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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: metachromatic leukodystrophy (MONDO:0018868)
..Starting node ..metachromatic leukodystrophy, juvenile form ()
Child Nodes:
........metachromatic leukodystrophy, adult form ()
........metachromatic leukodystrophy, late infantile form ()
Sister Nodes:
..metachromatic leukodystrophy due to saposin b deficiency ()
..metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a ()
..metachromatic leukodystrophy, juvenile form ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

9591

Name:

metachromatic leukodystrophy, juvenile form

Definition:

Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain , which consists of nerve fibers covered by myelin .Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence , seizures , paralysis , inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.

Alternative IDs:

250100

ParentIDs:

TreeNumbers:

Synonyms:

ARSA deficiency; arylsulfatase A deficiency; arylsulfatase A deficiency, juvenile form; cerebral sclerosis diffuse metachromatic form; cerebral sclerosis, diffuse, metachromatic form; cerebroside sulfatase deficiency; leukodystrophy metachromatic; metachromatic leukodystrophy; metachromatic leukodys

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 250100;
MSeqDR :
Genes: ARSA; FAM20C;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002500	Abnormality of the cerebral white matter
3	HP:0001251	Ataxia
4	HP:0003487	Babinski sign
5	HP:0001283	Bulbar palsy
6	HP:0001082	Cholecystitis
7	HP:0002072	Chorea NAMDC: Chorea
8	HP:0000762	Decreased nerve conduction velocity
9	HP:0000746	Delusions
10	HP:0001260	Dysarthria NAMDC: Dysarthria
11	HP:0001332	Dystonia NAMDC: Dystonia
12	HP:0003445	EMG: neuropathic changes
13	HP:0000712	Emotional lability
14	HP:0001288	Gait disturbance
15	HP:0005609	Gallbladder dysfunction
16	HP:0001290	Generalized hypotonia
17	HP:0000738	Hallucinations
18	HP:0001347	Hyperreflexia NAMDC: Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
19	HP:0001265	Hyporeflexia
20	HP:0002922	Increased CSF protein
21	HP:0001249	Intellectual disability
22	HP:0002371	Loss of speech
23	HP:0001268	Mental deterioration
24	HP:0001252	Muscular hypotonia NAMDC: Hypotonia
25	HP:0000648	Optic atrophy
26	HP:0011096	Peripheral demyelination
27	HP:0007133	Progressive peripheral neuropathy
28	HP:0001250	Seizures NAMDC: Seizures
29	HP:0002510	Spastic tetraplegia
30	HP:0002445	Tetraplegia
31	HP:0000020	Urinary incontinence

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_000487.6(ARSA):c.1489_1492dup (p.Arg498fs)	410	ARSA	Pathogenic/Likely pathogenic	774153480	RCV000169193\|RCV001008371;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51063610	51063611	NC_000022.10:g.51063613_51063616dup	ClinGen:CA278472	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)	410	ARSA	Pathogenic/Likely pathogenic	774153480	RCV000411861\|RCV001821136;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51063610	51063611	NC_000022.10:g.51063616dup	ClinGen:CA10324718	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)	410	ARSA	Pathogenic/Likely pathogenic	-1	RCV002819939\|RCV003418614;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|	22	51063704	51063704	NC_000022.10:g.51063704G>A	-
NM_000487.6(ARSA):c.1344dup (p.Gly449fs)	410	ARSA	Pathogenic/Likely pathogenic	761555167	RCV000674168;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063758	51063759	22:g.51063758_51063759insG	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1337del (p.Gly446fs)	410	ARSA	Pathogenic/Likely pathogenic	750030142	RCV000585005\|RCV000669837;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063766	51063766	22:g.51063766_51063766del	ClinGen:CA10324744	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)	410	ARSA	Pathogenic/Likely pathogenic	74315481	RCV000003233\|RCV000020313;	N	MedGen:C4017847\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063871	51063871	22:g.51063871G>A	ClinGen:CA115999,OMIM:607574.0039	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1223_1231del (p.Ser408_Thr410del)	410	ARSA	Pathogenic/Likely pathogenic	765905826	RCV000169598\|RCV001726017;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51063872	51063880	NC_000022.10:g.51063874_51063882del	ClinGen:CA278488
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	410	ARSA	Pathogenic/Likely pathogenic	74315479	RCV000003230\|RCV000078936\|RCV000723624;	N	MedGen:C4017096\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064067	51064067	22:g.51064067C>T	ClinGen:CA115997,OMIM:607574.0036	C4017096 Arylsulfatase a pseudodeficiency, intermediate;
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)	410	ARSA	Pathogenic/Likely pathogenic	74315477	RCV000003228\|RCV000544790;	N	MedGen:C4017847\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064102	51064102	22:g.51064102C>T	ClinGen:CA115993,OMIM:607574.0034	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	410	ARSA	Pathogenic/Likely pathogenic	74315476	RCV000003227\|RCV000078933\|RCV000723522;	N	MedGen:C4017094\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064103	51064103	22:g.51064103G>A	ClinGen:CA115991,OMIM:607574.0033	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1107+1del	410	ARSA	Pathogenic/Likely pathogenic	1057517036	RCV000410748;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064363	51064363	22:g.51064363_51064363del	ClinGen:CA16042035	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	410	ARSA	Pathogenic/Likely pathogenic	74315475	RCV000003226\|RCV000169024\|RCV000413321\|RCV000414806;	N	MedGen:C4017094\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|Human Phenotype Ontology:HP:0002415,Human Phenotype Ontology:HP:0006926,Human Phenotype Ontology:HP:0007079,MONDO:MONDO:0019046,MedGen:C0023520,OMIM:PS312080,Or	22	51064461	51064461	22:g.51064461T>A	ClinGen:CA115989,OMIM:607574.0032	C0023520 Leukodystrophy;
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)	410	ARSA	Pathogenic/Likely pathogenic	398123419	RCV000078953\|RCV000723562;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51064480	51064480	22:g.51064480C>A	ClinGen:CA278427	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)	410	ARSA	Pathogenic/Likely pathogenic	398123418	RCV000078952\|RCV000723561;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064485	51064485	22:g.51064485G>A	ClinGen:CA278425	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.979+1G>A	410	ARSA	Pathogenic/Likely pathogenic	754722529	RCV000169323\|RCV003151752;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51064581	51064581	22:g.51064581C>T	ClinGen:CA278479	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)	410	ARSA	Pathogenic/Likely pathogenic	148092995	RCV000414752\|RCV000984246\|RCV002523904;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51064582	51064582	22:g.51064582C>T	ClinGen:CA10324863	CN517202 not provided;
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)	410	ARSA	Pathogenic/Likely pathogenic	199476382	RCV000058997\|RCV000984245;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064623	51064623	22:g.51064623C>T	ClinGen:CA219086,UniProtKB/Swiss-Prot:VAR_007275	CN517202 not provided;
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)	410	ARSA	Pathogenic/Likely pathogenic	199476389	RCV000058988\|RCV001854230;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064662	51064662	22:g.51064662A>G	ClinGen:CA219070,UniProtKB/Swiss-Prot:VAR_054196	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	410	ARSA	Pathogenic/Likely pathogenic	199476349	RCV000058985\|RCV000150060;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064678	51064678	22:g.51064678C>T	ClinGen:CA219064,UniProtKB/Swiss-Prot:VAR_054194	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)	410	ARSA	Pathogenic/Likely pathogenic	1555900678	RCV000674946;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064684	51064684	22:g.51064684G>A	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.869G>A (p.Arg290His)	410	ARSA	Pathogenic/Likely pathogenic	199476355	RCV000058984\|RCV000668693;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064692	51064692	22:g.51064692C>T	ClinGen:CA219062,UniProtKB/Swiss-Prot:VAR_054192	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	410	ARSA	Pathogenic/Likely pathogenic	74315473	RCV000003223\|RCV001642197;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|Human Phenotype Ontology:HP:0002497,MONDO:MONDO:0017845,MedGen:C1849156,OMIM:PS108600, Orphanet:316226	22	51064693	51064693	22:g.51064693G>A	ClinGen:CA278036,OMIM:607574.0029	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)	410	ARSA	Pathogenic/Likely pathogenic	966673017	RCV001785964;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065031	51065031	51065031	-
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	410	ARSA	Pathogenic/Likely pathogenic	74315472	RCV000003221\|RCV000169246\|RCV000991546;	N	MedGen:C4017094\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065046	51065046	22:g.51065046G>A	ClinGen:CA115985,OMIM:607574.0027	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)	410	ARSA	Pathogenic/Likely pathogenic	74315483	RCV000003237\|RCV000169048\|RCV000364541;	N	MONDO:MONDO:0017729,MedGen:C0751278, Orphanet:309256\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065110	51065110	22:g.51065110C>T	ClinGen:CA116007,OMIM:607574.0044	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	410	ARSA	Pathogenic/Likely pathogenic	74315471	RCV000003220\|RCV000020321\|RCV000723992;	N	MedGen:C4017094\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065134	51065134	22:g.51065134C>T	ClinGen:CA115983,OMIM:607574.0026	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.737G>A (p.Arg246His)	410	ARSA	Pathogenic/Likely pathogenic	199476366	RCV000058979\|RCV000150061;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065136	51065136	22:g.51065136C>T	ClinGen:CA219052,UniProtKB/Swiss-Prot:VAR_007268	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	410	ARSA	Pathogenic/Likely pathogenic	74315470	RCV000003219;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065137	51065137	22:g.51065137G>A	ClinGen:CA278034,OMIM:607574.0025	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter)	410	ARSA	Pathogenic/Likely pathogenic	757891932	RCV001929090;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065149	51065149	51065149	-
NM_000487.6(ARSA):c.622del (p.His208fs)	410	ARSA	Pathogenic/Likely pathogenic	1555900900	RCV000672593;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065324	51065324	22:g.51065324_51065324del	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)	410	ARSA	Pathogenic/Likely pathogenic	199476345	RCV000058975\|RCV000664907;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065338	51065338	22:g.51065338T>C	ClinGen:CA219044,UniProtKB/Swiss-Prot:VAR_007263	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)	410	ARSA	Pathogenic/Likely pathogenic	2082680103	RCV001290420;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065339	51065339	51065339	-
NM_000487.6(ARSA):c.545del (p.Pro182fs)	410	ARSA	Pathogenic/Likely pathogenic	1057516907	RCV000409957;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065401	51065401	NC_000022.10:g.51065403del	ClinGen:CA16042040	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.542dup (p.Leu183fs)	410	ARSA	Pathogenic/Likely pathogenic	776748338	RCV000674138;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065403	51065404	22:g.51065403_51065404insA	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	410	ARSA	Pathogenic/Likely pathogenic	74315457	RCV000003202\|RCV000003203\|RCV000020320\|RCV000657846\|RCV001267385;	N	MONDO:MONDO:0009591,MedGen:C0751276, Orphanet:309263\|MONDO:MONDO:0017730,MedGen:C0751279, Orphanet:309271\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	22	51065404	51065404	22:g.51065404A>C	ClinGen:CA115962,OMIM:607574.0008	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)	410	ARSA	Pathogenic/Likely pathogenic	762284875	RCV000409359;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065420	51065420	22:g.51065420G>A	ClinGen:CA10324986	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	410	ARSA	Pathogenic/Likely pathogenic	199476375	RCV000058965\|RCV000631449;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065610	51065610	22:g.51065610G>A	ClinGen:CA219024,UniProtKB/Swiss-Prot:VAR_054175	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.418del (p.His140fs)	410	ARSA	Pathogenic/Likely pathogenic	745884435	RCV000411769;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065641	51065641	22:g.51065641_51065641del	ClinGen:CA10325036	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)	410	ARSA	Pathogenic/Likely pathogenic	2082689435	RCV001172249;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065688	51065688	22:g.51065688C>T	-
NM_000487.6(ARSA):c.304del (p.Leu102fs)	410	ARSA	Pathogenic/Likely pathogenic	786204673	RCV000169476\|RCV002265656;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0017729,MedGen:C0751278, Orphanet:309256	22	51065755	51065755	22:g.51065755_51065755del	ClinGen:CA278486,OMIM:607574.0012	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)	410	ARSA	Pathogenic/Likely pathogenic	74315455	RCV000003198\|RCV000020318\|RCV000724149;	N	MONDO:MONDO:0017730,MedGen:C0751279, Orphanet:309271\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065757	51065757	22:g.51065757C>T	ClinGen:CA115958,OMIM:607574.0005	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.295dup (p.Arg99fs)	410	ARSA	Pathogenic/Likely pathogenic	1555901056	RCV000670248;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065763	51065764	22:g.51065763_51065764insG	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	410	ARSA	Pathogenic/Likely pathogenic	74315456	RCV000003199\|RCV000020317\|RCV000723374;	N	MONDO:MONDO:0017729,MedGen:C0751278, Orphanet:309256\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065766	51065766	22:g.51065765_51065766insA	ClinGen:CA115960,OMIM:607574.0006	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.244del (p.Arg82fs)	410	ARSA	Pathogenic/Likely pathogenic	1569081823	RCV000780862;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065815	51065815	NC_000022.10:g.51065816del	-
NM_000487.6(ARSA):c.240dup (p.Gly81fs)	410	ARSA	Pathogenic/Likely pathogenic	786204599	RCV000169355;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065818	51065819	NC_000022.10:g.51065820dup	ClinGen:CA278480	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.211_212del (p.Cys71fs)	410	ARSA	Pathogenic/Likely pathogenic	1057516288	RCV000410209;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065996	51065997	NC_000022.10:g.51065996CA[1]	ClinGen:CA16042046	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.200del (p.Pro67fs)	410	ARSA	Pathogenic/Likely pathogenic	2082697802	RCV001208287;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066008	51066008	22:g.51066008_51066008del	-
NM_000487.6(ARSA):c.195del (p.Phe64_Tyr65insTer)	410	ARSA	Pathogenic/Likely pathogenic	398123414	RCV000078942\|RCV000723526;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51066013	51066013	22:g.51066013_51066013del	ClinGen:CA278422	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)	410	ARSA	Pathogenic/Likely pathogenic	867538940	RCV001557720\|RCV003388025;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066030	51066030	51066030	-
NM_000487.6(ARSA):c.109_116del (p.Asp37fs)	410	ARSA	Pathogenic/Likely pathogenic	753415648	RCV000670737\|RCV003328618;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51066092	51066099	22:g.51066092_51066099del	-	C0023522 250100 Metachromatic leukodystrophy;
NC_000022.11:g.(?_50625125)_(50627799_?)del	410	ARSA	Pathogenic	-1	RCV000631450;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063553	51066227		-	C0023522 250100 Metachromatic leukodystrophy;
NC_000022.10:g.(?_51063563)_(51066217_?)del	410	ARSA	Pathogenic	-1	RCV001385082;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063563	51066217	-1	-
NC_000022.10:g.(?_51063573)_(51064511_?)del	410	ARSA	Pathogenic	-1	RCV003111289;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063573	51064511		-
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)	410	ARSA	Pathogenic	148352371	RCV001211652;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063656	51063656	22:g.51063656C>A	-
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs)	410	ARSA	Pathogenic	80338823	RCV000180166\|RCV000723834\|RCV002265665;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202\|MONDO:MONDO:0017729,MedGen:C0751278, Orphanet:309256	22	51063685	51063695	NC_000022.10:g.51063688_51063698del	ClinGen:CA278517,OMIM:607574.0007
NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter)	410	ARSA	Pathogenic	973061258	RCV001250463;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063725	51063725	22:g.51063725G>A	-
NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter)	410	ARSA	Pathogenic	2082644196	RCV001172255;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063737	51063737	22:g.51063737G>A	-
NM_000487.6(ARSA):c.1330dup (p.Leu444fs)	410	ARSA	Pathogenic	-1	RCV002909478;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063772	51063773	NC_000022.10:g.51063773dup	-
NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter)	410	ARSA	Pathogenic	1209071029	RCV001953645;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063810	51063810	51063810	-
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)	410	ARSA	Pathogenic	199476380	RCV000058950\|RCV001854228;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063811	51063811	22:g.51063811T>G	ClinGen:CA218996,UniProtKB/Swiss-Prot:VAR_054209	CN517202 not provided;
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	410	ARSA	Pathogenic	28940893	RCV000003197\|RCV000003195\|RCV000003196\|RCV000020314\|RCV000392246\|RCV001251909;	N	MONDO:MONDO:0017730,MedGen:C0751279, Orphanet:309271\|MONDO:MONDO:0009591,MedGen:C0751276, Orphanet:309263\|\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249	22	51063820	51063820	22:g.51063820G>A	ClinGen:CA115956,OMIM:607574.0004	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1278del (p.Glu426fs)	410	ARSA	Pathogenic	-1	RCV002847519;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063825	51063825	NC_000022.10:g.51063825del	-
NM_000487.6(ARSA):c.1274A>G (p.His425Arg)	410	ARSA	Pathogenic	1135401757	RCV000496135;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063829	51063829	NC_000022.10:g.51063829T>C	ClinGen:CA412168978	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1228_1229del (p.Thr410fs)	410	ARSA	Pathogenic	2146716979	RCV001532933;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063874	51063875	51063873	-
NM_000487.6(ARSA):c.1228dup (p.Thr410fs)	410	ARSA	Pathogenic	2146716994	RCV002249272;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063874	51063875	51063874	-
NM_000487.6(ARSA):c.1210+1G>A	410	ARSA	Pathogenic	80338820	RCV000003204\|RCV000020312\|RCV000723835;	N	MONDO:MONDO:0009591,MedGen:C0751276, Orphanet:309263\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064006	51064006	22:g.51064006C>T	ClinGen:CA115964,OMIM:607574.0009	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1198TTC[1] (p.Phe401del)	410	ARSA	Pathogenic	1569077723	RCV000003232;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064014	51064016	22:g.51064014_51064016del	OMIM:607574.0038	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1136del (p.Pro379fs)	410	ARSA	Pathogenic	2146717905	RCV001994511;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064081	51064081	51064080	-
NM_000487.6(ARSA):c.1128_1129dup (p.Phe377fs)	410	ARSA	Pathogenic	-1	RCV002875682;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064087	51064088	NC_000022.10:g.51064089_51064090dup	-
NM_000487.6(ARSA):c.1123_1126del (p.Leu375fs)	410	ARSA	Pathogenic	398123412	RCV001250461;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064091	51064094	22:g.51064091_51064094del	-
NM_000487.6(ARSA):c.1108-2A>G	410	ARSA	Pathogenic	398123411	RCV000078932\|RCV000482171;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51064111	51064111	22:g.51064111T>C	ClinGen:CA278420	C0023522 250100 Metachromatic leukodystrophy;
NC_000022.10:g.(?_51064344)_(51066227_?)del	410	ARSA	Pathogenic	-1	RCV001385083;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064344	51066227	-1	-
NM_000487.6(ARSA):c.1107+1G>T	410	ARSA	Pathogenic	2146718906	RCV001382884;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064363	51064363	51064363	-
NM_000487.6(ARSA):c.1107+1G>A	410	ARSA	Pathogenic	2146718906	RCV001941577;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064363	51064363	51064363	-
NM_000487.6(ARSA):c.1087dup (p.Leu363fs)	410	ARSA	Pathogenic	2082657747	RCV001064269;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064383	51064384	22:g.51064383_51064384insG	-
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)	410	ARSA	Pathogenic	2082658031	RCV001250460\|RCV001573988;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51064392	51064392	22:g.51064392A>G	-
NM_000487.6(ARSA):c.1053del (p.Asn352fs)	410	ARSA	Pathogenic	-1	RCV002838694;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064418	51064418	NC_000022.10:g.51064420del	-
NM_000487.6(ARSA):c.1046del (p.Pro349fs)	410	ARSA	Pathogenic	1603444908	RCV000818754;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064425	51064425	22:g.51064425_51064425del	-
NM_000487.6(ARSA):c.1030del (p.Ala344fs)	410	ARSA	Pathogenic	-1	RCV002286592;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064441	51064441	51064440	-
NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro)	410	ARSA	Pathogenic	2082660121	RCV001250459;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064464	51064464	22:g.51064464A>G	-
NM_000487.6(ARSA):c.970A>T (p.Ile324Phe)	410	ARSA	Pathogenic	-1	RCV002776250;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064591	51064591	NC_000022.10:g.51064591T>A	-
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)	410	ARSA	Pathogenic	1375757476	RCV000588032;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064601	51064601	NC_000022.10:g.51064601C>T	ClinGen:CA412174356	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.956_958del (p.Phe319del)	410	ARSA	Pathogenic	2082663514	RCV001172254;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064603	51064605	22:g.51064603_51064605del	-
NM_000487.6(ARSA):c.955_956insGCCTTGAT (p.Phe319fs)	410	ARSA	Pathogenic	-1	RCV002853238;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064605	51064606	NC_000022.10:g.51064606_51064607insTCAAGGCA	-
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	410	ARSA	Pathogenic	551472773	RCV000501028\|RCV000760416;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064624	51064624	NC_000022.10:g.51064624G>A	ClinGen:CA325531338	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)	410	ARSA	Pathogenic	199476356	RCV000058995\|RCV000695949;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064632	51064632	22:g.51064632C>T	ClinGen:CA219082,UniProtKB/Swiss-Prot:VAR_054199	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.929G>T (p.Gly310Val)	410	ARSA	Pathogenic	199476356	RCV000058996\|RCV000995697;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064632	51064632	22:g.51064632C>A	ClinGen:CA219084,UniProtKB/Swiss-Prot:VAR_054200	CN517202 not provided;
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)	410	ARSA	Pathogenic	199476360	RCV000058994\|RCV001039188;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064636	51064636	22:g.51064636C>T	ClinGen:CA219080,UniProtKB/Swiss-Prot:VAR_067417	CN517202 not provided;
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)	410	ARSA	Pathogenic	-1	RCV003064666;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064654	51064654	NC_000022.10:g.51064654C>T	-
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)	410	ARSA	Pathogenic	74315484	RCV001237276;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064656	51064656	22:g.51064656C>T	-
NM_000487.6(ARSA):c.891_895del (p.Gly298fs)	410	ARSA	Pathogenic	-1	RCV002286598;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064666	51064670	51064665	-
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)	410	ARSA	Pathogenic	74315474	RCV000003224\|RCV000492011;	N	MedGen:C4017094\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064671	51064671	22:g.51064671G>T	ClinGen:CA115987,OMIM:607574.0030	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)	410	ARSA	Pathogenic	28940894	RCV000003236\|RCV000795605;	N	MONDO:MONDO:0017730,MedGen:C0751279, Orphanet:309271\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064699	51064699	NC_000022.10:g.51064699T>G	ClinGen:CA116005,OMIM:607574.0043	C0751279 Metachromatic leukodystrophy, adult type;
NM_000487.6(ARSA):c.855-1G>A	410	ARSA	Pathogenic	754898479	RCV001042683;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064707	51064707	22:g.51064707C>T	-
NM_000487.6(ARSA):c.854+1G>T	410	ARSA	Pathogenic	886041911	RCV000263067\|RCV001855074;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065018	51065018	22:g.51065018C>A	ClinGen:CA10603518	CN517202 not provided;
NM_000487.6(ARSA):c.854+1G>A	410	ARSA	Pathogenic	886041911	RCV001192373\|RCV002221160;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C4017094	22	51065018	51065018	22:g.51065018C>T	OMIM:607574.0028
NM_000487.6(ARSA):c.852T>A (p.Asn284Lys)	410	ARSA	Pathogenic	1135401756	RCV000496194;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065021	51065021	22:g.51065021A>T	ClinGen:CA412175586	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.836_837delinsAA (p.Ile279Lys)	410	ARSA	Pathogenic	2082673250	RCV001250458;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065036	51065037	NC_000022.10:g.51065036_51065037delinsTT	-
NC_000022.10:g.(?_51065065)_(51065595_?)del	410	ARSA	Pathogenic	-1	RCV001939643;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065065	51065595	-1	-
NM_000487.6(ARSA):c.769G>C (p.Asp257His)	410	ARSA	Pathogenic	80338819	RCV000020322\|RCV000255092;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065104	51065104	22:g.51065104C>G	ClinGen:CA341708	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr)	410	ARSA	Pathogenic	199476367	RCV000058981\|RCV002247460;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065118	51065118	22:g.51065118G>T	ClinGen:CA219056,UniProtKB/Swiss-Prot:VAR_007270	CN517202 not provided;
