Adsl Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

882 records found for search term Adsl

Refine Term:

Sort By:

Export

CSV

TAB

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message