Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)	SNV Germline	Chr5:78781974	Pathogenic/Likely pathogenic	Mucopolysaccharidosis, type vi, severe Mucopolysaccharidosis type 6 Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA114603	rs_118203941	7 SubmittersRCV000000928 RCV000179701 RCV000779751 RCV000723435
NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)	SNV Germline	Chr5:78964477	Pathogenic	Mucopolysaccharidosis type 6 Condition: not provided Metachromatic leukodystrophy ARSB-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA114609	rs_118203943	16 SubmittersRCV000000933 RCV000078003 RCV000779747 RCV003904792
NM_000487.6(ARSA):c.465+1G>A	SNV Germline	Chr22:50627165	Pathogenic	Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy, juvenile type Condition: not provided Metachromatic leukodystrophy Intellectual disability Neurodevelopmental disorder Inborn genetic diseases See cases ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA215122	rs_80338815	39 SubmittersRCV000003194 RCV000003192 RCV000335617 RCV000020319 RCV001251910 RCV001778645 RCV001267384 RCV002251862 RCV003934795
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)	SNV Germline	Chr22:50625392	Pathogenic	Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy, juvenile type Arylsulfatase a, allele a Metachromatic leukodystrophy Condition: not provided Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA115956	rs_28940893	26 SubmittersRCV000003197 RCV000003195 RCV000003196 RCV000020314 RCV000392246 RCV001251909
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)	SNV Germline	Chr22:50627329	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115958	rs_74315455	8 SubmittersRCV000003198 RCV000020318 RCV000724149
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)	SNV Germline	Chr22:50627338	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, late infantile form Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115960	rs_74315456	16 SubmittersRCV000003199 RCV000020317 RCV000723374
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)	SNV Germline	Chr22:50626976	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy Condition: not provided Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA115962	rs_74315457	25 SubmittersRCV000003202 RCV000003203 RCV000020320 RCV000657846 RCV001267385
NM_000487.6(ARSA):c.1210+1G>A	SNV Germline	Chr22:50625578	Pathogenic	Metachromatic leukodystrophy, juvenile type Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115964	rs_80338820	9 SubmittersRCV000003204 RCV000020312 RCV000723835
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)	SNV Germline	Chr22:50626202	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, late infantile form Pseudoarylsulfatase A deficiency Metachromatic leukodystrophy Abnormality of the nervous system Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115967	rs_74315459	11 SubmittersRCV000003206 RCV000714802 RCV000666302 RCV001813940 RCV002286693
NM_000487.6(ARSA):c.263G>A (p.Gly88Asp)	SNV Germline	Chr22:50627368	Pathogenic	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA115969	rs_74315460	2 SubmittersRCV000003207 RCV001353057
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)	SNV Germline	Chr22:50627261	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided Inborn genetic diseases ARSA-related disorder	Criteria Provided Conflicting Classifications	CA220987	rs_74315461	8 SubmittersRCV000003209 RCV000078945 RCV000623394 RCV003415633
NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)	SNV Germline	Chr22:50627218	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA115977	rs_74315462	5 SubmittersRCV000003210 RCV000675081
NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)	SNV Germline	Chr22:50627051	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA278026	rs_74315463	4 SubmittersRCV000003212
NM_000487.6(ARSA):c.506C>G (p.Pro169Arg)	SNV Germline	Chr22:50627012	Pathogenic	Metachromatic leukodystrophy	No Assertion Criteria Provided	CA278028	rs_74315465	1 SubmittersRCV000003214
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)	SNV Germline	Chr22:50627007	Conflicting classifications of pathogenicity	Arylsulfatase A pseudodeficiency Metachromatic leukodystrophy not specified Condition: not provided Intellectual disability	Criteria Provided Conflicting Classifications	CA115981	rs_74315466	9 SubmittersRCV000003215 RCV000540770 RCV002265546 RCV003480017 RCV001251908
NM_000487.6(ARSA):c.641C>T (p.Ala214Val)	SNV Germline	Chr22:50626877	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340036	rs_74315467	10 SubmittersRCV000003216 RCV000723836
NM_000487.6(ARSA):c.677C>T (p.Ala226Val)	SNV Germline	Chr22:50626841	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications	CA278030	rs_74315468	5 SubmittersRCV000003217 RCV000343115
NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)	SNV Germline	Chr22:50626709	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Metachromatic leukodystrophy, juvenile type	Criteria Provided Multiple Submitters No Conflicts	CA278034	rs_74315470	8 SubmittersRCV000003219 RCV003993733
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)	SNV Germline	Chr22:50626706	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115983	rs_74315471	12 SubmittersRCV000003220 RCV000020321 RCV000723992
NM_000487.6(ARSA):c.827C>T (p.Thr276Met)	SNV Germline	Chr22:50626618	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy Condition: not provided ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA115985	rs_74315472	12 SubmittersRCV000003221 RCV000169246 RCV000991546 RCV003904799
NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)	SNV Germline	Chr22:50626265	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Spastic ataxia	Criteria Provided Multiple Submitters No Conflicts	CA278036	rs_74315473	6 SubmittersRCV000003223 RCV001642197
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)	SNV Germline	Chr22:50626243	Pathogenic	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA115987	rs_74315474	3 SubmittersRCV000003224 RCV000492011
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)	SNV Germline	Chr22:50626033	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, severe Condition: not provided Leukodystrophy Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115989	rs_74315475	14 SubmittersRCV000003226 RCV000413321 RCV000414806 RCV000169024
NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)	SNV Germline	Chr22:50625675	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, severe Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115991	rs_74315476	9 SubmittersRCV000003227 RCV000078933 RCV000723522
NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)	SNV Germline	Chr22:50625674	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, mild Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115993	rs_74315477	8 SubmittersRCV000003228 RCV000544790
NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)	SNV Germline	Chr22:50625653	Pathogenic	Arylsulfatase a pseudodeficiency, severe Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115995	rs_74315478	4 SubmittersRCV000003229 RCV003500499 RCV002512051
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)	SNV Germline	Chr22:50625639	Pathogenic/Likely pathogenic	Arylsulfatase a pseudodeficiency, intermediate Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115997	rs_74315479	10 SubmittersRCV000003230 RCV000078936 RCV000723624
NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)	SNV Germline	Chr22:50625615	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278038	rs_74315480	7 SubmittersRCV000003231 RCV000723375
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)	SNV Germline	Chr22:50625443	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, mild Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA115999	rs_74315481	4 SubmittersRCV000003233 RCV000020313
NM_000487.6(ARSA):c.410T>C (p.Leu137Pro)	SNV Germline	Chr22:50627221	Pathogenic	Metachromatic leukodystrophy, adult type	No Assertion Criteria Provided	CA116003	rs_121434215	1 SubmittersRCV000003235
NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)	SNV Germline	Chr22:50626271	Pathogenic	Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA116005	rs_28940894	4 SubmittersRCV000003236 RCV000795605
NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)	SNV Germline	Chr22:50626682	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy, late infantile form Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA116007	rs_74315483	8 SubmittersRCV000003237 RCV000169048 RCV000364541
NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile)	SNV Germline	Chr22:50625446	Likely pathogenic	Metachromatic leukodystrophy, adult type Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA116009	rs_28940895	3 SubmittersRCV000003238 RCV001376978
NM_000487.6(ARSA):c.905G>T (p.Cys302Phe)	SNV Germline	Chr22:50626228	Pathogenic	Metachromatic leukodystrophy, late infantile form Condition: not provided	No Assertion Criteria Provided	CA116011	rs_74315484	2 SubmittersRCV000003239 RCV000058989
NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr)	SNV Germline	Chr22:50625396	Pathogenic	Metachromatic leukodystrophy, juvenile type	No Assertion Criteria Provided	CA116013	rs_74315485	1 SubmittersRCV000003240
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)	SNV Germline	Chr10:71819860	Likely pathogenic	Gaucher disease due to saposin C deficiency Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA123069	rs_121918110	2 SubmittersRCV000014301 RCV003317034
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)	SNV Germline	Chr22:50627374	Pathogenic	Metachromatic leukodystrophy, late-onset Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA115965	rs_74315458	15 SubmittersRCV000003205 RCV000020316 RCV000723563
NM_000487.6(ARSA):c.769G>C (p.Asp257His)	SNV Germline	Chr22:50626676	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA341708	rs_80338819	10 SubmittersRCV000020322 RCV000255092
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)	SNV Germline	Chr22:50625633	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA218986	rs_199476370	7 SubmittersRCV000058945 RCV001329307 RCV003387751
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)	SNV Germline	Chr22:50625614	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA218988	rs_199476391	6 SubmittersRCV000058946 RCV000150058
NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)	SNV Germline	Chr22:50625594	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA218990	rs_199476376	4 SubmittersRCV000058947 RCV000672049
NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)	SNV Germline	Chr22:50625386	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA218994	rs_199476392	5 SubmittersRCV000058949 RCV002514296
NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)	SNV Germline	Chr22:50625383	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA218996	rs_199476380	3 SubmittersRCV000058950 RCV001854228
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)	SNV Germline	Chr22:50625204	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA219000	rs_199476388	5 SubmittersRCV000058952 RCV000667096 RCV002222376
NM_000487.6(ARSA):c.209T>C (p.Leu70Pro)	SNV Germline	Chr22:50627571	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219004	rs_199476351	2 SubmittersRCV000058954 RCV003500500
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)	SNV Germline	Chr22:50627375	Pathogenic	Condition: not provided Metachromatic leukodystrophy Frontotemporal dementia	Criteria Provided Multiple Submitters No Conflicts	CA219008	rs_199476352	6 SubmittersRCV000058956 RCV000409776 RCV001090098
NM_000487.6(ARSA):c.302G>T (p.Gly101Val)	SNV Germline	Chr22:50627329	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219014	rs_74315455	4 SubmittersRCV000058960 RCV000803574
NM_000487.6(ARSA):c.412C>T (p.Pro138Ser)	SNV Germline	Chr22:50627219	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219018	rs_60504011	3 SubmittersRCV000058962 RCV001854229
NM_000487.6(ARSA):c.418C>G (p.His140Asp)	SNV Germline	Chr22:50627213	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219020	rs_199476358	6 SubmittersRCV000058963 RCV000667286
NM_000487.6(ARSA):c.433C>G (p.Arg145Gly)	SNV Germline	Chr22:50627198	Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219022	rs_199476373	2 SubmittersRCV000058964 RCV001242589
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)	SNV Germline	Chr22:50627182	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219024	rs_199476375	8 SubmittersRCV000058965 RCV000631449
NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr)	SNV Germline	Chr22:50627171	Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219026	rs_199476365	2 SubmittersRCV000058966 RCV002513773
NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)	SNV Germline	Chr22:50627048	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219030	rs_74315464	4 SubmittersRCV000058968 RCV000778670
NM_000487.6(ARSA):c.577C>A (p.Pro193Thr)	SNV Germline	Chr22:50626941	Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219040	rs_199476374	3 SubmittersRCV000058973 RCV003500501
NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)	SNV Germline	Chr22:50626910	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219044	rs_199476345	4 SubmittersRCV000058975 RCV000664907
NM_000487.6(ARSA):c.640G>C (p.Ala214Pro)	SNV Germline	Chr22:50626878	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219046	rs_199476341	4 SubmittersRCV000058976 RCV001380269
NM_000487.6(ARSA):c.737G>A (p.Arg246His)	SNV Germline	Chr22:50626708	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219052	rs_199476366	8 SubmittersRCV000058979 RCV000150061
NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)	SNV Germline	Chr22:50626699	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219054	rs_199476384	5 SubmittersRCV000058980 RCV000524971
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr)	SNV Germline	Chr22:50626690	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219056	rs_199476367	2 SubmittersRCV000058981 RCV002247460
NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)	SNV Germline	Chr22:50626598	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219058	rs_199476386	5 SubmittersRCV000058982 RCV000668155
NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)	SNV Germline	Chr22:50626594	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219060	rs_199476342	4 SubmittersRCV000058983 RCV002283451
NM_000487.6(ARSA):c.869G>A (p.Arg290His)	SNV Germline	Chr22:50626264	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy ARSA-related disorder Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA219062	rs_199476355	12 SubmittersRCV000058984 RCV000668693 RCV003905027 RCV004019068
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)	SNV Germline	Chr22:50626250	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219064	rs_199476349	10 SubmittersRCV000058985 RCV000150060
NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)	SNV Germline	Chr22:50626249	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219066	rs_199476387	3 SubmittersRCV000058986 RCV001150625
NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)	SNV Germline	Chr22:50626234	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219070	rs_199476389	3 SubmittersRCV000058988 RCV001854230
NM_000487.6(ARSA):c.917C>T (p.Thr306Met)	SNV Germline	Chr22:50626216	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219074	rs_199476359	8 SubmittersRCV000058991 RCV000578460
NM_000487.6(ARSA):c.922T>C (p.Tyr308His)	SNV Germline	Chr22:50626211	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219078	rs_199476379	3 SubmittersRCV000058993 RCV000670369
NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)	SNV Germline	Chr22:50626208	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219080	rs_199476360	7 SubmittersRCV000058994 RCV001039188
NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)	SNV Germline	Chr22:50626204	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219082	rs_199476356	3 SubmittersRCV000058995 RCV000695949
NM_000487.6(ARSA):c.929G>T (p.Gly310Val)	SNV Germline	Chr22:50626204	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA219084	rs_199476356	2 SubmittersRCV000058996 RCV000995697
NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)	SNV Germline	Chr22:50626195	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA219086	rs_199476382	8 SubmittersRCV000058997 RCV000984245
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)	SNV Germline	Chr22:50626191	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219088	rs_199476390	4 SubmittersRCV000058998 RCV001004415
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)	SNV Germline	Chr22:50626187	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA219090	rs_199476368	4 SubmittersRCV000058999 RCV000665708
NM_000487.6(ARSA):c.1108-2A>G	SNV Germline	Chr22:50625683	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278420	rs_398123411	7 SubmittersRCV000078932 RCV000482171
NM_000487.6(ARSA):c.1211-10C>T	SNV Germline	Chr22:50625474	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA220986	rs_398123413	3 SubmittersRCV000078939 RCV001087723 RCV003935025
NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)	SNV Germline	Chr22:50626057	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278425	rs_398123418	4 SubmittersRCV000078952 RCV000723561
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)	SNV Germline	Chr22:50626052	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278427	rs_398123419	4 SubmittersRCV000078953 RCV000723562