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)	410	ARSA	Pathogenic	199476384	RCV000058980\|RCV000524971;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065127	51065127	22:g.51065127A>G	ClinGen:CA219054,UniProtKB/Swiss-Prot:VAR_054186	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.731C>A (p.Ser244Ter)	410	ARSA	Pathogenic	1394861740	RCV001895276;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065142	51065142	51065142	-
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)	410	ARSA	Pathogenic	751026400	RCV001172251;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065161	51065161	22:g.51065161G>A	-
NM_000487.6(ARSA):c.700C>T (p.Gln234Ter)	410	ARSA	Pathogenic	2082676249	RCV001250457;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065173	51065173	22:g.51065173G>A	-
NM_000487.6(ARSA):c.685-1G>A	410	ARSA	Pathogenic	2082676596	RCV001172250;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065189	51065189	22:g.51065189C>T	-
NM_000487.6(ARSA):c.685-2A>G	410	ARSA	Pathogenic	1490196552	RCV001380268\|RCV003324831;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065190	51065190	51065190	-
NM_000487.6(ARSA):c.684+1G>A	410	ARSA	Pathogenic	146371968	RCV001090367\|RCV001174677;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065261	51065261	22:g.51065261C>T	-
NM_000487.6(ARSA):c.645_660dup (p.Phe221fs)	410	ARSA	Pathogenic	-1	RCV003055704;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065285	51065286	NC_000022.10:g.51065286_51065301dup	-
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)	410	ARSA	Pathogenic	74315467	RCV000003216\|RCV000723836;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065305	51065305	22:g.51065305G>A	ClinGen:CA340036,OMIM:607574.0022	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro)	410	ARSA	Pathogenic	199476341	RCV000058976\|RCV001380269;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065306	51065306	22:g.51065306C>G	ClinGen:CA219046,UniProtKB/Swiss-Prot:VAR_054182	CN517202 not provided;
NM_000487.6(ARSA):c.617dup (p.Ala207fs)	410	ARSA	Pathogenic	2146723372	RCV001999993;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065328	51065329	51065328	-
NM_000487.6(ARSA):c.584G>A (p.Trp195Ter)	410	ARSA	Pathogenic	-1	RCV002848202;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065362	51065362	NC_000022.10:g.51065362C>T	-
NM_000487.6(ARSA):c.583del (p.Trp195fs)	410	ARSA	Pathogenic	398123416	RCV000078948\|RCV001251199;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065363	51065363	22:g.51065363_51065363del	ClinGen:CA278424	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.582dup (p.Trp195fs)	410	ARSA	Pathogenic	2082680996	RCV001250456;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065363	51065364	22:g.51065363_51065364insG	-
NM_000487.6(ARSA):c.582del (p.Trp195fs)	410	ARSA	Pathogenic	2082680996	RCV001420189;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065364	51065364	51065363	-
NM_000487.6(ARSA):c.581C>G (p.Pro194Arg)	410	ARSA	Pathogenic	769492279	RCV001920712;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065365	51065365	51065365	-
NM_000487.6(ARSA):c.574C>T (p.Gln192Ter)	410	ARSA	Pathogenic	-1	RCV002996828;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065372	51065372	NC_000022.10:g.51065372G>A	-
NM_000487.6(ARSA):c.545C>G (p.Pro182Arg)	410	ARSA	Pathogenic	1135401755	RCV000496198;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065401	51065401	NC_000022.10:g.51065401G>C	ClinGen:CA412177603	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg)	410	ARSA	Pathogenic	74315465	RCV000003214;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065440	51065440	22:g.51065440G>C	ClinGen:CA278028,OMIM:607574.0020	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.495_501del (p.Pro166fs)	410	ARSA	Pathogenic	1057517429	RCV000410974\|RCV001008063;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065445	51065451	NC_000022.10:g.51065447_51065453del	ClinGen:CA16042041
NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)	410	ARSA	Pathogenic	1430695346	RCV001580606;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065458	51065458	51065458	-
NM_000487.6(ARSA):c.466-4_482del	410	ARSA	Pathogenic	-1	RCV003037475;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065464	51065484	NC_000022.10:g.51065464_51065484del	-
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)	410	ARSA	Pathogenic	768028181	RCV000254939\|RCV000984244;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065472	51065472	22:g.51065472G>T	ClinGen:CA10325000	CN517202 not provided;
NM_000487.5(ARSA):c.467del	410	ARSA	Pathogenic	2082684340	RCV001061823;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065479	51065479	22:g.51065479_51065479del	-
NM_000487.6(ARSA):c.465+1G>A	410	ARSA	Pathogenic	80338815	RCV000003194\|RCV000003192\|RCV000020319\|RCV000335617\|RCV001251910\|RCV001267384\|RCV001778645\|RCV002251862;	N	MONDO:MONDO:0017730,MedGen:C0751279, Orphanet:309271\|MONDO:MONDO:0009591,MedGen:C0751276, Orphanet:309263\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,	22	51065593	51065593	22:g.51065593C>T	ClinGen:CA215122,OMIM:607574.0003	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.451dup (p.Tyr151fs)	410	ARSA	Pathogenic	2082687168	RCV001224526;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065607	51065608	22:g.51065607_51065608insA	-
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)	410	ARSA	Pathogenic	199476375	RCV000698866;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065610	51065610	22:g.51065610G>C	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)	410	ARSA	Pathogenic	199476373	RCV001042235;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065626	51065626	22:g.51065626G>A	-
NM_000487.6(ARSA):c.427T>C (p.Phe143Leu)	410	ARSA	Pathogenic	-1	RCV003061639;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065632	51065632	NC_000022.10:g.51065632A>G	-
NM_000487.6(ARSA):c.393_425del (p.Pro132_Gly142del)	410	ARSA	Pathogenic	2146725299	RCV001995439;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065634	51065666	51065633	-
NM_000487.6(ARSA):c.422del (p.Gln141fs)	410	ARSA	Pathogenic	-1	RCV003007549;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065637	51065637	NC_000022.10:g.51065637del	-
NM_000487.6(ARSA):c.418dup (p.His140fs)	410	ARSA	Pathogenic	745884435	RCV000409085\|RCV000598862\|RCV001265855;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	22	51065640	51065641	22:g.51065640_51065641insG	ClinGen:CA10325035	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.412C>A (p.Pro138Thr)	410	ARSA	Pathogenic	-1	RCV003041421;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065647	51065647	NC_000022.10:g.51065647G>T	-
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)	410	ARSA	Pathogenic	-1	RCV003318425;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065685	51065685		-
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	410	ARSA	Pathogenic	761860059	RCV000364716\|RCV000984243;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065713	51065713	22:g.51065713G>A	ClinGen:CA10603751	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.311del (p.Leu104fs)	410	ARSA	Pathogenic	-1	RCV002705864;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065748	51065748	NC_000022.10:g.51065748del	-
NM_000487.6(ARSA):c.302dup (p.Leu102fs)	410	ARSA	Pathogenic	761606317	RCV001193047;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065756	51065757	22:g.51065756_51065757insC	-
NM_000487.6(ARSA):c.302_303delinsTT (p.Gly101Val)	410	ARSA	Pathogenic	2146726223	RCV001950830;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065756	51065757	51065756	-
NM_000487.6(ARSA):c.302G>T (p.Gly101Val)	410	ARSA	Pathogenic	74315455	RCV000058960\|RCV000803574;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065757	51065757	NC_000022.10:g.51065757C>A	ClinGen:CA219014,UniProtKB/Swiss-Prot:VAR_054171	CN517202 not provided;
NM_000487.6(ARSA):c.272del (p.Pro91fs)	410	ARSA	Pathogenic	2082692417	RCV001915688;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065787	51065787	51065786	-
NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)	410	ARSA	Pathogenic	780399417	RCV001916815;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065789	51065789	51065789	-
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp)	410	ARSA	Pathogenic	74315460	RCV000003207\|RCV001353057;	N	MedGen:C4017094\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065796	51065796	22:g.51065796C>T	ClinGen:CA115969,OMIM:607574.0013	C4017094 Metachromatic leukodystrophy, severe;
NM_000487.6(ARSA):c.263del (p.Gly88fs)	410	ARSA	Pathogenic	-1	RCV002785457;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065796	51065796	NC_000022.10:g.51065798del	-
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)	410	ARSA	Pathogenic	74315458	RCV000003205\|RCV000020316\|RCV000723563;	N	MedGen:C4017093\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065802	51065802	22:g.51065802C>T	ClinGen:CA115965,OMIM:607574.0010	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.229G>C (p.Ala77Pro)	410	ARSA	Pathogenic	763880042	RCV000496166;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065830	51065830	22:g.51065830C>G	ClinGen:CA412181963	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.208_209del (p.Leu70fs)	410	ARSA	Pathogenic	1555901112	RCV001784817;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065999	51066000	51065998	-
NM_000487.6(ARSA):c.185_186del (p.Thr62fs)	410	ARSA	Pathogenic	1227301119	RCV001951599;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066022	51066023	51066021	-
NM_000487.6(ARSA):c.157_164del (p.Gln53fs)	410	ARSA	Pathogenic	2082698834	RCV001931749;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066044	51066051	51066043	-
NM_000487.6(ARSA):c.157C>T (p.Gln53Ter)	410	ARSA	Pathogenic	1603445026	RCV000807270;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066051	51066051	22:g.51066051G>A	-
NM_000487.6(ARSA):c.116dup (p.Cys40fs)	410	ARSA	Pathogenic	-1	RCV002856891;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066091	51066092	NC_000022.10:g.51066094dup	-
NM_000487.6(ARSA):c.110_111insACTGGGCTGCTATGGGCA (p.Asp37delinsGluLeuGlyCysTyrGlyHis)	410	ARSA	Pathogenic	-1	RCV002957662;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066097	51066098	NC_000022.10:g.51066098_51066099insGCCCATAGCAGCCCAGTT	-
NM_000487.6(ARSA):c.98T>C (p.Leu33Pro)	410	ARSA	Pathogenic	1135401754	RCV000496199;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066110	51066110	NC_000022.10:g.51066110A>G	ClinGen:CA412183183	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.34del (p.Ala12fs)	410	ARSA	Pathogenic	398123415	RCV000078944\|RCV001854393;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066174	51066174	22:g.51066174_51066174del	ClinGen:CA278423	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.13del (p.Ala5fs)	410	ARSA	Pathogenic	919125796	RCV001951431;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066195	51066195	51066194	-
NM_000487.6(ARSA):c.1388del (p.Leu463fs)	410	ARSA	Likely pathogenic	1057517237	RCV000409867;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063715	51063715	22:g.51063715_51063715del	ClinGen:CA16042033	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1323del (p.Asn440_Tyr441insTer)	410	ARSA	Likely pathogenic	1555900150	RCV000669753;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063780	51063780	22:g.51063780_51063780del	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1282_1283dup (p.Leu429fs)	410	ARSA	Likely pathogenic	-1	RCV002284046;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063819	51063820	51063819	-
NM_000487.6(ARSA):c.1282C>G (p.Pro428Ala)	410	ARSA	Likely pathogenic	2146716603	RCV001995345;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063821	51063821	51063821	-
NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys)	410	ARSA	Likely pathogenic	2146716641	RCV001824209;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063827	51063827	51063827	-
NM_000487.6(ARSA):c.1269del (p.Ala424fs)	410	ARSA	Likely pathogenic	2082646919	RCV001212980;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063834	51063834	22:g.51063834_51063834del	-
NM_000487.6(ARSA):c.1264del (p.Ser421_Leu422insTer)	410	ARSA	Likely pathogenic	755635209	RCV000483720\|RCV000673517;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063839	51063839	NC_000022.10:g.51063839del	ClinGen:CA10324757	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly)	410	ARSA	Likely pathogenic	1383481612	RCV001775249;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063865	51063865	51063865	-
NM_000487.6(ARSA):c.1222_1232del (p.Ser408fs)	410	ARSA	Likely pathogenic	1555900191	RCV000668785;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063871	51063881	22:g.51063871_51063881del	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile)	410	ARSA	Likely pathogenic	28940895	RCV000003238\|RCV001376978;	N	MONDO:MONDO:0017730,MedGen:C0751279, Orphanet:309271\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063874	51063874	22:g.51063874G>A	ClinGen:CA116009,OMIM:607574.0045	C0751279 Metachromatic leukodystrophy, adult type;
NM_000487.6(ARSA):c.1227_1228del (p.Thr410fs)	410	ARSA	Likely pathogenic	2082647866	RCV001280565;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063875	51063876	22:g.51063875_51063876del	-
NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr)	410	ARSA	Likely pathogenic	-1	RCV003067265;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063880	51063880	NC_000022.10:g.51063880C>G	-
NM_000487.6(ARSA):c.1210+1G>T	410	ARSA	Likely pathogenic	80338820	RCV000411066;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064006	51064006	NC_000022.10:g.51064006C>A	ClinGen:CA16042034	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1200C>T (p.Phe400=)	410	ARSA	Likely pathogenic	1175674325	RCV001250462;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064017	51064017	22:g.51064017G>A	-
NM_000487.6(ARSA):c.1197C>G (p.His399Gln)	410	ARSA	Likely pathogenic	752206330	RCV002025304;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064020	51064020	51064020	-
NM_000487.6(ARSA):c.1196A>G (p.His399Arg)	410	ARSA	Likely pathogenic	-1	RCV002876808;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064021	51064021	NC_000022.10:g.51064021T>C	-
NM_000487.6(ARSA):c.1187A>C (p.Tyr396Ser)	410	ARSA	Likely pathogenic	2146717660	RCV001733823;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064030	51064030	51064030	-
NM_000487.6(ARSA):c.1108-1G>C	410	ARSA	Likely pathogenic	2146718041	RCV002222915;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064110	51064110	51064110	-
NM_000487.6(ARSA):c.1036del (p.Ala346fs)	410	ARSA	Likely pathogenic	1555900463	RCV000667899;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064435	51064435	22:g.51064435_51064435del	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.980-2A>C	410	ARSA	Likely pathogenic	769152137	RCV000672005;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064493	51064493	22:g.51064493T>G	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.979_979+3del	410	ARSA	Likely pathogenic	1057516887	RCV000411535;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064579	51064582	22:g.51064579_51064582del	ClinGen:CA16042036	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.937dup (p.Arg313fs)	410	ARSA	Likely pathogenic	-1	RCV003227541;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064623	51064624		-
NM_000487.6(ARSA):c.931G>C (p.Gly311Arg)	410	ARSA	Likely pathogenic	74315459	RCV001172253;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064630	51064630	22:g.51064630C>G	-
NM_000487.6(ARSA):c.929del (p.Gly310fs)	410	ARSA	Likely pathogenic	1057516638	RCV000410340;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064632	51064632	22:g.51064632_51064632del	ClinGen:CA16042037	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.926A>T (p.Glu309Val)	410	ARSA	Likely pathogenic	1085308016	RCV000489590\|RCV002527037;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064635	51064635	22:g.51064635T>A	ClinGen:CA412174579	CN517202 not provided;
NM_000487.6(ARSA):c.925dup (p.Glu309fs)	410	ARSA	Likely pathogenic	1555900623	RCV000674527;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064635	51064636	22:g.51064635_51064636insC	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.926A>G (p.Glu309Gly)	410	ARSA	Likely pathogenic	-1	RCV002659128;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064635	51064635	NC_000022.10:g.51064635T>C	-
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)	410	ARSA	Likely pathogenic	199476360	RCV001193048;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064636	51064636	22:g.51064636C>A	-
NM_000487.6(ARSA):c.892G>A (p.Gly298Ser)	410	ARSA	Likely pathogenic	748876604	RCV001961325;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064669	51064669	51064669	-
NM_000487.6(ARSA):c.892G>T (p.Gly298Cys)	410	ARSA	Likely pathogenic	748876604	RCV002004843;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064669	51064669	51064669	-
NM_000487.6(ARSA):c.891del (p.Gly298fs)	410	ARSA	Likely pathogenic	1057517073	RCV000411756;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064670	51064670	22:g.51064670_51064670del	ClinGen:CA16042038	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)	410	ARSA	Likely pathogenic	199476342	RCV000058983\|RCV002283451;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065022	51065022	22:g.51065022T>C	ClinGen:CA219060,UniProtKB/Swiss-Prot:VAR_054190	CN517202 not provided;
NM_000487.6(ARSA):c.827C>A (p.Thr276Lys)	410	ARSA	Likely pathogenic	74315472	RCV001172252;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065046	51065046	22:g.51065046G>T	-
NM_000487.6(ARSA):c.826A>T (p.Thr276Ser)	410	ARSA	Likely pathogenic	140966324	RCV002029692;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065047	51065047	51065047	-
NM_000487.6(ARSA):c.771T>A (p.Asp257Glu)	410	ARSA	Likely pathogenic	563053401	RCV002009219;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065102	51065102	51065102	-
NM_000487.6(ARSA):c.770A>T (p.Asp257Val)	410	ARSA	Likely pathogenic	-1	RCV003054290;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065103	51065103	NC_000022.10:g.51065103T>A	-
NM_000487.6(ARSA):c.758dup (p.Met254fs)	410	ARSA	Likely pathogenic	74315270	RCV000668073;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065114	51065115	22:g.51065114_51065115insA	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.746T>G (p.Phe249Cys)	410	ARSA	Likely pathogenic	199476384	RCV001806304;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065127	51065127	51065127	-
NM_000487.6(ARSA):c.730_731del (p.Ser244fs)	410	ARSA	Likely pathogenic	-1	RCV002309555;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065142	51065143	51065141	-
NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)	410	ARSA	Likely pathogenic	748583298	RCV001379881;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065172	51065172	51065172	-
NM_000487.6(ARSA):c.680C>T (p.Ser227Phe)	410	ARSA	Likely pathogenic	-1	RCV002982621;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065266	51065266	NC_000022.10:g.51065266G>A	-
NM_000487.6(ARSA):c.679T>C (p.Ser227Pro)	410	ARSA	Likely pathogenic	1555900849	RCV000631448;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065267	51065267	NC_000022.10:g.51065267A>G	ClinGen:CA412176900	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.677C>A (p.Ala226Asp)	410	ARSA	Likely pathogenic	74315468	RCV000995698;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065269	51065269	22:g.51065269G>T	-
NM_000487.6(ARSA):c.674_675dup (p.Ala226fs)	410	ARSA	Likely pathogenic	1057516373	RCV000409278;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065270	51065271	NC_000022.10:g.51065272_51065273dup	ClinGen:CA16042039	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.620C>A (p.Ala207Asp)	410	ARSA	Likely pathogenic	759098239	RCV003154875;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065326	51065326		-
NM_000487.6(ARSA):c.609_610del (p.Met204fs)	410	ARSA	Likely pathogenic	-1	RCV002309075;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065336	51065337	51065335	-
NM_000487.6(ARSA):c.581C>A (p.Pro194His)	410	ARSA	Likely pathogenic	769492279	RCV001290419;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065365	51065365	51065365	-
NM_000487.6(ARSA):c.572_573insTGTCTCTTATA (p.Gln192fs)	410	ARSA	Likely pathogenic	-1	RCV002306866;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065373	51065374	51065373	-
NM_000487.6(ARSA):c.494dup (p.Pro166fs)	410	ARSA	Likely pathogenic	1057517346	RCV000412016;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065451	51065452	22:g.51065451_51065452insG	ClinGen:CA16042042	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)	410	ARSA	Likely pathogenic	74315463	RCV000003212;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065479	51065479	22:g.51065479C>T	ClinGen:CA278026,OMIM:607574.0018	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.466-2A>G	410	ARSA	Likely pathogenic	1057517044	RCV000409478;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065482	51065482	22:g.51065482T>C	ClinGen:CA16042043	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.465+2T>A	410	ARSA	Likely pathogenic	1555900989	RCV000669056;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065592	51065592	22:g.51065592A>T	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr)	410	ARSA	Likely pathogenic	199476365	RCV000058966\|RCV002513773;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065599	51065599	22:g.51065599C>A	UniProtKB/Swiss-Prot:VAR_007255,ClinGen:CA219026	CN517202 not provided;
NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)	410	ARSA	Likely pathogenic	1188592346	RCV001062955;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065617	51065617	22:g.51065617C>T	-
NM_000487.6(ARSA):c.436T>C (p.Phe146Leu)	410	ARSA	Likely pathogenic	-1	RCV003041420;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065623	51065623	NC_000022.10:g.51065623A>G	-
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly)	410	ARSA	Likely pathogenic	199476373	RCV000058964\|RCV001242589;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065626	51065626	22:g.51065626G>C	ClinGen:CA219022,UniProtKB/Swiss-Prot:VAR_054174	CN517202 not provided;
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)	410	ARSA	Likely pathogenic	1057516730	RCV000410152;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065638	51065638	NC_000022.10:g.51065638G>A	ClinGen:CA16042044	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.413C>A (p.Pro138His)	410	ARSA	Likely pathogenic	74315462	RCV001248156;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065646	51065646	22:g.51065646G>T	-
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser)	410	ARSA	Likely pathogenic	60504011	RCV000058962\|RCV001854229;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065647	51065647	22:g.51065647G>A	ClinGen:CA219018,UniProtKB/Swiss-Prot:VAR_054172	CN517202 not provided;
NM_000487.6(ARSA):c.385G>A (p.Gly129Arg)	410	ARSA	Likely pathogenic	753872402	RCV001345265;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065674	51065674	51065674	-
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)	410	ARSA	Likely pathogenic	777431148	RCV001376979\|RCV001574994;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065721	51065721	51065721	-
NM_000487.6(ARSA):c.335T>A (p.Val112Asp)	410	ARSA	Likely pathogenic	2082690324	RCV001172248;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065724	51065724	22:g.51065724A>T	-
NM_000487.6(ARSA):c.301G>T (p.Gly101Cys)	410	ARSA	Likely pathogenic	-1	RCV002620764;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065758	51065758	NC_000022.10:g.51065758C>A	-
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)	410	ARSA	Likely pathogenic	769892461	RCV000626198;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065814	51065814	NC_000022.10:g.51065814C>T	ClinGen:CA10325076	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)	410	ARSA	Likely pathogenic	-1	RCV002716076;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065814	51065814	NC_000022.10:g.51065814C>A	-
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)	410	ARSA	Likely pathogenic	1313802305	RCV001785963\|RCV003319478;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065815	51065815	51065815	-
NM_000487.6(ARSA):c.227_228insTA (p.Ala77fs)	410	ARSA	Likely pathogenic	1057516595	RCV000411185;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065831	51065832	22:g.51065831_51065832insTA	ClinGen:CA16042045	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.225-2A>G	410	ARSA	Likely pathogenic	1555901083	RCV000674241;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065836	51065836	22:g.51065836T>C	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.224+2T>A	410	ARSA	Likely pathogenic	2146727518	RCV002031058;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065982	51065982	51065982	-
NM_000487.6(ARSA):c.224+1G>A	410	ARSA	Likely pathogenic	1555901108	RCV000668533;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065983	51065983	22:g.51065983C>T	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.224+1G>T	410	ARSA	Likely pathogenic	1555901108	RCV002011795;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065983	51065983	51065983	-
NM_000487.6(ARSA):c.206_209del (p.Ser69fs)	410	ARSA	Likely pathogenic	1555901112	RCV000664482;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065999	51066002	22:g.51065999_51066002del	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.185_186dup (p.Asp63fs)	410	ARSA	Likely pathogenic	1227301119	RCV000674033;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066021	51066022	22:g.51066021_51066022insTG	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.160C>G (p.Leu54Val)	410	ARSA	Likely pathogenic	1410632651	RCV001377180;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066048	51066048	51066048	-
NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys)	410	ARSA	Likely pathogenic	-1	RCV002756041;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066086	51066086	NC_000022.10:g.51066086T>C	-
NM_000487.6(ARSA):c.109G>C (p.Asp37His)	410	ARSA	Likely pathogenic	2146728318	RCV002032009;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066099	51066099	51066099	-
NM_000487.6(ARSA):c.2T>C (p.Met1Thr)	410	ARSA	Likely pathogenic	1555901170	RCV000668820;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066206	51066206	22:g.51066206A>G	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*2374C>A	410	ARSA	Likely benign	11704557	RCV000299834;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061199	51061199	NC_000022.10:g.51061199G>T	ClinGen:CA10645782	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*2368A>T	410	ARSA	Uncertain significance	570115432	RCV001144184;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061205	51061205	22:g.51061205T>A	-
