346569	40346569	Human	1	name , alternate_id
15123914	CV684922	single nucleotide variant	NM_000026.4(ADSL):c.273C>T (p.His91=)	Adenylosuccinate lyase deficiency [RCV000862323]	likely benign	22	40349951	40349951	Human	1	name , alternate_id
38492037	CV929491	single nucleotide variant	NM_000026.4(ADSL):c.153G>A (p.Gln51=)	Adenylosuccinate lyase deficiency [RCV001223265]	uncertain significance	22	40346711	40346711	Human	1	name , alternate_id
126757457	CV1014615	single nucleotide variant	NM_000026.4(ADSL):c.47C>T (p.Pro16Leu)	Adenylosuccinate lyase deficiency [RCV001317495]	uncertain significance	22	40346605	40346605	Human	1	name , alternate_id
126922844	CV1052153	single nucleotide variant	NM_000026.4(ADSL):c.46C>T (p.Pro16Ser)	Adenylosuccinate lyase deficiency [RCV001365148]	uncertain significance	22	40346604	40346604	Human	1	name , alternate_id
127248084	CV1086024	single nucleotide variant	NM_000026.4(ADSL):c.879A>G (p.Pro293=)	Adenylosuccinate lyase deficiency [RCV001394381]	likely benign	22	40361504	40361504	Human	1	name , alternate_id
127296876	CV1129155	single nucleotide variant	NM_000026.4(ADSL):c.342T>C (p.Tyr114=)	Adenylosuccinate lyase deficiency [RCV001460125]	likely benign	22	40350020	40350020	Human	1	name , alternate_id
127300533	CV1129156	single nucleotide variant	NM_000026.4(ADSL):c.435T>C (p.Phe145=)	Adenylosuccinate lyase deficiency [RCV001453919]	likely benign	22	40354280	40354280	Human	1	name , alternate_id
127292927	CV1129157	single nucleotide variant	NM_000026.4(ADSL):c.438T>C (p.Ala146=)	Adenylosuccinate lyase deficiency [RCV001459078]	likely benign	22	40354283	40354283	Human	1	name , alternate_id
127307716	CV1129158	single nucleotide variant	NM_000026.4(ADSL):c.528T>C (p.Ile176=)	Adenylosuccinate lyase deficiency [RCV001463128]	likely benign	22	40358909	40358909	Human	1	name , alternate_id
127307353	CV1150148	single nucleotide variant	NM_000026.4(ADSL):c.684A>G (p.Glu228=)	Adenylosuccinate lyase deficiency [RCV001480293]	likely benign	22	40359289	40359289	Human	1	name , alternate_id
127337882	CV1150149	single nucleotide variant	NM_000026.4(ADSL):c.894C>T (p.Pro298=)	Adenylosuccinate lyase deficiency [RCV001493234]	likely benign	22	40361519	40361519	Human	1	name , alternate_id
127293880	CV1150150	single nucleotide variant	NM_000026.4(ADSL):c.999T>C (p.Asp333=)	Adenylosuccinate lyase deficiency [RCV001496871]	likely benign	22	40361624	40361624	Human	1	name , alternate_id
151857742	CV1399625	deletion	NM_000026.4(ADSL):c.187del (p.Gln63fs)	Adenylosuccinate lyase deficiency [RCV001923611]	pathogenic	22	40349864	40349864	Human	1	name , alternate_id
8690064	CV140014	single nucleotide variant	NM_000026.4(ADSL):c.363G>A (p.Leu121=)	Adenylosuccinate lyase deficiency [RCV000864071]\|not specified [RCV000123552]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	40353078	40353078	Human	1	name , alternate_id
151751717	CV1426770	single nucleotide variant	NM_000026.4(ADSL):c.28C>G (p.Pro10Ala)	Adenylosuccinate lyase deficiency [RCV002006925]	uncertain significance	22	40346586	40346586	Human	1	name , alternate_id
151742646	CV1470397	single nucleotide variant	NM_000026.4(ADSL):c.357T>C (p.Thr119=)	Adenylosuccinate lyase deficiency [RCV001871168]	uncertain significance	22	40350035	40350035	Human	1	name , alternate_id
151807953	CV1483413	single nucleotide variant	NM_000026.4(ADSL):c.78G>A (p.Met26Ile)	Adenylosuccinate lyase deficiency [RCV001918325]	likely pathogenic\|uncertain significance	22	40346636	40346636	Human	1	name , alternate_id
151742140	CV1504376	single nucleotide variant	NM_000026.4(ADSL):c.31G>C (p.Asp11His)	Adenylosuccinate lyase deficiency [RCV002022422]	uncertain significance	22	40346589	40346589	Human	1	name , alternate_id
152174651	CV1567403	single nucleotide variant	NM_000026.4(ADSL):c.789C>T (p.His263=)	Adenylosuccinate lyase deficiency [RCV002163229]	likely benign	22	40360489	40360489	Human	1	name , alternate_id
152119532	CV1579156	single nucleotide variant	NM_000026.4(ADSL):c.754C>T (p.Leu252=)	Adenylosuccinate lyase deficiency [RCV002081361]	likely benign	22	40360454	40360454	Human	1	name , alternate_id
152041730	CV1603271	single nucleotide variant	NM_000026.4(ADSL):c.417C>T (p.Ile139=)	Adenylosuccinate lyase deficiency [RCV002071105]	likely benign	22	40354262	40354262	Human	1	name , alternate_id
152071225	CV1628601	single nucleotide variant	NM_000026.4(ADSL):c.462A>G (p.Thr154=)	Adenylosuccinate lyase deficiency [RCV002169316]	likely benign	22	40354307	40354307	Human	1	name , alternate_id
152057655	CV1651859	single nucleotide variant	NM_000026.4(ADSL):c.708C>T (p.Phe236=)	Adenylosuccinate lyase deficiency [RCV002190158]	likely benign	22	40360408	40360408	Human	1	name , alternate_id
156290336	CV1886842	single nucleotide variant	NM_000026.4(ADSL):c.954G>A (p.Pro318=)	Adenylosuccinate lyase deficiency [RCV003087457]	likely benign	22	40361579	40361579	Human	1	name , alternate_id
156444979	CV1949032	single nucleotide variant	NM_000026.4(ADSL):c.621T>C (p.Ser207=)	Adenylosuccinate lyase deficiency [RCV003115913]	likely benign	22	40359002	40359002	Human	1	name , alternate_id
156321789	CV2022137	single nucleotide variant	NM_000026.4(ADSL):c.56C>T (p.Ser19Phe)	Adenylosuccinate lyase deficiency [RCV002717140]	uncertain significance	22	40346614	40346614	Human	1	name , alternate_id
156031412	CV2029788	single nucleotide variant	NM_000026.4(ADSL):c.62A>G (p.Tyr21Cys)	Adenylosuccinate lyase deficiency [RCV002735822]	uncertain significance	22	40346620	40346620	Human	1	name , alternate_id
156031712	CV2029801	single nucleotide variant	NM_000026.4(ADSL):c.480C>T (p.Phe160=)	Adenylosuccinate lyase deficiency [RCV002735833]	likely benign	22	40354325	40354325	Human	1	name , alternate_id
10395540	CV203836	single nucleotide variant	NM_000026.4(ADSL):c.40C>T (p.Arg14Cys)	Adenylosuccinate lyase deficiency [RCV001228393]\|not provided [RCV000727459]	uncertain significance	22	40346598	40346598	Human	1	name , alternate_id
155994888	CV2095688	single nucleotide variant	NM_000026.4(ADSL):c.414G>A (p.Val138=)	Adenylosuccinate lyase deficiency [RCV002908334]	likely benign	22	40354259	40354259	Human	1	name , alternate_id
155976025	CV2149098	single nucleotide variant	NM_000026.4(ADSL):c.618C>T (p.Ala206=)	Adenylosuccinate lyase deficiency [RCV003016158]	uncertain significance	22	40358999	40358999	Human	1	name , alternate_id
156107585	CV2181101	single nucleotide variant	NM_000026.4(ADSL):c.780A>C (p.Ala260=)	Adenylosuccinate lyase deficiency [RCV003054962]	likely benign	22	40360480	40360480	Human	1	name , alternate_id
155956987	CV2182534	single nucleotide variant	NM_000026.4(ADSL):c.816G>A (p.Leu272=)	Adenylosuccinate lyase deficiency [RCV003032737]	likely benign	22	40361296	40361296	Human	1	name , alternate_id
11641088	CV267768	single nucleotide variant	NM_000026.4(ADSL):c.579G>C (p.Leu193=)	Adenylosuccinate lyase deficiency [RCV001150921]\|not provided [RCV000349838]	conflicting interpretations of pathogenicity\|uncertain significance	22	40358960	40358960	Human	1	name , alternate_id
405108611	CV2860033	single nucleotide variant	NM_000026.4(ADSL):c.393T>C (p.Leu131=)	Adenylosuccinate lyase deficiency [RCV003498844]	likely benign	22	40353108	40353108	Human	1	name , alternate_id
405047146	CV2936996	single nucleotide variant	NM_000026.4(ADSL):c.885G>A (p.Lys295=)	Adenylosuccinate lyase deficiency [RCV003603200]	likely benign	22	40361510	40361510	Human	1	name , alternate_id
405047888	CV2947819	single nucleotide variant	NM_000026.4(ADSL):c.837G>A (p.Glu279=)	Adenylosuccinate lyase deficiency [RCV003603257]	likely benign	22	40361317	40361317	Human	1	name , alternate_id
405049992	CV2951259	single nucleotide variant	NM_000026.4(ADSL):c.555C>T (p.Asn185=)	Adenylosuccinate lyase deficiency [RCV003603423]	likely benign	22	40358936	40358936	Human	1	name , alternate_id
405042688	CV3034277	single nucleotide variant	NM_000026.4(ADSL):c.831G>A (p.Glu277=)	Adenylosuccinate lyase deficiency [RCV003602808]	likely benign	22	40361311	40361311	Human	1	name , alternate_id
404991463	CV3077616	single nucleotide variant	NM_000026.4(ADSL):c.414G>C (p.Val138=)	Adenylosuccinate lyase deficiency [RCV003604568]	likely benign	22	40354259	40354259	Human	1	name , alternate_id
405067358	CV3148953	single nucleotide variant	NM_000026.4(ADSL):c.990A>G (p.Thr330=)	Adenylosuccinate lyase deficiency [RCV003850715]	likely benign	22	40361615	40361615	Human	1	name , alternate_id
404979515	CV3183218	single nucleotide variant	NM_000026.4(ADSL):c.633C>G (p.Leu211=)	Adenylosuccinate lyase deficiency [RCV003880241]	likely benign	22	40359014	40359014	Human	1	name , alternate_id
405699835	CV3227247	single nucleotide variant	NM_000026.4(ADSL):c.94G>T (p.Asp32Tyr)	Adenylosuccinate lyase deficiency [RCV003993599]	uncertain significance	22	40346652	40346652	Human	1	name , alternate_id
11620851	CV338124	single nucleotide variant	NM_000026.4(ADSL):c.763C>T (p.Leu255=)	Adenylosuccinate lyase deficiency [RCV000341448]\|not provided [RCV002261074]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40360463	40360463	Human	1	name , alternate_id
12845069	CV377512	single nucleotide variant	NM_000026.4(ADSL):c.32A>T (p.Asp11Val)	Adenylosuccinate lyase deficiency [RCV001044398]\|not provided [RCV000439143]	uncertain significance	22	40346590	40346590	Human	1	name , alternate_id
597883523	CV3784265	single nucleotide variant	NM_000026.4(ADSL):c.474A>G (p.Thr158=)	Adenylosuccinate lyase deficiency [RCV005124554]	likely benign	22	40354319	40354319	Human	1	name , alternate_id
597932212	CV3786143	single nucleotide variant	NM_000026.4(ADSL):c.744T>C (p.Asp248=)	Adenylosuccinate lyase deficiency [RCV005131851]	likely benign	22	40360444	40360444	Human	1	name , alternate_id
12845364	CV379856	single nucleotide variant	NM_000026.4(ADSL):c.567C>T (p.Val189=)	Adenylosuccinate lyase deficiency [RCV000867063]\|not specified [RCV000439679]	benign\|likely benign	22	40358948	40358948	Human	1	name , alternate_id
597953119	CV3798904	single nucleotide variant	NM_000026.4(ADSL):c.86T>A (p.Val29Glu)	Adenylosuccinate lyase deficiency [RCV005136478]	uncertain significance	22	40346644	40346644	Human	1	name , alternate_id
597971630	CV3802633	single nucleotide variant	NM_000026.4(ADSL):c.73G>T (p.Glu25Ter)	Adenylosuccinate lyase deficiency [RCV005142231]	pathogenic	22	40346631	40346631	Human	1	name , alternate_id
597938224	CV3808205	single nucleotide variant	NM_000026.4(ADSL):c.804C>T (p.Asp268=)	Adenylosuccinate lyase deficiency [RCV005158393]	likely benign	22	40361284	40361284	Human	1	name , alternate_id
597943625	CV3812377	single nucleotide variant	NM_000026.4(ADSL):c.636T>C (p.Phe212=)	Adenylosuccinate lyase deficiency [RCV005159587]	likely benign	22	40359017	40359017	Human	1	name , alternate_id
597874630	CV3813005	single nucleotide variant	NM_000026.4(ADSL):c.625C>T (p.Leu209=)	Adenylosuccinate lyase deficiency [RCV005148941]	likely benign	22	40359006	40359006	Human	1	name , alternate_id
597962263	CV3840968	single nucleotide variant	NM_000026.4(ADSL):c.507G>A (p.Gly169=)	Adenylosuccinate lyase deficiency [RCV005193261]	likely benign	22	40358888	40358888	Human	1	name , alternate_id
597961112	CV3844054	single nucleotide variant	NM_000026.4(ADSL):c.954G>C (p.Pro318=)	Adenylosuccinate lyase deficiency [RCV005192900]	likely benign	22	40361579	40361579	Human	1	name , alternate_id
597914653	CV3851163	single nucleotide variant	NM_000026.4(ADSL):c.750A>G (p.Glu250=)	Adenylosuccinate lyase deficiency [RCV005204131]	likely benign	22	40360450	40360450	Human	1	name , alternate_id
598130037	CV3886372	single nucleotide variant	NM_000026.4(ADSL):c.73G>A (p.Glu25Lys)	Adenylosuccinate lyase deficiency [RCV005244169]	likely pathogenic	22	40346631	40346631	Human	1	name , alternate_id
12898500	CV411017	deletion	NM_000026.4(ADSL):c.1011-23_1011-20del	not specified [RCV000478048]	likely benign	22	40362957	40362960	Human		name
13480504	CV446417	single nucleotide variant	NM_000026.4(ADSL):c.56C>G (p.Ser19Cys)	not provided [RCV000521253]	uncertain significance	22	40346614	40346614	Human		name
13499405	CV471597	single nucleotide variant	NM_000026.4(ADSL):c.843C>T (p.Pro281=)	Adenylosuccinate lyase deficiency [RCV000532703]	likely benign	22	40361323	40361323	Human	1	name , alternate_id
13517841	CV490147	single nucleotide variant	NM_000026.4(ADSL):c.408C>T (p.Ala136=)	Adenylosuccinate lyase deficiency [RCV001476772]\|not provided [RCV000596859]	likely benign\|uncertain significance	22	40354253	40354253	Human	1	name , alternate_id
13533359	CV507590	single nucleotide variant	NM_000026.4(ADSL):c.558G>A (p.Leu186=)	not specified [RCV000607068]	likely benign	22	40358939	40358939	Human		name
13617998	CV534340	single nucleotide variant	NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)	Adenylosuccinate lyase deficiency [RCV000634534]\|Inborn genetic diseases [RCV002529825]	pathogenic\|likely pathogenic\|uncertain significance	22	40346629	40346629	Human	2	name , alternate_id
13618008	CV534836	single nucleotide variant	NM_000026.4(ADSL):c.801C>T (p.Thr267=)	Adenylosuccinate lyase deficiency [RCV000634541]	likely benign	22	40361281	40361281	Human	1	name , alternate_id
13618010	CV534839	single nucleotide variant	NM_000026.4(ADSL):c.870T>C (p.Ser290=)	Adenylosuccinate lyase deficiency [RCV000634542]	likely benign	22	40361495	40361495	Human	1	name , alternate_id
13822448	CV575272	single nucleotide variant	NM_000026.4(ADSL):c.36C>A (p.Ser12Arg)	Adenylosuccinate lyase deficiency [RCV000697335]	uncertain significance	22	40346594	40346594	Human	1	name , alternate_id
14719199	CV649513	single nucleotide variant	NM_000026.4(ADSL):c.41G>T (p.Arg14Leu)	Adenylosuccinate lyase deficiency [RCV000812500]	uncertain significance	22	40346599	40346599	Human	1	name , alternate_id
15188272	CV773558	single nucleotide variant	NM_000026.4(ADSL):c.429C>T (p.Ala143=)	Adenylosuccinate lyase deficiency [RCV001394484]	likely benign	22	40354274	40354274	Human	1	name , alternate_id
15182765	CV773559	single nucleotide variant	NM_000026.4(ADSL):c.465A>G (p.Leu155=)	Adenylosuccinate lyase deficiency [RCV001442662]	likely benign	22	40354310	40354310	Human	1	name , alternate_id
15176756	CV773560	single nucleotide variant	NM_000026.4(ADSL):c.873G>A (p.Ala291=)	ADSL-related disorder [RCV003942887]\|Adenylosuccinate lyase deficiency [RCV001422082]	likely benign	22	40361498	40361498	Human	1	name , trait , alternate_id
38490471	CV951481	single nucleotide variant	NM_000026.4(ADSL):c.49C>T (p.Leu17Phe)	Adenylosuccinate lyase deficiency [RCV001238846]	uncertain significance	22	40346607	40346607	Human	1	name , alternate_id
8639229	CV98217	single nucleotide variant	NM_000026.4(ADSL):c.735A>T (p.Arg245=)	Adenylosuccinate lyase deficiency [RCV001079876]\|not provided [RCV000723714]\|not specified [RCV000186609]	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance\|conflicting data from submitters	22	40360435	40360435	Human	1	name , alternate_id
126746025	CV1014616	single nucleotide variant	NM_000026.4(ADSL):c.100T>C (p.Tyr34His)	Adenylosuccinate lyase deficiency [RCV001325958]	uncertain significance	22	40346658	40346658	Human	1	name , alternate_id
126761491	CV1014617	single nucleotide variant	NM_000026.4(ADSL):c.226A>C (p.Met76Leu)	Adenylosuccinate lyase deficiency [RCV001318656]	uncertain significance	22	40349904	40349904	Human	1	name , alternate_id
126729822	CV1014618	single nucleotide variant	NM_000026.4(ADSL):c.258T>G (p.His86Gln)	Adenylosuccinate lyase deficiency [RCV001312757]	uncertain significance	22	40349936	40349936	Human	1	name , alternate_id
126908085	CV1052154	single nucleotide variant	NM_000026.4(ADSL):c.262G>T (p.Val88Leu)	Adenylosuccinate lyase deficiency [RCV001367571]	uncertain significance	22	40349940	40349940	Human	1	name , alternate_id
127239373	CV1065042	deletion	NM_000026.4(ADSL):c.666del (p.Asp223fs)	Adenylosuccinate lyase deficiency [RCV001383241]	pathogenic	22	40359270	40359270	Human	1	name , alternate_id
127260510	CV1065045	deletion	NM_000026.4(ADSL):c.955del (p.Leu319fs)	Adenylosuccinate lyase deficiency [RCV001387368]	pathogenic	22	40361580	40361580	Human	1	name , alternate_id
127251808	CV1107741	single nucleotide variant	NM_000026.4(ADSL):c.1122G>T (p.Arg374=)	Adenylosuccinate lyase deficiency [RCV001436627]	likely benign	22	40364296	40364296	Human	1	name , alternate_id
127290496	CV1129160	single nucleotide variant	NM_000026.4(ADSL):c.1314C>G (p.Ser438=)	Adenylosuccinate lyase deficiency [RCV001451269]	likely benign	22	40365002	40365002	Human	1	name , alternate_id
127290005	CV1129161	single nucleotide variant	NM_000026.4(ADSL):c.1416T>C (p.Tyr472=)	Adenylosuccinate lyase deficiency [RCV001451067]	likely benign	22	40366483	40366483	Human	1	name , alternate_id