NM_000487.6(ARSA):c.465G>A (p.Gln155=)	SNV Germline	Chr22:50627166	Conflicting classifications of pathogenicity	Condition: not provided not specified Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA233477	rs_199476377	3 SubmittersRCV000152793 RCV001582624 RCV001850084
NM_000487.6(ARSA):c.979+1G>A	SNV Germline	Chr22:50626153	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA278479	rs_754722529	5 SubmittersRCV000169323 RCV003151752
NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)	SNV Germline	Chr22:50626878	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA243175	rs_199476341	4 SubmittersRCV000177069 RCV002517708
NM_000487.6(ARSA):c.901C>G (p.Arg301Gly)	SNV Germline	Chr22:50626232	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA245949	rs_794727704	3 SubmittersRCV000178780 RCV000691986
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)	SNV Germline	Chr22:50625228	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA247540	rs_148352371	7 SubmittersRCV000180165 RCV000388131 RCV003927699
NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)	SNV Germline	Chr22:50627044	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10325000	rs_768028181	7 SubmittersRCV000254939 RCV000984244
NM_000487.6(ARSA):c.854+1G>T	SNV Germline	Chr22:50626590	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603518	rs_886041911	2 SubmittersRCV000263067 RCV001855074
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)	SNV Germline	Chr22:50627285	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10603751	rs_761860059	12 SubmittersRCV000364716 RCV000984243
NM_000487.6(ARSA):c.930C>T (p.Gly310=)	SNV Germline	Chr22:50626203	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324871	rs_767751622	3 SubmittersRCV000282325 RCV002059187
NM_000487.6(ARSA):c.918G>A (p.Thr306=)	SNV Germline	Chr22:50626215	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324877	rs_370250328	3 SubmittersRCV000306878 RCV001078705
NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)	SNV Germline	Chr10:71819734	Conflicting classifications of pathogenicity	Combined PSAP deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Condition: not provided Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547470	rs_202125074	6 SubmittersRCV000349589 RCV000350842 RCV000389048 RCV001044241 RCV002262951 RCV001833438 RCV002520627
NM_002778.4(PSAP):c.1056C>T (p.Ser352=)	SNV Germline	Chr10:71819850	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Combined PSAP deficiency Galactosylceramide beta-galactosidase deficiency Atypical Gaucher Disease Sphingolipid activator protein 1 deficiency Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency	Criteria Provided Conflicting Classifications	CA5547494	rs_138328594	2 SubmittersRCV000264576 RCV000303307 RCV000304947 RCV000361976 RCV000973449 RCV001103918 RCV001103919
NM_002778.4(PSAP):c.1278C>T (p.Asn426=)	SNV Germline	Chr10:71819537	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Gaucher disease due to saposin C deficiency Combined PSAP deficiency Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications	CA5547413	rs_777227555	4 SubmittersRCV000259660 RCV000299749 RCV000356874 RCV000932186 RCV001272671 RCV003330636
NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)	SNV Germline	Chr10:71819818	Conflicting classifications of pathogenicity	Gaucher disease due to saposin C deficiency Combined PSAP deficiency Krabbe disease due to saposin A deficiency Sphingolipid activator protein 1 deficiency Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547484	rs_140066253	4 SubmittersRCV000301263 RCV000335258 RCV000390963 RCV000390949 RCV001356155 RCV001828310
NM_002778.4(PSAP):c.798G>A (p.Ala266=)	SNV Germline	Chr10:71821987	Conflicting classifications of pathogenicity	Krabbe disease due to saposin A deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA5547598	rs_199672678	3 SubmittersRCV000270227 RCV000310085 RCV000313643 RCV000362418 RCV001833439
NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)	SNV Germline	Chr10:71834379	Conflicting classifications of pathogenicity	Galactosylceramide beta-galactosidase deficiency Atypical Gaucher Disease Combined PSAP deficiency Metachromatic leukodystrophy Sphingolipid activator protein 1 deficiency Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547881	rs_571773332	3 SubmittersRCV000274090 RCV000272506 RCV000327586 RCV000386828 RCV002522167 RCV004021479
NM_000487.6(ARSA):c.225-5C>T	SNV Germline	Chr22:50627411	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10325086	rs_192013394	2 SubmittersRCV000331507
NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)	SNV Germline	Chr22:50626859	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324952	rs_201251634	4 SubmittersRCV000301678
NM_000487.6(ARSA):c.*103C>T	SNV Germline	Chr22:50625042	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA10653700	rs_146160737	2 SubmittersRCV000382356 RCV003950192
NM_000487.6(ARSA):c.1211-15T>C	SNV Germline	Chr22:50625479	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324770	rs_374150980	2 SubmittersRCV000393936
NM_000487.6(ARSA):c.369C>T (p.Ala123=)	SNV Germline	Chr22:50627262	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10653701	rs_886057657	2 SubmittersRCV000389729
NM_000487.6(ARSA):c.663C>T (p.Phe221=)	SNV Germline	Chr22:50626855	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA10324951	rs_754484249	3 SubmittersRCV000359843 RCV003950193
NM_000487.6(ARSA):c.-131G>A	SNV Germline	Chr22:50627910	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA10654226	rs_551316995	2 SubmittersRCV000373219 RCV003957769
NM_000487.6(ARSA):c.1210+1G>T	SNV Germline	Chr22:50625578	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16042034	rs_80338820	2 SubmittersRCV000411066
NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)	SNV Germline	Chr22:50626992	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA10324986	rs_762284875	3 SubmittersRCV000409359
NM_000487.6(ARSA):c.466-2A>G	SNV Germline	Chr22:50627054	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA16042043	rs_1057517044	3 SubmittersRCV000409478
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)	SNV Germline	Chr22:50627210	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA16042044	rs_1057516730	2 SubmittersRCV000410152
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)	SNV Germline	Chr22:50626154	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10324863	rs_148092995	7 SubmittersRCV000414752 RCV000984246 RCV002523904
NM_002778.4(PSAP):c.409C>G (p.Leu137Val)	SNV Germline	Chr10:71829044	Conflicting classifications of pathogenicity	Condition: not provided Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Metachromatic leukodystrophy PSAP-related disorder	Criteria Provided Conflicting Classifications	CA5547774	rs_377027316	5 SubmittersRCV000484673 RCV001084808 RCV001335064 RCV001272680 RCV003902722
NM_000487.6(ARSA):c.466-7G>C	SNV Germline	Chr22:50627059	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Conflicting Classifications	CA10325001	rs_6151414	8 SubmittersRCV000487951 RCV001083981 RCV003972814
NM_000487.6(ARSA):c.926A>T (p.Glu309Val)	SNV Germline	Chr22:50626207	Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412174579	rs_1085308016	2 SubmittersRCV000489590 RCV002527037
NM_000487.6(ARSA):c.1274A>G (p.His425Arg)	SNV Unknown	Chr22:50625401	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412168978	rs_1135401757	1 SubmittersRCV000496135
NM_000487.6(ARSA):c.852T>A (p.Asn284Lys)	SNV Unknown	Chr22:50626593	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412175586	rs_1135401756	1 SubmittersRCV000496194
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)	SNV Germline	Chr22:50626844	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications	CA10324950	rs_527640350	4 SubmittersRCV000496179
NM_000487.6(ARSA):c.545C>G (p.Pro182Arg)	SNV Unknown	Chr22:50626973	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412177603	rs_1135401755	1 SubmittersRCV000496198
NM_000487.6(ARSA):c.229G>C (p.Ala77Pro)	SNV Unknown	Chr22:50627402	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412181963	rs_763880042	1 SubmittersRCV000496166
NM_000487.6(ARSA):c.98T>C (p.Leu33Pro)	SNV Unknown	Chr22:50627682	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412183183	rs_1135401754	1 SubmittersRCV000496199
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)	SNV Germline	Chr22:50626196	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA325531338	rs_551472773	10 SubmittersRCV000501028 RCV000760416
NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)	SNV Germline	Chr10:71834418	Conflicting classifications of pathogenicity	Condition: not provided Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA5547892	rs_558427025	4 SubmittersRCV000513446 RCV001088093 RCV001829458 RCV004023457
NM_002778.4(PSAP):c.10C>G (p.Leu4Val)	SNV Germline	Chr10:71851212	Conflicting classifications of pathogenicity	Condition: not provided Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy PSAP-related disorder	Criteria Provided Conflicting Classifications	CA5547944	rs_574280149	4 SubmittersRCV000512836 RCV001087790 RCV001834647 RCV003960205
NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)	SNV Germline	Chr10:71828111	Conflicting classifications of pathogenicity	Condition: not provided Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy PSAP-related disorder	Criteria Provided Conflicting Classifications	CA5547714	rs_200319381	5 SubmittersRCV000514444 RCV001081218 RCV001272678 RCV003962415
NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)	SNV Germline	Chr22:50626173	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts	CA412174356	rs_1375757476	4 SubmittersRCV000588032
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)	SNV Unknown	Chr22:50627386	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA10325076	rs_769892461	1 SubmittersRCV000626198
NM_000487.6(ARSA):c.679T>C (p.Ser227Pro)	SNV Germline	Chr22:50626839	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter	CA412176900	rs_1555900849	1 SubmittersRCV000631448
NM_000487.6(ARSA):c.1108-3C>G	SNV Germline	Chr22:50625684	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_1001100248	3 SubmittersRCV000667567
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)	SNV Germline	Chr22:50626256	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_1555900678	3 SubmittersRCV000674946
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)	SNV Germline	Chr22:50626052	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_398123419	5 SubmittersRCV000671936 RCV002282317 RCV002531300
NM_000487.6(ARSA):c.224+1G>A	SNV Germline	Chr22:50627555	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_1555901108	2 SubmittersRCV000668533
NM_000487.6(ARSA):c.980-2A>C	SNV Unknown	Chr22:50626065	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_769152137	2 SubmittersRCV000672005
NM_000487.6(ARSA):c.225-2A>G	SNV Germline	Chr22:50627408	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_1555901083	3 SubmittersRCV000674241
NM_000487.6(ARSA):c.465+2T>A	SNV Unknown	Chr22:50627164	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1555900989	1 SubmittersRCV000669056
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)	SNV Germline	Chr22:50627380	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_6151411	6 SubmittersRCV000672436
NM_000487.6(ARSA):c.2T>C (p.Met1Thr)	SNV Unknown	Chr22:50627778	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1555901170	1 SubmittersRCV000668820
NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)	SNV Germline	Chr22:50627182	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_199476375	3 SubmittersRCV000698866
NM_000487.6(ARSA):c.157C>T (p.Gln53Ter)	SNV Germline	Chr22:50627623	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1603445026	1 SubmittersRCV000807270
NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)	SNV Germline	Chr22:50625188	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_201085386	4 SubmittersRCV000902745 RCV002269326
NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser)	SNV Germline	Chr22:50625350	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_6151427	4 SubmittersRCV002051904 RCV000901101
NM_000487.6(ARSA):c.279C>T (p.Val93=)	SNV Germline	Chr22:50627352	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_756760904	3 SubmittersRCV001478188
NM_002778.4(PSAP):c.1146C>T (p.Cys382=)	SNV Germline	Chr10:71819760	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Sphingolipid activator protein 1 deficiency Combined PSAP deficiency Gaucher disease due to saposin C deficiency Krabbe disease due to saposin A deficiency	Criteria Provided Conflicting Classifications		rs_573095617	3 SubmittersRCV001272673 RCV000943827 RCV001107536 RCV001107537 RCV001107538
NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter)	SNV Germline	Chr22:50625309	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2082644196	1 SubmittersRCV001172255
NM_000487.6(ARSA):c.931G>C (p.Gly311Arg)	SNV Germline	Chr22:50626202	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_74315459	1 SubmittersRCV001172253
NM_000487.6(ARSA):c.827C>A (p.Thr276Lys)	SNV Germline	Chr22:50626618	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_74315472	1 SubmittersRCV001172252
NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)	SNV Germline	Chr22:50626733	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_751026400	3 SubmittersRCV001172251
NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)	SNV Germline	Chr22:50627260	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_2082689435	2 SubmittersRCV001172249
NM_000487.6(ARSA):c.335T>A (p.Val112Asp)	SNV Germline	Chr22:50627296	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2082690324	1 SubmittersRCV001172248
NM_000487.6(ARSA):c.179G>C (p.Arg60Pro)	SNV Germline	Chr22:50627601	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_750005732	2 SubmittersRCV001172247 RCV001759675
NM_000487.6(ARSA):c.685-1G>A	SNV Germline	Chr22:50626761	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2082676596	1 SubmittersRCV001172250
NM_000487.6(ARSA):c.677C>A (p.Ala226Asp)	SNV Germline	Chr22:50626841	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_74315468	1 SubmittersRCV000995698
NM_002778.4(PSAP):c.645C>A (p.Asn215Lys)	SNV Germline	Chr10:71828089	Pathogenic	Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_770171865	2 SubmittersRCV001063288 RCV001827403
NM_002778.4(PSAP):c.1A>G (p.Met1Val)	SNV Germline	Chr10:71851221	Pathogenic	Sphingolipid activator protein 1 deficiency Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_121918106	3 SubmittersRCV001066448 RCV001833645
NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)	SNV Germline	Chr22:50625182	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_6151428	5 SubmittersRCV001060881 RCV001759817
NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)	SNV Germline	Chr22:50626926	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_144393886	5 SubmittersRCV001059607 RCV002553864
NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)	SNV Germline	Chr22:50627189	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1188592346	2 SubmittersRCV001062955
NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)	SNV Germline	Chr22:50627198	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_199476373	3 SubmittersRCV001042235 RCV003898047
NM_000487.6(ARSA):c.855-1G>A	SNV Germline	Chr22:50626279	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_754898479	3 SubmittersRCV001042683
NM_000487.6(ARSA):c.684+1G>A	SNV Germline	Chr22:50626833	Pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_146371968	8 SubmittersRCV001090367 RCV001174677
NM_000487.6(ARSA):c.*15G>A	SNV Germline	Chr22:50625130	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Conflicting Classifications		rs_377187248	2 SubmittersRCV001146320 RCV001561920
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)	SNV Germline	Chr22:50627197	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_551548107	3 SubmittersRCV001144538
NM_000487.6(ARSA):c.1210+13C>T	SNV Germline	Chr22:50625566	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_6151426	2 SubmittersRCV001149124
NM_000487.6(ARSA):c.225-4G>A	SNV Germline	Chr22:50627410	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_372937480	2 SubmittersRCV001146460
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)	SNV Germline	Chr22:50626208	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_199476360	2 SubmittersRCV001193048
NM_000487.6(ARSA):c.854+1G>A	SNV Germline	Chr22:50626590	Pathogenic	Metachromatic leukodystrophy Metachromatic leukodystrophy, severe	Criteria Provided Multiple Submitters No Conflicts		rs_886041911	3 SubmittersRCV001192373 RCV002221160
NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)	SNV Germline	Chr22:50625228	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_148352371	2 SubmittersRCV001211652
NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)	SNV Germline	Chr22:50626228	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_74315484	2 SubmittersRCV001237276
NM_000487.6(ARSA):c.413C>A (p.Pro138His)	SNV Germline	Chr22:50627218	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_74315462	1 SubmittersRCV001248156
NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter)	SNV Germline	Chr22:50625297	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_973061258	1 SubmittersRCV001250463
NM_000487.6(ARSA):c.1200C>T (p.Phe400=)	SNV Germline	Chr22:50625589	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1175674325	2 SubmittersRCV001250462