NM_000487.6(ARSA):c.*2316C>T	410	ARSA	Uncertain significance	117951552	RCV000356971;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061257	51061257	NC_000022.10:g.51061257G>A	ClinGen:CA10653671	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*2301T>C	410	ARSA	Uncertain significance	534387866	RCV000275009;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061272	51061272	NC_000022.10:g.51061272A>G	ClinGen:CA10651530	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*2283A>G	410	ARSA	Uncertain significance	2082610056	RCV001144185;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061290	51061290	22:g.51061290T>C	-
NM_000487.6(ARSA):c.*2259G>A	410	ARSA	Uncertain significance	187444411	RCV000332511;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061314	51061314	NC_000022.10:g.51061314C>T	ClinGen:CA10654212	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*2205A>T	410	ARSA	Uncertain significance	886057640	RCV000370691;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061368	51061368	NC_000022.10:g.51061368T>A	ClinGen:CA10651531	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*2134C>A	410	ARSA	Uncertain significance	911625206	RCV001144186;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061439	51061439	22:g.51061439G>T	-
NM_000487.6(ARSA):c.*2088CCT[1]	410	ARSA	Uncertain significance	886057641	RCV000269167;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061480	51061482	NC_000022.10:g.51061480AGG[1]	ClinGen:CA10645785	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*2065C>T	410	ARSA	Uncertain significance	776085194	RCV001146079;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061508	51061508	22:g.51061508G>A	-
NM_000487.6(ARSA):c.*2037C>T	410	ARSA	Uncertain significance	568146327	RCV001146080;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061536	51061536	22:g.51061536G>A	-
NM_000487.6(ARSA):c.*2023G>C	410	ARSA	Uncertain significance	886057642	RCV000326377;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061550	51061550	NC_000022.10:g.51061550C>G	ClinGen:CA10651532	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1987G>A	410	ARSA	Uncertain significance	886057643	RCV000383287;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061586	51061586	NC_000022.10:g.51061586C>T	ClinGen:CA10651533	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1969C>A	410	ARSA	Uncertain significance	556167510	RCV001146081;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061604	51061604	22:g.51061604G>T	-
NM_000487.6(ARSA):c.*1825C>T	410	ARSA	Uncertain significance	2082615571	RCV001146082;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061748	51061748	22:g.51061748G>A	-
NM_000487.6(ARSA):c.*1769A>G	410	ARSA	Benign	56788262	RCV000291332;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061804	51061804	NC_000022.10:g.51061804T>C	ClinGen:CA10654213	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1746G>A	410	ARSA	Benign	73172277	RCV000320648;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061827	51061827	NC_000022.10:g.51061827C>T	ClinGen:CA10651534	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1714G>A	410	ARSA	Uncertain significance	183937648	RCV001148874;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061859	51061859	22:g.51061859C>T	-
NM_000487.6(ARSA):c.*1712C>T	410	ARSA	Uncertain significance	1330240384	RCV001148875;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061861	51061861	22:g.51061861G>A	-
NM_000487.6(ARSA):c.*1629A>C	410	ARSA	Uncertain significance	886057644	RCV000377359;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061944	51061944	NC_000022.10:g.51061944T>G	ClinGen:CA10654214	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1627G>C	410	ARSA	Uncertain significance	886057645	RCV000285194;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061946	51061946	NC_000022.10:g.51061946C>G	ClinGen:CA10645786	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1617G>A	410	ARSA	Uncertain significance	886057646	RCV000342435;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061956	51061956	NC_000022.10:g.51061956C>T	ClinGen:CA10653672	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1576A>C	410	ARSA	Uncertain significance	886057647	RCV000407079;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51061997	51061997	NC_000022.10:g.51061997T>G	ClinGen:CA10654215	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1570C>T	410	ARSA	Benign	79823940	RCV000279470;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062003	51062003	NC_000022.10:g.51062003G>A	ClinGen:CA10653673	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1522C>A	410	ARSA	Benign	6009939	RCV000336859;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062051	51062051	NC_000022.10:g.51062051G>T	ClinGen:CA10651538	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1477C>T	410	ARSA	Uncertain significance	2082619608	RCV001150396;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062096	51062096	22:g.51062096G>A	-
NM_000487.6(ARSA):c.*1476G>A	410	ARSA	Uncertain significance	8142531	RCV000407062;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062097	51062097	NC_000022.10:g.51062097C>T	ClinGen:CA10645787	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1475C>G	410	ARSA	Uncertain significance	184515588	RCV000311135;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062098	51062098	NC_000022.10:g.51062098G>C	ClinGen:CA10654216	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1404dup	410	ARSA	Uncertain significance	746677403	RCV000368844;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062168	51062169	22:g.51062168_51062169insA	ClinGen:CA10645789	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1372G>A	410	ARSA	Uncertain significance	190478606	RCV000315349;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062201	51062201	22:g.51062201C>T	ClinGen:CA10651539	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1372G>T	410	ARSA	Uncertain significance	190478606	RCV000406407;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062201	51062201	22:g.51062201C>A	ClinGen:CA10653675	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1369C>T	410	ARSA	Benign	76841085	RCV000363091;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062204	51062204	22:g.51062204G>A	ClinGen:CA10651541	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1351C>G	410	ARSA	Benign	131717	RCV000270537;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062222	51062222	22:g.51062222G>C	ClinGen:CA10651546	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1267C>T	410	ARSA	Uncertain significance	886057648	RCV000327939;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062306	51062306	22:g.51062306G>A	ClinGen:CA10654217	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1238T>G	410	ARSA	Uncertain significance	6010033	RCV000366223;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062335	51062335	22:g.51062335A>C	ClinGen:CA10651547	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1213T>G	410	ARSA	Uncertain significance	886057649	RCV000264560;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062360	51062360	22:g.51062360A>C	ClinGen:CA10654218	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1212T>G	410	ARSA	Uncertain significance	868201030	RCV000322517;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062361	51062361	22:g.51062361A>C	ClinGen:CA10651549	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1207T>G	410	ARSA	Uncertain significance	985590155	RCV001144303;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062366	51062366	22:g.51062366A>C	-
NM_000487.6(ARSA):c.*1206G>T	410	ARSA	Uncertain significance	867069706	RCV000379497;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062367	51062367	22:g.51062367C>A	ClinGen:CA10653677	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1171A>G	410	ARSA	Uncertain significance	918518184	RCV001144304;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062402	51062402	22:g.51062402T>C	-
NM_000487.6(ARSA):c.*1157G>T	410	ARSA	Uncertain significance	775298785	RCV001144305;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062416	51062416	22:g.51062416C>A	-
NM_000487.6(ARSA):c.*1076A>T	410	ARSA	Benign	114833506	RCV000287418;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062497	51062497	22:g.51062497T>A	ClinGen:CA10653690	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1073G>T	410	ARSA	Uncertain significance	185955658	RCV001146196;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062500	51062500	22:g.51062500C>A	-
NM_000487.6(ARSA):c.*1062dup	410	ARSA	Uncertain significance	763817529	RCV000316732;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062510	51062511	22:g.51062510_51062511insT	ClinGen:CA10654219	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*1049T>A	410	ARSA	Uncertain significance	868511268	RCV001146197;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062524	51062524	22:g.51062524A>T	-
NM_000487.6(ARSA):c.*1012C>T	410	ARSA	Uncertain significance	886057650	RCV000373494;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062561	51062561	22:g.51062561G>A	ClinGen:CA10651550	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*992G>A	410	ARSA	Benign	376910590	RCV001146198;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062581	51062581	22:g.51062581C>T	-
NM_000487.6(ARSA):c.*919A>G	410	ARSA	Benign	5770805	RCV000281321;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062654	51062654	22:g.51062654T>C	ClinGen:CA10654220	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*874T>C	410	ARSA	Uncertain significance	886057651	RCV000338722;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062699	51062699	22:g.51062699A>G	ClinGen:CA10654221	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*855G>A	410	ARSA	Benign	7288050	RCV000407866;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062718	51062718	22:g.51062718C>T	ClinGen:CA10653691	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*794C>T	410	ARSA	Uncertain significance	886057652	RCV000294592;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062779	51062779	22:g.51062779G>A	ClinGen:CA10653694	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*777C>G	410	ARSA	Benign	115593886	RCV000351804;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062796	51062796	22:g.51062796G>C	ClinGen:CA10651557	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*741C>T	410	ARSA	Benign	8142033	RCV000407824;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062832	51062832	22:g.51062832G>A	ClinGen:CA10653695	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*729C>T	410	ARSA	Uncertain significance	191335867	RCV000307463;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062844	51062844	22:g.51062844G>A	ClinGen:CA10653697	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*682G>C	410	ARSA	Benign	7288338	RCV000346142;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062891	51062891	NC_000022.10:g.51062891C>G	ClinGen:CA10651561	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*643T>C	410	ARSA	Uncertain significance	886057653	RCV000405496;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062930	51062930	NC_000022.10:g.51062930A>G	ClinGen:CA10654222	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*635G>A	410	ARSA	Benign	5770953	RCV000301794;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062938	51062938	NC_000022.10:g.51062938C>T	ClinGen:CA10645791	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*625G>A	410	ARSA	Uncertain significance	778826401	RCV000358906;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062948	51062948	NC_000022.10:g.51062948C>T	ClinGen:CA10651562	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*624G>T	410	ARSA	Uncertain significance	2082632282	RCV001150506;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51062949	51062949	22:g.51062949C>A	-
NM_000487.6(ARSA):c.*527A>G	410	ARSA	Uncertain significance	898694289	RCV001150507;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063046	51063046	22:g.51063046T>C	-
NM_000487.6(ARSA):c.*503A>G	410	ARSA	Likely benign	141494339	RCV000266597;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063070	51063070	NC_000022.10:g.51063070T>C	ClinGen:CA10651565	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*479C>G	410	ARSA	Uncertain significance	565093599	RCV001150508;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063094	51063094	22:g.51063094G>C	-
NM_000487.6(ARSA):c.*466C>T	410	ARSA	Uncertain significance	1181265537	RCV001150509;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063107	51063107	22:g.51063107G>A	-
NM_000487.6(ARSA):c.*413T>G	410	ARSA	Uncertain significance	986551305	RCV001150510;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063160	51063160	22:g.51063160A>C	-
NM_000487.6(ARSA):c.*389A>G	410	ARSA	Uncertain significance	547501508	RCV001150511;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063184	51063184	22:g.51063184T>C	-
NM_000487.6(ARSA):c.*380G>A	410	ARSA	Uncertain significance	1249327412	RCV001144423;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063193	51063193	22:g.51063193C>T	-
NM_000487.6(ARSA):c.*342A>G	410	ARSA	Uncertain significance	182635438	RCV000305439;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063231	51063231	NC_000022.10:g.51063231T>C	ClinGen:CA10645792	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*340T>A	410	ARSA	Benign	5741862	RCV000353274;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063233	51063233	NC_000022.10:g.51063233A>T	ClinGen:CA10653699	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*332C>T	410	ARSA	Uncertain significance	780413907	RCV000267037;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063241	51063241	NC_000022.10:g.51063241G>A	ClinGen:CA10651569	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*293C>T	410	ARSA	Uncertain significance	886057654	RCV000322138;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063280	51063280	NC_000022.10:g.51063280G>A	ClinGen:CA10651572	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*191C>G	410	ARSA	Uncertain significance	537362532	RCV000376714;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063382	51063382	NC_000022.10:g.51063382G>C	ClinGen:CA10654223	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*165G>A	410	ARSA	Uncertain significance	144366706	RCV001144424;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063408	51063408	22:g.51063408C>T	-
NM_000487.6(ARSA):c.*130C>A	410	ARSA	Uncertain significance	886057655	RCV000272762;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063443	51063443	NC_000022.10:g.51063443G>T	ClinGen:CA10645794	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*127A>T	410	ARSA	Uncertain significance	977218325	RCV001146319;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063446	51063446	22:g.51063446T>A	-
NM_000487.6(ARSA):c.*125C>G	410	ARSA	Uncertain significance	886057656	RCV000327902;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063448	51063448	NC_000022.10:g.51063448G>C	ClinGen:CA10654224	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*103C>T	410	ARSA	Uncertain significance	146160737	RCV000382356;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063470	51063470	NC_000022.10:g.51063470G>A	ClinGen:CA10653700	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.*96A>G	410	ARSA	Benign; other	6151429	RCV000003190\|RCV000020309\|RCV000180167\|RCV000246300;	N	MedGen:C4017091\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|MedGen:CN169374	22	51063477	51063477	22:g.51063477T>C	ClinGen:CA115953,OMIM:607574.0001	C4017091 Arylsulfatase A pseudodeficiency;
NM_000487.6(ARSA):c.*73G>A	410	ARSA	Uncertain significance	2146715022	RCV001559155;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063500	51063500	51063500	-
NM_000487.6(ARSA):c.*15G>A	410	ARSA	Conflicting interpretations of pathogenicity	377187248	RCV001146320\|RCV001561920;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51063558	51063558	22:g.51063558C>T	-
NM_000487.6(ARSA):c.*10G>A	410	ARSA	Uncertain significance	772710219	RCV001146321;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063563	51063563	22:g.51063563C>T	-
NM_000487.6(ARSA):c.1523A>G (p.His508Arg)	410	ARSA	Uncertain significance	2082640761	RCV001329925;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063580	51063580	51063580	-
NM_000487.6(ARSA):c.1522C>T (p.His508Tyr)	410	ARSA	Uncertain significance	1278738755	RCV001247080;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063581	51063581	22:g.51063581G>A	-
NM_000487.6(ARSA):c.1516G>T (p.Asp506Tyr)	410	ARSA	Uncertain significance	764345345	RCV002037509;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063587	51063587	51063587	-
NM_000487.6(ARSA):c.1512C>T (p.Cys504=)	410	ARSA	Likely benign	2146715350	RCV002141670;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063591	51063591	51063591	-
NM_000487.6(ARSA):c.1500T>C (p.Ala500=)	410	ARSA	Likely benign	762056118	RCV002100442;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063603	51063603	51063603	-
NM_000487.6(ARSA):c.1493G>A (p.Arg498His)	410	ARSA	Benign/Likely benign	6151428	RCV000078941\|RCV000352286\|RCV000675745;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51063610	51063610	22:g.51063610C>T	ClinGen:CA146671	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)	410	ARSA	Conflicting interpretations of pathogenicity	6151428	RCV001060881\|RCV001759817;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51063610	51063610	22:g.51063610C>A	-
NM_000487.6(ARSA):c.1490_1492del (p.Pro497del)	410	ARSA	Uncertain significance	774153480	RCV000673639;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063611	51063613	22:g.51063611_51063613del	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1492C>T (p.Arg498Cys)	410	ARSA	Uncertain significance	-1	RCV002581888;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063611	51063611	NC_000022.10:g.51063611G>A	-
NM_000487.6(ARSA):c.1492C>A (p.Arg498Ser)	410	ARSA	Uncertain significance	-1	RCV002721566;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063611	51063611	NC_000022.10:g.51063611G>T	-
NM_000487.6(ARSA):c.1492del (p.Arg498fs)	410	ARSA	Uncertain significance	-1	RCV002974893;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063611	51063611	NC_000022.10:g.51063616del	-
NM_000487.6(ARSA):c.1489C>T (p.Pro497Ser)	410	ARSA	Uncertain significance	1250959266	RCV001973915;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063614	51063614	51063614	-
NM_000487.6(ARSA):c.1488C>G (p.Thr496=)	410	ARSA	Likely benign	-1	RCV003065868;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063615	51063615		-
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)	410	ARSA	Conflicting interpretations of pathogenicity	201085386	RCV002269326\|RCV000902745;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063616	51063616	22:g.51063616G>A	-
NM_000487.6(ARSA):c.1480G>A (p.Gly494Ser)	410	ARSA	Uncertain significance	144323513	RCV001296904;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063623	51063623	51063623	-
NM_000487.6(ARSA):c.1472G>A (p.Cys491Tyr)	410	ARSA	Uncertain significance	1060499585	RCV000477902;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063631	51063631	22:g.51063631C>T	ClinGen:CA16616942	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)	410	ARSA	Conflicting interpretations of pathogenicity	199476388	RCV000058952\|RCV000667096\|RCV002222376;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374	22	51063632	51063632	22:g.51063632A>C	ClinGen:CA219000,UniProtKB/Swiss-Prot:VAR_054211	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg)	410	ARSA	Conflicting interpretations of pathogenicity	755974448	RCV001916305\|RCV003395277;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|	22	51063635	51063635	51063635	-
NM_000487.6(ARSA):c.1467C>A (p.Ile489=)	410	ARSA	Likely benign	2146715555	RCV002204665;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063636	51063636	51063636	-
NM_000487.6(ARSA):c.1463A>G (p.Gln488Arg)	410	ARSA	Uncertain significance	2146715572	RCV001998429;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063640	51063640	51063640	-
NM_000487.6(ARSA):c.1456G>A (p.Ala486Thr)	410	ARSA	Uncertain significance	-1	RCV002741051;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063647	51063647	NC_000022.10:g.51063647C>T	-
NM_000487.6(ARSA):c.1455C>T (p.Pro485=)	410	ARSA	Likely benign	903106180	RCV000904671;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063648	51063648	22:g.51063648G>A	-
NM_000487.6(ARSA):c.1453C>T (p.Pro485Ser)	410	ARSA	Uncertain significance	-1	RCV003060434;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063650	51063650	NC_000022.10:g.51063650G>A	-
NM_000487.6(ARSA):c.1450G>C (p.Asp484His)	410	ARSA	Uncertain significance	749061034	RCV001934300;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063653	51063653	51063653	-
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)	410	ARSA	Conflicting interpretations of pathogenicity	148352371	RCV000180165\|RCV000388131;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063656	51063656	22:g.51063656C>T	ClinGen:CA247540	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1446C>G (p.Gly482=)	410	ARSA	Likely benign	759357711	RCV001440680;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063657	51063657	51063657	-
NM_000487.6(ARSA):c.1446C>A (p.Gly482=)	410	ARSA	Likely benign	759357711	RCV001490849;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063657	51063657	51063657	-
NM_000487.6(ARSA):c.1446C>T (p.Gly482=)	410	ARSA	Uncertain significance	759357711	RCV002015721;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063657	51063657	51063657	-
NM_000487.6(ARSA):c.1445G>A (p.Gly482Asp)	410	ARSA	Uncertain significance	745438306	RCV001912519;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063658	51063658	51063658	-
NM_000487.6(ARSA):c.1444G>A (p.Gly482Ser)	410	ARSA	Uncertain significance	377717242	RCV001149122;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063659	51063659	22:g.51063659C>T	-
NM_000487.6(ARSA):c.1443G>A (p.Arg481=)	410	ARSA	Likely benign	1487999885	RCV002153644;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063660	51063660	51063660	-
NM_000487.6(ARSA):c.1442G>A (p.Arg481Gln)	410	ARSA	Uncertain significance	776116011	RCV001974490\|RCV002466717;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51063661	51063661	51063661	-
NM_000487.6(ARSA):c.1441C>T (p.Arg481Trp)	410	ARSA	Uncertain significance	747443475	RCV001279637;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063662	51063662	22:g.51063662G>A	-
NM_000487.6(ARSA):c.1439C>T (p.Ala480Val)	410	ARSA	Uncertain significance	1490565534	RCV001941428;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063664	51063664	51063664	-
NM_000487.6(ARSA):c.1436T>C (p.Val479Ala)	410	ARSA	Uncertain significance	-1	RCV002886226;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063667	51063667	NC_000022.10:g.51063667A>G	-
NM_000487.6(ARSA):c.1435G>A (p.Val479Met)	410	ARSA	Uncertain significance	-1	RCV002651351;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063668	51063668	NC_000022.10:g.51063668C>T	-
NM_000487.6(ARSA):c.1434G>C (p.Gln478His)	410	ARSA	Uncertain significance	769169905	RCV001149123;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063669	51063669	22:g.51063669C>G	-
NM_000487.6(ARSA):c.1434G>A (p.Gln478=)	410	ARSA	Likely benign	769169905	RCV002152246;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063669	51063669	51063669	-
NM_000487.6(ARSA):c.1429A>T (p.Ser477Cys)	410	ARSA	Uncertain significance	-1	RCV003110753;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063674	51063674	NC_000022.10:g.51063674T>A	-
NM_000487.6(ARSA):c.1423G>A (p.Gly475Ser)	410	ARSA	Uncertain significance	1017776709	RCV001992683;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063680	51063680	51063680	-
NM_000487.6(ARSA):c.1422C>T (p.Phe474=)	410	ARSA	Likely benign	776884597	RCV001481499;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063681	51063681	51063681	-
NM_000487.6(ARSA):c.1408_1419del (p.Ala470_Thr473del)	410	ARSA	Uncertain significance	2082643081	RCV001219928;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063684	51063695	22:g.51063684_51063695del	-
NM_000487.6(ARSA):c.1419C>G (p.Thr473=)	410	ARSA	Likely benign	1436902786	RCV001485887;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063684	51063684	51063684	-
NM_000487.6(ARSA):c.1417A>T (p.Thr473Ser)	410	ARSA	Uncertain significance	1603444852	RCV002039929;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063686	51063686	51063686	-
NM_000487.6(ARSA):c.1415T>C (p.Val472Ala)	410	ARSA	Uncertain significance	978574508	RCV001947596;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063688	51063688	51063688	-
NM_000487.6(ARSA):c.1413T>C (p.Ala471=)	410	ARSA	Likely benign	1456677457	RCV002129561;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063690	51063690	51063690	-
NM_000487.6(ARSA):c.1410A>T (p.Ala470=)	410	ARSA	Likely benign	762111673	RCV001405595;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063693	51063693	51063693	-
NM_000487.6(ARSA):c.1408G>A (p.Ala470Thr)	410	ARSA	Uncertain significance	-1	RCV003060327;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063695	51063695	NC_000022.10:g.51063695C>T	-
NM_000487.6(ARSA):c.1407C>T (p.Asp469=)	410	ARSA	Likely benign	764962721	RCV001502846;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063696	51063696	51063696	-
NM_000487.6(ARSA):c.1400A>C (p.Gln467Pro)	410	ARSA	Uncertain significance	-1	RCV003141542;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063703	51063703	NC_000022.10:g.51063703T>G	-
NM_000487.6(ARSA):c.1398C>T (p.Ala466=)	410	ARSA	Likely benign	-1	RCV002755370;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063705	51063705		-
NM_000487.6(ARSA):c.1397C>T (p.Ala466Val)	410	ARSA	Uncertain significance; other	763065602	RCV000372841\|RCV001859568;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063706	51063706	22:g.51063706G>A	ClinGen:CA10324735	CN517202 not provided;
NM_000487.6(ARSA):c.1390C>T (p.Leu464Phe)	410	ARSA	Uncertain significance	2146716030	RCV001973872;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063713	51063713	51063713	-
