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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: cerebral organic aciduria (MONDO:0019213)
Parent Node: disease of catalytic activity (MONDO:0044976)
Parent Node: inborn disorder of purine metabolism (MONDO:0019236)
Parent Node: inherited amino acid metabolic disorder (MONDO:0004736)
Parent Node: rare disease with autism (MONDO:0015878)
Parent Node: syndromic neurometabolic disease with non-X-linked intellectual disability (MONDO:0015919)
..Starting node ..adenylosuccinate lyase deficiency ()
Child Nodes:
Sister Nodes:
..3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia ()
..adenylosuccinate lyase deficiency ()
..AICA-ribosiduria ()
..combined oxidative phosphorylation defect type 27 () L: 00519;
..guanidinoacetate methyltransferase deficiency ()
..leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome () L: 00418;
..non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature ()
..PGM3-CDG ()
..sialidosis type 2 ()
..SLC39A8-CDG ()
..Smith-Lemli-Opitz syndrome ()
..Zellweger-like syndrome without peroxisomal anomalies ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

7068

Name:

adenylosuccinate lyase deficiency

Definition:

Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.

Alternative IDs:

103050

ParentIDs:

TreeNumbers:

Synonyms:

adenylosuccinase deficiency; adenylosuccinase deficiency; ADSLD; adenylosuccinase lyase deficiency; adenylosuccinate lyase deficiency; ADSL deficiency; Adsl deficiency; ADSLD; inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorde

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 103050;
MSeqDR :
Genes: ADSL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000718	Aggressive behavior
4	HP:0000463	Anteverted nares
5	HP:0000717	Autism NAMDC: Autism
6	HP:0000248	Brachycephaly
7	HP:0001348	Brisk reflexes
8	HP:0001272	Cerebellar atrophy
9	HP:0002059	Cerebral atrophy
10	HP:0006808	Cerebral hypomyelination
11	HP:0003429	CNS hypomyelination
12	HP:0000750	Delayed speech and language development NAMDC: Delayed language
13	HP:0002066	Gait ataxia
14	HP:0001290	Generalized hypotonia
15	HP:0001263	Global developmental delay NAMDC: Mental retardation
16	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
17	HP:0001510	Growth delay NAMDC: Growth delay
18	HP:0040082	Happy demeanor	HP:0040283
19	HP:0000752	Hyperactivity
20	HP:0002540	Inability to walk
21	HP:0000748	Inappropriate laughter
22	HP:0001249	Intellectual disability
23	HP:0000343	Long philtrum
24	HP:0000369	Low-set ears
25	HP:0000252	Microcephaly	HP:0040283
26	HP:0001336	Myoclonus NAMDC: Myoclonus
27	HP:0000639	Nystagmus
28	HP:0002179	Opisthotonus
29	HP:0000817	Poor eye contact
30	HP:0005487	Prominent metopic ridge
31	HP:0001250	Seizures NAMDC: Seizures
32	HP:0000742	Self-mutilation
33	HP:0011344	Severe global developmental delay
34	HP:0003196	Short nose
35	HP:0003202	Skeletal muscle atrophy
36	HP:0000319	Smooth philtrum
37	HP:0000486	Strabismus
38	HP:0000219	Thin upper lip vermilion
39	HP:0000154	Wide mouth

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)	158	ADSL	Pathogenic/Likely pathogenic	28941471	RCV000002569\|RCV000186674;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40754954	40754954	NC_000022.10:g.40754954G>A	ClinGen:CA115568,UniProtKB:P30566#VAR_007974,OMIM:608222.0005
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)	158	ADSL	Pathogenic/Likely pathogenic	1601586359	RCV000990446;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756429	40756429	22:g.40756429C>T	-
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	158	ADSL	Pathogenic/Likely pathogenic	119450944	RCV000002570\|RCV002280090\|RCV003398421;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900\|	22	40756440	40756440	22:g.40756440A>G	OMIM:608222.0006,ClinGen:CA115569,UniProtKB:P30566#VAR_007975	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)	158	ADSL	Pathogenic/Likely pathogenic	373458753	RCV000293106\|RCV000727198;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757536	40757536	22:g.40757536C>T	ClinGen:CA10247868,UniProtKB:P30566#VAR_007976	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1095C>A (p.Tyr365Ter)	158	ADSL	Pathogenic/Likely pathogenic	879257322	RCV000760928\|RCV002536581;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759069	40759069	NC_000022.10:g.40759069C>A	-
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)	158	ADSL	Pathogenic/Likely pathogenic	755492501	RCV001268745\|RCV001039703;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760364	40760364	22:g.40760364C>T	-
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)	158	ADSL	Pathogenic/Likely pathogenic	763542069	RCV000186690\|RCV000779373;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760365	40760365	NC_000022.10:g.40760365G>A	ClinGen:CA313112,UniProtKB:P30566#VAR_017088
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)	158	ADSL	Pathogenic/Likely pathogenic	796052252	RCV000186709\|RCV001036968;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761029	40761031	NC_000022.10:g.40761029CTT[2]	ClinGen:CA313140
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)	158	ADSL	Pathogenic/Likely pathogenic	372895468	RCV000186712\|RCV001781543;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761041	40761041	NC_000022.10:g.40761041C>G	ClinGen:CA313145,UniProtKB:P30566#VAR_016932
NC_000022.10:g.(?_40741451)_(40756516_?)del	158	ADSL	Pathogenic	-1	RCV003119092;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741451	40756516		-
NC_000022.11:g.(?_40346510)_(40366542_?)del	158	ADSL	Pathogenic	-1	RCV001032158;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742514	40762546	-1	-
NM_000026.4(ADSL):c.135G>A (p.Trp45Ter)	158	ADSL	Pathogenic	774435749	RCV001220597;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742697	40742697	22:g.40742697G>A	-
NM_000026.4(ADSL):c.151C>T (p.Gln51Ter)	158	ADSL	Pathogenic	1193437955	RCV001956156;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742713	40742713	40742713	-
NM_000026.4(ADSL):c.187del (p.Gln63fs)	158	ADSL	Pathogenic	2146622848	RCV001923611;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745868	40745868	40745867	-
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)	158	ADSL	Pathogenic	1036185928	RCV000434653\|RCV000679862;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745935	40745935	22:g.40745935C>T	ClinGen:CA16608180	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)	158	ADSL	Pathogenic	1601552154	RCV000995690;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745950	40745950	22:g.40745950G>A	-
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala)	158	ADSL	Pathogenic	119450942	RCV000002567;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745980	40745980	22:g.40745980C>G	ClinGen:CA115566,UniProtKB:P30566#VAR_017079,OMIM:608222.0003	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)	158	ADSL	Pathogenic	374259530	RCV000186703\|RCV000193076\|RCV000415212\|RCV002513975;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|Human Phenotype Ontology:HP:0011344,MedGen:C1837397; Human Phenotype Ontology:HP:0002540,MedGen:C0560046; Human Phenotype Ontology:HP:0003698,MedGen:C0241237; Human Phenotype Ontol	22	40746022	40746022	NC_000022.10:g.40746022T>C	ClinGen:CA206321,UniProtKB:P30566#VAR_017080
NC_000022.10:g.(?_40749057)_(40750351_?)del	158	ADSL	Pathogenic	-1	RCV001941833;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749057	40750351	-1	-
NM_000026.4(ADSL):c.445C>T (p.Arg149Ter)	158	ADSL	Pathogenic	-1	RCV003072072;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750294	40750294	NC_000022.10:g.40750294C>T	-
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)	158	ADSL	Pathogenic	1569096551	RCV000707388;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754935	40754935	22:g.40754935C>T	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)	158	ADSL	Pathogenic	750614500	RCV000186710\|RCV000763484\|RCV003390914;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|	22	40754953	40754953	22:g.40754953C>T	ClinGen:CA313142	CN517202 not provided;
NM_000026.4(ADSL):c.628C>T (p.Gln210Ter)	158	ADSL	Pathogenic	1410270058	RCV002037760;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755013	40755013	40755013	-
NM_000026.4(ADSL):c.666del (p.Asp223fs)	158	ADSL	Pathogenic	1268082439	RCV001383241;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755274	40755274	40755273	-
NM_000026.4(ADSL):c.674T>C (p.Met225Thr)	158	ADSL	Pathogenic	119450945	RCV000002572;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755283	40755283	22:g.40755283T>C	ClinGen:CA115570,OMIM:608222.0008	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.701+1G>A	158	ADSL	Pathogenic	546878201	RCV001202658;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755311	40755311	22:g.40755311G>A	-
NM_000026.4(ADSL):c.701+1G>T	158	ADSL	Pathogenic	-1	RCV002726026;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755311	40755311	NC_000022.10:g.40755311G>T	-
NM_000026.4(ADSL):c.733C>T (p.Arg245Ter)	158	ADSL	Pathogenic	2146658733	RCV001942110;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756437	40756437	40756437	-
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)	158	ADSL	Pathogenic	746501563	RCV001382689;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757286	40757286	40757286	-
NM_000026.4(ADSL):c.802G>C (p.Asp268His)	158	ADSL	Pathogenic	-1	RCV003064660;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757286	40757286	NC_000022.10:g.40757286G>C	-
NM_000026.4(ADSL):c.807dup (p.Arg270fs)	158	ADSL	Pathogenic	-1	RCV002675827;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757290	40757291	NC_000022.10:g.40757291dup	-
NM_000026.4(ADSL):c.829G>T (p.Glu277Ter)	158	ADSL	Pathogenic	2044777708	RCV001384334;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757313	40757313	40757313	-
NM_000026.4(ADSL):c.955del (p.Leu319fs)	158	ADSL	Pathogenic	1569099793	RCV001387368;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757584	40757584	40757583	-
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)	158	ADSL	Pathogenic	2044792794	RCV001050339;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757606	40757606	22:g.40757606G>A	-
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)	158	ADSL	Pathogenic	761493155	RCV000186680\|RCV001209833;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757638	40757638	NC_000022.10:g.40757638C>T	ClinGen:CA313099
NM_000026.4(ADSL):c.1026del (p.Glu343fs)	158	ADSL	Pathogenic	2146667709	RCV001382329;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758999	40758999	40758998	-
NM_000026.4(ADSL):c.1187del (p.Arg396fs)	158	ADSL	Pathogenic	2044916556	RCV001203918;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760365	40760365	22:g.40760365_40760365del	-
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)	158	ADSL	Pathogenic	747964752	RCV001950883;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760914	40760914	40760914	-
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)	158	ADSL	Pathogenic	796052248	RCV000186692\|RCV001253786;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760968	40760968	NC_000022.10:g.40760968C>T	ClinGen:CA313115
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)	158	ADSL	Pathogenic	119450941	RCV000002566\|RCV000186693\|RCV002512680;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	22	40760969	40760969	22:g.40760969G>A	ClinGen:CA115565,UniProtKB:P30566#VAR_007978,OMIM:608222.0002,ClinVar:208488	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)	158	ADSL	Pathogenic	119450940	RCV000002565;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761004	40761004	22:g.40761004T>C	ClinGen:CA115564,UniProtKB:P30566#VAR_000680,OMIM:608222.0001	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.-49T>C	158	ADSL	Likely pathogenic	1272053459	RCV001266879\|RCV002221270;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742514	40742514	22:g.40742514T>C	OMIM:608222.0007
NM_000026.4(ADSL):c.78G>A (p.Met26Ile)	158	ADSL	Likely pathogenic	779612414	RCV001918325;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742640	40742640	40742640	-
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)	158	ADSL	Likely pathogenic	1035500320	RCV001366584;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746023	40746023	40746023	-
NM_000026.4(ADSL):c.357+1G>A	158	ADSL	Likely pathogenic	1275901345	RCV002017498;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746040	40746040	40746040	-
NM_000026.4(ADSL):c.358-1G>C	158	ADSL	Likely pathogenic	2146634231	RCV001785896;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749076	40749076	40749076	-
NM_000026.4(ADSL):c.402+1G>T	158	ADSL	Likely pathogenic	761551284	RCV000810236\|RCV003329344;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40749122	40749122	22:g.40749122G>T	-
NM_000026.4(ADSL):c.403-1G>C	158	ADSL	Likely pathogenic	-1	RCV002847106;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750251	40750251	NC_000022.10:g.40750251G>C	-
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)	158	ADSL	Likely pathogenic	563054392	RCV001300027;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750271	40750271	40750271	-
NM_000026.4(ADSL):c.482+1G>C	158	ADSL	Likely pathogenic	-1	RCV003236504;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750332	40750332		-
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)	158	ADSL	Likely pathogenic	1465152683	RCV002010959;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754965	40754965	40754965	-
NM_000026.4(ADSL):c.702-2A>G	158	ADSL	Likely pathogenic	1268264761	RCV002030152;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756404	40756404	40756404	-
NM_000026.4(ADSL):c.994G>C (p.Asp332His)	158	ADSL	Likely pathogenic	776496275	RCV000990447;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757623	40757623	22:g.40757623G>C	ClinVar:208488	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1090G>A (p.Val364Met)	158	ADSL	Likely pathogenic	370851726	RCV001971171;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759064	40759064	40759064	-
NC_000022.10:g.(?_40760260)_(40762546_?)del	158	ADSL	Likely pathogenic	-1	RCV001377197;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760260	40762546	-1	-
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del)	158	ADSL	Likely pathogenic	1601596522	RCV000990448;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760330	40760332	22:g.40760330_40760332del	-
NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly)	158	ADSL	Likely pathogenic	-1	RCV003007416;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761046	40761046	NC_000022.10:g.40761046C>G	-
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)	158	ADSL	Likely pathogenic	775671027	RCV002010963;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761047	40761047	40761047	-
NC_000022.10:g.(?_35776672)_(42486826_?)dup	158	ADSL	Uncertain significance	-1	RCV003119093;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	35776672	42486826		-
NC_000022.10:g.(?_39621728)_(41077932_?)dup	158	ADSL	Uncertain significance	-1	RCV001910122;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	39621728	41077932	-1	-
NC_000022.11:g.40345462C>T	158	ADSL	Uncertain significance	925724663	RCV001908672;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741466	40741466		-
NC_000022.11:g.40345463del	158	ADSL	Uncertain significance	-1	RCV003011555;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741467	40741467		-
NC_000022.11:g.40345472C>T	158	ADSL	Uncertain significance	1437272102	RCV001912018;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741476	40741476		-
NC_000022.11:g.40345473G>A	158	ADSL	Uncertain significance	934394588	RCV001909183;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741477	40741477		-
NC_000022.11:g.40345481C>T	158	ADSL	Uncertain significance	2146607081	RCV001901336;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741485	40741485		-
NC_000022.11:g.40345484A>C	158	ADSL	Uncertain significance	1386684080	RCV001999475;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741488	40741488		-
NC_000022.11:g.40345495T>C	158	ADSL	Uncertain significance	2146607102	RCV001945369;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741499	40741499		-
NC_000022.11:g.40345499dup	158	ADSL	Benign	112981874	RCV001518384;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741502	40741503		-
NC_000022.11:g.40345502G>A	158	ADSL	Uncertain significance	2044101814	RCV002026897;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741506	40741506		-
NC_000022.11:g.40345505C>G	158	ADSL	Uncertain significance	-1	RCV002591135;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741509	40741509		-