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)	SNV Germline	Chr22:50625964	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Single Submitter		rs_2082658031	3 SubmittersRCV001250460 RCV001573988
NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro)	SNV Germline	Chr22:50626036	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2082660121	1 SubmittersRCV001250459
NM_000487.6(ARSA):c.700C>T (p.Gln234Ter)	SNV Germline	Chr22:50626745	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2082676249	1 SubmittersRCV001250457
NM_000487.6(ARSA):c.413C>G (p.Pro138Arg)	SNV Germline	Chr22:50627218	Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_74315462	2 SubmittersRCV003607419 RCV001268142
NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)	SNV Germline	Chr10:71819769	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Condition: not provided Inborn genetic diseases Sphingolipid activator protein 1 deficiency	Criteria Provided Conflicting Classifications		rs_754680319	4 SubmittersRCV001280270 RCV003481049 RCV003355353 RCV002537887
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)	SNV Germline	Chr10:71819830	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Gaucher disease due to saposin C deficiency Sphingolipid activator protein 1 deficiency	Criteria Provided Multiple Submitters No Conflicts		rs_765744298	3 SubmittersRCV001280271 RCV001449850 RCV002541741
NM_000487.6(ARSA):c.581C>A (p.Pro194His)	SNV Germline	Chr22:50626937	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_769492279	2 SubmittersRCV001290419
NM_000487.6(ARSA):c.607T>C (p.Tyr203His)	SNV Germline	Chr22:50626911	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_2082680103	4 SubmittersRCV001290420
NM_000487.6(ARSA):c.979+8C>T	SNV Germline	Chr22:50626146	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_746862304	2 SubmittersRCV001329926
NM_000487.6(ARSA):c.385G>A (p.Gly129Arg)	SNV Germline	Chr22:50627246	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_753872402	2 SubmittersRCV001345265
NM_000487.6(ARSA):c.901C>T (p.Arg301Trp)	SNV Germline	Chr22:50626232	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_794727704	4 SubmittersRCV001353058 RCV002547576
NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)	SNV Germline	Chr22:50626744	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications		rs_748583298	3 SubmittersRCV001379881 RCV004526847
NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)	SNV Germline	Chr22:50627293	Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_777431148	5 SubmittersRCV001574994 RCV001376979
NM_000487.6(ARSA):c.160C>G (p.Leu54Val)	SNV Germline	Chr22:50627620	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1410632651	2 SubmittersRCV001377180
NM_000487.6(ARSA):c.1107+1G>T	SNV Germline	Chr22:50625935	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146718906	1 SubmittersRCV001382884
NM_000487.6(ARSA):c.685-2A>G	SNV Germline	Chr22:50626762	Pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1490196552	3 SubmittersRCV001380268 RCV003324831
NM_000487.6(ARSA):c.891C>T (p.Ser297=)	SNV Germline	Chr22:50626242	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_770536697	2 SubmittersRCV001498448
NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)	SNV Germline	Chr22:50627602	Pathogenic/Likely pathogenic	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_867538940	3 SubmittersRCV001557720 RCV003388025
NM_000487.6(ARSA):c.276C>T (p.Gly92=)	SNV Germline	Chr22:50627355	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_978006787	2 SubmittersRCV001559153
NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)	SNV Germline	Chr22:50627030	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1430695346	1 SubmittersRCV001580606
NM_000487.6(ARSA):c.633G>A (p.Met211Ile)	SNV Germline	Chr22:50626885	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_773059458	3 SubmittersRCV001620225 RCV001866259
NM_000487.6(ARSA):c.1187A>C (p.Tyr396Ser)	SNV Germline	Chr22:50625602	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146717660	1 SubmittersRCV001733823
NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly)	SNV Germline	Chr22:50625437	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1383481612	2 SubmittersRCV001775249
NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)	SNV Germline	Chr22:50627387	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1313802305	3 SubmittersRCV001785963 RCV003319478
NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)	SNV Germline	Chr22:50626603	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_966673017	3 SubmittersRCV001785964
NM_000487.6(ARSA):c.746T>G (p.Phe249Cys)	SNV Germline	Chr22:50626699	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_199476384	1 SubmittersRCV001806304
NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys)	SNV Germline	Chr22:50625399	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146716641	1 SubmittersRCV001824209
NM_000487.6(ARSA):c.700C>G (p.Gln234Glu)	SNV Germline	Chr22:50626745	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2082676249	1 SubmittersRCV001991704
NM_000487.6(ARSA):c.109G>C (p.Asp37His)	SNV Germline	Chr22:50627671	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146728318	1 SubmittersRCV002032009
NM_000487.6(ARSA):c.892G>A (p.Gly298Ser)	SNV Germline	Chr22:50626241	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_748876604	2 SubmittersRCV001961325
NM_000487.6(ARSA):c.448C>T (p.Pro150Ser)	SNV Germline	Chr22:50627183	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1569081077	1 SubmittersRCV001917446
NM_000487.6(ARSA):c.370G>T (p.Gly124Cys)	SNV Germline	Chr22:50627261	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_74315461	2 SubmittersRCV002016655
NM_000487.6(ARSA):c.1282C>G (p.Pro428Ala)	SNV Germline	Chr22:50625393	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146716603	1 SubmittersRCV001995345
NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)	SNV Germline	Chr22:50627361	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_780399417	1 SubmittersRCV001916815
NM_000487.6(ARSA):c.724G>T (p.Glu242Ter)	SNV Germline	Chr22:50626721	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts		rs_757891932	2 SubmittersRCV001929090
NM_000487.6(ARSA):c.771T>A (p.Asp257Glu)	SNV Germline	Chr22:50626674	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_563053401	2 SubmittersRCV002009219
NM_000487.6(ARSA):c.892G>T (p.Gly298Cys)	SNV Germline	Chr22:50626241	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_748876604	1 SubmittersRCV002004843
NM_000487.6(ARSA):c.224+1G>T	SNV Germline	Chr22:50627555	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1555901108	1 SubmittersRCV002011795
NM_000487.6(ARSA):c.224+2T>A	SNV Germline	Chr22:50627554	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146727518	1 SubmittersRCV002031058
NM_000487.6(ARSA):c.581C>G (p.Pro194Arg)	SNV Germline	Chr22:50626937	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_769492279	1 SubmittersRCV001920712
NM_000487.6(ARSA):c.460G>A (p.Asp154Asn)	SNV Germline	Chr22:50627171	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_199476365	2 SubmittersRCV001920743
NM_000487.6(ARSA):c.1107+1G>A	SNV Germline	Chr22:50625935	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146718906	1 SubmittersRCV001941577
NM_000487.6(ARSA):c.1197C>G (p.His399Gln)	SNV Germline	Chr22:50625592	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_752206330	2 SubmittersRCV002025304
NM_000487.6(ARSA):c.662T>C (p.Phe221Ser)	SNV Germline	Chr22:50626856	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146723107	1 SubmittersRCV001888514
NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter)	SNV Germline	Chr22:50625382	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1209071029	1 SubmittersRCV001953645
NM_000487.6(ARSA):c.826A>T (p.Thr276Ser)	SNV Germline	Chr22:50626619	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_140966324	2 SubmittersRCV002029692
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly)	SNV Germline	Chr22:50626196	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications		rs_551472773	2 SubmittersRCV001980760
NM_000487.6(ARSA):c.731C>A (p.Ser244Ter)	SNV Germline	Chr22:50626714	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_1394861740	1 SubmittersRCV001895276
NM_000487.6(ARSA):c.802G>A (p.Gly268Arg)	SNV Germline	Chr22:50626643	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy Inborn genetic diseases	Criteria Provided Conflicting Classifications		rs_1404723529	3 SubmittersRCV001914136 RCV004044053
NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg)	SNV Germline	Chr22:50625207	Likely pathogenic	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_755974448	2 SubmittersRCV001916305 RCV003395277
NM_000487.6(ARSA):c.1108-1G>C	SNV Germline	Chr22:50625682	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_2146718041	1 SubmittersRCV002222915
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro)	SNV Germline	Chr22:50627383	Conflicting classifications of pathogenicity	Condition: not provided Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications		rs_1190061000	3 SubmittersRCV002247162 RCV003500692 RCV004526919
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)	SNV Germline	Chr22:50625396	Conflicting classifications of pathogenicity	Metachromatic leukodystrophy not specified	Criteria Provided Conflicting Classifications			2 SubmittersRCV003064665 RCV003235764
NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)	SNV Germline	Chr22:50626226	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003064666
NM_000487.6(ARSA):c.436T>C (p.Phe146Leu)	SNV Germline	Chr22:50627195	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003041420
NM_000487.6(ARSA):c.412C>A (p.Pro138Thr)	SNV Germline	Chr22:50627219	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003041421
NM_000487.6(ARSA):c.765G>C (p.Glu255Asp)	SNV Germline	Chr22:50626680	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003052681
NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr)	SNV Germline	Chr22:50625452	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003067265
NM_000487.6(ARSA):c.427T>C (p.Phe143Leu)	SNV Germline	Chr22:50627204	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003061639
NM_000487.6(ARSA):c.301G>T (p.Gly101Cys)	SNV Germline	Chr22:50627330	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002620764
NM_000487.6(ARSA):c.926A>G (p.Glu309Gly)	SNV Germline	Chr22:50626207	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002659128
NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)	SNV Germline	Chr22:50627386	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002716076
NM_000487.6(ARSA):c.970A>T (p.Ile324Phe)	SNV Germline	Chr22:50626163	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002776250
NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys)	SNV Germline	Chr22:50627658	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV002756041
NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)	SNV Germline	Chr22:50625276	Pathogenic/Likely pathogenic	Metachromatic leukodystrophy ARSA-related disorder	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002819939 RCV003418614
NM_000487.6(ARSA):c.251C>G (p.Pro84Arg)	SNV Germline	Chr22:50627380	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002801671
NM_000487.6(ARSA):c.584G>A (p.Trp195Ter)	SNV Germline	Chr22:50626934	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002848202
NM_000487.6(ARSA):c.1196A>G (p.His399Arg)	SNV Germline	Chr22:50625593	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002876808
NM_000487.6(ARSA):c.680C>T (p.Ser227Phe)	SNV Germline	Chr22:50626838	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002982621
NM_000487.6(ARSA):c.574C>T (p.Gln192Ter)	SNV Germline	Chr22:50626944	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV002996828
NM_000487.6(ARSA):c.770A>T (p.Asp257Val)	SNV Germline	Chr22:50626675	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003054290
NM_000487.6(ARSA):c.386G>A (p.Gly129Glu)	SNV Germline	Chr22:50627245	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003047254
NM_000487.6(ARSA):c.620C>A (p.Ala207Asp)	SNV Germline	Chr22:50626898	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter		rs_759098239	2 SubmittersRCV003154875
NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)	SNV Germline	Chr22:50627257	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003318425
NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)	SNV Germline	Chr22:50626708	Conflicting classifications of pathogenicity	not specified Metachromatic leukodystrophy	Criteria Provided Conflicting Classifications			2 SubmittersRCV003331831 RCV003777393
NM_000487.6(ARSA):c.931G>T (p.Gly311Cys)	SNV Germline	Chr22:50626202	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003501561
NM_000487.6(ARSA):c.869G>C (p.Arg290Pro)	SNV Germline	Chr22:50626264	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003501659
NM_000487.6(ARSA):c.1223G>A (p.Ser408Asn)	SNV Germline	Chr22:50625452	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003501565
NM_000487.6(ARSA):c.1107+1G>C	SNV Germline	Chr22:50625935	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003501862
NM_000487.6(ARSA):c.629T>C (p.Leu210Pro)	SNV Germline	Chr22:50626889	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003501755
NM_000487.6(ARSA):c.136T>C (p.Ser46Pro)	SNV Germline	Chr22:50627644	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003501756
NM_000487.6(ARSA):c.764A>C (p.Glu255Ala)	SNV Germline	Chr22:50626681	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003502002
NM_000487.6(ARSA):c.992A>G (p.Glu331Gly)	SNV Germline	Chr22:50626051	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003500315
NM_000487.6(ARSA):c.868C>G (p.Arg290Gly)	SNV Germline	Chr22:50626265	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003500470
NM_000487.6(ARSA):c.928G>A (p.Gly310Ser)	SNV Germline	Chr22:50626205	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003500207
NM_000487.6(ARSA):c.1199T>C (p.Phe400Ser)	SNV Germline	Chr22:50625590	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003500383
NM_000487.6(ARSA):c.676G>T (p.Ala226Ser)	SNV Germline	Chr22:50626842	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003607621
NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln)	SNV Germline	Chr22:50625653	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003607606
NM_000487.6(ARSA):c.475C>T (p.Gln159Ter)	SNV Germline	Chr22:50627043	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003607710
NM_000487.6(ARSA):c.580C>T (p.Pro194Ser)	SNV Germline	Chr22:50626938	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003607708
NM_000487.6(ARSA):c.916A>G (p.Thr306Ala)	SNV Germline	Chr22:50626217	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003607724
NM_000487.6(ARSA):c.928G>T (p.Gly310Cys)	SNV Germline	Chr22:50626205	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003607745
NM_000487.6(ARSA):c.899T>G (p.Leu300Trp)	SNV Germline	Chr22:50626234	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608019
NM_000487.6(ARSA):c.771T>G (p.Asp257Glu)	SNV Germline	Chr22:50626674	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608014
NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter)	SNV Germline	Chr22:50627585	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003607932
NM_000487.6(ARSA):c.225-1G>C	SNV Germline	Chr22:50627407	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608299
NM_000487.6(ARSA):c.135C>G (p.Ser45Arg)	SNV Germline	Chr22:50627645	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608239
NM_000487.6(ARSA):c.908G>T (p.Gly303Val)	SNV Germline	Chr22:50626225	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608337
NM_000487.6(ARSA):c.1282C>T (p.Pro428Ser)	SNV Germline	Chr22:50625393	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608351
NM_000487.6(ARSA):c.412C>G (p.Pro138Ala)	SNV Germline	Chr22:50627219	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608448
NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe)	SNV Germline	Chr22:50625387	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003608382
NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly)	SNV Germline	Chr22:50625615	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003608418
NM_000487.6(ARSA):c.958T>G (p.Trp320Gly)	SNV Germline	Chr22:50626175	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003608378
NM_000487.6(ARSA):c.256C>G (p.Arg86Gly)	SNV Germline	Chr22:50627375	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608531
NM_000487.6(ARSA):c.93C>G (p.Asp31Glu)	SNV Germline	Chr22:50627687	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003608621
NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)	SNV Germline	Chr22:50627004	Pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003607134
NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)	SNV Germline	Chr7:143331243	Likely pathogenic	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal recessive form Metachromatic leukodystrophy	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003782655 RCV004527008 RCV004542250
NM_000487.6(ARSA):c.863C>A (p.Thr288Asn)	SNV Germline	Chr22:50626270	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003817569
NM_000487.6(ARSA):c.133A>G (p.Ser45Gly)	SNV Germline	Chr22:50627647	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV003847516
NM_000487.6(ARSA):c.769G>A (p.Asp257Asn)	SNV Germline	Chr22:50626676	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			2 SubmittersRCV003852078
NM_000487.6(ARSA):c.809T>C (p.Leu270Pro)	SNV Germline	Chr22:50626636	Likely pathogenic	Metachromatic leukodystrophy	Criteria Provided Single Submitter			1 SubmittersRCV004555147

NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)

SNV
Germline

Chr5:78781974

Pathogenic/Likely pathogenic

Mucopolysaccharidosis, type vi, severe
Mucopolysaccharidosis type 6
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA114603

rs_118203941

7 SubmittersRCV000000928 RCV000179701 RCV000779751 RCV000723435

NM_000046.5(ARSB):c.629A>G (p.Tyr210Cys)

SNV
Germline

Chr5:78964477

Pathogenic

Mucopolysaccharidosis type 6
Condition: not provided
Metachromatic leukodystrophy
ARSB-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA114609

rs_118203943

16 SubmittersRCV000000933 RCV000078003 RCV000779747 RCV003904792

NM_000487.6(ARSA):c.465+1G>A

SNV
Germline

Chr22:50627165

Pathogenic

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy, juvenile type
Condition: not provided
Metachromatic leukodystrophy
Intellectual disability
Neurodevelopmental disorder
Inborn genetic diseases
See cases
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA215122

rs_80338815

39 SubmittersRCV000003194 RCV000003192 RCV000335617 RCV000020319 RCV001251910 RCV001778645 RCV001267384 RCV002251862 RCV003934795

NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)

SNV
Germline

Chr22:50625392

Pathogenic

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy, juvenile type
Arylsulfatase a, allele a
Metachromatic leukodystrophy
Condition: not provided
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA115956

rs_28940893

26 SubmittersRCV000003197 RCV000003195 RCV000003196 RCV000020314 RCV000392246 RCV001251909

NM_000487.6(ARSA):c.302G>A (p.Gly101Asp)

SNV
Germline

Chr22:50627329

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115958

rs_74315455

8 SubmittersRCV000003198 RCV000020318 RCV000724149

NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)

SNV
Germline

Chr22:50627338

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115960

rs_74315456

16 SubmittersRCV000003199 RCV000020317 RCV000723374

NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)

SNV
Germline

Chr22:50626976

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy
Condition: not provided
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA115962

rs_74315457

25 SubmittersRCV000003202 RCV000003203 RCV000020320 RCV000657846 RCV001267385

NM_000487.6(ARSA):c.1210+1G>A

SNV
Germline

Chr22:50625578

Pathogenic

Metachromatic leukodystrophy, juvenile type
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115964

rs_80338820

9 SubmittersRCV000003204 RCV000020312 RCV000723835

NM_000487.6(ARSA):c.931G>A (p.Gly311Ser)

SNV
Germline

Chr22:50626202

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, late infantile form
Pseudoarylsulfatase A deficiency
Metachromatic leukodystrophy
Abnormality of the nervous system
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115967

rs_74315459

11 SubmittersRCV000003206 RCV000714802 RCV000666302 RCV001813940 RCV002286693

NM_000487.6(ARSA):c.263G>A (p.Gly88Asp)

SNV
Germline

Chr22:50627368

Pathogenic

Metachromatic leukodystrophy, severe
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA115969

rs_74315460

2 SubmittersRCV000003207 RCV001353057

NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)

SNV
Germline

Chr22:50627261

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided
Inborn genetic diseases
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA220987

rs_74315461

8 SubmittersRCV000003209 RCV000078945 RCV000623394 RCV003415633

NM_000487.6(ARSA):c.413C>T (p.Pro138Leu)