NM_000487.6(ARSA):c.1389G>T (p.Leu463=)	410	ARSA	Likely benign	2146716035	RCV002172417;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063714	51063714	51063714	-
NM_000487.6(ARSA):c.1385A>G (p.Gln462Arg)	410	ARSA	Uncertain significance	2146716052	RCV001897051;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063718	51063718	51063718	-
NM_000487.6(ARSA):c.1378C>G (p.Gln460Glu)	410	ARSA	Uncertain significance	973061258	RCV001279638;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063725	51063725	22:g.51063725G>C	-
NM_000487.6(ARSA):c.1376A>G (p.Lys459Arg)	410	ARSA	Uncertain significance	-1	RCV002766756;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063727	51063727	NC_000022.10:g.51063727T>C	-
NM_000487.6(ARSA):c.1374G>A (p.Leu458=)	410	ARSA	Likely benign	752463776	RCV001476076;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063729	51063729	51063729	-
NM_000487.6(ARSA):c.1370C>T (p.Ala457Val)	410	ARSA	Uncertain significance	-1	RCV002953037;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063733	51063733	NC_000022.10:g.51063733G>A	-
NM_000487.6(ARSA):c.1363C>T (p.Leu455=)	410	ARSA	Likely benign	1276493346	RCV001424023;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063740	51063740	51063740	-
NM_000487.6(ARSA):c.1363C>A (p.Leu455Met)	410	ARSA	Uncertain significance	-1	RCV002613799;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063740	51063740	NC_000022.10:g.51063740G>T	-
NM_000487.6(ARSA):c.1359G>A (p.Glu453=)	410	ARSA	Likely benign	1240594590	RCV001443210;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063744	51063744	51063744	-
NM_000487.6(ARSA):c.1353C>A (p.Thr451=)	410	ARSA	Likely benign	2082644571	RCV001484936;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063750	51063750	51063750	-
NM_000487.6(ARSA):c.1345G>A (p.Gly449Arg)	410	ARSA	Benign	117341984	RCV000918415;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063758	51063758	22:g.51063758C>T	-
NM_000487.6(ARSA):c.1344C>T (p.Ala448=)	410	ARSA	Likely benign	757112622	RCV001426074;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063759	51063759	51063759	-
NM_000487.6(ARSA):c.1341G>A (p.Val447=)	410	ARSA	Uncertain significance	-1	RCV002917293;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063762	51063762		-
NM_000487.6(ARSA):c.1334G>T (p.Gly445Val)	410	ARSA	Uncertain significance	540762357	RCV000293609\|RCV000675746\|RCV002516812;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	22	51063769	51063769	22:g.51063769C>A	ClinGen:CA247538	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1332G>T (p.Leu444=)	410	ARSA	Likely benign	540031338	RCV000887581;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063771	51063771	22:g.51063771C>A	-
NM_000487.6(ARSA):c.1329G>T (p.Leu443=)	410	ARSA	Likely benign	758024178	RCV002168651;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063774	51063774	51063774	-
NM_000487.6(ARSA):c.1327C>T (p.Leu443=)	410	ARSA	Likely benign	-1	RCV002771091;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063776	51063776		-
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser)	410	ARSA	Conflicting interpretations of pathogenicity	6151427	RCV000901101\|RCV002051904;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51063778	51063778	22:g.51063778T>C	-
NM_000487.6(ARSA):c.1321T>G (p.Tyr441Asp)	410	ARSA	Uncertain significance	2082645489	RCV001910806;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063782	51063782	51063782	-
NM_000487.6(ARSA):c.1317G>A (p.Glu439=)	410	ARSA	Likely benign	2146716437	RCV002104238;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063786	51063786	51063786	-
NM_000487.6(ARSA):c.1313G>A (p.Gly438Asp)	410	ARSA	Uncertain significance	-1	RCV002639319;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063790	51063790	NC_000022.10:g.51063790C>T	-
NM_000487.6(ARSA):c.1311T>C (p.Pro437=)	410	ARSA	Likely benign	1450339742	RCV002083786;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063792	51063792	51063792	-
NM_000487.6(ARSA):c.1307A>G (p.Asp436Gly)	410	ARSA	Uncertain significance	-1	RCV002289026;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063796	51063796	51063796	-
NM_000487.6(ARSA):c.1305G>A (p.Lys435=)	410	ARSA	Uncertain significance	2146716483	RCV002018480;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063798	51063798	51063798	-
NM_000487.6(ARSA):c.1299G>A (p.Leu433=)	410	ARSA	Likely benign	-1	RCV002706440;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063804	51063804		-
NM_000487.6(ARSA):c.1298T>G (p.Leu433Arg)	410	ARSA	Uncertain significance	2146716505	RCV002006832;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063805	51063805	51063805	-
NM_000487.6(ARSA):c.1297C>G (p.Leu433Val)	410	ARSA	Likely benign	201693608	RCV000951013;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063806	51063806	22:g.51063806G>C	-
NM_000487.6(ARSA):c.1297C>T (p.Leu433=)	410	ARSA	Likely benign	-1	RCV003057610;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063806	51063806		-
NM_000487.6(ARSA):c.1294G>A (p.Asp432Asn)	410	ARSA	Uncertain significance	-1	RCV003066278;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063809	51063809	NC_000022.10:g.51063809C>T	-
NM_000487.6(ARSA):c.1290C>T (p.Leu430=)	410	ARSA	Likely benign	2146716551	RCV002185110;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063813	51063813	51063813	-
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)	410	ARSA	Conflicting interpretations of pathogenicity	199476392	RCV000058949\|RCV002514296;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063814	51063814	22:g.51063814A>G	ClinGen:CA218994,UniProtKB/Swiss-Prot:VAR_054208	CN517202 not provided;
NM_000487.6(ARSA):c.1287G>A (p.Leu429=)	410	ARSA	Likely benign	2082646305	RCV001447205;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063816	51063816	51063816	-
NM_000487.6(ARSA):c.1286T>C (p.Leu429Pro)	410	ARSA	Uncertain significance	1460092963	RCV001200925;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063817	51063817	22:g.51063817A>G	-
NM_000487.6(ARSA):c.1284G>A (p.Pro428=)	410	ARSA	Likely benign	143139801	RCV001457729;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063819	51063819	51063819	-
NM_000487.6(ARSA):c.1284G>C (p.Pro428=)	410	ARSA	Likely benign	143139801	RCV002132701;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063819	51063819	51063819	-
NM_000487.6(ARSA):c.1280C>T (p.Pro427Leu)	410	ARSA	Uncertain significance	-1	RCV002711602;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063823	51063823	NC_000022.10:g.51063823G>A	-
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)	410	ARSA	Conflicting interpretations of pathogenicity	-1	RCV003064665\|RCV003235764;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374	22	51063824	51063824	NC_000022.10:g.51063824G>A	-
NM_000487.6(ARSA):c.1278G>A (p.Glu426=)	410	ARSA	Likely benign	2146716622	RCV002186603;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063825	51063825	51063825	-
NM_000487.6(ARSA):c.1277A>G (p.Glu426Gly)	410	ARSA	Uncertain significance	376220189	RCV002035625;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063826	51063826	51063826	-
NM_000487.6(ARSA):c.1260C>T (p.Ser420=)	410	ARSA	Likely benign	1603444868	RCV001436392;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063843	51063843	22:g.51063843G>A	-
NM_000487.6(ARSA):c.1258A>C (p.Ser420Arg)	410	ARSA	Uncertain significance	139073195	RCV000348572;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063845	51063845	NC_000022.10:g.51063845T>G	ClinGen:CA10324759	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1256C>A (p.Ser419Tyr)	410	ARSA	Uncertain significance	998702737	RCV001878895;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063847	51063847	51063847	-
NM_000487.6(ARSA):c.1252G>A (p.Ala418Thr)	410	ARSA	Uncertain significance	-1	RCV002644525;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063851	51063851	NC_000022.10:g.51063851C>T	-
NM_000487.6(ARSA):c.1251C>T (p.His417=)	410	ARSA	Likely benign	140158705	RCV000873115;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063852	51063852	22:g.51063852G>A	-
NM_000487.6(ARSA):c.1230C>T (p.Thr410=)	410	ARSA	Likely benign	2146716964	RCV002119020;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063873	51063873	51063873	-
NM_000487.6(ARSA):c.1218C>G (p.Ala406=)	410	ARSA	Likely benign	-1	RCV002819240;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063885	51063885		-
NM_000487.6(ARSA):c.1214C>T (p.Ser405Phe)	410	ARSA	Uncertain significance	-1	RCV002284050;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063889	51063889	51063889	-
NM_000487.6(ARSA):c.1211-2A>G	410	ARSA	Uncertain significance	74925710	RCV002051131;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063894	51063894	51063894	-
NM_000487.6(ARSA):c.1211-3C>T	410	ARSA	Uncertain significance	-1	RCV003074311;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063895	51063895	NC_000022.10:g.51063895G>A	-
NM_000487.6(ARSA):c.1211-4C>T	410	ARSA	Likely benign	770243080	RCV001426076;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063896	51063896	51063896	-
NM_000487.6(ARSA):c.1211-5C>G	410	ARSA	Uncertain significance	778131215	RCV002023604;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063897	51063897	51063897	-
NM_000487.6(ARSA):c.1211-5C>T	410	ARSA	Likely benign	778131215	RCV001864464;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063897	51063897	51063897	-
NM_000487.6(ARSA):c.1211-7del	410	ARSA	Likely benign	2146717104	RCV002113267;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063899	51063899	51063898	-
NM_000487.6(ARSA):c.1211-8del	410	ARSA	Benign	1342017537	RCV001513905;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063900	51063900	51063899	-
NM_000487.6(ARSA):c.1211-8C>T	410	ARSA	Likely benign	1203092056	RCV002077421;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063900	51063900	51063900	-
NM_000487.6(ARSA):c.1211-9C>T	410	ARSA	Likely benign	1007814225	RCV002077522;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063901	51063901	51063901	-
NM_000487.6(ARSA):c.1211-10C>T	410	ARSA	Conflicting interpretations of pathogenicity	398123413	RCV000078939\|RCV001087723;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063902	51063902	22:g.51063902G>A	ClinGen:CA220986	CN169374 not specified;
NM_000487.6(ARSA):c.1211-12C>G	410	ARSA	Likely benign	1470754621	RCV002218229;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063904	51063904	51063904	-
NM_000487.6(ARSA):c.1211-15T>C	410	ARSA	Conflicting interpretations of pathogenicity	374150980	RCV000393936;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063907	51063907	NC_000022.10:g.51063907A>G	ClinGen:CA10324770	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1210+20C>G	410	ARSA	Benign	762674	RCV000078938\|RCV000442604\|RCV001510333;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063987	51063987	22:g.51063987G>C	ClinGen:CA146670	CN517202 not provided;
NM_000487.6(ARSA):c.1210+18A>G	410	ARSA	Likely benign	372705596	RCV002166127;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063989	51063989	51063989	-
NM_000487.6(ARSA):c.1210+18A>C	410	ARSA	Likely benign	-1	RCV003056495;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063989	51063989	NC_000022.10:g.51063989T>G	-
NM_000487.6(ARSA):c.1210+14G>A	410	ARSA	Likely benign	557367346	RCV002126485;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063993	51063993	51063993	-
NM_000487.6(ARSA):c.1210+13C>T	410	ARSA	Conflicting interpretations of pathogenicity	6151426	RCV001149124;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063994	51063994	22:g.51063994G>A	-
NM_000487.6(ARSA):c.1210+13C>A	410	ARSA	Benign/Likely benign	6151426	RCV001589955\|RCV002072341;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063994	51063994	51063994	-
NM_000487.6(ARSA):c.1210+13del	410	ARSA	Benign	2146717560	RCV002115789;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063994	51063994	51063993	-
NM_000487.6(ARSA):c.1210+8C>T	410	ARSA	Likely benign	2146717568	RCV002080976;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51063999	51063999	51063999	-
NM_000487.6(ARSA):c.1206C>T (p.Thr402=)	410	ARSA	Likely benign	-1	RCV002790654;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064011	51064011		-
NM_000487.6(ARSA):c.1197C>T (p.His399=)	410	ARSA	Likely benign	752206330	RCV001482966;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064020	51064020	51064020	-
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)	410	ARSA	Conflicting interpretations of pathogenicity	199476376	RCV000058947\|RCV000672049;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064022	51064022	22:g.51064022G>A	ClinGen:CA218990,UniProtKB/Swiss-Prot:VAR_007288	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1182A>C (p.Gly394=)	410	ARSA	Likely benign	2146717672	RCV002180434;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064035	51064035	51064035	-
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)	410	ARSA	Benign	743616	RCV000020311\|RCV000078937\|RCV000675747;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374\|MedGen:C3661900	22	51064039	51064039	22:g.51064039G>C	ClinGen:CA146668	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly)	410	ARSA	Conflicting interpretations of pathogenicity	2146717703	RCV001754573\|RCV001779343\|RCV002275219\|RCV002540348;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0700092,MeSH:D065886,MedGen:C1535926\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	22	51064039	51064040	51064039	-
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)	410	ARSA	Conflicting interpretations of pathogenicity	199476391	RCV000058946\|RCV000150058;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064042	51064042	22:g.51064042C>T	ClinGen:CA218988,UniProtKB/Swiss-Prot:VAR_007285	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	410	ARSA	Conflicting interpretations of pathogenicity	74315480	RCV000003231\|RCV000723375;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51064043	51064043	22:g.51064043G>A	ClinGen:CA278038,OMIM:607574.0037	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1171G>C (p.Val391Leu)	410	ARSA	Uncertain significance	-1	RCV002701227;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064046	51064046	NC_000022.10:g.51064046C>G	-
NM_000487.6(ARSA):c.1163T>A (p.Val388Asp)	410	ARSA	Uncertain significance	-1	RCV003340904;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064054	51064054		-
NM_000487.6(ARSA):c.1162G>T (p.Val388Phe)	410	ARSA	Uncertain significance	1222719732	RCV001231567;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064055	51064055	22:g.51064055C>A	-
NM_000487.6(ARSA):c.1157G>C (p.Arg386Pro)	410	ARSA	Uncertain significance	747155690	RCV000821897;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064060	51064060	22:g.51064060C>G	-
NM_000487.6(ARSA):c.1157G>A (p.Arg386His)	410	ARSA	Uncertain significance	747155690	RCV001931073;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064060	51064060	51064060	-
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)	410	ARSA	Conflicting interpretations of pathogenicity	199476370	RCV000058945\|RCV001329307\|RCV003387751;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374	22	51064061	51064061	22:g.51064061G>A	ClinGen:CA218986,UniProtKB/Swiss-Prot:VAR_007284	CN517202 not provided;
NM_000487.6(ARSA):c.1155C>T (p.Val385=)	410	ARSA	Likely benign	149088203	RCV001451233;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064062	51064062	22:g.51064062G>A	-
NM_000487.6(ARSA):c.1149C>T (p.Asp383=)	410	ARSA	Benign	6151425	RCV000078935\|RCV000335551\|RCV000675748;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064068	51064068	22:g.51064068G>A	ClinGen:CA146666	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1149C>A (p.Asp383Glu)	410	ARSA	Uncertain significance	-1	RCV003076512;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064068	51064068	NC_000022.10:g.51064068G>T	-
NM_000487.6(ARSA):c.1146A>G (p.Pro382=)	410	ARSA	Likely benign	2146717855	RCV002204241;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064071	51064071	51064071	-
NM_000487.6(ARSA):c.1137G>A (p.Pro379=)	410	ARSA	Likely benign	372869650	RCV001424879\|RCV002264310;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064080	51064080	51064080	-
NM_000487.6(ARSA):c.1134C>T (p.Tyr378=)	410	ARSA	Likely benign	775109445	RCV002166123;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064083	51064083	51064083	-
NM_000487.6(ARSA):c.1125C>T (p.Leu375=)	410	ARSA	Likely benign	574444264	RCV001491035;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064092	51064092	51064092	-
NM_000487.6(ARSA):c.1118A>C (p.Gln373Pro)	410	ARSA	Uncertain significance	-1	RCV002655981\|RCV003111646;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064099	51064099	NC_000022.10:g.51064099T>G	-
NM_000487.6(ARSA):c.1108-3C>G	410	ARSA	Conflicting interpretations of pathogenicity	1001100248	RCV000667567;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064112	51064112	22:g.51064112G>C	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1108-10C>G	410	ARSA	Likely benign	1285728159	RCV001462327;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064119	51064119	51064119	-
NM_000487.6(ARSA):c.1108-12C>G	410	ARSA	Uncertain significance	757806374	RCV002043299;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064121	51064121	51064121	-
NM_000487.6(ARSA):c.1108-16_1108-15del	410	ARSA	Likely benign	779517703	RCV002125808;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064124	51064125	51064123	-
NM_000487.6(ARSA):c.1108-16C>T	410	ARSA	Likely benign	-1	RCV002624090;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064125	51064125	NC_000022.10:g.51064125G>A	-
NM_000487.6(ARSA):c.1108-32C>T	410	ARSA	Benign	762673	RCV001527485\|RCV001597294;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064141	51064141	51064141	-
NM_000487.6(ARSA):c.1108-60C>T	410	ARSA	Benign	873697	RCV001639030\|RCV001827552;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064169	51064169	51064169	-
NM_000487.6(ARSA):c.1108-77C>A	410	ARSA	Likely benign	6151424	RCV001527486;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064186	51064186	51064186	-
NM_000487.6(ARSA):c.1107+125C>T	410	ARSA	Likely benign	6151423	RCV001527487\|RCV001581179;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064239	51064239	51064239	-
NM_000487.6(ARSA):c.1107+20A>G	410	ARSA	Likely benign	775162723	RCV002093720;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064344	51064344	51064344	-
NM_000487.6(ARSA):c.1107+18del	410	ARSA	Likely benign	758769790	RCV002219533;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064346	51064346	51064345	-
NM_000487.6(ARSA):c.1107+16C>T	410	ARSA	Likely benign	-1	RCV002576075;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064348	51064348	NC_000022.10:g.51064348G>A	-
NM_000487.6(ARSA):c.1107+16C>G	410	ARSA	Likely benign	-1	RCV002612807;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064348	51064348	NC_000022.10:g.51064348G>C	-
NM_000487.6(ARSA):c.1107+10G>C	410	ARSA	Likely benign	1298177681	RCV001423591;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064354	51064354	51064354	-
NM_000487.6(ARSA):c.1107+10del	410	ARSA	Likely benign	777871462	RCV002156499;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064354	51064354	51064353	-
NM_000487.6(ARSA):c.1107+10G>A	410	ARSA	Likely benign	1298177681	RCV002108668;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064354	51064354	51064354	-
NM_000487.6(ARSA):c.1107+9G>A	410	ARSA	Likely benign	768146306	RCV000929561;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064355	51064355	22:g.51064355C>T	-
NM_000487.6(ARSA):c.1107+8C>T	410	ARSA	Likely benign	551131929	RCV001492090;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064356	51064356	51064356	-
NM_000487.6(ARSA):c.1107+8C>G	410	ARSA	Likely benign	551131929	RCV002097490;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064356	51064356	51064356	-
NM_000487.6(ARSA):c.1107G>C (p.Lys369Asn)	410	ARSA	Uncertain significance	199476369	RCV000058942\|RCV001216197;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064364	51064364	22:g.51064364C>G	ClinGen:CA218980,UniProtKB/Swiss-Prot:VAR_007279	CN517202 not provided;
NM_000487.6(ARSA):c.1106A>C (p.Lys369Thr)	410	ARSA	Uncertain significance	200901626	RCV001952306;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064365	51064365	51064365	-
NM_000487.6(ARSA):c.1095G>A (p.Leu365=)	410	ARSA	Likely benign	765842290	RCV001942651;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064376	51064376	51064376	-
NM_000487.6(ARSA):c.1089G>C (p.Leu363=)	410	ARSA	Likely benign	1233796816	RCV002136359;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064382	51064382	51064382	-
NM_000487.6(ARSA):c.1087C>T (p.Leu363=)	410	ARSA	Likely benign	-1	RCV002590068;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064384	51064384		-
NM_000487.6(ARSA):c.1086C>T (p.Pro362=)	410	ARSA	Likely benign	2082657800	RCV002195557;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064385	51064385	51064385	-
NM_000487.6(ARSA):c.1077C>T (p.Asp359=)	410	ARSA	Likely benign	1047628670	RCV001443807;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064394	51064394	51064394	-
NM_000487.6(ARSA):c.1068T>C (p.Asp356=)	410	ARSA	Likely benign	1490242617	RCV002180393;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064403	51064403	51064403	-
NM_000487.6(ARSA):c.1063T>G (p.Leu355Val)	410	ARSA	Uncertain significance	763446964	RCV001889145;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064408	51064408	51064408	-
NM_000487.6(ARSA):c.1059C>T (p.Val353=)	410	ARSA	Uncertain significance	-1	RCV003141543;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064412	51064412		-
NM_000487.6(ARSA):c.1056T>C (p.Asn352=)	410	ARSA	Likely benign	-1	RCV002706586;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064415	51064415		-
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser)	410	ARSA	Benign/Likely benign; other	2071421	RCV000003191\|RCV000020310\|RCV000078931\|RCV000249834\|RCV001357207;	N	\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009591,MedGen:C0751276, Orphanet:309263	22	51064416	51064416	22:g.51064416T>C	ClinGen:CA115954,OMIM:607574.0002	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.1052C>T (p.Pro351Leu)	410	ARSA	Uncertain significance	-1	RCV002606629;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064419	51064419	NC_000022.10:g.51064419G>A	-
NM_000487.6(ARSA):c.1047A>C (p.Pro349=)	410	ARSA	Likely benign	2146719351	RCV002072463;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064424	51064424	51064424	-
NM_000487.6(ARSA):c.1041G>A (p.Gly347=)	410	ARSA	Likely benign	1346784797	RCV001496016;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064430	51064430	51064430	-
NM_000487.6(ARSA):c.1035G>C (p.Leu345=)	410	ARSA	Likely benign	2146719470	RCV002152890;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064436	51064436	51064436	-
NM_000487.6(ARSA):c.1033C>T (p.Leu345=)	410	ARSA	Likely benign	-1	RCV002646674;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064438	51064438		-
NM_000487.6(ARSA):c.1030G>C (p.Ala344Pro)	410	ARSA	Uncertain significance	-1	RCV002917784;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064441	51064441	NC_000022.10:g.51064441C>G	-
NM_000487.6(ARSA):c.1024C>T (p.Leu342=)	410	ARSA	Likely benign	1220454918	RCV001460529;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064447	51064447	51064447	-
NM_000487.6(ARSA):c.1012C>G (p.Leu338Val)	410	ARSA	Uncertain significance	2146719624	RCV001881201;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064459	51064459	51064459	-
NM_000487.6(ARSA):c.1011C>T (p.Asp337=)	410	ARSA	Likely benign	1490520664	RCV002208145;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064460	51064460	51064460	-
NM_000487.6(ARSA):c.1006C>T (p.Leu336=)	410	ARSA	Likely benign	778950224	RCV000941010;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064465	51064465	22:g.51064465G>A	-
NM_000487.6(ARSA):c.1005C>T (p.Ser335=)	410	ARSA	Likely benign	745783614	RCV002172578;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064466	51064466	51064466	-
NM_000487.6(ARSA):c.1005C>A (p.Ser335=)	410	ARSA	Likely benign	-1	RCV003121402;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064466	51064466		-
NM_000487.6(ARSA):c.1002C>T (p.Ser334=)	410	ARSA	Benign/Likely benign	147027229	RCV000305061\|RCV000303048\|RCV000675749;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374\|MedGen:C3661900	22	51064469	51064469	22:g.51064469G>A	ClinGen:CA10324842	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.999C>A (p.Ala333=)	410	ARSA	Likely benign	374063562	RCV002173876;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064472	51064472	51064472	-
NM_000487.6(ARSA):c.999C>T (p.Ala333=)	410	ARSA	Likely benign	374063562	RCV002195323;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064472	51064472	51064472	-
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	410	ARSA	Conflicting interpretations of pathogenicity	398123419	RCV000671936\|RCV002282317\|RCV002531300;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	22	51064480	51064480	22:g.51064480C>T	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.990C>T (p.His330=)	410	ARSA	Likely benign	768366772	RCV001279639;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064481	51064481	22:g.51064481G>A	-
NM_000487.6(ARSA):c.986C>G (p.Thr329Ser)	410	ARSA	Uncertain significance	-1	RCV002780356;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064485	51064485	NC_000022.10:g.51064485G>C	-
NM_000487.6(ARSA):c.982G>A (p.Val328Met)	410	ARSA	Likely benign	143994992	RCV000902711\|RCV001702069;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51064489	51064489	22:g.51064489C>T	-
NM_000487.6(ARSA):c.981C>T (p.Gly327=)	410	ARSA	Uncertain significance	-1	RCV002886284;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064490	51064490		-
NM_000487.6(ARSA):c.980-7C>T	410	ARSA	Likely benign	1401632855	RCV001478383;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064498	51064498	51064498	-
NM_000487.6(ARSA):c.980-8G>A	410	ARSA	Likely benign	1259035524	RCV002139023;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064499	51064499	51064499	-
NM_000487.6(ARSA):c.980-10C>T	410	ARSA	Likely benign	1486892120	RCV001404280;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064501	51064501	22:g.51064501G>A	-
NM_000487.6(ARSA):c.980-16A>G	410	ARSA	Likely benign	763589581	RCV002082370;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064507	51064507	51064507	-