NC_000022.11:g.40345505C>T	158	ADSL	Uncertain significance	-1	RCV002646912;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741509	40741509		-
NC_000022.11:g.40345507A>T	158	ADSL	Uncertain significance	2044102028	RCV001994914;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741511	40741511		-
NC_000022.11:g.40345513A>C	158	ADSL	Uncertain significance	988634184	RCV001891674;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741517	40741517		-
NC_000022.11:g.40345513A>G	158	ADSL	Uncertain significance	-1	RCV003045722;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741517	40741517		-
NC_000022.11:g.40345514C>T	158	ADSL	Uncertain significance	-1	RCV003059639;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741518	40741518		-
NC_000022.11:g.40345516C>T	158	ADSL	Benign	751367	RCV001515756;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741520	40741520		-
NC_000022.11:g.40345517T>C	158	ADSL	Uncertain significance	-1	RCV002603871;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741521	40741521		-
NC_000022.11:g.40345530C>T	158	ADSL	Uncertain significance	753742645	RCV002018567;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741534	40741534		-
NC_000022.11:g.40345544T>C	158	ADSL	Uncertain significance	2044103206	RCV001995005;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741548	40741548		-
NC_000022.11:g.40345557A>G	158	ADSL	Uncertain significance	-1	RCV002725730;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741561	40741561		-
NC_000022.11:g.40345560T>C	158	ADSL	Uncertain significance	2044103495	RCV001911031;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741564	40741564		-
NC_000022.11:g.40345563C>T	158	ADSL	Uncertain significance	1014469698	RCV001914936;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741567	40741567		-
NC_000022.11:g.40345566G>T	158	ADSL	Uncertain significance	2146607321	RCV001988502;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741570	40741570		-
NC_000022.11:g.40345568C>A	158	ADSL	Uncertain significance	1358901512	RCV002004322;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741572	40741572		-
NC_000022.11:g.40345571T>G	158	ADSL	Uncertain significance	-1	RCV002861391;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741575	40741575		-
NC_000022.11:g.40345573T>C	158	ADSL	Uncertain significance	-1	RCV002580505;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741577	40741577		-
NC_000022.11:g.40345587A>G	158	ADSL	Uncertain significance	9607708	RCV002027468;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741591	40741591		-
NC_000022.11:g.40345588A>G	158	ADSL	Benign	3044499	RCV001516263;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741592		-
NC_000022.11:g.40345588_40345589insAAAAG	158	ADSL	Benign	377707583	RCV001523319;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345596_40345597dup	158	ADSL	Benign	1555903152	RCV001512314;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345588_40345589insAAAAAAAGG	158	ADSL	Benign	377707583	RCV002215174;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345588_40345589insAG	158	ADSL	Benign	377707583	RCV002204990;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345588_40345589insAAAAAAAG	158	ADSL	Uncertain significance	-1	RCV002574782;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345588_40345589insAAAAAAAAGG	158	ADSL	Uncertain significance	-1	RCV002592811;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345588_40345589insAGG	158	ADSL	Uncertain significance	-1	RCV002781176;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345588_40345589insAAAAAAGG	158	ADSL	Uncertain significance	-1	RCV002776127;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345597dup	158	ADSL	Uncertain significance	-1	RCV002775831;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345588_40345589insAAG	158	ADSL	Uncertain significance	-1	RCV002786280;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593		-
NC_000022.11:g.40345589G>A	158	ADSL	Benign	549370926	RCV001523322;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741593	40741593		-
NC_000022.11:g.40345597del	158	ADSL	Benign	1555903152	RCV002117904;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741593	40741593		-
NC_000022.11:g.40345590G>T	158	ADSL	Uncertain significance	897965743	RCV001971139;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741594	40741594		-
NC_000022.11:g.40345590G>A	158	ADSL	Uncertain significance	897965743	RCV001886568;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741594	40741594		-
NC_000022.11:g.40345590G>C	158	ADSL	Likely benign	897965743	RCV002114644;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741594	40741594		-
NC_000022.11:g.40345591G>T	158	ADSL	Uncertain significance	-1	RCV002605678;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741595	40741595		-
NC_000022.11:g.40345592G>A	158	ADSL	Uncertain significance	950048889	RCV002023447;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741596	40741596		-
NC_000022.11:g.40345592G>C	158	ADSL	Uncertain significance	-1	RCV003038232;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741596	40741596		-
NC_000022.11:g.40345594G>C	158	ADSL	Uncertain significance	-1	RCV002621888;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741598	40741598		-
NC_000022.11:g.40345595G>T	158	ADSL	Uncertain significance	905746040	RCV001966498;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741599	40741599		-
NC_000022.11:g.40345596G>A	158	ADSL	Uncertain significance	-1	RCV002575411;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741600	40741600		-
NC_000022.11:g.40345597G>A	158	ADSL	Uncertain significance	1470349903	RCV002049097;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741601	40741601		-
NC_000022.11:g.40345597G>T	158	ADSL	Uncertain significance	1470349903	RCV001969399;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741601	40741601		-
NC_000022.11:g.40345598C>G	158	ADSL	Uncertain significance	941360483	RCV002030322;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741602	40741602		-
NC_000022.11:g.40345600A>G	158	ADSL	Uncertain significance	-1	RCV003033447;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741604	40741604		-
NC_000022.11:g.40345601C>G	158	ADSL	Uncertain significance	-1	RCV002760927;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741605	40741605		-
NC_000022.11:g.40345604G>A	158	ADSL	Uncertain significance	2146607753	RCV002004239;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741608	40741608		-
NC_000022.11:g.40345606G>A	158	ADSL	Uncertain significance	-1	RCV003040777;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741610	40741610		-
NC_000022.11:g.40345614_40345615del	158	ADSL	Benign	140158876	RCV001523323;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741617	40741618		-
NC_000022.11:g.40345621TTTA[2]	158	ADSL	Uncertain significance	2044109357	RCV002047241;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741623	40741626		-
NC_000022.11:g.40345624A>C	158	ADSL	Uncertain significance	1178062153	RCV002006207;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741628	40741628		-
NC_000022.11:g.40345631T>C	158	ADSL	Uncertain significance	2146607888	RCV001996201;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741635	40741635		-
NC_000022.11:g.40345635dup	158	ADSL	Uncertain significance	1206371108	RCV002013646;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741637	40741638		-
NC_000022.11:g.40345636_40345639del	158	ADSL	Uncertain significance	952409371	RCV002050710;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741638	40741641		-
NC_000022.11:g.40345634T>C	158	ADSL	Uncertain significance	897270801	RCV002016755;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741638	40741638		-
NC_000022.11:g.40345635T>C	158	ADSL	Uncertain significance	1380960379	RCV001949103;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741639	40741639		-
NC_000022.11:g.40345636_40345637del	158	ADSL	Uncertain significance	-1	RCV002807276;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741639	40741640		-
NC_000022.11:g.40345636C>T	158	ADSL	Benign	2006965	RCV001522299;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741640	40741640		-
NC_000022.11:g.40345639T>C	158	ADSL	Uncertain significance	528540026	RCV001894373;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741643	40741643		-
NC_000022.11:g.40345647dup	158	ADSL	Uncertain significance	113688962	RCV002042531;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741645	40741646		-
NC_000022.11:g.40345643T>C	158	ADSL	Uncertain significance	1018230570	RCV002019323;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741647	40741647		-
NC_000022.11:g.40345651G>A	158	ADSL	Uncertain significance	-1	RCV003054333;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741655	40741655		-
NC_000022.11:g.40345658T>A	158	ADSL	Uncertain significance	-1	RCV002842657;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741662	40741662		-
NC_000022.11:g.40345661C>T	158	ADSL	Uncertain significance	891295346	RCV002002658;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741665	40741665		-
NC_000022.11:g.40345663CT[1]	158	ADSL	Uncertain significance	-1	RCV002942991;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741667	40741668		-
NC_000022.11:g.40345669C>T	158	ADSL	Uncertain significance	1386791712	RCV001878450;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741673	40741673		-
NC_000022.11:g.40345670G>T	158	ADSL	Uncertain significance	-1	RCV002572104;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741674	40741674		-
NC_000022.11:g.40345676G>A	158	ADSL	Uncertain significance	1018543619	RCV001864202;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741680	40741680		-
NC_000022.11:g.40345676G>C	158	ADSL	Uncertain significance	-1	RCV002571152;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741680	40741680		-
NC_000022.11:g.40345683T>G	158	ADSL	Uncertain significance	2146608173	RCV001918146;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741687	40741687		-
NC_000022.11:g.40345686A>G	158	ADSL	Uncertain significance	866097692	RCV002017739;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741690	40741690		-
NC_000022.11:g.40345694G>A	158	ADSL	Uncertain significance	2146608187	RCV002014338;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741698	40741698		-
NC_000022.11:g.40345697C>T	158	ADSL	Uncertain significance	547176744	RCV001947449;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741701	40741701		-
NC_000022.11:g.40345699del	158	ADSL	Uncertain significance	2146608197	RCV001964450;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741702	40741702		-
NC_000022.11:g.40345705A>T	158	ADSL	Uncertain significance	968250682	RCV001913254;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741709	40741709		-
NC_000022.11:g.40345709C>A	158	ADSL	Uncertain significance	1170425980	RCV001979799;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741713	40741713		-
NC_000022.11:g.40345709C>G	158	ADSL	Uncertain significance	-1	RCV003031169;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741713	40741713		-
NC_000022.11:g.40345714_40345716dup	158	ADSL	Uncertain significance	-1	RCV003053865;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741715	40741716		-
NC_000022.11:g.40345716C>T	158	ADSL	Uncertain significance	978423465	RCV001975798;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741720	40741720		-
NC_000022.11:g.40345723C>A	158	ADSL	Uncertain significance	-1	RCV003002655;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741727	40741727		-
NC_000022.11:g.40345742T>A	158	ADSL	Uncertain significance	557264711	RCV001970795;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741746	40741746		-
NC_000022.11:g.40345764G>A	158	ADSL	Uncertain significance	2044113487	RCV002023854;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741768	40741768		-
NC_000022.11:g.40345770A>G	158	ADSL	Uncertain significance	1410879144	RCV001894164;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741774	40741774		-
NC_000022.11:g.40345803dup	158	ADSL	Uncertain significance	1165283078	RCV002035137;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741801	40741802		-
NC_000022.11:g.40345805T>C	158	ADSL	Uncertain significance	2146608408	RCV001976238;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741809	40741809		-
NC_000022.11:g.40345817G>C	158	ADSL	Benign	9611320	RCV001512252;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741821	40741821		-
NC_000022.11:g.40345820del	158	ADSL	Uncertain significance	2146608473	RCV001870749;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741824	40741824		-
NC_000022.11:g.40345822G>A	158	ADSL	Uncertain significance	-1	RCV003032346;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741826	40741826		-
NC_000022.11:g.40345827C>T	158	ADSL	Uncertain significance	-1	RCV002621611;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741831	40741831		-
NC_000022.11:g.40345830G>C	158	ADSL	Uncertain significance	927256177	RCV001875498;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741834	40741834		-
NC_000022.11:g.40345847C>G	158	ADSL	Uncertain significance	-1	RCV002853477;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741851	40741851		-
NC_000022.11:g.40345855C>G	158	ADSL	Uncertain significance	1307229331	RCV002047653;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741859	40741859		-
NC_000022.11:g.40345856C>T	158	ADSL	Uncertain significance	-1	RCV002816578;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741860	40741860		-
NC_000022.11:g.40345860G>A	158	ADSL	Uncertain significance	-1	RCV002594809;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741864	40741864		-
NC_000022.11:g.40345873G>C	158	ADSL	Uncertain significance	146387429	RCV002011403;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741877	40741877		-
NC_000022.11:g.40345873G>A	158	ADSL	Uncertain significance	-1	RCV002631152;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741877	40741877		-
NC_000022.11:g.40345877G>A	158	ADSL	Uncertain significance	-1	RCV003059625;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741881	40741881		-
NC_000022.11:g.40345885C>G	158	ADSL	Uncertain significance	868152963	RCV001931141;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741889	40741889		-
NC_000022.11:g.40345887C>T	158	ADSL	Uncertain significance	897153956	RCV001373493;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741891	40741891		-
NC_000022.11:g.40345889C>T	158	ADSL	Benign	185968430	RCV002124697;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741893	40741893		-
NC_000022.11:g.40345898_40345911del	158	ADSL	Uncertain significance	-1	RCV002572872;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741901	40741914		-
NC_000022.11:g.40345905C>T	158	ADSL	Uncertain significance	1051195380	RCV002022998;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741909	40741909		-
NC_000022.11:g.40345910G>A	158	ADSL	Uncertain significance	-1	RCV003037470;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741914	40741914		-
NC_000022.11:g.40345917A>C	158	ADSL	Uncertain significance	-1	RCV002685530;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741921	40741921		-
NC_000022.11:g.40345919C>T	158	ADSL	Uncertain significance	1316024893	RCV002019368;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741923	40741923		-
NC_000022.11:g.40345924C>T	158	ADSL	Uncertain significance	-1	RCV002861291;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741928	40741928		-
NC_000022.11:g.40345926G>A	158	ADSL	Uncertain significance	-1	RCV003054981;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741930	40741930		-
NC_000022.11:g.40345927G>A	158	ADSL	Uncertain significance	1197880670	RCV002001120;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741931	40741931		-
NC_000022.11:g.40345930C>T	158	ADSL	Uncertain significance	-1	RCV002675947;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741934	40741934		-
NC_000022.11:g.40345931A>G	158	ADSL	Uncertain significance	2146609004	RCV001867461;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741935	40741935		-
NC_000022.11:g.40345933T>C	158	ADSL	Uncertain significance	1273326006	RCV001913349;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741937	40741937		-
NC_000022.11:g.40345934G>A	158	ADSL	Uncertain significance	1428135725	RCV001373666;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741938	40741938		-
NC_000022.11:g.40345952G>T	158	ADSL	Uncertain significance	2044120214	RCV002019479;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741956	40741956		-