151863289	CV1338928	single nucleotide variant	NM_000026.4(ADSL):c.224A>G (p.Lys75Arg)	Adenylosuccinate lyase deficiency [RCV001997416]\|Inborn genetic diseases [RCV004975986]	uncertain significance	22	40349902	40349902	Human	2	name , alternate_id
151859815	CV1344047	single nucleotide variant	NM_000026.4(ADSL):c.129G>C (p.Trp43Cys)	Adenylosuccinate lyase deficiency [RCV002034225]	uncertain significance	22	40346687	40346687	Human	1	name , alternate_id
151737006	CV1354934	single nucleotide variant	NM_000026.4(ADSL):c.245A>G (p.Lys82Arg)	Adenylosuccinate lyase deficiency [RCV001892871]	uncertain significance	22	40349923	40349923	Human	1	name , alternate_id
151749107	CV1362706	single nucleotide variant	NM_000026.4(ADSL):c.173C>G (p.Thr58Arg)	Adenylosuccinate lyase deficiency [RCV001968996]	uncertain significance	22	40349851	40349851	Human	1	name , alternate_id
151798891	CV1373748	single nucleotide variant	NM_000026.4(ADSL):c.146C>T (p.Ala49Val)	Adenylosuccinate lyase deficiency [RCV001917527]	uncertain significance	22	40346704	40346704	Human	1	name , alternate_id
151824019	CV1397835	single nucleotide variant	NM_000026.4(ADSL):c.274G>T (p.Val92Leu)	Adenylosuccinate lyase deficiency [RCV001976019]	uncertain significance	22	40349952	40349952	Human	1	name , alternate_id
151869735	CV1412186	single nucleotide variant	NM_000026.4(ADSL):c.274G>A (p.Val92Met)	Adenylosuccinate lyase deficiency [RCV001884986]	uncertain significance	22	40349952	40349952	Human	1	name , alternate_id
151738915	CV1437506	single nucleotide variant	NM_000026.4(ADSL):c.216C>G (p.Ile72Met)	Adenylosuccinate lyase deficiency [RCV001870821]	uncertain significance	22	40349894	40349894	Human	1	name , alternate_id
151885849	CV1445105	single nucleotide variant	NM_000026.4(ADSL):c.1444T>C (p.Leu482=)	Adenylosuccinate lyase deficiency [RCV001942040]	likely benign	22	40366511	40366511	Human	1	name , alternate_id
151835865	CV1471582	single nucleotide variant	NM_000026.4(ADSL):c.151C>T (p.Gln51Ter)	Adenylosuccinate lyase deficiency [RCV001956156]	pathogenic	22	40346709	40346709	Human	1	name , alternate_id
151723541	CV1488600	single nucleotide variant	NM_000026.4(ADSL):c.244A>C (p.Lys82Gln)	Adenylosuccinate lyase deficiency [RCV002003989]	uncertain significance	22	40349922	40349922	Human	1	name , alternate_id
152056512	CV1567121	single nucleotide variant	NM_000026.4(ADSL):c.1318T>C (p.Leu440=)	Adenylosuccinate lyase deficiency [RCV002146302]	likely benign	22	40365006	40365006	Human	1	name , alternate_id
152103803	CV1574677	single nucleotide variant	NM_000026.4(ADSL):c.1041C>T (p.Thr347=)	Adenylosuccinate lyase deficiency [RCV002095878]	likely benign	22	40363011	40363011	Human	1	name , alternate_id
152163738	CV1575499	single nucleotide variant	NM_000026.4(ADSL):c.1128G>A (p.Glu376=)	Adenylosuccinate lyase deficiency [RCV002181391]	likely benign	22	40364302	40364302	Human	1	name , alternate_id
152041888	CV1609119	single nucleotide variant	NM_000026.4(ADSL):c.1269C>A (p.Leu423=)	Adenylosuccinate lyase deficiency [RCV002188373]	likely benign	22	40364957	40364957	Human	1	name , alternate_id
152167625	CV1611547	single nucleotide variant	NM_000026.4(ADSL):c.1380C>T (p.Phe460=)	Adenylosuccinate lyase deficiency [RCV002182218]	likely benign	22	40366447	40366447	Human	1	name , alternate_id
152134605	CV1634292	single nucleotide variant	NM_000026.4(ADSL):c.1071C>T (p.Asn357=)	Adenylosuccinate lyase deficiency [RCV002218541]	likely benign	22	40363041	40363041	Human	1	name , alternate_id
152104751	CV1645494	single nucleotide variant	NM_000026.4(ADSL):c.1092G>A (p.Val364=)	Adenylosuccinate lyase deficiency [RCV002133705]	likely benign	22	40363062	40363062	Human	1	name , alternate_id
153301595	CV1685797	single nucleotide variant	NM_000026.4(ADSL):c.254G>A (p.Arg85Gln)	Adenylosuccinate lyase deficiency [RCV003101442]\|not provided [RCV002260774]	uncertain significance	22	40349932	40349932	Human	1	name , alternate_id
155714136	CV1775978	single nucleotide variant	NM_000026.4(ADSL):c.197A>C (p.Lys66Thr)	Adenylosuccinate lyase deficiency [RCV002296318]	uncertain significance	22	40349875	40349875	Human	1	name , alternate_id
10050602	CV192169	single nucleotide variant	NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)	Adenylosuccinate lyase deficiency [RCV000527728]\|not provided [RCV000723817]	conflicting interpretations of pathogenicity\|uncertain significance	22	40349925	40349925	Human	1	name , alternate_id
156029434	CV1923118	single nucleotide variant	NM_000026.4(ADSL):c.248G>A (p.Arg83His)	Adenylosuccinate lyase deficiency [RCV002637094]	uncertain significance	22	40349926	40349926	Human	1	name , alternate_id
156438632	CV1947246	single nucleotide variant	NM_000026.4(ADSL):c.1452G>C (p.Leu484=)	Adenylosuccinate lyase deficiency [RCV003108578]	likely benign	22	40366519	40366519	Human	1	name , alternate_id
156354545	CV2004959	duplication	NM_000026.4(ADSL):c.807dup (p.Arg270fs)	Adenylosuccinate lyase deficiency [RCV002675827]\|not provided [RCV005254122]	pathogenic	22	40361286	40361287	Human	1	name , alternate_id
10395541	CV203837	single nucleotide variant	NM_000026.4(ADSL):c.113C>G (p.Thr38Arg)	not provided [RCV000186706]	uncertain significance	22	40346671	40346671	Human		name
10397278	CV203838	single nucleotide variant	NM_000026.4(ADSL):c.197A>T (p.Lys66Ile)	Adenylosuccinate lyase deficiency [RCV002513974]\|not provided [RCV000186700]	uncertain significance	22	40349875	40349875	Human	1	name , alternate_id
10395537	CV203839	single nucleotide variant	NM_000026.4(ADSL):c.263T>C (p.Val88Ala)	Adenylosuccinate lyase deficiency [RCV001207291]\|not provided [RCV000186702]	uncertain significance	22	40349941	40349941	Human	1	name , alternate_id
156310063	CV2063341	single nucleotide variant	NM_000026.4(ADSL):c.278A>G (p.His93Arg)	Adenylosuccinate lyase deficiency [RCV002834067]	uncertain significance	22	40349956	40349956	Human	1	name , alternate_id
156300749	CV2069901	single nucleotide variant	NM_000026.4(ADSL):c.142G>A (p.Glu48Lys)	Adenylosuccinate lyase deficiency [RCV002833608]	uncertain significance	22	40346700	40346700	Human	1	name , alternate_id
156111092	CV2077786	single nucleotide variant	NM_000026.4(ADSL):c.1266C>T (p.Asp422=)	Adenylosuccinate lyase deficiency [RCV002889191]	likely benign	22	40364954	40364954	Human	1	name , alternate_id
156136554	CV2097378	single nucleotide variant	NM_000026.4(ADSL):c.1005C>G (p.Ala335=)	Adenylosuccinate lyase deficiency [RCV002890142]	likely benign	22	40361630	40361630	Human	1	name , alternate_id
156119483	CV2151583	single nucleotide variant	NM_000026.4(ADSL):c.1381T>C (p.Leu461=)	Adenylosuccinate lyase deficiency [RCV003002923]	likely benign	22	40366448	40366448	Human	1	name , alternate_id
156022287	CV2184646	single nucleotide variant	NM_000026.4(ADSL):c.227T>C (p.Met76Thr)	Adenylosuccinate lyase deficiency [RCV003035789]	uncertain significance	22	40349905	40349905	Human	1	name , alternate_id
156352047	CV2190394	single nucleotide variant	NM_000026.4(ADSL):c.175G>A (p.Asp59Asn)	Adenylosuccinate lyase deficiency [RCV003048410]	uncertain significance	22	40349853	40349853	Human	1	name , alternate_id
401737688	CV2718175	single nucleotide variant	NM_000026.4(ADSL):c.242A>G (p.Glu81Gly)	Inborn genetic diseases [RCV003273488]	uncertain significance	22	40349920	40349920	Human	1	name
405106415	CV2912996	single nucleotide variant	NM_000026.4(ADSL):c.1317G>A (p.Gln439=)	Adenylosuccinate lyase deficiency [RCV003498332]	likely benign	22	40365005	40365005	Human	1	name , alternate_id
405111465	CV2923425	single nucleotide variant	NM_000026.4(ADSL):c.1029G>A (p.Glu343=)	Adenylosuccinate lyase deficiency [RCV003499374]	likely benign	22	40362999	40362999	Human	1	name , alternate_id
404986780	CV2970552	single nucleotide variant	NM_000026.4(ADSL):c.1338T>G (p.Pro446=)	Adenylosuccinate lyase deficiency [RCV003604031]	likely benign	22	40365026	40365026	Human	1	name , alternate_id
404989134	CV2988025	single nucleotide variant	NM_000026.4(ADSL):c.1080A>G (p.Glu360=)	Adenylosuccinate lyase deficiency [RCV003604298]	likely benign	22	40363050	40363050	Human	1	name , alternate_id
404994999	CV3017029	deletion	NM_000026.4(ADSL):c.372del (p.Arg125fs)	Adenylosuccinate lyase deficiency [RCV003604977]	pathogenic	22	40353086	40353086	Human	1	name , alternate_id
405040813	CV3027128	single nucleotide variant	NM_000026.4(ADSL):c.1368G>A (p.Gln456=)	Adenylosuccinate lyase deficiency [RCV003602643]	uncertain significance	22	40365056	40365056	Human	1	name , alternate_id
404986514	CV3071805	single nucleotide variant	NM_000026.4(ADSL):c.1152C>T (p.Asn384=)	Adenylosuccinate lyase deficiency [RCV003604001]	likely benign	22	40364326	40364326	Human	1	name , alternate_id
404985595	CV3078977	single nucleotide variant	NM_000026.4(ADSL):c.1062G>A (p.Thr354=)	Adenylosuccinate lyase deficiency [RCV003603920]	likely benign	22	40363032	40363032	Human	1	name , alternate_id
11626148	CV338130	single nucleotide variant	NM_000026.4(ADSL):c.1200T>C (p.His400=)	Adenylosuccinate lyase deficiency [RCV000407816]	conflicting interpretations of pathogenicity\|uncertain significance	22	40364888	40364888	Human	1	name , alternate_id
597854051	CV3747569	single nucleotide variant	NM_000026.4(ADSL):c.1056G>A (p.Leu352=)	Adenylosuccinate lyase deficiency [RCV005066580]	likely benign	22	40363026	40363026	Human	1	name , alternate_id
597965230	CV3751057	single nucleotide variant	NM_000026.4(ADSL):c.1104A>C (p.Val368=)	Adenylosuccinate lyase deficiency [RCV005082619]	likely benign	22	40364278	40364278	Human	1	name , alternate_id
12849720	CV377516	single nucleotide variant	NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)	Adenylosuccinate lyase deficiency [RCV000679862]\|not provided [RCV000434653]	pathogenic\|likely pathogenic	22	40349931	40349931	Human	1	name , alternate_id
12833939	CV377521	single nucleotide variant	NM_000026.4(ADSL):c.271C>T (p.His91Tyr)	Adenylosuccinate lyase deficiency [RCV000764386]\|not provided [RCV000419456]	uncertain significance	22	40349949	40349949	Human	1	name , alternate_id
12848287	CV378731	single nucleotide variant	NM_000026.4(ADSL):c.1272A>T (p.Ile424=)	not provided [RCV000868096]\|not specified [RCV000445004]	likely benign	22	40364960	40364960	Human		name
12841074	CV378803	single nucleotide variant	NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys)	Adenylosuccinate lyase deficiency [RCV002521608]\|not provided [RCV000431927]	uncertain significance	22	40346659	40346659	Human	1	name , alternate_id
12833611	CV378816	single nucleotide variant	NM_000026.4(ADSL):c.1089C>T (p.Val363=)	Adenylosuccinate lyase deficiency [RCV001427748]\|not provided [RCV001703619]	likely benign	22	40363059	40363059	Human	1	name , alternate_id
597888110	CV3839176	single nucleotide variant	NM_000026.4(ADSL):c.1111C>A (p.Arg371=)	Adenylosuccinate lyase deficiency [RCV005179262]	likely benign	22	40364285	40364285	Human	1	name , alternate_id
12901317	CV411016	single nucleotide variant	NM_000026.4(ADSL):c.240A>C (p.Glu80Asp)	not provided [RCV000484388]	uncertain significance	22	40349918	40349918	Human		name
13540028	CV508175	single nucleotide variant	NM_000026.4(ADSL):c.1026C>T (p.Ala342=)	Adenylosuccinate lyase deficiency [RCV003497867]\|not specified [RCV000614124]	likely benign	22	40362996	40362996	Human	1	name , alternate_id
13618013	CV534355	single nucleotide variant	NM_000026.4(ADSL):c.1350T>C (p.Thr450=)	Adenylosuccinate lyase deficiency [RCV000634545]	likely benign	22	40365038	40365038	Human	1	name , alternate_id
13816088	CV572000	single nucleotide variant	NM_000026.4(ADSL):c.155C>A (p.Thr52Lys)	Adenylosuccinate lyase deficiency [RCV000692090]	uncertain significance	22	40349833	40349833	Human	1	name , alternate_id
14725002	CV649514	single nucleotide variant	NM_000026.4(ADSL):c.183A>C (p.Gln61His)	Adenylosuccinate lyase deficiency [RCV000798632]\|not provided [RCV003325520]	pathogenic\|uncertain significance	22	40349861	40349861	Human	1	name , alternate_id
14738626	CV649515	single nucleotide variant	NM_000026.4(ADSL):c.205C>G (p.Leu69Val)	Adenylosuccinate lyase deficiency [RCV000804581]	uncertain significance	22	40349883	40349883	Human	1	name , alternate_id
14720808	CV649526	single nucleotide variant	NM_000026.4(ADSL):c.1413A>G (p.Pro471=)	Adenylosuccinate lyase deficiency [RCV000796829]	likely benign\|uncertain significance	22	40366480	40366480	Human	1	name , alternate_id
15157032	CV758099	single nucleotide variant	NM_000026.4(ADSL):c.1422C>T (p.Ser474=)	Adenylosuccinate lyase deficiency [RCV001430088]	likely benign	22	40366489	40366489	Human	1	name , alternate_id
15109149	CV773561	single nucleotide variant	NM_000026.4(ADSL):c.1359C>T (p.Ala453=)	Adenylosuccinate lyase deficiency [RCV001414468]	likely benign	22	40365047	40365047	Human	1	name , alternate_id
21068356	CV798108	single nucleotide variant	NM_000026.4(ADSL):c.217G>A (p.Asp73Asn)	Adenylosuccinate lyase deficiency [RCV002549987]\|not provided [RCV000997933]	uncertain significance	22	40349895	40349895	Human	1	name , alternate_id
21074901	CV798771	single nucleotide variant	NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)	Adenylosuccinate lyase deficiency [RCV000995690]	pathogenic	22	40349946	40349946	Human	1	name , alternate_id
26921763	CV849364	single nucleotide variant	NM_000026.4(ADSL):c.161G>A (p.Gly54Asp)	Adenylosuccinate lyase deficiency [RCV001061282]\|not provided [RCV002284461]	uncertain significance	22	40349839	40349839	Human	1	name , alternate_id
38487078	CV929490	single nucleotide variant	NM_000026.4(ADSL):c.135G>A (p.Trp45Ter)	ADSL-related disorder [RCV004756193]\|Adenylosuccinate lyase deficiency [RCV001220597]	pathogenic	22	40346693	40346693	Human	1	name , trait , alternate_id
38494408	CV929492	single nucleotide variant	NM_000026.4(ADSL):c.257A>G (p.His86Arg)	Adenylosuccinate lyase deficiency [RCV001224951]	uncertain significance	22	40349935	40349935	Human	1	name , alternate_id
38495243	CV951482	single nucleotide variant	NM_000026.4(ADSL):c.140C>T (p.Ala47Val)	Adenylosuccinate lyase deficiency [RCV001225588]	uncertain significance	22	40346698	40346698	Human	1	name , alternate_id
38499434	CV959100	single nucleotide variant	NM_000026.4(ADSL):c.271C>G (p.His91Asp)	Adenylosuccinate lyase deficiency [RCV001244507]	uncertain significance	22	40349949	40349949	Human	1	name , alternate_id
126772139	CV1014619	single nucleotide variant	NM_000026.4(ADSL):c.464T>C (p.Leu155Ser)	Adenylosuccinate lyase deficiency [RCV001323574]	uncertain significance	22	40354309	40354309	Human	1	name , alternate_id
126728314	CV1014620	single nucleotide variant	NM_000026.4(ADSL):c.985C>T (p.Arg329Cys)	Adenylosuccinate lyase deficiency [RCV001312484]	uncertain significance	22	40361610	40361610	Human	1	name , alternate_id
126746542	CV1018836	single nucleotide variant	NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)	Adenylosuccinate lyase deficiency [RCV001330906]\|Inborn genetic diseases [RCV004035707]	conflicting interpretations of pathogenicity\|uncertain significance	22	40354284	40354284	Human	2	name , alternate_id
126746546	CV1018837	single nucleotide variant	NM_000026.4(ADSL):c.502G>A (p.Val168Ile)	Adenylosuccinate lyase deficiency [RCV001330907]\|not provided [RCV001509099]	conflicting interpretations of pathogenicity\|uncertain significance	22	40358883	40358883	Human	1	name , alternate_id
126740686	CV1022109	single nucleotide variant	NM_000026.4(ADSL):c.617C>G (p.Ala206Gly)	Adenylosuccinate lyase deficiency [RCV001336062]	uncertain significance	22	40358998	40358998	Human	1	name , alternate_id
126750852	CV1035208	single nucleotide variant	NM_000026.4(ADSL):c.818C>T (p.Ala273Val)	Adenylosuccinate lyase deficiency [RCV001338123]	uncertain significance	22	40361298	40361298	Human	1	name , alternate_id
126761809	CV1035209	single nucleotide variant	NM_000026.4(ADSL):c.854A>G (p.Gln285Arg)	Adenylosuccinate lyase deficiency [RCV001340795]	uncertain significance	22	40361334	40361334	Human	1	name , alternate_id
126920297	CV1052155	single nucleotide variant	NM_000026.4(ADSL):c.319C>T (p.His107Tyr)	Adenylosuccinate lyase deficiency [RCV001373726]	uncertain significance	22	40349997	40349997	Human	1	name , alternate_id
126924059	CV1052156	single nucleotide variant	NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)	Adenylosuccinate lyase deficiency [RCV001366584]	likely pathogenic\|uncertain significance	22	40350019	40350019	Human	1	name , alternate_id
126909215	CV1052157	single nucleotide variant	NM_000026.4(ADSL):c.644A>G (p.Asp215Gly)	Adenylosuccinate lyase deficiency [RCV001368288]	uncertain significance	22	40359025	40359025	Human	1	name , alternate_id
