MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Autistic Disorder (D001321)
Parent Node: Purine-Pyrimidine Metabolism, Inborn Errors (D011686)
..Starting node ..Adenylosuccinate lyase deficiency (C538235)
Child Nodes:
Sister Nodes:
..Adenosine monophosphate deaminase deficiency (C538234)
..Adenylosuccinate lyase deficiency (C538235)
..Beta-Ureidopropionase Deficiency (C563210)
..Dihydropyrimidine Dehydrogenase Deficiency (D054067) 1
..Gout (D006073) 6
..Hyperuricemia, Infantile, with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase (C565489)
..Lesch-Nyhan Syndrome (D007926) 1
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Orotic Aciduria II (C562589)
..Oroticaciduria 1 (C537136)
..Phosphoribosylpyrophosphate synthetase deficiency (C537897)
..Phosphoribosylpyrophosphate Synthetase Superactivity (C567064)
..Pseudouridinuria and Mental Defect (C564864)
..Purine Nucleoside Phosphorylase Deficiency (C562587)
..Thiopurine S methyltranferase deficiency (C536512)
..THIOPURINES, POOR METABOLISM OF, 2 (OMIM:616903)
..Xanthinuria, Type II (C566358)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

317

Name:

Adenylosuccinate lyase deficiency

Definition:

Alternative IDs:

OMIM:103050

ParentIDs:

MESH:D001321|MESH:D011686

TreeNumbers:

C16.320.565.798/C538235 |C18.452.648.798/C538235 |F03.625.164.113.500/C538235

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Mental disorder|Metabolic disease

Reference:

MedGen: C538235
MeSH: C538235
OMIM: 103050;
MSeqDR :
Genes: ADSL; CYP17A1;