NC_000022.11:g.40345954T>C	158	ADSL	Uncertain significance	-1	RCV002622927;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741958	40741958		-
NC_000022.11:g.40345958C>T	158	ADSL	Uncertain significance	558615182	RCV002049971;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741962	40741962		-
NC_000022.11:g.40345968C>G	158	ADSL	Uncertain significance	742139	RCV001874608;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741972	40741972		-
NC_000022.11:g.40345969_40345970del	158	ADSL	Uncertain significance	2146609166	RCV001994451;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741973	40741974		-
NC_000022.11:g.40345971C>T	158	ADSL	Uncertain significance	1040260159	RCV001958142;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741975	40741975		-
NC_000022.11:g.40345972A>G	158	ADSL	Uncertain significance	898010972	RCV001925013;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741976	40741976		-
NC_000022.11:g.40345978C>G	158	ADSL	Uncertain significance	-1	RCV003041540;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741982	40741982		-
NC_000022.11:g.40345982A>C	158	ADSL	Uncertain significance	-1	RCV003041775;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741986	40741986		-
NC_000022.11:g.40345987C>A	158	ADSL	Uncertain significance	-1	RCV003025687;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741991	40741991		-
NC_000022.11:g.40345988G>C	158	ADSL	Benign	576999610	RCV002087883;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741992	40741992		-
NC_000022.11:g.40345993C>T	158	ADSL	Uncertain significance	2146609240	RCV002050292;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741997	40741997		-
NC_000022.11:g.40345994G>C	158	ADSL	Uncertain significance	1032678851	RCV001866379;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741998	40741998		-
NC_000022.11:g.40345994G>A	158	ADSL	Uncertain significance	-1	RCV003014276;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741998	40741998		-
NC_000022.11:g.40345997G>A	158	ADSL	Uncertain significance	376903282	RCV002014349;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742001	40742001		-
NC_000022.11:g.40345999G>C	158	ADSL	Uncertain significance	2146609261	RCV002017383;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742003	40742003		-
NC_000022.11:g.40346004G>A	158	ADSL	Uncertain significance	1010283787	RCV001957502;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742008	40742008		-
NC_000022.11:g.40346011A>G	158	ADSL	Uncertain significance	-1	RCV003035465;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742015	40742015		-
NC_000022.11:g.40346016G>A	158	ADSL	Uncertain significance	1421868511	RCV001920279;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742020	40742020		-
NC_000022.11:g.40346019G>A	158	ADSL	Uncertain significance	1024075575	RCV002035990;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742023	40742023		-
NC_000022.11:g.40346019G>T	158	ADSL	Uncertain significance	-1	RCV002716153;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742023	40742023		-
NC_000022.11:g.40346022C>A	158	ADSL	Uncertain significance	1465603644	RCV002051028;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742026	40742026		-
NC_000022.11:g.40346027G>A	158	ADSL	Uncertain significance	-1	RCV002806060;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742031	40742031		-
NC_000022.11:g.40346032_40346033del	158	ADSL	Uncertain significance	1359178555	RCV001983791;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742036	40742037		-
NC_000022.11:g.40346037dup	158	ADSL	Uncertain significance	-1	RCV002571999;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742040	40742041		-
NC_000022.11:g.40346039dup	158	ADSL	Uncertain significance	1396866470	RCV002001696;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742041	40742042		-
NC_000022.11:g.40346049T>C	158	ADSL	Uncertain significance	562792922	RCV001899822;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742053	40742053		-
NC_000022.11:g.40346052A>C	158	ADSL	Uncertain significance	-1	RCV002914410;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742056	40742056		-
NC_000022.11:g.40346058C>A	158	ADSL	Uncertain significance	79742008	RCV001873980;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742062	40742062		-
NC_000022.11:g.40346058C>T	158	ADSL	Benign	79742008	RCV002194677;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742062	40742062		-
NC_000022.11:g.40346060T>C	158	ADSL	Uncertain significance	998527385	RCV001352625;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742064	40742064		-
NC_000022.11:g.40346063C>T	158	ADSL	Uncertain significance	927109163	RCV001943065;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742067	40742067		-
NC_000022.11:g.40346065_40346067del	158	ADSL	Uncertain significance	2146609595	RCV002013105;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742069	40742071		-
NC_000022.11:g.40346083C>G	158	ADSL	Uncertain significance	-1	RCV002846264;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742087	40742087		-
NC_000022.11:g.40346089C>T	158	ADSL	Uncertain significance	2146609641	RCV001954074;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742093	40742093		-
NC_000022.11:g.40346104C>G	158	ADSL	Uncertain significance	1293829192	RCV001905632;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742108	40742108		-
NC_000022.11:g.40346116C>A	158	ADSL	Uncertain significance	77895579	RCV001971806;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742120	40742120		-
NC_000022.11:g.40346117_40346120del	158	ADSL	Uncertain significance	-1	RCV002572464;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742121	40742124		-
NC_000022.11:g.40346117_40346119del	158	ADSL	Uncertain significance	-1	RCV002786404;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742121	40742123		-
NC_000022.11:g.40346117C>T	158	ADSL	Uncertain significance	-1	RCV003038000;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742121	40742121		-
NC_000022.11:g.40346135T>G	158	ADSL	Uncertain significance	-1	RCV003077289;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742139	40742139		-
NC_000022.11:g.40346141T>A	158	ADSL	Uncertain significance	1261528478	RCV001954637;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742145	40742145		-
NC_000022.11:g.40346143T>C	158	ADSL	Uncertain significance	978591450	RCV001984702;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742147	40742147		-
NC_000022.11:g.40346147T>C	158	ADSL	Uncertain significance	-1	RCV002658631;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742151	40742151		-
NC_000022.11:g.40346158C>T	158	ADSL	Uncertain significance	2146610168	RCV001979427;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742162	40742162		-
NC_000022.11:g.40346158del	158	ADSL	Uncertain significance	528311466	RCV001985180;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742162	40742162		-
NC_000022.11:g.40346161G>C	158	ADSL	Uncertain significance	-1	RCV002943706;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742165	40742165		-
NC_000022.11:g.40346165G>T	158	ADSL	Uncertain significance	909204	RCV002008120;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742169	40742169		-
NC_000022.11:g.40346167C>T	158	ADSL	Likely benign	561082270	RCV002182427;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742171	40742171		-
NC_000022.11:g.40346180C>G	158	ADSL	Uncertain significance	-1	RCV002577205;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742184	40742184		-
NC_000022.11:g.40346188G>C	158	ADSL	Uncertain significance	1399154446	RCV001894131;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742192	40742192		-
NC_000022.11:g.40346189T>G	158	ADSL	Uncertain significance	2146610277	RCV001908478;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742193	40742193		-
NC_000022.11:g.40346200C>T	158	ADSL	Uncertain significance	-1	RCV003027996;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742204	40742204		-
NC_000022.11:g.40346222C>T	158	ADSL	Uncertain significance	-1	RCV003106833;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742226	40742226		-
NC_000022.11:g.40346228C>G	158	ADSL	Uncertain significance	1426828844	RCV001971678;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742232	40742232		-
NC_000022.11:g.40346230C>G	158	ADSL	Uncertain significance	2044131436	RCV001983328;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742234	40742234		-
NC_000022.11:g.40346236G>A	158	ADSL	Uncertain significance	-1	RCV002866331;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742240	40742240		-
NC_000022.11:g.40346240T>C	158	ADSL	Uncertain significance	752718206	RCV001959424;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742244	40742244		-
NC_000022.11:g.40346243G>A	158	ADSL	Uncertain significance	-1	RCV003073671;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742247	40742247		-
NC_000022.11:g.40346245T>C	158	ADSL	Uncertain significance	-1	RCV002603342;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742249	40742249		-
NC_000022.11:g.40346247A>G	158	ADSL	Uncertain significance	1283422769	RCV001910393;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742251	40742251		-
NC_000022.11:g.40346253G>A	158	ADSL	Likely benign	912673794	RCV002074669;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742257	40742257		-
NC_000022.11:g.40346269G>A	158	ADSL	Uncertain significance	1258655937	RCV001955209;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742273	40742273		-
NC_000022.11:g.40346275G>A	158	ADSL	Uncertain significance	-1	RCV002913488;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742279	40742279		-
NC_000022.11:g.40346276G>A	158	ADSL	Uncertain significance	540176537	RCV001915551;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742280	40742280		-
NC_000022.11:g.40346280T>A	158	ADSL	Uncertain significance	1301796620	RCV002027383;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742284	40742284		-
NC_000022.11:g.40346283_40346292del	158	ADSL	Uncertain significance	-1	RCV003104767;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742285	40742294		-
NC_000022.11:g.40346287G>A	158	ADSL	Uncertain significance	-1	RCV002908618;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742291	40742291		-
NC_000022.11:g.40346289A>G	158	ADSL	Uncertain significance	1601541349	RCV001910234;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742293	40742293		-
NC_000022.11:g.40346304G>A	158	ADSL	Uncertain significance	-1	RCV003055051;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742308	40742308		-
NC_000022.11:g.40346305G>A	158	ADSL	Uncertain significance	1039907516	RCV001927523;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742309	40742309		-
NC_000022.11:g.40346313A>C	158	ADSL	Uncertain significance	2146610598	RCV001990611;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742317	40742317		-
NC_000022.11:g.40346323C>A	158	ADSL	Uncertain significance	756420450	RCV001918883;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742327	40742327		-
NC_000022.11:g.40346324G>A	158	ADSL	Uncertain significance	1000950960	RCV001903330;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742328	40742328		-
NC_000022.11:g.40346329A>C	158	ADSL	Uncertain significance	2146610651	RCV001928900;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742333	40742333		-
NC_000022.11:g.40346339G>A	158	ADSL	Uncertain significance	2146610710	RCV001867577;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742343	40742343		-
NC_000022.11:g.40346350C>T	158	ADSL	Uncertain significance	-1	RCV002619427;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742354	40742354		-
NC_000022.11:g.40346353G>A	158	ADSL	Uncertain significance	1273594576	RCV002005113;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742357	40742357		-
NC_000022.11:g.40346357C>A	158	ADSL	Uncertain significance	2146610771	RCV002037107;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742361	40742361		-
NC_000022.11:g.40346358T>C	158	ADSL	Uncertain significance	2146610772	RCV001894169;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742362	40742362		-
NC_000022.11:g.40346360G>A	158	ADSL	Uncertain significance	1379918231	RCV001919554;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742364	40742364		-
NC_000022.11:g.40346371G>C	158	ADSL	Uncertain significance	777987980	RCV001992719;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742375	40742375		-
NC_000022.11:g.40346371G>T	158	ADSL	Uncertain significance	777987980	RCV002005948;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742375	40742375		-
NC_000022.11:g.40346374C>G	158	ADSL	Uncertain significance	1024378498	RCV002011504;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742378	40742378		-
NC_000022.11:g.40346377A>C	158	ADSL	Uncertain significance	749450413	RCV001953233;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742381	40742381		-
NC_000022.11:g.40346377A>T	158	ADSL	Uncertain significance	749450413	RCV002019828;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742381	40742381		-
NC_000022.11:g.40346381A>C	158	ADSL	Uncertain significance	771316335	RCV001886299;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742385	40742385		-
NC_000022.11:g.40346385C>A	158	ADSL	Uncertain significance	-1	RCV003039816;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742389	40742389		-
NC_000022.11:g.40346386T>A	158	ADSL	Uncertain significance	1469357773	RCV001949043;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742390	40742390		-
NC_000022.11:g.40346389G>A	158	ADSL	Uncertain significance	-1	RCV002633468;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742393	40742393		-
NC_000022.11:g.40346390G>A	158	ADSL	Uncertain significance	-1	RCV002795426;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742394	40742394		-
NC_000022.11:g.40346398A>G	158	ADSL	Uncertain significance	-1	RCV003084768;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742402	40742402		-
NC_000022.11:g.40346400C>A	158	ADSL	Uncertain significance	376911964	RCV001923961;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742404	40742404		-
NC_000022.11:g.40346401G>T	158	ADSL	Uncertain significance	1001687278	RCV002024310;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742405	40742405		-
NC_000022.11:g.40346402G>C	158	ADSL	Uncertain significance	181976442	RCV001953140;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742406	40742406		-
NC_000022.11:g.40346402G>A	158	ADSL	Uncertain significance	181976442	RCV001943686;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742406	40742406		-
NC_000022.11:g.40346406T>C	158	ADSL	Uncertain significance	-1	RCV002632845;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742410	40742410		-
NC_000022.11:g.40346408C>A	158	ADSL	Uncertain significance	962543409	RCV001923948;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742412	40742412		-
NC_000022.11:g.40346409T>C	158	ADSL	Uncertain significance	2146611034	RCV001876371;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742413	40742413		-
NC_000022.11:g.40346412G>C	158	ADSL	Uncertain significance	973872264	RCV001955323;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742416	40742416		-
NM_000026.2(ADSL):c.-146C>T	158	ADSL	Benign	909669	RCV000829785\|RCV001517151;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742417	40742417	22:g.40742417C>T	-
NC_000022.11:g.40346417C>T	158	ADSL	Uncertain significance	951357741	RCV001920729;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742421	40742421		-
NC_000022.11:g.40346418G>C	158	ADSL	Uncertain significance	986851841	RCV001939722;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742422	40742422		-
NC_000022.11:g.40346418G>T	158	ADSL	Uncertain significance	-1	RCV002890124;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742422	40742422		-
NC_000022.11:g.40346420C>T	158	ADSL	Uncertain significance	-1	RCV002651331;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742424	40742424		-
NC_000022.11:g.40346422G>C	158	ADSL	Uncertain significance	2146611167	RCV001974105;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742426	40742426		-
NC_000022.11:g.40346424G>A	158	ADSL	Uncertain significance	186550906	RCV002020243;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742428	40742428		-
NC_000022.11:g.40346424G>T	158	ADSL	Uncertain significance	-1	RCV003071611;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742428	40742428		-
NC_000022.11:g.40346427C>G	158	ADSL	Uncertain significance	2044138563	RCV001969717;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742431	40742431		-
NC_000022.11:g.40346432C>A	158	ADSL	Uncertain significance	190560535	RCV002043713;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742436	40742436		-