127236787	CV1065043	single nucleotide variant	NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)	Adenylosuccinate lyase deficiency [RCV001382689]	pathogenic	22	40361282	40361282	Human	1	name , alternate_id
127245291	CV1065044	single nucleotide variant	NM_000026.4(ADSL):c.829G>T (p.Glu277Ter)	Adenylosuccinate lyase deficiency [RCV001384334]	pathogenic	22	40361309	40361309	Human	1	name , alternate_id
127269164	CV1065046	deletion	NM_000026.4(ADSL):c.1026del (p.Glu343fs)	Adenylosuccinate lyase deficiency [RCV001382329]	pathogenic	22	40362995	40362995	Human	1	name , alternate_id
127287645	CV1152936	single nucleotide variant	NM_000026.4(ADSL):c.823C>T (p.Leu275Phe)	not provided [RCV001508019]	uncertain significance	22	40361303	40361303	Human		name
150548851	CV1293937	single nucleotide variant	NM_000026.4(ADSL):c.562C>T (p.Arg188Cys)	not provided [RCV001764776]	uncertain significance	22	40358943	40358943	Human		name
8658872	CV133727	single nucleotide variant	NM_000026.4(ADSL):c.440A>T (p.Lys147Met)	Adenylosuccinate lyase deficiency [RCV000284062]\|not provided [RCV000441107]\|not specified [RCV000116239]	benign\|likely benign\|conflicting interpretations of pathogenicity	22	40354285	40354285	Human	1	name , alternate_id
151818544	CV1337650	single nucleotide variant	NM_000026.4(ADSL):c.430G>A (p.Asp144Asn)	Adenylosuccinate lyase deficiency [RCV001919331]	uncertain significance	22	40354275	40354275	Human	1	name , alternate_id
151726335	CV1352844	single nucleotide variant	NM_000026.4(ADSL):c.845T>C (p.Phe282Ser)	Adenylosuccinate lyase deficiency [RCV001891766]	uncertain significance	22	40361325	40361325	Human	1	name , alternate_id
151725452	CV1356616	single nucleotide variant	NM_000026.4(ADSL):c.913T>G (p.Cys305Gly)	Adenylosuccinate lyase deficiency [RCV001910276]\|not provided [RCV004598162]	uncertain significance	22	40361538	40361538	Human	1	name , alternate_id
151770922	CV1410846	single nucleotide variant	NM_000026.4(ADSL):c.712A>G (p.Ile238Val)	Adenylosuccinate lyase deficiency [RCV001971176]	uncertain significance	22	40360412	40360412	Human	1	name , alternate_id
151885457	CV1431964	single nucleotide variant	NM_000026.4(ADSL):c.628C>T (p.Gln210Ter)	Adenylosuccinate lyase deficiency [RCV002037760]	pathogenic	22	40359009	40359009	Human	1	name , alternate_id
151805739	CV1440531	single nucleotide variant	NM_000026.4(ADSL):c.863G>C (p.Gly288Ala)	Adenylosuccinate lyase deficiency [RCV001918127]\|not provided [RCV003128825]	uncertain significance	22	40361488	40361488	Human	1	name , alternate_id
151886169	CV1441399	single nucleotide variant	NM_000026.4(ADSL):c.733C>T (p.Arg245Ter)	Adenylosuccinate lyase deficiency [RCV001942110]	pathogenic	22	40360433	40360433	Human	1	name , alternate_id
151739932	CV1476253	single nucleotide variant	NM_000026.4(ADSL):c.974A>G (p.Gln325Arg)	Adenylosuccinate lyase deficiency [RCV001911829]	uncertain significance	22	40361599	40361599	Human	1	name , alternate_id
151889498	CV1479699	single nucleotide variant	NM_000026.4(ADSL):c.590G>A (p.Gly197Glu)	Adenylosuccinate lyase deficiency [RCV001888192]	uncertain significance	22	40358971	40358971	Human	1	name , alternate_id
151881666	CV1484299	single nucleotide variant	NM_000026.4(ADSL):c.820A>G (p.Asn274Asp)	Adenylosuccinate lyase deficiency [RCV001941136]	uncertain significance	22	40361300	40361300	Human	1	name , alternate_id
151766549	CV1492652	single nucleotide variant	NM_000026.4(ADSL):c.891T>A (p.Asn297Lys)	Adenylosuccinate lyase deficiency [RCV001914563]	uncertain significance	22	40361516	40361516	Human	1	name , alternate_id
151794056	CV1504107	single nucleotide variant	NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)	Adenylosuccinate lyase deficiency [RCV002010959]\|not provided [RCV004591694]	likely pathogenic\|uncertain significance	22	40358961	40358961	Human	1	name , alternate_id
151820806	CV1510614	single nucleotide variant	NM_000026.4(ADSL):c.859A>G (p.Ile287Val)	Adenylosuccinate lyase deficiency [RCV001934126]	conflicting interpretations of pathogenicity\|uncertain significance	22	40361339	40361339	Human	1	name , alternate_id
151749951	CV1512071	single nucleotide variant	NM_000026.4(ADSL):c.611C>T (p.Thr204Ile)	Adenylosuccinate lyase deficiency [RCV001986185]	uncertain significance	22	40358992	40358992	Human	1	name , alternate_id
155643929	CV1708243	single nucleotide variant	NM_000026.4(ADSL):c.449C>G (p.Ala150Gly)	Adenylosuccinate lyase deficiency [RCV002290232]	uncertain significance	22	40354294	40354294	Human	1	name , alternate_id
8556825	CV17502	single nucleotide variant	NM_000026.4(ADSL):c.298C>G (p.Pro100Ala)	Adenylosuccinate lyase deficiency [RCV000002567]	pathogenic	22	40349976	40349976	Human	1	name , alternate_id
8556827	CV17504	single nucleotide variant	NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)	Adenylosuccinate lyase deficiency [RCV000002569]\|not provided [RCV000186674]	pathogenic\|likely pathogenic\|uncertain significance	22	40358950	40358950	Human	1	name , alternate_id
8556828	CV17505	single nucleotide variant	NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	ADSL-related disorder [RCV003398421]\|Adenylosuccinate lyase deficiency [RCV000002570]\|not provided [RCV002280090]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	22	40360436	40360436	Human	1	name , trait , alternate_id
8556830	CV17507	single nucleotide variant	NM_000026.4(ADSL):c.674T>C (p.Met225Thr)	Adenylosuccinate lyase deficiency [RCV000002572]	pathogenic	22	40359279	40359279	Human	1	name , alternate_id
155700560	CV1773089	single nucleotide variant	NM_000026.4(ADSL):c.574G>T (p.Asp192Tyr)	Adenylosuccinate lyase deficiency [RCV002295602]	uncertain significance	22	40358955	40358955	Human	1	name , alternate_id
155747399	CV1778501	single nucleotide variant	NM_000026.4(ADSL):c.386A>G (p.Asp129Gly)	Adenylosuccinate lyase deficiency [RCV002303659]	uncertain significance	22	40353101	40353101	Human	1	name , alternate_id
156348524	CV1868606	single nucleotide variant	NM_000026.4(ADSL):c.802G>C (p.Asp268His)	Adenylosuccinate lyase deficiency [RCV003064660]	pathogenic	22	40361282	40361282	Human	1	name , alternate_id
156390465	CV1872647	single nucleotide variant	NM_000026.4(ADSL):c.328G>A (p.Ala110Thr)	Adenylosuccinate lyase deficiency [RCV003051256]	uncertain significance	22	40350006	40350006	Human	1	name , alternate_id
156410443	CV1882501	single nucleotide variant	NM_000026.4(ADSL):c.445C>T (p.Arg149Ter)	Adenylosuccinate lyase deficiency [RCV003072072]	pathogenic\|likely pathogenic	22	40354290	40354290	Human	1	name , alternate_id
156412289	CV1890476	single nucleotide variant	NM_000026.4(ADSL):c.511C>T (p.Arg171Cys)	Adenylosuccinate lyase deficiency [RCV003072830]	uncertain significance	22	40358892	40358892	Human	1	name , alternate_id
10050603	CV192170	single nucleotide variant	NM_000026.4(ADSL):c.307G>T (p.Ala103Ser)	Inborn genetic diseases [RCV005318338]\|not provided [RCV000175510]	uncertain significance	22	40349985	40349985	Human	1	name
156165385	CV1929946	single nucleotide variant	NM_000026.4(ADSL):c.770G>A (p.Ser257Asn)	Adenylosuccinate lyase deficiency [RCV002624530]	uncertain significance	22	40360470	40360470	Human	1	name , alternate_id
10052416	CV194780	single nucleotide variant	NM_000026.4(ADSL):c.649C>G (p.His217Asp)	ADSL-related disorder [RCV003907621]\|Adenylosuccinate lyase deficiency [RCV001080646]\|not provided [RCV000230022]\|not specified [RCV000186672]	benign\|likely benign\|uncertain significance	22	40359030	40359030	Human	1	name , trait , alternate_id
10053350	CV196141	single nucleotide variant	NM_000026.4(ADSL):c.895A>G (p.Met299Val)	ADSL-related disorder [RCV003907634]\|Adenylosuccinate lyase deficiency [RCV001087090]\|not provided [RCV000710485]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40361520	40361520	Human	1	name , trait , alternate_id
156224380	CV1962332	duplication	NM_000026.4(ADSL):c.1371dup (p.Gln458fs)	Adenylosuccinate lyase deficiency [RCV002596576]	uncertain significance	22	40366437	40366438	Human	1	name , alternate_id
156194883	CV2038188	single nucleotide variant	NM_000026.4(ADSL):c.587G>T (p.Arg196Leu)	Adenylosuccinate lyase deficiency [RCV002766030]	likely benign	22	40358968	40358968	Human	1	name , alternate_id
10395538	CV203840	single nucleotide variant	NM_000026.4(ADSL):c.340T>C (p.Tyr114His)	ADSL-related disorder [RCV004755797]\|Adenylosuccinate lyase deficiency [RCV000193076]\|Generalized myoclonic seizure [RCV000415212]\|Inborn genetic diseases [RCV002513975]\|not provided [RCV000186703]	pathogenic	22	40350018	40350018	Human	8	name , trait , alternate_id
10395542	CV203841	single nucleotide variant	NM_000026.4(ADSL):c.377A>G (p.Asn126Ser)	Adenylosuccinate lyase deficiency [RCV001035904]\|not provided [RCV000186707]	uncertain significance	22	40353092	40353092	Human	1	name , alternate_id
10395545	CV203843	single nucleotide variant	NM_000026.4(ADSL):c.421C>T (p.Arg141Trp)	Adenylosuccinate lyase deficiency [RCV001049471]\|Generalized myoclonic seizure [RCV000415081]\|not provided [RCV000186711]	pathogenic\|likely pathogenic\|uncertain significance	22	40354266	40354266	Human	7	name , alternate_id
10395543	CV203844	single nucleotide variant	NM_000026.4(ADSL):c.482A>G (p.Gln161Arg)	Adenylosuccinate lyase deficiency [RCV001308467]\|not provided [RCV000186708]	uncertain significance	22	40354327	40354327	Human	1	name , alternate_id
10395544	CV203845	single nucleotide variant	NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)	ADSL-related disorder [RCV003390914]\|Adenylosuccinate lyase deficiency [RCV000763484]\|not provided [RCV000186710]	pathogenic	22	40358949	40358949	Human	1	name , trait , alternate_id
10395523	CV203846	single nucleotide variant	NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)	ADSL-related disorder [RCV003927731]\|Adenylosuccinate lyase deficiency [RCV001082607]\|not provided [RCV000766357]\|not specified [RCV000186675]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40358997	40358997	Human	1	name , trait , alternate_id
10397271	CV203848	single nucleotide variant	NM_000026.4(ADSL):c.775G>T (p.Gly259Trp)	not provided [RCV000186677]	likely pathogenic\|uncertain significance	22	40360475	40360475	Human		name
10397272	CV203849	single nucleotide variant	NM_000026.4(ADSL):c.828G>C (p.Lys276Asn)	not provided [RCV000186678]	uncertain significance	22	40361308	40361308	Human		name
10397273	CV203850	single nucleotide variant	NM_000026.4(ADSL):c.853C>T (p.Gln285Ter)	not provided [RCV000186679]	pathogenic	22	40361333	40361333	Human		name
10395526	CV203851	single nucleotide variant	NM_000026.4(ADSL):c.880T>C (p.Tyr294His)	Adenylosuccinate lyase deficiency [RCV000540883]\|not provided [RCV001721189]	benign\|uncertain significance	22	40361505	40361505	Human	1	name , alternate_id
10395527	CV203852	single nucleotide variant	NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)	Adenylosuccinate lyase deficiency [RCV000764387]\|Inborn genetic diseases [RCV004020258]\|not provided [RCV000186683]	uncertain significance	22	40361550	40361550	Human	2	name , alternate_id
10395528	CV203853	single nucleotide variant	NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)	Adenylosuccinate lyase deficiency [RCV000278336]\|not provided [RCV000186684]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	40361578	40361578	Human	1	name , alternate_id
21067698	CV205025	single nucleotide variant	NM_000026.4(ADSL):c.994G>C (p.Asp332His)	Adenylosuccinate lyase deficiency [RCV000990447]	likely pathogenic	22	40361619	40361619	Human	1	name , alternate_id
155998303	CV2057278	single nucleotide variant	NM_000026.4(ADSL):c.304G>T (p.Ala102Ser)	Adenylosuccinate lyase deficiency [RCV002819527]	uncertain significance	22	40349982	40349982	Human	1	name , alternate_id
156288985	CV2058373	single nucleotide variant	NM_000026.4(ADSL):c.572A>G (p.Asp191Gly)	Adenylosuccinate lyase deficiency [RCV002833119]	uncertain significance	22	40358953	40358953	Human	1	name , alternate_id
156157368	CV2063420	duplication	NM_000026.4(ADSL):c.1364dup (p.Gln456fs)	Adenylosuccinate lyase deficiency [RCV002851081]	uncertain significance	22	40365051	40365052	Human	1	name , alternate_id
156297205	CV2069712	single nucleotide variant	NM_000026.4(ADSL):c.979T>C (p.Phe327Leu)	Adenylosuccinate lyase deficiency [RCV002833454]	uncertain significance	22	40361604	40361604	Human	1	name , alternate_id
156236767	CV2105156	single nucleotide variant	NM_000026.4(ADSL):c.543G>A (p.Met181Ile)	Adenylosuccinate lyase deficiency [RCV002919148]	uncertain significance	22	40358924	40358924	Human	1	name , alternate_id
155948247	CV2127284	single nucleotide variant	NM_000026.4(ADSL):c.527T>C (p.Ile176Thr)	Adenylosuccinate lyase deficiency [RCV002971710]	uncertain significance	22	40358908	40358908	Human	1	name , alternate_id
156220786	CV2144124	single nucleotide variant	NM_000026.4(ADSL):c.639G>T (p.Glu213Asp)	Adenylosuccinate lyase deficiency [RCV003007372]	uncertain significance	22	40359020	40359020	Human	1	name , alternate_id
10450223	CV215599	single nucleotide variant	NM_000026.4(ADSL):c.899G>A (p.Arg300His)	Adenylosuccinate lyase deficiency [RCV001220450]\|not specified [RCV000202823]	uncertain significance	22	40361524	40361524	Human	1	name , alternate_id
156335350	CV2228377	single nucleotide variant	NM_000026.4(ADSL):c.881A>G (p.Tyr294Cys)	Inborn genetic diseases [RCV002718485]	uncertain significance	22	40361506	40361506	Human	1	name
155927568	CV2230808	single nucleotide variant	NM_000026.4(ADSL):c.739G>A (p.Val247Met)	Inborn genetic diseases [RCV002728300]	uncertain significance	22	40360439	40360439	Human	1	name
155970659	CV2262263	single nucleotide variant	NM_000026.4(ADSL):c.694T>G (p.Phe232Val)	Inborn genetic diseases [RCV002817675]	uncertain significance	22	40359299	40359299	Human	1	name
11578975	CV273616	single nucleotide variant	NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)	Adenylosuccinate lyase deficiency [RCV000293106]\|not provided [RCV000727198]	pathogenic\|likely pathogenic	22	40361532	40361532	Human	1	name , alternate_id
11643735	CV274158	single nucleotide variant	NM_000026.4(ADSL):c.986G>A (p.Arg329His)	Adenylosuccinate lyase deficiency [RCV001042231]\|not provided [RCV000726396]	uncertain significance	22	40361611	40361611	Human	1	name , alternate_id
405105087	CV2853945	single nucleotide variant	NM_000026.4(ADSL):c.576C>A (p.Asp192Glu)	Adenylosuccinate lyase deficiency [RCV003498039]	likely benign	22	40358957	40358957	Human	1	name , alternate_id
405112928	CV2882204	single nucleotide variant	NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)	Adenylosuccinate lyase deficiency [RCV003499623]	conflicting interpretations of pathogenicity\|uncertain significance	22	40358949	40358949	Human	1	name , alternate_id
405106567	CV2916041	duplication	NM_000026.4(ADSL):c.1346dup (p.Thr450fs)	Adenylosuccinate lyase deficiency [RCV003498364]	pathogenic	22	40365031	40365032	Human	1	name , alternate_id
405161162	CV3159909	single nucleotide variant	NM_000026.4(ADSL):c.908G>A (p.Arg303His)	Adenylosuccinate lyase deficiency [RCV003856980]	uncertain significance	22	40361533	40361533	Human	1	name , alternate_id
11625770	CV338129	single nucleotide variant	NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)	Adenylosuccinate lyase deficiency [RCV000402231]	uncertain significance	22	40361288	40361288	Human	1	name , alternate_id
407490095	CV3431036	single nucleotide variant	NM_000026.4(ADSL):c.874A>G (p.Met292Val)	Inborn genetic diseases [RCV004620080]	uncertain significance	22	40361499	40361499	Human	1	name
12846807	CV377527	single nucleotide variant	NM_000026.4(ADSL):c.406G>A (p.Ala136Thr)	not provided [RCV001698216]	uncertain significance	22	40354251	40354251	Human		name
12846744	CV377531	single nucleotide variant	NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)	Adenylosuccinate lyase deficiency [RCV001330908]\|Inborn genetic diseases [RCV004022419]\|not provided [RCV000442215]	uncertain significance	22	40358968	40358968	Human	2	name , alternate_id
12847331	CV377536	single nucleotide variant	NM_000026.4(ADSL):c.926G>A (p.Arg309His)	Adenylosuccinate lyase deficiency [RCV000465601]\|not provided [RCV000443295]	pathogenic\|likely pathogenic\|uncertain significance	22	40361551	40361551	Human	1	name , alternate_id
12841384	CV378815	single nucleotide variant	NM_000026.4(ADSL):c.563G>A (p.Arg188His)	Adenylosuccinate lyase deficiency [RCV000473273]\|not provided [RCV000432475]	likely pathogenic\|uncertain significance	22	40358944	40358944	Human	1	name , alternate_id
597920128	CV3811743	single nucleotide variant	NM_000026.4(ADSL):c.944T>G (p.Val315Gly)	Adenylosuccinate lyase deficiency [RCV005155574]	uncertain significance	22	40361569	40361569	Human	1	name , alternate_id