NM_000487.6(ARSA):c.980-21_980-20delinsCT	410	ARSA	Uncertain significance	-1	RCV002994487;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064511	51064512	NC_000022.10:g.51064511_51064512delinsAG	-
NM_000487.6(ARSA):c.979+18C>T	410	ARSA	Likely benign	-1	RCV003081186;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064564	51064564	NC_000022.10:g.51064564G>A	-
NM_000487.6(ARSA):c.979+10C>T	410	ARSA	Likely benign	-1	RCV003068626;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064572	51064572	NC_000022.10:g.51064572G>A	-
NM_000487.6(ARSA):c.979+9G>A	410	ARSA	Likely benign	144915219	RCV001503662;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064573	51064573	51064573	-
NM_000487.6(ARSA):c.979+8C>T	410	ARSA	Conflicting interpretations of pathogenicity	746862304	RCV001329926;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064574	51064574	51064574	-
NM_000487.6(ARSA):c.978C>T (p.Pro326=)	410	ARSA	Uncertain significance	-1	RCV003087033;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064583	51064583		-
NM_000487.6(ARSA):c.973G>A (p.Ala325Thr)	410	ARSA	Uncertain significance	-1	RCV003066572;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064588	51064588	NC_000022.10:g.51064588C>T	-
NM_000487.6(ARSA):c.972C>T (p.Ile324=)	410	ARSA	Benign	200567315	RCV000873082;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064589	51064589	22:g.51064589G>A	-
NM_000487.6(ARSA):c.971T>C (p.Ile324Thr)	410	ARSA	Uncertain significance	1338627220	RCV001052408;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064590	51064590	22:g.51064590A>G	-
NM_000487.6(ARSA):c.970A>G (p.Ile324Val)	410	ARSA	Uncertain significance	557527090	RCV001943816;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064591	51064591	51064591	-
NM_000487.6(ARSA):c.967C>T (p.His323Tyr)	410	ARSA	Uncertain significance	920501988	RCV001952373;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064594	51064594	51064594	-
NM_000487.6(ARSA):c.963A>G (p.Pro321=)	410	ARSA	Likely benign	930585508	RCV002218230;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064598	51064598	51064598	-
NM_000487.6(ARSA):c.953C>T (p.Ala318Val)	410	ARSA	Uncertain significance	997702399	RCV001951629;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064608	51064608	51064608	-
NM_000487.6(ARSA):c.951G>A (p.Leu317=)	410	ARSA	Likely benign	-1	RCV003029273;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064610	51064610		-
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp)	410	ARSA	Uncertain significance	1569078754	RCV000785079\|RCV001090126;	N	MONDO:MONDO:0016828,MedGen:C4274077, Orphanet:260305\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064614	51064614	22:g.51064614G>T	-
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)	410	ARSA	Uncertain significance	199476368	RCV000058999\|RCV000665708;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064615	51064615	22:g.51064615C>T	ClinGen:CA219090,UniProtKB/Swiss-Prot:VAR_007276	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)	410	ARSA	Conflicting interpretations of pathogenicity	199476390	RCV000058998\|RCV001004415;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064619	51064619	22:g.51064619C>A	ClinGen:CA219088,UniProtKB/Swiss-Prot:VAR_054201	CN517202 not provided;
NM_000487.6(ARSA):c.942G>A (p.Glu314=)	410	ARSA	Likely benign	-1	RCV003080671;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064619	51064619		-
NM_000487.6(ARSA):c.938G>T (p.Arg313Leu)	410	ARSA	Uncertain significance	-1	RCV003123351;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064623	51064623	NC_000022.10:g.51064623C>A	-
NM_000487.6(ARSA):c.937C>A (p.Arg313=)	410	ARSA	Benign	551472773	RCV000940969;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064624	51064624	22:g.51064624G>T	-
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly)	410	ARSA	Conflicting interpretations of pathogenicity	551472773	RCV001980760;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064624	51064624	51064624	-
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	410	ARSA	Conflicting interpretations of pathogenicity	74315459	RCV000003206\|RCV000666302\|RCV000714802\|RCV001813940\|RCV002286693;	N	MONDO:MONDO:0017729,MedGen:C0751278, Orphanet:309256\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C1855255\|Human Phenotype Ontology:HP:0000707,Human Phenotype Ontology:HP:0001333,Human Phenotype Ontology:HP:0006987,MONDO:MONDO:0002	22	51064630	51064630	22:g.51064630C>T	ClinGen:CA115967,OMIM:607574.0011	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.930C>T (p.Gly310=)	410	ARSA	Conflicting interpretations of pathogenicity	767751622	RCV000282325\|RCV002059187;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064631	51064631	22:g.51064631G>A	ClinGen:CA10324871	CN169374 not specified;
NM_000487.6(ARSA):c.927G>A (p.Glu309=)	410	ARSA	Likely benign	775875051	RCV001424063;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064634	51064634	51064634	-
NM_000487.6(ARSA):c.924C>T (p.Tyr308=)	410	ARSA	Likely benign	753927253	RCV001405319;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064637	51064637	51064637	-
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)	410	ARSA	Conflicting interpretations of pathogenicity	199476379	RCV000058993\|RCV000670369;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064639	51064639	22:g.51064639A>G	ClinGen:CA219078,UniProtKB/Swiss-Prot:VAR_054198	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.918G>A (p.Thr306=)	410	ARSA	Conflicting interpretations of pathogenicity	370250328	RCV000306878\|RCV001078705;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064643	51064643	22:g.51064643C>T	ClinGen:CA10324877	CN169374 not specified;
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	410	ARSA	Conflicting interpretations of pathogenicity	199476359	RCV000058991\|RCV000578460;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064644	51064644	22:g.51064644G>A	ClinGen:CA219074,UniProtKB/Swiss-Prot:VAR_067416	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.913G>A (p.Gly305Arg)	410	ARSA	Uncertain significance	2146720596	RCV001915264;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064648	51064648	51064648	-
NM_000487.6(ARSA):c.909A>G (p.Gly303=)	410	ARSA	Likely benign	2146720606	RCV002117464;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064652	51064652	51064652	-
NM_000487.6(ARSA):c.902G>A (p.Arg301Gln)	410	ARSA	Uncertain significance	573456864	RCV000688435;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064659	51064659	NC_000022.10:g.51064659C>T	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly)	410	ARSA	Conflicting interpretations of pathogenicity	794727704	RCV000178780\|RCV000691986;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064660	51064660	22:g.51064660G>C	ClinGen:CA245949	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp)	410	ARSA	Conflicting interpretations of pathogenicity	794727704	RCV001353058\|RCV002547576;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51064660	51064660	51064660	-
NM_000487.6(ARSA):c.900G>A (p.Leu300=)	410	ARSA	Likely benign	540600192	RCV000941654;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064661	51064661	22:g.51064661C>T	-
NM_000487.6(ARSA):c.891C>T (p.Ser297=)	410	ARSA	Conflicting interpretations of pathogenicity	770536697	RCV001498448;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064670	51064670	51064670	-
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)	410	ARSA	Uncertain significance	199476387	RCV000058986\|RCV001150625;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064677	51064677	22:g.51064677C>T	ClinGen:CA219066,UniProtKB/Swiss-Prot:VAR_054193	CN517202 not provided;
NM_000487.6(ARSA):c.874_883del (p.Ser292fs)	410	ARSA	Uncertain significance	2082666231	RCV001255703;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064678	51064687	22:g.51064678_51064687del	-
NM_000487.6(ARSA):c.882C>T (p.Gly294=)	410	ARSA	Likely benign	772592144	RCV001976855;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064679	51064679	51064679	-
NM_000487.6(ARSA):c.878G>A (p.Arg293Gln)	410	ARSA	Uncertain significance	373866455	RCV001892816;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064683	51064683	51064683	-
NM_000487.6(ARSA):c.870T>C (p.Arg290=)	410	ARSA	Likely benign	-1	RCV003060365;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064691	51064691		-
NM_000487.6(ARSA):c.867G>A (p.Met289Ile)	410	ARSA	Uncertain significance	761919002	RCV000704107;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064694	51064694	22:g.51064694C>T	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.864C>G (p.Thr288=)	410	ARSA	Likely benign	1184775418	RCV001396822;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064697	51064697	51064697	-
NM_000487.6(ARSA):c.861G>A (p.Glu287=)	410	ARSA	Likely benign	2146720925	RCV002084003;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064700	51064700	51064700	-
NM_000487.6(ARSA):c.858T>C (p.Pro286=)	410	ARSA	Likely benign	370962514	RCV001406679;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064703	51064703	51064703	-
NM_000487.6(ARSA):c.855-3C>T	410	ARSA	Uncertain significance	1338786023	RCV001974598;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064709	51064709	51064709	-
NM_000487.6(ARSA):c.855-4C>T	410	ARSA	Likely benign	767436029	RCV001502027;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064710	51064710	51064710	-
NM_000487.6(ARSA):c.855-16G>A	410	ARSA	Likely benign	777610879	RCV002097873;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064722	51064722	51064722	-
NM_000487.6(ARSA):c.855-20dup	410	ARSA	Likely benign	-1	RCV003091961;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064725	51064726	NC_000022.10:g.51064726dup	-
NM_000487.6(ARSA):c.855-19A>G	410	ARSA	Likely benign	-1	RCV002575700;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51064725	51064725	NC_000022.10:g.51064725T>C	-
NM_000487.6(ARSA):c.854+17G>C	410	ARSA	Likely benign	-1	RCV003068432;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065002	51065002	NC_000022.10:g.51065002C>G	-
NM_000487.6(ARSA):c.854+14G>A	410	ARSA	Likely benign	-1	RCV002650522;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065005	51065005	NC_000022.10:g.51065005C>T	-
NM_000487.6(ARSA):c.854+9G>A	410	ARSA	Likely benign	1349278805	RCV002138884;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065010	51065010	51065010	-
NM_000487.6(ARSA):c.854G>A (p.Gly285Glu)	410	ARSA	Uncertain significance	-1	RCV002590182;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065019	51065019	NC_000022.10:g.51065019C>T	-
NM_000487.6(ARSA):c.849C>T (p.Asp283=)	410	ARSA	Likely benign	2146722002	RCV001466005;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065024	51065024	51065024	-
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)	410	ARSA	Conflicting interpretations of pathogenicity	199476386	RCV000058982\|RCV000668155;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065026	51065026	22:g.51065026C>A	ClinGen:CA219058,UniProtKB/Swiss-Prot:VAR_054189	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.837C>T (p.Ile279=)	410	ARSA	Likely benign	-1	RCV003036745;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065036	51065036		-
NM_000487.6(ARSA):c.829C>T (p.Leu277=)	410	ARSA	Likely benign	2082673382	RCV001497001;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065044	51065044	51065044	-
NM_000487.6(ARSA):c.828G>A (p.Thr276=)	410	ARSA	Likely benign	370585019	RCV000938790;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065045	51065045	22:g.51065045C>T	-
NM_000487.6(ARSA):c.825G>T (p.Glu275Asp)	410	ARSA	Uncertain significance	907795869	RCV001246742\|RCV003246812;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51065048	51065048	22:g.51065048C>A	-
NM_000487.6(ARSA):c.823G>C (p.Glu275Gln)	410	ARSA	Uncertain significance	-1	RCV002908822;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065050	51065050	NC_000022.10:g.51065050C>G	-
NM_000487.6(ARSA):c.823G>A (p.Glu275Lys)	410	ARSA	Uncertain significance	-1	RCV002979566;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065050	51065050	NC_000022.10:g.51065050C>T	-
NM_000487.6(ARSA):c.820G>A (p.Glu274Lys)	410	ARSA	Uncertain significance	-1	RCV002610918\|RCV003377891;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51065053	51065053	NC_000022.10:g.51065053C>T	-
NM_000487.6(ARSA):c.818T>C (p.Leu273Pro)	410	ARSA	Uncertain significance	-1	RCV002303292;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065055	51065055	51065055	-
NM_000487.6(ARSA):c.814C>T (p.Leu272=)	410	ARSA	Likely benign	780463755	RCV001428131;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065059	51065059	51065059	-
NM_000487.6(ARSA):c.804G>A (p.Gly268=)	410	ARSA	Likely benign	2146722165	RCV001407614;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065069	51065069	51065069	-
NM_000487.6(ARSA):c.802G>A (p.Gly268Arg)	410	ARSA	Uncertain significance	1404723529	RCV001914136;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065071	51065071	51065071	-
NM_000487.6(ARSA):c.800T>C (p.Ile267Thr)	410	ARSA	Uncertain significance	-1	RCV002611285;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065073	51065073	NC_000022.10:g.51065073A>G	-
NM_000487.6(ARSA):c.789G>C (p.Leu263=)	410	ARSA	Likely benign	-1	RCV003083160;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065084	51065084		-
NM_000487.6(ARSA):c.782G>A (p.Gly261Glu)	410	ARSA	Uncertain significance	-1	RCV002917478;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065091	51065091	NC_000022.10:g.51065091C>T	-
NM_000487.6(ARSA):c.781G>A (p.Gly261Arg)	410	ARSA	Uncertain significance	138850940	RCV001226279;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065092	51065092	22:g.51065092C>T	-
NM_000487.6(ARSA):c.780G>A (p.Val260=)	410	ARSA	Likely benign	-1	RCV002801676;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065093	51065093		-
NM_000487.6(ARSA):c.778G>T (p.Val260Leu)	410	ARSA	Uncertain significance	2082674602	RCV001150626;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065095	51065095	22:g.51065095C>A	-
NM_000487.6(ARSA):c.768G>A (p.Leu256=)	410	ARSA	Likely benign	2146722333	RCV002076613;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065105	51065105	51065105	-
NM_000487.6(ARSA):c.765G>C (p.Glu255Asp)	410	ARSA	Uncertain significance	-1	RCV003052681;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065108	51065108	NC_000022.10:g.51065108C>G	-
NM_000487.6(ARSA):c.761T>C (p.Met254Thr)	410	ARSA	Uncertain significance	1200786946	RCV001895179;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065112	51065112	51065112	-
NM_000487.6(ARSA):c.759G>A (p.Leu253=)	410	ARSA	Likely benign	1249616269	RCV002155564;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065114	51065114	51065114	-
NM_000487.6(ARSA):c.756C>T (p.Ser252=)	410	ARSA	Likely benign	2146722384	RCV002171385;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065117	51065117	51065117	-
NM_000487.6(ARSA):c.750G>A (p.Gly250=)	410	ARSA	Likely benign	2146722402	RCV001469160;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065123	51065123	51065123	-
NM_000487.6(ARSA):c.741G>A (p.Gly247=)	410	ARSA	Likely benign	1174838208	RCV001456089;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065132	51065132	51065132	-
NM_000487.6(ARSA):c.738C>T (p.Arg246=)	410	ARSA	Likely benign	1477964459	RCV001482005;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065135	51065135	51065135	-
NM_000487.6(ARSA):c.735C>T (p.Gly245=)	410	ARSA	Likely benign	2146722479	RCV002083116;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065138	51065138	51065138	-
NM_000487.6(ARSA):c.729T>C (p.Arg243=)	410	ARSA	Likely benign	1407610322	RCV002215550;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065144	51065144	51065144	-
NM_000487.6(ARSA):c.728G>A (p.Arg243His)	410	ARSA	Uncertain significance	142142638	RCV001150627;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065145	51065145	22:g.51065145C>T	-
NM_000487.6(ARSA):c.727C>T (p.Arg243Cys)	410	ARSA	Uncertain significance	369593442	RCV001899117;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065146	51065146	51065146	-
NM_000487.6(ARSA):c.725A>G (p.Glu242Gly)	410	ARSA	Uncertain significance	1403824251	RCV001888978;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065148	51065148	51065148	-
NM_000487.6(ARSA):c.724G>A (p.Glu242Lys)	410	ARSA	Uncertain significance	757891932	RCV002023618;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065149	51065149	51065149	-
NM_000487.6(ARSA):c.723A>G (p.Ala241=)	410	ARSA	Likely benign	765934724	RCV001463829;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065150	51065150	51065150	-
NM_000487.6(ARSA):c.717C>T (p.Ser239=)	410	ARSA	Likely benign	2146722590	RCV001443279;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065156	51065156	51065156	-
NM_000487.6(ARSA):c.708T>C (p.Ser236=)	410	ARSA	Likely benign	2146722657	RCV001402218;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065165	51065165	51065165	-
NM_000487.6(ARSA):c.705C>T (p.Phe235=)	410	ARSA	Likely benign	371985225	RCV001427051;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065168	51065168	51065168	-
NM_000487.6(ARSA):c.700C>G (p.Gln234Glu)	410	ARSA	Uncertain significance	2082676249	RCV001991704;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065173	51065173	51065173	-
NM_000487.6(ARSA):c.699T>C (p.Pro233=)	410	ARSA	Likely benign	2082676297	RCV001461866;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065174	51065174	51065174	-
NM_000487.6(ARSA):c.698C>G (p.Pro233Arg)	410	ARSA	Uncertain significance	-1	RCV002631353;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065175	51065175	NC_000022.10:g.51065175G>C	-
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr)	410	ARSA	Uncertain significance	74315469	RCV000003218\|RCV003387714;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374	22	51065176	51065176	22:g.51065176G>T	ClinGen:CA278032,OMIM:607574.0024	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.696C>T (p.Tyr232=)	410	ARSA	Likely benign	1603444965	RCV001491499;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065177	51065177	22:g.51065177G>A	-
NM_000487.6(ARSA):c.693C>T (p.His231=)	410	ARSA	Likely benign	-1	RCV003031361;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065180	51065180		-
NM_000487.6(ARSA):c.687C>T (p.His229=)	410	ARSA	Likely benign	2146722747	RCV002083402;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065186	51065186	51065186	-
NM_000487.6(ARSA):c.685-4C>T	410	ARSA	Likely benign	2082676664	RCV002177186;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065192	51065192	51065192	-
NM_000487.6(ARSA):c.685-5C>T	410	ARSA	Likely benign	2146722799	RCV002211695;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065193	51065193	51065193	-
NM_000487.6(ARSA):c.685-6C>T	410	ARSA	Likely benign	-1	RCV002628406;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065194	51065194	NC_000022.10:g.51065194G>A	-
NM_000487.6(ARSA):c.684+33C>T	410	ARSA	Benign/Likely benign	6151416	RCV001527488\|RCV001615227;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065229	51065229	51065229	-
NM_000487.6(ARSA):c.684+15C>T	410	ARSA	Likely benign	-1	RCV002857682;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065247	51065247	NC_000022.10:g.51065247G>A	-
NM_000487.6(ARSA):c.684+9T>A	410	ARSA	Likely benign	-1	RCV002815058;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065253	51065253	NC_000022.10:g.51065253A>T	-
NM_000487.6(ARSA):c.684+7G>A	410	ARSA	Uncertain significance	1161167884	RCV001279640;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065255	51065255	22:g.51065255C>T	-
NM_000487.6(ARSA):c.684+2dup	410	ARSA	Uncertain significance	1555900843	RCV000673398;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065259	51065260	22:g.51065259_51065260insA	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.684C>T (p.His228=)	410	ARSA	Uncertain significance	762695598	RCV001559157;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065262	51065262	51065262	-
NM_000487.6(ARSA):c.681T>C (p.Ser227=)	410	ARSA	Likely benign	-1	RCV002839471;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065265	51065265		-
NM_000487.6(ARSA):c.680C>G (p.Ser227Cys)	410	ARSA	Uncertain significance	138468395	RCV001962680\|RCV002561554;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51065266	51065266	51065266	-
NM_000487.6(ARSA):c.678C>T (p.Ala226=)	410	ARSA	Likely benign	1205000954	RCV001447310;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065268	51065268	51065268	-
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)	410	ARSA	Conflicting interpretations of pathogenicity	74315468	RCV000003217\|RCV000343115;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065269	51065269	22:g.51065269G>A	ClinGen:CA278030,OMIM:607574.0023	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)	410	ARSA	Conflicting interpretations of pathogenicity	527640350	RCV000496179;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065272	51065272	NC_000022.10:g.51065272T>C	ClinGen:CA10324950	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.663C>T (p.Phe221=)	410	ARSA	Conflicting interpretations of pathogenicity	754484249	RCV000359843;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065283	51065283	NC_000022.10:g.51065283G>A	ClinGen:CA10324951	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.662T>C (p.Phe221Ser)	410	ARSA	Uncertain significance	2146723107	RCV001888514;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065284	51065284	51065284	-
NM_000487.6(ARSA):c.661T>A (p.Phe221Ile)	410	ARSA	Uncertain significance	-1	RCV003388803;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065285	51065285		-
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)	410	ARSA	Conflicting interpretations of pathogenicity	201251634	RCV000301678;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065287	51065287	NC_000022.10:g.51065287G>A	ClinGen:CA10324952	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.658C>A (p.Pro220Thr)	410	ARSA	Uncertain significance	-1	RCV002994252;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065288	51065288	NC_000022.10:g.51065288G>T	-
NM_000487.6(ARSA):c.657C>T (p.Arg219=)	410	ARSA	Likely benign	756533260	RCV001483640;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065289	51065289	51065289	-
NM_000487.6(ARSA):c.656G>A (p.Arg219His)	410	ARSA	Uncertain significance	148403406	RCV000177070\|RCV002222426\|RCV002517709;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065290	51065290	22:g.51065290C>T	ClinGen:CA243177	CN169374 not specified;
NM_000487.6(ARSA):c.646C>T (p.Arg216Cys)	410	ARSA	Uncertain significance	-1	RCV002947708\|RCV002947709;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51065300	51065300	NC_000022.10:g.51065300G>A	-
NM_000487.6(ARSA):c.645G>A (p.Gln215=)	410	ARSA	Likely benign	757515500	RCV002170037;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065301	51065301	51065301	-
NM_000487.6(ARSA):c.642C>T (p.Ala214=)	410	ARSA	Likely benign	372713506	RCV002137186;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065304	51065304	51065304	-
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)	410	ARSA	Conflicting interpretations of pathogenicity	199476341	RCV000177069\|RCV002517708;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065306	51065306	22:g.51065306C>T	ClinGen:CA243175	CN169374 not specified;
NM_000487.6(ARSA):c.639C>T (p.Asp213=)	410	ARSA	Likely benign	1266367694	RCV001474320;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065307	51065307	51065307	-
NM_000487.6(ARSA):c.637G>A (p.Asp213Asn)	410	ARSA	Uncertain significance	369786038	RCV001592543\|RCV001827543;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065309	51065309	51065309	-
NM_000487.6(ARSA):c.636C>T (p.Ala212=)	410	ARSA	Benign/Likely benign	200182983	RCV000078950\|RCV000871089\|RCV001310817;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065310	51065310	22:g.51065310G>A	ClinGen:CA146677	CN169374 not specified;
NM_000487.6(ARSA):c.636C>G (p.Ala212=)	410	ARSA	Likely benign	200182983	RCV002207062;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065310	51065310	51065310	-
NM_000487.6(ARSA):c.635C>G (p.Ala212Gly)	410	ARSA	Uncertain significance	-1	RCV002800296;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065311	51065311	NC_000022.10:g.51065311G>C	-
NM_000487.6(ARSA):c.633G>A (p.Met211Ile)	410	ARSA	Conflicting interpretations of pathogenicity	773059458	RCV001620225\|RCV001866259;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065313	51065313	51065313	-
NM_000487.6(ARSA):c.629T>A (p.Leu210His)	410	ARSA	Uncertain significance	762593908	RCV001922205;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065317	51065317	51065317	-
NM_000487.6(ARSA):c.624T>C (p.His208=)	410	ARSA	Benign/Likely benign	113990230	RCV000247255\|RCV000365831\|RCV002057364;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065322	51065322	22:g.51065322A>G	ClinGen:CA10324963	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.621C>T (p.Ala207=)	410	ARSA	Likely benign	2146723331	RCV001414002;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065325	51065325	51065325	-
NM_000487.6(ARSA):c.620C>T (p.Ala207Val)	410	ARSA	Uncertain significance	759098239	RCV001921287;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065326	51065326	51065326	-
NM_000487.6(ARSA):c.619G>A (p.Ala207Thr)	410	ARSA	Uncertain significance	-1	RCV003106708;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065327	51065327	NC_000022.10:g.51065327C>T	-
NM_000487.6(ARSA):c.618C>T (p.Phe206=)	410	ARSA	Likely benign	370296376	RCV000675750\|RCV001439988;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065328	51065328	22:g.51065328G>A	-	CN517202 not provided;
NM_000487.6(ARSA):c.610A>G (p.Met204Val)	410	ARSA	Uncertain significance	1569080377	RCV000693679\|RCV002284428;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065336	51065336	NC_000022.10:g.51065336T>C	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.605G>A (p.Arg202His)	410	ARSA	Uncertain significance	201794808	RCV002225950\|RCV001967480\|RCV003167333;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51065341	51065341	51065341	-
NM_000487.6(ARSA):c.604C>T (p.Arg202Cys)	410	ARSA	Uncertain significance	374482942	RCV000667546\|RCV001766441;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51065342	51065342	22:g.51065342G>A	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.603C>A (p.Ala201=)	410	ARSA	Likely benign	2082680250	RCV001439778;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065343	51065343	51065343	-