SNV
Germline

Chr22:50627218

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy, severe
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA115977

rs_74315462

5 SubmittersRCV000003210 RCV000675081

NM_000487.6(ARSA):c.467G>A (p.Gly156Asp)

SNV
Germline

Chr22:50627051

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA278026

rs_74315463

4 SubmittersRCV000003212

NM_000487.6(ARSA):c.506C>G (p.Pro169Arg)

SNV
Germline

Chr22:50627012

Pathogenic

Metachromatic leukodystrophy

No Assertion Criteria Provided

CA278028

rs_74315465

1 SubmittersRCV000003214

NM_000487.6(ARSA):c.511G>A (p.Asp171Asn)

SNV
Germline

Chr22:50627007

Conflicting classifications of pathogenicity

Arylsulfatase A pseudodeficiency
Metachromatic leukodystrophy
not specified
Condition: not provided
Intellectual disability

Criteria Provided
Conflicting Classifications

CA115981

rs_74315466

9 SubmittersRCV000003215 RCV000540770 RCV002265546 RCV003480017 RCV001251908

NM_000487.6(ARSA):c.641C>T (p.Ala214Val)

SNV
Germline

Chr22:50626877

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA340036

rs_74315467

10 SubmittersRCV000003216 RCV000723836

NM_000487.6(ARSA):c.677C>T (p.Ala226Val)

SNV
Germline

Chr22:50626841

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA278030

rs_74315468

5 SubmittersRCV000003217 RCV000343115

NM_000487.6(ARSA):c.736C>T (p.Arg246Cys)

SNV
Germline

Chr22:50626709

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Metachromatic leukodystrophy, juvenile type

Criteria Provided
Multiple Submitters
No Conflicts

CA278034

rs_74315470

8 SubmittersRCV000003219 RCV003993733

NM_000487.6(ARSA):c.739G>A (p.Gly247Arg)

SNV
Germline

Chr22:50626706

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, severe
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115983

rs_74315471

12 SubmittersRCV000003220 RCV000020321 RCV000723992

NM_000487.6(ARSA):c.827C>T (p.Thr276Met)

SNV
Germline

Chr22:50626618

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, severe
Metachromatic leukodystrophy
Condition: not provided
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA115985

rs_74315472

12 SubmittersRCV000003221 RCV000169246 RCV000991546 RCV003904799

NM_000487.6(ARSA):c.868C>T (p.Arg290Cys)

SNV
Germline

Chr22:50626265

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Spastic ataxia

Criteria Provided
Multiple Submitters
No Conflicts

CA278036

rs_74315473

6 SubmittersRCV000003223 RCV001642197

NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr)

SNV
Germline

Chr22:50626243

Pathogenic

Metachromatic leukodystrophy, severe
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA115987

rs_74315474

3 SubmittersRCV000003224 RCV000492011

NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)

SNV
Germline

Chr22:50626033

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, severe
Condition: not provided
Leukodystrophy
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115989

rs_74315475

14 SubmittersRCV000003226 RCV000413321 RCV000414806 RCV000169024

NM_000487.6(ARSA):c.1114C>T (p.Arg372Trp)

SNV
Germline

Chr22:50625675

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, severe
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115991

rs_74315476

9 SubmittersRCV000003227 RCV000078933 RCV000723522

NM_000487.6(ARSA):c.1115G>A (p.Arg372Gln)

SNV
Germline

Chr22:50625674

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, mild
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115993

rs_74315477

8 SubmittersRCV000003228 RCV000544790

NM_000487.6(ARSA):c.1136C>T (p.Pro379Leu)

SNV
Germline

Chr22:50625653

Pathogenic

Arylsulfatase a pseudodeficiency, severe
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115995

rs_74315478

4 SubmittersRCV000003229 RCV003500499 RCV002512051

NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)

SNV
Germline

Chr22:50625639

Pathogenic/Likely pathogenic

Arylsulfatase a pseudodeficiency, intermediate
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115997

rs_74315479

10 SubmittersRCV000003230 RCV000078936 RCV000723624

NM_000487.6(ARSA):c.1174C>T (p.Arg392Trp)

SNV
Germline

Chr22:50625615

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278038

rs_74315480

7 SubmittersRCV000003231 RCV000723375

NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile)

SNV
Germline

Chr22:50625443

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, mild
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA115999

rs_74315481

4 SubmittersRCV000003233 RCV000020313

NM_000487.6(ARSA):c.410T>C (p.Leu137Pro)

SNV
Germline

Chr22:50627221

Pathogenic

Metachromatic leukodystrophy, adult type

No Assertion Criteria Provided

CA116003

rs_121434215

1 SubmittersRCV000003235

NM_000487.6(ARSA):c.862A>C (p.Thr288Pro)

SNV
Germline

Chr22:50626271

Pathogenic

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA116005

rs_28940894

4 SubmittersRCV000003236 RCV000795605

NM_000487.6(ARSA):c.763G>A (p.Glu255Lys)

SNV
Germline

Chr22:50626682

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA116007

rs_74315483

8 SubmittersRCV000003237 RCV000169048 RCV000364541

NM_000487.6(ARSA):c.1229C>T (p.Thr410Ile)

SNV
Germline

Chr22:50625446

Likely pathogenic

Metachromatic leukodystrophy, adult type
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA116009

rs_28940895

3 SubmittersRCV000003238 RCV001376978

NM_000487.6(ARSA):c.905G>T (p.Cys302Phe)

SNV
Germline

Chr22:50626228

Pathogenic

Metachromatic leukodystrophy, late infantile form
Condition: not provided

No Assertion Criteria Provided

CA116011

rs_74315484

2 SubmittersRCV000003239 RCV000058989

NM_000487.6(ARSA):c.1279C>A (p.Pro427Thr)

SNV
Germline

Chr22:50625396

Pathogenic

Metachromatic leukodystrophy, juvenile type

No Assertion Criteria Provided

CA116013

rs_74315485

1 SubmittersRCV000003240

NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)

SNV
Germline

Chr10:71819860

Likely pathogenic

Gaucher disease due to saposin C deficiency
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA123069

rs_121918110

2 SubmittersRCV000014301 RCV003317034

NM_000487.6(ARSA):c.257G>A (p.Arg86Gln)

SNV
Germline

Chr22:50627374

Pathogenic

Metachromatic leukodystrophy, late-onset
Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA115965

rs_74315458

15 SubmittersRCV000003205 RCV000020316 RCV000723563

NM_000487.6(ARSA):c.769G>C (p.Asp257His)

SNV
Germline

Chr22:50626676

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA341708

rs_80338819

10 SubmittersRCV000020322 RCV000255092

NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys)

SNV
Germline

Chr22:50625633

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA218986

rs_199476370

7 SubmittersRCV000058945 RCV001329307 RCV003387751

NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln)

SNV
Germline

Chr22:50625614

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA218988

rs_199476391

6 SubmittersRCV000058946 RCV000150058

NM_000487.6(ARSA):c.1195C>T (p.His399Tyr)

SNV
Germline

Chr22:50625594

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA218990

rs_199476376

4 SubmittersRCV000058947 RCV000672049

NM_000487.6(ARSA):c.1289T>C (p.Leu430Pro)

SNV
Germline

Chr22:50625386

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA218994

rs_199476392

5 SubmittersRCV000058949 RCV002514296

NM_000487.6(ARSA):c.1292A>C (p.Tyr431Ser)

SNV
Germline

Chr22:50625383

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA218996

rs_199476380

3 SubmittersRCV000058950 RCV001854228

NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly)

SNV
Germline

Chr22:50625204

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA219000

rs_199476388

5 SubmittersRCV000058952 RCV000667096 RCV002222376

NM_000487.6(ARSA):c.209T>C (p.Leu70Pro)

SNV
Germline

Chr22:50627571

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219004

rs_199476351

2 SubmittersRCV000058954 RCV003500500

NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)

SNV
Germline

Chr22:50627375

Pathogenic

Condition: not provided
Metachromatic leukodystrophy
Frontotemporal dementia

Criteria Provided
Multiple Submitters
No Conflicts

CA219008

rs_199476352

6 SubmittersRCV000058956 RCV000409776 RCV001090098

NM_000487.6(ARSA):c.302G>T (p.Gly101Val)

SNV
Germline

Chr22:50627329

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219014

rs_74315455

4 SubmittersRCV000058960 RCV000803574

NM_000487.6(ARSA):c.412C>T (p.Pro138Ser)

SNV
Germline

Chr22:50627219

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219018

rs_60504011

3 SubmittersRCV000058962 RCV001854229

NM_000487.6(ARSA):c.418C>G (p.His140Asp)

SNV
Germline

Chr22:50627213

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219020

rs_199476358

6 SubmittersRCV000058963 RCV000667286

NM_000487.6(ARSA):c.433C>G (p.Arg145Gly)

SNV
Germline

Chr22:50627198

Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219022

rs_199476373

2 SubmittersRCV000058964 RCV001242589

NM_000487.6(ARSA):c.449C>T (p.Pro150Leu)

SNV
Germline

Chr22:50627182

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219024

rs_199476375

8 SubmittersRCV000058965 RCV000631449

NM_000487.6(ARSA):c.460G>T (p.Asp154Tyr)

SNV
Germline

Chr22:50627171

Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219026

rs_199476365

2 SubmittersRCV000058966 RCV002513773

NM_000487.6(ARSA):c.470C>T (p.Pro157Leu)

SNV
Germline

Chr22:50627048

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219030

rs_74315464

4 SubmittersRCV000058968 RCV000778670

NM_000487.6(ARSA):c.577C>A (p.Pro193Thr)

SNV
Germline

Chr22:50626941

Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219040

rs_199476374

3 SubmittersRCV000058973 RCV003500501

NM_000487.6(ARSA):c.608A>G (p.Tyr203Cys)

SNV
Germline

Chr22:50626910

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219044

rs_199476345

4 SubmittersRCV000058975 RCV000664907

NM_000487.6(ARSA):c.640G>C (p.Ala214Pro)

SNV
Germline

Chr22:50626878

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219046

rs_199476341

4 SubmittersRCV000058976 RCV001380269

NM_000487.6(ARSA):c.737G>A (p.Arg246His)

SNV
Germline

Chr22:50626708

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219052

rs_199476366

8 SubmittersRCV000058979 RCV000150061

NM_000487.6(ARSA):c.746T>C (p.Phe249Ser)

SNV
Germline

Chr22:50626699

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219054

rs_199476384

5 SubmittersRCV000058980 RCV000524971

NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr)

SNV
Germline

Chr22:50626690

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219056

rs_199476367

2 SubmittersRCV000058981 RCV002247460

NM_000487.6(ARSA):c.847G>T (p.Asp283Tyr)

SNV
Germline

Chr22:50626598

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219058

rs_199476386

5 SubmittersRCV000058982 RCV000668155

NM_000487.6(ARSA):c.851A>G (p.Asn284Ser)

SNV
Germline

Chr22:50626594

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219060

rs_199476342

4 SubmittersRCV000058983 RCV002283451

NM_000487.6(ARSA):c.869G>A (p.Arg290His)

SNV
Germline

Chr22:50626264

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy
ARSA-related disorder
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA219062

rs_199476355

12 SubmittersRCV000058984 RCV000668693 RCV003905027 RCV004019068

NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)

SNV
Germline

Chr22:50626250

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219064

rs_199476349

10 SubmittersRCV000058985 RCV000150060

NM_000487.6(ARSA):c.884G>A (p.Gly295Asp)

SNV
Germline

Chr22:50626249

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219066

rs_199476387

3 SubmittersRCV000058986 RCV001150625

NM_000487.6(ARSA):c.899T>C (p.Leu300Ser)

SNV
Germline

Chr22:50626234

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219070

rs_199476389

3 SubmittersRCV000058988 RCV001854230

NM_000487.6(ARSA):c.917C>T (p.Thr306Met)

SNV
Germline

Chr22:50626216

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219074

rs_199476359

8 SubmittersRCV000058991 RCV000578460

NM_000487.6(ARSA):c.922T>C (p.Tyr308His)

SNV
Germline

Chr22:50626211

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219078

rs_199476379

3 SubmittersRCV000058993 RCV000670369

NM_000487.6(ARSA):c.925G>A (p.Glu309Lys)