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_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
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	na	na	-1	-
NC_000022.10:g.40741466C>T	158	ADSL	Uncertain significance	-1	RCV001908672;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741466	40741466	C	T	40741466	-
NC_000022.10:g.40741476C>T	158	ADSL	Uncertain significance	-1	RCV001912018;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741476	40741476	C	T	40741476	-
NC_000022.10:g.40741477G>A	158	ADSL	Uncertain significance	-1	RCV001909183;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741477	40741477	G	A	40741477	-
NC_000022.10:g.40741485C>T	158	ADSL	Uncertain significance	-1	RCV001901336;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741485	40741485	C	T	40741485	-
NC_000022.10:g.40741488A>C	158	ADSL	Uncertain significance	-1	RCV001999475;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741488	40741488	A	C	40741488	-
NC_000022.10:g.40741499T>C	158	ADSL	Uncertain significance	-1	RCV001945369;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741499	40741499	T	C	40741499	-
NC_000022.10:g.40741502_40741503insA	158	ADSL	Benign	-1	RCV001518384;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741502	40741503	T	TA	40741502	-
NC_000022.10:g.40741506G>A	158	ADSL	Uncertain significance	-1	RCV002026897;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741506	40741506	G	A	40741506	-
NC_000022.10:g.40741511A>T	158	ADSL	Uncertain significance	-1	RCV001994914;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741511	40741511	A	T	40741511	-
NC_000022.10:g.40741517A>C	158	ADSL	Uncertain significance	-1	RCV001891674;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741517	40741517	A	C	40741517	-
NC_000022.10:g.40741520C>T	158	ADSL	Benign	-1	RCV001515756;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741520	40741520	C	T	40741520	-
NC_000022.10:g.40741534C>T	158	ADSL	Uncertain significance	-1	RCV002018567;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741534	40741534	C	T	40741534	-
NC_000022.10:g.40741548T>C	158	ADSL	Uncertain significance	-1	RCV001995005;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741548	40741548	T	C	40741548	-
NC_000022.10:g.40741564T>C	158	ADSL	Uncertain significance	-1	RCV001911031;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741564	40741564	T	C	40741564	-
NC_000022.10:g.40741567C>T	158	ADSL	Uncertain significance	-1	RCV001914936;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741567	40741567	C	T	40741567	-
NC_000022.10:g.40741570G>T	158	ADSL	Uncertain significance	-1	RCV001988502;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741570	40741570	G	T	40741570	-
NC_000022.10:g.40741572C>A	158	ADSL	Uncertain significance	-1	RCV002004322;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741572	40741572	C	A	40741572	-
NC_000022.10:g.40741591A>G	158	ADSL	Uncertain significance	-1	RCV002027468;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741591	40741591	A	G	40741591	-
NC_000022.10:g.40741592A>G	158	ADSL	Benign	-1	RCV001516263;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741592	A	G	40741592	-
NC_000022.10:g.40741592_40741593insAAAAG	158	ADSL	Benign	-1	RCV001523319;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593	A	AAAAAG	40741592	-
NC_000022.10:g.40741592_40741593insGG	158	ADSL	Benign	-1	RCV001512314;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593	A	AGG	40741592	-
NC_000022.10:g.40741592_40741593insAAAAAAAGG	158	ADSL	Benign	-1	RCV002215174;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593	A	AAAAAAAAGG	40741592	-
NC_000022.10:g.40741592_40741593insAG	158	ADSL	Benign	-1	RCV002204990;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741592	40741593	A	AAG	40741592	-
NC_000022.10:g.40741593G>A	158	ADSL	Benign	-1	RCV001523322;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741593	40741593	G	A	40741593	-
NC_000022.10:g.40741593del	158	ADSL	Benign	-1	RCV002117904;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741593	40741593	AG	A	40741592	-
NC_000022.10:g.40741594G>T	158	ADSL	Uncertain significance	-1	RCV001971139;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741594	40741594	G	T	40741594	-
NC_000022.10:g.40741594G>A	158	ADSL	Uncertain significance	-1	RCV001886568;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741594	40741594	G	A	40741594	-
NC_000022.10:g.40741594G>C	158	ADSL	Likely benign	-1	RCV002114644;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741594	40741594	G	C	40741594	-
NC_000022.10:g.40741596G>A	158	ADSL	Uncertain significance	-1	RCV002023447;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741596	40741596	G	A	40741596	-
NC_000022.10:g.40741599G>T	158	ADSL	Uncertain significance	-1	RCV001966498;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741599	40741599	G	T	40741599	-
NC_000022.10:g.40741601G>A	158	ADSL	Uncertain significance	-1	RCV002049097;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741601	40741601	G	A	40741601	-
NC_000022.10:g.40741601G>T	158	ADSL	Uncertain significance	-1	RCV001969399;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741601	40741601	G	T	40741601	-
NC_000022.10:g.40741602C>G	158	ADSL	Uncertain significance	-1	RCV002030322;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741602	40741602	C	G	40741602	-
NC_000022.10:g.40741608G>A	158	ADSL	Uncertain significance	-1	RCV002004239;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741608	40741608	G	A	40741608	-
NC_000022.10:g.40741617_40741618del	158	ADSL	Benign	-1	RCV001523323;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741617	40741618	CTA	C	40741616	-
NC_000022.10:g.40741623_40741626del	158	ADSL	Uncertain significance	-1	RCV002047241;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741623	40741626	CTATT	C	40741622	-
NC_000022.10:g.40741628A>C	158	ADSL	Uncertain significance	-1	RCV002006207;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741628	40741628	A	C	40741628	-
NC_000022.10:g.40741635T>C	158	ADSL	Uncertain significance	-1	RCV001996201;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741635	40741635	T	C	40741635	-
NC_000022.10:g.40741637_40741638insT	158	ADSL	Uncertain significance	-1	RCV002013646;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741637	40741638	A	AT	40741637	-
NC_000022.10:g.40741638_40741641del	158	ADSL	Uncertain significance	-1	RCV002050710;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741638	40741641	ATTCT	A	40741637	-
NC_000022.10:g.40741638T>C	158	ADSL	Uncertain significance	-1	RCV002016755;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741638	40741638	T	C	40741638	-
NC_000022.10:g.40741639T>C	158	ADSL	Uncertain significance	-1	RCV001949103;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741639	40741639	T	C	40741639	-
NC_000022.10:g.40741640C>T	158	ADSL	Benign	-1	RCV001522299;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741640	40741640	C	T	40741640	-
NC_000022.10:g.40741643T>C	158	ADSL	Uncertain significance	-1	RCV001894373;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741643	40741643	T	C	40741643	-
NC_000022.10:g.40741645_40741646insT	158	ADSL	Uncertain significance	-1	RCV002042531;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741645	40741646	A	AT	40741645	-
NC_000022.10:g.40741647T>C	158	ADSL	Uncertain significance	-1	RCV002019323;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741647	40741647	T	C	40741647	-
NC_000022.10:g.40741665C>T	158	ADSL	Uncertain significance	-1	RCV002002658;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741665	40741665	C	T	40741665	-
NC_000022.10:g.40741673C>T	158	ADSL	Uncertain significance	-1	RCV001878450;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741673	40741673	C	T	40741673	-
NC_000022.10:g.40741680G>A	158	ADSL	Uncertain significance	-1	RCV001864202;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741680	40741680	G	A	40741680	-
NC_000022.10:g.40741687T>G	158	ADSL	Uncertain significance	-1	RCV001918146;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741687	40741687	T	G	40741687	-
NC_000022.10:g.40741690A>G	158	ADSL	Uncertain significance	-1	RCV002017739;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741690	40741690	A	G	40741690	-
NC_000022.10:g.40741698G>A	158	ADSL	Uncertain significance	-1	RCV002014338;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741698	40741698	G	A	40741698	-
NC_000022.10:g.40741701C>T	158	ADSL	Uncertain significance	-1	RCV001947449;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741701	40741701	C	T	40741701	-
NC_000022.10:g.40741702del	158	ADSL	Uncertain significance	-1	RCV001964450;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741702	40741702	CT	C	40741701	-
NC_000022.10:g.40741709A>T	158	ADSL	Uncertain significance	-1	RCV001913254;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741709	40741709	A	T	40741709	-
NC_000022.10:g.40741713C>A	158	ADSL	Uncertain significance	-1	RCV001979799;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741713	40741713	C	A	40741713	-
NC_000022.10:g.40741720C>T	158	ADSL	Uncertain significance	-1	RCV001975798;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741720	40741720	C	T	40741720	-
NC_000022.10:g.40741746T>A	158	ADSL	Uncertain significance	-1	RCV001970795;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741746	40741746	T	A	40741746	-
NC_000022.10:g.40741768G>A	158	ADSL	Uncertain significance	-1	RCV002023854;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741768	40741768	G	A	40741768	-
NC_000022.10:g.40741774A>G	158	ADSL	Uncertain significance	-1	RCV001894164;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741774	40741774	A	G	40741774	-
NC_000022.10:g.40741801_40741802insT	158	ADSL	Uncertain significance	-1	RCV002035137;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741801	40741802	A	AT	40741801	-
NC_000022.10:g.40741809T>C	158	ADSL	Uncertain significance	-1	RCV001976238;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741809	40741809	T	C	40741809	-
NC_000022.10:g.40741821G>C	158	ADSL	Benign	-1	RCV001512252;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741821	40741821	G	C	40741821	-
NC_000022.10:g.40741824del	158	ADSL	Uncertain significance	-1	RCV001870749;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741824	40741824	CA	C	40741823	-
NC_000022.10:g.40741834G>C	158	ADSL	Uncertain significance	-1	RCV001875498;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741834	40741834	G	C	40741834	-
NC_000022.10:g.40741859C>G	158	ADSL	Uncertain significance	-1	RCV002047653;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741859	40741859	C	G	40741859	-
NC_000022.10:g.40741877G>C	158	ADSL	Uncertain significance	-1	RCV002011403;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741877	40741877	G	C	40741877	-
NC_000022.10:g.40741889C>G	158	ADSL	Uncertain significance	-1	RCV001931141;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741889	40741889	C	G	40741889	-
NC_000022.10:g.40741891C>T	158	ADSL	Uncertain significance	-1	RCV001373493;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741891	40741891	C	T	40741891	-
NC_000022.10:g.40741893C>T	158	ADSL	Benign	-1	RCV002124697;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741893	40741893	C	T	40741893	-
NC_000022.10:g.40741909C>T	158	ADSL	Uncertain significance	-1	RCV002022998;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741909	40741909	C	T	40741909	-
NC_000022.10:g.40741923C>T	158	ADSL	Uncertain significance	-1	RCV002019368;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741923	40741923	C	T	40741923	-
NC_000022.10:g.40741931G>A	158	ADSL	Uncertain significance	-1	RCV002001120;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741931	40741931	G	A	40741931	-
NC_000022.10:g.40741935A>G	158	ADSL	Uncertain significance	-1	RCV001867461;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741935	40741935	A	G	40741935	-
NC_000022.10:g.40741937T>C	158	ADSL	Uncertain significance	-1	RCV001913349;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741937	40741937	T	C	40741937	-
NC_000022.10:g.40741938G>A	158	ADSL	Uncertain significance	-1	RCV001373666;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741938	40741938	G	A	40741938	-
NC_000022.10:g.40741956G>T	158	ADSL	Uncertain significance	-1	RCV002019479;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741956	40741956	G	T	40741956	-
NC_000022.10:g.40741962C>T	158	ADSL	Uncertain significance	-1	RCV002049971;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741962	40741962	C	T	40741962	-
NC_000022.10:g.40741972C>G	158	ADSL	Uncertain significance	-1	RCV001874608;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741972	40741972	C	G	40741972	-
NC_000022.10:g.40741973_40741974del	158	ADSL	Uncertain significance	-1	RCV001994451;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741973	40741974	CTT	C	40741972	-
NC_000022.10:g.40741975C>T	158	ADSL	Uncertain significance	-1	RCV001958142;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741975	40741975	C	T	40741975	-
NC_000022.10:g.40741976A>G	158	ADSL	Uncertain significance	-1	RCV001925013;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741976	40741976	A	G	40741976	-
NC_000022.10:g.40741992G>C	158	ADSL	Benign	-1	RCV002087883;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741992	40741992	G	C	40741992	-
NC_000022.10:g.40741997C>T	158	ADSL	Uncertain significance	-1	RCV002050292;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741997	40741997	C	T	40741997	-
NC_000022.10:g.40741998G>C	158	ADSL	Uncertain significance	-1	RCV001866379;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40741998	40741998	G	C	40741998	-
NC_000022.10:g.40742001G>A	158	ADSL	Uncertain significance	-1	RCV002014349;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742001	40742001	G	A	40742001	-
NC_000022.10:g.40742003G>C	158	ADSL	Uncertain significance	-1	RCV002017383;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742003	40742003	G	C	40742003	-