NM_000487.6(ARSA):c.601G>T (p.Ala201Ser)	410	ARSA	Uncertain significance	377625311	RCV001927136;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065345	51065345	51065345	-
NM_000487.6(ARSA):c.598G>A (p.Glu200Lys)	410	ARSA	Benign	776156197	RCV000496139;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065348	51065348	22:g.51065348C>T	ClinGen:CA412177371	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.595C>T (p.Leu199=)	410	ARSA	Likely benign	-1	RCV002802214;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065351	51065351		-
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)	410	ARSA	Conflicting interpretations of pathogenicity	144393886	RCV001059607\|RCV002553864;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51065354	51065354	22:g.51065354C>T	-
NM_000487.6(ARSA):c.591C>T (p.Pro197=)	410	ARSA	Likely benign	34457249	RCV001440752;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065355	51065355	22:g.51065355G>A	-
NM_000487.6(ARSA):c.588G>A (p.Leu196=)	410	ARSA	Likely benign	758643108	RCV000919361;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065358	51065358	22:g.51065358C>T	-
NM_000487.6(ARSA):c.588G>T (p.Leu196=)	410	ARSA	Likely benign	758643108	RCV001448992;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065358	51065358	51065358	-
NM_000487.6(ARSA):c.586C>T (p.Leu196=)	410	ARSA	Likely benign	-1	RCV002741659;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065360	51065360		-
NM_000487.6(ARSA):c.585G>T (p.Trp195Cys)	410	ARSA	Benign	6151415	RCV000078949\|RCV000271273\|RCV000675751\|RCV001276282;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|Human Phenotype Ontology:HP:0032397,MONDO:MONDO:0015991,MedGen:C0175683, Orphanet:187	22	51065361	51065361	22:g.51065361C>A	ClinGen:CA146675	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.582C>T (p.Pro194=)	410	ARSA	Likely benign	372532763	RCV000978858;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065364	51065364	22:g.51065364G>A	-
NM_000487.6(ARSA):c.577C>T (p.Pro193Ser)	410	ARSA	Uncertain significance	-1	RCV002298975;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065369	51065369	51065369	-
NM_000487.6(ARSA):c.573G>A (p.Ala191=)	410	ARSA	Likely benign	376834935	RCV001488511;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065373	51065373	51065373	-
NM_000487.6(ARSA):c.571G>A (p.Ala191Thr)	410	ARSA	Uncertain significance	2146723680	RCV002001569;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065375	51065375	51065375	-
NM_000487.6(ARSA):c.570G>A (p.Glu190=)	410	ARSA	Likely benign	-1	RCV003047642;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065376	51065376		-
NM_000487.6(ARSA):c.568G>C (p.Glu190Gln)	410	ARSA	Uncertain significance	-1	RCV002637927;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065378	51065378	NC_000022.10:g.51065378C>G	-
NM_000487.6(ARSA):c.565G>A (p.Val189Met)	410	ARSA	Uncertain significance	-1	RCV003100240\|RCV003274233\|RCV003388151;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123\|MedGen:CN169374	22	51065381	51065381	NC_000022.10:g.51065381C>T	-
NM_000487.6(ARSA):c.564C>T (p.Ser188=)	410	ARSA	Likely benign	113209108	RCV000873116;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065382	51065382	22:g.51065382G>A	-
NM_000487.6(ARSA):c.562T>G (p.Ser188Ala)	410	ARSA	Uncertain significance	1428555439	RCV001962316;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065384	51065384	51065384	-
NM_000487.6(ARSA):c.561G>A (p.Leu187=)	410	ARSA	Likely benign	2082681709	RCV001458871;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065385	51065385	51065385	-
NM_000487.6(ARSA):c.558C>T (p.Asn186=)	410	ARSA	Benign	574416131	RCV000891071\|RCV001729737;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065388	51065388	22:g.51065388G>A	-
NM_000487.6(ARSA):c.558C>A (p.Asn186Lys)	410	ARSA	Uncertain significance	-1	RCV003002281;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065388	51065388	NC_000022.10:g.51065388G>T	-
NM_000487.6(ARSA):c.550T>C (p.Leu184=)	410	ARSA	Likely benign	760091071	RCV002154160;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065396	51065396	51065396	-
NM_000487.6(ARSA):c.545C>A (p.Pro182Gln)	410	ARSA	Uncertain significance	-1	RCV003337755;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065401	51065401		-
NM_000487.6(ARSA):c.543C>T (p.Ile181=)	410	ARSA	Likely benign	2146723907	RCV002178639;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065403	51065403	51065403	-
NM_000487.6(ARSA):c.540C>A (p.Pro180=)	410	ARSA	Likely benign	2146723960	RCV002141690;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065406	51065406	51065406	-
NM_000487.6(ARSA):c.537C>T (p.Val179=)	410	ARSA	Likely benign	2146723980	RCV001506850;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065409	51065409	51065409	-
NM_000487.6(ARSA):c.535G>A (p.Val179Ile)	410	ARSA	Uncertain significance	-1	RCV002791134;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065411	51065411	NC_000022.10:g.51065411C>T	-
NM_000487.6(ARSA):c.531C>A (p.Gly177=)	410	ARSA	Likely benign	-1	RCV002961970;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065415	51065415		-
NM_000487.6(ARSA):c.530G>A (p.Gly177Asp)	410	ARSA	Likely benign	556812341	RCV000902725;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065416	51065416	22:g.51065416C>T	-
NM_000487.6(ARSA):c.518G>A (p.Gly173Asp)	410	ARSA	Uncertain significance	-1	RCV002816471;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065428	51065428	NC_000022.10:g.51065428C>T	-
NM_000487.6(ARSA):c.514G>A (p.Gly172Ser)	410	ARSA	Uncertain significance	74315271	RCV000672054;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065432	51065432	22:g.51065432C>T	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.513C>T (p.Asp171=)	410	ARSA	Likely benign	758695969	RCV001425367;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065433	51065433	51065433	-
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	410	ARSA	Conflicting interpretations of pathogenicity	74315466	RCV000003215\|RCV000540770\|RCV001251908\|RCV002265546;	N	MedGen:C4017091\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|Human Phenotype Ontology:HP:0000730,Human Phenotype Ontology:HP:0001249,Human Phenotype Ontology:HP:0001267,Human Phenotype Ontology:HP:0001286,Human Phenotype Ontology:HP:0002	22	51065435	51065435	22:g.51065435C>T	ClinGen:CA115981,OMIM:607574.0021	C4017091 Arylsulfatase A pseudodeficiency;
NM_000487.6(ARSA):c.511G>T (p.Asp171Tyr)	410	ARSA	Uncertain significance	74315466	RCV001881993;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065435	51065435	51065435	-
NM_000487.6(ARSA):c.510C>T (p.Cys170=)	410	ARSA	Likely benign	1483727422	RCV000978192;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065436	51065436	22:g.51065436G>A	-
NM_000487.6(ARSA):c.501C>T (p.Ala167=)	410	ARSA	Likely benign	-1	RCV002881337;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065445	51065445		-
NM_000487.6(ARSA):c.499G>T (p.Ala167Ser)	410	ARSA	Uncertain significance	578188411	RCV000807563;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065447	51065447	22:g.51065447C>A	-
NM_000487.6(ARSA):c.498G>A (p.Pro166=)	410	ARSA	Uncertain significance	-1	RCV003093429;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065448	51065448		-
NM_000487.6(ARSA):c.495G>A (p.Pro165=)	410	ARSA	Benign/Likely benign	145299072	RCV001144537\|RCV001253878\|RCV001700979;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|MedGen:CN169374	22	51065451	51065451	22:g.51065451C>T	-
NM_000487.6(ARSA):c.495G>T (p.Pro165=)	410	ARSA	Likely benign	145299072	RCV001409729\|RCV002265994;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374	22	51065451	51065451	51065451	-
NM_000487.6(ARSA):c.492C>T (p.Phe164=)	410	ARSA	Likely benign	745605987	RCV001418717;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065454	51065454	51065454	-
NM_000487.6(ARSA):c.492C>G (p.Phe164Leu)	410	ARSA	Uncertain significance	745605987	RCV001948328\|RCV002560605;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51065454	51065454	51065454	-
NM_000487.6(ARSA):c.489C>T (p.Cys163=)	410	ARSA	Likely benign	771770056	RCV001407307;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065457	51065457	51065457	-
NM_000487.6(ARSA):c.488G>A (p.Cys163Tyr)	410	ARSA	Uncertain significance	1430695346	RCV001036546;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065458	51065458	22:g.51065458C>T	-
NM_000487.6(ARSA):c.485C>G (p.Thr162Ser)	410	ARSA	Uncertain significance	-1	RCV002909952;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065461	51065461	NC_000022.10:g.51065461G>C	-
NM_000487.6(ARSA):c.484A>G (p.Thr162Ala)	410	ARSA	Uncertain significance	-1	RCV003016974;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065462	51065462	NC_000022.10:g.51065462T>C	-
NM_000487.6(ARSA):c.477G>A (p.Gln159=)	410	ARSA	Likely benign	-1	RCV003043611;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065469	51065469		-
NM_000487.6(ARSA):c.473G>C (p.Cys158Ser)	410	ARSA	Uncertain significance	1226689808	RCV001327795;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065473	51065473	51065473	-
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)	410	ARSA	Conflicting interpretations of pathogenicity	74315464	RCV000058968\|RCV000778670;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065476	51065476	22:g.51065476G>A	ClinGen:CA219030,UniProtKB/Swiss-Prot:VAR_054177	CN517202 not provided;
NM_000487.6(ARSA):c.466-5C>T	410	ARSA	Likely benign	2146724391	RCV002090221;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065485	51065485	51065485	-
NM_000487.6(ARSA):c.466-7G>C	410	ARSA	Conflicting interpretations of pathogenicity	6151414	RCV000487951\|RCV001083981;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065487	51065487	22:g.51065487C>G	ClinGen:CA10325001	CN517202 not provided;
NM_000487.6(ARSA):c.466-7G>A	410	ARSA	Likely benign	6151414	RCV001465092;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065487	51065487	51065487	-
NM_000487.6(ARSA):c.466-8C>T	410	ARSA	Likely benign	765768453	RCV001437220;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065488	51065488	51065488	-
NM_000487.6(ARSA):c.466-8C>G	410	ARSA	Likely benign	765768453	RCV001497135;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065488	51065488	51065488	-
NM_000487.6(ARSA):c.466-18G>A	410	ARSA	Likely benign	542689643	RCV000252078\|RCV002057363;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065498	51065498	22:g.51065498C>T	ClinGen:CA10325006	CN169374 not specified;
NM_000487.6(ARSA):c.466-19C>T	410	ARSA	Likely benign	371570415	RCV002100809;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065499	51065499	51065499	-
NM_000487.6(ARSA):c.466-19C>A	410	ARSA	Likely benign	-1	RCV002638027;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065499	51065499	NC_000022.10:g.51065499G>T	-
NM_000487.6(ARSA):c.465+19C>T	410	ARSA	Likely benign	-1	RCV002857866;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065575	51065575	NC_000022.10:g.51065575G>A	-
NM_000487.6(ARSA):c.465+17_465+18insT	410	ARSA	Likely benign	-1	RCV003078082;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065576	51065577	NC_000022.10:g.51065576_51065577insA	-
NM_000487.6(ARSA):c.465+17C>T	410	ARSA	Likely benign	-1	RCV003093276;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065577	51065577	NC_000022.10:g.51065577G>A	-
NM_000487.6(ARSA):c.465+14G>A	410	ARSA	Likely benign	766679286	RCV002080499;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065580	51065580	51065580	-
NM_000487.6(ARSA):c.465+13C>T	410	ARSA	Likely benign	199767625	RCV002087691;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065581	51065581	51065581	-
NM_000487.6(ARSA):c.465+12C>T	410	ARSA	Likely benign	-1	RCV002610881;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065582	51065582	NC_000022.10:g.51065582G>A	-
NM_000487.6(ARSA):c.465+10A>C	410	ARSA	Likely benign	-1	RCV003005718;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065584	51065584	NC_000022.10:g.51065584T>G	-
NM_000487.6(ARSA):c.465+9C>T	410	ARSA	Likely benign	767722314	RCV001490360;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065585	51065585	51065585	-
NM_000487.6(ARSA):c.465+8C>A	410	ARSA	Likely benign	2146724934	RCV002120557;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065586	51065586	51065586	-
NM_000487.6(ARSA):c.465+8C>T	410	ARSA	Likely benign	2146724934	RCV002147598;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065586	51065586	51065586	-
NM_000487.6(ARSA):c.465+5G>A	410	ARSA	Uncertain significance	752777806	RCV002003793;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065589	51065589	51065589	-
NM_000487.6(ARSA):c.465+3A>G	410	ARSA	Uncertain significance	2082686619	RCV001321529;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065591	51065591	51065591	-
NM_000487.6(ARSA):c.465G>A (p.Gln155=)	410	ARSA	Conflicting interpretations of pathogenicity	199476377	RCV000152793\|RCV001582624\|RCV001850084;	N	MedGen:CN517202\|MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065594	51065594	22:g.51065594C>T	ClinGen:CA233477	CN169374 not specified;
NM_000487.6(ARSA):c.460G>A (p.Asp154Asn)	410	ARSA	Uncertain significance	199476365	RCV001920743;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065599	51065599	51065599	-
NM_000487.6(ARSA):c.460G>C (p.Asp154His)	410	ARSA	Uncertain significance	-1	RCV002627640;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065599	51065599	NC_000022.10:g.51065599C>G	-
NM_000487.6(ARSA):c.459C>T (p.His153=)	410	ARSA	Benign	6151412	RCV000078946\|RCV000325800\|RCV000675752\|RCV001276283;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|Human Phenotype Ontology:HP:0032397,MONDO:MONDO:0015991,MedGen:C0175683, Orphanet:187	22	51065600	51065600	22:g.51065600G>A	ClinGen:CA146673	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.455C>G (p.Ser152Cys)	410	ARSA	Uncertain significance	-1	RCV002705559;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065604	51065604	NC_000022.10:g.51065604G>C	-
NM_000487.6(ARSA):c.454T>A (p.Ser152Thr)	410	ARSA	Uncertain significance	-1	RCV003117149;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065605	51065605	NC_000022.10:g.51065605A>T	-
NM_000487.6(ARSA):c.450G>A (p.Pro150=)	410	ARSA	Likely benign	1199634827	RCV002118384;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065609	51065609	51065609	-
NM_000487.6(ARSA):c.448C>T (p.Pro150Ser)	410	ARSA	Uncertain significance	1569081077	RCV001917446;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065611	51065611	51065611	-
NM_000487.6(ARSA):c.446T>C (p.Ile149Thr)	410	ARSA	Uncertain significance	-1	RCV002620940;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065613	51065613	NC_000022.10:g.51065613A>G	-
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)	410	ARSA	Conflicting interpretations of pathogenicity	551548107	RCV001144538;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065625	51065625	22:g.51065625C>T	-
NM_000487.6(ARSA):c.429C>T (p.Phe143=)	410	ARSA	Likely benign	777372143	RCV001426780;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065630	51065630	51065630	-
NM_000487.6(ARSA):c.424G>A (p.Gly142Ser)	410	ARSA	Uncertain significance	2146725322	RCV001904542;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065635	51065635	51065635	-
NM_000487.6(ARSA):c.419A>T (p.His140Leu)	410	ARSA	Uncertain significance	2082687894	RCV001238944;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065640	51065640	22:g.51065640T>A	-
NM_000487.6(ARSA):c.418C>G (p.His140Asp)	410	ARSA	Conflicting interpretations of pathogenicity	199476358	RCV000058963\|RCV000667286;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065641	51065641	22:g.51065641G>C	ClinGen:CA219020,UniProtKB/Swiss-Prot:VAR_067415	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.417C>A (p.Pro139=)	410	ARSA	Likely benign	375898040	RCV001415849;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065642	51065642	51065642	-
NM_000487.6(ARSA):c.417C>T (p.Pro139=)	410	ARSA	Likely benign	375898040	RCV001503756;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065642	51065642	51065642	-
NM_000487.6(ARSA):c.417C>G (p.Pro139=)	410	ARSA	Likely benign	375898040	RCV001480596;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065642	51065642	51065642	-
NM_000487.6(ARSA):c.414C>G (p.Pro138=)	410	ARSA	Likely benign	912206675	RCV000980925;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065645	51065645	22:g.51065645G>C	-
NM_000487.6(ARSA):c.414C>T (p.Pro138=)	410	ARSA	Likely benign	912206675	RCV001411179;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065645	51065645	51065645	-
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)	410	ARSA	Conflicting interpretations of pathogenicity	74315462	RCV000003210\|RCV000675081;	N	MedGen:C4017094\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065646	51065646	22:g.51065646G>A	ClinGen:CA115977,OMIM:607574.0016	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.398_409del (p.Glu133_Leu137delinsVal)	410	ARSA	Uncertain significance	1555901024	RCV000673706;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065650	51065661	22:g.51065650_51065661del	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.409C>T (p.Leu137=)	410	ARSA	Likely benign	2146725581	RCV001485002;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065650	51065650	51065650	-
NM_000487.6(ARSA):c.394C>T (p.Pro132Ser)	410	ARSA	Uncertain significance	-1	RCV003051945;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065665	51065665	NC_000022.10:g.51065665G>A	-
NM_000487.6(ARSA):c.393G>A (p.Gly131=)	410	ARSA	Likely benign	2146725697	RCV001433522;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065666	51065666	51065666	-
NM_000487.6(ARSA):c.392G>A (p.Gly131Glu)	410	ARSA	Uncertain significance	1336260427	RCV001905445;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065667	51065667	51065667	-
NM_000487.6(ARSA):c.388G>A (p.Val130Met)	410	ARSA	Uncertain significance	-1	RCV002996029;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065671	51065671	NC_000022.10:g.51065671C>T	-
NM_000487.6(ARSA):c.387G>C (p.Gly129=)	410	ARSA	Likely benign	764180051	RCV002212805;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065672	51065672	51065672	-
NM_000487.6(ARSA):c.386G>A (p.Gly129Glu)	410	ARSA	Uncertain significance	-1	RCV003047254;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065673	51065673	NC_000022.10:g.51065673C>T	-
NM_000487.6(ARSA):c.369_374delinsAACCTTGGG (p.Gly124_Lys125delinsThrLeuGly)	410	ARSA	Conflicting interpretations of pathogenicity	786200965	RCV000152794\|RCV000761490;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065685	51065690	NC_000022.10:g.51065685_51065690delinsCCCAAGGTT	ClinGen:CA233479
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)	410	ARSA	Conflicting interpretations of pathogenicity	74315461	RCV000003209\|RCV000078945\|RCV000623394\|RCV003415633;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123\|	22	51065689	51065689	22:g.51065689C>T	ClinGen:CA220987,OMIM:607574.0015	C0950123 Inborn genetic diseases;
NM_000487.6(ARSA):c.370G>T (p.Gly124Cys)	410	ARSA	Uncertain significance	74315461	RCV002016655;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065689	51065689	51065689	-
NM_000487.6(ARSA):c.369C>T (p.Ala123=)	410	ARSA	Conflicting interpretations of pathogenicity	886057657	RCV000389729;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065690	51065690	NC_000022.10:g.51065690G>A	ClinGen:CA10653701	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.363A>G (p.Gly121=)	410	ARSA	Likely benign	766279046	RCV002080216;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065696	51065696	51065696	-
NM_000487.6(ARSA):c.355C>G (p.Leu119Val)	410	ARSA	Uncertain significance	1569081347	RCV000803498;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065704	51065704	22:g.51065704G>C	-
NM_000487.6(ARSA):c.350G>A (p.Gly117Asp)	410	ARSA	Uncertain significance	1433109241	RCV002261650\|RCV003095885;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065709	51065709	51065709	-
NM_000487.6(ARSA):c.349G>A (p.Gly117Ser)	410	ARSA	Uncertain significance	2146725948	RCV002003786;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065710	51065710	51065710	-
NM_000487.6(ARSA):c.347G>A (p.Arg116Gln)	410	ARSA	Uncertain significance	754795152	RCV002012247;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065712	51065712	51065712	-
NM_000487.6(ARSA):c.345C>G (p.Ala115=)	410	ARSA	Likely benign	943706810	RCV000980926;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065714	51065714	22:g.51065714G>C	-
NM_000487.6(ARSA):c.343G>A (p.Ala115Thr)	410	ARSA	Uncertain significance	1421381874	RCV001063277;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065716	51065716	22:g.51065716C>T	-
NM_000487.6(ARSA):c.339G>T (p.Leu113=)	410	ARSA	Likely benign	755790890	RCV002119221;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065720	51065720	51065720	-
NM_000487.6(ARSA):c.339G>A (p.Leu113=)	410	ARSA	Likely benign	-1	RCV002667600;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065720	51065720		-
NM_000487.6(ARSA):c.337C>T (p.Leu113=)	410	ARSA	Likely benign	-1	RCV002658676;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065722	51065722		-
NM_000487.6(ARSA):c.336C>T (p.Val112=)	410	ARSA	Likely benign	2146726026	RCV001417218;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065723	51065723	51065723	-
NM_000487.6(ARSA):c.330C>T (p.Ala110=)	410	ARSA	Likely benign	976328696	RCV002156507;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065729	51065729	51065729	-
NM_000487.6(ARSA):c.329C>T (p.Ala110Val)	410	ARSA	Uncertain significance	1191014984	RCV000598543\|RCV001232558;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065730	51065730	22:g.51065730G>A	ClinGen:CA412181138	CN169374 not specified;
NM_000487.6(ARSA):c.327G>A (p.Val109=)	410	ARSA	Likely benign	779471096	RCV000981273;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065732	51065732	22:g.51065732C>T	-
NM_000487.6(ARSA):c.325G>A (p.Val109Met)	410	ARSA	Uncertain significance	746259972	RCV000416118\|RCV001224892\|RCV002521481;	N	MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	22	51065734	51065734	22:g.51065734C>T	ClinGen:CA10325054	CN517202 not provided;
NM_000487.6(ARSA):c.324C>T (p.Thr108=)	410	ARSA	Likely benign	772461835	RCV001469006;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065735	51065735	51065735	-
NM_000487.6(ARSA):c.323C>T (p.Thr108Ile)	410	ARSA	Uncertain significance	-1	RCV003075658;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065736	51065736	NC_000022.10:g.51065736G>A	-
NM_000487.6(ARSA):c.318G>A (p.Glu106=)	410	ARSA	Likely benign	775782217	RCV001428456;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065741	51065741	51065741	-
NM_000487.6(ARSA):c.310C>T (p.Leu104=)	410	ARSA	Likely benign	2146726140	RCV002109795;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065749	51065749	51065749	-
NM_000487.6(ARSA):c.309C>T (p.Pro103=)	410	ARSA	Likely benign	760915508	RCV000981613;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065750	51065750	22:g.51065750G>A	-
NM_000487.6(ARSA):c.308C>G (p.Pro103Arg)	410	ARSA	Uncertain significance	-1	RCV002938739;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065751	51065751	NC_000022.10:g.51065751G>C	-
NM_000487.6(ARSA):c.306G>T (p.Leu102=)	410	ARSA	Likely benign	768799536	RCV001407024;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065753	51065753	51065753	-
NM_000487.6(ARSA):c.300G>T (p.Gly100=)	410	ARSA	Likely benign	1270135893	RCV001460606;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065759	51065759	51065759	-
NM_000487.6(ARSA):c.300G>C (p.Gly100=)	410	ARSA	Likely benign	1270135893	RCV002185654;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065759	51065759	51065759	-
NM_000487.6(ARSA):c.300G>A (p.Gly100=)	410	ARSA	Likely benign	-1	RCV002852077;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065759	51065759		-
NM_000487.6(ARSA):c.297G>C (p.Arg99=)	410	ARSA	Likely benign	1024546326	RCV000978172;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065762	51065762	22:g.51065762C>G	-
NM_000487.6(ARSA):c.297G>A (p.Arg99=)	410	ARSA	Likely benign	1024546326	RCV002164878;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065762	51065762	51065762	-
NM_000487.6(ARSA):c.296G>A (p.Arg99Gln)	410	ARSA	Uncertain significance	759295985	RCV001146459;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065763	51065763	22:g.51065763C>T	-
NM_000487.6(ARSA):c.296G>C (p.Arg99Pro)	410	ARSA	Uncertain significance	759295985	RCV001239938;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065763	51065763	22:g.51065763C>G	-
NM_000487.6(ARSA):c.296G>T (p.Arg99Leu)	410	ARSA	Uncertain significance	759295985	RCV001937318;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065763	51065763	51065763	-
NM_000487.6(ARSA):c.295C>T (p.Arg99Trp)	410	ARSA	Uncertain significance	-1	RCV002903751;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065764	51065764	NC_000022.10:g.51065764G>A	-
NM_000487.6(ARSA):c.294C>G (p.Ser98=)	410	ARSA	Likely benign	1217286631	RCV001487767;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065765	51065765	51065765	-
NM_000487.6(ARSA):c.291C>T (p.Ser97=)	410	ARSA	Likely benign	2082691792	RCV001480205;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065768	51065768	51065768	-
NM_000487.6(ARSA):c.279C>T (p.Val93=)	410	ARSA	Conflicting interpretations of pathogenicity	756760904	RCV001478188;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065780	51065780	22:g.51065780G>A	-
NM_000487.6(ARSA):c.278T>G (p.Val93Gly)	410	ARSA	Uncertain significance	2146726476	RCV001984321;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065781	51065781	51065781	-
NM_000487.6(ARSA):c.276C>T (p.Gly92=)	410	ARSA	Conflicting interpretations of pathogenicity	978006787	RCV001559153;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065783	51065783	51065783	-
NM_000487.6(ARSA):c.276C>A (p.Gly92=)	410	ARSA	Likely benign	-1	RCV002971274;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065783	51065783		-
NM_000487.6(ARSA):c.273T>G (p.Pro91=)	410	ARSA	Likely benign	758790900	RCV001490626;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065786	51065786	22:g.51065786A>C	-
NM_000487.6(ARSA):c.270C>T (p.Tyr90=)	410	ARSA	Likely benign	780399417	RCV002095193;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065789	51065789	51065789	-
NM_000487.6(ARSA):c.264C>G (p.Gly88=)	410	ARSA	Likely benign	-1	RCV002932867;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065795	51065795		-