SNV
Germline

Chr22:50626208

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219080

rs_199476360

7 SubmittersRCV000058994 RCV001039188

NM_000487.6(ARSA):c.929G>A (p.Gly310Asp)

SNV
Germline

Chr22:50626204

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219082

rs_199476356

3 SubmittersRCV000058995 RCV000695949

NM_000487.6(ARSA):c.929G>T (p.Gly310Val)

SNV
Germline

Chr22:50626204

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA219084

rs_199476356

2 SubmittersRCV000058996 RCV000995697

NM_000487.6(ARSA):c.938G>A (p.Arg313Gln)

SNV
Germline

Chr22:50626195

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA219086

rs_199476382

8 SubmittersRCV000058997 RCV000984245

NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)

SNV
Germline

Chr22:50626191

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219088

rs_199476390

4 SubmittersRCV000058998 RCV001004415

NM_000487.6(ARSA):c.946G>A (p.Ala316Thr)

SNV
Germline

Chr22:50626187

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA219090

rs_199476368

4 SubmittersRCV000058999 RCV000665708

NM_000487.6(ARSA):c.1108-2A>G

SNV
Germline

Chr22:50625683

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278420

rs_398123411

7 SubmittersRCV000078932 RCV000482171

NM_000487.6(ARSA):c.1211-10C>T

SNV
Germline

Chr22:50625474

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA220986

rs_398123413

3 SubmittersRCV000078939 RCV001087723 RCV003935025

NM_000487.6(ARSA):c.986C>T (p.Thr329Ile)

SNV
Germline

Chr22:50626057

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278425

rs_398123418

4 SubmittersRCV000078952 RCV000723561

NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)

SNV
Germline

Chr22:50626052

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278427

rs_398123419

4 SubmittersRCV000078953 RCV000723562

NM_000487.6(ARSA):c.465G>A (p.Gln155=)

SNV
Germline

Chr22:50627166

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA233477

rs_199476377

3 SubmittersRCV000152793 RCV001582624 RCV001850084

NM_000487.6(ARSA):c.979+1G>A

SNV
Germline

Chr22:50626153

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA278479

rs_754722529

5 SubmittersRCV000169323 RCV003151752

NM_000487.6(ARSA):c.640G>A (p.Ala214Thr)

SNV
Germline

Chr22:50626878

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA243175

rs_199476341

4 SubmittersRCV000177069 RCV002517708

NM_000487.6(ARSA):c.901C>G (p.Arg301Gly)

SNV
Germline

Chr22:50626232

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA245949

rs_794727704

3 SubmittersRCV000178780 RCV000691986

NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys)

SNV
Germline

Chr22:50625228

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA247540

rs_148352371

7 SubmittersRCV000180165 RCV000388131 RCV003927699

NM_000487.6(ARSA):c.474C>A (p.Cys158Ter)

SNV
Germline

Chr22:50627044

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10325000

rs_768028181

7 SubmittersRCV000254939 RCV000984244

NM_000487.6(ARSA):c.854+1G>T

SNV
Germline

Chr22:50626590

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603518

rs_886041911

2 SubmittersRCV000263067 RCV001855074

NM_000487.6(ARSA):c.346C>T (p.Arg116Ter)

SNV
Germline

Chr22:50627285

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10603751

rs_761860059

12 SubmittersRCV000364716 RCV000984243

NM_000487.6(ARSA):c.930C>T (p.Gly310=)

SNV
Germline

Chr22:50626203

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324871

rs_767751622

3 SubmittersRCV000282325 RCV002059187

NM_000487.6(ARSA):c.918G>A (p.Thr306=)

SNV
Germline

Chr22:50626215

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324877

rs_370250328

3 SubmittersRCV000306878 RCV001078705

NM_002778.4(PSAP):c.1172C>T (p.Thr391Met)

SNV
Germline

Chr10:71819734

Conflicting classifications of pathogenicity

Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided
Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547470

rs_202125074

6 SubmittersRCV000349589 RCV000350842 RCV000389048 RCV001044241 RCV002262951 RCV001833438 RCV002520627

NM_002778.4(PSAP):c.1056C>T (p.Ser352=)

SNV
Germline

Chr10:71819850

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Combined PSAP deficiency
Galactosylceramide beta-galactosidase deficiency
Atypical Gaucher Disease
Sphingolipid activator protein 1 deficiency
Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency

Criteria Provided
Conflicting Classifications

CA5547494

rs_138328594

2 SubmittersRCV000264576 RCV000303307 RCV000304947 RCV000361976 RCV000973449 RCV001103918 RCV001103919

NM_002778.4(PSAP):c.1278C>T (p.Asn426=)

SNV
Germline

Chr10:71819537

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

CA5547413

rs_777227555

4 SubmittersRCV000259660 RCV000299749 RCV000356874 RCV000932186 RCV001272671 RCV003330636

NM_002778.4(PSAP):c.1088C>T (p.Thr363Met)

SNV
Germline

Chr10:71819818

Conflicting classifications of pathogenicity

Gaucher disease due to saposin C deficiency
Combined PSAP deficiency
Krabbe disease due to saposin A deficiency
Sphingolipid activator protein 1 deficiency
Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547484

rs_140066253

4 SubmittersRCV000301263 RCV000335258 RCV000390963 RCV000390949 RCV001356155 RCV001828310

NM_002778.4(PSAP):c.798G>A (p.Ala266=)

SNV
Germline

Chr10:71821987

Conflicting classifications of pathogenicity

Krabbe disease due to saposin A deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA5547598

rs_199672678

3 SubmittersRCV000270227 RCV000310085 RCV000313643 RCV000362418 RCV001833439

NM_002778.4(PSAP):c.167C>G (p.Pro56Arg)

SNV
Germline

Chr10:71834379

Conflicting classifications of pathogenicity

Galactosylceramide beta-galactosidase deficiency
Atypical Gaucher Disease
Combined PSAP deficiency
Metachromatic leukodystrophy
Sphingolipid activator protein 1 deficiency
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547881

rs_571773332

3 SubmittersRCV000274090 RCV000272506 RCV000327586 RCV000386828 RCV002522167 RCV004021479

NM_000487.6(ARSA):c.225-5C>T

SNV
Germline

Chr22:50627411

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10325086

rs_192013394

2 SubmittersRCV000331507

NM_000487.6(ARSA):c.659C>T (p.Pro220Leu)

SNV
Germline

Chr22:50626859

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324952

rs_201251634

4 SubmittersRCV000301678

NM_000487.6(ARSA):c.*103C>T

SNV
Germline

Chr22:50625042

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA10653700

rs_146160737

2 SubmittersRCV000382356 RCV003950192

NM_000487.6(ARSA):c.1211-15T>C

SNV
Germline

Chr22:50625479

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324770

rs_374150980

2 SubmittersRCV000393936

NM_000487.6(ARSA):c.369C>T (p.Ala123=)

SNV
Germline

Chr22:50627262

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10653701

rs_886057657

2 SubmittersRCV000389729

NM_000487.6(ARSA):c.663C>T (p.Phe221=)

SNV
Germline

Chr22:50626855

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA10324951

rs_754484249

3 SubmittersRCV000359843 RCV003950193

NM_000487.6(ARSA):c.-131G>A

SNV
Germline

Chr22:50627910

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA10654226

rs_551316995

2 SubmittersRCV000373219 RCV003957769

NM_000487.6(ARSA):c.1210+1G>T

SNV
Germline

Chr22:50625578

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042034

rs_80338820

2 SubmittersRCV000411066

NM_000487.6(ARSA):c.526C>T (p.Gln176Ter)

SNV
Germline

Chr22:50626992

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA10324986

rs_762284875

3 SubmittersRCV000409359

NM_000487.6(ARSA):c.466-2A>G

SNV
Germline

Chr22:50627054

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA16042043

rs_1057517044

3 SubmittersRCV000409478

NM_000487.6(ARSA):c.421C>T (p.Gln141Ter)

SNV
Germline

Chr22:50627210

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA16042044

rs_1057516730

2 SubmittersRCV000410152

NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)

SNV
Germline

Chr22:50626154

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10324863

rs_148092995

7 SubmittersRCV000414752 RCV000984246 RCV002523904

NM_002778.4(PSAP):c.409C>G (p.Leu137Val)

SNV
Germline

Chr10:71829044

Conflicting classifications of pathogenicity

Condition: not provided
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Metachromatic leukodystrophy
PSAP-related disorder

Criteria Provided
Conflicting Classifications

CA5547774

rs_377027316

5 SubmittersRCV000484673 RCV001084808 RCV001335064 RCV001272680 RCV003902722

NM_000487.6(ARSA):c.466-7G>C

SNV
Germline

Chr22:50627059

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Conflicting Classifications

CA10325001

rs_6151414

8 SubmittersRCV000487951 RCV001083981 RCV003972814

NM_000487.6(ARSA):c.926A>T (p.Glu309Val)

SNV
Germline

Chr22:50626207

Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412174579

rs_1085308016

2 SubmittersRCV000489590 RCV002527037

NM_000487.6(ARSA):c.1274A>G (p.His425Arg)

SNV
Unknown

Chr22:50625401

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412168978

rs_1135401757

1 SubmittersRCV000496135

NM_000487.6(ARSA):c.852T>A (p.Asn284Lys)

SNV
Unknown

Chr22:50626593

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412175586

rs_1135401756

1 SubmittersRCV000496194

NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys)

SNV
Germline

Chr22:50626844

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

CA10324950

rs_527640350

4 SubmittersRCV000496179

NM_000487.6(ARSA):c.545C>G (p.Pro182Arg)

SNV
Unknown

Chr22:50626973

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412177603

rs_1135401755

1 SubmittersRCV000496198

NM_000487.6(ARSA):c.229G>C (p.Ala77Pro)

SNV
Unknown

Chr22:50627402

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412181963

rs_763880042

1 SubmittersRCV000496166

NM_000487.6(ARSA):c.98T>C (p.Leu33Pro)

SNV
Unknown

Chr22:50627682

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412183183

rs_1135401754

1 SubmittersRCV000496199

NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)

SNV
Germline

Chr22:50626196

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA325531338

rs_551472773

10 SubmittersRCV000501028 RCV000760416

NM_002778.4(PSAP):c.128G>A (p.Gly43Glu)

SNV
Germline

Chr10:71834418

Conflicting classifications of pathogenicity

Condition: not provided
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA5547892

rs_558427025

4 SubmittersRCV000513446 RCV001088093 RCV001829458 RCV004023457

NM_002778.4(PSAP):c.10C>G (p.Leu4Val)

SNV
Germline

Chr10:71851212

Conflicting classifications of pathogenicity

Condition: not provided
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
PSAP-related disorder

Criteria Provided
Conflicting Classifications

CA5547944

rs_574280149

4 SubmittersRCV000512836 RCV001087790 RCV001834647 RCV003960205

NM_002778.4(PSAP):c.623T>G (p.Ile208Ser)

SNV
Germline

Chr10:71828111

Conflicting classifications of pathogenicity

Condition: not provided
Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy
PSAP-related disorder

Criteria Provided
Conflicting Classifications

CA5547714

rs_200319381

5 SubmittersRCV000514444 RCV001081218 RCV001272678 RCV003962415

NM_000487.6(ARSA):c.960G>A (p.Trp320Ter)

SNV
Germline

Chr22:50626173

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

CA412174356

rs_1375757476

4 SubmittersRCV000588032

NM_000487.6(ARSA):c.245G>A (p.Arg82Gln)

SNV
Unknown

Chr22:50627386

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA10325076

rs_769892461

1 SubmittersRCV000626198

NM_000487.6(ARSA):c.679T>C (p.Ser227Pro)

SNV
Germline

Chr22:50626839

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

CA412176900

rs_1555900849

1 SubmittersRCV000631448

NM_000487.6(ARSA):c.1108-3C>G

SNV
Germline

Chr22:50625684

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_1001100248

3 SubmittersRCV000667567

NM_000487.6(ARSA):c.877C>T (p.Arg293Ter)

SNV
Germline

Chr22:50626256

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555900678

3 SubmittersRCV000674946

NM_000487.6(ARSA):c.991G>A (p.Glu331Lys)