NC_000022.10:g.40742008G>A	158	ADSL	Uncertain significance	-1	RCV001957502;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742008	40742008	G	A	40742008	-
NC_000022.10:g.40742020G>A	158	ADSL	Uncertain significance	-1	RCV001920279;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742020	40742020	G	A	40742020	-
NC_000022.10:g.40742023G>A	158	ADSL	Uncertain significance	-1	RCV002035990;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742023	40742023	G	A	40742023	-
NC_000022.10:g.40742026C>A	158	ADSL	Uncertain significance	-1	RCV002051028;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742026	40742026	C	A	40742026	-
NC_000022.10:g.40742036_40742037del	158	ADSL	Uncertain significance	-1	RCV001983791;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742036	40742037	TAA	T	40742035	-
NC_000022.10:g.40742041_40742042insA	158	ADSL	Uncertain significance	-1	RCV002001696;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742041	40742042	T	TA	40742041	-
NC_000022.10:g.40742053T>C	158	ADSL	Uncertain significance	-1	RCV001899822;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742053	40742053	T	C	40742053	-
NC_000022.10:g.40742062C>A	158	ADSL	Uncertain significance	-1	RCV001873980;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742062	40742062	C	A	40742062	-
NC_000022.10:g.40742062C>T	158	ADSL	Benign	-1	RCV002194677;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742062	40742062	C	T	40742062	-
NC_000022.10:g.40742064T>C	158	ADSL	Uncertain significance	rs998527385	RCV001352625;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742064	40742064	T	C	40742064	-
NC_000022.10:g.40742067C>T	158	ADSL	Uncertain significance	-1	RCV001943065;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742067	40742067	C	T	40742067	-
NC_000022.10:g.40742069_40742071del	158	ADSL	Uncertain significance	-1	RCV002013105;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742069	40742071	AAGT	A	40742068	-
NC_000022.10:g.40742093C>T	158	ADSL	Uncertain significance	-1	RCV001954074;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742093	40742093	C	T	40742093	-
NC_000022.10:g.40742108C>G	158	ADSL	Uncertain significance	-1	RCV001905632;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742108	40742108	C	G	40742108	-
NC_000022.10:g.40742120C>A	158	ADSL	Uncertain significance	-1	RCV001971806;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742120	40742120	C	A	40742120	-
NC_000022.10:g.40742145T>A	158	ADSL	Uncertain significance	-1	RCV001954637;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742145	40742145	T	A	40742145	-
NC_000022.10:g.40742147T>C	158	ADSL	Uncertain significance	-1	RCV001984702;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742147	40742147	T	C	40742147	-
NC_000022.10:g.40742162C>T	158	ADSL	Uncertain significance	-1	RCV001979427;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742162	40742162	C	T	40742162	-
NC_000022.10:g.40742162del	158	ADSL	Uncertain significance	-1	RCV001985180;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742162	40742162	AC	A	40742161	-
NC_000022.10:g.40742169G>T	158	ADSL	Uncertain significance	-1	RCV002008120;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742169	40742169	G	T	40742169	-
NC_000022.10:g.40742171C>T	158	ADSL	Likely benign	-1	RCV002182427;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742171	40742171	C	T	40742171	-
NC_000022.10:g.40742192G>C	158	ADSL	Uncertain significance	-1	RCV001894131;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742192	40742192	G	C	40742192	-
NC_000022.10:g.40742193T>G	158	ADSL	Uncertain significance	-1	RCV001908478;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742193	40742193	T	G	40742193	-
NC_000022.10:g.40742232C>G	158	ADSL	Uncertain significance	-1	RCV001971678;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742232	40742232	C	G	40742232	-
NC_000022.10:g.40742234C>G	158	ADSL	Uncertain significance	-1	RCV001983328;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742234	40742234	C	G	40742234	-
NC_000022.10:g.40742244T>C	158	ADSL	Uncertain significance	-1	RCV001959424;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742244	40742244	T	C	40742244	-
NC_000022.10:g.40742251A>G	158	ADSL	Uncertain significance	-1	RCV001910393;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742251	40742251	A	G	40742251	-
NC_000022.10:g.40742257G>A	158	ADSL	Likely benign	-1	RCV002074669;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742257	40742257	G	A	40742257	-
NC_000022.10:g.40742273G>A	158	ADSL	Uncertain significance	-1	RCV001955209;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742273	40742273	G	A	40742273	-
NC_000022.10:g.40742280G>A	158	ADSL	Uncertain significance	-1	RCV001915551;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742280	40742280	G	A	40742280	-
NC_000022.10:g.40742284T>A	158	ADSL	Uncertain significance	-1	RCV002027383;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742284	40742284	T	A	40742284	-
NC_000022.10:g.40742293A>G	158	ADSL	Uncertain significance	-1	RCV001910234;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742293	40742293	A	G	40742293	-
NC_000022.10:g.40742309G>A	158	ADSL	Uncertain significance	-1	RCV001927523;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742309	40742309	G	A	40742309	-
NC_000022.10:g.40742317A>C	158	ADSL	Uncertain significance	-1	RCV001990611;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742317	40742317	A	C	40742317	-
NC_000022.10:g.40742327C>A	158	ADSL	Uncertain significance	-1	RCV001918883;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742327	40742327	C	A	40742327	-
NC_000022.10:g.40742328G>A	158	ADSL	Uncertain significance	-1	RCV001903330;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742328	40742328	G	A	40742328	-
NC_000022.10:g.40742333A>C	158	ADSL	Uncertain significance	-1	RCV001928900;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742333	40742333	A	C	40742333	-
NC_000022.10:g.40742343G>A	158	ADSL	Uncertain significance	-1	RCV001867577;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742343	40742343	G	A	40742343	-
NC_000022.10:g.40742357G>A	158	ADSL	Uncertain significance	-1	RCV002005113;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742357	40742357	G	A	40742357	-
NC_000022.10:g.40742361C>A	158	ADSL	Uncertain significance	-1	RCV002037107;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742361	40742361	C	A	40742361	-
NC_000022.10:g.40742362T>C	158	ADSL	Uncertain significance	-1	RCV001894169;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742362	40742362	T	C	40742362	-
NC_000022.10:g.40742364G>A	158	ADSL	Uncertain significance	-1	RCV001919554;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742364	40742364	G	A	40742364	-
NC_000022.10:g.40742375G>C	158	ADSL	Uncertain significance	-1	RCV001992719;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742375	40742375	G	C	40742375	-
NC_000022.10:g.40742375G>T	158	ADSL	Uncertain significance	-1	RCV002005948;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742375	40742375	G	T	40742375	-
NC_000022.10:g.40742378C>G	158	ADSL	Uncertain significance	-1	RCV002011504;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742378	40742378	C	G	40742378	-
NC_000022.10:g.40742381A>C	158	ADSL	Uncertain significance	-1	RCV001953233;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742381	40742381	A	C	40742381	-
NC_000022.10:g.40742381A>T	158	ADSL	Uncertain significance	-1	RCV002019828;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742381	40742381	A	T	40742381	-
NC_000022.10:g.40742385A>C	158	ADSL	Uncertain significance	-1	RCV001886299;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742385	40742385	A	C	40742385	-
NC_000022.10:g.40742390T>A	158	ADSL	Uncertain significance	-1	RCV001949043;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742390	40742390	T	A	40742390	-
NC_000022.10:g.40742404C>A	158	ADSL	Uncertain significance	-1	RCV001923961;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742404	40742404	C	A	40742404	-
NC_000022.10:g.40742405G>T	158	ADSL	Uncertain significance	-1	RCV002024310;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742405	40742405	G	T	40742405	-
NC_000022.10:g.40742406G>C	158	ADSL	Uncertain significance	-1	RCV001953140;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742406	40742406	G	C	40742406	-
NC_000022.10:g.40742406G>A	158	ADSL	Uncertain significance	-1	RCV001943686;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742406	40742406	G	A	40742406	-
NC_000022.10:g.40742412C>A	158	ADSL	Uncertain significance	-1	RCV001923948;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742412	40742412	C	A	40742412	-
NC_000022.10:g.40742413T>C	158	ADSL	Uncertain significance	-1	RCV001876371;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742413	40742413	T	C	40742413	-
NC_000022.10:g.40742416G>C	158	ADSL	Uncertain significance	-1	RCV001955323;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742416	40742416	G	C	40742416	-
NC_000022.11:g.40346413C>T	158	ADSL	Benign	rs909669	RCV000829785\|RCV001517151;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742417	40742417	C	T	22:g.40742417C>T	-
NC_000022.10:g.40742421C>T	158	ADSL	Uncertain significance	-1	RCV001920729;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742421	40742421	C	T	40742421	-
NC_000022.10:g.40742422G>C	158	ADSL	Uncertain significance	-1	RCV001939722;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742422	40742422	G	C	40742422	-
NC_000022.10:g.40742426G>C	158	ADSL	Uncertain significance	-1	RCV001974105;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742426	40742426	G	C	40742426	-
NC_000022.10:g.40742428G>A	158	ADSL	Uncertain significance	-1	RCV002020243;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742428	40742428	G	A	40742428	-
NC_000022.10:g.40742431C>G	158	ADSL	Uncertain significance	-1	RCV001969717;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742431	40742431	C	G	40742431	-
NC_000022.10:g.40742436C>A	158	ADSL	Uncertain significance	-1	RCV002043713;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742436	40742436	C	A	40742436	-
NC_000022.10:g.40742436C>G	158	ADSL	Uncertain significance	-1	RCV001900239;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742436	40742436	C	G	40742436	-
NC_000022.10:g.40742436C>T	158	ADSL	Likely benign	-1	RCV002105032;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742436	40742436	C	T	40742436	-
NC_000022.10:g.40742437G>A	158	ADSL	Uncertain significance	-1	RCV001902221;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742437	40742437	G	A	40742437	-
NC_000022.10:g.40742442G>C	158	ADSL	Uncertain significance	-1	RCV002028864;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742442	40742442	G	C	40742442	-
NC_000022.10:g.40742447C>G	158	ADSL	Uncertain significance	-1	RCV001922773;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742447	40742447	C	G	40742447	-
NC_000022.10:g.40742453G>C	158	ADSL	Uncertain significance	-1	RCV002051327;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742453	40742453	G	C	40742453	-
NC_000022.10:g.40742460C>G	158	ADSL	Uncertain significance	-1	RCV001955426;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742460	40742460	C	G	40742460	-
NC_000022.10:g.40742460C>A	158	ADSL	Uncertain significance	-1	RCV001938068;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742460	40742460	C	A	40742460	-
NC_000022.10:g.40742473_40742474insCCCGC	158	ADSL	Benign	-1	RCV002114507;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742473	40742474	T	TCCCGC	40742473	-
NC_000022.10:g.40742478C>A	158	ADSL	Uncertain significance	-1	RCV001932915;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742478	40742478	C	A	40742478	-
NC_000022.10:g.40742481_40742482insGCCCCGTCCT	158	ADSL	Uncertain significance	-1	RCV001933546;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742481	40742482	C	CGCCCCGTCCT	40742481	-
NC_000022.10:g.40742482G>C	158	ADSL	Uncertain significance	-1	RCV001879033;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742482	40742482	G	C	40742482	-
NC_000022.10:g.40742487_40742496del	158	ADSL	Uncertain significance	-1	RCV001897792;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742487	40742496	CGTCCTGCCCT	C	40742486	-
NC_000022.10:g.40742487G>A	158	ADSL	Uncertain significance	-1	RCV001963612;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742487	40742487	G	A	40742487	-
NC_000022.10:g.40742492G>A	158	ADSL	Uncertain significance	-1	RCV002042069;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742492	40742492	G	A	40742492	-
NC_000022.10:g.40742493C>G	158	ADSL	Uncertain significance	-1	RCV001972934;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742493	40742493	C	G	40742493	-
NC_000022.10:g.40742493C>T	158	ADSL	Uncertain significance	-1	RCV001863574;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742493	40742493	C	T	40742493	-
NC_000022.10:g.40742497G>A	158	ADSL	Uncertain significance	-1	RCV001892467;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742497	40742497	G	A	40742497	-
NC_000022.11:g.40346495C>A	158	ADSL	Uncertain significance	rs576843830	RCV001146692;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742499	40742499	C	A	22:g.40742499C>A	-
NM_000026.4(ADSL):c.-56T>A	158	ADSL	Uncertain significance	-1	RCV001913565;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742507	40742507	T	A	40742507	-
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	na	na		-	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	na	na	-1	-
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	na	na	-1	-
NM_000026.4(ADSL):c.-49T>C	158	ADSL	Likely pathogenic	rs1272053459	RCV001266879\|RCV002221270;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742514	40742514	T	C	22:g.40742514T>C	OMIM:608222.0007
NC_000022.10:g.(?_40742514)_(40762526_?)del	158	ADSL	Pathogenic	-1	RCV001380702;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742514	40762526	na	na	-1	-
NM_000026.4(ADSL):c.-44C>G	158	ADSL	Uncertain significance	-1	RCV001911814;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742519	40742519	C	G	40742519	-