NM_000487.6(ARSA):c.264C>T (p.Gly88=)	410	ARSA	Uncertain significance	-1	RCV003038417;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065795	51065795		-
NM_000487.6(ARSA):c.258G>T (p.Arg86=)	410	ARSA	Likely benign	-1	RCV002591345;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065801	51065801		-
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu)	410	ARSA	Uncertain significance	74315458	RCV000672928;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065802	51065802	22:g.51065802C>A	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)	410	ARSA	Conflicting interpretations of pathogenicity	199476352	RCV000058956\|RCV000409776\|RCV001090098;	N	MedGen:CN517202\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|Human Phenotype Ontology:HP:0002145,MONDO:MONDO:0017276,MedGen:C0338451,OMIM:600274, Orphanet:282	22	51065803	51065803	22:g.51065803G>A	ClinGen:CA219008,UniProtKB/Swiss-Prot:VAR_054169	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.252G>T (p.Pro84=)	410	ARSA	Likely benign	1469297825	RCV002158986;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065807	51065807	51065807	-
NM_000487.6(ARSA):c.252G>C (p.Pro84=)	410	ARSA	Likely benign	-1	RCV002832758;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065807	51065807		-
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)	410	ARSA	Conflicting interpretations of pathogenicity	6151411	RCV000672436;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065808	51065808	22:g.51065808G>A	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.251C>G (p.Pro84Arg)	410	ARSA	Uncertain significance	-1	RCV002801671;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065808	51065808	NC_000022.10:g.51065808G>C	-
NM_000487.6(ARSA):c.247C>T (p.Leu83Phe)	410	ARSA	Uncertain significance	1603445008	RCV000802259;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065812	51065812	22:g.51065812G>A	-
NM_000487.6(ARSA):c.243C>T (p.Gly81=)	410	ARSA	Benign	6151410	RCV000262492\|RCV000276455\|RCV000675753;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065816	51065816	22:g.51065816G>A	ClinGen:CA10325077	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.242G>C (p.Gly81Ala)	410	ARSA	Uncertain significance	1389990700	RCV002033184;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065817	51065817	51065817	-
NM_000487.6(ARSA):c.240C>T (p.Thr80=)	410	ARSA	Likely benign	767509086	RCV001472091;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065819	51065819	51065819	-
NM_000487.6(ARSA):c.237G>A (p.Leu79=)	410	ARSA	Likely benign	775487397	RCV002150481;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065822	51065822	51065822	-
NM_000487.6(ARSA):c.234C>T (p.Leu78=)	410	ARSA	Likely benign	1158352334	RCV002086044;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065825	51065825	51065825	-
NM_000487.6(ARSA):c.231_232delinsTT (p.Leu78Phe)	410	ARSA	Uncertain significance	1603445011	RCV000791549;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065827	51065828	NC_000022.10:g.51065827_51065828delinsAA	-
NM_000487.6(ARSA):c.231C>G (p.Ala77=)	410	ARSA	Likely benign	-1	RCV003036715;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065828	51065828		-
NM_000487.6(ARSA):c.229G>T (p.Ala77Ser)	410	ARSA	Uncertain significance	763880042	RCV001926309\|RCV002508328;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51065830	51065830	51065830	-
NM_000487.6(ARSA):c.228C>T (p.Ala76=)	410	ARSA	Likely benign	371930403	RCV000908014;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065831	51065831	22:g.51065831G>A	-
NM_000487.6(ARSA):c.225-3C>G	410	ARSA	Uncertain significance	756812838	RCV001915077;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065837	51065837	51065837	-
NM_000487.6(ARSA):c.225-4G>A	410	ARSA	Conflicting interpretations of pathogenicity	372937480	RCV001146460;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065838	51065838	22:g.51065838C>T	-
NM_000487.6(ARSA):c.225-4G>T	410	ARSA	Likely benign	372937480	RCV002107531;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065838	51065838	51065838	-
NM_000487.6(ARSA):c.225-5C>T	410	ARSA	Conflicting interpretations of pathogenicity	192013394	RCV000331507;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065839	51065839	NC_000022.10:g.51065839G>A	ClinGen:CA10325086	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.225-9G>A	410	ARSA	Likely benign	914940978	RCV001422166;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065843	51065843	51065843	-
NM_000487.6(ARSA):c.225-12C>T	410	ARSA	Likely benign	-1	RCV003058274;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065846	51065846	NC_000022.10:g.51065846G>A	-
NM_000487.6(ARSA):c.225-15_225-14del	410	ARSA	Likely benign	-1	RCV002819264;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065848	51065849	NC_000022.10:g.51065848CA[1]	-
NM_000487.6(ARSA):c.225-15T>C	410	ARSA	Uncertain significance	-1	RCV002605716;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065849	51065849	NC_000022.10:g.51065849A>G	-
NM_000487.6(ARSA):c.225-17T>C	410	ARSA	Likely benign	1019791612	RCV002141928;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065851	51065851	51065851	-
NM_000487.6(ARSA):c.224+16C>A	410	ARSA	Likely benign	2146727447	RCV002200010;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065968	51065968	51065968	-
NM_000487.6(ARSA):c.224+12del	410	ARSA	Benign	775260029	RCV002118099;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065972	51065972	51065971	-
NM_000487.6(ARSA):c.224+10G>C	410	ARSA	Likely benign	1603445022	RCV000928623;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065974	51065974	22:g.51065974C>G	-
NM_000487.6(ARSA):c.224+10G>A	410	ARSA	Likely benign	1603445022	RCV002121674;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065974	51065974	51065974	-
NM_000487.6(ARSA):c.224+8G>A	410	ARSA	Likely benign	775536824	RCV000526785;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065976	51065976	22:g.51065976C>T	ClinGen:CA10325101	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.222T>C (p.Ser74=)	410	ARSA	Likely benign	760597265	RCV001450281;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065986	51065986	22:g.51065986A>G	-
NM_000487.6(ARSA):c.221C>G (p.Ser74Cys)	410	ARSA	Uncertain significance	2146727534	RCV002038209;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065987	51065987	51065987	-
NM_000487.6(ARSA):c.210G>A (p.Leu70=)	410	ARSA	Likely benign	776251854	RCV001435653;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51065998	51065998	51065998	-
NM_000487.6(ARSA):c.205T>C (p.Ser69Pro)	410	ARSA	Uncertain significance	2146727641	RCV002018334;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066003	51066003	51066003	-
NM_000487.6(ARSA):c.200C>T (p.Pro67Leu)	410	ARSA	Uncertain significance	765558965	RCV001979782;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066008	51066008	51066008	-
NM_000487.6(ARSA):c.198G>C (p.Val66=)	410	ARSA	Likely benign	-1	RCV003114160;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066010	51066010		-
NM_000487.6(ARSA):c.196G>A (p.Val66Met)	410	ARSA	Uncertain significance	-1	RCV002640149;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066012	51066012	NC_000022.10:g.51066012C>T	-
NM_000487.6(ARSA):c.195C>T (p.Tyr65=)	410	ARSA	Likely benign	764737103	RCV001975160;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066013	51066013	51066013	-
NM_000487.6(ARSA):c.190T>A (p.Phe64Ile)	410	ARSA	Uncertain significance	2082698085	RCV001250795;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066018	51066018	22:g.51066018A>T	-
NM_000487.6(ARSA):c.189C>T (p.Asp63=)	410	ARSA	Likely benign	-1	RCV003106748;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066019	51066019		-
NM_000487.6(ARSA):c.186A>G (p.Thr62=)	410	ARSA	Likely benign	2082698171	RCV002092343;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066022	51066022	51066022	-
NM_000487.6(ARSA):c.179G>C (p.Arg60Pro)	410	ARSA	Conflicting interpretations of pathogenicity	750005732	RCV001172247\|RCV001759675;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202	22	51066029	51066029	22:g.51066029C>G	-
NM_000487.6(ARSA):c.176T>C (p.Leu59Pro)	410	ARSA	Uncertain significance	-1	RCV003038433;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066032	51066032	NC_000022.10:g.51066032A>G	-
NM_000487.6(ARSA):c.173G>T (p.Gly58Val)	410	ARSA	Uncertain significance	2082698425	RCV002018548;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066035	51066035	51066035	-
NM_000487.6(ARSA):c.169G>A (p.Gly57Arg)	410	ARSA	Uncertain significance	-1	RCV002914480;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066039	51066039	NC_000022.10:g.51066039C>T	-
NM_000487.6(ARSA):c.168G>C (p.Ala56=)	410	ARSA	Likely benign	2146727921	RCV002072648;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066040	51066040	51066040	-
NM_000487.6(ARSA):c.165G>A (p.Ala55=)	410	ARSA	Likely benign	1009808245	RCV002085465;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066043	51066043	51066043	-
NM_000487.6(ARSA):c.156C>T (p.Asp52=)	410	ARSA	Likely benign	2082699054	RCV002206466;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066052	51066052	51066052	-
NM_000487.6(ARSA):c.154G>A (p.Asp52Asn)	410	ARSA	Uncertain significance	2146728012	RCV002002042;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066054	51066054	51066054	-
NM_000487.6(ARSA):c.151C>G (p.Leu51Val)	410	ARSA	Uncertain significance	1348625953	RCV001146461;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066057	51066057	22:g.51066057G>C	-
NM_000487.6(ARSA):c.147C>T (p.Pro49=)	410	ARSA	Likely benign	1439293576	RCV002112256;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066061	51066061	51066061	-
NM_000487.6(ARSA):c.141C>G (p.Thr47=)	410	ARSA	Likely benign	2146728088	RCV002207887;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066067	51066067	51066067	-
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg)	410	ARSA	Uncertain significance	375493957	RCV000671583\|RCV000780861\|RCV001756138;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374\|MedGen:CN517202	22	51066073	51066073	22:g.51066073G>T	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.134G>C (p.Ser45Thr)	410	ARSA	Uncertain significance	867624246	RCV002017561;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066074	51066074	51066074	-
NM_000487.6(ARSA):c.131C>T (p.Pro44Leu)	410	ARSA	Uncertain significance	1340814173	RCV001901482;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066077	51066077	51066077	-
NM_000487.6(ARSA):c.130C>A (p.Pro44Thr)	410	ARSA	Uncertain significance	-1	RCV002829667;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066078	51066078	NC_000022.10:g.51066078G>T	-
NM_000487.6(ARSA):c.109_126dup (p.Asp37_Gly42dup)	410	ARSA	Uncertain significance	1555901139	RCV000672365;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066081	51066082	22:g.51066081_51066082insCCCATAGCAGCCCAGGTC	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.116G>A (p.Gly39Asp)	410	ARSA	Uncertain significance	-1	RCV003074893;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066092	51066092	NC_000022.10:g.51066092C>T	-
NM_000487.6(ARSA):c.107G>A (p.Gly36Glu)	410	ARSA	Uncertain significance	-1	RCV003153017;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066101	51066101		-
NM_000487.6(ARSA):c.105T>C (p.Tyr35=)	410	ARSA	Likely benign	2146728349	RCV001450810;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066103	51066103	51066103	-
NM_000487.6(ARSA):c.104A>G (p.Tyr35Cys)	410	ARSA	Uncertain significance	74315268	RCV001976848;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066104	51066104	51066104	-
NM_000487.6(ARSA):c.104A>T (p.Tyr35Phe)	410	ARSA	Uncertain significance	-1	RCV003043084;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066104	51066104	NC_000022.10:g.51066104T>A	-
NM_000487.6(ARSA):c.99C>T (p.Leu33=)	410	ARSA	Likely benign	2082700588	RCV001491721;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066109	51066109	51066109	-
NM_000487.6(ARSA):c.90C>T (p.Ala30=)	410	ARSA	Likely benign	1182299442	RCV002104582;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066118	51066118	51066118	-
NM_000487.6(ARSA):c.86T>C (p.Phe29Ser)	410	ARSA	Uncertain significance	2146728488	RCV001559154;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066122	51066122	51066122	-
NM_000487.6(ARSA):c.73A>G (p.Ile25Val)	410	ARSA	Uncertain significance	549154390	RCV001559156;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066135	51066135	51066135	-
NM_000487.6(ARSA):c.66G>A (p.Pro22=)	410	ARSA	Likely benign	752921449	RCV001444183;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066142	51066142	51066142	-
NM_000487.6(ARSA):c.66G>C (p.Pro22=)	410	ARSA	Likely benign	752921449	RCV001478719;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066142	51066142	51066142	-
NM_000487.6(ARSA):c.66G>T (p.Pro22=)	410	ARSA	Likely benign	752921449	RCV002176126;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066142	51066142	51066142	-
NM_000487.6(ARSA):c.57T>C (p.Val19=)	410	ARSA	Likely benign	1376355508	RCV001478741;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066151	51066151	51066151	-
NM_000487.6(ARSA):c.56T>C (p.Val19Ala)	410	ARSA	Uncertain significance	1235007867	RCV001919225;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066152	51066152	51066152	-
NM_000487.6(ARSA):c.54C>T (p.Ala18=)	410	ARSA	Likely benign	2146728830	RCV001411028;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066154	51066154	51066154	-
NM_000487.6(ARSA):c.49C>T (p.Leu17=)	410	ARSA	Likely benign	2146728877	RCV001445986;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066159	51066159	51066159	-
NM_000487.6(ARSA):c.42T>C (p.Ala14=)	410	ARSA	Likely benign	2146728922	RCV002073750;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066166	51066166	51066166	-
NM_000487.6(ARSA):c.40G>A (p.Ala14Thr)	410	ARSA	Likely benign	145157196	RCV001441692;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066168	51066168	22:g.51066168C>T	-
NM_000487.6(ARSA):c.38T>A (p.Leu13Gln)	410	ARSA	Uncertain significance	-1	RCV003050586;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066170	51066170	NC_000022.10:g.51066170A>T	-
NM_000487.6(ARSA):c.37C>T (p.Leu13=)	410	ARSA	Likely benign	-1	RCV002805628;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066171	51066171		-
NM_000487.6(ARSA):c.36C>T (p.Ala12=)	410	ARSA	Likely benign	-1	RCV002795821;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066172	51066172		-
NM_000487.6(ARSA):c.33G>T (p.Leu11=)	410	ARSA	Likely benign	2146728998	RCV001432026;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066175	51066175	51066175	-
NM_000487.6(ARSA):c.30C>T (p.Leu10=)	410	ARSA	Likely benign	1240234453	RCV001438104;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066178	51066178	51066178	-
NM_000487.6(ARSA):c.28C>G (p.Leu10Val)	410	ARSA	Uncertain significance	911532602	RCV001967460;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066180	51066180	51066180	-
NM_000487.6(ARSA):c.27C>T (p.Leu9=)	410	ARSA	Likely benign	944621208	RCV001490146;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066181	51066181	51066181	-
NM_000487.6(ARSA):c.25C>T (p.Leu9Phe)	410	ARSA	Uncertain significance	886057658	RCV000385983;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066183	51066183	NC_000022.10:g.51066183G>A	ClinGen:CA10645805	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.25C>A (p.Leu9Ile)	410	ARSA	Uncertain significance	-1	RCV002659682;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066183	51066183	NC_000022.10:g.51066183G>T	-
NM_000487.6(ARSA):c.21G>T (p.Arg7=)	410	ARSA	Likely benign	1336556041	RCV002194002;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066187	51066187	51066187	-
NM_000487.6(ARSA):c.17C>T (p.Pro6Leu)	410	ARSA	Uncertain significance	-1	RCV002714787;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066191	51066191	NC_000022.10:g.51066191G>A	-
NM_000487.6(ARSA):c.14C>T (p.Ala5Val)	410	ARSA	Uncertain significance	201315540	RCV001832837\|RCV001665208;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51066194	51066194	51066194	-
NM_000487.6(ARSA):c.13G>A (p.Ala5Thr)	410	ARSA	Uncertain significance	765893073	RCV001232945;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066195	51066195	22:g.51066195C>T	-
NM_000487.6(ARSA):c.12G>A (p.Gly4=)	410	ARSA	Likely benign	1160649029	RCV001461059;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066196	51066196	51066196	-
NM_000487.6(ARSA):c.10G>A (p.Gly4Arg)	410	ARSA	Uncertain significance	-1	RCV002603756;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066198	51066198	NC_000022.10:g.51066198C>T	-
NM_000487.6(ARSA):c.6C>T (p.Ser2=)	410	ARSA	Likely benign	1373055038	RCV001437312;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066202	51066202	22:g.51066202G>A	-
NM_000487.6(ARSA):c.-35_-8del	410	ARSA	Uncertain significance	759081183	RCV000669622;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066215	51066242	22:g.51066215_51066242del	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-15A>G	410	ARSA	Uncertain significance	909454884	RCV000666219;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066222	51066222	22:g.51066222T>C	-	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-16C>G	410	ARSA	Uncertain significance	2082703346	RCV001332800;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066223	51066223	51066223	-
NM_000487.6(ARSA):c.-20G>C	410	ARSA	Uncertain significance	886057659	RCV000282293;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066227	51066227	NC_000022.10:g.51066227C>G	ClinGen:CA10654225	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-88G>A	410	ARSA	Uncertain significance	562486733	RCV000337190;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066295	51066295	NC_000022.10:g.51066295C>T	ClinGen:CA10653708	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-131G>A	410	ARSA	Uncertain significance	551316995	RCV000373219;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066338	51066338	NC_000022.10:g.51066338C>T	ClinGen:CA10654226	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-136C>G	410	ARSA	Likely benign	6151408	RCV000279115\|RCV000607249;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN169374	22	51066343	51066343	NC_000022.10:g.51066343G>C	ClinGen:CA10645806	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-142G>A	410	ARSA	Uncertain significance	886057660	RCV000343434;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066349	51066349	22:g.51066349C>T	ClinGen:CA10651580	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-159C>T	410	ARSA	Uncertain significance	6151407	RCV000407161;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066366	51066366	22:g.51066366G>A	ClinGen:CA10654227	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-223G>T	410	ARSA	Uncertain significance	752129372	RCV001149234;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066430	51066430	22:g.51066430C>A	-
NM_000487.6(ARSA):c.-224C>G	410	ARSA	Uncertain significance	546035074	RCV000285046;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066431	51066431	22:g.51066431G>C	ClinGen:CA10653710	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-330C>T	410	ARSA	Uncertain significance	558023516	RCV000339802;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066537	51066537	22:g.51066537G>A	ClinGen:CA10653711	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-343C>T	410	ARSA	Uncertain significance	1028447908	RCV001149235;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066550	51066550	22:g.51066550G>A	-
NM_000487.6(ARSA):c.-345G>C	410	ARSA	Benign	6151406	RCV000407201\|RCV001594978;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	51066552	51066552	22:g.51066552C>G	ClinGen:CA10653712	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-355G>T	410	ARSA	Uncertain significance	886057661	RCV000309634;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066562	51066562	22:g.51066562C>A	ClinGen:CA10651581	C0023522 250100 Metachromatic leukodystrophy;
NM_000487.6(ARSA):c.-362G>C	410	ARSA	Uncertain significance	886057662	RCV000364277;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	22	51066569	51066569	NC_000022.10:g.51066569C>G	ClinGen:CA10645811	C0023522 250100 Metachromatic leukodystrophy;
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	411	ARSB	Pathogenic	118203943	RCV000000933\|RCV000078003\|RCV000779747;	N	MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200, Orphanet:583\|MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	5	78260300	78260300	5:g.78260300T>C	ClinGen:CA114609,UniProtKB:P15848#VAR_007300,OMIM:611542.0009	C0026709 253200 Mucopolysaccharidosis type VI;
NM_000046.5(ARSB):c.427del (p.Val143fs)	411	ARSB	Pathogenic	766914147	RCV000677561\|RCV000779748;	N	MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200, Orphanet:583\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	5	78264901	78264901	NC_000005.9:g.78264902del	-
NM_000046.5(ARSB):c.219_230delinsG (p.Asp73fs)	411	ARSB	Likely pathogenic	1561197425	RCV000779749;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	5	78280842	78280853	NC_000005.9:g.78280842_78280853delinsC	ClinVar:2626783,OMIM:611542.0007
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	411	ARSB	Conflicting interpretations of pathogenicity	118203941	RCV000000928\|RCV000179701\|RCV000723435\|RCV000779751;	N	MedGen:C4017253\|MONDO:MONDO:0009661,MedGen:C0026709,OMIM:253200, Orphanet:583\|MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	5	78077797	78077797	5:g.78077797C>T	ClinGen:CA114603,UniProtKB:P15848#VAR_007305,OMIM:611542.0004	C0026709 253200 Mucopolysaccharidosis type VI;
NM_022124.6(CDH23):c.9291G>T (p.Lys3097Asn)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	368441850	RCV000299495\|RCV000308492\|RCV000338320\|RCV000363140\|RCV000396018\|RCV000403032\|RCV000407582\|RCV001103168\|RCV001103169\|RCV002520624;	N	MedGen:CN239439\|MedGen:CN239218\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,	10	73571482	73571482	10:g.73571482G>T	ClinGen:CA5546966	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9319+11G>A	-1	CDH23;PSAP	Benign/Likely benign	11000013	RCV000039307\|RCV000265040\|RCV000305041\|RCV000301429\|RCV000312528\|RCV000359537\|RCV000405954\|RCV001105082\|RCV001105081\|RCV001523600;	N	MedGen:CN169374\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239218\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,	10	73571521	73571521	10:g.73571521G>A	ClinGen:CA137635	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)	-1	CDH23;PSAP	Benign/Likely benign	45583140	RCV000039308\|RCV000086979\|RCV000261040\|RCV000271717\|RCV000316294\|RCV000356182\|RCV000363966\|RCV000389375\|RCV001105085\|RCV001105086\|RCV001276927;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239439\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0010775	10	73571765	73571765	10:g.73571765T>C	ClinGen:CA137636	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9501G>A (p.Thr3167=)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	144906721	RCV000039310\|RCV000276340\|RCV000291787\|RCV000331531\|RCV000386012\|RCV000888298\|RCV001106213\|RCV001106214\|RCV001276928;	N	MedGen:CN169374\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:C3661900\|MONDO:MONDO:0011067	10	73572357	73572357	10:g.73572357G>A	ClinGen:CA137640	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9510+13C>T	-1	CDH23;PSAP	Benign/Likely benign	183692794	RCV000155615\|RCV000286477\|RCV000341426\|RCV000346745\|RCV000380976\|RCV001106215\|RCV001106216\|RCV001276930\|RCV001520244;	N	MedGen:CN169374\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239218\|MONDO:MONDO:0011067,MedGen:C1832394	10	73572379	73572379	10:g.73572379C>T	ClinGen:CA183141	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9510+19_9510+25del	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	149704197	RCV000119817\|RCV000301614\|RCV000337881\|RCV000396275\|RCV000402429\|RCV000604131\|RCV001276931\|RCV001523525;	N	MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067, Orphanet:231169, Orphanet:886\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239218\|MONDO:MONDO:0009499,MedGen:C0023521	10	73572382	73572388	10:g.73572382_73572388del	ClinGen:CA269907	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9629T>C (p.Ile3210Thr)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	144688588	RCV000155059\|RCV000298108\|RCV000277348\|RCV000313766\|RCV000317072\|RCV000353393\|RCV000371681\|RCV001241617\|RCV001276933\|RCV001526764;	N	MedGen:CN169374\|MedGen:CN239218\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orp	10	73572643	73572643	10:g.73572643T>C	ClinGen:CA182092	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9739-12G>A	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	200638595	RCV000273893\|RCV000282753\|RCV000328937\|RCV000347081\|RCV000368470\|RCV000383482\|RCV000407660\|RCV001103257\|RCV001103258\|RCV001505966;	N	MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239439\|MedGen:CN239218\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,	10	73574697	73574697	10:g.73574697G>A	ClinGen:CA5547169	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)	-1	CDH23;PSAP	Benign/Likely benign	140463385	RCV000039316\|RCV000270308\|RCV000285800\|RCV000325564\|RCV000380222\|RCV000889474\|RCV001103259\|RCV001103260\|RCV001276934;	N	MedGen:CN169374\|MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900\|MONDO:MONDO:0011067	10	73574728	73574728	10:g.73574728A>C	ClinGen:CA137647	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9799C>T (p.Arg3267Cys)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	201727938	RCV000282351\|RCV000307536\|RCV000337406\|RCV000340738\|RCV000352717\|RCV000376807\|RCV000403860\|RCV001103261\|RCV001103262\|RCV002520625;	N	MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239439\|MedGen:CN239218\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,	10	73574769	73574769	10:g.73574769C>T	ClinGen:CA5547178	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9860G>A (p.Gly3287Asp)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	562590210	RCV000263857\|RCV000298268\|RCV000313005\|RCV000350786\|RCV000367632\|RCV000404504\|RCV000406507\|RCV000612885\|RCV001105176\|RCV001105177\|RCV002051835\|RCV001833437\|RCV003165815;	N	MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MedGen:CN239218\|MedGen:CN239227\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239439\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023	10	73574830	73574830	10:g.73574830G>A	ClinGen:CA5547193	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)	-1	CDH23;PSAP	Benign/Likely benign	2290021	RCV000039317\|RCV000300347\|RCV000309875\|RCV000311112\|RCV000355079\|RCV000368018\|RCV000394283\|RCV001105178\|RCV001105179\|RCV001271954\|RCV001510618;	N	MedGen:CN169374\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239439\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,	10	73574843	73574843		ClinGen:CA137649