NC_000022.11:g.40346432C>G	158	ADSL	Uncertain significance	190560535	RCV001900239;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742436	40742436		-
NC_000022.11:g.40346432C>T	158	ADSL	Likely benign	190560535	RCV002105032;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742436	40742436		-
NC_000022.11:g.40346433G>A	158	ADSL	Uncertain significance	1284184707	RCV001902221;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742437	40742437		-
NC_000022.11:g.40346434C>T	158	ADSL	Uncertain significance	-1	RCV002938458;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742438	40742438		-
NC_000022.11:g.40346436C>T	158	ADSL	Uncertain significance	-1	RCV003057464;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742440	40742440		-
NC_000022.11:g.40346438G>C	158	ADSL	Uncertain significance	1286138763	RCV002028864;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742442	40742442		-
NC_000022.11:g.40346443C>G	158	ADSL	Uncertain significance	1325872618	RCV001922773;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742447	40742447		-
NC_000022.11:g.40346449G>C	158	ADSL	Uncertain significance	554145337	RCV002051327;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742453	40742453		-
NC_000022.11:g.40346453G>C	158	ADSL	Uncertain significance	-1	RCV003089392;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742457	40742457		-
NC_000022.11:g.40346456C>G	158	ADSL	Uncertain significance	533768359	RCV001955426;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742460	40742460		-
NC_000022.11:g.40346456C>A	158	ADSL	Uncertain significance	533768359	RCV001938068;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742460	40742460		-
NC_000022.11:g.40346457G>A	158	ADSL	Uncertain significance	-1	RCV002875545;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742461	40742461		-
NC_000022.11:g.40346465G>A	158	ADSL	Uncertain significance	-1	RCV003032421;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742469	40742469		-
NC_000022.11:g.40346474CCCCG[3]	158	ADSL	Benign	1237603952	RCV002114507;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742473	40742474		-
NC_000022.11:g.40346472C>T	158	ADSL	Uncertain significance	-1	RCV002654890;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742476	40742476		-
NC_000022.11:g.40346477_40346491dup	158	ADSL	Uncertain significance	-1	RCV002928001;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742476	40742477		-
NC_000022.11:g.40346473G>C	158	ADSL	Uncertain significance	-1	RCV002942990;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742477	40742477		-
NC_000022.11:g.40346474C>A	158	ADSL	Uncertain significance	2146611525	RCV001932915;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742478	40742478		-
NC_000022.11:g.40346482_40346491dup	158	ADSL	Uncertain significance	2146611569	RCV001933546;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742481	40742482		-
NC_000022.11:g.40346478G>C	158	ADSL	Uncertain significance	936856129	RCV001879033;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742482	40742482		-
NC_000022.11:g.40346482C>T	158	ADSL	Uncertain significance	-1	RCV003060403;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742486	40742486		-
NC_000022.11:g.40346484_40346493del	158	ADSL	Uncertain significance	2146611602	RCV001897792;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742487	40742496		-
NC_000022.11:g.40346483G>A	158	ADSL	Uncertain significance	892749175	RCV001963612;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742487	40742487		-
NC_000022.11:g.40346488G>A	158	ADSL	Uncertain significance	2146611643	RCV002042069;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742492	40742492		-
NC_000022.11:g.40346489C>G	158	ADSL	Uncertain significance	949660803	RCV001972934;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742493	40742493		-
NC_000022.11:g.40346489C>T	158	ADSL	Uncertain significance	949660803	RCV001863574;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742493	40742493		-
NC_000022.11:g.40346491del	158	ADSL	Uncertain significance	-1	RCV002736308;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742493	40742493		-
NC_000022.11:g.40346492T>G	158	ADSL	Uncertain significance	-1	RCV002653053;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742496	40742496		-
NC_000022.11:g.40346493G>A	158	ADSL	Uncertain significance	558397990	RCV001892467;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742497	40742497		-
NM_000026.2(ADSL):c.-64C>A	158	ADSL	Uncertain significance	576843830	RCV001146692;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742499	40742499	22:g.40742499C>A	-
NM_000026.4(ADSL):c.-56T>A	158	ADSL	Uncertain significance	1338979561	RCV001913565;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742507	40742507	40742507	-
NM_000026.4(ADSL):c.-51G>A	158	ADSL	Uncertain significance	-1	RCV003012144;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742512	40742512	NC_000022.10:g.40742512G>A	-
NC_000022.10:g.(?_40742514)_(40762546_?)dup	158	ADSL	Uncertain significance	-1	RCV000536272;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742514	40762546		-	C0268126 103050 Adenylosuccinate lyase deficiency;
NC_000022.11:g.(?_40346510)_(40353137_?)dup	158	ADSL	Uncertain significance	-1	RCV001031566;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742514	40749141	-1	-
NM_000026.4(ADSL):c.-44C>G	158	ADSL	Uncertain significance	763900902	RCV001911814;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742519	40742519	40742519	-
NM_000026.4(ADSL):c.-37C>G	158	ADSL	Conflicting interpretations of pathogenicity	372357778	RCV000425428\|RCV001861602;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742526	40742526	22:g.40742526C>G	ClinGen:CA10247561	CN169374 not specified;
NM_000026.4(ADSL):c.-37C>T	158	ADSL	Uncertain significance	-1	RCV003070495;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742526	40742526	NC_000022.10:g.40742526C>T	-
NM_000026.4(ADSL):c.-35G>T	158	ADSL	Uncertain significance	750649096	RCV000277016;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742528	40742528	NC_000022.10:g.40742528G>T	ClinGen:CA10247562	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.-35G>C	158	ADSL	Uncertain significance	750649096	RCV001911041;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742528	40742528	40742528	-
NM_000026.4(ADSL):c.-32C>T	158	ADSL	Uncertain significance	1420977984	RCV002017170;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742531	40742531	40742531	-
NM_000026.4(ADSL):c.-31C>T	158	ADSL	Uncertain significance	747293932	RCV001986150;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742532	40742532	40742532	-
NM_000026.4(ADSL):c.-29G>C	158	ADSL	Uncertain significance	2044143205	RCV001146693;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742534	40742534	22:g.40742534G>C	-
NM_000026.4(ADSL):c.-27C>A	158	ADSL	Uncertain significance	1294310669	RCV001911033;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742536	40742536	40742536	-
NM_000026.4(ADSL):c.-23C>T	158	ADSL	Benign	201625622	RCV002178175;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742540	40742540	40742540	-
NM_000026.4(ADSL):c.-21T>A	158	ADSL	Uncertain significance	-1	RCV002746484;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742542	40742542	NC_000022.10:g.40742542T>A	-
NM_000026.4(ADSL):c.-20G>T	158	ADSL	Uncertain significance	1601542242	RCV001947971;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742543	40742543	40742543	-
NM_000026.4(ADSL):c.-18C>A	158	ADSL	Uncertain significance	745531733	RCV001981766;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742545	40742545	40742545	-
NM_000026.4(ADSL):c.-15G>A	158	ADSL	Uncertain significance	-1	RCV002931944;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742548	40742548	NC_000022.10:g.40742548G>A	-
NM_000026.4(ADSL):c.-12C>T	158	ADSL	Uncertain significance	775388314	RCV001323269;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742551	40742551	40742551	-
NM_000026.4(ADSL):c.-11G>T	158	ADSL	Uncertain significance	200713871	RCV002021896;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742552	40742552	40742552	-
NM_000026.4(ADSL):c.-10C>G	158	ADSL	Uncertain significance	-1	RCV002736719;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742553	40742553	NC_000022.10:g.40742553C>G	-
NM_000026.4(ADSL):c.5C>T (p.Ala2Val)	158	ADSL	Conflicting interpretations of pathogenicity	143083947	RCV000186704\|RCV001363283;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742567	40742567	NC_000022.10:g.40742567C>T	ClinGen:CA313131,UniProtKB:P30566#VAR_016930
NM_000026.4(ADSL):c.7G>A (p.Ala3Thr)	158	ADSL	Uncertain significance	1389806424	RCV001920953;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742569	40742569	40742569	-
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly)	158	ADSL	Uncertain significance	2044145822	RCV001060867;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742570	40742570	22:g.40742570C>G	-
NM_000026.4(ADSL):c.9T>C (p.Ala3=)	158	ADSL	Likely benign	758676257	RCV000605501\|RCV001448851;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742571	40742571	22:g.40742571T>C	ClinGen:CA10247577	CN169374 not specified;
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg)	158	ADSL	Uncertain significance	2146612211	RCV002045005;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742572	40742572	40742572	-
NM_000026.4(ADSL):c.11G>T (p.Gly4Val)	158	ADSL	Uncertain significance	766546584	RCV000728371\|RCV001363640;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742573	40742573	NC_000022.10:g.40742573G>T	-
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)	158	ADSL	Uncertain significance	766546584	RCV002038035;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742573	40742573	40742573	-
NM_000026.4(ADSL):c.15C>T (p.Gly5=)	158	ADSL	Likely benign	751781160	RCV001046467;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742577	40742577	22:g.40742577C>T	-
NM_000026.4(ADSL):c.15C>A (p.Gly5=)	158	ADSL	Likely benign	751781160	RCV002075513;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742577	40742577	40742577	-
NM_000026.4(ADSL):c.16G>C (p.Asp6His)	158	ADSL	Uncertain significance	140064577	RCV000327088\|RCV000551429\|RCV002518830;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MeSH:D030342,MedGen:C0950123	22	40742578	40742578	22:g.40742578G>C	ClinGen:CA10247581	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.17A>T (p.Asp6Val)	158	ADSL	Uncertain significance	1314470860	RCV001338365;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742579	40742579	40742579	-
NM_000026.4(ADSL):c.19C>G (p.His7Asp)	158	ADSL	Uncertain significance	778590882	RCV001898042;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742581	40742581	40742581	-
NM_000026.4(ADSL):c.20A>G (p.His7Arg)	158	ADSL	Uncertain significance	377248090	RCV000436772\|RCV001202411;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742582	40742582	NC_000022.10:g.40742582A>G	ClinGen:CA10247585
NM_000026.4(ADSL):c.27G>T (p.Ser9=)	158	ADSL	Benign/Likely benign	146873132	RCV000123549\|RCV000868944;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742589	40742589	22:g.40742589G>T	ClinGen:CA289318	CN169374 not specified;
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala)	158	ADSL	Uncertain significance	768340455	RCV002006925;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742590	40742590	40742590	-
NM_000026.4(ADSL):c.31G>C (p.Asp11His)	158	ADSL	Uncertain significance	761759515	RCV002022422;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742593	40742593	40742593	-
NM_000026.4(ADSL):c.32A>T (p.Asp11Val)	158	ADSL	Uncertain significance	368501116	RCV000439143\|RCV001044398;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742594	40742594	NC_000022.10:g.40742594A>T	ClinGen:CA10247591
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg)	158	ADSL	Uncertain significance	773098808	RCV000697335;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742598	40742598	NC_000022.10:g.40742598C>A	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys)	158	ADSL	Uncertain significance	766465184	RCV000727459\|RCV001228393;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742602	40742602	NC_000022.10:g.40742602C>T	ClinGen:CA313132
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu)	158	ADSL	Uncertain significance	371824098	RCV000812500;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742603	40742603	22:g.40742603G>T	-
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser)	158	ADSL	Uncertain significance	753065207	RCV001365148;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742608	40742608	40742608	-
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu)	158	ADSL	Uncertain significance	541051390	RCV001317495;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742609	40742609	40742609	-
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe)	158	ADSL	Uncertain significance	1262658484	RCV001238846;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742611	40742611	22:g.40742611C>T	-
NM_000026.4(ADSL):c.51T>A (p.Leu17=)	158	ADSL	Uncertain significance	2146612540	RCV001912736;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742613	40742613	40742613	-
NM_000026.4(ADSL):c.56C>T (p.Ser19Phe)	158	ADSL	Uncertain significance	-1	RCV002717140;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742618	40742618	NC_000022.10:g.40742618C>T	-
NM_000026.4(ADSL):c.62A>G (p.Tyr21Cys)	158	ADSL	Uncertain significance	-1	RCV002735822;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742624	40742624	NC_000022.10:g.40742624A>G	-
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)	158	ADSL	Conflicting interpretations of pathogenicity	1257907226	RCV000634534\|RCV002529825;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MeSH:D030342,MedGen:C0950123	22	40742633	40742633	NC_000022.10:g.40742633C>T	ClinGen:CA411632693	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.72G>A (p.Pro24=)	158	ADSL	Likely benign	1279175740	RCV001441240;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742634	40742634	NC_000022.10:g.40742634G>A	ClinGen:CA514611941	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.97A>C (p.Arg33=)	158	ADSL	Uncertain significance	-1	RCV002825133;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742659	40742659		-
NM_000026.4(ADSL):c.100T>C (p.Tyr34His)	158	ADSL	Uncertain significance	1434292876	RCV001325958;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742662	40742662	40742662	-
NM_000026.4(ADSL):c.101A>G (p.Tyr34Cys)	158	ADSL	Uncertain significance	780994144	RCV000431927\|RCV002521608;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742663	40742663	NC_000022.10:g.40742663A>G	ClinGen:CA10247605
NM_000026.4(ADSL):c.114A>G (p.Thr38=)	158	ADSL	Likely benign	377588571	RCV000440282\|RCV001505307;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742676	40742676	22:g.40742676A>G	ClinGen:CA10247607	CN169374 not specified;
NM_000026.4(ADSL):c.124C>T (p.Leu42=)	158	ADSL	Benign	2228415	RCV000116237\|RCV000226786\|RCV003430666;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40742686	40742686	22:g.40742686C>T	ClinGen:CA288666	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys)	158	ADSL	Uncertain significance	770916318	RCV002034225;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742691	40742691	40742691	-
NM_000026.4(ADSL):c.136C>T (p.Leu46=)	158	ADSL	Likely benign	-1	RCV002866524;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742698	40742698		-
NM_000026.4(ADSL):c.140C>T (p.Ala47Val)	158	ADSL	Uncertain significance	759704594	RCV001225588;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742702	40742702	22:g.40742702C>T	-
NM_000026.4(ADSL):c.142G>A (p.Glu48Lys)	158	ADSL	Uncertain significance	-1	RCV002833608;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742704	40742704	NC_000022.10:g.40742704G>A	-
NM_000026.4(ADSL):c.146C>T (p.Ala49Val)	158	ADSL	Uncertain significance	752938873	RCV001917527;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742708	40742708	40742708	-
NM_000026.4(ADSL):c.153G>A (p.Gln51=)	158	ADSL	Uncertain significance	1214023402	RCV001223265;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742715	40742715	22:g.40742715G>A	-
NM_000026.4(ADSL):c.153+1G>T	158	ADSL	Conflicting interpretations of pathogenicity	1555903969	RCV000523755\|RCV000610929\|RCV002525131;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742716	40742716	NC_000022.10:g.40742716G>T	ClinGen:CA411632938
NM_000026.4(ADSL):c.153+7G>A	158	ADSL	Likely benign	376477242	RCV000443684\|RCV002060063;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742722	40742722	22:g.40742722G>A	ClinGen:CA10247618	CN169374 not specified;
