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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node: Sulfatidosis (D052516)
..Starting node ..Leukodystrophy, Metachromatic (D007966)
Child Nodes:
........Cerebral Sclerosis, Diffuse, Scholz Type (C564449)
........Combined Saposin Deficiency (C567125)
........Metachromatic Leukodystrophy due to Saposin B Deficiency (C562609)
........Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A (C563587)
........Pseudoarylsulfatase A Deficiency (C565403)
Sister Nodes:
..Leukodystrophy, Metachromatic (D007966) 5
..Multiple Sulfatase Deficiency Disease (D052517)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6387

Name:

Leukodystrophy, Metachromatic

Definition:

An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.

Alternative IDs:

OMIM:250100

ParentIDs:

MESH:D020279|MESH:D052516

TreeNumbers:

C10.228.140.163.100.362.550 |C10.228.140.163.100.435.825.850.500 |C10.228.140.695.625.550 |C10.314.400.550 |C16.320.565.189.362.550 |C16.320.565.189.435.825.850.500 |C16.320.565.398.641.803.925.500 |C16.320.565.595.554.825.850.500 |C18.452.132.100.362.550 |C18.45

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease|Nervous system disease

Reference:

MedGen: D007966
MeSH: D007966
OMIM: 250100;

Genes: ARSA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002500	Abnormal cerebral white matter morphology
3	HP:0001251	Ataxia
4	HP:0003487	Babinski sign
5	HP:0001283	Bulbar palsy
6	HP:0001082	Cholecystitis
7	HP:0002072	Chorea
8	HP:0000762	Decreased nerve conduction velocity
9	HP:0000746	Delusions
10	HP:0001260	Dysarthria
11	HP:0001332	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
19	HP:0001265	Hyporeflexia
20	HP:0001252	Hypotonia
21	HP:0002922	Increased CSF protein
22	HP:0001249	Intellectual disability
23	HP:0002371	Loss of speech
24	HP:0001268	Mental deterioration
25	HP:0000648	Optic atrophy
26	HP:0011096	Peripheral demyelination
27	HP:0007133	Progressive peripheral neuropathy
28	HP:0001250	Seizure
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_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000487.5(ARSA):c.*96A>G	410	ARSA	Pathogenic	6151429	RCV000003190; RCV000020309; RCV000180167;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:CN068604; MedGen:CN221809	22	51063477	51063477	NM_000487.5:c.*96A>G		NC_000022.10:g.51063477T>C	OMIM Allelic Variant:607574.0001	CN068604 Arylsulfatase A pseudodeficiency; C0023522 250100 Metachromatic leukodystrophy; CN221809 not provided
NM_000487.5(ARSA):c.1489_1492dupCCCC (p.Arg498Profs)	410	ARSA	Likely pathogenic	774153480	RCV000169193;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51063611	51063614	NM_000487.5:c.1489_1492dupCCCC	NP_000478.3:p.Arg498Profs	NC_000022.10:g.51063611_51063614dupGGGG	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.1408_1418delGCAGCTGTGAC (p.Ala470Leufs)	410	ARSA	Pathogenic	80338823	RCV000180166;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51063685	51063695	NM_000487.5:c.1408_1418delGCAGCTGTGAC	NP_000478.3:p.Ala470Leufs	NC_000022.10:g.51063685_51063695delGTCACAGCTGC	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu)	410	ARSA	Pathogenic	28940893	RCV000003195; RCV000003197; RCV000003196; RCV000020314;	N	; MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C0751276,ORPHA:309263,SNOMED CT:44359008; MedGen:C0751279,ORPHA:309271,SNOMED CT:24326000	22	51063820	51063820	NM_000487.5:c.1283C>T	NP_000478.3:p.Pro428Leu	NC_000022.10:g.51063820G>A	HGMD:CM940113,OMIM Allelic Variant:607574.0004	C0023522 250100 Metachromatic leukodystrophy; C0751279 Metachromatic leukodystrophy, adult type; C0751276 Metachromatic leukodystrophy, juvenile type