NM_000026.4(ADSL):c.-37C>G	158	ADSL	Conflicting interpretations of pathogenicity	rs372357778	RCV000425428\|RCV001861602;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742526	40742526	C	G	22:g.40742526C>G	ClinGen:CA10247561	CN169374 not specified;
NM_000026.4(ADSL):c.-35G>T	158	ADSL	Uncertain significance	rs750649096	RCV000277016;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742528	40742528	G	T	NC_000022.10:g.40742528G>T	ClinGen:CA10247562	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.-35G>C	158	ADSL	Uncertain significance	-1	RCV001911041;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742528	40742528	G	C	40742528	-
NM_000026.4(ADSL):c.-32C>T	158	ADSL	Uncertain significance	-1	RCV002017170;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742531	40742531	C	T	40742531	-
NM_000026.4(ADSL):c.-31C>T	158	ADSL	Uncertain significance	-1	RCV001986150;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742532	40742532	C	T	40742532	-
NM_000026.4(ADSL):c.-29G>C	158	ADSL	Uncertain significance	rs2044143205	RCV001146693;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742534	40742534	G	C	22:g.40742534G>C	-
NM_000026.4(ADSL):c.-27C>A	158	ADSL	Uncertain significance	-1	RCV001911033;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742536	40742536	C	A	40742536	-
NM_000026.4(ADSL):c.-23C>T	158	ADSL	Benign	-1	RCV002178175;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742540	40742540	C	T	40742540	-
NM_000026.4(ADSL):c.-20G>T	158	ADSL	Uncertain significance	-1	RCV001947971;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742543	40742543	G	T	40742543	-
NM_000026.4(ADSL):c.-18C>A	158	ADSL	Uncertain significance	-1	RCV001981766;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742545	40742545	C	A	40742545	-
NM_000026.4(ADSL):c.-12C>T	158	ADSL	Uncertain significance	rs775388314	RCV001323269;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742551	40742551	C	T	40742551	-
NM_000026.4(ADSL):c.-11G>T	158	ADSL	Uncertain significance	-1	RCV002021896;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742552	40742552	G	T	40742552	-
NM_000026.4(ADSL):c.5C>T (p.Ala2Val)	158	ADSL	Conflicting interpretations of pathogenicity	rs143083947	RCV000186704\|RCV001363283;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742567	40742567	C	T	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	-1	RCV001920953;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742569	40742569	G	A	40742569	-
NM_000026.4(ADSL):c.8C>G (p.Ala3Gly)	158	ADSL	Uncertain significance	rs2044145822	RCV001060867;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742570	40742570	C	G	22:g.40742570C>G	-
NM_000026.4(ADSL):c.9T>C (p.Ala3=)	158	ADSL	Likely benign	rs758676257	RCV000605501\|RCV001448851;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742571	40742571	T	C	22:g.40742571T>C	ClinGen:CA10247577	CN169374 not specified;
NM_000026.4(ADSL):c.10G>A (p.Gly4Arg)	158	ADSL	Uncertain significance	-1	RCV002045005;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742572	40742572	G	A	40742572	-
NM_000026.4(ADSL):c.11G>T (p.Gly4Val)	158	ADSL	Uncertain significance	rs766546584	RCV000728371\|RCV001363640;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742573	40742573	G	T	NC_000022.10:g.40742573G>T	-
NM_000026.4(ADSL):c.11G>C (p.Gly4Ala)	158	ADSL	Uncertain significance	-1	RCV002038035;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742573	40742573	G	C	40742573	-
NM_000026.4(ADSL):c.15C>T (p.Gly5=)	158	ADSL	Uncertain significance	rs751781160	RCV001046467;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742577	40742577	C	T	22:g.40742577C>T	-
NM_000026.4(ADSL):c.15C>A (p.Gly5=)	158	ADSL	Likely benign	-1	RCV002075513;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742577	40742577	C	A	40742577	-
NM_000026.4(ADSL):c.16G>C (p.Asp6His)	158	ADSL	Uncertain significance	rs140064577	RCV000327088\|RCV000551429;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742578	40742578	G	C	22:g.40742578G>C	ClinGen:CA10247581	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.17A>T (p.Asp6Val)	158	ADSL	Uncertain significance	rs1314470860	RCV001338365;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742579	40742579	A	T	40742579	-
NM_000026.4(ADSL):c.19C>G (p.His7Asp)	158	ADSL	Uncertain significance	-1	RCV001898042;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742581	40742581	C	G	40742581	-
NM_000026.4(ADSL):c.20A>G (p.His7Arg)	158	ADSL	Uncertain significance	rs377248090	RCV000436772\|RCV001202411;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742582	40742582	A	G	NC_000022.10:g.40742582A>G	ClinGen:CA10247585
NM_000026.4(ADSL):c.27G>T (p.Ser9=)	158	ADSL	Benign/Likely benign	rs146873132	RCV000123549\|RCV000868944;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742589	40742589	G	T	22:g.40742589G>T	ClinGen:CA289318	CN169374 not specified;
NM_000026.4(ADSL):c.28C>G (p.Pro10Ala)	158	ADSL	Uncertain significance	-1	RCV002006925;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742590	40742590	C	G	40742590	-
NM_000026.4(ADSL):c.31G>C (p.Asp11His)	158	ADSL	Uncertain significance	-1	RCV002022422;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742593	40742593	G	C	40742593	-
NM_000026.4(ADSL):c.32A>T (p.Asp11Val)	158	ADSL	Uncertain significance	rs368501116	RCV000439143\|RCV001044398;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742594	40742594	A	T	NC_000022.10:g.40742594A>T	ClinGen:CA10247591
NM_000026.4(ADSL):c.36C>A (p.Ser12Arg)	158	ADSL	Uncertain significance	rs773098808	RCV000697335;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742598	40742598	C	A	NC_000022.10:g.40742598C>A	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.40C>T (p.Arg14Cys)	158	ADSL	Uncertain significance	rs766465184	RCV000727459\|RCV001228393;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742602	40742602	C	T	NC_000022.10:g.40742602C>T	ClinGen:CA313132
NM_000026.4(ADSL):c.41G>T (p.Arg14Leu)	158	ADSL	Uncertain significance	rs371824098	RCV000812500;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742603	40742603	G	T	22:g.40742603G>T	-
NM_000026.4(ADSL):c.46C>T (p.Pro16Ser)	158	ADSL	Uncertain significance	-1	RCV001365148;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742608	40742608	C	T	40742608	-
NM_000026.4(ADSL):c.47C>T (p.Pro16Leu)	158	ADSL	Uncertain significance	rs541051390	RCV001317495;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742609	40742609	C	T	40742609	-
NM_000026.4(ADSL):c.49C>T (p.Leu17Phe)	158	ADSL	Uncertain significance	rs1262658484	RCV001238846;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742611	40742611	C	T	22:g.40742611C>T	-
NM_000026.4(ADSL):c.51T>A (p.Leu17=)	158	ADSL	Uncertain significance	-1	RCV001912736;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742613	40742613	T	A	40742613	-
NM_000026.4(ADSL):c.71C>T (p.Pro24Leu)	158	ADSL	Uncertain significance	rs1257907226	RCV000634534;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742633	40742633	C	T	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	rs1279175740	RCV000526907\|RCV001441240;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742634	40742634	G	A	NC_000022.10:g.40742634G>A	ClinGen:CA514611941	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.78G>A (p.Met26Ile)	158	ADSL	Uncertain significance	-1	RCV001918325;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742640	40742640	G	A	40742640	-
NM_000026.4(ADSL):c.100T>C (p.Tyr34His)	158	ADSL	Uncertain significance	rs1434292876	RCV001325958;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742662	40742662	T	C	40742662	-
NM_000026.4(ADSL):c.114A>G (p.Thr38=)	158	ADSL	Likely benign	rs377588571	RCV000440282\|RCV000864978\|RCV001505307;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742676	40742676	A	G	22:g.40742676A>G	ClinGen:CA10247607	CN169374 not specified;
NM_000026.4(ADSL):c.124C>T (p.Leu42=)	158	ADSL	Benign	rs2228415	RCV000116237\|RCV000226786;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742686	40742686	C	T	22:g.40742686C>T	ClinGen:CA288666	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.129G>C (p.Trp43Cys)	158	ADSL	Uncertain significance	-1	RCV002034225;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742691	40742691	G	C	40742691	-
NM_000026.4(ADSL):c.135G>A (p.Trp45Ter)	158	ADSL	Pathogenic	rs774435749	RCV001220597;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742697	40742697	G	A	22:g.40742697G>A	-
NM_000026.4(ADSL):c.140C>T (p.Ala47Val)	158	ADSL	Uncertain significance	rs759704594	RCV001225588;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742702	40742702	C	T	22:g.40742702C>T	-
NM_000026.4(ADSL):c.146C>T (p.Ala49Val)	158	ADSL	Uncertain significance	-1	RCV001917527;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742708	40742708	C	T	40742708	-
NM_000026.4(ADSL):c.151C>T (p.Gln51Ter)	158	ADSL	Pathogenic	-1	RCV001956156;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742713	40742713	C	T	40742713	-
NM_000026.4(ADSL):c.153G>A (p.Gln51=)	158	ADSL	Uncertain significance	rs1214023402	RCV001223265;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742715	40742715	G	A	22:g.40742715G>A	-
NM_000026.4(ADSL):c.153+7G>A	158	ADSL	Likely benign	rs376477242	RCV000443684\|RCV002060063;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742722	40742722	G	A	22:g.40742722G>A	ClinGen:CA10247618	CN169374 not specified;
NM_000026.4(ADSL):c.153+10C>A	158	ADSL	Likely benign	-1	RCV002135010;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742725	40742725	C	A	40742725	-
NM_000026.4(ADSL):c.153+12C>T	158	ADSL	Likely benign	-1	RCV002149725;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742727	40742727	C	T	40742727	-
NM_000026.4(ADSL):c.153+17T>C	158	ADSL	Likely benign	-1	RCV002108168;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742732	40742732	T	C	40742732	-
NM_000026.4(ADSL):c.153+19A>G	158	ADSL	Likely benign	-1	RCV002111830;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40742734	40742734	A	G	40742734	-
NM_000026.4(ADSL):c.154-9A>G	158	ADSL	Likely benign	rs762257005	RCV000879521;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745827	40745827	A	G	22:g.40745827A>G	-
NM_000026.4(ADSL):c.154-7del	158	ADSL	Uncertain significance	rs1452778583	RCV000534398;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745828	40745828	AT	A	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	rs1380095056	RCV000692090;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745837	40745837	C	A	22:g.40745837C>A	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.161G>A (p.Gly54Asp)	158	ADSL	Uncertain significance	rs765813625	RCV001061282;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745843	40745843	G	A	22:g.40745843G>A	-
NM_000026.4(ADSL):c.173C>G (p.Thr58Arg)	158	ADSL	Uncertain significance	-1	RCV001968996;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745855	40745855	C	G	40745855	-
NM_000026.4(ADSL):c.183A>C (p.Gln61His)	158	ADSL	Uncertain significance	rs1601551862	RCV000798632;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745865	40745865	A	C	22:g.40745865A>C	-
NM_000026.4(ADSL):c.187del (p.Gln63fs)	158	ADSL	Pathogenic	-1	RCV001923611;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745868	40745868	TC	T	40745867	-
NM_000026.4(ADSL):c.205C>G (p.Leu69Val)	158	ADSL	Uncertain significance	rs200169254	RCV000804581;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745887	40745887	C	G	22:g.40745887C>G	-
NM_000026.4(ADSL):c.216C>T (p.Ile72=)	158	ADSL	Benign	rs145786986	RCV000175509\|RCV000229565;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745898	40745898	C	T	22:g.40745898C>T	ClinGen:CA302794	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.216C>G (p.Ile72Met)	158	ADSL	Uncertain significance	-1	RCV001870821;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745898	40745898	C	G	40745898	-
NM_000026.4(ADSL):c.224A>G (p.Lys75Arg)	158	ADSL	Uncertain significance	-1	RCV001997416;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745906	40745906	A	G	40745906	-
NM_000026.4(ADSL):c.226A>C (p.Met76Leu)	158	ADSL	Uncertain significance	rs145306334	RCV001318656;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745908	40745908	A	C	40745908	-
NM_000026.4(ADSL):c.244A>C (p.Lys82Gln)	158	ADSL	Uncertain significance	-1	RCV002003989;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745926	40745926	A	C	40745926	-
NM_000026.4(ADSL):c.245A>G (p.Lys82Arg)	158	ADSL	Uncertain significance	-1	RCV001892871;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745927	40745927	A	G	40745927	-
NM_000026.4(ADSL):c.247C>T (p.Arg83Cys)	158	ADSL	Uncertain significance	rs780425464	RCV000527728\|RCV000723817;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40745929	40745929	C	T	NC_000022.10:g.40745929C>T	ClinGen:CA241261
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)	158	ADSL	Pathogenic/Likely pathogenic	rs1036185928	RCV000434653\|RCV000679862;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745935	40745935	C	T	22:g.40745935C>T	ClinGen:CA16608180	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.255A>G (p.Arg85=)	158	ADSL	Likely benign	-1	RCV002142201;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745937	40745937	A	G	40745937	-
NM_000026.4(ADSL):c.257A>G (p.His86Arg)	158	ADSL	Uncertain significance	rs2044280567	RCV001224951;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745939	40745939	A	G	22:g.40745939A>G	-
NM_000026.4(ADSL):c.258T>G (p.His86Gln)	158	ADSL	Uncertain significance	rs1327764464	RCV001312757;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745940	40745940	T	G	40745940	-
NM_000026.4(ADSL):c.262G>T (p.Val88Leu)	158	ADSL	Uncertain significance	-1	RCV001367571;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745944	40745944	G	T	40745944	-
NM_000026.4(ADSL):c.263T>C (p.Val88Ala)	158	ADSL	Uncertain significance	rs149165656	RCV000186702\|RCV001207291;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745945	40745945	T	C	NC_000022.10:g.40745945T>C	ClinGen:CA313129
NM_000026.4(ADSL):c.268G>A (p.Ala90Thr)	158	ADSL	Pathogenic	rs1601552154	RCV000995690;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745950	40745950	G	A	22:g.40745950G>A	-