NM_000026.4(ADSL):c.153+7G>C	158	ADSL	Likely benign	-1	RCV002979122;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742722	40742722	NC_000022.10:g.40742722G>C	-
NM_000026.4(ADSL):c.153+10C>A	158	ADSL	Likely benign	751038604	RCV002135010;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742725	40742725	40742725	-
NM_000026.4(ADSL):c.153+12C>T	158	ADSL	Likely benign	780869214	RCV002149725;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742727	40742727	40742727	-
NM_000026.4(ADSL):c.153+16C>G	158	ADSL	Likely benign	-1	RCV002647762;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742731	40742731	NC_000022.10:g.40742731C>G	-
NM_000026.4(ADSL):c.153+17T>C	158	ADSL	Likely benign	369553804	RCV002108168;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742732	40742732	40742732	-
NM_000026.4(ADSL):c.153+18G>A	158	ADSL	Likely benign	-1	RCV002829935;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742733	40742733	NC_000022.10:g.40742733G>A	-
NM_000026.4(ADSL):c.153+19A>G	158	ADSL	Likely benign	2146613300	RCV002111830;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742734	40742734	40742734	-
NM_000026.4(ADSL):c.154-9A>G	158	ADSL	Likely benign	762257005	RCV000879521;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745827	40745827	22:g.40745827A>G	-
NM_000026.4(ADSL):c.154-7del	158	ADSL	Likely benign	1452778583	RCV000534398;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745828	40745828	NC_000022.10:g.40745829del	ClinGen:CA658658923	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.155C>A (p.Thr52Lys)	158	ADSL	Uncertain significance	1380095056	RCV000692090;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745837	40745837	22:g.40745837C>A	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp)	158	ADSL	Uncertain significance	765813625	RCV001061282\|RCV002284461;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40745843	40745843	22:g.40745843G>A	-
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg)	158	ADSL	Uncertain significance	544172142	RCV001968996;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745855	40745855	40745855	-
NM_000026.4(ADSL):c.175G>A (p.Asp59Asn)	158	ADSL	Uncertain significance	-1	RCV003048410;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745857	40745857	NC_000022.10:g.40745857G>A	-
NM_000026.4(ADSL):c.183A>C (p.Gln61His)	158	ADSL	Conflicting interpretations of pathogenicity	1601551862	RCV000798632\|RCV003325520;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40745865	40745865	22:g.40745865A>C	-
NM_000026.4(ADSL):c.197A>T (p.Lys66Ile)	158	ADSL	Uncertain significance	796052251	RCV000186700\|RCV002513974;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745879	40745879	NC_000022.10:g.40745879A>T	ClinGen:CA313127
NM_000026.4(ADSL):c.197A>C (p.Lys66Thr)	158	ADSL	Uncertain significance	-1	RCV002296318;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745879	40745879	40745879	-
NM_000026.4(ADSL):c.205C>G (p.Leu69Val)	158	ADSL	Uncertain significance	200169254	RCV000804581;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745887	40745887	22:g.40745887C>G	-
NM_000026.4(ADSL):c.216C>T (p.Ile72=)	158	ADSL	Benign	145786986	RCV000175509\|RCV000229565;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745898	40745898	22:g.40745898C>T	ClinGen:CA302794	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.216C>G (p.Ile72Met)	158	ADSL	Uncertain significance	145786986	RCV001870821;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745898	40745898	40745898	-
NM_000026.4(ADSL):c.217G>A (p.Asp73Asn)	158	ADSL	Uncertain significance	745787396	RCV000997933\|RCV002549987;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745899	40745899	22:g.40745899G>A	-
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg)	158	ADSL	Uncertain significance	772345709	RCV001997416;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745906	40745906	40745906	-
NM_000026.4(ADSL):c.226A>C (p.Met76Leu)	158	ADSL	Uncertain significance	145306334	RCV001318656;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745908	40745908	40745908	-
NM_000026.4(ADSL):c.227T>C (p.Met76Thr)	158	ADSL	Uncertain significance	-1	RCV003035789;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745909	40745909	NC_000022.10:g.40745909T>C	-
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln)	158	ADSL	Uncertain significance	768958353	RCV002003989;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745926	40745926	40745926	-
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg)	158	ADSL	Uncertain significance	776685935	RCV001892871;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745927	40745927	40745927	-
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)	158	ADSL	Conflicting interpretations of pathogenicity	780425464	RCV000527728\|RCV000723817;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40745929	40745929	NC_000022.10:g.40745929C>T	ClinGen:CA241261
NM_000026.4(ADSL):c.248G>A (p.Arg83His)	158	ADSL	Uncertain significance	-1	RCV002637094;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745930	40745930	NC_000022.10:g.40745930G>A	-
NM_000026.4(ADSL):c.254G>A (p.Arg85Gln)	158	ADSL	Uncertain significance	540648461	RCV002260774\|RCV003101442;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745936	40745936	40745936	-
NM_000026.4(ADSL):c.255A>G (p.Arg85=)	158	ADSL	Likely benign	747492297	RCV002142201;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745937	40745937	40745937	-
NM_000026.4(ADSL):c.257A>G (p.His86Arg)	158	ADSL	Uncertain significance	2044280567	RCV001224951;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745939	40745939	22:g.40745939A>G	-
NM_000026.4(ADSL):c.258T>G (p.His86Gln)	158	ADSL	Uncertain significance	1327764464	RCV001312757;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745940	40745940	40745940	-
NM_000026.4(ADSL):c.262G>T (p.Val88Leu)	158	ADSL	Uncertain significance	1329100297	RCV001367571;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745944	40745944	40745944	-
NM_000026.4(ADSL):c.263T>C (p.Val88Ala)	158	ADSL	Uncertain significance	149165656	RCV000186702\|RCV001207291;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745945	40745945	NC_000022.10:g.40745945T>C	ClinGen:CA313129
NM_000026.4(ADSL):c.270T>C (p.Ala90=)	158	ADSL	Conflicting interpretations of pathogenicity	143275316	RCV000253583\|RCV000731094\|RCV001088635;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745952	40745952	22:g.40745952T>C	ClinGen:CA10247657	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.271C>T (p.His91Tyr)	158	ADSL	Uncertain significance	755518176	RCV000419456\|RCV000764386;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745953	40745953	NC_000022.10:g.40745953C>T	ClinGen:CA10247658
NM_000026.4(ADSL):c.271C>G (p.His91Asp)	158	ADSL	Uncertain significance	755518176	RCV001244507;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745953	40745953	22:g.40745953C>G	-
NM_000026.4(ADSL):c.273C>T (p.His91=)	158	ADSL	Likely benign	148303726	RCV000862323;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745955	40745955	22:g.40745955C>T	-
NM_000026.4(ADSL):c.274G>T (p.Val92Leu)	158	ADSL	Uncertain significance	763852823	RCV001976019;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745956	40745956	40745956	-
NM_000026.4(ADSL):c.274G>A (p.Val92Met)	158	ADSL	Uncertain significance	763852823	RCV001884986;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745956	40745956	40745956	-
NM_000026.4(ADSL):c.278A>G (p.His93Arg)	158	ADSL	Uncertain significance	-1	RCV002834067;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745960	40745960	NC_000022.10:g.40745960A>G	-
NM_000026.4(ADSL):c.304G>T (p.Ala102Ser)	158	ADSL	Uncertain significance	-1	RCV002819527;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745986	40745986	NC_000022.10:g.40745986G>T	-
NM_000026.4(ADSL):c.319C>T (p.His107Tyr)	158	ADSL	Uncertain significance	2146623366	RCV001373726;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746001	40746001	40746001	-
NM_000026.4(ADSL):c.328G>A (p.Ala110Thr)	158	ADSL	Uncertain significance	-1	RCV003051256;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746010	40746010	NC_000022.10:g.40746010G>A	-
NM_000026.4(ADSL):c.342T>C (p.Tyr114=)	158	ADSL	Likely benign	147017931	RCV001460125;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746024	40746024	40746024	-
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu)	158	ADSL	Uncertain significance	768596079	RCV001058729;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746029	40746029	22:g.40746029G>A	-
NM_000026.4(ADSL):c.357T>C (p.Thr119=)	158	ADSL	Uncertain significance	2146623601	RCV001871168;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746039	40746039	40746039	-
NM_000026.4(ADSL):c.357+4G>A	158	ADSL	Uncertain significance	1230823834	RCV001339567;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746043	40746043	40746043	-
NM_000026.4(ADSL):c.357+6C>T	158	ADSL	Conflicting interpretations of pathogenicity	181628906	RCV000123547\|RCV000289803\|RCV000710482;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40746045	40746045	22:g.40746045C>T	ClinGen:CA289316	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.357+7G>A	158	ADSL	Conflicting interpretations of pathogenicity	199993991	RCV000123548\|RCV000347351\|RCV000726640;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40746046	40746046	22:g.40746046G>A	ClinGen:CA289317	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.357+7G>T	158	ADSL	Likely benign	199993991	RCV001730224\|RCV002073416;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746046	40746046	40746046	-
NM_000026.4(ADSL):c.357+10T>G	158	ADSL	Likely benign	2146623665	RCV001922050;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746049	40746049	40746049	-
NM_000026.4(ADSL):c.357+15_357+22dup	158	ADSL	Likely benign	-1	RCV003112071;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746053	40746054	NC_000022.10:g.40746054_40746061dup	-
NM_000026.4(ADSL):c.358-5C>T	158	ADSL	Likely benign	769856337	RCV000442525\|RCV002062641;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749072	40749072	22:g.40749072C>T	ClinGen:CA10247687	CN169374 not specified;
NM_000026.4(ADSL):c.358-4G>A	158	ADSL	Benign	113199851	RCV000116238\|RCV000233479\|RCV000710483;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40749073	40749073	22:g.40749073G>A	ClinGen:CA288668	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.363G>A (p.Leu121=)	158	ADSL	Conflicting interpretations of pathogenicity	138203195	RCV000123552\|RCV000864071;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749082	40749082	22:g.40749082G>A	ClinGen:CA289320	CN169374 not specified;
NM_000026.4(ADSL):c.366T>G (p.Ile122Met)	158	ADSL	Uncertain significance	2044410316	RCV001228244;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749085	40749085	22:g.40749085T>G	-
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile)	158	ADSL	Uncertain significance	2044410415	RCV001228245;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749089	40749089	22:g.40749089C>A	-
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser)	158	ADSL	Uncertain significance	771267221	RCV000186707\|RCV001035904;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749096	40749096	NC_000022.10:g.40749096A>G	ClinGen:CA313136
NM_000026.4(ADSL):c.386A>G (p.Asp129Gly)	158	ADSL	Uncertain significance	-1	RCV002303659;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749105	40749105	40749105	-
NM_000026.4(ADSL):c.402+6G>A	158	ADSL	Uncertain significance	2146634344	RCV001948178;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749127	40749127	40749127	-
NM_000026.4(ADSL):c.402+18G>A	158	ADSL	Likely benign	753085563	RCV002202860;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749139	40749139	40749139	-
NM_000026.4(ADSL):c.403-21_403-6del	158	ADSL	Likely benign	-1	RCV002615858;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750224	40750239	NC_000022.10:g.40750231_40750246del	-
NM_000026.4(ADSL):c.403-16A>G	158	ADSL	Likely benign	-1	RCV002599072;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750236	40750236	NC_000022.10:g.40750236A>G	-
NM_000026.4(ADSL):c.403-7C>A	158	ADSL	Likely benign	1601565699	RCV001410890;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750245	40750245	22:g.40750245C>A	-
NM_000026.4(ADSL):c.403-7C>T	158	ADSL	Likely benign	1601565699	RCV002107028;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750245	40750245	40750245	-
NM_000026.4(ADSL):c.403-7del	158	ADSL	Likely benign	-1	RCV003023913;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750245	40750245	NC_000022.10:g.40750245del	-
NM_000026.4(ADSL):c.403-5T>C	158	ADSL	Uncertain significance	-1	RCV003003030;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750247	40750247	NC_000022.10:g.40750247T>C	-
NM_000026.4(ADSL):c.403-4G>A	158	ADSL	Conflicting interpretations of pathogenicity	373652667	RCV000227251\|RCV000428118\|RCV000710484;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN169374\|MedGen:CN517202	22	40750248	40750248	NC_000022.10:g.40750248G>A	ClinGen:CA10247715	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.403-3T>C	158	ADSL	Uncertain significance	766286760	RCV001246622;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750249	40750249	22:g.40750249T>C	-
NM_000026.4(ADSL):c.407C>T (p.Ala136Val)	158	ADSL	Uncertain significance	1569091418	RCV000696779;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750256	40750256	NC_000022.10:g.40750256C>T	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.408C>T (p.Ala136=)	158	ADSL	Conflicting interpretations of pathogenicity	368166273	RCV000596859\|RCV001476772;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750257	40750257	22:g.40750257C>T	ClinGen:CA10247718	CN169374 not specified;
NM_000026.4(ADSL):c.414G>A (p.Val138=)	158	ADSL	Likely benign	-1	RCV002908334;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750263	40750263		-
NM_000026.4(ADSL):c.417C>T (p.Ile139=)	158	ADSL	Likely benign	1250387068	RCV002071105;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750266	40750266	40750266	-
NM_000026.4(ADSL):c.429C>T (p.Ala143=)	158	ADSL	Likely benign	754065119	RCV001394484;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750278	40750278	22:g.40750278C>T	-
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn)	158	ADSL	Uncertain significance	757413931	RCV001919331;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750279	40750279	40750279	-
NM_000026.4(ADSL):c.435T>C (p.Phe145=)	158	ADSL	Likely benign	2146638742	RCV001453919;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750284	40750284	40750284	-
NM_000026.4(ADSL):c.438T>C (p.Ala146=)	158	ADSL	Likely benign	779272702	RCV001459078;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750287	40750287	40750287	-
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)	158	ADSL	Conflicting interpretations of pathogenicity	746180694	RCV001330906;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750288	40750288	40750288	-
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)	158	ADSL	Benign	11089991	RCV000116239\|RCV000284062\|RCV000441107;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40750289	40750289	22:g.40750289A>T	ClinGen:CA288669,UniProtKB:P30566#VAR_037884	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.446G>A (p.Arg149Gln)	158	ADSL	Uncertain significance	747546394	RCV001220104;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750295	40750295	22:g.40750295G>A	-
NM_000026.4(ADSL):c.449C>G (p.Ala150Gly)	158	ADSL	Uncertain significance	-1	RCV002290232;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750298	40750298	40750298	-
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly)	158	ADSL	Uncertain significance	147194356	RCV000799764;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750300	40750300	22:g.40750300A>G	-
NM_000026.4(ADSL):c.462A>G (p.Thr154=)	158	ADSL	Likely benign	963510054	RCV002169316;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750311	40750311	40750311	-
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser)	158	ADSL	Uncertain significance	2044467047	RCV001323574;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750313	40750313	40750313	-
NM_000026.4(ADSL):c.465A>G (p.Leu155=)	158	ADSL	Likely benign	139543370	RCV001442662;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750314	40750314	22:g.40750314A>G	-
NM_000026.4(ADSL):c.475C>T (p.His159Tyr)	158	ADSL	Uncertain significance	1310213333	RCV001207292;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750324	40750324	22:g.40750324C>T	-