597858096	CV3849847	single nucleotide variant	NM_000026.4(ADSL):c.947T>C (p.Met316Thr)	Adenylosuccinate lyase deficiency [RCV005195356]	uncertain significance	22	40361572	40361572	Human	1	name , alternate_id
597925256	CV3863151	single nucleotide variant	NM_000026.4(ADSL):c.512G>A (p.Arg171His)	Adenylosuccinate lyase deficiency [RCV005205639]	uncertain significance	22	40358893	40358893	Human	1	name , alternate_id
598224237	CV3956603	single nucleotide variant	NM_000026.4(ADSL):c.774G>C (p.Leu258Phe)	Inborn genetic diseases [RCV005318192]	uncertain significance	22	40360474	40360474	Human	1	name
12892494	CV403985	single nucleotide variant	NM_000026.4(ADSL):c.916A>G (p.Ser306Gly)	Adenylosuccinate lyase deficiency [RCV000473217]	uncertain significance	22	40361541	40361541	Human	1	name , alternate_id
13212078	CV426378	single nucleotide variant	NM_000026.4(ADSL):c.805A>G (p.Ile269Val)	Adenylosuccinate lyase deficiency [RCV000706115]\|not provided [RCV000498307]	uncertain significance	22	40361285	40361285	Human	1	name , alternate_id
13212039	CV426379	single nucleotide variant	NM_000026.4(ADSL):c.898C>A (p.Arg300Ser)	Adenylosuccinate lyase deficiency [RCV001857014]\|not provided [RCV000498255]	uncertain significance	22	40361523	40361523	Human	1	name , alternate_id
13482202	CV446419	single nucleotide variant	NM_000026.4(ADSL):c.856C>G (p.Gln286Glu)	Adenylosuccinate lyase deficiency [RCV001853643]\|not provided [RCV000521719]	uncertain significance	22	40361336	40361336	Human	1	name , alternate_id
13481919	CV446420	single nucleotide variant	NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)	Adenylosuccinate lyase deficiency [RCV001350739]\|Inborn genetic diseases [RCV002527600]\|not provided [RCV000521643]\|not specified [RCV001814999]	likely pathogenic\|uncertain significance	22	40361511	40361511	Human	2	name , alternate_id
13466884	CV470306	single nucleotide variant	NM_000026.4(ADSL):c.655G>A (p.Val219Ile)	Adenylosuccinate lyase deficiency [RCV000552936]	uncertain significance	22	40359260	40359260	Human	1	name , alternate_id
13467039	CV471148	single nucleotide variant	NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)	Adenylosuccinate lyase deficiency [RCV000553354]\|not provided [RCV000728589]	uncertain significance	22	40361512	40361512	Human	1	name , alternate_id
13466669	CV471978	single nucleotide variant	NM_000026.4(ADSL):c.769A>G (p.Ser257Gly)	Adenylosuccinate lyase deficiency [RCV000552133]	uncertain significance	22	40360469	40360469	Human	1	name , alternate_id
13617995	CV534344	single nucleotide variant	NM_000026.4(ADSL):c.541A>T (p.Met181Leu)	Adenylosuccinate lyase deficiency [RCV000634532]	uncertain significance	22	40358922	40358922	Human	1	name , alternate_id
13618006	CV534345	single nucleotide variant	NM_000026.4(ADSL):c.581G>A (p.Arg194His)	Adenylosuccinate lyase deficiency [RCV000634539]\|not provided [RCV001269550]	likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	40358962	40358962	Human	1	name , alternate_id
13618003	CV534352	single nucleotide variant	NM_000026.4(ADSL):c.898C>T (p.Arg300Cys)	Adenylosuccinate lyase deficiency [RCV000634537]	uncertain significance	22	40361523	40361523	Human	1	name , alternate_id
13806263	CV572004	single nucleotide variant	NM_000026.4(ADSL):c.541A>G (p.Met181Val)	Adenylosuccinate lyase deficiency [RCV000700498]\|Inborn genetic diseases [RCV003279020]\|not provided [RCV004794443]	uncertain significance	22	40358922	40358922	Human	2	name , alternate_id
13813475	CV573411	single nucleotide variant	NM_000026.4(ADSL):c.586C>T (p.Arg196Trp)	Adenylosuccinate lyase deficiency [RCV000704389]	uncertain significance	22	40358967	40358967	Human	1	name , alternate_id
13817993	CV574139	single nucleotide variant	NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)	Adenylosuccinate lyase deficiency [RCV000707388]\|not provided [RCV004721573]	pathogenic	22	40358931	40358931	Human	1	name , alternate_id
13822078	CV575273	single nucleotide variant	NM_000026.4(ADSL):c.407C>T (p.Ala136Val)	Adenylosuccinate lyase deficiency [RCV000696779]	uncertain significance	22	40354252	40354252	Human	1	name , alternate_id
14398890	CV614493	single nucleotide variant	NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)	Adenylosuccinate lyase deficiency [RCV000767889]	uncertain significance	22	40360434	40360434	Human	1	name , alternate_id
14727729	CV649516	single nucleotide variant	NM_000026.4(ADSL):c.451A>G (p.Ser151Gly)	Adenylosuccinate lyase deficiency [RCV000799764]	uncertain significance	22	40354296	40354296	Human	1	name , alternate_id
14737709	CV649517	single nucleotide variant	NM_000026.4(ADSL):c.611C>G (p.Thr204Ser)	Adenylosuccinate lyase deficiency [RCV000804178]	uncertain significance	22	40358992	40358992	Human	1	name , alternate_id
14745293	CV649518	single nucleotide variant	NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr)	Adenylosuccinate lyase deficiency [RCV000824613]	uncertain significance	22	40359004	40359004	Human	1	name , alternate_id
14722965	CV649519	single nucleotide variant	NM_000026.4(ADSL):c.649C>T (p.His217Tyr)	Adenylosuccinate lyase deficiency [RCV000797767]	uncertain significance	22	40359030	40359030	Human	1	name , alternate_id
14723471	CV649520	single nucleotide variant	NM_000026.4(ADSL):c.779C>T (p.Ala260Val)	Adenylosuccinate lyase deficiency [RCV000797966]	uncertain significance	22	40360479	40360479	Human	1	name , alternate_id
14732380	CV649521	single nucleotide variant	NM_000026.4(ADSL):c.842C>G (p.Pro281Arg)	Adenylosuccinate lyase deficiency [RCV000818257]\|not provided [RCV002535467]	uncertain significance	22	40361322	40361322	Human	1	name , alternate_id
14706334	CV649522	single nucleotide variant	NM_000026.4(ADSL):c.896T>C (p.Met299Thr)	Adenylosuccinate lyase deficiency [RCV000808407]\|Inborn genetic diseases [RCV004972983]	uncertain significance	22	40361521	40361521	Human	2	name , alternate_id
21073306	CV792070	single nucleotide variant	NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)	Adenylosuccinate lyase deficiency [RCV000990446]	pathogenic\|likely pathogenic	22	40360425	40360425	Human	1	name , alternate_id
26919216	CV849365	single nucleotide variant	NM_000026.4(ADSL):c.347G>A (p.Gly116Glu)	Adenylosuccinate lyase deficiency [RCV001058729]	uncertain significance	22	40350025	40350025	Human	1	name , alternate_id
26914925	CV849366	single nucleotide variant	NM_000026.4(ADSL):c.608G>A (p.Gly203Asp)	Adenylosuccinate lyase deficiency [RCV001055322]	uncertain significance	22	40358989	40358989	Human	1	name , alternate_id
26922547	CV849367	single nucleotide variant	NM_000026.4(ADSL):c.842C>T (p.Pro281Leu)	Adenylosuccinate lyase deficiency [RCV001062284]	uncertain significance	22	40361322	40361322	Human	1	name , alternate_id
26922439	CV849368	single nucleotide variant	NM_000026.4(ADSL):c.853C>G (p.Gln285Glu)	Adenylosuccinate lyase deficiency [RCV001062077]	uncertain significance	22	40361333	40361333	Human	1	name , alternate_id
26885059	CV849369	single nucleotide variant	NM_000026.4(ADSL):c.962C>T (p.Thr321Ile)	Adenylosuccinate lyase deficiency [RCV001043302]\|Inborn genetic diseases [RCV004973273]	uncertain significance	22	40361587	40361587	Human	2	name , alternate_id
26903029	CV849370	single nucleotide variant	NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)	Adenylosuccinate lyase deficiency [RCV001050339]	pathogenic	22	40361602	40361602	Human	1	name , alternate_id
28885624	CV891311	single nucleotide variant	NM_000026.4(ADSL):c.578T>C (p.Leu193Pro)	Adenylosuccinate lyase deficiency [RCV001150920]	uncertain significance	22	40358959	40358959	Human	1	name , alternate_id
28885633	CV891312	single nucleotide variant	NM_000026.4(ADSL):c.872C>T (p.Ala291Val)	Adenylosuccinate lyase deficiency [RCV001150923]	uncertain significance	22	40361497	40361497	Human	1	name , alternate_id
38486003	CV929493	single nucleotide variant	NM_000026.4(ADSL):c.446G>A (p.Arg149Gln)	Adenylosuccinate lyase deficiency [RCV001220104]	uncertain significance	22	40354291	40354291	Human	1	name , alternate_id
38484628	CV929494	single nucleotide variant	NM_000026.4(ADSL):c.832A>G (p.Met278Val)	Adenylosuccinate lyase deficiency [RCV001219514]	uncertain significance	22	40361312	40361312	Human	1	name , alternate_id
38487446	CV929495	single nucleotide variant	NM_000026.4(ADSL):c.869G>A (p.Ser290Asn)	Adenylosuccinate lyase deficiency [RCV001220741]	uncertain significance	22	40361494	40361494	Human	1	name , alternate_id
38482517	CV939319	single nucleotide variant	NM_000026.4(ADSL):c.475C>T (p.His159Tyr)	Adenylosuccinate lyase deficiency [RCV001207292]	uncertain significance	22	40354320	40354320	Human	1	name , alternate_id
38480180	CV939320	single nucleotide variant	NM_000026.4(ADSL):c.785T>C (p.Val262Ala)	Adenylosuccinate lyase deficiency [RCV001206286]	uncertain significance	22	40360485	40360485	Human	1	name , alternate_id
38484644	CV939321	single nucleotide variant	NM_000026.4(ADSL):c.919C>T (p.Leu307Phe)	Adenylosuccinate lyase deficiency [RCV001208135]	uncertain significance	22	40361544	40361544	Human	1	name , alternate_id
38474678	CV939323	deletion	NM_000026.4(ADSL):c.1187del (p.Arg396fs)	Adenylosuccinate lyase deficiency [RCV001203918]	pathogenic	22	40364361	40364361	Human	1	name , alternate_id
38456101	CV951483	single nucleotide variant	NM_000026.4(ADSL):c.366T>G (p.Ile122Met)	Adenylosuccinate lyase deficiency [RCV001228244]	uncertain significance	22	40353081	40353081	Human	1	name , alternate_id
38456105	CV951484	single nucleotide variant	NM_000026.4(ADSL):c.370C>A (p.Leu124Ile)	Adenylosuccinate lyase deficiency [RCV001228245]	uncertain significance	22	40353085	40353085	Human	1	name , alternate_id
38487360	CV951485	single nucleotide variant	NM_000026.4(ADSL):c.632T>A (p.Leu211His)	Adenylosuccinate lyase deficiency [RCV001237538]	uncertain significance	22	40359013	40359013	Human	1	name , alternate_id
38494832	CV951486	single nucleotide variant	NM_000026.4(ADSL):c.809G>A (p.Arg270His)	Adenylosuccinate lyase deficiency [RCV001225335]	uncertain significance	22	40361289	40361289	Human	1	name , alternate_id
40815083	CV971161	single nucleotide variant	NM_000026.4(ADSL):c.946A>G (p.Met316Val)	Adenylosuccinate lyase deficiency [RCV001262431]	uncertain significance	22	40361571	40361571	Human	1	name , alternate_id
40887342	CV974243	single nucleotide variant	NM_000026.4(ADSL):c.934A>T (p.Met312Leu)	Inborn genetic diseases [RCV001266880]	uncertain significance	22	40361559	40361559	Human	1	name
126761211	CV999474	single nucleotide variant	NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)	Adenylosuccinate lyase deficiency [RCV001300027]	likely pathogenic\|uncertain significance	22	40354267	40354267	Human	1	name , alternate_id
126728087	CV999475	single nucleotide variant	NM_000026.4(ADSL):c.655G>T (p.Val219Leu)	Adenylosuccinate lyase deficiency [RCV001303310]	uncertain significance	22	40359260	40359260	Human	1	name , alternate_id
126735196	CV999477	single nucleotide variant	NM_000026.4(ADSL):c.978G>T (p.Trp326Cys)	Adenylosuccinate lyase deficiency [RCV001304564]	uncertain significance	22	40361603	40361603	Human	1	name , alternate_id
126731362	CV1014622	single nucleotide variant	NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp)	Adenylosuccinate lyase deficiency [RCV001313022]	uncertain significance	22	40365046	40365046	Human	1	name , alternate_id
126755127	CV1035210	single nucleotide variant	NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg)	Adenylosuccinate lyase deficiency [RCV001338975]	uncertain significance	22	40364940	40364940	Human	1	name , alternate_id
126919172	CV1052158	single nucleotide variant	NM_000026.4(ADSL):c.1051A>G (p.Ile351Val)	Adenylosuccinate lyase deficiency [RCV001362139]	uncertain significance	22	40363021	40363021	Human	1	name , alternate_id
126911661	CV1052160	single nucleotide variant	NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile)	Adenylosuccinate lyase deficiency [RCV001369328]	uncertain significance	22	40365037	40365037	Human	1	name , alternate_id
126923550	CV1052161	single nucleotide variant	NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp)	Adenylosuccinate lyase deficiency [RCV001365973]	uncertain significance	22	40366510	40366510	Human	1	name , alternate_id
150417911	CV1182003	single nucleotide variant	NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)	Adenylosuccinate lyase deficiency [RCV002570686]\|not provided [RCV001550362]	likely pathogenic\|uncertain significance	22	40363058	40363058	Human	1	name , alternate_id
151233292	CV1317029	single nucleotide variant	NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)	Adenylosuccinate lyase deficiency [RCV002034624]\|not provided [RCV001786850]	likely pathogenic\|uncertain significance	22	40364279	40364279	Human	1	name , alternate_id
151793779	CV1372528	single nucleotide variant	NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg)	Adenylosuccinate lyase deficiency [RCV001973296]	uncertain significance	22	40366489	40366489	Human	1	name , alternate_id
151778926	CV1380171	single nucleotide variant	NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)	Adenylosuccinate lyase deficiency [RCV001950883]	pathogenic	22	40364910	40364910	Human	1	name , alternate_id
151790043	CV1389055	single nucleotide variant	NM_000026.4(ADSL):c.1369G>T (p.Val457Leu)	Adenylosuccinate lyase deficiency [RCV002010606]	uncertain significance	22	40366436	40366436	Human	1	name , alternate_id
151790524	CV1397265	single nucleotide variant	NM_000026.4(ADSL):c.1240G>T (p.Val414Phe)	Adenylosuccinate lyase deficiency [RCV001952002]	uncertain significance	22	40364928	40364928	Human	1	name , alternate_id
151790846	CV1402864	single nucleotide variant	NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr)	Adenylosuccinate lyase deficiency [RCV001898164]	uncertain significance	22	40366515	40366515	Human	1	name , alternate_id
151770861	CV1410840	single nucleotide variant	NM_000026.4(ADSL):c.1090G>A (p.Val364Met)	Adenylosuccinate lyase deficiency [RCV001971171]	likely pathogenic	22	40363060	40363060	Human	1	name , alternate_id
151751845	CV1412289	single nucleotide variant	NM_000026.4(ADSL):c.1423G>A (p.Val475Met)	Adenylosuccinate lyase deficiency [RCV001927594]	uncertain significance	22	40366490	40366490	Human	1	name , alternate_id
151770288	CV1429094	single nucleotide variant	NM_000026.4(ADSL):c.1159A>G (p.Met387Val)	Adenylosuccinate lyase deficiency [RCV001988172]	uncertain significance	22	40364333	40364333	Human	1	name , alternate_id
151815698	CV1430947	single nucleotide variant	NM_000026.4(ADSL):c.1428G>A (p.Met476Ile)	Adenylosuccinate lyase deficiency [RCV001878718]	uncertain significance	22	40366495	40366495	Human	1	name , alternate_id
151791999	CV1436353	single nucleotide variant	NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile)	Adenylosuccinate lyase deficiency [RCV001990163]	uncertain significance	22	40364319	40364319	Human	1	name , alternate_id
151740121	CV1455289	single nucleotide variant	NM_000026.4(ADSL):c.1138A>G (p.Met380Val)	Adenylosuccinate lyase deficiency [RCV002005733]\|Inborn genetic diseases [RCV005321059]	uncertain significance	22	40364312	40364312	Human	2	name , alternate_id
151881477	CV1484226	single nucleotide variant	NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys)	Adenylosuccinate lyase deficiency [RCV001941106]	uncertain significance	22	40361633	40361633	Human	1	name , alternate_id
151858587	CV1503509	single nucleotide variant	NM_000026.4(ADSL):c.1093T>C (p.Tyr365His)	Adenylosuccinate lyase deficiency [RCV001979832]	uncertain significance	22	40363063	40363063	Human	1	name , alternate_id
151794098	CV1504126	single nucleotide variant	NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)	Adenylosuccinate lyase deficiency [RCV002010963]	likely pathogenic	22	40365043	40365043	Human	1	name , alternate_id
8556823	CV17500	single nucleotide variant	NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)	Adenylosuccinate lyase deficiency [RCV000002565]	pathogenic	22	40365000	40365000	Human	1	name , alternate_id
8556824	CV17501	single nucleotide variant	NM_000026.4(ADSL):c.1277G>A (p.Arg426His)	Adenylosuccinate lyase deficiency [RCV000002566]\|Inborn genetic diseases [RCV002512680]\|not provided [RCV000186693]	pathogenic	22	40364965	40364965	Human	2	name , alternate_id
8556826	CV17503	single nucleotide variant	NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)	Adenylosuccinate lyase deficiency [RCV000002568]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	40364952	40364952	Human	1	name , alternate_id
155727122	CV1773727	single nucleotide variant	NM_000026.4(ADSL):c.1013G>T (p.Arg338Leu)	Adenylosuccinate lyase deficiency [RCV002301506]	uncertain significance	22	40362983	40362983	Human	1	name , alternate_id