NM_000026.4(ADSL):c.270T>C (p.Ala90=)	158	ADSL	Conflicting interpretations of pathogenicity	rs143275316	RCV000253583\|RCV000731094\|RCV001088635;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745952	40745952	T	C	22:g.40745952T>C	ClinGen:CA10247657	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.271C>T (p.His91Tyr)	158	ADSL	Uncertain significance	rs755518176	RCV000419456\|RCV000764386;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745953	40745953	C	T	NC_000022.10:g.40745953C>T	ClinGen:CA10247658
NM_000026.4(ADSL):c.271C>G (p.His91Asp)	158	ADSL	Uncertain significance	rs755518176	RCV001244507;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745953	40745953	C	G	22:g.40745953C>G	-
NM_000026.4(ADSL):c.273C>T (p.His91=)	158	ADSL	Likely benign	rs148303726	RCV000862323;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745955	40745955	C	T	22:g.40745955C>T	-
NM_000026.4(ADSL):c.274G>T (p.Val92Leu)	158	ADSL	Uncertain significance	-1	RCV001976019;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745956	40745956	G	T	40745956	-
NM_000026.4(ADSL):c.274G>A (p.Val92Met)	158	ADSL	Uncertain significance	-1	RCV001884986;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745956	40745956	G	A	40745956	-
NM_000026.4(ADSL):c.298C>G (p.Pro100Ala)	158	ADSL	Pathogenic	rs119450942	RCV000002567;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40745980	40745980	C	G	22:g.40745980C>G	ClinGen:CA115566,UniProtKB:P30566#VAR_017079,OMIM:608222.0003	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.319C>T (p.His107Tyr)	158	ADSL	Uncertain significance	-1	RCV001373726;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746001	40746001	C	T	40746001	-
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)	158	ADSL	Pathogenic	rs374259530	RCV000186703\|RCV000193076\|RCV000415212;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|Human Phenotype Ontology:HP:0002344,MedGen:C1854838; Human Phenotype Ontology:HP:0002540,MedGen:C0560046; Human Phenotype Ontology:HP:0003698,MedGen:C0241237; Human Phenotype Ontol	22	40746022	40746022	T	C	NC_000022.10:g.40746022T>C	ClinGen:CA206321,UniProtKB:P30566#VAR_017080
NM_000026.4(ADSL):c.341A>C (p.Tyr114Ser)	158	ADSL	Uncertain significance	-1	RCV001366584;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746023	40746023	A	C	40746023	-
NM_000026.4(ADSL):c.342T>C (p.Tyr114=)	158	ADSL	Likely benign	-1	RCV001460125;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746024	40746024	T	C	40746024	-
NM_000026.4(ADSL):c.347G>A (p.Gly116Glu)	158	ADSL	Uncertain significance	rs768596079	RCV001058729;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746029	40746029	G	A	22:g.40746029G>A	-
NM_000026.4(ADSL):c.357T>C (p.Thr119=)	158	ADSL	Uncertain significance	-1	RCV001871168;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746039	40746039	T	C	40746039	-
NM_000026.4(ADSL):c.357+1G>A	158	ADSL	Likely pathogenic	-1	RCV002017498;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746040	40746040	G	A	40746040	-
NM_000026.4(ADSL):c.357+4G>A	158	ADSL	Uncertain significance	rs1230823834	RCV001339567;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746043	40746043	G	A	40746043	-
NM_000026.4(ADSL):c.357+6C>T	158	ADSL	Conflicting interpretations of pathogenicity	rs181628906	RCV000123547\|RCV000289803\|RCV000710482;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40746045	40746045	C	T	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	rs199993991	RCV000123548\|RCV000347351\|RCV000726640;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40746046	40746046	G	A	22:g.40746046G>A	ClinGen:CA289317	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.357+7G>T	158	ADSL	Likely benign	-1	RCV001730224\|RCV002073416;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746046	40746046	G	T	40746046	-
NM_000026.4(ADSL):c.357+10T>G	158	ADSL	Likely benign	-1	RCV001922050;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40746049	40746049	T	G	40746049	-
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	na	na	-1	-
NM_000026.4(ADSL):c.358-5C>T	158	ADSL	Likely benign	rs769856337	RCV000442525\|RCV002062641;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749072	40749072	C	T	22:g.40749072C>T	ClinGen:CA10247687	CN169374 not specified;
NM_000026.4(ADSL):c.358-4G>A	158	ADSL	Benign	rs113199851	RCV000116238\|RCV000233479\|RCV000710483;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40749073	40749073	G	A	22:g.40749073G>A	ClinGen:CA288668	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.358-1G>C	158	ADSL	Likely pathogenic	-1	RCV001785896;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749076	40749076	G	C	40749076	-
NM_000026.4(ADSL):c.363G>A (p.Leu121=)	158	ADSL	Conflicting interpretations of pathogenicity	rs138203195	RCV000123552\|RCV000864071;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749082	40749082	G	A	22:g.40749082G>A	ClinGen:CA289320	CN169374 not specified;
NM_000026.4(ADSL):c.366T>G (p.Ile122Met)	158	ADSL	Uncertain significance	rs2044410316	RCV001228244;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749085	40749085	T	G	22:g.40749085T>G	-
NM_000026.4(ADSL):c.370C>A (p.Leu124Ile)	158	ADSL	Uncertain significance	rs2044410415	RCV001228245;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749089	40749089	C	A	22:g.40749089C>A	-
NM_000026.4(ADSL):c.377A>G (p.Asn126Ser)	158	ADSL	Uncertain significance	rs771267221	RCV000186707\|RCV001035904;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749096	40749096	A	G	NC_000022.10:g.40749096A>G	ClinGen:CA313136
NM_000026.4(ADSL):c.402+1G>T	158	ADSL	Likely pathogenic	rs761551284	RCV000810236;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749122	40749122	G	T	22:g.40749122G>T	-
NM_000026.4(ADSL):c.402+6G>A	158	ADSL	Uncertain significance	-1	RCV001948178;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749127	40749127	G	A	40749127	-
NM_000026.4(ADSL):c.402+18G>A	158	ADSL	Likely benign	-1	RCV002202860;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40749139	40749139	G	A	40749139	-
NM_000026.4(ADSL):c.403-7C>A	158	ADSL	Likely benign	rs1601565699	RCV000926331\|RCV001410890;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750245	40750245	C	A	22:g.40750245C>A	-
NM_000026.4(ADSL):c.403-7C>T	158	ADSL	Likely benign	-1	RCV002107028;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750245	40750245	C	T	40750245	-
NM_000026.4(ADSL):c.403-4G>A	158	ADSL	Conflicting interpretations of pathogenicity	rs373652667	RCV000227251\|RCV000428118\|RCV000710484;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN169374\|MedGen:CN517202	22	40750248	40750248	G	A	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	rs766286760	RCV001246622;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750249	40750249	T	C	22:g.40750249T>C	-
NM_000026.4(ADSL):c.407C>T (p.Ala136Val)	158	ADSL	Uncertain significance	rs1569091418	RCV000696779;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750256	40750256	C	T	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	rs368166273	RCV000596859\|RCV001476772;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750257	40750257	C	T	22:g.40750257C>T	ClinGen:CA10247718	CN169374 not specified;
NM_000026.4(ADSL):c.417C>T (p.Ile139=)	158	ADSL	Likely benign	-1	RCV002071105;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750266	40750266	C	T	40750266	-
NM_000026.4(ADSL):c.422G>C (p.Arg141Pro)	158	ADSL	Uncertain significance	rs563054392	RCV001300027;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750271	40750271	G	C	40750271	-
NM_000026.4(ADSL):c.429C>T (p.Ala143=)	158	ADSL	Likely benign	rs754065119	RCV000931902\|RCV001394484;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750278	40750278	C	T	22:g.40750278C>T	-
NM_000026.4(ADSL):c.430G>A (p.Asp144Asn)	158	ADSL	Uncertain significance	-1	RCV001919331;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750279	40750279	G	A	40750279	-
NM_000026.4(ADSL):c.435T>C (p.Phe145=)	158	ADSL	Likely benign	-1	RCV001453919;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750284	40750284	T	C	40750284	-
NM_000026.4(ADSL):c.438T>C (p.Ala146=)	158	ADSL	Likely benign	-1	RCV001459078;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750287	40750287	T	C	40750287	-
NM_000026.4(ADSL):c.439A>G (p.Lys147Glu)	158	ADSL	Conflicting interpretations of pathogenicity	rs746180694	RCV001330906;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750288	40750288	A	G	40750288	-
NM_000026.4(ADSL):c.440A>T (p.Lys147Met)	158	ADSL	Benign	rs11089991	RCV000116239\|RCV000284062\|RCV000441107;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40750289	40750289	A	T	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	rs747546394	RCV001220104;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750295	40750295	G	A	22:g.40750295G>A	-
NM_000026.4(ADSL):c.451A>G (p.Ser151Gly)	158	ADSL	Uncertain significance	rs147194356	RCV000799764;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750300	40750300	A	G	22:g.40750300A>G	-
NM_000026.4(ADSL):c.462A>G (p.Thr154=)	158	ADSL	Likely benign	-1	RCV002169316;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750311	40750311	A	G	40750311	-
NM_000026.4(ADSL):c.464T>C (p.Leu155Ser)	158	ADSL	Uncertain significance	rs2044467047	RCV001323574;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750313	40750313	T	C	40750313	-
NM_000026.4(ADSL):c.465A>G (p.Leu155=)	158	ADSL	Likely benign	rs139543370	RCV000930436\|RCV001442662;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750314	40750314	A	G	22:g.40750314A>G	-
NM_000026.4(ADSL):c.475C>T (p.His159Tyr)	158	ADSL	Uncertain significance	rs1310213333	RCV001207292;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750324	40750324	C	T	22:g.40750324C>T	-
NM_000026.4(ADSL):c.482A>G (p.Gln161Arg)	158	ADSL	Uncertain significance	rs8192457	RCV000186708\|RCV001308467;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750331	40750331	A	G	NC_000022.10:g.40750331A>G	ClinGen:CA313138
NM_000026.4(ADSL):c.482+8A>G	158	ADSL	Uncertain significance	rs886042606	RCV000356986\|RCV000459291;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750339	40750339	A	G	22:g.40750339A>G	ClinGen:CA10604469	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.482+9T>C	158	ADSL	Likely benign	-1	RCV001504050;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750340	40750340	T	C	40750340	-
NM_000026.4(ADSL):c.482+16A>C	158	ADSL	Likely benign	-1	RCV002118702;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40750347	40750347	A	C	40750347	-
NC_000022.11:g.(?_40358844)_(40366542_?)del	158	ADSL	Likely pathogenic	-1	RCV001031709;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754848	40762546	na	na	-1	-
NM_000026.4(ADSL):c.502G>A (p.Val168Ile)	158	ADSL	Uncertain significance	rs1385675650	RCV001330907\|RCV001509099;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40754887	40754887	G	A	40754887	-
NM_000026.4(ADSL):c.528T>C (p.Ile176=)	158	ADSL	Likely benign	-1	RCV001463128;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754913	40754913	T	C	40754913	-
NM_000026.4(ADSL):c.541A>T (p.Met181Leu)	158	ADSL	Uncertain significance	rs768542145	RCV000634532;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754926	40754926	A	T	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	rs768542145	RCV000700498;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754926	40754926	A	G	22:g.40754926A>G	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.550C>T (p.Gln184Ter)	158	ADSL	Pathogenic	rs1569096551	RCV000707388;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754935	40754935	C	T	22:g.40754935C>T	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.563G>A (p.Arg188His)	158	ADSL	Conflicting interpretations of pathogenicity	rs761937276	RCV000432475\|RCV000473273;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754948	40754948	G	A	NC_000022.10:g.40754948G>A	ClinGen:CA10247756
NM_000026.4(ADSL):c.567C>T (p.Val189=)	158	ADSL	Benign/Likely benign	rs765353500	RCV000439679\|RCV000867063;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754952	40754952	C	T	22:g.40754952C>T	ClinGen:CA10247757	CN169374 not specified;
NM_000026.4(ADSL):c.568C>T (p.Arg190Ter)	158	ADSL	Pathogenic	rs750614500	RCV000186710\|RCV000763484;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754953	40754953	C	T	22:g.40754953C>T	ClinGen:CA313142	CN517202 not provided;
NM_000026.4(ADSL):c.569G>A (p.Arg190Gln)	158	ADSL	Conflicting interpretations of pathogenicity	rs28941471	RCV000002569\|RCV000186674;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40754954	40754954	G	A	NC_000022.10:g.40754954G>A	OMIM:608222.0005,ClinGen:CA115568,UniProtKB:P30566#VAR_007974
NM_000026.4(ADSL):c.578T>C (p.Leu193Pro)	158	ADSL	Uncertain significance	rs2044667301	RCV001150920;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754963	40754963	T	C	22:g.40754963T>C	-
NM_000026.4(ADSL):c.579G>C (p.Leu193=)	158	ADSL	Conflicting interpretations of pathogenicity	rs751928831	RCV000349838\|RCV001150921;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754964	40754964	G	C	22:g.40754964G>C	ClinGen:CA10247759	CN169374 not specified;
NM_000026.4(ADSL):c.580C>T (p.Arg194Cys)	158	ADSL	Likely pathogenic	-1	RCV002010959;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754965	40754965	C	T	40754965	-
NM_000026.4(ADSL):c.581G>A (p.Arg194His)	158	ADSL	Conflicting interpretations of pathogenicity	rs755359802	RCV000634539\|RCV001269550;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40754966	40754966	G	A	22:g.40754966G>A	ClinGen:CA10247760	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.586C>T (p.Arg196Trp)	158	ADSL	Uncertain significance	rs376533106	RCV000704389;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754971	40754971	C	T	22:g.40754971C>T	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.587G>A (p.Arg196Gln)	158	ADSL	Uncertain significance	rs753245184	RCV000442215\|RCV001330908;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754972	40754972	G	A	NC_000022.10:g.40754972G>A	ClinGen:CA10247762