NM_000026.4(ADSL):c.480C>T (p.Phe160=)	158	ADSL	Likely benign	-1	RCV002735833;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750329	40750329		-
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg)	158	ADSL	Uncertain significance	8192457	RCV000186708\|RCV001308467;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750331	40750331	NC_000022.10:g.40750331A>G	ClinGen:CA313138
NM_000026.4(ADSL):c.482+3A>T	158	ADSL	Uncertain significance	-1	RCV002846218;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750334	40750334	NC_000022.10:g.40750334A>T	-
NM_000026.4(ADSL):c.482+8A>G	158	ADSL	Uncertain significance	886042606	RCV000356986\|RCV000459291;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750339	40750339	22:g.40750339A>G	ClinGen:CA10604469	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.482+9T>C	158	ADSL	Likely benign	770663865	RCV001504050;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750340	40750340	40750340	-
NM_000026.4(ADSL):c.482+16A>C	158	ADSL	Likely benign	921958536	RCV002118702;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750347	40750347	40750347	-
NM_000026.4(ADSL):c.482+16A>T	158	ADSL	Likely benign	-1	RCV002820420;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750347	40750347	NC_000022.10:g.40750347A>T	-
NM_000026.4(ADSL):c.483-19G>A	158	ADSL	Likely benign	-1	RCV002596184;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754849	40754849	NC_000022.10:g.40754849G>A	-
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)	158	ADSL	Conflicting interpretations of pathogenicity	1385675650	RCV001330907\|RCV001509099;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40754887	40754887	40754887	-
NM_000026.4(ADSL):c.511C>T (p.Arg171Cys)	158	ADSL	Uncertain significance	-1	RCV003072830;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754896	40754896	NC_000022.10:g.40754896C>T	-
NM_000026.4(ADSL):c.527T>C (p.Ile176Thr)	158	ADSL	Uncertain significance	-1	RCV002971710;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754912	40754912	NC_000022.10:g.40754912T>C	-
NM_000026.4(ADSL):c.528T>C (p.Ile176=)	158	ADSL	Likely benign	534209963	RCV001463128;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754913	40754913	40754913	-
NM_000026.4(ADSL):c.541A>T (p.Met181Leu)	158	ADSL	Uncertain significance	768542145	RCV000634532;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754926	40754926	NC_000022.10:g.40754926A>T	ClinGen:CA411640767	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.541A>G (p.Met181Val)	158	ADSL	Uncertain significance	768542145	RCV000700498\|RCV003279020;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MeSH:D030342,MedGen:C0950123	22	40754926	40754926	22:g.40754926A>G	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.543G>A (p.Met181Ile)	158	ADSL	Uncertain significance	-1	RCV002919148;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754928	40754928	NC_000022.10:g.40754928G>A	-
NM_000026.4(ADSL):c.563G>A (p.Arg188His)	158	ADSL	Conflicting interpretations of pathogenicity	761937276	RCV000432475\|RCV000473273;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754948	40754948	NC_000022.10:g.40754948G>A	ClinGen:CA10247756
NM_000026.4(ADSL):c.567C>T (p.Val189=)	158	ADSL	Benign/Likely benign	765353500	RCV000439679\|RCV000867063;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754952	40754952	22:g.40754952C>T	ClinGen:CA10247757	CN169374 not specified;
NM_000026.4(ADSL):c.572A>G (p.Asp191Gly)	158	ADSL	Uncertain significance	-1	RCV002833119;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754957	40754957	NC_000022.10:g.40754957A>G	-
NM_000026.4(ADSL):c.574G>T (p.Asp192Tyr)	158	ADSL	Uncertain significance	-1	RCV002295602;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754959	40754959	40754959	-
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro)	158	ADSL	Uncertain significance	2044667301	RCV001150920;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754963	40754963	22:g.40754963T>C	-
NM_000026.4(ADSL):c.579G>C (p.Leu193=)	158	ADSL	Conflicting interpretations of pathogenicity	751928831	RCV000349838\|RCV001150921;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754964	40754964	22:g.40754964G>C	ClinGen:CA10247759	CN169374 not specified;
NM_000026.4(ADSL):c.581G>A (p.Arg194His)	158	ADSL	Conflicting interpretations of pathogenicity	755359802	RCV000634539\|RCV001269550;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40754966	40754966	22:g.40754966G>A	ClinGen:CA10247760	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp)	158	ADSL	Uncertain significance	376533106	RCV000704389;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754971	40754971	22:g.40754971C>T	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)	158	ADSL	Uncertain significance	753245184	RCV000442215\|RCV001330908;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754972	40754972	NC_000022.10:g.40754972G>A	ClinGen:CA10247762
NM_000026.4(ADSL):c.587G>T (p.Arg196Leu)	158	ADSL	Likely benign	-1	RCV002766030;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754972	40754972	NC_000022.10:g.40754972G>T	-
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu)	158	ADSL	Uncertain significance	2146653850	RCV001888192;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754975	40754975	40754975	-
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp)	158	ADSL	Uncertain significance	2044668344	RCV001055322;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754993	40754993	22:g.40754993G>A	-
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser)	158	ADSL	Uncertain significance	745524617	RCV000804178;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754996	40754996	22:g.40754996C>G	-
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile)	158	ADSL	Uncertain significance	745524617	RCV001986185;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754996	40754996	40754996	-
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)	158	ADSL	Conflicting interpretations of pathogenicity	148411623	RCV000186675\|RCV000766357\|RCV001082607;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755001	40755001	NC_000022.10:g.40755001G>T	ClinGen:CA313090
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly)	158	ADSL	Uncertain significance	746848060	RCV001336062;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755002	40755002	40755002	-
NM_000026.4(ADSL):c.618C>T (p.Ala206=)	158	ADSL	Uncertain significance	-1	RCV003016158;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755003	40755003		-
NM_000026.4(ADSL):c.621T>C (p.Ser207=)	158	ADSL	Likely benign	-1	RCV003115913;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755006	40755006		-
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr)	158	ADSL	Uncertain significance	776615568	RCV000824613;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755008	40755008	22:g.40755008T>A	-
NM_000026.4(ADSL):c.632T>A (p.Leu211His)	158	ADSL	Uncertain significance	2044669605	RCV001237538;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755017	40755017	22:g.40755017T>A	-
NM_000026.4(ADSL):c.639G>T (p.Glu213Asp)	158	ADSL	Uncertain significance	-1	RCV003007372;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755024	40755024	NC_000022.10:g.40755024G>T	-
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly)	158	ADSL	Uncertain significance	1311483271	RCV001368288;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755029	40755029	40755029	-
NM_000026.4(ADSL):c.649C>G (p.His217Asp)	158	ADSL	Benign/Likely benign	199761158	RCV000186672\|RCV000230022\|RCV001080646;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755034	40755034	22:g.40755034C>G	ClinGen:CA245884	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.649C>T (p.His217Tyr)	158	ADSL	Uncertain significance	199761158	RCV000797767;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755034	40755034	22:g.40755034C>T	-
NM_000026.4(ADSL):c.655-42_655-8del	158	ADSL	Uncertain significance	2146654480	RCV002041321;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755220	40755254	40755219	-
NM_000026.4(ADSL):c.655-11T>G	158	ADSL	Likely benign	780906231	RCV002185599;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755253	40755253	40755253	-
NM_000026.4(ADSL):c.655-9C>G	158	ADSL	Likely benign	1334564416	RCV002203411;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755255	40755255	40755255	-
NM_000026.4(ADSL):c.655G>A (p.Val219Ile)	158	ADSL	Uncertain significance	1555907605	RCV000552936;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755264	40755264	22:g.40755264G>A	ClinGen:CA411641687	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.655G>T (p.Val219Leu)	158	ADSL	Uncertain significance	1555907605	RCV001303310;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755264	40755264	40755264	-
NM_000026.4(ADSL):c.684A>G (p.Glu228=)	158	ADSL	Likely benign	2146654775	RCV001480293;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755293	40755293	40755293	-
NM_000026.4(ADSL):c.701+3A>G	158	ADSL	Uncertain significance	-1	RCV003091874;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755313	40755313	NC_000022.10:g.40755313A>G	-
NM_000026.4(ADSL):c.701+7A>C	158	ADSL	Likely benign	-1	RCV002847840;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755317	40755317	NC_000022.10:g.40755317A>C	-
NM_000026.4(ADSL):c.702-19C>G	158	ADSL	Likely benign	1396036308	RCV002169732;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756387	40756387	40756387	-
NM_000026.4(ADSL):c.702-15T>C	158	ADSL	Likely benign	2146658569	RCV002166841;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756391	40756391	40756391	-
NM_000026.4(ADSL):c.702-7T>C	158	ADSL	Conflicting interpretations of pathogenicity	201509960	RCV000186673\|RCV000723924\|RCV001081511;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756399	40756399	22:g.40756399T>C	ClinGen:CA233448	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.702-7T>A	158	ADSL	Likely benign	201509960	RCV002141471;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756399	40756399	40756399	-
NM_000026.4(ADSL):c.702-5C>G	158	ADSL	Likely benign	751224448	RCV002603257;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756401	40756401	NC_000022.10:g.40756401C>G	-
NM_000026.4(ADSL):c.702-3T>A	158	ADSL	Uncertain significance	1229114572	RCV001150922;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756403	40756403	22:g.40756403T>A	-
NM_000026.4(ADSL):c.708C>T (p.Phe236=)	158	ADSL	Likely benign	1210367027	RCV002190158;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756412	40756412	40756412	-
NM_000026.4(ADSL):c.712A>G (p.Ile238Val)	158	ADSL	Uncertain significance	2146658688	RCV001971176;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756416	40756416	40756416	-
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)	158	ADSL	Uncertain significance	374047157	RCV000767889;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756438	40756438	NC_000022.10:g.40756438G>A	-
NM_000026.4(ADSL):c.735A>T (p.Arg245=)	158	ADSL	Conflicting interpretations of pathogenicity	143977255	RCV000186609\|RCV000723714\|RCV001079876;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756439	40756439	22:g.40756439A>T	ClinGen:CA220244	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del)	158	ADSL	Uncertain significance	769288234	RCV002009819;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756455	40756463	40756454	-
NM_000026.4(ADSL):c.754C>T (p.Leu252=)	158	ADSL	Likely benign	1475251951	RCV002081361;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756458	40756458	40756458	-
NM_000026.4(ADSL):c.763C>T (p.Leu255=)	158	ADSL	Conflicting interpretations of pathogenicity	771049726	RCV000341448\|RCV002261074;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40756467	40756467	NC_000022.10:g.40756467C>T	ClinGen:CA10247805	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.769A>G (p.Ser257Gly)	158	ADSL	Uncertain significance	775115015	RCV000552133;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756473	40756473	22:g.40756473A>G	ClinGen:CA10247806	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.770G>A (p.Ser257Asn)	158	ADSL	Uncertain significance	-1	RCV002624530;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756474	40756474	NC_000022.10:g.40756474G>A	-
NM_000026.4(ADSL):c.779C>T (p.Ala260Val)	158	ADSL	Uncertain significance	1601586537	RCV000797966;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756483	40756483	22:g.40756483C>T	-
NM_000026.4(ADSL):c.780A>C (p.Ala260=)	158	ADSL	Likely benign	-1	RCV003054962;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756484	40756484		-
NM_000026.4(ADSL):c.785T>C (p.Val262Ala)	158	ADSL	Uncertain significance	2044740915	RCV001206286;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756489	40756489	22:g.40756489T>C	-
NM_000026.4(ADSL):c.789C>T (p.His263=)	158	ADSL	Likely benign	772388333	RCV002163229;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756493	40756493	40756493	-
NM_000026.4(ADSL):c.792+5G>C	158	ADSL	Uncertain significance	761153103	RCV001916584;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756501	40756501	40756501	-
NM_000026.4(ADSL):c.792+6T>C	158	ADSL	Uncertain significance	768892416	RCV001305891;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756502	40756502	40756502	-
NM_000026.4(ADSL):c.792+15C>T	158	ADSL	Likely benign	-1	RCV002976622;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756511	40756511	NC_000022.10:g.40756511C>T	-
NM_000026.4(ADSL):c.793-11A>G	158	ADSL	Likely benign	-1	RCV002958496;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757266	40757266	NC_000022.10:g.40757266A>G	-
NM_000026.4(ADSL):c.793-5C>A	158	ADSL	Conflicting interpretations of pathogenicity	377164829	RCV000427551\|RCV002521728;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757272	40757272	22:g.40757272C>A	ClinGen:CA10247832	CN169374 not specified;
NM_000026.4(ADSL):c.793-4C>T	158	ADSL	Likely benign	762409643	RCV002093682;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757273	40757273	40757273	-
NM_000026.4(ADSL):c.793-3C>T	158	ADSL	Uncertain significance	2044774129	RCV001046900;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757274	40757274	22:g.40757274C>T	-
NM_000026.4(ADSL):c.801C>T (p.Thr267=)	158	ADSL	Likely benign	369069575	RCV000634541;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757285	40757285	NC_000022.10:g.40757285C>T	ClinGen:CA10247834	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.805A>G (p.Ile269Val)	158	ADSL	Uncertain significance	759104126	RCV000498307\|RCV000706115;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757289	40757289	NC_000022.10:g.40757289A>G	ClinGen:CA10247836
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)	158	ADSL	Uncertain significance	181252862	RCV000402231;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757292	40757292	NC_000022.10:g.40757292C>T	ClinGen:CA10247839	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.809G>A (p.Arg270His)	158	ADSL	Uncertain significance	760189192	RCV001225335;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757293	40757293	22:g.40757293G>A	-
NM_000026.4(ADSL):c.816G>A (p.Leu272=)	158	ADSL	Likely benign	-1	RCV003032737;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757300	40757300		-
NM_000026.4(ADSL):c.818C>T (p.Ala273Val)	158	ADSL	Uncertain significance	962521087	RCV001338123;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757302	40757302	40757302	-
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp)	158	ADSL	Uncertain significance	2146662052	RCV001941136;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757304	40757304	40757304	-
NM_000026.4(ADSL):c.832A>G (p.Met278Val)	158	ADSL	Uncertain significance	2044778052	RCV001219514;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757316	40757316	22:g.40757316A>G	-
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg)	158	ADSL	Uncertain significance	371529148	RCV000818257\|RCV002535467;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757326	40757326	22:g.40757326C>G	-
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu)	158	ADSL	Uncertain significance	371529148	RCV001062284;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757326	40757326	22:g.40757326C>T	-
NM_000026.4(ADSL):c.843C>T (p.Pro281=)	158	ADSL	Likely benign	1555908183	RCV000532703;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757327	40757327	NC_000022.10:g.40757327C>T	ClinGen:CA514615261	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.845T>C (p.Phe282Ser)	158	ADSL	Uncertain significance	2146662152	RCV001891766;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757329	40757329	40757329	-