156317944	CV1897601	single nucleotide variant	NM_000026.4(ADSL):c.1286T>C (p.Val429Ala)	Adenylosuccinate lyase deficiency [RCV002579061]	uncertain significance	22	40364974	40364974	Human	1	name , alternate_id
10049634	CV190709	single nucleotide variant	NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala)	Adenylosuccinate lyase deficiency [RCV000634536]\|not provided [RCV000432959]	uncertain significance	22	40363030	40363030	Human	1	name , alternate_id
10049917	CV191129	single nucleotide variant	NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu)	Adenylosuccinate lyase deficiency [RCV001363767]\|not provided [RCV000174209]	uncertain significance	22	40364895	40364895	Human	1	name , alternate_id
156393008	CV1987839	single nucleotide variant	NM_000026.4(ADSL):c.1295A>G (p.Tyr432Cys)	Adenylosuccinate lyase deficiency [RCV002635169]	uncertain significance	22	40364983	40364983	Human	1	name , alternate_id
10395525	CV203854	single nucleotide variant	NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)	Adenylosuccinate lyase deficiency [RCV001209833]\|not provided [RCV000186680]	pathogenic	22	40361634	40361634	Human	1	name , alternate_id
10395529	CV203855	single nucleotide variant	NM_000026.4(ADSL):c.1061C>T (p.Thr354Met)	Adenylosuccinate lyase deficiency [RCV001857600]\|not provided [RCV000186686]	uncertain significance	22	40363031	40363031	Human	1	name , alternate_id
10395530	CV203856	single nucleotide variant	NM_000026.4(ADSL):c.1115G>A (p.Arg372His)	Adenylosuccinate lyase deficiency [RCV000467182]\|Inborn genetic diseases [RCV004020259]\|not provided [RCV000186688]	uncertain significance	22	40364289	40364289	Human	2	name , alternate_id
10397274	CV203857	single nucleotide variant	NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)	Adenylosuccinate lyase deficiency [RCV001852436]\|not provided [RCV000186689]	pathogenic\|uncertain significance	22	40364302	40364302	Human	1	name , alternate_id
10395531	CV203858	single nucleotide variant	NM_000026.4(ADSL):c.1187G>A (p.Arg396His)	Adenylosuccinate lyase deficiency [RCV000779373]\|not provided [RCV000186690]	pathogenic\|likely pathogenic	22	40364361	40364361	Human	1	name , alternate_id
10395532	CV203859	single nucleotide variant	NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser)	Adenylosuccinate lyase deficiency [RCV000537481]\|Inborn genetic diseases [RCV003343677]\|not provided [RCV000186691]	uncertain significance	22	40364950	40364950	Human	2	name , alternate_id
10397275	CV203860	single nucleotide variant	NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)	Adenylosuccinate lyase deficiency [RCV001253786]\|not provided [RCV000186692]	pathogenic\|uncertain significance	22	40364964	40364964	Human	1	name , alternate_id
10395533	CV203861	single nucleotide variant	NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn)	Adenylosuccinate lyase deficiency [RCV001971049]	pathogenic\|likely pathogenic\|uncertain significance	22	40364976	40364976	Human	1	name , alternate_id
10395534	CV203862	single nucleotide variant	NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)	Adenylosuccinate lyase deficiency [RCV001489163]\|not provided [RCV000725224]\|not specified [RCV000186695]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	22	40364979	40364979	Human	1	name , alternate_id
10395535	CV203863	single nucleotide variant	NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	Adenylosuccinate lyase deficiency [RCV000763485]\|not provided [RCV000186696]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	22	40365027	40365027	Human	1	name , alternate_id
10395546	CV203865	single nucleotide variant	NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)	Adenylosuccinate lyase deficiency [RCV001781543]\|not provided [RCV000186712]	pathogenic\|likely pathogenic	22	40365037	40365037	Human	1	name , alternate_id
10397276	CV203866	single nucleotide variant	NM_000026.4(ADSL):c.1391A>T (p.Glu464Val)	not provided [RCV000186697]	uncertain significance	22	40366458	40366458	Human		name
10397277	CV203867	single nucleotide variant	NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly)	Adenylosuccinate lyase deficiency [RCV001313688]\|not provided [RCV000727388]	uncertain significance	22	40366506	40366506	Human	1	name , alternate_id
10395536	CV203868	single nucleotide variant	NM_000026.4(ADSL):c.1447T>C (p.Cys483Arg)	not provided [RCV000186699]	uncertain significance	22	40366514	40366514	Human		name
155977791	CV2073185	single nucleotide variant	NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp)	Adenylosuccinate lyase deficiency [RCV002842372]	uncertain significance	22	40366521	40366521	Human	1	name , alternate_id
155972885	CV2078181	single nucleotide variant	NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala)	Adenylosuccinate lyase deficiency [RCV002863402]	uncertain significance	22	40363066	40363066	Human	1	name , alternate_id
156196343	CV2095361	single nucleotide variant	NM_000026.4(ADSL):c.1117A>G (p.Ile373Val)	Adenylosuccinate lyase deficiency [RCV002917630]	uncertain significance	22	40364291	40364291	Human	1	name , alternate_id
156265252	CV2125209	single nucleotide variant	NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg)	Adenylosuccinate lyase deficiency [RCV002934029]	uncertain significance	22	40363051	40363051	Human	1	name , alternate_id
156221939	CV2144214	single nucleotide variant	NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)	Adenylosuccinate lyase deficiency [RCV003007416]	likely pathogenic	22	40365042	40365042	Human	1	name , alternate_id
11350976	CV237095	single nucleotide variant	NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	Adenylosuccinate lyase deficiency [RCV000526230]\|Inborn genetic diseases [RCV002516223]\|not provided [RCV000224729]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	22	40365030	40365030	Human	2	name , alternate_id
405112933	CV2882206	single nucleotide variant	NM_000026.4(ADSL):c.1315C>T (p.Gln439Ter)	Adenylosuccinate lyase deficiency [RCV003499624]	pathogenic\|likely pathogenic	22	40365003	40365003	Human	1	name , alternate_id
11651740	CV347772	single nucleotide variant	NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)	Adenylosuccinate lyase deficiency [RCV000300825]	uncertain significance	22	40364944	40364944	Human	1	name , alternate_id
408383182	CV3504907	single nucleotide variant	NM_000026.4(ADSL):c.1040C>A (p.Thr347Asn)	ADSL-related disorder [RCV004730479]	uncertain significance	22	40363010	40363010	Human		name , trait , alternate_id
11629907	CV352562	single nucleotide variant	NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)	Adenylosuccinate lyase deficiency [RCV000335846]	uncertain significance	22	40364280	40364280	Human	1	name , alternate_id
12740722	CV360511	single nucleotide variant	NM_000026.4(ADSL):c.1167G>A (p.Met389Ile)	Adenylosuccinate lyase deficiency [RCV001351733]\|not specified [RCV000412930]	uncertain significance	22	40364341	40364341	Human	1	name , alternate_id
12838883	CV378728	single nucleotide variant	NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp)	Adenylosuccinate lyase deficiency [RCV000821230]\|not provided [RCV000427780]	pathogenic\|uncertain significance	22	40364294	40364294	Human	1	name , alternate_id
12843151	CV378732	single nucleotide variant	NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)	Adenylosuccinate lyase deficiency [RCV000696181]\|not provided [RCV000435716]	likely pathogenic\|uncertain significance	22	40364967	40364967	Human	1	name , alternate_id
12843937	CV378740	single nucleotide variant	NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe)	Adenylosuccinate lyase deficiency [RCV002522468]\|not provided [RCV000437111]	uncertain significance	22	40365028	40365028	Human	1	name , alternate_id
12850156	CV378824	single nucleotide variant	NM_000026.4(ADSL):c.1414T>C (p.Tyr472His)	not provided [RCV000442330]	likely pathogenic	22	40366481	40366481	Human		name
597961750	CV3795249	single nucleotide variant	NM_000026.4(ADSL):c.1226A>G (p.Gln409Arg)	Adenylosuccinate lyase deficiency [RCV005138941]	uncertain significance	22	40364914	40364914	Human	1	name , alternate_id
12849890	CV379857	single nucleotide variant	NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)	Adenylosuccinate lyase deficiency [RCV000688125]\|not provided [RCV000438014]	likely pathogenic\|uncertain significance	22	40366467	40366467	Human	1	name , alternate_id
12901374	CV411018	single nucleotide variant	NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn)	Adenylosuccinate lyase deficiency [RCV001302302]\|Inborn genetic diseases [RCV002526952]\|not provided [RCV000484518]	uncertain significance	22	40362986	40362986	Human	2	name , alternate_id
12900753	CV411019	single nucleotide variant	NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln)	Adenylosuccinate lyase deficiency [RCV000634533]\|not provided [RCV000483104]	uncertain significance	22	40364295	40364295	Human	1	name , alternate_id
13477728	CV446421	single nucleotide variant	NM_000026.4(ADSL):c.1123C>T (p.Gln375Ter)	not provided [RCV000520476]	likely pathogenic	22	40364297	40364297	Human		name
13487007	CV446422	single nucleotide variant	NM_000026.4(ADSL):c.1337C>A (p.Pro446His)	Adenylosuccinate lyase deficiency [RCV000785042]\|not provided [RCV000726681]	uncertain significance	22	40365025	40365025	Human	1	name , alternate_id
13468010	CV470309	single nucleotide variant	NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser)	Adenylosuccinate lyase deficiency [RCV000556894]	uncertain significance	22	40364900	40364900	Human	1	name , alternate_id
13464862	CV471151	single nucleotide variant	NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp)	ADSL-related disorder [RCV004755952]\|Adenylosuccinate lyase deficiency [RCV000544204]\|not provided [RCV002221554]	uncertain significance	22	40364285	40364285	Human	1	name , trait , alternate_id
13618004	CV534362	single nucleotide variant	NM_000026.4(ADSL):c.1355G>A (p.Arg452His)	Adenylosuccinate lyase deficiency [RCV000634538]	uncertain significance	22	40365043	40365043	Human	1	name , alternate_id
13618000	CV534477	single nucleotide variant	NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile)	Adenylosuccinate lyase deficiency [RCV000634535]	uncertain significance	22	40366472	40366472	Human	1	name , alternate_id
13821635	CV574140	single nucleotide variant	NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser)	Adenylosuccinate lyase deficiency [RCV000696185]	uncertain significance	22	40364288	40364288	Human	1	name , alternate_id
14396190	CV611925	single nucleotide variant	NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter)	Adenylosuccinate lyase deficiency [RCV002536581]\|not provided [RCV000760928]	pathogenic\|likely pathogenic	22	40363065	40363065	Human	1	name , alternate_id
14398892	CV614494	single nucleotide variant	NM_000026.4(ADSL):c.1393G>C (p.Val465Leu)	Adenylosuccinate lyase deficiency [RCV000767890]	uncertain significance	22	40366460	40366460	Human	1	name , alternate_id
14714230	CV649523	single nucleotide variant	NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)	Adenylosuccinate lyase deficiency [RCV000810822]	uncertain significance	22	40362997	40362997	Human	1	name , alternate_id
14717909	CV649524	single nucleotide variant	NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr)	Adenylosuccinate lyase deficiency [RCV000795626]	uncertain significance	22	40364919	40364919	Human	1	name , alternate_id
14741781	CV649525	single nucleotide variant	NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)	Adenylosuccinate lyase deficiency [RCV000822391]	uncertain significance	22	40365031	40365031	Human	1	name , alternate_id
26912897	CV849371	single nucleotide variant	NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)	Adenylosuccinate lyase deficiency [RCV001039703]\|not provided [RCV001268745]	pathogenic\|likely pathogenic\|uncertain significance	22	40364360	40364360	Human	1	name , alternate_id
26912962	CV849372	single nucleotide variant	NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe)	Adenylosuccinate lyase deficiency [RCV001039736]\|Inborn genetic diseases [RCV004973265]\|not provided [RCV004721720]	uncertain significance	22	40364923	40364923	Human	2	name , alternate_id
26895997	CV849373	single nucleotide variant	NM_000026.4(ADSL):c.1365G>T (p.Gln455His)	Adenylosuccinate lyase deficiency [RCV001048058]	uncertain significance	22	40365053	40365053	Human	1	name , alternate_id
28905272	CV891313	single nucleotide variant	NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)	Adenylosuccinate lyase deficiency [RCV001144829]	uncertain significance	22	40364941	40364941	Human	1	name , alternate_id
28869203	CV891314	single nucleotide variant	NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys)	Adenylosuccinate lyase deficiency [RCV001144830]	uncertain significance	22	40365042	40365042	Human	1	name , alternate_id
8637654	CV92880	single nucleotide variant	NM_000026.2(ADSL):c.1108G>A (p.Glu370Lys)	Malignant melanoma [RCV000072978]	not provided	22	40364282	40364282	Human		name
38467217	CV939322	single nucleotide variant	NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr)	Adenylosuccinate lyase deficiency [RCV001201984]	uncertain significance	22	40363012	40363012	Human	1	name , alternate_id
38597533	CV963935	single nucleotide variant	NM_000026.4(ADSL):c.1022T>C (p.Leu341Ser)	Intellectual disability [RCV001251876]	likely benign	22	40362992	40362992	Human	2	name
8639228	CV98216	single nucleotide variant	NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln)	Adenylosuccinate lyase deficiency [RCV000697137]\|not provided [RCV000723724]	benign\|uncertain significance	22	40364286	40364286	Human	1	name , alternate_id
126730707	CV999478	single nucleotide variant	NM_000026.4(ADSL):c.1053A>G (p.Ile351Met)	Adenylosuccinate lyase deficiency [RCV001294247]	uncertain significance	22	40363023	40363023	Human	1	name , alternate_id
126759586	CV999479	single nucleotide variant	NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn)	Adenylosuccinate lyase deficiency [RCV001309060]	uncertain significance	22	40364946	40364946	Human	1	name , alternate_id
10397279	CV203864	microsatellite	NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)	Adenylosuccinate lyase deficiency [RCV001036968]\|not provided [RCV000186709]	pathogenic\|likely pathogenic\|uncertain significance	22	40365025	40365027	Human		name , alternate_id
21073307	CV792071	microsatellite	NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del)	Adenylosuccinate lyase deficiency [RCV000990448]	likely pathogenic	22	40364326	40364328	Human		name , alternate_id
151758257	CV1361554	deletion	NM_000026.4(ADSL):c.1261_1263del (p.Asn421del)	Adenylosuccinate lyase deficiency [RCV001928209]	uncertain significance	22	40364949	40364951	Human	1	name , alternate_id
151781913	CV1439209	deletion	NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del)	Adenylosuccinate lyase deficiency [RCV002009819]	uncertain significance	22	40360451	40360459	Human	1	name , alternate_id
155953297	CV2073308	deletion	NM_000026.4(ADSL):c.1431_1436del (p.Val478_Lys479del)	Adenylosuccinate lyase deficiency [RCV002816386]	uncertain significance	22	40366494	40366499	Human	1	name , alternate_id
126752495	CV1035205	single nucleotide variant	NC_000022.11:g.40346060T>C	Adenylosuccinate lyase deficiency [RCV001352625]	uncertain significance	22	40346060	40346060	Human	1	alternate_id
126919896	CV1052151	single nucleotide variant	NC_000022.11:g.40345887C>T	Adenylosuccinate lyase deficiency [RCV001373493]	uncertain significance	22	40345887	40345887	Human	1	alternate_id
126920190	CV1052152	single nucleotide variant	NC_000022.11:g.40345934G>A	Adenylosuccinate lyase deficiency [RCV001373666]	uncertain significance	22	40345934	40345934	Human	1	alternate_id
127244021	CV1054682	deletion	NC_000022.10:g.(?_40760260)_(40762546_?)del	Adenylosuccinate lyase deficiency [RCV001377197]	likely pathogenic				Human	1	alternate_id
127310774	CV1159180	duplication	NC_000022.11:g.40345499dup	Adenylosuccinate lyase deficiency [RCV001518384]	benign	22	40345498	40345499	Human	1	alternate_id
127304086	CV1159181	single nucleotide variant	NC_000022.11:g.40345516C>T	Adenylosuccinate lyase deficiency [RCV001515756]	benign	22	40345516	40345516	Human	1	alternate_id
127305407	CV1159182	single nucleotide variant	NC_000022.11:g.40345588A>G	Adenylosuccinate lyase deficiency [RCV001516263]	benign	22	40345588	40345588	Human	1	alternate_id
127322002	CV1159183	insertion	NC_000022.11:g.40345588_40345589insAAAAG	Adenylosuccinate lyase deficiency [RCV001523319]	benign	22	40345588	40345589	Human	1	alternate_id