NM_000026.4(ADSL):c.590G>A (p.Gly197Glu)	158	ADSL	Uncertain significance	-1	RCV001888192;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754975	40754975	G	A	40754975	-
NM_000026.4(ADSL):c.608G>A (p.Gly203Asp)	158	ADSL	Uncertain significance	rs2044668344	RCV001055322;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754993	40754993	G	A	22:g.40754993G>A	-
NM_000026.4(ADSL):c.611C>G (p.Thr204Ser)	158	ADSL	Uncertain significance	rs745524617	RCV000804178;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754996	40754996	C	G	22:g.40754996C>G	-
NM_000026.4(ADSL):c.611C>T (p.Thr204Ile)	158	ADSL	Uncertain significance	-1	RCV001986185;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40754996	40754996	C	T	40754996	-
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser)	158	ADSL	Conflicting interpretations of pathogenicity	rs148411623	RCV000186675\|RCV000766357\|RCV001082607;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755001	40755001	G	T	NC_000022.10:g.40755001G>T	ClinGen:CA313090
NM_000026.4(ADSL):c.617C>G (p.Ala206Gly)	158	ADSL	Uncertain significance	rs746848060	RCV001336062;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755002	40755002	C	G	40755002	-
NM_000026.4(ADSL):c.623T>A (p.Phe208Tyr)	158	ADSL	Uncertain significance	rs776615568	RCV000824613;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755008	40755008	T	A	22:g.40755008T>A	-
NM_000026.4(ADSL):c.628C>T (p.Gln210Ter)	158	ADSL	Pathogenic	-1	RCV002037760;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755013	40755013	C	T	40755013	-
NM_000026.4(ADSL):c.632T>A (p.Leu211His)	158	ADSL	Uncertain significance	rs2044669605	RCV001237538;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755017	40755017	T	A	22:g.40755017T>A	-
NM_000026.4(ADSL):c.644A>G (p.Asp215Gly)	158	ADSL	Uncertain significance	-1	RCV001368288;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755029	40755029	A	G	40755029	-
NM_000026.4(ADSL):c.649C>G (p.His217Asp)	158	ADSL	Benign/Likely benign	rs199761158	RCV000186672\|RCV000230022\|RCV001080646;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755034	40755034	C	G	22:g.40755034C>G	ClinGen:CA245884	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.649C>T (p.His217Tyr)	158	ADSL	Uncertain significance	rs199761158	RCV000797767;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755034	40755034	C	T	22:g.40755034C>T	-
NM_000026.4(ADSL):c.655-42_655-8del	158	ADSL	Uncertain significance	-1	RCV002041321;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755220	40755254	ACTGGACACATGGATTATTATAAGGATGTGTCTTTT	A	40755219	-
NM_000026.4(ADSL):c.655-11T>G	158	ADSL	Likely benign	-1	RCV002185599;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755253	40755253	T	G	40755253	-
NM_000026.4(ADSL):c.655-9C>G	158	ADSL	Likely benign	-1	RCV002203411;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755255	40755255	C	G	40755255	-
NM_000026.4(ADSL):c.655G>A (p.Val219Ile)	158	ADSL	Uncertain significance	rs1555907605	RCV000552936;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755264	40755264	G	A	22:g.40755264G>A	ClinGen:CA411641687	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.655G>T (p.Val219Leu)	158	ADSL	Uncertain significance	rs1555907605	RCV001303310;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755264	40755264	G	T	40755264	-
NM_000026.4(ADSL):c.666del (p.Asp223fs)	158	ADSL	Pathogenic	-1	RCV001383241;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755274	40755274	CT	C	40755273	-
NM_000026.4(ADSL):c.674T>C (p.Met225Thr)	158	ADSL	Pathogenic	rs119450945	RCV000002572;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755283	40755283	T	C	22:g.40755283T>C	ClinGen:CA115570,OMIM:608222.0008	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.684A>G (p.Glu228=)	158	ADSL	Likely benign	-1	RCV001480293;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755293	40755293	A	G	40755293	-
NM_000026.4(ADSL):c.701+1G>A	158	ADSL	Likely pathogenic	rs546878201	RCV001202658;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40755311	40755311	G	A	22:g.40755311G>A	-
NM_000026.4(ADSL):c.702-19C>G	158	ADSL	Likely benign	-1	RCV002169732;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756387	40756387	C	G	40756387	-
NM_000026.4(ADSL):c.702-15T>C	158	ADSL	Likely benign	-1	RCV002166841;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756391	40756391	T	C	40756391	-
NM_000026.4(ADSL):c.702-7T>C	158	ADSL	Conflicting interpretations of pathogenicity	rs201509960	RCV000186673\|RCV000723924\|RCV001081511;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756399	40756399	T	C	22:g.40756399T>C	ClinGen:CA233448	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.702-7T>A	158	ADSL	Likely benign	-1	RCV002141471;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756399	40756399	T	A	40756399	-
NM_000026.4(ADSL):c.702-3T>A	158	ADSL	Uncertain significance	rs1229114572	RCV001150922;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756403	40756403	T	A	22:g.40756403T>A	-
NM_000026.4(ADSL):c.702-2A>G	158	ADSL	Likely pathogenic	-1	RCV002030152;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756404	40756404	A	G	40756404	-
NM_000026.4(ADSL):c.708C>T (p.Phe236=)	158	ADSL	Likely benign	-1	RCV002190158;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756412	40756412	C	T	40756412	-
NM_000026.4(ADSL):c.712A>G (p.Ile238Val)	158	ADSL	Uncertain significance	-1	RCV001971176;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756416	40756416	A	G	40756416	-
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)	158	ADSL	Pathogenic	rs1601586359	RCV000990446;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756429	40756429	C	T	22:g.40756429C>T	-
NM_000026.4(ADSL):c.733C>T (p.Arg245Ter)	158	ADSL	Pathogenic	-1	RCV001942110;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756437	40756437	C	T	40756437	-
NM_000026.4(ADSL):c.734G>A (p.Arg245Gln)	158	ADSL	Uncertain significance	rs374047157	RCV000767889;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756438	40756438	G	A	NC_000022.10:g.40756438G>A	-
NM_000026.4(ADSL):c.735A>T (p.Arg245=)	158	ADSL	Conflicting interpretations of pathogenicity	rs143977255	RCV000186609\|RCV000723714\|RCV001079876;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756439	40756439	A	T	22:g.40756439A>T	ClinGen:CA220244	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.736A>G (p.Lys246Glu)	158	ADSL	Likely pathogenic	rs119450944	RCV000002570;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756440	40756440	A	G	22:g.40756440A>G	ClinGen:CA115569,UniProtKB:P30566#VAR_007975,OMIM:608222.0006	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.753_761del (p.Ser253_Leu255del)	158	ADSL	Uncertain significance	-1	RCV002009819;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756455	40756463	AGTACTGTCT	A	40756454	-
NM_000026.4(ADSL):c.754C>T (p.Leu252=)	158	ADSL	Likely benign	-1	RCV002081361;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756458	40756458	C	T	40756458	-
NM_000026.4(ADSL):c.763C>T (p.Leu255=)	158	ADSL	Conflicting interpretations of pathogenicity	rs771049726	RCV000341448;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756467	40756467	C	T	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	rs775115015	RCV000552133;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756473	40756473	A	G	22:g.40756473A>G	ClinGen:CA10247806	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.779C>T (p.Ala260Val)	158	ADSL	Uncertain significance	rs1601586537	RCV000797966;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756483	40756483	C	T	22:g.40756483C>T	-
NM_000026.4(ADSL):c.785T>C (p.Val262Ala)	158	ADSL	Uncertain significance	rs2044740915	RCV001206286;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756489	40756489	T	C	22:g.40756489T>C	-
NM_000026.4(ADSL):c.789C>T (p.His263=)	158	ADSL	Likely benign	-1	RCV002163229;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756493	40756493	C	T	40756493	-
NM_000026.4(ADSL):c.792+5G>C	158	ADSL	Uncertain significance	-1	RCV001916584;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756501	40756501	G	C	40756501	-
NM_000026.4(ADSL):c.792+6T>C	158	ADSL	Uncertain significance	rs768892416	RCV001305891;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40756502	40756502	T	C	40756502	-
NM_000026.4(ADSL):c.793-4C>T	158	ADSL	Likely benign	-1	RCV002093682;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757273	40757273	C	T	40757273	-
NM_000026.4(ADSL):c.793-3C>T	158	ADSL	Uncertain significance	rs2044774129	RCV001046900;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757274	40757274	C	T	22:g.40757274C>T	-
NM_000026.4(ADSL):c.801C>T (p.Thr267=)	158	ADSL	Likely benign	rs369069575	RCV000634541;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757285	40757285	C	T	NC_000022.10:g.40757285C>T	ClinGen:CA10247834	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.802G>A (p.Asp268Asn)	158	ADSL	Pathogenic	-1	RCV001382689;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757286	40757286	G	A	40757286	-
NM_000026.4(ADSL):c.805A>G (p.Ile269Val)	158	ADSL	Uncertain significance	rs759104126	RCV000498307\|RCV000706115;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757289	40757289	A	G	NC_000022.10:g.40757289A>G	ClinGen:CA10247836
NM_000026.4(ADSL):c.808C>T (p.Arg270Cys)	158	ADSL	Uncertain significance	rs181252862	RCV000402231;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757292	40757292	C	T	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	rs760189192	RCV001225335;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757293	40757293	G	A	22:g.40757293G>A	-
NM_000026.4(ADSL):c.818C>T (p.Ala273Val)	158	ADSL	Uncertain significance	rs962521087	RCV001338123;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757302	40757302	C	T	40757302	-
NM_000026.4(ADSL):c.820A>G (p.Asn274Asp)	158	ADSL	Uncertain significance	-1	RCV001941136;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757304	40757304	A	G	40757304	-
NM_000026.4(ADSL):c.829G>T (p.Glu277Ter)	158	ADSL	Pathogenic	-1	RCV001384334;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757313	40757313	G	T	40757313	-
NM_000026.4(ADSL):c.832A>G (p.Met278Val)	158	ADSL	Uncertain significance	rs2044778052	RCV001219514;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757316	40757316	A	G	22:g.40757316A>G	-
NM_000026.4(ADSL):c.842C>G (p.Pro281Arg)	158	ADSL	Uncertain significance	rs371529148	RCV000818257;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757326	40757326	C	G	22:g.40757326C>G	-
NM_000026.4(ADSL):c.842C>T (p.Pro281Leu)	158	ADSL	Uncertain significance	rs371529148	RCV001062284;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757326	40757326	C	T	22:g.40757326C>T	-
NM_000026.4(ADSL):c.843C>T (p.Pro281=)	158	ADSL	Likely benign	rs1555908183	RCV000532703;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757327	40757327	C	T	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	-1	RCV001891766;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757329	40757329	T	C	40757329	-
NM_000026.4(ADSL):c.853C>G (p.Gln285Glu)	158	ADSL	Uncertain significance	rs796052246	RCV001062077;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757337	40757337	C	G	22:g.40757337C>G	-
NM_000026.4(ADSL):c.854A>G (p.Gln285Arg)	158	ADSL	Uncertain significance	rs2044779637	RCV001340795;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757338	40757338	A	G	40757338	-
NM_000026.4(ADSL):c.856C>G (p.Gln286Glu)	158	ADSL	Uncertain significance	rs376912453	RCV000521719\|RCV001853643;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757340	40757340	C	G	NC_000022.10:g.40757340C>G	ClinGen:CA10247845
NM_000026.4(ADSL):c.859A>G (p.Ile287Val)	158	ADSL	Uncertain significance	-1	RCV001934126;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757343	40757343	A	G	40757343	-
NM_000026.4(ADSL):c.862+10G>A	158	ADSL	Likely benign	rs747275092	RCV000981625;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757356	40757356	G	A	22:g.40757356G>A	-
NM_000026.4(ADSL):c.862+13T>C	158	ADSL	Likely benign	-1	RCV002118959;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757359	40757359	T	C	40757359	-
NM_000026.4(ADSL):c.863-20T>G	158	ADSL	Likely benign	rs760407114	RCV000607072\|RCV002066609;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757472	40757472	T	G	22:g.40757472T>G	ClinGen:CA10247857	CN169374 not specified;
NM_000026.4(ADSL):c.863-18C>T	158	ADSL	Likely benign	-1	RCV002214981;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757474	40757474	C	T	40757474	-
NM_000026.4(ADSL):c.863-11T>C	158	ADSL	Likely benign	rs375532126	RCV000828825\|RCV002062226;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757481	40757481	T	C	22:g.40757481T>C	-
NM_000026.4(ADSL):c.863G>C (p.Gly288Ala)	158	ADSL	Uncertain significance	-1	RCV001918127;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757492	40757492	G	C	40757492	-
NM_000026.4(ADSL):c.869G>A (p.Ser290Asn)	158	ADSL	Uncertain significance	rs2044788172	RCV001220741;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757498	40757498	G	A	22:g.40757498G>A	-
NM_000026.4(ADSL):c.870T>C (p.Ser290=)	158	ADSL	Likely benign	rs146890981	RCV000634542;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757499	40757499	T	C	22:g.40757499T>C	ClinGen:CA10247861	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.872C>T (p.Ala291Val)	158	ADSL	Uncertain significance	rs2044788378	RCV001150923;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757501	40757501	C	T	22:g.40757501C>T	-
NM_000026.4(ADSL):c.873G>A (p.Ala291=)	158	ADSL	Likely benign	rs765122847	RCV000928991\|RCV001422082;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757502	40757502	G	A	22:g.40757502G>A	-
NM_000026.4(ADSL):c.879A>G (p.Pro293=)	158	ADSL	Likely benign	-1	RCV001394381;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757508	40757508	A	G	40757508	-