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu)	158	ADSL	Uncertain significance	796052246	RCV001062077;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757337	40757337	22:g.40757337C>G	-
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg)	158	ADSL	Uncertain significance	2044779637	RCV001340795;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757338	40757338	40757338	-
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu)	158	ADSL	Uncertain significance	376912453	RCV000521719\|RCV001853643;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757340	40757340	NC_000022.10:g.40757340C>G	ClinGen:CA10247845
NM_000026.4(ADSL):c.859A>G (p.Ile287Val)	158	ADSL	Uncertain significance	1209918065	RCV001934126;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757343	40757343	40757343	-
NM_000026.4(ADSL):c.862+10G>A	158	ADSL	Likely benign	747275092	RCV000981625;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757356	40757356	22:g.40757356G>A	-
NM_000026.4(ADSL):c.862+13T>C	158	ADSL	Likely benign	768716895	RCV002118959;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757359	40757359	40757359	-
NM_000026.4(ADSL):c.863-20T>G	158	ADSL	Likely benign	760407114	RCV000607072\|RCV002066609;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757472	40757472	22:g.40757472T>G	ClinGen:CA10247857	CN169374 not specified;
NM_000026.4(ADSL):c.863-18C>T	158	ADSL	Likely benign	2146662900	RCV002214981;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757474	40757474	40757474	-
NM_000026.4(ADSL):c.863-11T>C	158	ADSL	Likely benign	375532126	RCV000828825\|RCV002062226;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757481	40757481	22:g.40757481T>C	-
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala)	158	ADSL	Uncertain significance	776328750	RCV001918127\|RCV003128825;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40757492	40757492	40757492	-
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn)	158	ADSL	Uncertain significance	2044788172	RCV001220741;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757498	40757498	22:g.40757498G>A	-
NM_000026.4(ADSL):c.870T>C (p.Ser290=)	158	ADSL	Likely benign	146890981	RCV000634542;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757499	40757499	22:g.40757499T>C	ClinGen:CA10247861	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.872C>T (p.Ala291Val)	158	ADSL	Uncertain significance	2044788378	RCV001150923;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757501	40757501	22:g.40757501C>T	-
NM_000026.4(ADSL):c.873G>A (p.Ala291=)	158	ADSL	Likely benign	765122847	RCV001422082;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757502	40757502	22:g.40757502G>A	-
NM_000026.4(ADSL):c.879A>G (p.Pro293=)	158	ADSL	Likely benign	758359453	RCV001394381;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757508	40757508	40757508	-
NM_000026.4(ADSL):c.880T>C (p.Tyr294His)	158	ADSL	Benign	8192461	RCV000540883\|RCV001721189;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40757509	40757509	NC_000022.10:g.40757509T>C	ClinGen:CA313101	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)	158	ADSL	Conflicting interpretations of pathogenicity	536254357	RCV000521643\|RCV001350739\|RCV001814999\|RCV002527600;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	22	40757515	40757515	NC_000022.10:g.40757515C>T	ClinGen:CA10247865
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)	158	ADSL	Uncertain significance	755059672	RCV000553354\|RCV000728589;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757516	40757516	NC_000022.10:g.40757516G>A	ClinGen:CA10247866	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.891T>A (p.Asn297Lys)	158	ADSL	Uncertain significance	2044789747	RCV001914563;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757520	40757520	40757520	-
NM_000026.4(ADSL):c.894C>T (p.Pro298=)	158	ADSL	Likely benign	145469983	RCV001493234;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757523	40757523	40757523	-
NM_000026.4(ADSL):c.895A>G (p.Met299Val)	158	ADSL	Conflicting interpretations of pathogenicity	34396910	RCV000710485\|RCV001087090;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757524	40757524	NC_000022.10:g.40757524A>G	ClinGen:CA247928	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.896T>C (p.Met299Thr)	158	ADSL	Uncertain significance	1364564756	RCV000808407;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757525	40757525	22:g.40757525T>C	-
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser)	158	ADSL	Uncertain significance	369617680	RCV000498255\|RCV001857014;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757527	40757527	NC_000022.10:g.40757527C>A	ClinGen:CA324458491
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys)	158	ADSL	Uncertain significance	369617680	RCV000634537;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757527	40757527	22:g.40757527C>T	ClinGen:CA411643943	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.899G>A (p.Arg300His)	158	ADSL	Uncertain significance	864309550	RCV000202823\|RCV001220450;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757528	40757528	22:g.40757528G>A	ClinGen:CA249024	CN169374 not specified;
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly)	158	ADSL	Uncertain significance	2146663371	RCV001910276;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757542	40757542	40757542	-
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly)	158	ADSL	Uncertain significance	1006262492	RCV000473217;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757545	40757545	NC_000022.10:g.40757545A>G	ClinGen:CA16616389	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.919C>T (p.Leu307Phe)	158	ADSL	Uncertain significance	2044790556	RCV001208135;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757548	40757548	22:g.40757548C>T	-
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)	158	ADSL	Uncertain significance	376357524	RCV000186683\|RCV000764387;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757554	40757554	NC_000022.10:g.40757554C>T	ClinGen:CA313103
NM_000026.4(ADSL):c.926G>A (p.Arg309His)	158	ADSL	Uncertain significance	749817666	RCV000465601\|RCV000443295;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757555	40757555	NC_000022.10:g.40757555G>A	ClinGen:CA10247869
NM_000026.4(ADSL):c.946A>G (p.Met316Val)	158	ADSL	Uncertain significance	2044791557	RCV001262431;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757575	40757575	22:g.40757575A>G	-
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)	158	ADSL	Conflicting interpretations of pathogenicity	202064195	RCV000186684\|RCV000278336;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757582	40757582	NC_000022.10:g.40757582C>T	ClinGen:CA313105,UniProtKB:P30566#VAR_017084
NM_000026.4(ADSL):c.954G>A (p.Pro318=)	158	ADSL	Likely benign	-1	RCV003087457;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757583	40757583		-
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile)	158	ADSL	Uncertain significance	1243449413	RCV001043302;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757591	40757591	22:g.40757591C>T	-
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg)	158	ADSL	Uncertain significance	1484677062	RCV001911829;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757603	40757603	40757603	-
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys)	158	ADSL	Uncertain significance	1224557562	RCV001304564;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757607	40757607	40757607	-
NM_000026.4(ADSL):c.979T>C (p.Phe327Leu)	158	ADSL	Uncertain significance	-1	RCV002833454;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757608	40757608	NC_000022.10:g.40757608T>C	-
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys)	158	ADSL	Uncertain significance	370221257	RCV001312484;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757614	40757614	40757614	-
NM_000026.4(ADSL):c.986G>A (p.Arg329His)	158	ADSL	Uncertain significance	768203123	RCV000726396\|RCV001042231;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757615	40757615	NC_000022.10:g.40757615G>A	ClinGen:CA10247872
NM_000026.4(ADSL):c.999T>C (p.Asp333=)	158	ADSL	Likely benign	2146663670	RCV001496871;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757628	40757628	40757628	-
NM_000026.4(ADSL):c.1005C>G (p.Ala335=)	158	ADSL	Likely benign	-1	RCV002890142;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757634	40757634		-
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys)	158	ADSL	Uncertain significance	2146663691	RCV001941106;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757637	40757637	40757637	-
NM_000026.4(ADSL):c.1010+18A>G	158	ADSL	Benign	201019280	RCV000123545\|RCV001699040\|RCV002055395;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757657	40757657	22:g.40757657A>G	ClinGen:CA289315	CN169374 not specified;
NM_000026.4(ADSL):c.1011-18T>C	158	ADSL	Likely benign	779350776	RCV002207835;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758967	40758967	40758967	-
NM_000026.4(ADSL):c.1011-17G>A	158	ADSL	Likely benign	-1	RCV002857136;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758968	40758968	NC_000022.10:g.40758968G>A	-
NM_000026.4(ADSL):c.1011-13A>G	158	ADSL	Likely benign	768058696	RCV002106145;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758972	40758972	40758972	-
NM_000026.4(ADSL):c.1011-9G>C	158	ADSL	Conflicting interpretations of pathogenicity	780794164	RCV001150924;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758976	40758976	22:g.40758976G>C	-
NM_000026.4(ADSL):c.1011-5del	158	ADSL	Benign	1569101323	RCV001511240;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758977	40758977	40758976	-
NM_000026.4(ADSL):c.1011-3T>C	158	ADSL	Uncertain significance	1376448837	RCV000822000;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758982	40758982	22:g.40758982T>C	-
NM_000026.4(ADSL):c.1013G>T (p.Arg338Leu)	158	ADSL	Uncertain significance	-1	RCV002301506;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758987	40758987	40758987	-
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn)	158	ADSL	Uncertain significance	772974251	RCV000484518\|RCV001302302\|RCV002526952;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MeSH:D030342,MedGen:C0950123	22	40758990	40758990	NC_000022.10:g.40758990T>A	ClinGen:CA10247891
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)	158	ADSL	Uncertain significance	774159147	RCV000810822;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759001	40759001	22:g.40759001G>A	-
NM_000026.4(ADSL):c.1041C>T (p.Thr347=)	158	ADSL	Likely benign	767608764	RCV002095878;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759015	40759015	40759015	-
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr)	158	ADSL	Uncertain significance	752735865	RCV001201984;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759016	40759016	22:g.40759016G>A	-
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val)	158	ADSL	Uncertain significance	2146667776	RCV001362139;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759025	40759025	40759025	-
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met)	158	ADSL	Uncertain significance	151095874	RCV001294247;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759027	40759027	40759027	-
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala)	158	ADSL	Uncertain significance	75953451	RCV000432959\|RCV000634536;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759034	40759034	NC_000022.10:g.40759034A>G	ClinGen:CA239081
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met)	158	ADSL	Uncertain significance	752238667	RCV000186686\|RCV001857600;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759035	40759035	NC_000022.10:g.40759035C>T	ClinGen:CA313106
NM_000026.4(ADSL):c.1071C>T (p.Asn357=)	158	ADSL	Likely benign	1455722783	RCV002218541;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759045	40759045	40759045	-
NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg)	158	ADSL	Uncertain significance	-1	RCV002934029;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759055	40759055	NC_000022.10:g.40759055G>A	-
NM_000026.4(ADSL):c.1088T>C (p.Val363Ala)	158	ADSL	Conflicting interpretations of pathogenicity	758895348	RCV001550362\|RCV002570686;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759062	40759062	40759062	-
NM_000026.4(ADSL):c.1089C>T (p.Val363=)	158	ADSL	Likely benign	368373129	RCV001427748\|RCV001703619;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40759063	40759063	22:g.40759063C>T	ClinGen:CA10247904	CN169374 not specified;
NM_000026.4(ADSL):c.1092G>A (p.Val364=)	158	ADSL	Likely benign	1303477707	RCV002133705;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759066	40759066	40759066	-
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His)	158	ADSL	Uncertain significance	1395622939	RCV001979832;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759067	40759067	40759067	-
NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala)	158	ADSL	Uncertain significance	-1	RCV002863402;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759070	40759070	NC_000022.10:g.40759070C>G	-
NM_000026.4(ADSL):c.1101+6_1101+8del	158	ADSL	Uncertain significance	2146668021	RCV001365221;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759078	40759080	40759077	-
NM_000026.4(ADSL):c.1101+10C>T	158	ADSL	Likely benign	1274084136	RCV002196366;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759085	40759085	40759085	-
NC_000022.11:g.(?_40364256)_(40366542_?)dup	158	ADSL	Uncertain significance	-1	RCV001032082;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760260	40762546	-1	-
NM_000026.4(ADSL):c.1102-18C>G	158	ADSL	Benign/Likely benign	764157832	RCV001613498\|RCV001866258;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760262	40760262	40760262	-
NM_000026.4(ADSL):c.1102-17C>T	158	ADSL	Likely benign	754015340	RCV002178925;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760263	40760263	40760263	-
NM_000026.4(ADSL):c.1102-16G>A	158	ADSL	Likely benign	200428249	RCV000614052\|RCV002063132;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760264	40760264	22:g.40760264G>A	ClinGen:CA10247918	CN169374 not specified;
NM_000026.4(ADSL):c.1102-15dup	158	ADSL	Likely benign	1413779867	RCV002134102;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760264	40760265	40760264	-
NM_000026.4(ADSL):c.1102-16G>T	158	ADSL	Likely benign	200428249	RCV002094972;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760264	40760264	40760264	-
NM_000026.4(ADSL):c.1102-14A>G	158	ADSL	Likely benign	-1	RCV003013314;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760266	40760266	NC_000022.10:g.40760266A>G	-
NM_000026.4(ADSL):c.1102-7C>T	158	ADSL	Likely benign	1001524766	RCV001396334;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760273	40760273	40760273	-
NM_000026.4(ADSL):c.1102-6C>G	158	ADSL	Uncertain significance	758666194	RCV001064875;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760274	40760274	22:g.40760274C>G	-
NM_000026.4(ADSL):c.1102-4A>G	158	ADSL	Likely benign	371780382	RCV001326174;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760276	40760276	40760276	-
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)	158	ADSL	Conflicting interpretations of pathogenicity	752104617	RCV001786850\|RCV002034624;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760283	40760283	40760283	-
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)	158	ADSL	Uncertain significance	755688868	RCV000335846;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760284	40760284	NC_000022.10:g.40760284T>C	ClinGen:CA10247923	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1111C>T (p.Arg371Trp)	158	ADSL	Uncertain significance	777359946	RCV000544204\|RCV002221554;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40760289	40760289	NC_000022.10:g.40760289C>T	ClinGen:CA324460176	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln)	158	ADSL	Conflicting interpretations of pathogenicity	192303222	RCV000697137\|RCV000723724;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40760290	40760290	NC_000022.10:g.40760290G>A	ClinGen:CA220242
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser)	158	ADSL	Uncertain significance	778401578	RCV000696185;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760292	40760292	22:g.40760292C>A	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1115G>A (p.Arg372His)	158	ADSL	Uncertain significance	150228971	RCV000186688\|RCV000467182;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760293	40760293	NC_000022.10:g.40760293G>A	ClinGen:CA313108
NM_000026.4(ADSL):c.1117A>G (p.Ile373Val)	158	ADSL	Uncertain significance	-1	RCV002917630;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760295	40760295	NC_000022.10:g.40760295A>G	-