127322004	CV1159184	single nucleotide variant	NC_000022.11:g.40345589G>A	Adenylosuccinate lyase deficiency [RCV001523322]	benign	22	40345589	40345589	Human	1	alternate_id
127295789	CV1159185	duplication	NC_000022.11:g.40345596_40345597dup	Adenylosuccinate lyase deficiency [RCV001512314]	benign	22	40345588	40345589	Human	1	alternate_id
127322008	CV1159186	deletion	NC_000022.11:g.40345614_40345615del	Adenylosuccinate lyase deficiency [RCV001523323]	benign	22	40345613	40345614	Human	1	alternate_id
127319793	CV1159187	single nucleotide variant	NC_000022.11:g.40345636C>T	Adenylosuccinate lyase deficiency [RCV001522299]	benign	22	40345636	40345636	Human	1	alternate_id
127295588	CV1159188	single nucleotide variant	NC_000022.11:g.40345817G>C	Adenylosuccinate lyase deficiency [RCV001512252]	benign	22	40345817	40345817	Human	1	alternate_id
151763314	CV1339193	single nucleotide variant	NC_000022.11:g.40346165G>T	Adenylosuccinate lyase deficiency [RCV002008120]	uncertain significance	22	40346165	40346165	Human	1	alternate_id
151725777	CV1339529	single nucleotide variant	NC_000022.11:g.40345604G>A	Adenylosuccinate lyase deficiency [RCV002004239]	uncertain significance	22	40345604	40345604	Human	1	alternate_id
151726510	CV1339713	single nucleotide variant	NC_000022.11:g.40345568C>A	Adenylosuccinate lyase deficiency [RCV002004322]	uncertain significance	22	40345568	40345568	Human	1	alternate_id
151804881	CV1339947	single nucleotide variant	NC_000022.11:g.40345931A>G	Adenylosuccinate lyase deficiency [RCV001867461]	uncertain significance	22	40345931	40345931	Human	1	alternate_id
151806202	CV1340199	single nucleotide variant	NC_000022.11:g.40346339G>A	Adenylosuccinate lyase deficiency [RCV001867577]	uncertain significance	22	40346339	40346339	Human	1	alternate_id
151827218	CV1341109	single nucleotide variant	NC_000022.11:g.40346412G>C	Adenylosuccinate lyase deficiency [RCV001955323]	uncertain significance	22	40346412	40346412	Human	1	alternate_id
151792550	CV1341484	single nucleotide variant	NC_000022.11:g.40345994G>C	Adenylosuccinate lyase deficiency [RCV001866379]	uncertain significance	22	40345994	40345994	Human	1	alternate_id
151760506	CV1343237	single nucleotide variant	NC_000022.11:g.40346401G>T	Adenylosuccinate lyase deficiency [RCV002024310]	uncertain significance	22	40346401	40346401	Human	1	alternate_id
151786958	CV1345543	deletion	NC_000022.11:g.40346484_40346493del	Adenylosuccinate lyase deficiency [RCV001897792]	uncertain significance	22	40346483	40346492	Human	1	alternate_id
151852177	CV1346212	single nucleotide variant	NC_000022.11:g.40345971C>T	Adenylosuccinate lyase deficiency [RCV001958142]	uncertain significance	22	40345971	40345971	Human	1	alternate_id
151797193	CV1346429	single nucleotide variant	NC_000022.11:g.40346313A>C	Adenylosuccinate lyase deficiency [RCV001990611]	uncertain significance	22	40346313	40346313	Human	1	alternate_id
151890525	CV1348993	single nucleotide variant	NC_000022.11:g.40346063C>T	Adenylosuccinate lyase deficiency [RCV001943065]	uncertain significance	22	40346063	40346063	Human	1	alternate_id
151803290	CV1351775	single nucleotide variant	NC_000022.11:g.40346422G>C	Adenylosuccinate lyase deficiency [RCV001974105]	uncertain significance	22	40346422	40346422	Human	1	alternate_id
151823735	CV1352271	duplication	NC_000022.11:g.40345635dup	Adenylosuccinate lyase deficiency [RCV002013646]	uncertain significance	22	40345633	40345634	Human	1	alternate_id
151855106	CV1353965	single nucleotide variant	NC_000022.11:g.40346158C>T	Adenylosuccinate lyase deficiency [RCV001979427]	uncertain significance	22	40346158	40346158	Human	1	alternate_id
151725109	CV1356456	single nucleotide variant	NC_000022.11:g.40346289A>G	Adenylosuccinate lyase deficiency [RCV001910234]	uncertain significance	22	40346289	40346289	Human	1	alternate_id
151772424	CV1357217	single nucleotide variant	NC_000022.11:g.40345676G>A	Adenylosuccinate lyase deficiency [RCV001864202]	uncertain significance	22	40345676	40345676	Human	1	alternate_id
151751449	CV1357271	single nucleotide variant	NC_000022.11:g.40345639T>C	Adenylosuccinate lyase deficiency [RCV001894373]	uncertain significance	22	40345639	40345639	Human	1	alternate_id
151826417	CV1363522	single nucleotide variant	NC_000022.11:g.40345993C>T	Adenylosuccinate lyase deficiency [RCV002050292]	uncertain significance	22	40345993	40345993	Human	1	alternate_id
151884915	CV1366968	deletion	NC_000022.10:g.(?_40749057)_(40750351_?)del	Adenylosuccinate lyase deficiency [RCV001941833]	pathogenic				Human	1	alternate_id
151812911	CV1367648	single nucleotide variant	NC_000022.11:g.40345669C>T	Adenylosuccinate lyase deficiency [RCV001878450]	uncertain significance	22	40345669	40345669	Human	1	alternate_id
151724676	CV1369942	single nucleotide variant	NC_000022.11:g.40345495T>C	Adenylosuccinate lyase deficiency [RCV001945369]	uncertain significance	22	40345495	40345495	Human	1	alternate_id
151789764	CV1370185	single nucleotide variant	NC_000022.11:g.40346489C>G	Adenylosuccinate lyase deficiency [RCV001972934]	uncertain significance	22	40346489	40346489	Human	1	alternate_id
151804509	CV1371822	single nucleotide variant	NC_000022.11:g.40346377A>C	Adenylosuccinate lyase deficiency [RCV001953233]	uncertain significance	22	40346377	40346377	Human	1	alternate_id
151803438	CV1375500	single nucleotide variant	NC_000022.11:g.40346402G>C	Adenylosuccinate lyase deficiency [RCV001953140]	uncertain significance	22	40346402	40346402	Human	1	alternate_id
151875420	CV1376137	single nucleotide variant	NC_000022.11:g.40345952G>T	Adenylosuccinate lyase deficiency [RCV002019479]	uncertain significance	22	40345952	40345952	Human	1	alternate_id
151853014	CV1376199	single nucleotide variant	NC_000022.11:g.40345631T>C	Adenylosuccinate lyase deficiency [RCV001996201]	uncertain significance	22	40345631	40345631	Human	1	alternate_id
151831338	CV1377898	single nucleotide variant	NC_000022.11:g.40345694G>A	Adenylosuccinate lyase deficiency [RCV002014338]	uncertain significance	22	40345694	40345694	Human	1	alternate_id
151831458	CV1377911	single nucleotide variant	NC_000022.11:g.40345997G>A	Adenylosuccinate lyase deficiency [RCV002014349]	uncertain significance	22	40345997	40345997	Human	1	alternate_id
151782539	CV1381536	single nucleotide variant	NC_000022.11:g.40345830G>C	Adenylosuccinate lyase deficiency [RCV001875498]	uncertain significance	22	40345830	40345830	Human	1	alternate_id
151756542	CV1381891	single nucleotide variant	NC_000022.11:g.40346427C>G	Adenylosuccinate lyase deficiency [RCV001969717]	uncertain significance	22	40346427	40346427	Human	1	alternate_id
151874140	CV1382419	single nucleotide variant	NC_000022.11:g.40345643T>C	Adenylosuccinate lyase deficiency [RCV002019323]	uncertain significance	22	40345643	40345643	Human	1	alternate_id
151813667	CV1382810	single nucleotide variant	NC_000022.11:g.40345597G>A	Adenylosuccinate lyase deficiency [RCV002049097]	uncertain significance	22	40345597	40345597	Human	1	alternate_id
151713445	CV1384135	single nucleotide variant	NC_000022.11:g.40346189T>G	Adenylosuccinate lyase deficiency [RCV001908478]	uncertain significance	22	40346189	40346189	Human	1	alternate_id
151821719	CV1385179	single nucleotide variant	NC_000022.11:g.40345716C>T	Adenylosuccinate lyase deficiency [RCV001975798]	uncertain significance	22	40345716	40345716	Human	1	alternate_id
151818135	CV1385695	deletion	NC_000022.11:g.40346065_40346067del	Adenylosuccinate lyase deficiency [RCV002013105]	uncertain significance	22	40346065	40346067	Human	1	alternate_id
151732569	CV1386382	single nucleotide variant	NC_000022.11:g.40345560T>C	Adenylosuccinate lyase deficiency [RCV001911031]	uncertain significance	22	40345560	40345560	Human	1	alternate_id
151819699	CV1386895	single nucleotide variant	NC_000022.11:g.40346141T>A	Adenylosuccinate lyase deficiency [RCV001954637]	uncertain significance	22	40346141	40346141	Human	1	alternate_id
151788195	CV1386942	single nucleotide variant	NC_000022.11:g.40345885C>G	Adenylosuccinate lyase deficiency [RCV001931141]	uncertain significance	22	40345885	40345885	Human	1	alternate_id
151726419	CV1387170	single nucleotide variant	NC_000022.11:g.40346247A>G	Adenylosuccinate lyase deficiency [RCV001910393]	uncertain significance	22	40346247	40346247	Human	1	alternate_id
151820470	CV1390819	single nucleotide variant	NC_000022.11:g.40346371G>C	Adenylosuccinate lyase deficiency [RCV001992719]	uncertain significance	22	40346371	40346371	Human	1	alternate_id
151766929	CV1391522	single nucleotide variant	NC_000022.11:g.40345742T>A	Adenylosuccinate lyase deficiency [RCV001970795]	uncertain significance	22	40345742	40345742	Human	1	alternate_id
151830853	CV1391829	deletion	NC_000022.11:g.40345636_40345639del	Adenylosuccinate lyase deficiency [RCV002050710]	uncertain significance	22	40345634	40345637	Human	1	alternate_id
151825765	CV1393814	single nucleotide variant	NC_000022.11:g.40345598C>G	Adenylosuccinate lyase deficiency [RCV002030322]	uncertain significance	22	40345598	40345598	Human	1	alternate_id
151711793	CV1395213	deletion	NC_000022.11:g.40345699del	Adenylosuccinate lyase deficiency [RCV001964450]	uncertain significance	22	40345698	40345698	Human	1	alternate_id
151744052	CV1398275	duplication	NC_000022.11:g.40345647dup	Adenylosuccinate lyase deficiency [RCV002042531]	uncertain significance	22	40345641	40345642	Human	1	alternate_id
151892032	CV1399702	single nucleotide variant	NC_000022.11:g.40346402G>A	Adenylosuccinate lyase deficiency [RCV001943686]	uncertain significance	22	40346402	40346402	Human	1	alternate_id
151826598	CV1400468	single nucleotide variant	NC_000022.11:g.40345805T>C	Adenylosuccinate lyase deficiency [RCV001976238]	uncertain significance	22	40345805	40345805	Human	1	alternate_id
151744563	CV1401594	single nucleotide variant	NC_000022.11:g.40345697C>T	Adenylosuccinate lyase deficiency [RCV001947449]	uncertain significance	22	40345697	40345697	Human	1	alternate_id
151857712	CV1402069	single nucleotide variant	NC_000022.11:g.40345999G>C	Adenylosuccinate lyase deficiency [RCV002017383]	uncertain significance	22	40345999	40345999	Human	1	alternate_id
151744963	CV1406950	single nucleotide variant	NC_000022.11:g.40345624A>C	Adenylosuccinate lyase deficiency [RCV002006207]	uncertain significance	22	40345624	40345624	Human	1	alternate_id
151751752	CV1407057	single nucleotide variant	NC_000022.11:g.40345592G>A	Adenylosuccinate lyase deficiency [RCV002023447]	uncertain significance	22	40345592	40345592	Human	1	alternate_id
151770523	CV1410796	single nucleotide variant	NC_000022.11:g.40345590G>T	Adenylosuccinate lyase deficiency [RCV001971139]	uncertain significance	22	40345590	40345590	Human	1	alternate_id
151714399	CV1411940	single nucleotide variant	NC_000022.11:g.40345462C>T	Adenylosuccinate lyase deficiency [RCV001908672]	uncertain significance	22	40345462	40345462	Human	1	alternate_id
151881523	CV1413844	single nucleotide variant	NC_000022.11:g.40346424G>A	Adenylosuccinate lyase deficiency [RCV002020243]	uncertain significance	22	40346424	40346424	Human	1	alternate_id
151880391	CV1414189	single nucleotide variant	NC_000022.11:g.40345484A>C	Adenylosuccinate lyase deficiency [RCV001999475]	uncertain significance	22	40345484	40345484	Human	1	alternate_id
151772707	CV1414239	single nucleotide variant	NC_000022.11:g.40345968C>G	Adenylosuccinate lyase deficiency [RCV001874608]	uncertain significance	22	40345968	40345968	Human	1	alternate_id
151845142	CV1414967	single nucleotide variant	NC_000022.11:g.40346324G>A	Adenylosuccinate lyase deficiency [RCV001903330]	uncertain significance	22	40346324	40346324	Human	1	alternate_id
151751057	CV1415893	single nucleotide variant	NC_000022.11:g.40346305G>A	Adenylosuccinate lyase deficiency [RCV001927523]	uncertain significance	22	40346305	40346305	Human	1	alternate_id
151820839	CV1416240	single nucleotide variant	NC_000022.11:g.40346360G>A	Adenylosuccinate lyase deficiency [RCV001919554]	uncertain significance	22	40346360	40346360	Human	1	alternate_id
151809871	CV1417279	single nucleotide variant	NC_000022.11:g.40346438G>C	Adenylosuccinate lyase deficiency [RCV002028864]	uncertain significance	22	40346438	40346438	Human	1	alternate_id
151764490	CV1418583	single nucleotide variant	NC_000022.11:g.40346329A>C	Adenylosuccinate lyase deficiency [RCV001928900]	uncertain significance	22	40346329	40346329	Human	1	alternate_id
151792835	CV1420380	single nucleotide variant	NC_000022.11:g.40346280T>A	Adenylosuccinate lyase deficiency [RCV002027383]	uncertain significance	22	40346280	40346280	Human	1	alternate_id
151793829	CV1420498	single nucleotide variant	NC_000022.11:g.40345587A>G	Adenylosuccinate lyase deficiency [RCV002027468]	uncertain significance	22	40345587	40345587	Human	1	alternate_id
151797191	CV1424294	single nucleotide variant	NC_000022.11:g.40345855C>G	Adenylosuccinate lyase deficiency [RCV002047653]	uncertain significance	22	40345855	40345855	Human	1	alternate_id
151847284	CV1428196	single nucleotide variant	NC_000022.11:g.40346004G>A	Adenylosuccinate lyase deficiency [RCV001957502]	uncertain significance	22	40346004	40346004	Human	1	alternate_id
151873661	CV1430371	single nucleotide variant	NC_000022.11:g.40346019G>A	Adenylosuccinate lyase deficiency [RCV002035990]	uncertain significance	22	40346019	40346019	Human	1	alternate_id
151842404	CV1433215	single nucleotide variant	NC_000022.11:g.40345507A>T	Adenylosuccinate lyase deficiency [RCV001994914]	uncertain significance	22	40345507	40345507	Human	1	alternate_id
151709701	CV1433267	duplication	NC_000022.11:g.40346039dup	Adenylosuccinate lyase deficiency [RCV002001696]	uncertain significance	22	40346037	40346038	Human	1	alternate_id
151726871	CV1433609	deletion	NC_000022.11:g.40346032_40346033del	Adenylosuccinate lyase deficiency [RCV001983791]	uncertain significance	22	40346032	40346033	Human	1	alternate_id
151755526	CV1433939	single nucleotide variant	NC_000022.11:g.40346432C>A	Adenylosuccinate lyase deficiency [RCV002043713]	uncertain significance	22	40346432	40346432	Human	1	alternate_id
151789493	CV1434508	single nucleotide variant	NC_000022.11:g.40346409T>C	Adenylosuccinate lyase deficiency [RCV001876371]	uncertain significance	22	40346409	40346409	Human	1	alternate_id
151828301	CV1435710	single nucleotide variant	NC_000022.11:g.40346456C>G	Adenylosuccinate lyase deficiency [RCV001955426]	uncertain significance	22	40346456	40346456	Human	1	alternate_id
151776509	CV1436493	single nucleotide variant	NC_000022.11:g.40346228C>G	Adenylosuccinate lyase deficiency [RCV001971678]	uncertain significance	22	40346228	40346228	Human	1	alternate_id
151777919	CV1436742	single nucleotide variant	NC_000022.11:g.40346116C>A	Adenylosuccinate lyase deficiency [RCV001971806]	uncertain significance	22	40346116	40346116	Human	1	alternate_id
151738227	CV1437370	deletion	NC_000022.11:g.40345820del	Adenylosuccinate lyase deficiency [RCV001870749]	uncertain significance	22	40345820	40345820	Human	1	alternate_id
151725592	CV1437876	single nucleotide variant	NC_000022.11:g.40345513A>C	Adenylosuccinate lyase deficiency [RCV001891674]	uncertain significance	22	40345513	40345513	Human	1	alternate_id
151860629	CV1438552	single nucleotide variant	NC_000022.11:g.40346408C>A	Adenylosuccinate lyase deficiency [RCV001923948]	uncertain significance	22	40346408	40346408	Human	1	alternate_id
151860734	CV1438568	single nucleotide variant	NC_000022.11:g.40346400C>A	Adenylosuccinate lyase deficiency [RCV001923961]	uncertain significance	22	40346400	40346400	Human	1	alternate_id
151814100	CV1440378	single nucleotide variant	NC_000022.11:g.40346432C>G	Adenylosuccinate lyase deficiency [RCV001900239]	uncertain significance	22	40346432	40346432	Human	1	alternate_id
151805950	CV1440569	single nucleotide variant	NC_000022.11:g.40345683T>G	Adenylosuccinate lyase deficiency [RCV001918146]	uncertain significance	22	40345683	40345683	Human	1	alternate_id
151882274	CV1443166	single nucleotide variant	NC_000022.11:g.40346357C>A	Adenylosuccinate lyase deficiency [RCV002037107]	uncertain significance	22	40346357	40346357	Human	1	alternate_id
151869467	CV1443941	single nucleotide variant	NC_000022.11:g.40345972A>G	Adenylosuccinate lyase deficiency [RCV001925013]	uncertain significance	22	40345972	40345972	Human	1	alternate_id
151814640	CV1444503	duplication	NC_000022.11:g.40346482_40346491dup	Adenylosuccinate lyase deficiency [RCV001933546]	uncertain significance	22	40346477	40346478	Human	1	alternate_id
151838492	CV1445409	deletion	NC_000022.11:g.40345969_40345970del	Adenylosuccinate lyase deficiency [RCV001994451]	uncertain significance	22	40345969	40345970	Human	1	alternate_id
151799134	CV1445871	single nucleotide variant	NC_000022.11:g.40345873G>C	Adenylosuccinate lyase deficiency [RCV002011403]	uncertain significance	22	40345873	40345873	Human	1	alternate_id