SNV
Germline

Chr22:50626052

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_398123419

5 SubmittersRCV000671936 RCV002282317 RCV002531300

NM_000487.6(ARSA):c.224+1G>A

SNV
Germline

Chr22:50627555

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555901108

2 SubmittersRCV000668533

NM_000487.6(ARSA):c.980-2A>C

SNV
Unknown

Chr22:50626065

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_769152137

2 SubmittersRCV000672005

NM_000487.6(ARSA):c.225-2A>G

SNV
Germline

Chr22:50627408

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555901083

3 SubmittersRCV000674241

NM_000487.6(ARSA):c.465+2T>A

SNV
Unknown

Chr22:50627164

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1555900989

1 SubmittersRCV000669056

NM_000487.6(ARSA):c.251C>T (p.Pro84Leu)

SNV
Germline

Chr22:50627380

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_6151411

6 SubmittersRCV000672436

NM_000487.6(ARSA):c.2T>C (p.Met1Thr)

SNV
Unknown

Chr22:50627778

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1555901170

1 SubmittersRCV000668820

NM_000487.6(ARSA):c.449C>G (p.Pro150Arg)

SNV
Germline

Chr22:50627182

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_199476375

3 SubmittersRCV000698866

NM_000487.6(ARSA):c.157C>T (p.Gln53Ter)

SNV
Germline

Chr22:50627623

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1603445026

1 SubmittersRCV000807270

NM_000487.6(ARSA):c.1487C>T (p.Thr496Ile)

SNV
Germline

Chr22:50625188

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201085386

4 SubmittersRCV000902745 RCV002269326

NM_000487.6(ARSA):c.1325A>G (p.Asn442Ser)

SNV
Germline

Chr22:50625350

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_6151427

4 SubmittersRCV002051904 RCV000901101

NM_000487.6(ARSA):c.279C>T (p.Val93=)

SNV
Germline

Chr22:50627352

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_756760904

3 SubmittersRCV001478188

NM_002778.4(PSAP):c.1146C>T (p.Cys382=)

SNV
Germline

Chr10:71819760

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Sphingolipid activator protein 1 deficiency
Combined PSAP deficiency
Gaucher disease due to saposin C deficiency
Krabbe disease due to saposin A deficiency

Criteria Provided
Conflicting Classifications

rs_573095617

3 SubmittersRCV001272673 RCV000943827 RCV001107536 RCV001107537 RCV001107538

NM_000487.6(ARSA):c.1366C>T (p.Gln456Ter)

SNV
Germline

Chr22:50625309

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2082644196

1 SubmittersRCV001172255

NM_000487.6(ARSA):c.931G>C (p.Gly311Arg)

SNV
Germline

Chr22:50626202

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_74315459

1 SubmittersRCV001172253

NM_000487.6(ARSA):c.827C>A (p.Thr276Lys)

SNV
Germline

Chr22:50626618

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_74315472

1 SubmittersRCV001172252

NM_000487.6(ARSA):c.712C>T (p.Gln238Ter)

SNV
Germline

Chr22:50626733

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_751026400

3 SubmittersRCV001172251

NM_000487.6(ARSA):c.371G>A (p.Gly124Asp)

SNV
Germline

Chr22:50627260

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082689435

2 SubmittersRCV001172249

NM_000487.6(ARSA):c.335T>A (p.Val112Asp)

SNV
Germline

Chr22:50627296

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2082690324

1 SubmittersRCV001172248

NM_000487.6(ARSA):c.179G>C (p.Arg60Pro)

SNV
Germline

Chr22:50627601

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_750005732

2 SubmittersRCV001172247 RCV001759675

NM_000487.6(ARSA):c.685-1G>A

SNV
Germline

Chr22:50626761

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2082676596

1 SubmittersRCV001172250

NM_000487.6(ARSA):c.677C>A (p.Ala226Asp)

SNV
Germline

Chr22:50626841

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_74315468

1 SubmittersRCV000995698

NM_002778.4(PSAP):c.645C>A (p.Asn215Lys)

SNV
Germline

Chr10:71828089

Pathogenic

Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_770171865

2 SubmittersRCV001063288 RCV001827403

NM_002778.4(PSAP):c.1A>G (p.Met1Val)

SNV
Germline

Chr10:71851221

Pathogenic

Sphingolipid activator protein 1 deficiency
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918106

3 SubmittersRCV001066448 RCV001833645

NM_000487.6(ARSA):c.1493G>T (p.Arg498Leu)

SNV
Germline

Chr22:50625182

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_6151428

5 SubmittersRCV001060881 RCV001759817

NM_000487.6(ARSA):c.592G>A (p.Gly198Arg)

SNV
Germline

Chr22:50626926

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_144393886

5 SubmittersRCV001059607 RCV002553864

NM_000487.6(ARSA):c.442G>A (p.Gly148Ser)

SNV
Germline

Chr22:50627189

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1188592346

2 SubmittersRCV001062955

NM_000487.6(ARSA):c.433C>T (p.Arg145Ter)

SNV
Germline

Chr22:50627198

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_199476373

3 SubmittersRCV001042235 RCV003898047

NM_000487.6(ARSA):c.855-1G>A

SNV
Germline

Chr22:50626279

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_754898479

3 SubmittersRCV001042683

NM_000487.6(ARSA):c.684+1G>A

SNV
Germline

Chr22:50626833

Pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_146371968

8 SubmittersRCV001090367 RCV001174677

NM_000487.6(ARSA):c.*15G>A

SNV
Germline

Chr22:50625130

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_377187248

2 SubmittersRCV001146320 RCV001561920

NM_000487.6(ARSA):c.434G>A (p.Arg145Gln)

SNV
Germline

Chr22:50627197

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_551548107

3 SubmittersRCV001144538

NM_000487.6(ARSA):c.1210+13C>T

SNV
Germline

Chr22:50625566

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_6151426

2 SubmittersRCV001149124

NM_000487.6(ARSA):c.225-4G>A

SNV
Germline

Chr22:50627410

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_372937480

2 SubmittersRCV001146460

NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)

SNV
Germline

Chr22:50626208

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_199476360

2 SubmittersRCV001193048

NM_000487.6(ARSA):c.854+1G>A

SNV
Germline

Chr22:50626590

Pathogenic

Metachromatic leukodystrophy
Metachromatic leukodystrophy, severe

Criteria Provided
Multiple Submitters
No Conflicts

rs_886041911

3 SubmittersRCV001192373 RCV002221160

NM_000487.6(ARSA):c.1447G>T (p.Glu483Ter)

SNV
Germline

Chr22:50625228

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_148352371

2 SubmittersRCV001211652

NM_000487.6(ARSA):c.905G>A (p.Cys302Tyr)

SNV
Germline

Chr22:50626228

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_74315484

2 SubmittersRCV001237276

NM_000487.6(ARSA):c.413C>A (p.Pro138His)

SNV
Germline

Chr22:50627218

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_74315462

1 SubmittersRCV001248156

NM_000487.6(ARSA):c.1378C>T (p.Gln460Ter)

SNV
Germline

Chr22:50625297

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_973061258

1 SubmittersRCV001250463

NM_000487.6(ARSA):c.1200C>T (p.Phe400=)

SNV
Germline

Chr22:50625589

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1175674325

2 SubmittersRCV001250462

NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro)

SNV
Germline

Chr22:50625964

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Single Submitter

rs_2082658031

3 SubmittersRCV001250460 RCV001573988

NM_000487.6(ARSA):c.1007T>C (p.Leu336Pro)

SNV
Germline

Chr22:50626036

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2082660121

1 SubmittersRCV001250459

NM_000487.6(ARSA):c.700C>T (p.Gln234Ter)

SNV
Germline

Chr22:50626745

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2082676249

1 SubmittersRCV001250457

NM_000487.6(ARSA):c.413C>G (p.Pro138Arg)

SNV
Germline

Chr22:50627218

Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_74315462

2 SubmittersRCV003607419 RCV001268142

NM_002778.4(PSAP):c.1137G>C (p.Glu379Asp)

SNV
Germline

Chr10:71819769

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Condition: not provided
Inborn genetic diseases
Sphingolipid activator protein 1 deficiency

Criteria Provided
Conflicting Classifications

rs_754680319

4 SubmittersRCV001280270 RCV003481049 RCV003355353 RCV002537887

NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)

SNV
Germline

Chr10:71819830

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Gaucher disease due to saposin C deficiency
Sphingolipid activator protein 1 deficiency

Criteria Provided
Multiple Submitters
No Conflicts

rs_765744298

3 SubmittersRCV001280271 RCV001449850 RCV002541741

NM_000487.6(ARSA):c.581C>A (p.Pro194His)

SNV
Germline

Chr22:50626937

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_769492279

2 SubmittersRCV001290419

NM_000487.6(ARSA):c.607T>C (p.Tyr203His)

SNV
Germline

Chr22:50626911

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2082680103

4 SubmittersRCV001290420

NM_000487.6(ARSA):c.979+8C>T

SNV
Germline

Chr22:50626146

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_746862304

2 SubmittersRCV001329926

NM_000487.6(ARSA):c.385G>A (p.Gly129Arg)

SNV
Germline

Chr22:50627246

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_753872402

2 SubmittersRCV001345265

NM_000487.6(ARSA):c.901C>T (p.Arg301Trp)

SNV
Germline

Chr22:50626232

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_794727704

4 SubmittersRCV001353058 RCV002547576

NM_000487.6(ARSA):c.701A>G (p.Gln234Arg)

SNV
Germline

Chr22:50626744

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

rs_748583298

3 SubmittersRCV001379881 RCV004526847

NM_000487.6(ARSA):c.338T>C (p.Leu113Pro)

SNV
Germline

Chr22:50627293

Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_777431148

5 SubmittersRCV001574994 RCV001376979

NM_000487.6(ARSA):c.160C>G (p.Leu54Val)

SNV
Germline

Chr22:50627620

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1410632651

2 SubmittersRCV001377180

NM_000487.6(ARSA):c.1107+1G>T

SNV
Germline

Chr22:50625935

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146718906

1 SubmittersRCV001382884

NM_000487.6(ARSA):c.685-2A>G

SNV
Germline

Chr22:50626762

Pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1490196552

3 SubmittersRCV001380268 RCV003324831

NM_000487.6(ARSA):c.891C>T (p.Ser297=)

SNV
Germline

Chr22:50626242

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_770536697

2 SubmittersRCV001498448

NM_000487.6(ARSA):c.178C>T (p.Arg60Trp)

SNV
Germline

Chr22:50627602

Pathogenic/Likely pathogenic

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_867538940

3 SubmittersRCV001557720 RCV003388025

NM_000487.6(ARSA):c.276C>T (p.Gly92=)

SNV
Germline

Chr22:50627355

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_978006787

2 SubmittersRCV001559153

NM_000487.6(ARSA):c.488G>C (p.Cys163Ser)

SNV
Germline

Chr22:50627030

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1430695346

1 SubmittersRCV001580606

NM_000487.6(ARSA):c.633G>A (p.Met211Ile)

SNV
Germline

Chr22:50626885

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_773059458

3 SubmittersRCV001620225 RCV001866259

NM_000487.6(ARSA):c.1187A>C (p.Tyr396Ser)

SNV
Germline

Chr22:50625602

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146717660

1 SubmittersRCV001733823

NM_000487.6(ARSA):c.1238A>G (p.Asp413Gly)

SNV
Germline

Chr22:50625437

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1383481612

2 SubmittersRCV001775249

NM_000487.6(ARSA):c.244C>T (p.Arg82Trp)

SNV
Germline

Chr22:50627387

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1313802305

3 SubmittersRCV001785963 RCV003319478

NM_000487.6(ARSA):c.842C>T (p.Thr281Ile)

SNV
Germline

Chr22:50626603

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_966673017

3 SubmittersRCV001785964

NM_000487.6(ARSA):c.746T>G (p.Phe249Cys)

SNV
Germline

Chr22:50626699

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_199476384

1 SubmittersRCV001806304

NM_000487.6(ARSA):c.1276G>A (p.Glu426Lys)

SNV
Germline

Chr22:50625399

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146716641

1 SubmittersRCV001824209

NM_000487.6(ARSA):c.700C>G (p.Gln234Glu)