NM_000487.5(ARSA):c.1232C>T (p.Thr411Ile)	410	ARSA	Pathogenic	74315481	RCV000020313; RCV000003233;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C4017847	22	51063871	51063871	NM_000487.5:c.1232C>T	NP_000478.3:p.Thr411Ile	NC_000022.10:g.51063871G>A	OMIM Allelic Variant:607574.0039	C0023522 250100 Metachromatic leukodystrophy; C4017847 Metachromatic leukodystrophy, mild
NM_000487.5(ARSA):c.1223_1231delGTGATACCA (p.Ser408_Thr410del)	410	ARSA	Likely pathogenic	765905826	RCV000169598;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51063872	51063880	NM_000487.5:c.1223_1231delGTGATACCA	NP_000478.3:p.Ser408_Thr410del	NC_000022.10:g.51063872_51063880delTGGTATCAC	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.1210+1G>A	410	ARSA	Pathogenic	80338820	RCV000003204; RCV000020312;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C0751276,ORPHA:309263,SNOMED CT:44359008	22	51064006	51064006	NM_000487.5:c.1210+1G>A		NC_000022.10:g.51064006C>T	OMIM Allelic Variant:607574.0009	C0023522 250100 Metachromatic leukodystrophy; C0751276 Metachromatic leukodystrophy, juvenile type
NM_000487.5(ARSA):c.1178C>G (p.Thr393Ser)	410	ARSA	Benign;Pathogenic	743616	RCV000020311; RCV000078937;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:CN169374	22	51064039	51064039	NM_000487.5:c.1178C>G	NP_000478.3:p.Thr393Ser	NC_000022.10:g.51064039G>C	HGMD:CM910052	C0023522 250100 Metachromatic leukodystrophy; CN169374 not specified
NM_000487.5(ARSA):c.1175G>A (p.Arg392Gln)	410	ARSA	Likely pathogenic	199476391	RCV000150058; RCV000058946;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:CN221809	22	51064042	51064042	NM_000487.5:c.1175G>A	NP_000478.3:p.Arg392Gln	NC_000022.10:g.51064042C>T	HGMD:CM980120,UniProtKB (variants):VAR_007285	C0023522 250100 Metachromatic leukodystrophy; CN221809 not provided
NM_000487.5(ARSA):c.1174C>T (p.Arg392Trp)	410	ARSA	Likely pathogenic;Pathogenic	74315480	RCV000003231;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51064043	51064043	NM_000487.5:c.1174C>T	NP_000478.3:p.Arg392Trp	NC_000022.10:g.51064043G>A	OMIM Allelic Variant:607574.0037	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.1150G>A (p.Glu384Lys)	410	ARSA	Pathogenic	74315479	RCV000078936; RCV000003230;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C4017096	22	51064067	51064067	NM_000487.5:c.1150G>A	NP_000478.3:p.Glu384Lys	NC_000022.10:g.51064067C>T	HGMD:CM930045,OMIM Allelic Variant:607574.0036	C4017096 Arylsulfatase a pseudodeficiency, intermediate; C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.1125_1126delCT (p.Phe376Leufs)	410	ARSA	Pathogenic	398123412	RCV000078934;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51064091	51064092	NM_000487.5:c.1125_1126delCT	NP_000478.3:p.Phe376Leufs	NC_000022.10:g.51064091_51064092delAG	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.1114C>T (p.Arg372Trp)	410	ARSA	Pathogenic	74315476	RCV000003227; RCV000078933;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C4017094	22	51064103	51064103	NM_000487.5:c.1114C>T	NP_000478.3:p.Arg372Trp	NC_000022.10:g.51064103G>A	HGMD:CM940109,OMIM Allelic Variant:607574.0033	C0023522 250100 Metachromatic leukodystrophy; C4017094 Metachromatic leukodystrophy, severe