NM_000026.4(ADSL):c.880T>C (p.Tyr294His)	158	ADSL	Benign	rs8192461	RCV000540883\|RCV001721189;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757509	40757509	T	C	NC_000022.10:g.40757509T>C	ClinGen:CA313101	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp)	158	ADSL	Uncertain significance	rs536254357	RCV000521643\|RCV001350739\|RCV001814999;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN169374	22	40757515	40757515	C	T	NC_000022.10:g.40757515C>T	ClinGen:CA10247865
NM_000026.4(ADSL):c.887G>A (p.Arg296Gln)	158	ADSL	Uncertain significance	rs755059672	RCV000553354\|RCV000728589;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757516	40757516	G	A	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	-1	RCV001914563;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757520	40757520	T	A	40757520	-
NM_000026.4(ADSL):c.894C>T (p.Pro298=)	158	ADSL	Likely benign	-1	RCV001493234;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757523	40757523	C	T	40757523	-
NM_000026.4(ADSL):c.895A>G (p.Met299Val)	158	ADSL	Conflicting interpretations of pathogenicity	rs34396910	RCV000710485\|RCV001087090;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757524	40757524	A	G	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	rs1364564756	RCV000808407;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757525	40757525	T	C	22:g.40757525T>C	-
NM_000026.4(ADSL):c.898C>A (p.Arg300Ser)	158	ADSL	Uncertain significance	rs369617680	RCV000498255\|RCV001857014;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757527	40757527	C	A	NC_000022.10:g.40757527C>A	ClinGen:CA324458491
NM_000026.4(ADSL):c.898C>T (p.Arg300Cys)	158	ADSL	Uncertain significance	rs369617680	RCV000634537;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757527	40757527	C	T	22:g.40757527C>T	ClinGen:CA411643943	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.899G>A (p.Arg300His)	158	ADSL	Uncertain significance	rs864309550	RCV000202823\|RCV001220450;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757528	40757528	G	A	22:g.40757528G>A	ClinGen:CA249024	CN169374 not specified;
NM_000026.4(ADSL):c.907C>T (p.Arg303Cys)	158	ADSL	Pathogenic	rs373458753	RCV000293106\|RCV000727198;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757536	40757536	C	T	22:g.40757536C>T	ClinGen:CA10247868,UniProtKB:P30566#VAR_007976	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.913T>G (p.Cys305Gly)	158	ADSL	Uncertain significance	-1	RCV001910276;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757542	40757542	T	G	40757542	-
NM_000026.4(ADSL):c.916A>G (p.Ser306Gly)	158	ADSL	Uncertain significance	rs1006262492	RCV000473217;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757545	40757545	A	G	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	rs2044790556	RCV001208135;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757548	40757548	C	T	22:g.40757548C>T	-
NM_000026.4(ADSL):c.925C>T (p.Arg309Cys)	158	ADSL	Uncertain significance	rs376357524	RCV000186683\|RCV000764387;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757554	40757554	C	T	NC_000022.10:g.40757554C>T	ClinGen:CA313103
NM_000026.4(ADSL):c.926G>A (p.Arg309His)	158	ADSL	Uncertain significance	rs749817666	RCV000465601\|RCV000443295;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757555	40757555	G	A	NC_000022.10:g.40757555G>A	ClinGen:CA10247869
NM_000026.4(ADSL):c.946A>G (p.Met316Val)	158	ADSL	Uncertain significance	rs2044791557	RCV001262431;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757575	40757575	A	G	22:g.40757575A>G	-
NM_000026.4(ADSL):c.953C>T (p.Pro318Leu)	158	ADSL	Conflicting interpretations of pathogenicity	rs202064195	RCV000278336\|RCV000186684;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40757582	40757582	C	T	NC_000022.10:g.40757582C>T	ClinGen:CA313105,UniProtKB:P30566#VAR_017084
NM_000026.4(ADSL):c.955del (p.Leu319fs)	158	ADSL	Pathogenic	-1	RCV001387368;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757584	40757584	GC	G	40757583	-
NM_000026.4(ADSL):c.962C>T (p.Thr321Ile)	158	ADSL	Uncertain significance	rs1243449413	RCV001043302;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757591	40757591	C	T	22:g.40757591C>T	-
NM_000026.4(ADSL):c.974A>G (p.Gln325Arg)	158	ADSL	Uncertain significance	-1	RCV001911829;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757603	40757603	A	G	40757603	-
NM_000026.4(ADSL):c.977G>A (p.Trp326Ter)	158	ADSL	Pathogenic	rs2044792794	RCV001050339;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757606	40757606	G	A	22:g.40757606G>A	-
NM_000026.4(ADSL):c.978G>T (p.Trp326Cys)	158	ADSL	Uncertain significance	rs1224557562	RCV001304564;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757607	40757607	G	T	40757607	-
NM_000026.4(ADSL):c.985C>T (p.Arg329Cys)	158	ADSL	Uncertain significance	rs370221257	RCV001312484;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757614	40757614	C	T	40757614	-
NM_000026.4(ADSL):c.986G>A (p.Arg329His)	158	ADSL	Uncertain significance	rs768203123	RCV000726396\|RCV001042231;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757615	40757615	G	A	NC_000022.10:g.40757615G>A	ClinGen:CA10247872
NM_000026.4(ADSL):c.994G>C (p.Asp332His)	158	ADSL	Likely pathogenic	rs776496275	RCV000990447;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757623	40757623	G	C	22:g.40757623G>C	ClinVar:208488	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.999T>C (p.Asp333=)	158	ADSL	Likely benign	-1	RCV001496871;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757628	40757628	T	C	40757628	-
NM_000026.4(ADSL):c.1008C>G (p.Asn336Lys)	158	ADSL	Uncertain significance	-1	RCV001941106;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757637	40757637	C	G	40757637	-
NM_000026.4(ADSL):c.1009C>T (p.Arg337Ter)	158	ADSL	Pathogenic	rs761493155	RCV000186680\|RCV001209833;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757638	40757638	C	T	NC_000022.10:g.40757638C>T	ClinGen:CA313099
NM_000026.4(ADSL):c.1010+18A>G	158	ADSL	Benign	rs201019280	RCV000123545\|RCV001699040\|RCV002055395;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40757657	40757657	A	G	22:g.40757657A>G	ClinGen:CA289315	CN169374 not specified;
NM_000026.4(ADSL):c.1011-18T>C	158	ADSL	Likely benign	-1	RCV002207835;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758967	40758967	T	C	40758967	-
NM_000026.4(ADSL):c.1011-13A>G	158	ADSL	Likely benign	-1	RCV002106145;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758972	40758972	A	G	40758972	-
NM_000026.4(ADSL):c.1011-9G>C	158	ADSL	Conflicting interpretations of pathogenicity	rs780794164	RCV001150924;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758976	40758976	G	C	22:g.40758976G>C	-
NM_000026.4(ADSL):c.1011-5del	158	ADSL	Benign	-1	RCV001511240;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758977	40758977	GT	G	40758976	-
NM_000026.4(ADSL):c.1011-3T>C	158	ADSL	Uncertain significance	rs1376448837	RCV000822000;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758982	40758982	T	C	22:g.40758982T>C	-
NM_000026.4(ADSL):c.1016T>A (p.Ile339Asn)	158	ADSL	Uncertain significance	rs772974251	RCV000484518\|RCV001302302;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758990	40758990	T	A	NC_000022.10:g.40758990T>A	ClinGen:CA10247891
NM_000026.4(ADSL):c.1026del (p.Glu343fs)	158	ADSL	Pathogenic	-1	RCV001382329;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40758999	40758999	GC	G	40758998	-
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys)	158	ADSL	Uncertain significance	rs774159147	RCV000810822;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759001	40759001	G	A	22:g.40759001G>A	-
NM_000026.4(ADSL):c.1041C>T (p.Thr347=)	158	ADSL	Likely benign	-1	RCV002095878;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759015	40759015	C	T	40759015	-
NM_000026.4(ADSL):c.1042G>A (p.Ala348Thr)	158	ADSL	Uncertain significance	rs752735865	RCV001201984;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759016	40759016	G	A	22:g.40759016G>A	-
NM_000026.4(ADSL):c.1051A>G (p.Ile351Val)	158	ADSL	Uncertain significance	-1	RCV001362139;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759025	40759025	A	G	40759025	-
NM_000026.4(ADSL):c.1053A>G (p.Ile351Met)	158	ADSL	Uncertain significance	rs151095874	RCV001294247;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759027	40759027	A	G	40759027	-
NM_000026.4(ADSL):c.1060A>G (p.Thr354Ala)	158	ADSL	Uncertain significance	rs75953451	RCV000432959\|RCV000634536;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759034	40759034	A	G	NC_000022.10:g.40759034A>G	ClinGen:CA239081
NM_000026.4(ADSL):c.1061C>T (p.Thr354Met)	158	ADSL	Uncertain significance	rs752238667	RCV000186686\|RCV001857600;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759035	40759035	C	T	NC_000022.10:g.40759035C>T	ClinGen:CA313106
NM_000026.4(ADSL):c.1071C>T (p.Asn357=)	158	ADSL	Likely benign	-1	RCV002218541;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759045	40759045	C	T	40759045	-
NM_000026.4(ADSL):c.1089C>T (p.Val363=)	158	ADSL	Likely benign	rs368373129	RCV001427748\|RCV001703619;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40759063	40759063	C	T	22:g.40759063C>T	ClinGen:CA10247904	CN169374 not specified;
NM_000026.4(ADSL):c.1090G>A (p.Val364Met)	158	ADSL	Likely pathogenic	-1	RCV001971171;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759064	40759064	G	A	40759064	-
NM_000026.4(ADSL):c.1092G>A (p.Val364=)	158	ADSL	Likely benign	-1	RCV002133705;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759066	40759066	G	A	40759066	-
NM_000026.4(ADSL):c.1093T>C (p.Tyr365His)	158	ADSL	Uncertain significance	-1	RCV001979832;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759067	40759067	T	C	40759067	-
NM_000026.4(ADSL):c.1101+6_1101+8del	158	ADSL	Uncertain significance	-1	RCV001365221;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759078	40759080	TAAG	T	40759077	-
NM_000026.4(ADSL):c.1101+10C>T	158	ADSL	Likely benign	-1	RCV002196366;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40759085	40759085	C	T	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	na	na	-1	-
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	na	na	-1	-
NM_000026.4(ADSL):c.1102-18C>G	158	ADSL	Conflicting interpretations of pathogenicity	-1	RCV001613498\|RCV001866258;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760262	40760262	C	G	40760262	-
NM_000026.4(ADSL):c.1102-17C>T	158	ADSL	Likely benign	-1	RCV002178925;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760263	40760263	C	T	40760263	-
NM_000026.4(ADSL):c.1102-16G>A	158	ADSL	Likely benign	rs200428249	RCV000614052\|RCV002063132;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760264	40760264	G	A	22:g.40760264G>A	ClinGen:CA10247918	CN169374 not specified;
NM_000026.4(ADSL):c.1102-15dup	158	ADSL	Likely benign	-1	RCV002134102;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760264	40760265	G	GT	40760264	-
NM_000026.4(ADSL):c.1102-16G>T	158	ADSL	Likely benign	-1	RCV002094972;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760264	40760264	G	T	40760264	-
NM_000026.4(ADSL):c.1102-7C>T	158	ADSL	Likely benign	-1	RCV001396334;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760273	40760273	C	T	40760273	-
NM_000026.4(ADSL):c.1102-6C>G	158	ADSL	Uncertain significance	rs758666194	RCV001064875;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760274	40760274	C	G	22:g.40760274C>G	-
NM_000026.4(ADSL):c.1102-4A>G	158	ADSL	Uncertain significance	rs371780382	RCV001326174;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760276	40760276	A	G	40760276	-
NM_000026.4(ADSL):c.1105A>C (p.Ile369Leu)	158	ADSL	Conflicting interpretations of pathogenicity	-1	RCV001786850\|RCV002034624;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760283	40760283	A	C	40760283	-
NM_000026.4(ADSL):c.1106T>C (p.Ile369Thr)	158	ADSL	Uncertain significance	rs755688868	RCV000335846;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760284	40760284	T	C	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	rs777359946	RCV000544204;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760289	40760289	C	T	NC_000022.10:g.40760289C>T	ClinGen:CA324460176	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1112G>A (p.Arg371Gln)	158	ADSL	Uncertain significance	rs192303222	RCV000697137\|RCV000723724;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40760290	40760290	G	A	NC_000022.10:g.40760290G>A	ClinGen:CA220242
NM_000026.4(ADSL):c.1114C>A (p.Arg372Ser)	158	ADSL	Uncertain significance	rs778401578	RCV000696185;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760292	40760292	C	A	22:g.40760292C>A	-	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1115G>A (p.Arg372His)	158	ADSL	Uncertain significance	rs150228971	RCV000186688\|RCV000467182;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760293	40760293	G	A	NC_000022.10:g.40760293G>A	ClinGen:CA313108
NM_000026.4(ADSL):c.1120C>T (p.Arg374Trp)	158	ADSL	Uncertain significance	rs376533026	RCV000427780\|RCV000821230;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760298	40760298	C	T	NC_000022.10:g.40760298C>T	ClinGen:CA10247929
NM_000026.4(ADSL):c.1121G>A (p.Arg374Gln)	158	ADSL	Uncertain significance	rs568567422	RCV000483104\|RCV000634533;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760299	40760299	G	A	NC_000022.10:g.40760299G>A	ClinGen:CA10247930
NM_000026.4(ADSL):c.1122G>T (p.Arg374=)	158	ADSL	Likely benign	-1	RCV001436627;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760300	40760300	G	T	40760300	-
NM_000026.4(ADSL):c.1128G>C (p.Glu376Asp)	158	ADSL	Conflicting interpretations of pathogenicity	rs796052247	RCV000186689\|RCV001852436;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760306	40760306	G	C	NC_000022.10:g.40760306G>C	ClinGen:CA313110
NM_000026.4(ADSL):c.1128G>A (p.Glu376=)	158	ADSL	Likely benign	-1	RCV002181391;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760306	40760306	G	A	40760306	-
NM_000026.4(ADSL):c.1138A>G (p.Met380Val)	158	ADSL	Uncertain significance	-1	RCV002005733;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760316	40760316	A	G	40760316	-
NM_000026.4(ADSL):c.1145C>T (p.Thr382Ile)	158	ADSL	Uncertain significance	-1	RCV001990163;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760323	40760323	C	T	40760323	-