SNV
Germline

Chr22:50626745

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2082676249

1 SubmittersRCV001991704

NM_000487.6(ARSA):c.109G>C (p.Asp37His)

SNV
Germline

Chr22:50627671

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146728318

1 SubmittersRCV002032009

NM_000487.6(ARSA):c.892G>A (p.Gly298Ser)

SNV
Germline

Chr22:50626241

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_748876604

2 SubmittersRCV001961325

NM_000487.6(ARSA):c.448C>T (p.Pro150Ser)

SNV
Germline

Chr22:50627183

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1569081077

1 SubmittersRCV001917446

NM_000487.6(ARSA):c.370G>T (p.Gly124Cys)

SNV
Germline

Chr22:50627261

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_74315461

2 SubmittersRCV002016655

NM_000487.6(ARSA):c.1282C>G (p.Pro428Ala)

SNV
Germline

Chr22:50625393

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146716603

1 SubmittersRCV001995345

NM_000487.6(ARSA):c.270C>A (p.Tyr90Ter)

SNV
Germline

Chr22:50627361

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_780399417

1 SubmittersRCV001916815

NM_000487.6(ARSA):c.724G>T (p.Glu242Ter)

SNV
Germline

Chr22:50626721

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

rs_757891932

2 SubmittersRCV001929090

NM_000487.6(ARSA):c.771T>A (p.Asp257Glu)

SNV
Germline

Chr22:50626674

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_563053401

2 SubmittersRCV002009219

NM_000487.6(ARSA):c.892G>T (p.Gly298Cys)

SNV
Germline

Chr22:50626241

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_748876604

1 SubmittersRCV002004843

NM_000487.6(ARSA):c.224+1G>T

SNV
Germline

Chr22:50627555

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1555901108

1 SubmittersRCV002011795

NM_000487.6(ARSA):c.224+2T>A

SNV
Germline

Chr22:50627554

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146727518

1 SubmittersRCV002031058

NM_000487.6(ARSA):c.581C>G (p.Pro194Arg)

SNV
Germline

Chr22:50626937

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_769492279

1 SubmittersRCV001920712

NM_000487.6(ARSA):c.460G>A (p.Asp154Asn)

SNV
Germline

Chr22:50627171

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_199476365

2 SubmittersRCV001920743

NM_000487.6(ARSA):c.1107+1G>A

SNV
Germline

Chr22:50625935

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146718906

1 SubmittersRCV001941577

NM_000487.6(ARSA):c.1197C>G (p.His399Gln)

SNV
Germline

Chr22:50625592

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_752206330

2 SubmittersRCV002025304

NM_000487.6(ARSA):c.662T>C (p.Phe221Ser)

SNV
Germline

Chr22:50626856

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146723107

1 SubmittersRCV001888514

NM_000487.6(ARSA):c.1293T>A (p.Tyr431Ter)

SNV
Germline

Chr22:50625382

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1209071029

1 SubmittersRCV001953645

NM_000487.6(ARSA):c.826A>T (p.Thr276Ser)

SNV
Germline

Chr22:50626619

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_140966324

2 SubmittersRCV002029692

NM_000487.6(ARSA):c.937C>G (p.Arg313Gly)

SNV
Germline

Chr22:50626196

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

rs_551472773

2 SubmittersRCV001980760

NM_000487.6(ARSA):c.731C>A (p.Ser244Ter)

SNV
Germline

Chr22:50626714

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_1394861740

1 SubmittersRCV001895276

NM_000487.6(ARSA):c.802G>A (p.Gly268Arg)

SNV
Germline

Chr22:50626643

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

rs_1404723529

3 SubmittersRCV001914136 RCV004044053

NM_000487.6(ARSA):c.1468T>C (p.Cys490Arg)

SNV
Germline

Chr22:50625207

Likely pathogenic

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_755974448

2 SubmittersRCV001916305 RCV003395277

NM_000487.6(ARSA):c.1108-1G>C

SNV
Germline

Chr22:50625682

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_2146718041

1 SubmittersRCV002222915

NM_000487.6(ARSA):c.248T>C (p.Leu83Pro)

SNV
Germline

Chr22:50627383

Conflicting classifications of pathogenicity

Condition: not provided
Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

rs_1190061000

3 SubmittersRCV002247162 RCV003500692 RCV004526919

NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)

SNV
Germline

Chr22:50625396

Conflicting classifications of pathogenicity

Metachromatic leukodystrophy
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003064665 RCV003235764

NM_000487.6(ARSA):c.907G>A (p.Gly303Arg)

SNV
Germline

Chr22:50626226

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003064666

NM_000487.6(ARSA):c.436T>C (p.Phe146Leu)

SNV
Germline

Chr22:50627195

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003041420

NM_000487.6(ARSA):c.412C>A (p.Pro138Thr)

SNV
Germline

Chr22:50627219

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003041421

NM_000487.6(ARSA):c.765G>C (p.Glu255Asp)

SNV
Germline

Chr22:50626680

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003052681

NM_000487.6(ARSA):c.1223G>C (p.Ser408Thr)

SNV
Germline

Chr22:50625452

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003067265

NM_000487.6(ARSA):c.427T>C (p.Phe143Leu)

SNV
Germline

Chr22:50627204

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003061639

NM_000487.6(ARSA):c.301G>T (p.Gly101Cys)

SNV
Germline

Chr22:50627330

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002620764

NM_000487.6(ARSA):c.926A>G (p.Glu309Gly)

SNV
Germline

Chr22:50626207

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002659128

NM_000487.6(ARSA):c.245G>T (p.Arg82Leu)

SNV
Germline

Chr22:50627386

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002716076

NM_000487.6(ARSA):c.970A>T (p.Ile324Phe)

SNV
Germline

Chr22:50626163

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002776250

NM_000487.6(ARSA):c.122A>G (p.Tyr41Cys)

SNV
Germline

Chr22:50627658

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV002756041

NM_000487.6(ARSA):c.1399C>T (p.Gln467Ter)

SNV
Germline

Chr22:50625276

Pathogenic/Likely pathogenic

Metachromatic leukodystrophy
ARSA-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002819939 RCV003418614

NM_000487.6(ARSA):c.251C>G (p.Pro84Arg)

SNV
Germline

Chr22:50627380

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002801671

NM_000487.6(ARSA):c.584G>A (p.Trp195Ter)

SNV
Germline

Chr22:50626934

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002848202

NM_000487.6(ARSA):c.1196A>G (p.His399Arg)

SNV
Germline

Chr22:50625593

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002876808

NM_000487.6(ARSA):c.680C>T (p.Ser227Phe)

SNV
Germline

Chr22:50626838

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002982621

NM_000487.6(ARSA):c.574C>T (p.Gln192Ter)

SNV
Germline

Chr22:50626944

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV002996828

NM_000487.6(ARSA):c.770A>T (p.Asp257Val)

SNV
Germline

Chr22:50626675

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003054290

NM_000487.6(ARSA):c.386G>A (p.Gly129Glu)

SNV
Germline

Chr22:50627245

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003047254

NM_000487.6(ARSA):c.620C>A (p.Ala207Asp)

SNV
Germline

Chr22:50626898

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

rs_759098239

2 SubmittersRCV003154875

NM_000487.6(ARSA):c.374A>C (p.Lys125Thr)

SNV
Germline

Chr22:50627257

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003318425

NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)

SNV
Germline

Chr22:50626708

Conflicting classifications of pathogenicity

not specified
Metachromatic leukodystrophy

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003331831 RCV003777393

NM_000487.6(ARSA):c.931G>T (p.Gly311Cys)

SNV
Germline

Chr22:50626202

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003501561

NM_000487.6(ARSA):c.869G>C (p.Arg290Pro)

SNV
Germline

Chr22:50626264

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003501659

NM_000487.6(ARSA):c.1223G>A (p.Ser408Asn)

SNV
Germline

Chr22:50625452

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003501565

NM_000487.6(ARSA):c.1107+1G>C

SNV
Germline

Chr22:50625935

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003501862

NM_000487.6(ARSA):c.629T>C (p.Leu210Pro)

SNV
Germline

Chr22:50626889

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003501755

NM_000487.6(ARSA):c.136T>C (p.Ser46Pro)

SNV
Germline

Chr22:50627644

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003501756

NM_000487.6(ARSA):c.764A>C (p.Glu255Ala)

SNV
Germline

Chr22:50626681

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003502002

NM_000487.6(ARSA):c.992A>G (p.Glu331Gly)

SNV
Germline

Chr22:50626051

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003500315

NM_000487.6(ARSA):c.868C>G (p.Arg290Gly)

SNV
Germline

Chr22:50626265

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003500470

NM_000487.6(ARSA):c.928G>A (p.Gly310Ser)

SNV
Germline

Chr22:50626205

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003500207

NM_000487.6(ARSA):c.1199T>C (p.Phe400Ser)

SNV
Germline

Chr22:50625590

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003500383

NM_000487.6(ARSA):c.676G>T (p.Ala226Ser)

SNV
Germline

Chr22:50626842

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003607621

NM_000487.6(ARSA):c.1136C>A (p.Pro379Gln)

SNV
Germline

Chr22:50625653

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003607606

NM_000487.6(ARSA):c.475C>T (p.Gln159Ter)

SNV
Germline

Chr22:50627043

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003607710

NM_000487.6(ARSA):c.580C>T (p.Pro194Ser)

SNV
Germline

Chr22:50626938

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003607708

NM_000487.6(ARSA):c.916A>G (p.Thr306Ala)

SNV
Germline

Chr22:50626217

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003607724

NM_000487.6(ARSA):c.928G>T (p.Gly310Cys)

SNV
Germline

Chr22:50626205

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003607745

NM_000487.6(ARSA):c.899T>G (p.Leu300Trp)

SNV
Germline

Chr22:50626234

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608019

NM_000487.6(ARSA):c.771T>G (p.Asp257Glu)

SNV
Germline

Chr22:50626674

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608014

NM_000487.6(ARSA):c.195C>G (p.Tyr65Ter)

SNV
Germline

Chr22:50627585

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003607932

NM_000487.6(ARSA):c.225-1G>C

SNV
Germline

Chr22:50627407

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608299

NM_000487.6(ARSA):c.135C>G (p.Ser45Arg)

SNV
Germline

Chr22:50627645

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608239

NM_000487.6(ARSA):c.908G>T (p.Gly303Val)

SNV
Germline

Chr22:50626225

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608337

NM_000487.6(ARSA):c.1282C>T (p.Pro428Ser)

SNV
Germline

Chr22:50625393

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608351

NM_000487.6(ARSA):c.412C>G (p.Pro138Ala)

SNV
Germline

Chr22:50627219

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608448

NM_000487.6(ARSA):c.1288C>T (p.Leu430Phe)

SNV
Germline

Chr22:50625387

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003608382

NM_000487.6(ARSA):c.1174C>G (p.Arg392Gly)

SNV
Germline

Chr22:50625615

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003608418

NM_000487.6(ARSA):c.958T>G (p.Trp320Gly)

SNV
Germline

Chr22:50626175

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003608378

NM_000487.6(ARSA):c.256C>G (p.Arg86Gly)

SNV
Germline

Chr22:50627375

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608531

NM_000487.6(ARSA):c.93C>G (p.Asp31Glu)

SNV
Germline

Chr22:50627687

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

1 SubmittersRCV003608621

NM_000487.6(ARSA):c.514G>T (p.Gly172Cys)

SNV
Germline

Chr22:50627004

Pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003607134

NM_000083.3(CLCN1):c.991G>T (p.Ala331Ser)

SNV
Germline

Chr7:143331243

Likely pathogenic

Congenital myotonia, autosomal dominant form
Congenital myotonia, autosomal recessive form
Congenital myotonia, autosomal recessive form
Metachromatic leukodystrophy

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003782655 RCV004527008 RCV004542250

NM_000487.6(ARSA):c.863C>A (p.Thr288Asn)

SNV
Germline

Chr22:50626270

Likely pathogenic

Metachromatic leukodystrophy

Criteria Provided
Single Submitter

2 SubmittersRCV003817569

NM_000487.6(ARSA):c.133A>G (p.Ser45Gly)

SNV
Germline

Chr22:50627647