NM_000487.5(ARSA):c.1108-2A>G	410	ARSA	Pathogenic	398123411	RCV000078932;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51064111	51064111	NM_000487.5:c.1108-2A>G		NC_000022.10:g.51064111T>C	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.1055A>G (p.Asn352Ser)	410	ARSA	Benign;Pathogenic	2071421	RCV000003191; RCV000020310; RCV000078931;	N	; MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:CN221809	22	51064416	51064416	NM_000487.5:c.1055A>G	NP_000478.3:p.Asn352Ser	NC_000022.10:g.51064416T>C	HGMD:CM890013,OMIM Allelic Variant:607574.0002	C0023522 250100 Metachromatic leukodystrophy; CN221809 not provided
NM_000487.5(ARSA):c.1010A>T (p.Asp337Val)	410	ARSA	Likely pathogenic;Pathogenic	74315475	RCV000003226; RCV000169024;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C4017094	22	51064461	51064461	NM_000487.5:c.1010A>T	NP_000478.3:p.Asp337Val	NC_000022.10:g.51064461T>A	OMIM Allelic Variant:607574.0032	C0023522 250100 Metachromatic leukodystrophy; C4017094 Metachromatic leukodystrophy, severe
NM_000487.5(ARSA):c.991G>T (p.Glu331Ter)	410	ARSA	Pathogenic	398123419	RCV000078953;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51064480	51064480	NM_000487.5:c.991G>T	NP_000478.3:p.Glu331Ter	NC_000022.10:g.51064480C>A	HGMD:CM065973	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.986C>T (p.Thr329Ile)	410	ARSA	Pathogenic	398123418	RCV000078952;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51064485	51064485	NM_000487.5:c.986C>T	NP_000478.3:p.Thr329Ile	NC_000022.10:g.51064485G>A	HGMD:CM990184	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.979+1G>A	410	ARSA	Likely pathogenic	754722529	RCV000169323;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51064581	51064581	NM_000487.5:c.979+1G>A		NC_000022.10:g.51064581C>T	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.899T>C (p.Leu300Ser)	410	ARSA	Pathogenic	199476389	RCV000150059; RCV000058988;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:CN221809	22	51064662	51064662	NM_000487.5:c.899T>C	NP_000478.3:p.Leu300Ser	NC_000022.10:g.51064662A>G	HGMD:CM980119,UniProtKB (variants):VAR_054196	C0023522 250100 Metachromatic leukodystrophy; CN221809 not provided
NM_000487.5(ARSA):c.883G>A (p.Gly295Ser)	410	ARSA	Pathogenic	199476349	RCV000150060; RCV000058985;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:CN221809	22	51064678	51064678	NM_000487.5:c.883G>A	NP_000478.3:p.Gly295Ser	NC_000022.10:g.51064678C>T	HGMD:CM042300,UniProtKB (variants):VAR_054194	C0023522 250100 Metachromatic leukodystrophy; CN221809 not provided
NM_000487.5(ARSA):c.868C>T (p.Arg290Cys)	410	ARSA	Pathogenic	74315473	RCV000003223;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51064693	51064693	NM_000487.5:c.868C>T	NP_000478.3:p.Arg290Cys	NC_000022.10:g.51064693G>A	OMIM Allelic Variant:607574.0029	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.827C>T (p.Thr276Met)	410	ARSA	Likely pathogenic;Pathogenic	74315472	RCV000003221; RCV000169246;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C4017094	22	51065046	51065046	NM_000487.5:c.827C>T	NP_000478.3:p.Thr276Met	NC_000022.10:g.51065046G>A	OMIM Allelic Variant:607574.0027	C0023522 250100 Metachromatic leukodystrophy; C4017094 Metachromatic leukodystrophy, severe