151800302	CV1446006	single nucleotide variant	NC_000022.11:g.40346374C>G	Adenylosuccinate lyase deficiency [RCV002011504]	uncertain significance	22	40346374	40346374	Human	1	alternate_id
151833593	CV1448045	single nucleotide variant	NC_000022.11:g.40346417C>T	Adenylosuccinate lyase deficiency [RCV001920729]	uncertain significance	22	40346417	40346417	Human	1	alternate_id
151813837	CV1448145	single nucleotide variant	NC_000022.11:g.40346323C>A	Adenylosuccinate lyase deficiency [RCV001918883]	uncertain significance	22	40346323	40346323	Human	1	alternate_id
151760172	CV1448405	single nucleotide variant	NC_000022.11:g.40346386T>A	Adenylosuccinate lyase deficiency [RCV001949043]	uncertain significance	22	40346386	40346386	Human	1	alternate_id
151760683	CV1448636	single nucleotide variant	NC_000022.11:g.40345635T>C	Adenylosuccinate lyase deficiency [RCV001949103]	uncertain significance	22	40345635	40345635	Human	1	alternate_id
151862694	CV1448941	single nucleotide variant	NC_000022.11:g.40346240T>C	Adenylosuccinate lyase deficiency [RCV001959424]	uncertain significance	22	40346240	40346240	Human	1	alternate_id
151819050	CV1449957	single nucleotide variant	NC_000022.11:g.40346478G>C	Adenylosuccinate lyase deficiency [RCV001879033]	uncertain significance	22	40346478	40346478	Human	1	alternate_id
151850929	CV1450587	single nucleotide variant	NC_000022.11:g.40346443C>G	Adenylosuccinate lyase deficiency [RCV001922773]	uncertain significance	22	40346443	40346443	Human	1	alternate_id
151860862	CV1452336	single nucleotide variant	NC_000022.11:g.40345686A>G	Adenylosuccinate lyase deficiency [RCV002017739]	uncertain significance	22	40345686	40345686	Human	1	alternate_id
151822826	CV1452770	single nucleotide variant	NC_000022.11:g.40345958C>T	Adenylosuccinate lyase deficiency [RCV002049971]	uncertain significance	22	40345958	40345958	Human	1	alternate_id
151870425	CV1453744	single nucleotide variant	NC_000022.11:g.40346418G>C	Adenylosuccinate lyase deficiency [RCV001939722]	uncertain significance	22	40346418	40346418	Human	1	alternate_id
151753856	CV1453767	single nucleotide variant	NC_000022.11:g.40345705A>T	Adenylosuccinate lyase deficiency [RCV001913254]	uncertain significance	22	40345705	40345705	Human	1	alternate_id
151754860	CV1453892	single nucleotide variant	NC_000022.11:g.40345933T>C	Adenylosuccinate lyase deficiency [RCV001913349]	uncertain significance	22	40345933	40345933	Human	1	alternate_id
151852325	CV1458971	single nucleotide variant	NC_000022.11:g.40345634T>C	Adenylosuccinate lyase deficiency [RCV002016755]	uncertain significance	22	40345634	40345634	Human	1	alternate_id
151749004	CV1460340	single nucleotide variant	NC_000022.11:g.40346188G>C	Adenylosuccinate lyase deficiency [RCV001894131]	uncertain significance	22	40346188	40346188	Human	1	alternate_id
151749308	CV1460494	single nucleotide variant	NC_000022.11:g.40345770A>G	Adenylosuccinate lyase deficiency [RCV001894164]	uncertain significance	22	40345770	40345770	Human	1	alternate_id
151749359	CV1460523	single nucleotide variant	NC_000022.11:g.40346358T>C	Adenylosuccinate lyase deficiency [RCV001894169]	uncertain significance	22	40346358	40346358	Human	1	alternate_id
151863689	CV1460994	single nucleotide variant	NC_000022.11:g.40346104C>G	Adenylosuccinate lyase deficiency [RCV001905632]	uncertain significance	22	40346104	40346104	Human	1	alternate_id
151725189	CV1462059	single nucleotide variant	NC_000022.11:g.40345595G>T	Adenylosuccinate lyase deficiency [RCV001966498]	uncertain significance	22	40345595	40345595	Human	1	alternate_id
151742047	CV1467019	single nucleotide variant	NC_000022.11:g.40345472C>T	Adenylosuccinate lyase deficiency [RCV001912018]	uncertain significance	22	40345472	40345472	Human	1	alternate_id
151717523	CV1467060	single nucleotide variant	NC_000022.11:g.40345473G>A	Adenylosuccinate lyase deficiency [RCV001909183]	uncertain significance	22	40345473	40345473	Human	1	alternate_id
151825998	CV1467211	single nucleotide variant	NC_000022.11:g.40345481C>T	Adenylosuccinate lyase deficiency [RCV001901336]	uncertain significance	22	40345481	40345481	Human	1	alternate_id
151888606	CV1468430	single nucleotide variant	NC_000022.11:g.40345927G>A	Adenylosuccinate lyase deficiency [RCV002001120]	uncertain significance	22	40345927	40345927	Human	1	alternate_id
151837102	CV1469392	single nucleotide variant	NC_000022.11:g.40346449G>C	Adenylosuccinate lyase deficiency [RCV002051327]	uncertain significance	22	40346449	40346449	Human	1	alternate_id
151807961	CV1474719	single nucleotide variant	NC_000022.11:g.40346474C>A	Adenylosuccinate lyase deficiency [RCV001932915]	uncertain significance	22	40346474	40346474	Human	1	alternate_id
151843163	CV1475558	single nucleotide variant	NC_000022.11:g.40345544T>C	Adenylosuccinate lyase deficiency [RCV001995005]	uncertain significance	22	40345544	40345544	Human	1	alternate_id
151874497	CV1475801	single nucleotide variant	NC_000022.11:g.40345919C>T	Adenylosuccinate lyase deficiency [RCV002019368]	uncertain significance	22	40345919	40345919	Human	1	alternate_id
151878423	CV1476042	single nucleotide variant	NC_000022.11:g.40346377A>T	Adenylosuccinate lyase deficiency [RCV002019828]	uncertain significance	22	40346377	40346377	Human	1	alternate_id
151809700	CV1476449	single nucleotide variant	NC_000022.11:g.40346049T>C	Adenylosuccinate lyase deficiency [RCV001899822]	uncertain significance	22	40346049	40346049	Human	1	alternate_id
151742513	CV1478172	single nucleotide variant	NC_000022.11:g.40346371G>T	Adenylosuccinate lyase deficiency [RCV002005948]	uncertain significance	22	40346371	40346371	Human	1	alternate_id
151747474	CV1478630	single nucleotide variant	NC_000022.11:g.40345905C>T	Adenylosuccinate lyase deficiency [RCV002022998]	uncertain significance	22	40345905	40345905	Human	1	alternate_id
151866667	CV1479167	duplication	NC_000022.11:g.40345803dup	Adenylosuccinate lyase deficiency [RCV002035137]	uncertain significance	22	40345797	40345798	Human	1	alternate_id
151834215	CV1479330	single nucleotide variant	NC_000022.11:g.40346022C>A	Adenylosuccinate lyase deficiency [RCV002051028]	uncertain significance	22	40346022	40346022	Human	1	alternate_id
151792533	CV1482499	microsatellite	NC_000022.11:g.40345621TTTA[2]	Adenylosuccinate lyase deficiency [RCV002047241]	uncertain significance	22	40345619	40345622	Human		alternate_id
151770526	CV1483168	single nucleotide variant	NC_000022.11:g.40345563C>T	Adenylosuccinate lyase deficiency [RCV001914936]	uncertain significance	22	40345563	40345563	Human	1	alternate_id
151714482	CV1488547	single nucleotide variant	NC_000022.11:g.40345661C>T	Adenylosuccinate lyase deficiency [RCV002002658]	uncertain significance	22	40345661	40345661	Human	1	alternate_id
151835222	CV1489229	single nucleotide variant	NC_000022.11:g.40346433G>A	Adenylosuccinate lyase deficiency [RCV001902221]	uncertain significance	22	40346433	40346433	Human	1	alternate_id
151740344	CV1490550	deletion	NC_000022.11:g.40346158del	Adenylosuccinate lyase deficiency [RCV001985180]	uncertain significance	22	40346158	40346158	Human	1	alternate_id
151867840	CV1491911	single nucleotide variant	NC_000022.11:g.40345530C>T	Adenylosuccinate lyase deficiency [RCV002018567]	uncertain significance	22	40345530	40345530	Human	1	alternate_id
151739249	CV1492293	single nucleotide variant	NC_000022.11:g.40346488G>A	Adenylosuccinate lyase deficiency [RCV002042069]	uncertain significance	22	40346488	40346488	Human	1	alternate_id
151777329	CV1493089	single nucleotide variant	NC_000022.11:g.40346276G>A	Adenylosuccinate lyase deficiency [RCV001915551]	uncertain significance	22	40346276	40346276	Human	1	alternate_id
151813689	CV1494640	single nucleotide variant	NC_000022.11:g.40346089C>T	Adenylosuccinate lyase deficiency [RCV001954074]	uncertain significance	22	40346089	40346089	Human	1	alternate_id
151787686	CV1495616	single nucleotide variant	NC_000022.11:g.40345502G>A	Adenylosuccinate lyase deficiency [RCV002026897]	uncertain significance	22	40345502	40345502	Human	1	alternate_id
151765643	CV1495857	single nucleotide variant	NC_000022.11:g.40346489C>T	Adenylosuccinate lyase deficiency [RCV001863574]	uncertain significance	22	40346489	40346489	Human	1	alternate_id
151766016	CV1496043	single nucleotide variant	NC_000022.11:g.40346058C>A	Adenylosuccinate lyase deficiency [RCV001873980]	uncertain significance	22	40346058	40346058	Human	1	alternate_id
151722904	CV1498229	single nucleotide variant	NC_000022.11:g.40346230C>G	Adenylosuccinate lyase deficiency [RCV001983328]	uncertain significance	22	40346230	40346230	Human	1	alternate_id
151756015	CV1498963	single nucleotide variant	NC_000022.11:g.40345764G>A	Adenylosuccinate lyase deficiency [RCV002023854]	uncertain significance	22	40345764	40345764	Human	1	alternate_id
151881596	CV1499996	single nucleotide variant	NC_000022.11:g.40345590G>A	Adenylosuccinate lyase deficiency [RCV001886568]	uncertain significance	22	40345590	40345590	Human	1	alternate_id
151856944	CV1500183	single nucleotide variant	NC_000022.11:g.40346456C>A	Adenylosuccinate lyase deficiency [RCV001938068]	uncertain significance	22	40346456	40346456	Human	1	alternate_id
151724114	CV1500409	duplication	NC_000022.10:g.(?_39621728)_(41077932_?)dup	Adenylosuccinate lyase deficiency [RCV001910122]	uncertain significance				Human	1	alternate_id
151753107	CV1501101	single nucleotide variant	NC_000022.11:g.40345597G>T	Adenylosuccinate lyase deficiency [RCV001969399]	uncertain significance	22	40345597	40345597	Human	1	alternate_id
151734360	CV1501122	single nucleotide variant	NC_000022.11:g.40346353G>A	Adenylosuccinate lyase deficiency [RCV002005113]	uncertain significance	22	40346353	40346353	Human	1	alternate_id
151858308	CV1503455	single nucleotide variant	NC_000022.11:g.40345709C>A	Adenylosuccinate lyase deficiency [RCV001979799]	uncertain significance	22	40345709	40345709	Human	1	alternate_id
151773899	CV1504990	single nucleotide variant	NC_000022.11:g.40345566G>T	Adenylosuccinate lyase deficiency [RCV001988502]	uncertain significance	22	40345566	40345566	Human	1	alternate_id
151879739	CV1506351	single nucleotide variant	NC_000022.11:g.40346381A>C	Adenylosuccinate lyase deficiency [RCV001886299]	uncertain significance	22	40346381	40346381	Human	1	alternate_id
151735835	CV1506914	single nucleotide variant	NC_000022.11:g.40346143T>C	Adenylosuccinate lyase deficiency [RCV001984702]	uncertain significance	22	40346143	40346143	Human	1	alternate_id
151825898	CV1507209	single nucleotide variant	NC_000022.11:g.40346269G>A	Adenylosuccinate lyase deficiency [RCV001955209]	uncertain significance	22	40346269	40346269	Human	1	alternate_id
151733142	CV1509860	single nucleotide variant	NC_000022.11:g.40346493G>A	Adenylosuccinate lyase deficiency [RCV001892467]	uncertain significance	22	40346493	40346493	Human	1	alternate_id
151828706	CV1510196	single nucleotide variant	NC_000022.11:g.40346016G>A	Adenylosuccinate lyase deficiency [RCV001920279]	uncertain significance	22	40346016	40346016	Human	1	alternate_id
151890281	CV1510908	single nucleotide variant	NC_000022.11:g.40346483G>A	Adenylosuccinate lyase deficiency [RCV001963612]	uncertain significance	22	40346483	40346483	Human	1	alternate_id
152168387	CV1525056	single nucleotide variant	NC_000022.11:g.40346167C>T	Adenylosuccinate lyase deficiency [RCV002182427]	likely benign	22	40346167	40346167	Human	1	alternate_id
152032179	CV1546217	single nucleotide variant	NC_000022.11:g.40345889C>T	Adenylosuccinate lyase deficiency [RCV002124697]	benign	22	40345889	40345889	Human	1	alternate_id
152067672	CV1547454	single nucleotide variant	NC_000022.11:g.40346253G>A	Adenylosuccinate lyase deficiency [RCV002074669]	likely benign	22	40346253	40346253	Human	1	alternate_id
152040453	CV1553265	single nucleotide variant	NC_000022.11:g.40345988G>C	Adenylosuccinate lyase deficiency [RCV002087883]	benign	22	40345988	40345988	Human	1	alternate_id
152094054	CV1561708	single nucleotide variant	NC_000022.11:g.40346058C>T	Adenylosuccinate lyase deficiency [RCV002194677]	benign	22	40346058	40346058	Human	1	alternate_id
152095482	CV1597352	single nucleotide variant	NC_000022.11:g.40345590G>C	Adenylosuccinate lyase deficiency [RCV002114644]	likely benign	22	40345590	40345590	Human	1	alternate_id
152027845	CV1607450	single nucleotide variant	NC_000022.11:g.40346432C>T	Adenylosuccinate lyase deficiency [RCV002105032]	likely benign	22	40346432	40346432	Human	1	alternate_id
152108719	CV1623484	insertion	NC_000022.11:g.40345588_40345589insAAAAAAAGG	Adenylosuccinate lyase deficiency [RCV002215174]	benign	22	40345588	40345589	Human	1	alternate_id
152032537	CV1643110	insertion	NC_000022.11:g.40345588_40345589insAG	Adenylosuccinate lyase deficiency [RCV002204990]	benign	22	40345588	40345589	Human	1	alternate_id
152094394	CV1648383	microsatellite	NC_000022.11:g.40346474CCCCG[3]	Adenylosuccinate lyase deficiency [RCV002114507]	benign	22	40346469	40346470	Human		alternate_id
152121479	CV1662233	deletion	NC_000022.11:g.40345597del	Adenylosuccinate lyase deficiency [RCV002117904]	benign	22	40345589	40345589	Human	1	alternate_id
156262239	CV1869125	single nucleotide variant	NC_000022.11:g.40346482C>T	Adenylosuccinate lyase deficiency [RCV003060403]	uncertain significance	22	40346482	40346482	Human	1	alternate_id
156409292	CV1873929	single nucleotide variant	NC_000022.11:g.40346424G>T	Adenylosuccinate lyase deficiency [RCV003071611]	uncertain significance	22	40346424	40346424	Human	1	alternate_id
156014573	CV1876945	single nucleotide variant	NC_000022.11:g.40346135T>G	Adenylosuccinate lyase deficiency [RCV003077289]	uncertain significance	22	40346135	40346135	Human	1	alternate_id
155943060	CV1878711	single nucleotide variant	NC_000022.11:g.40346243G>A	Adenylosuccinate lyase deficiency [RCV003073671]	uncertain significance	22	40346243	40346243	Human	1	alternate_id
156324432	CV1890950	single nucleotide variant	NC_000022.11:g.40346453G>C	Adenylosuccinate lyase deficiency [RCV003089392]	uncertain significance	22	40346453	40346453	Human	1	alternate_id
156215213	CV1903276	single nucleotide variant	NC_000022.11:g.40346398A>G	Adenylosuccinate lyase deficiency [RCV003084768]	uncertain significance	22	40346398	40346398	Human	1	alternate_id
156021692	CV1909585	single nucleotide variant	NC_000022.11:g.40346350C>T	Adenylosuccinate lyase deficiency [RCV002619427]	uncertain significance	22	40346350	40346350	Human	1	alternate_id
156373051	CV1921027	single nucleotide variant	NC_000022.11:g.40346245T>C	Adenylosuccinate lyase deficiency [RCV002603342]	uncertain significance	22	40346245	40346245	Human	1	alternate_id
156371950	CV1923649	single nucleotide variant	NC_000022.11:g.40346389G>A	Adenylosuccinate lyase deficiency [RCV002633468]	uncertain significance	22	40346389	40346389	Human	1	alternate_id
156356633	CV1926968	single nucleotide variant	NC_000022.11:g.40346420C>T	Adenylosuccinate lyase deficiency [RCV002651331]	uncertain significance	22	40346420	40346420	Human	1	alternate_id
156395725	CV1928036	single nucleotide variant	NC_000022.11:g.40346472C>T	Adenylosuccinate lyase deficiency [RCV002654890]	uncertain significance	22	40346472	40346472	Human	1	alternate_id
156363528	CV1931937	single nucleotide variant	NC_000022.11:g.40346406T>C	Adenylosuccinate lyase deficiency [RCV002632845]	uncertain significance	22	40346406	40346406	Human	1	alternate_id
156437302	CV1937441	single nucleotide variant	NC_000022.11:g.40346222C>T	Adenylosuccinate lyase deficiency [RCV003106833]	uncertain significance	22	40346222	40346222	Human	1	alternate_id
156435294	CV1940654	deletion	NC_000022.11:g.40346283_40346292del	Adenylosuccinate lyase deficiency [RCV003104767]	uncertain significance	22	40346281	40346290	Human	1	alternate_id
156447559	CV1942183	deletion	NC_000022.10:g.(?_40741451)_(40756516_?)del	Adenylosuccinate lyase deficiency [RCV003119092]	pathogenic				Human	1	alternate_id
156447560	CV1942184	duplication	NC_000022.10:g.(?_35776672)_(42486826_?)dup	Adenylosuccinate lyase deficiency [RCV003119093]	uncertain significance				Human	1	alternate_id
156201118	CV1952352	insertion	NC_000022.11:g.40345588_40345589insAAAAAAAG	Adenylosuccinate lyase deficiency [RCV002574782]	uncertain significance	22	40345588	40345589	Human	1	alternate_id
156272413	CV1957243	single nucleotide variant	NC_000022.11:g.40346180C>G	Adenylosuccinate lyase deficiency [RCV002577205]	uncertain significance	22	40346180	40346180	Human	1	alternate_id
156341014	CV1961717	single nucleotide variant	NC_000022.11:g.40345573T>C	Adenylosuccinate lyase deficiency [RCV002580505]	uncertain significance	22	40345573	40345573	Human	1	alternate_id