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp)	158	ADSL	Conflicting interpretations of pathogenicity	376533026	RCV000427780\|RCV000821230;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760298	40760298	NC_000022.10:g.40760298C>T	ClinGen:CA10247929
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln)	158	ADSL	Uncertain significance	568567422	RCV000483104\|RCV000634533;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760299	40760299	NC_000022.10:g.40760299G>A	ClinGen:CA10247930
NM_000026.4(ADSL):c.1122G>T (p.Arg374=)	158	ADSL	Likely benign	2146671725	RCV001436627;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760300	40760300	40760300	-
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)	158	ADSL	Conflicting interpretations of pathogenicity	796052247	RCV000186689\|RCV001852436;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760306	40760306	NC_000022.10:g.40760306G>C	ClinGen:CA313110
NM_000026.4(ADSL):c.1128G>A (p.Glu376=)	158	ADSL	Likely benign	796052247	RCV002181391;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760306	40760306	40760306	-
NM_000026.4(ADSL):c.1138A>G (p.Met380Val)	158	ADSL	Uncertain significance	368160421	RCV002005733;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760316	40760316	40760316	-
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile)	158	ADSL	Uncertain significance	2044914041	RCV001990163;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760323	40760323	40760323	-
NM_000026.4(ADSL):c.1159A>G (p.Met387Val)	158	ADSL	Uncertain significance	1264910912	RCV001988172;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760337	40760337	40760337	-
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile)	158	ADSL	Uncertain significance	766782678	RCV000412930\|RCV001351733;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760345	40760345	22:g.40760345G>A	ClinGen:CA10247936	CN169374 not specified;
NM_000026.4(ADSL):c.1191+12dup	158	ADSL	Likely benign	1383604211	RCV001451543;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760377	40760378	40760377	-
NM_000026.4(ADSL):c.1191+8A>T	158	ADSL	Likely benign	1288865818	RCV002166393;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760377	40760377	40760377	-
NM_000026.4(ADSL):c.1191+9C>T	158	ADSL	Likely benign	371706528	RCV000865875\|RCV001704325;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:C3661900	22	40760378	40760378	22:g.40760378C>T	ClinGen:CA10247942	CN169374 not specified;
NM_000026.4(ADSL):c.1191+10C>G	158	ADSL	Likely benign	974462495	RCV002192206;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760379	40760379	40760379	-
NM_000026.4(ADSL):c.1191+11C>A	158	ADSL	Likely benign	1057523739	RCV000440784\|RCV002063532;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760380	40760380	22:g.40760380C>A	ClinGen:CA16608673	CN169374 not specified;
NM_000026.4(ADSL):c.1191+17G>A	158	ADSL	Likely benign	1160304907	RCV002207690;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760386	40760386	40760386	-
NM_000026.4(ADSL):c.1192-20A>G	158	ADSL	Likely benign	-1	RCV002629024;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760864	40760864	NC_000022.10:g.40760864A>G	-
NM_000026.4(ADSL):c.1192-20A>C	158	ADSL	Likely benign	-1	RCV002711453;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760864	40760864	NC_000022.10:g.40760864A>C	-
NM_000026.4(ADSL):c.1192-12C>T	158	ADSL	Likely benign	-1	RCV002867791;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760872	40760872	NC_000022.10:g.40760872C>T	-
NM_000026.4(ADSL):c.1192-5C>T	158	ADSL	Likely benign	563441974	RCV001610053\|RCV002072914;	N	MedGen:C3661900\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760879	40760879	40760879	-
NM_000026.4(ADSL):c.1200T>C (p.His400=)	158	ADSL	Conflicting interpretations of pathogenicity	751401941	RCV000407816;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760892	40760892	NC_000022.10:g.40760892T>C	ClinGen:CA10247962	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1207A>C (p.Ile403Leu)	158	ADSL	Uncertain significance	754714101	RCV000174209\|RCV001363767;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760899	40760899	22:g.40760899A>C	ClinGen:CA239717	CN169374 not specified;
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser)	158	ADSL	Uncertain significance	781253590	RCV000556894;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760904	40760904	22:g.40760904A>C	ClinGen:CA10247964	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr)	158	ADSL	Uncertain significance	1196254689	RCV000795626;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760923	40760923	22:g.40760923G>A	-
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe)	158	ADSL	Uncertain significance	571597579	RCV001039736;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760927	40760927	22:g.40760927C>T	-
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe)	158	ADSL	Uncertain significance	2146673676	RCV001952002;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760932	40760932	40760932	-
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg)	158	ADSL	Uncertain significance	372650859	RCV001338975;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760944	40760944	40760944	-
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)	158	ADSL	Uncertain significance	774693972	RCV001144829;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760945	40760945	22:g.40760945G>A	-
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)	158	ADSL	Uncertain significance	886057505	RCV000300825;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760948	40760948	NC_000022.10:g.40760948G>T	ClinGen:CA10651311	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1258G>A (p.Asp420Asn)	158	ADSL	Uncertain significance	2044942817	RCV001309060;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760950	40760950	40760950	-
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del)	158	ADSL	Uncertain significance	778107338	RCV001928209;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760953	40760955	40760952	-
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser)	158	ADSL	Uncertain significance	145750778	RCV000186691\|RCV000537481\|RCV003343677;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MeSH:D030342,MedGen:C0950123	22	40760954	40760954	NC_000022.10:g.40760954A>G	ClinGen:CA313113
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)	158	ADSL	Conflicting interpretations of pathogenicity	119450943	RCV000002568;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760956	40760956	22:g.40760956G>T	ClinGen:CA115567,UniProtKB:P30566#VAR_017089,OMIM:608222.0004	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1266C>T (p.Asp422=)	158	ADSL	Likely benign	-1	RCV002889191;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760958	40760958		-
NM_000026.4(ADSL):c.1269C>A (p.Leu423=)	158	ADSL	Likely benign	2146673771	RCV002188373;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760961	40760961	40760961	-
NM_000026.4(ADSL):c.1279A>G (p.Ile427Val)	158	ADSL	Uncertain significance	758241731	RCV000435716\|RCV000696181;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760971	40760971	NC_000022.10:g.40760971A>G	ClinGen:CA10247974
NM_000026.4(ADSL):c.1286T>C (p.Val429Ala)	158	ADSL	Uncertain significance	-1	RCV002579061;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760978	40760978	NC_000022.10:g.40760978T>C	-
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn)	158	ADSL	Uncertain significance	554254383	RCV001971049;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760980	40760980	40760980	UniProtKB:P30566#VAR_017091
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)	158	ADSL	Conflicting interpretations of pathogenicity	200814886	RCV000186695\|RCV000725224\|RCV001489163;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760983	40760983	NC_000022.10:g.40760983G>A	ClinGen:CA313118
NM_000026.4(ADSL):c.1295A>G (p.Tyr432Cys)	158	ADSL	Uncertain significance	-1	RCV002635169;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760987	40760987	NC_000022.10:g.40760987A>G	-
NM_000026.4(ADSL):c.1314C>G (p.Ser438=)	158	ADSL	Likely benign	2146674013	RCV001451269;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761006	40761006	40761006	-
NM_000026.4(ADSL):c.1318T>C (p.Leu440=)	158	ADSL	Likely benign	2044946403	RCV002146302;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761010	40761010	40761010	-
NM_000026.4(ADSL):c.1337C>A (p.Pro446His)	158	ADSL	Uncertain significance	755964863	RCV000726681\|RCV000785042;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761029	40761029	NC_000022.10:g.40761029C>A	ClinGen:CA10247979
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	158	ADSL	Conflicting interpretations of pathogenicity	777821034	RCV000186696\|RCV000763485;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761031	40761031	NC_000022.10:g.40761031T>C	ClinGen:CA313120,UniProtKB:P30566#VAR_017092
NM_000026.4(ADSL):c.1340C>T (p.Ser447Phe)	158	ADSL	Uncertain significance	749427506	RCV000437111\|RCV002522468;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761032	40761032	NC_000022.10:g.40761032C>T	ClinGen:CA10247980
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	158	ADSL	Conflicting interpretations of pathogenicity	771121666	RCV000224729\|RCV000526230\|RCV002516223;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MeSH:D030342,MedGen:C0950123	22	40761034	40761034	NC_000022.10:g.40761034T>C	ClinGen:CA10247981
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)	158	ADSL	Uncertain significance	1265053994	RCV000822391;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761035	40761035	22:g.40761035C>G	-
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile)	158	ADSL	Uncertain significance	372895468	RCV001369328;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761041	40761041	40761041	-
NM_000026.4(ADSL):c.1350T>C (p.Thr450=)	158	ADSL	Likely benign	200300396	RCV000634545;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761042	40761042	NC_000022.10:g.40761042T>C	ClinGen:CA10247982	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1354C>T (p.Arg452Cys)	158	ADSL	Uncertain significance	572438339	RCV001144830;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761046	40761046	22:g.40761046C>T	-
NM_000026.4(ADSL):c.1355G>A (p.Arg452His)	158	ADSL	Uncertain significance	775671027	RCV000634538;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761047	40761047	NC_000022.10:g.40761047G>A	ClinGen:CA10247984	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp)	158	ADSL	Uncertain significance	2044948939	RCV001313022;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761050	40761050	40761050	-
NM_000026.4(ADSL):c.1359C>T (p.Ala453=)	158	ADSL	Likely benign	1601598300	RCV001414468;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761051	40761051	22:g.40761051C>T	-
NM_000026.4(ADSL):c.1364dup (p.Gln456fs)	158	ADSL	Uncertain significance	-1	RCV002851081;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761055	40761056	NC_000022.10:g.40761056dup	-
NM_000026.4(ADSL):c.1365G>T (p.Gln455His)	158	ADSL	Uncertain significance	1011687452	RCV001048058;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761057	40761057	22:g.40761057G>T	-
NM_000026.4(ADSL):c.1368+4A>C	158	ADSL	Uncertain significance	2146674336	RCV002002918;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761064	40761064	40761064	-
NM_000026.4(ADSL):c.1368+8del	158	ADSL	Likely benign	758319423	RCV000478334\|RCV000873236;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761067	40761067	22:g.40761067_40761067del	ClinGen:CA10247986	CN169374 not specified;
NM_000026.4(ADSL):c.1368+10C>T	158	ADSL	Likely benign	1330219053	RCV001479043;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761070	40761070	22:g.40761070C>T	-
NM_000026.4(ADSL):c.1368+14A>C	158	ADSL	Likely benign	-1	RCV003110461;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761074	40761074	NC_000022.10:g.40761074A>C	-
NM_000026.4(ADSL):c.1369-17T>C	158	ADSL	Likely benign	758511561	RCV000418707\|RCV002526343;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762423	40762423	22:g.40762423T>C	ClinGen:CA10248002	CN169374 not specified;
NM_000026.4(ADSL):c.1369-7C>G	158	ADSL	Likely benign	780296394	RCV000603303\|RCV003105990;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762433	40762433	22:g.40762433C>G	ClinGen:CA10248003	CN169374 not specified;
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu)	158	ADSL	Uncertain significance	747385959	RCV002010606;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762440	40762440	40762440	-
NM_000026.4(ADSL):c.1371dup (p.Gln458fs)	158	ADSL	Uncertain significance	-1	RCV002596576;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762441	40762442	NC_000022.10:g.40762442dup	-
NM_000026.4(ADSL):c.1380C>T (p.Phe460=)	158	ADSL	Likely benign	2146678362	RCV002182218;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762451	40762451	40762451	-
NM_000026.4(ADSL):c.1381T>C (p.Leu461=)	158	ADSL	Likely benign	-1	RCV003002923;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762452	40762452		-
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu)	158	ADSL	Uncertain significance	1569104977	RCV000767890;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762464	40762464	NC_000022.10:g.40762464G>C	-
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)	158	ADSL	Conflicting interpretations of pathogenicity	1057521071	RCV000438014\|RCV000688125;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762471	40762471	NC_000022.10:g.40762471C>G	ClinGen:CA16609100
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile)	158	ADSL	Uncertain significance	768999974	RCV000634535;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762476	40762476	NC_000022.10:g.40762476T>A	ClinGen:CA411649238	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1413A>G (p.Pro471=)	158	ADSL	Uncertain significance	796674225	RCV000796829;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762484	40762484	22:g.40762484A>G	-
NM_000026.4(ADSL):c.1416T>C (p.Tyr472=)	158	ADSL	Likely benign	777123162	RCV001451067;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762487	40762487	40762487	-
NM_000026.4(ADSL):c.1422C>T (p.Ser474=)	158	ADSL	Likely benign	748593655	RCV001430088;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762493	40762493	22:g.40762493C>T	-
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg)	158	ADSL	Uncertain significance	748593655	RCV001973296;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762493	40762493	40762493	-
NM_000026.4(ADSL):c.1423G>A (p.Val475Met)	158	ADSL	Uncertain significance	1158489609	RCV001927594;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762494	40762494	40762494	-
NM_000026.4(ADSL):c.1431_1436del (p.Val478_Lys479del)	158	ADSL	Uncertain significance	-1	RCV002816386;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762498	40762503	NC_000022.10:g.40762502_40762507del	-
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile)	158	ADSL	Uncertain significance	773810168	RCV001878718;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762499	40762499	40762499	-
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly)	158	ADSL	Uncertain significance	796052250	RCV000727388\|RCV001313688;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762510	40762510	NC_000022.10:g.40762510C>G	ClinGen:CA313123
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp)	158	ADSL	Uncertain significance	1424823421	RCV001365973;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762514	40762514	40762514	-
NM_000026.4(ADSL):c.1444T>C (p.Leu482=)	158	ADSL	Likely benign	938446288	RCV001942040;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762515	40762515	40762515	-
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr)	158	ADSL	Uncertain significance	371242331	RCV001898164;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762519	40762519	40762519	-
NM_000026.4(ADSL):c.1452G>C (p.Leu484=)	158	ADSL	Likely benign	-1	RCV003108578;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762523	40762523		-
NM_000026.4(ADSL):c.1454A>G (p.Ter485Trp)	158	ADSL	Uncertain significance	-1	RCV002842372;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762525	40762525	NC_000022.10:g.40762525A>G	-
NM_000026.4(ADSL):c.*45A>T	158	ADSL	Uncertain significance	180726920	RCV000362664;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762571	40762571	NC_000022.10:g.40762571A>T	ClinGen:CA10248020	C0268126 103050 Adenylosuccinate lyase deficiency;

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