NM_000487.5(ARSA):c.769G>C (p.Asp257His)	410	ARSA	Pathogenic	80338819	RCV000020322;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065104	51065104	NM_000487.5:c.769G>C	NP_000478.3:p.Asp257His	NC_000022.10:g.51065104C>G	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.763G>A (p.Glu255Lys)	410	ARSA	Likely pathogenic;Pathogenic	74315483	RCV000003237; RCV000169048;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C0751278	22	51065110	51065110	NM_000487.5:c.763G>A	NP_000478.3:p.Glu255Lys	NC_000022.10:g.51065110C>T	OMIM Allelic Variant:607574.0044	C0023522 250100 Metachromatic leukodystrophy; C0751278 Metachromatic leukodystrophy, late infantile
NM_000487.5(ARSA):c.739G>A (p.Gly247Arg)	410	ARSA	Pathogenic	74315471	RCV000003220; RCV000020321;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C4017094	22	51065134	51065134	NM_000487.5:c.739G>A	NP_000478.3:p.Gly247Arg	NC_000022.10:g.51065134C>T	OMIM Allelic Variant:607574.0026	C0023522 250100 Metachromatic leukodystrophy; C4017094 Metachromatic leukodystrophy, severe
NM_000487.5(ARSA):c.737G>A (p.Arg246His)	410	ARSA	Pathogenic	199476366	RCV000150061; RCV000058979;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:CN221809	22	51065136	51065136	NM_000487.5:c.737G>A	NP_000478.3:p.Arg246His	NC_000022.10:g.51065136C>T	HGMD:CM970112,UniProtKB (variants):VAR_007268	C0023522 250100 Metachromatic leukodystrophy; CN221809 not provided
NM_000487.5(ARSA):c.736C>T (p.Arg246Cys)	410	ARSA	Likely pathogenic;Pathogenic	74315470	RCV000003219;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065137	51065137	NM_000487.5:c.736C>T	NP_000478.3:p.Arg246Cys	NC_000022.10:g.51065137G>A	OMIM Allelic Variant:607574.0025	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.697C>A (p.Pro233Thr)	410	ARSA	Pathogenic	74315469	RCV000003218;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065176	51065176	NM_000487.5:c.697C>A	NP_000478.3:p.Pro233Thr	NC_000022.10:g.51065176G>T	OMIM Allelic Variant:607574.0024	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.677C>T (p.Ala226Val)	410	ARSA	Pathogenic	74315468	RCV000003217;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065269	51065269	NM_000487.5:c.677C>T	NP_000478.3:p.Ala226Val	NC_000022.10:g.51065269G>A	OMIM Allelic Variant:607574.0023	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.641C>T (p.Ala214Val)	410	ARSA	Pathogenic	74315467	RCV000003216;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065305	51065305	NM_000487.5:c.641C>T	NP_000478.3:p.Ala214Val	NC_000022.10:g.51065305G>A	OMIM Allelic Variant:607574.0022	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.583delT (p.Trp195Glyfs)	410	ARSA	Pathogenic	398123416	RCV000078948;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065363	51065363	NM_000487.5:c.583delT	NP_000478.3:p.Trp195Glyfs	NC_000022.10:g.51065363delA	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.542T>G (p.Ile181Ser)	410	ARSA	Pathogenic	74315457	RCV000003202; RCV000003203; RCV000020320;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C0751276,ORPHA:309263,SNOMED CT:44359008; MedGen:C0751279,ORPHA:309271,SNOMED CT:24326000	22	51065404	51065404	NM_000487.5:c.542T>G	NP_000478.3:p.Ile181Ser	NC_000022.10:g.51065404A>C	OMIM Allelic Variant:607574.0008,OMIM Allelic Variant:607574.0041	C0023522 250100 Metachromatic leukodystrophy; C0751279 Metachromatic leukodystrophy, adult type; C0751276 Metachromatic leukodystrophy, juvenile type