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del)	158	ADSL	Likely pathogenic	rs1601596522	RCV000990448;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760330	40760332	ACAT	A	22:g.40760330_40760332del	-
NM_000026.4(ADSL):c.1159A>G (p.Met387Val)	158	ADSL	Uncertain significance	-1	RCV001988172;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760337	40760337	A	G	40760337	-
NM_000026.4(ADSL):c.1167G>A (p.Met389Ile)	158	ADSL	Uncertain significance	rs766782678	RCV000412930\|RCV001351733;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760345	40760345	G	A	22:g.40760345G>A	ClinGen:CA10247936	CN169374 not specified;
NM_000026.4(ADSL):c.1186C>T (p.Arg396Cys)	158	ADSL	Conflicting interpretations of pathogenicity	rs755492501	RCV001039703\|RCV001268745;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40760364	40760364	C	T	22:g.40760364C>T	-
NM_000026.4(ADSL):c.1187G>A (p.Arg396His)	158	ADSL	Pathogenic/Likely pathogenic	rs763542069	RCV000186690\|RCV000779373;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760365	40760365	G	A	NC_000022.10:g.40760365G>A	ClinGen:CA313112,UniProtKB:P30566#VAR_017088
NM_000026.4(ADSL):c.1187del (p.Arg396fs)	158	ADSL	Pathogenic	rs2044916556	RCV001203918;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760365	40760365	CG	C	22:g.40760365_40760365del	-
NM_000026.4(ADSL):c.1191+12dup	158	ADSL	Likely benign	-1	RCV001451543;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760377	40760378	A	AC	40760377	-
NM_000026.4(ADSL):c.1191+8A>T	158	ADSL	Likely benign	-1	RCV002166393;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760377	40760377	A	T	40760377	-
NM_000026.4(ADSL):c.1191+9C>T	158	ADSL	Likely benign	rs371706528	RCV000865875\|RCV001704325;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40760378	40760378	C	T	22:g.40760378C>T	ClinGen:CA10247942	CN169374 not specified;
NM_000026.4(ADSL):c.1191+10C>G	158	ADSL	Likely benign	-1	RCV002192206;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760379	40760379	C	G	40760379	-
NM_000026.4(ADSL):c.1191+11C>A	158	ADSL	Likely benign	rs1057523739	RCV000440784\|RCV002063532;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760380	40760380	C	A	22:g.40760380C>A	ClinGen:CA16608673	CN169374 not specified;
NM_000026.4(ADSL):c.1191+17G>A	158	ADSL	Likely benign	-1	RCV002207690;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760386	40760386	G	A	40760386	-
NM_000026.4(ADSL):c.1192-5C>T	158	ADSL	Likely benign	-1	RCV001610053\|RCV002072914;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760879	40760879	C	T	40760879	-
NM_000026.4(ADSL):c.1200T>C (p.His400=)	158	ADSL	Conflicting interpretations of pathogenicity	rs751401941	RCV000407816;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760892	40760892	T	C	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	rs754714101	RCV000174209\|RCV001363767;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760899	40760899	A	C	22:g.40760899A>C	ClinGen:CA239717	CN169374 not specified;
NM_000026.4(ADSL):c.1212A>C (p.Arg404Ser)	158	ADSL	Uncertain significance	rs781253590	RCV000556894;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760904	40760904	A	C	22:g.40760904A>C	ClinGen:CA10247964	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)	158	ADSL	Pathogenic	-1	RCV001950883;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760914	40760914	C	T	40760914	-
NM_000026.4(ADSL):c.1231G>A (p.Ala411Thr)	158	ADSL	Uncertain significance	rs1196254689	RCV000795626;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760923	40760923	G	A	22:g.40760923G>A	-
NM_000026.4(ADSL):c.1235C>T (p.Ser412Phe)	158	ADSL	Uncertain significance	rs571597579	RCV001039736;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760927	40760927	C	T	22:g.40760927C>T	-
NM_000026.4(ADSL):c.1240G>T (p.Val414Phe)	158	ADSL	Uncertain significance	-1	RCV001952002;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760932	40760932	G	T	40760932	-
NM_000026.4(ADSL):c.1252G>C (p.Gly418Arg)	158	ADSL	Uncertain significance	rs372650859	RCV001338975;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760944	40760944	G	C	40760944	-
NM_000026.4(ADSL):c.1253G>A (p.Gly418Glu)	158	ADSL	Uncertain significance	rs774693972	RCV001144829;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760945	40760945	G	A	22:g.40760945G>A	-
NM_000026.4(ADSL):c.1256G>T (p.Gly419Val)	158	ADSL	Uncertain significance	rs886057505	RCV000300825;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760948	40760948	G	T	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	rs2044942817	RCV001309060;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760950	40760950	G	A	40760950	-
NM_000026.4(ADSL):c.1261_1263del (p.Asn421del)	158	ADSL	Uncertain significance	-1	RCV001928209;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760953	40760955	CAAT	C	40760952	-
NM_000026.4(ADSL):c.1262A>G (p.Asn421Ser)	158	ADSL	Uncertain significance	rs145750778	RCV000186691\|RCV000537481;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760954	40760954	A	G	NC_000022.10:g.40760954A>G	ClinGen:CA313113
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr)	158	ADSL	Uncertain significance	rs119450943	RCV000002568;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760956	40760956	G	T	22:g.40760956G>T	ClinGen:CA115567,UniProtKB:P30566#VAR_017089,OMIM:608222.0004	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1269C>A (p.Leu423=)	158	ADSL	Likely benign	-1	RCV002188373;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760961	40760961	C	A	40760961	-
NM_000026.4(ADSL):c.1276C>T (p.Arg426Cys)	158	ADSL	Pathogenic	rs796052248	RCV000186692\|RCV001253786;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760968	40760968	C	T	NC_000022.10:g.40760968C>T	ClinGen:CA313115
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)	158	ADSL	Pathogenic	rs119450941	RCV000002566\|RCV000186693;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40760969	40760969	G	A	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.1279A>G (p.Ile427Val)	158	ADSL	Uncertain significance	rs758241731	RCV000435716\|RCV000696181;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760971	40760971	A	G	NC_000022.10:g.40760971A>G	ClinGen:CA10247974
NM_000026.4(ADSL):c.1288G>A (p.Asp430Asn)	158	ADSL	Uncertain significance	rs554254383	RCV001971049;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760980	40760980	G	A	40760980	UniProtKB:P30566#VAR_017091
NM_000026.4(ADSL):c.1291G>A (p.Ala431Thr)	158	ADSL	Conflicting interpretations of pathogenicity	rs200814886	RCV000186695\|RCV000725224\|RCV001489163;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40760983	40760983	G	A	NC_000022.10:g.40760983G>A	ClinGen:CA313118
NM_000026.4(ADSL):c.1312T>C (p.Ser438Pro)	158	ADSL	Pathogenic	rs119450940	RCV000002565;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761004	40761004	T	C	22:g.40761004T>C	ClinGen:CA115564,UniProtKB:P30566#VAR_000680,OMIM:608222.0001	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1314C>G (p.Ser438=)	158	ADSL	Likely benign	-1	RCV001451269;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761006	40761006	C	G	40761006	-
NM_000026.4(ADSL):c.1318T>C (p.Leu440=)	158	ADSL	Likely benign	-1	RCV002146302;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761010	40761010	T	C	40761010	-
NM_000026.4(ADSL):c.1337CTT[2] (p.Ser448del)	158	ADSL	Uncertain significance	rs796052252	RCV000186709\|RCV001036968;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761029	40761031	CCTT	C	NC_000022.10:g.40761029CTT[2]	ClinGen:CA313140
NM_000026.4(ADSL):c.1337C>A (p.Pro446His)	158	ADSL	Uncertain significance	rs755964863	RCV000785042\|RCV000726681;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46\|MedGen:CN517202	22	40761029	40761029	C	A	NC_000022.10:g.40761029C>A	ClinGen:CA10247979
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro)	158	ADSL	Conflicting interpretations of pathogenicity	rs777821034	RCV000186696\|RCV000763485;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761031	40761031	T	C	NC_000022.10:g.40761031T>C	ClinGen:CA313120,UniProtKB:P30566#VAR_017092
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)	158	ADSL	Conflicting interpretations of pathogenicity	rs771121666	RCV000224729\|RCV000526230;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761034	40761034	T	C	NC_000022.10:g.40761034T>C	ClinGen:CA10247981
NM_000026.4(ADSL):c.1343C>G (p.Ser448Cys)	158	ADSL	Uncertain significance	rs1265053994	RCV000822391;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761035	40761035	C	G	22:g.40761035C>G	-
NM_000026.4(ADSL):c.1349C>G (p.Thr450Ser)	158	ADSL	Likely pathogenic	rs372895468	RCV000186712\|RCV001781543;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761041	40761041	C	G	NC_000022.10:g.40761041C>G	ClinGen:CA313145,UniProtKB:P30566#VAR_016932
NM_000026.4(ADSL):c.1349C>T (p.Thr450Ile)	158	ADSL	Uncertain significance	-1	RCV001369328;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761041	40761041	C	T	40761041	-
NM_000026.4(ADSL):c.1350T>C (p.Thr450=)	158	ADSL	Likely benign	rs200300396	RCV000634545;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761042	40761042	T	C	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	rs572438339	RCV001144830;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761046	40761046	C	T	22:g.40761046C>T	-
NM_000026.4(ADSL):c.1355G>A (p.Arg452His)	158	ADSL	Uncertain significance	rs775671027	RCV000634538;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761047	40761047	G	A	NC_000022.10:g.40761047G>A	ClinGen:CA10247984	C0268126 103050 Adenylosuccinate lyase deficiency;
NM_000026.4(ADSL):c.1355G>C (p.Arg452Pro)	158	ADSL	Likely pathogenic	-1	RCV002010963;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761047	40761047	G	C	40761047	-
NM_000026.4(ADSL):c.1358C>A (p.Ala453Asp)	158	ADSL	Uncertain significance	rs2044948939	RCV001313022;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761050	40761050	C	A	40761050	-
NM_000026.4(ADSL):c.1359C>T (p.Ala453=)	158	ADSL	Likely benign	rs1601598300	RCV000938289\|RCV001414468;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761051	40761051	C	T	22:g.40761051C>T	-
NM_000026.4(ADSL):c.1365G>T (p.Gln455His)	158	ADSL	Uncertain significance	rs1011687452	RCV001048058;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761057	40761057	G	T	22:g.40761057G>T	-
NM_000026.4(ADSL):c.1368+4A>C	158	ADSL	Uncertain significance	-1	RCV002002918;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761064	40761064	A	C	40761064	-
NM_000026.4(ADSL):c.1368+8del	158	ADSL	Likely benign	rs758319423	RCV000478334\|RCV000873236;	N	MedGen:CN169374\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761067	40761067	CT	C	22:g.40761067_40761067del	ClinGen:CA10247986	CN169374 not specified;
NM_000026.4(ADSL):c.1368+10C>T	158	ADSL	Likely benign	rs1330219053	RCV000869657\|RCV001479043;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40761070	40761070	C	T	22:g.40761070C>T	-
NM_000026.4(ADSL):c.1369G>T (p.Val457Leu)	158	ADSL	Uncertain significance	-1	RCV002010606;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762440	40762440	G	T	40762440	-
NM_000026.4(ADSL):c.1380C>T (p.Phe460=)	158	ADSL	Likely benign	-1	RCV002182218;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762451	40762451	C	T	40762451	-
NM_000026.4(ADSL):c.1393G>C (p.Val465Leu)	158	ADSL	Uncertain significance	rs1569104977	RCV000767890;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762464	40762464	G	C	NC_000022.10:g.40762464G>C	-
NM_000026.4(ADSL):c.1400C>G (p.Pro467Arg)	158	ADSL	Conflicting interpretations of pathogenicity	rs1057521071	RCV000438014\|RCV000688125;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762471	40762471	C	G	NC_000022.10:g.40762471C>G	ClinGen:CA16609100
NM_000026.4(ADSL):c.1405T>A (p.Leu469Ile)	158	ADSL	Uncertain significance	rs768999974	RCV000634535;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762476	40762476	T	A	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	rs796674225	RCV000796829;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762484	40762484	A	G	22:g.40762484A>G	-
NM_000026.4(ADSL):c.1416T>C (p.Tyr472=)	158	ADSL	Likely benign	-1	RCV001451067;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762487	40762487	T	C	40762487	-
NM_000026.4(ADSL):c.1422C>T (p.Ser474=)	158	ADSL	Likely benign	rs748593655	RCV000924781\|RCV001430088;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762493	40762493	C	T	22:g.40762493C>T	-
NM_000026.4(ADSL):c.1422C>G (p.Ser474Arg)	158	ADSL	Uncertain significance	-1	RCV001973296;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762493	40762493	C	G	40762493	-
NM_000026.4(ADSL):c.1423G>A (p.Val475Met)	158	ADSL	Uncertain significance	-1	RCV001927594;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762494	40762494	G	A	40762494	-
NM_000026.4(ADSL):c.1428G>A (p.Met476Ile)	158	ADSL	Uncertain significance	-1	RCV001878718;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762499	40762499	G	A	40762499	-
NM_000026.4(ADSL):c.1439C>G (p.Ala480Gly)	158	ADSL	Uncertain significance	rs796052250	RCV000727388\|RCV001313688;	N	MedGen:CN517202\|MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762510	40762510	C	G	NC_000022.10:g.40762510C>G	ClinGen:CA313123
NM_000026.4(ADSL):c.1443A>C (p.Glu481Asp)	158	ADSL	Uncertain significance	-1	RCV001365973;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762514	40762514	A	C	40762514	-
NM_000026.4(ADSL):c.1444T>C (p.Leu482=)	158	ADSL	Likely benign	-1	RCV001942040;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762515	40762515	T	C	40762515	-
NM_000026.4(ADSL):c.1448G>A (p.Cys483Tyr)	158	ADSL	Uncertain significance	-1	RCV001898164;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762519	40762519	G	A	40762519	-
NM_000026.4(ADSL):c.*45A>T	158	ADSL	Uncertain significance	rs180726920	RCV000362664;	N	MONDO:MONDO:0007068,MedGen:C0268126,OMIM:103050, Orphanet:46	22	40762571	40762571	A	T	NC_000022.10:g.40762571A>T	ClinGen:CA10248020	C0268126 103050 Adenylosuccinate lyase deficiency;

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