NM_022124.6(CDH23):c.9903C>T (p.Pro3301=)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	55717455	RCV000039318\|RCV000267313\|RCV000324862\|RCV000362216\|RCV000358601\|RCV000886795\|RCV001106300\|RCV001106299\|RCV001271956;	N	MedGen:CN169374\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239218\|MedGen:C3661900\|MONDO:MONDO:0011067	10	73574873	73574873		ClinGen:CA137651	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9942G>A (p.Thr3314=)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	376804660	RCV000260328\|RCV000266027\|RCV000279075\|RCV000319045\|RCV000324392\|RCV000375963\|RCV000378954\|RCV000603434\|RCV000898457\|RCV001106305\|RCV001106306\|RCV001272666;	N	MedGen:CN239439\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239218\|MedGen:CN239227\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0010775	10	73574912	73574912	10:g.73574912G>A	ClinGen:CA5547223	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)	-1	CDH23;PSAP	Benign/Likely benign	73277900	RCV000039319\|RCV000296257\|RCV000317831\|RCV000348937\|RCV000388265\|RCV000965145\|RCV001108524\|RCV001108523\|RCV001271957;	N	MedGen:CN169374\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239218\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:C3661900\|MONDO:MONDO:0010984	10	73574948	73574948	10:g.73574948C>T	ClinGen:CA137653	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.9983G>A (p.Arg3328His)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	148475933	RCV000290496\|RCV000347839\|RCV000405901\|RCV000402629\|RCV000613082\|RCV001108525\|RCV001053104\|RCV001108526\|RCV001271959;	N	MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN169374\|MONDO:MONDO:0010984,MedGen:C1832845	10	73574953	73574953	10:g.73574953G>A	ClinGen:CA5547234	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.10026C>T (p.Asp3342=)	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	377118941	RCV000155061\|RCV000290748\|RCV000301703\|RCV000308301\|RCV000360078\|RCV000345678\|RCV000381558\|RCV000395744\|RCV000902585\|RCV001108527\|RCV001108528\|RCV001826835;	N	MedGen:CN169374\|MedGen:CN239439\|MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MedGen:CN239227\|MONDO:MONDO:0009	10	73574996	73574996	10:g.73574996C>T	ClinGen:CA182096	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*68G>C	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	527311705	RCV000261585\|RCV000298093\|RCV000319096\|RCV000353004\|RCV000353011\|RCV000358885\|RCV000404597\|RCV001105267\|RCV001105266;	N	MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239439\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239227\|MedGen:CN239218\|MONDO:MONDO:0010775	10	73575103	73575103	10:g.73575103G>C	ClinGen:CA10628838	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*80G>A	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	75715348	RCV000260479\|RCV000292479\|RCV000332344\|RCV000389276\|RCV001105270\|RCV001105271;	N	MedGen:CN239218\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0011067,MedGen:C1832394,OMIM:601386,Orp	10	73575115	73575115	10:g.73575115G>A	ClinGen:CA10654460	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*104G>C	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	377312107	RCV000291512\|RCV000325433\|RCV000331077\|RCV000344023\|RCV000383526\|RCV000388243\|RCV001106399\|RCV001106400;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239439\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239218\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0010775,MedGen:C5779620	10	73575139	73575139	10:g.73575139G>C	ClinGen:CA10636104	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*141G>A	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	535544696	RCV000280807\|RCV000286901\|RCV000335794\|RCV000339517\|RCV000403587\|RCV000407781\|RCV000407452\|RCV001106401\|RCV001106402;	N	MedGen:CN239227\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239439\|MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0010775	10	73575176	73575176	10:g.73575176G>A	ClinGen:CA10636114	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*204A>G	-1	CDH23;PSAP	Benign/Likely benign	2290022	RCV000286621\|RCV000298356\|RCV000299894\|RCV000338493\|RCV000341473\|RCV000390678\|RCV001108607\|RCV001108606\|RCV001672430;	N	MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239439\|Med	10	73575239	73575239	10:g.73575239A>G	ClinGen:CA10636115	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*349A>G	-1	CDH23;PSAP	Benign/Likely benign	1867978	RCV000277087\|RCV000301787\|RCV000311190\|RCV000369416\|RCV000368083\|RCV000407454\|RCV001108611\|RCV001108610\|RCV001530530;	N	MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MedGen:CN239218\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|Med	10	73575384	73575384	10:g.73575384A>G	ClinGen:CA10632049	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*439C>T	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	140312023	RCV000312734\|RCV000314348\|RCV000352338\|RCV000403296\|RCV001106487\|RCV001106488;	N	MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orp	10	73575474	73575474	10:g.73575474C>T	ClinGen:CA10654461	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*478G>C	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	564392413	RCV000273164\|RCV000307212\|RCV000364174\|RCV000365100\|RCV001106489\|RCV001106490;	N	MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239218\|MONDO:MONDO:0010984,MedGen:C1832845,OMIM:601067,Orp	10	73575513	73575513	10:g.73575513G>C	ClinGen:CA10654462	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*510G>A	-1	CDH23;PSAP	Benign/Likely benign	1054635	RCV000261813\|RCV000267207\|RCV000274238\|RCV000320461\|RCV000320011\|RCV000377475\|RCV001108678\|RCV001108679\|RCV001683212;	N	MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239439\|MedGen:CN239218\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721,Orp	10	73575545	73575545	NC_000010.10:g.73575545G>A	ClinGen:CA10635729	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*515C>A	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	16929375	RCV000279258\|RCV000280245\|RCV000319279\|RCV000350653\|RCV000371463\|RCV000374819\|RCV001108680\|RCV001108681;	N	MedGen:CN239218\|MedGen:CN239439\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0010775,MedGen:C5779620	10	73575550	73575550	NC_000010.10:g.73575550C>A	ClinGen:CA10632052	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*588del	-1	CDH23;PSAP	Conflicting interpretations of pathogenicity	148667421	RCV000285698\|RCV000292556\|RCV000316739\|RCV000349779\|RCV000380623\|RCV000388913\|RCV000407274;	N	MedGen:CN239227\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239439\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200,	10	73575621	73575621	NC_000010.10:g.73575623del	ClinGen:CA10635730	CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1350+5G>A	-1	CDH23;PSAP	Benign/Likely benign	11000016	RCV000241705\|RCV000304444\|RCV000361450\|RCV000370757\|RCV000313723\|RCV000391848\|RCV000405067\|RCV000676140\|RCV001103806\|RCV001103807\|RCV001103808;	N	MedGen:CN169374\|MedGen:CN239439\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239218\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023	10	73579217	73579217	10:g.73579217C>T	ClinGen:CA5547393	CN239218 Atypical Gaucher Disease;
NC_000022.10:g.(?_50167881)_(51066207_?)del	-1	covers 33 genes, none of which curated to show dos	Pathogenic	-1	RCV003111291\|RCV003111290;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	22	50167881	51066207		-
NM_002778.4(PSAP):c.679_681del (p.Lys227del)	5660	PSAP	Pathogenic/Likely pathogenic	1431844269	RCV000755006\|RCV001528144\|RCV002307590\|RCV002477518\|RCV003420203;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406; MON	10	73587810	73587812	NC_000010.10:g.73587810_73587812del	-
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys)	5660	PSAP	Pathogenic	770171865	RCV001063288\|RCV001827403;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73587846	73587846	10:g.73587846G>T	-
NM_002778.4(PSAP):c.1A>G (p.Met1Val)	5660	PSAP	Pathogenic	121918106	RCV001066448\|RCV001833645;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73610978	73610978	10:g.73610978T>C	-
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)	5660	PSAP	Likely pathogenic	121918110	RCV000014301\|RCV003317034;	N	MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73579617	73579617	10:g.73579617A>G	ClinGen:CA123069,OMIM:176801.0012	C1864651 610539 Gaucher disease, atypical, due to saposin C deficiency;
NM_002778.4(PSAP):c.1557A>G (p.Lys519=)	5660	PSAP	Uncertain significance	751061015	RCV001280259;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73577216	73577216	10:g.73577216T>C	-
NM_002778.4(PSAP):c.1537A>G (p.Asn513Asp)	5660	PSAP	Uncertain significance	778904848	RCV001280260;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73578376	73578376	10:g.73578376T>C	-
NM_002778.4(PSAP):c.1495C>T (p.Pro499Ser)	5660	PSAP	Uncertain significance	143773764	RCV001280261\|RCV002541739\|RCV002542952;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MeSH:D030342,MedGen:C0950123	10	73578418	73578418	10:g.73578418G>A	-
NM_002778.4(PSAP):c.1432-3T>C	5660	PSAP	Uncertain significance	200577646	RCV001280262\|RCV002537886;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73578484	73578484	10:g.73578484A>G	-
NM_002778.4(PSAP):c.1422C>T (p.Phe474=)	5660	PSAP	Likely benign	528318545	RCV000891763\|RCV001280263\|RCV003413714;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	10	73578797	73578797	10:g.73578797G>A	-
NM_002778.4(PSAP):c.1389C>T (p.Ile463=)	5660	PSAP	Likely benign	762811199	RCV000918601\|RCV001825850;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73578830	73578830	10:g.73578830G>A	-
NM_002778.4(PSAP):c.1381G>A (p.Val461Met)	5660	PSAP	Uncertain significance	138716613	RCV001280264\|RCV001871599;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73578838	73578838	10:g.73578838C>T	-
NM_002778.4(PSAP):c.1374C>T (p.Tyr458=)	5660	PSAP	Likely benign	146925179	RCV000898102\|RCV001272669;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73578845	73578845	10:g.73578845G>A	-
NM_002778.4(PSAP):c.1341C>T (p.Tyr447=)	5660	PSAP	Likely benign	572916661	RCV001490194\|RCV001832639;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73579231	73579231	73579231	-
NM_002778.4(PSAP):c.1323C>G (p.Ser441Arg)	5660	PSAP	Uncertain significance	1419823465	RCV001280265\|RCV002541740;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73579249	73579249	10:g.73579249G>C	-
NM_002778.4(PSAP):c.1322G>A (p.Ser441Asn)	5660	PSAP	Uncertain significance	540436494	RCV001280266\|RCV001871600;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73579250	73579250	10:g.73579250C>T	-
NM_002778.4(PSAP):c.1294A>T (p.Ile432Phe)	5660	PSAP	Uncertain significance	532242066	RCV000701117\|RCV001830548\|RCV002462050;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	10	73579278	73579278	NC_000010.10:g.73579278T>A	-	C0268262 249900 Sphingolipid activator protein 1 deficiency;
NM_002778.4(PSAP):c.1281C>T (p.Ser427=)	5660	PSAP	Benign/Likely benign	529776324	RCV000925688\|RCV001272670\|RCV001579113\|RCV001579247;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406	10	73579291	73579291	10:g.73579291G>A	-
NM_002778.4(PSAP):c.1258G>A (p.Asp420Asn)	5660	PSAP	Uncertain significance	760621775	RCV000271167\|RCV000288610\|RCV000328597\|RCV000380910;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239218	10	73579314	73579314	10:g.73579314C>T	ClinGen:CA5547420	CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1233G>A (p.Val411=)	5660	PSAP	Likely benign	751867103	RCV001272672\|RCV001416264;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73579339	73579339	10:g.73579339C>T	-
NM_002778.4(PSAP):c.1196A>G (p.His399Arg)	5660	PSAP	Uncertain significance	756831806	RCV001280267;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73579376	73579376	10:g.73579376T>C	-
NM_002778.4(PSAP):c.1192G>A (p.Val398Ile)	5660	PSAP	Uncertain significance	759178813	RCV001280268\|RCV002480920\|RCV001871601;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355; MONDO:MONDO:0859183,MedGen:C5561969,OMIM:619491; MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487; MONDO:	10	73579471	73579471	10:g.73579471C>T	-
NM_002778.4(PSAP):c.1173G>A (p.Thr391=)	5660	PSAP	Likely benign	368085481	RCV001280269\|RCV001434507;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73579490	73579490	10:g.73579490C>T	-
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)	5660	PSAP	Conflicting interpretations of pathogenicity	573095617	RCV000943827\|RCV001107537\|RCV001107538\|RCV001272673\|RCV001107536;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355\|MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100,Orphan	10	73579517	73579517	10:g.73579517G>A	-
NM_002778.4(PSAP):c.1138C>T (p.Leu380=)	5660	PSAP	Likely benign	751199102	RCV001404726\|RCV001827101;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73579525	73579525	10:g.73579525G>A	-
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)	5660	PSAP	Conflicting interpretations of pathogenicity	754680319	RCV001280270\|RCV002537887\|RCV003355353;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MeSH:D030342,MedGen:C0950123	10	73579526	73579526	10:g.73579526C>G	-
NM_002778.4(PSAP):c.1122G>C (p.Glu374Asp)	5660	PSAP	Uncertain significance	775169672	RCV001240928\|RCV001828962;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73579541	73579541	10:g.73579541C>G	-
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)	5660	PSAP	Conflicting interpretations of pathogenicity	765744298	RCV001280271\|RCV001449850\|RCV002541741;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73579587	73579587	10:g.73579587T>G	-
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)	5660	PSAP	Conflicting interpretations of pathogenicity	138328594	RCV000264576\|RCV000303307\|RCV000304947\|RCV000361976\|RCV000973449\|RCV001103918\|RCV001103919;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239218\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp	10	73579607	73579607	10:g.73579607G>A	ClinGen:CA5547494	CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1018G>A (p.Asp340Asn)	5660	PSAP	Uncertain significance	759154767	RCV001280272\|RCV002537888;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73579645	73579645	10:g.73579645C>T	-
NM_002778.4(PSAP):c.1017C>T (p.Leu339=)	5660	PSAP	Likely benign	146778046	RCV000943030\|RCV001272674;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73579646	73579646	10:g.73579646G>A	-
NM_002778.4(PSAP):c.966G>A (p.Val322=)	5660	PSAP	Likely benign	139413990	RCV000928373\|RCV001272675;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73580036	73580036	10:g.73580036C>T	-
NM_002778.4(PSAP):c.916G>A (p.Glu306Lys)	5660	PSAP	Uncertain significance	1431665170	RCV001280273\|RCV002541742;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73580086	73580086	10:g.73580086C>T	-
NM_002778.4(PSAP):c.864C>T (p.Ala288=)	5660	PSAP	Likely benign	747491605	RCV000926233\|RCV001272676\|RCV003413728;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	10	73581678	73581678	10:g.73581678G>A	-
NM_002778.4(PSAP):c.855C>T (p.Ala285=)	5660	PSAP	Likely benign	1040901231	RCV000923352\|RCV001280274;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73581687	73581687	10:g.73581687G>A	-
NM_002778.4(PSAP):c.852C>T (p.Pro284=)	5660	PSAP	Likely benign	370435627	RCV000924634\|RCV001272677;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73581690	73581690	10:g.73581690G>A	-
NM_002778.4(PSAP):c.638G>A (p.Arg213Gln)	5660	PSAP	Uncertain significance	773913014	RCV000820422\|RCV001271963;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73587853	73587853	10:g.73587853C>T	-
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)	5660	PSAP	Conflicting interpretations of pathogenicity	200319381	RCV000514444\|RCV001081218\|RCV001272678;	N	MedGen:C3661900\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73587868	73587868	NC_000010.10:g.73587868A>C	ClinGen:CA5547714
NM_002778.4(PSAP):c.589G>A (p.Val197Ile)	5660	PSAP	Uncertain significance	191952316	RCV001280275\|RCV002542953;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73587902	73587902	10:g.73587902C>T	-
NM_002778.4(PSAP):c.588C>T (p.Asp196=)	5660	PSAP	Likely benign	374869360	RCV000924976\|RCV001815460\|RCV001825865;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MedGen:C3661900\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73587903	73587903	10:g.73587903G>A	-
NM_002778.4(PSAP):c.587A>G (p.Asp196Gly)	5660	PSAP	Uncertain significance	1842431098	RCV001280276;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73587904	73587904	10:g.73587904T>C	-
NM_002778.4(PSAP):c.578A>G (p.Asp193Gly)	5660	PSAP	Likely benign	138636858	RCV001280277\|RCV001354629\|RCV002069482;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN517202\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73587913	73587913	10:g.73587913T>C	-
NM_002778.4(PSAP):c.577G>C (p.Asp193His)	5660	PSAP	Uncertain significance	149305591	RCV001280278\|RCV001871602;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73587914	73587914	10:g.73587914C>G	-
NM_002778.4(PSAP):c.570G>A (p.Gln190=)	5660	PSAP	Likely benign	142272618	RCV000906856\|RCV001825825;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73588640	73588640	10:g.73588640C>T	-
NM_002778.4(PSAP):c.503T>C (p.Val168Ala)	5660	PSAP	Uncertain significance	773142808	RCV001280279\|RCV002542954;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MeSH:D030342,MedGen:C0950123	10	73588707	73588707	10:g.73588707A>G	-
NM_002778.4(PSAP):c.450C>A (p.His150Gln)	5660	PSAP	Uncertain significance	757752213	RCV000688161\|RCV001830492;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73588760	73588760	10:g.73588760G>T	-	C0268262 249900 Sphingolipid activator protein 1 deficiency;
NM_002778.4(PSAP):c.415G>A (p.Glu139Lys)	5660	PSAP	Uncertain significance	753606836	RCV000805765\|RCV001272679;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73588795	73588795	10:g.73588795C>T	-
NM_002778.4(PSAP):c.414C>T (p.Cys138=)	5660	PSAP	Likely benign	769564352	RCV001277788\|RCV001494927;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73588796	73588796	10:g.73588796G>A	-
NM_002778.4(PSAP):c.409C>G (p.Leu137Val)	5660	PSAP	Conflicting interpretations of pathogenicity	377027316	RCV000484673\|RCV001084808\|RCV001272680\|RCV001335064;	N	MedGen:CN517202\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406	10	73588801	73588801	10:g.73588801G>C	ClinGen:CA5547774	CN169374 not specified;
NM_002778.4(PSAP):c.379C>T (p.Arg127Cys)	5660	PSAP	Uncertain significance	148519599	RCV001277789\|RCV002493467\|RCV002537773\|RCV002537774;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355; MONDO:MONDO:0859183,MedGen:C5561969,OMIM:619491; MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487; MONDO:	10	73588831	73588831	10:g.73588831G>A	-
NM_002778.4(PSAP):c.370G>C (p.Glu124Gln)	5660	PSAP	Uncertain significance	770893932	RCV001277790\|RCV002542883;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73590888	73590888	10:g.73590888C>G	-
NM_002778.4(PSAP):c.239A>G (p.Asn80Ser)	5660	PSAP	Uncertain significance	570654892	RCV001277791\|RCV002542884;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73591613	73591613	10:g.73591613T>C	-
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)	5660	PSAP	Conflicting interpretations of pathogenicity	571773332	RCV000272506\|RCV000274090\|RCV000327586\|RCV000386828\|RCV002522167;	N	MedGen:CN239218\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900,Orp	10	73594136	73594136	NC_000010.10:g.73594136G>C	ClinGen:CA5547881	CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.161A>G (p.Asn54Ser)	5660	PSAP	Uncertain significance	539091862	RCV001297745\|RCV001835410;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73594142	73594142	73594142	-
NM_002778.4(PSAP):c.153C>T (p.Thr51=)	5660	PSAP	Likely benign	11555016	RCV000907141\|RCV001272681;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73594150	73594150	10:g.73594150G>A	-
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)	5660	PSAP	Conflicting interpretations of pathogenicity	558427025	RCV000513446\|RCV001088093\|RCV001829458;	N	MedGen:C3661900\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73594175	73594175	10:g.73594175C>T	ClinGen:CA5547892	CN517202 not provided;
NM_002778.4(PSAP):c.127G>A (p.Gly43Arg)	5660	PSAP	Uncertain significance	554592821	RCV001277792\|RCV002537775;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73594176	73594176	10:g.73594176C>T	-
NM_002778.4(PSAP):c.120C>T (p.Ser40=)	5660	PSAP	Benign/Likely benign	141231601	RCV000961169\|RCV001832208\|RCV003413758;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	10	73594183	73594183	10:g.73594183G>A	-
NM_002778.4(PSAP):c.117G>A (p.Ala39=)	5660	PSAP	Likely benign	200836594	RCV000887576\|RCV001830942;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73594186	73594186	10:g.73594186C>T	-
NM_002778.4(PSAP):c.67A>G (p.Lys23Glu)	5660	PSAP	Uncertain significance	143016278	RCV001277793\|RCV002504393;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012517,MedGen:C1864651,OMIM:610539, Orphanet:309252, Orphanet:355; MONDO:MONDO:0859183,MedGen:C5561969,OMIM:619491; MONDO:MONDO:0012720,MedGen:C2673266,OMIM:611722, Orphanet:487; MONDO:	10	73594236	73594236	10:g.73594236T>C	-
NM_002778.4(PSAP):c.41C>T (p.Ala14Val)	5660	PSAP	Uncertain significance	1842584616	RCV001277794;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73594262	73594262	10:g.73594262G>A	-
NM_002778.4(PSAP):c.41-17_41-9dup	5660	PSAP	Likely benign	768077397	RCV001277795\|RCV001483515;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73594270	73594271	10:g.73594270_73594271insAAAACCAAC	-
NM_002778.4(PSAP):c.26G>A (p.Ser9Asn)	5660	PSAP	Uncertain significance	746678274	RCV001277796;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73610953	73610953	10:g.73610953C>T	-
NM_002778.4(PSAP):c.16C>T (p.Leu6Phe)	5660	PSAP	Benign	148279196	RCV000974739\|RCV001272682;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73610963	73610963	10:g.73610963G>A	-
NM_002778.4(PSAP):c.10C>G (p.Leu4Val)	5660	PSAP	Conflicting interpretations of pathogenicity	574280149	RCV000512836\|RCV001087790\|RCV001834647;	N	MedGen:C3661900\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73610969	73610969	10:g.73610969G>C	ClinGen:CA5547944	CN517202 not provided;
NM_002778.4(PSAP):c.8C>G (p.Ala3Gly)	5660	PSAP	Uncertain significance	969229358	RCV001277797\|RCV002537776;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512	10	73610971	73610971	10:g.73610971G>C	-
NM_002778.4(PSAP):c.6C>T (p.Tyr2=)	5660	PSAP	Likely benign	774482765	RCV000967851\|RCV001272683;	N	MONDO:MONDO:0009590,MedGen:C0268262,OMIM:249900, Orphanet:512\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73610973	73610973	10:g.73610973G>A	-
NM_002778.3(PSAP):c.-33T>C	5660	PSAP	Likely benign	143987544	RCV000294131\|RCV000351340\|RCV000386758\|RCV000398978;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239218	10	73611011	73611011	NC_000010.10:g.73611011A>G	ClinGen:CA5547962	CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-50G>T	5660	PSAP	Uncertain significance	886047154	RCV000278698\|RCV000301040\|RCV000336145\|RCV000399236;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487	10	73611028	73611028	NC_000010.10:g.73611028C>A	ClinGen:CA10632059	CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-56A>G	5660	PSAP	Uncertain significance	534586960	RCV000304421\|RCV000357989\|RCV000361509\|RCV000392509;	N	MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512	10	73611034	73611034	NC_000010.10:g.73611034T>C	ClinGen:CA10635760	CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-62A>G	5660	PSAP	Uncertain significance	886047155	RCV000272681\|RCV000269230\|RCV000326587\|RCV000364883;	N	MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239218	10	73611040	73611040	NC_000010.10:g.73611040T>C	ClinGen:CA10635761	CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-65C>T	5660	PSAP	Benign/Likely benign	145948209	RCV000294630\|RCV000329668\|RCV000333211\|RCV000386588\|RCV002285306;	N	MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239218\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:C3661900	10	73611043	73611043	10:g.73611043G>A	ClinGen:CA10628878	CN239218 Atypical Gaucher Disease;
NM_002778.3(PSAP):c.-99T>G	5660	PSAP	Uncertain significance	886047156	RCV000279433\|RCV000336843\|RCV000371619\|RCV000375131;	N	MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487	10	73611077	73611077	10:g.73611077A>C	ClinGen:CA10628880	CN239218 Atypical Gaucher Disease;
NM_001042465.2(PSAP):c.-118G>A	5660	PSAP	Likely benign	28365838	RCV000259641\|RCV000303370\|RCV000355868\|RCV000395916;	N	MedGen:CN239218\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406	10	73611096	73611096	10:g.73611096C>T	ClinGen:CA10654463	CN239218 Atypical Gaucher Disease;
NM_022124.6(CDH23):c.*361C>A	-1	PSAP;CDH23	Conflicting interpretations of pathogenicity	115033851	RCV000269900\|RCV000271219\|RCV000328475\|RCV000365801\|RCV000380695\|RCV000402848\|RCV001103427\|RCV001103426\|RCV001848072;	N	MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MedGen:CN239218\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MONDO:MONDO:0010775,MedGen:C5779620,OMIM:500004\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|Med	10	73575396	73575396	10:g.73575396C>A	ClinGen:CA10635726	CN239218 Atypical Gaucher Disease;
NM_002778.4(PSAP):c.1351-14A>G	-1	PSAP;CDH23	Benign/Likely benign	4747203	RCV000080034\|RCV000291365\|RCV000343946\|RCV000340431\|RCV000400368\|RCV000406452\|RCV000676139\|RCV001103803\|RCV001103805\|RCV001103804;	N	MedGen:CN169374\|MedGen:CN239218\|MONDO:MONDO:0012719,MedGen:C2673635,OMIM:611721, Orphanet:139406\|MONDO:MONDO:0018868,MedGen:C0023522,OMIM:250100, Orphanet:512\|MONDO:MONDO:0009499,MedGen:C0023521,OMIM:245200, Orphanet:487\|MedGen:CN239227\|MedGen:C3661900\|MON	10	73578882	73578882	10:g.73578882T>C	ClinGen:CA147600	CN239218 Atypical Gaucher Disease;

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