NM_000487.5(ARSA):c.506C>G (p.Pro169Arg)	410	ARSA	Pathogenic	74315465	RCV000003214;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065440	51065440	NM_000487.5:c.506C>G	NP_000478.3:p.Pro169Arg	NC_000022.10:g.51065440G>C	OMIM Allelic Variant:607574.0020	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.467G>A (p.Gly156Asp)	410	ARSA	Pathogenic	74315463	RCV000003212;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065479	51065479	NM_000487.5:c.467G>A	NP_000478.3:p.Gly156Asp	NC_000022.10:g.51065479C>T	OMIM Allelic Variant:607574.0018	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.465+1G>A	410	ARSA	Pathogenic	80338815	RCV000003192; RCV000003194; RCV000020319;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C0751276,ORPHA:309263,SNOMED CT:44359008; MedGen:C0751279,ORPHA:309271,SNOMED CT:24326000	22	51065593	51065593	NM_000487.5:c.465+1G>A		NC_000022.10:g.51065593C>T	HGMD:CS910416,OMIM Allelic Variant:607574.0003	C0023522 250100 Metachromatic leukodystrophy; C0751279 Metachromatic leukodystrophy, adult type; C0751276 Metachromatic leukodystrophy, juvenile type
NM_000487.5(ARSA):c.370G>A (p.Gly124Ser)	410	ARSA	Pathogenic;Uncertain significance	74315461	RCV000003209; RCV000078945;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:CN221809	22	51065689	51065689	NM_000487.5:c.370G>A	NP_000478.3:p.Gly124Ser	NC_000022.10:g.51065689C>T	HGMD:CM940098,OMIM Allelic Variant:607574.0015	C0023522 250100 Metachromatic leukodystrophy; CN221809 not provided
NM_000487.5(ARSA):c.304delC (p.Leu102Cysfs)	410	ARSA	Likely pathogenic	786204673	RCV000169476;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065755	51065755	NM_000487.5:c.304delC	NP_000478.3:p.Leu102Cysfs	NC_000022.10:g.51065755delG	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.302G>A (p.Gly101Asp)	410	ARSA	Pathogenic	74315455	RCV000003198; RCV000020318;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C0751279,ORPHA:309271,SNOMED CT:24326000	22	51065757	51065757	NM_000487.5:c.302G>A	NP_000478.3:p.Gly101Asp	NC_000022.10:g.51065757C>A,NC_000022.10:g.51065757C>T	OMIM Allelic Variant:607574.0005	C0023522 250100 Metachromatic leukodystrophy; C0751279 Metachromatic leukodystrophy, adult type
NM_000487.5(ARSA):c.293C>T (p.Ser98Phe)	410	ARSA	Likely pathogenic;Pathogenic	74315456	RCV000003199; RCV000020317;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C0751278	22	51065766	51065766	NM_000487.5:c.293C>T	NP_000478.3:p.Ser98Phe	NC_000022.10:g.51065766G>A	HGMD:CM910049,OMIM Allelic Variant:607574.0006	C0023522 250100 Metachromatic leukodystrophy; C0751278 Metachromatic leukodystrophy, late infantile
NM_000487.5(ARSA):c.257G>A (p.Arg86Gln)	410	ARSA	Pathogenic	74315458	RCV000003205; RCV000020316;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004; MedGen:C4017093	22	51065802	51065802	NM_000487.5:c.257G>A	NP_000478.3:p.Arg86Gln	NC_000022.10:g.51065802C>T	OMIM Allelic Variant:607574.0010	C0023522 250100 Metachromatic leukodystrophy; C4017093 Metachromatic leukodystrophy, late-onset
NM_000487.5(ARSA):c.240dupC (p.Gly81Argfs)	410	ARSA	Likely pathogenic	786204599	RCV000169355;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51065819	51065819	NM_000487.5:c.240dupC	NP_000478.3:p.Gly81Argfs	NC_000022.10:g.51065819dupG	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.195delC (p.Tyr65Terfs)	410	ARSA	Pathogenic	398123414	RCV000078942;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51066013	51066013	NM_000487.5:c.195delC	NP_000478.3:p.Tyr65Terfs	NC_000022.10:g.51066013delG	-	C0023522 250100 Metachromatic leukodystrophy
NM_000487.5(ARSA):c.34delG (p.Ala12Profs)	410	ARSA	Pathogenic	398123415	RCV000078944;	N	MedGen:C0023522,OMIM:250100,SNOMED CT:396338004	22	51066174	51066174	NM_000487.5:c.34delG	NP_000478.3:p.Ala12Profs	NC_000022.10:g.51066174delC	-	C0023522 250100 Metachromatic leukodystrophy