156112066	CV1961729	insertion	NC_000022.11:g.40345588_40345589insAAAAAAAAGG	Adenylosuccinate lyase deficiency [RCV002592811]	uncertain significance	22	40345588	40345589	Human	1	alternate_id
156124689	CV1962625	duplication	NC_000022.11:g.40346037dup	Adenylosuccinate lyase deficiency [RCV002571999]	uncertain significance	22	40346036	40346037	Human	1	alternate_id
156137911	CV1963009	deletion	NC_000022.11:g.40346117_40346120del	Adenylosuccinate lyase deficiency [RCV002572464]	uncertain significance	22	40346117	40346120	Human	1	alternate_id
156127576	CV1963032	single nucleotide variant	NC_000022.11:g.40345670G>T	Adenylosuccinate lyase deficiency [RCV002572104]	uncertain significance	22	40345670	40345670	Human	1	alternate_id
156217959	CV1963441	single nucleotide variant	NC_000022.11:g.40345596G>A	Adenylosuccinate lyase deficiency [RCV002575411]	uncertain significance	22	40345596	40345596	Human	1	alternate_id
156109642	CV1963671	single nucleotide variant	NC_000022.11:g.40345676G>C	Adenylosuccinate lyase deficiency [RCV002571152]	uncertain significance	22	40345676	40345676	Human	1	alternate_id
156150208	CV1964302	deletion	NC_000022.11:g.40345898_40345911del	Adenylosuccinate lyase deficiency [RCV002572872]	uncertain significance	22	40345897	40345910	Human	1	alternate_id
156379618	CV1968393	single nucleotide variant	NC_000022.11:g.40345517T>C	Adenylosuccinate lyase deficiency [RCV002603871]	uncertain significance	22	40345517	40345517	Human	1	alternate_id
156172367	CV1968402	single nucleotide variant	NC_000022.11:g.40345860G>A	Adenylosuccinate lyase deficiency [RCV002594809]	uncertain significance	22	40345860	40345860	Human	1	alternate_id
156083245	CV1972288	single nucleotide variant	NC_000022.11:g.40345827C>T	Adenylosuccinate lyase deficiency [RCV002621611]	uncertain significance	22	40345827	40345827	Human	1	alternate_id
156066186	CV1975436	single nucleotide variant	NC_000022.11:g.40345505C>G	Adenylosuccinate lyase deficiency [RCV002591135]	uncertain significance	22	40345505	40345505	Human	1	alternate_id
156120514	CV1982729	single nucleotide variant	NC_000022.11:g.40345954T>C	Adenylosuccinate lyase deficiency [RCV002622927]	uncertain significance	22	40345954	40345954	Human	1	alternate_id
156091894	CV1984125	single nucleotide variant	NC_000022.11:g.40345594G>C	Adenylosuccinate lyase deficiency [RCV002621888]	uncertain significance	22	40345594	40345594	Human	1	alternate_id
156335320	CV1988220	single nucleotide variant	NC_000022.11:g.40345873G>A	Adenylosuccinate lyase deficiency [RCV002631152]	uncertain significance	22	40345873	40345873	Human	1	alternate_id
156401797	CV1992235	single nucleotide variant	NC_000022.11:g.40345591G>T	Adenylosuccinate lyase deficiency [RCV002605678]	uncertain significance	22	40345591	40345591	Human	1	alternate_id
156030308	CV2001115	single nucleotide variant	NC_000022.11:g.40346147T>C	Adenylosuccinate lyase deficiency [RCV002658631]	uncertain significance	22	40346147	40346147	Human	1	alternate_id
156283157	CV2001518	single nucleotide variant	NC_000022.11:g.40345505C>T	Adenylosuccinate lyase deficiency [RCV002646912]	uncertain significance	22	40345505	40345505	Human	1	alternate_id
156356288	CV2001532	single nucleotide variant	NC_000022.11:g.40345930C>T	Adenylosuccinate lyase deficiency [RCV002675947]	uncertain significance	22	40345930	40345930	Human	1	alternate_id
156372923	CV2003624	single nucleotide variant	NC_000022.11:g.40346492T>G	Adenylosuccinate lyase deficiency [RCV002653053]	uncertain significance	22	40346492	40346492	Human	1	alternate_id
155942129	CV2006438	single nucleotide variant	NC_000022.11:g.40345917A>C	Adenylosuccinate lyase deficiency [RCV002685530]	uncertain significance	22	40345917	40345917	Human	1	alternate_id
156397706	CV2009199	single nucleotide variant	NC_000022.11:g.40345557A>G	Adenylosuccinate lyase deficiency [RCV002725730]	uncertain significance	22	40345557	40345557	Human	1	alternate_id
156303164	CV2013570	single nucleotide variant	NC_000022.11:g.40346019G>T	Adenylosuccinate lyase deficiency [RCV002716153]	uncertain significance	22	40346019	40346019	Human	1	alternate_id
156044636	CV2026539	deletion	NC_000022.11:g.40346491del	Adenylosuccinate lyase deficiency [RCV002736308]	uncertain significance	22	40346489	40346489	Human	1	alternate_id
156090503	CV2034386	single nucleotide variant	NC_000022.11:g.40345601C>G	Adenylosuccinate lyase deficiency [RCV002760927]	uncertain significance	22	40345601	40345601	Human	1	alternate_id
156032713	CV2037041	insertion	NC_000022.11:g.40345588_40345589insAGG	Adenylosuccinate lyase deficiency [RCV002781176]	uncertain significance	22	40345588	40345589	Human	1	alternate_id
155958161	CV2040274	insertion	NC_000022.11:g.40345588_40345589insAAAAAAGG	Adenylosuccinate lyase deficiency [RCV002776127]	uncertain significance	22	40345588	40345589	Human	1	alternate_id
156137629	CV2040578	deletion	NC_000022.11:g.40346117_40346119del	Adenylosuccinate lyase deficiency [RCV002786404]	uncertain significance	22	40346117	40346119	Human	1	alternate_id
156252564	CV2041124	single nucleotide variant	NC_000022.11:g.40346027G>A	Adenylosuccinate lyase deficiency [RCV002806060]	uncertain significance	22	40346027	40346027	Human	1	alternate_id
155952176	CV2043778	duplication	NC_000022.11:g.40345597dup	Adenylosuccinate lyase deficiency [RCV002775831]	uncertain significance	22	40345588	40345589	Human	1	alternate_id
156017575	CV2044202	single nucleotide variant	NC_000022.11:g.40346390G>A	Adenylosuccinate lyase deficiency [RCV002795426]	uncertain significance	22	40346390	40346390	Human	1	alternate_id
156134023	CV2044231	insertion	NC_000022.11:g.40345588_40345589insAAG	Adenylosuccinate lyase deficiency [RCV002786280]	uncertain significance	22	40345588	40345589	Human	1	alternate_id
156289271	CV2050335	deletion	NC_000022.11:g.40345636_40345637del	Adenylosuccinate lyase deficiency [RCV002807276]	uncertain significance	22	40345635	40345636	Human	1	alternate_id
155933752	CV2064231	single nucleotide variant	NC_000022.11:g.40345924C>T	Adenylosuccinate lyase deficiency [RCV002861291]	uncertain significance	22	40345924	40345924	Human	1	alternate_id
155935283	CV2064446	single nucleotide variant	NC_000022.11:g.40345571T>G	Adenylosuccinate lyase deficiency [RCV002861391]	uncertain significance	22	40345571	40345571	Human	1	alternate_id
155957150	CV2066330	single nucleotide variant	NC_000022.11:g.40345856C>T	Adenylosuccinate lyase deficiency [RCV002816578]	uncertain significance	22	40345856	40345856	Human	1	alternate_id
156045816	CV2068058	single nucleotide variant	NC_000022.11:g.40346083C>G	Adenylosuccinate lyase deficiency [RCV002846264]	uncertain significance	22	40346083	40346083	Human	1	alternate_id
155983996	CV2070267	single nucleotide variant	NC_000022.11:g.40345658T>A	Adenylosuccinate lyase deficiency [RCV002842657]	uncertain significance	22	40345658	40345658	Human	1	alternate_id
156212698	CV2080121	single nucleotide variant	NC_000022.11:g.40346457G>A	Adenylosuccinate lyase deficiency [RCV002875545]	uncertain significance	22	40346457	40346457	Human	1	alternate_id
156228391	CV2081217	single nucleotide variant	NC_000022.11:g.40345847C>G	Adenylosuccinate lyase deficiency [RCV002853477]	uncertain significance	22	40345847	40345847	Human	1	alternate_id
156015435	CV2087064	single nucleotide variant	NC_000022.11:g.40346236G>A	Adenylosuccinate lyase deficiency [RCV002866331]	uncertain significance	22	40346236	40346236	Human	1	alternate_id
156000748	CV2092204	single nucleotide variant	NC_000022.11:g.40346287G>A	Adenylosuccinate lyase deficiency [RCV002908618]	uncertain significance	22	40346287	40346287	Human	1	alternate_id
156135963	CV2097356	single nucleotide variant	NC_000022.11:g.40346418G>T	Adenylosuccinate lyase deficiency [RCV002890124]	uncertain significance	22	40346418	40346418	Human	1	alternate_id
156103360	CV2099374	single nucleotide variant	NC_000022.11:g.40346275G>A	Adenylosuccinate lyase deficiency [RCV002913488]	uncertain significance	22	40346275	40346275	Human	1	alternate_id
156127321	CV2104228	single nucleotide variant	NC_000022.11:g.40346052A>C	Adenylosuccinate lyase deficiency [RCV002914410]	uncertain significance	22	40346052	40346052	Human	1	alternate_id
156125871	CV2112328	duplication	NC_000022.11:g.40346477_40346491dup	Adenylosuccinate lyase deficiency [RCV002928001]	uncertain significance	22	40346472	40346473	Human	1	alternate_id
156332716	CV2112828	single nucleotide variant	NC_000022.11:g.40346434C>T	Adenylosuccinate lyase deficiency [RCV002938458]	uncertain significance	22	40346434	40346434	Human	1	alternate_id
156378992	CV2117807	single nucleotide variant	NC_000022.11:g.40346473G>C	Adenylosuccinate lyase deficiency [RCV002942990]	uncertain significance	22	40346473	40346473	Human	1	alternate_id
156379002	CV2117812	microsatellite	NC_000022.11:g.40345663CT[1]	Adenylosuccinate lyase deficiency [RCV002942991]	uncertain significance	22	40345663	40345664	Human		alternate_id
156388896	CV2122257	single nucleotide variant	NC_000022.11:g.40346161G>C	Adenylosuccinate lyase deficiency [RCV002943706]	uncertain significance	22	40346161	40346161	Human	1	alternate_id
156112550	CV2136257	single nucleotide variant	NC_000022.11:g.40345723C>A	Adenylosuccinate lyase deficiency [RCV003002655]	uncertain significance	22	40345723	40345723	Human	1	alternate_id
156067730	CV2147811	single nucleotide variant	NC_000022.11:g.40345910G>A	Adenylosuccinate lyase deficiency [RCV003037470]	uncertain significance	22	40345910	40345910	Human	1	alternate_id
156355045	CV2154213	single nucleotide variant	NC_000022.11:g.40345709C>G	Adenylosuccinate lyase deficiency [RCV003031169]	uncertain significance	22	40345709	40345709	Human	1	alternate_id
156318779	CV2155227	deletion	NC_000022.11:g.40345463del	Adenylosuccinate lyase deficiency [RCV003011555]	uncertain significance	22	40345463	40345463	Human	1	alternate_id
156232239	CV2157013	single nucleotide variant	NC_000022.11:g.40345987C>A	Adenylosuccinate lyase deficiency [RCV003025687]	uncertain significance	22	40345987	40345987	Human	1	alternate_id
155941163	CV2158074	single nucleotide variant	NC_000022.11:g.40345994G>A	Adenylosuccinate lyase deficiency [RCV003014276]	uncertain significance	22	40345994	40345994	Human	1	alternate_id
155971273	CV2158164	single nucleotide variant	NC_000022.11:g.40345600A>G	Adenylosuccinate lyase deficiency [RCV003033447]	uncertain significance	22	40345600	40345600	Human	1	alternate_id
156195101	CV2158779	single nucleotide variant	NC_000022.11:g.40345982A>C	Adenylosuccinate lyase deficiency [RCV003041775]	uncertain significance	22	40345982	40345982	Human	1	alternate_id
155949384	CV2164815	single nucleotide variant	NC_000022.11:g.40345822G>A	Adenylosuccinate lyase deficiency [RCV003032346]	uncertain significance	22	40345822	40345822	Human	1	alternate_id
155950712	CV2164954	single nucleotide variant	NC_000022.11:g.40346465G>A	Adenylosuccinate lyase deficiency [RCV003032421]	uncertain significance	22	40346465	40346465	Human	1	alternate_id
156091464	CV2167053	single nucleotide variant	NC_000022.11:g.40345592G>C	Adenylosuccinate lyase deficiency [RCV003038232]	uncertain significance	22	40345592	40345592	Human	1	alternate_id
156304691	CV2167420	single nucleotide variant	NC_000022.11:g.40345513A>G	Adenylosuccinate lyase deficiency [RCV003045722]	uncertain significance	22	40345513	40345513	Human	1	alternate_id
156187266	CV2169521	single nucleotide variant	NC_000022.11:g.40345978C>G	Adenylosuccinate lyase deficiency [RCV003041540]	uncertain significance	22	40345978	40345978	Human	1	alternate_id
156084500	CV2170474	single nucleotide variant	NC_000022.11:g.40346117C>T	Adenylosuccinate lyase deficiency [RCV003038000]	uncertain significance	22	40346117	40346117	Human	1	alternate_id
156090260	CV2172803	single nucleotide variant	NC_000022.11:g.40345651G>A	Adenylosuccinate lyase deficiency [RCV003054333]	uncertain significance	22	40345651	40345651	Human	1	alternate_id
156075965	CV2173491	duplication	NC_000022.11:g.40345714_40345716dup	Adenylosuccinate lyase deficiency [RCV003053865]	uncertain significance	22	40345711	40345712	Human	1	alternate_id
156109932	CV2177290	single nucleotide variant	NC_000022.11:g.40346304G>A	Adenylosuccinate lyase deficiency [RCV003055051]	uncertain significance	22	40346304	40346304	Human	1	alternate_id
156015544	CV2177441	single nucleotide variant	NC_000022.11:g.40346011A>G	Adenylosuccinate lyase deficiency [RCV003035465]	uncertain significance	22	40346011	40346011	Human	1	alternate_id
156178904	CV2177649	single nucleotide variant	NC_000022.11:g.40346436C>T	Adenylosuccinate lyase deficiency [RCV003057464]	uncertain significance	22	40346436	40346436	Human	1	alternate_id
156298918	CV2180638	single nucleotide variant	NC_000022.11:g.40346200C>T	Adenylosuccinate lyase deficiency [RCV003027996]	uncertain significance	22	40346200	40346200	Human	1	alternate_id
156108051	CV2181140	single nucleotide variant	NC_000022.11:g.40345926G>A	Adenylosuccinate lyase deficiency [RCV003054981]	uncertain significance	22	40345926	40345926	Human	1	alternate_id
156134505	CV2181431	single nucleotide variant	NC_000022.11:g.40346385C>A	Adenylosuccinate lyase deficiency [RCV003039816]	uncertain significance	22	40346385	40346385	Human	1	alternate_id
156240075	CV2188812	single nucleotide variant	NC_000022.11:g.40345877G>A	Adenylosuccinate lyase deficiency [RCV003059625]	uncertain significance	22	40345877	40345877	Human	1	alternate_id
156240482	CV2188843	single nucleotide variant	NC_000022.11:g.40345514C>T	Adenylosuccinate lyase deficiency [RCV003059639]	uncertain significance	22	40345514	40345514	Human	1	alternate_id
156162959	CV2191960	single nucleotide variant	NC_000022.11:g.40345606G>A	Adenylosuccinate lyase deficiency [RCV003040777]	uncertain significance	22	40345606	40345606	Human	1	alternate_id
405109897	CV2868764	deletion	NC_000022.11:g.40345622_40345627del	Adenylosuccinate lyase deficiency [RCV003499100]	uncertain significance	22	40345621	40345626	Human	1	alternate_id
405112595	CV2885025	single nucleotide variant	NC_000022.11:g.40346188G>T	Adenylosuccinate lyase deficiency [RCV003499560]	uncertain significance	22	40346188	40346188	Human	1	alternate_id
405111360	CV2926688	single nucleotide variant	NC_000022.11:g.40345726G>A	Adenylosuccinate lyase deficiency [RCV003499358]	uncertain significance	22	40345726	40345726	Human	1	alternate_id
405049455	CV2944826	single nucleotide variant	NC_000022.11:g.40345895G>A	Adenylosuccinate lyase deficiency [RCV003603287]	uncertain significance	22	40345895	40345895	Human	1	alternate_id
404993739	CV3008202	single nucleotide variant	NC_000022.11:g.40346450C>T	Adenylosuccinate lyase deficiency [RCV003604816]	uncertain significance	22	40346450	40346450	Human	1	alternate_id
405040320	CV3019905	single nucleotide variant	NC_000022.11:g.40345998C>A	Adenylosuccinate lyase deficiency [RCV003602597]	uncertain significance	22	40345998	40345998	Human	1	alternate_id
405877501	CV3405686	deletion	NC_000022.10:g.(?_40749057)_(40756516_?)del	Adenylosuccinate lyase deficiency [RCV004582513]	pathogenic				Human	1	alternate_id
405877473	CV3405697	deletion	NC_000022.10:g.(?_40754848)_(40762526_?)del	Adenylosuccinate lyase deficiency [RCV004582524]	pathogenic				Human	1	alternate_id
407428344	CV3410169	deletion	NC_000022.10:g.(40757640_40758984)_(40761061_40762439)del	Adenylosuccinate lyase deficiency [RCV004587776]	pathogenic				Human	1	alternate_id
597894616	CV3744100	single nucleotide variant	NC_000022.11:g.40345509A>G	Adenylosuccinate lyase deficiency [RCV005071570]	uncertain significance	22	40345509	40345509	Human	1	alternate_id
13494255	CV471313	duplication	NC_000022.10:g.(?_40742514)_(40762546_?)dup	Adenylosuccinate lyase deficiency [RCV000536272]	uncertain significance				Human	1	alternate_id
14716605	CV670900	single nucleotide variant	NC_000022.11:g.40346413C>T	Adenylosuccinate lyase deficiency [RCV001517151]\|not provided [RCV000829785]	benign	22	40346413	40346413	Human	1	alternate_id
26890194	CV821461	duplication	NC_000022.11:g.(?_40346510)_(40353137_?)dup	Adenylosuccinate lyase deficiency [RCV001031566]	uncertain significance				Human	1	alternate_id
26891552	CV821462	deletion	NC_000022.11:g.(?_40346510)_(40366542_?)del	Adenylosuccinate lyase deficiency [RCV001032158]	pathogenic				Human	1	alternate_id
26891371	CV821464	duplication	NC_000022.11:g.(?_40364256)_(40366542_?)dup	Adenylosuccinate lyase deficiency [RCV001032082]	uncertain significance				Human	1	alternate_id
28873303	CV891838	single nucleotide variant	NC_000022.11:g.40346495C>A	Adenylosuccinate lyase deficiency [RCV001146692]	uncertain significance	22	40346495	40346495	Human	1	alternate_id

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