List of variants reported as pathogenic for Multiple sulfatase deficiency

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 91

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HGVS	dbSNP	gnomAD frequency
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val)	rs137852849	0.00024
NM_182760.4(SUMF1):c.463T>C (p.Ser155Pro)	rs137852850	0.00009
NM_182760.4(SUMF1):c.602+1G>A	rs143616931	0.00004
NM_182760.4(SUMF1):c.1033C>T (p.Arg345Cys)	rs137852852	0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp)	rs137852846	0.00001
NM_182760.4(SUMF1):c.1046G>A (p.Arg349Gln)	rs137852847	0.00001
NM_182760.4(SUMF1):c.266del (p.His88_Ser89insTer)	rs2079966666	0.00001
NM_182760.4(SUMF1):c.358dup (p.Thr120fs)	rs867197652	0.00001
NM_182760.4(SUMF1):c.445-1G>A	rs1237016251	0.00001
NM_182760.4(SUMF1):c.445-2A>G	rs1293658639	0.00001
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)	rs137852854	0.00001
NM_182760.4(SUMF1):c.706C>T (p.Arg236Ter)	rs748169616	0.00001
NM_182760.4(SUMF1):c.903G>A (p.Trp301Ter)	rs1274564118	0.00001
NM_182760.4(SUMF1):c.979C>T (p.Arg327Ter)	rs137852845	0.00001
NC_000003.11:g.(?_4403818)_(4459826_?)del
NC_000003.11:g.(?_4403818)_(4461840_?)del
NC_000003.11:g.(?_4403818)_(4494743_?)del
NC_000003.11:g.(?_4403818)_(4508939_?)del
NC_000003.11:g.(?_4461738)_(4461840_?)del
NC_000003.11:g.(?_4490940)_(4491034_?)del
NC_000003.12:g.(?_4362124)_(4467265_?)del
NC_000003.12:g.(?_4362134)_(4376399_?)del
NC_000003.12:g.(?_4410855)_(4467255_?)del
NC_000003.12:g.(?_4449256)_(4467255_?)del
NC_000003.12:g.(?_4452866)_(4467255_?)del
NM_015411.4(SUMF2):c.536-2del	rs1584599101
NM_182760.4(SUMF1):c.-17_4del (p.Met1_Ala2del)
NM_182760.4(SUMF1):c.1006T>C (p.Cys336Arg)	rs137852848
NM_182760.4(SUMF1):c.1023T>A (p.Cys341Ter)
NM_182760.4(SUMF1):c.103C>T (p.Gln35Ter)
NM_182760.4(SUMF1):c.1042G>C (p.Ala348Pro)	rs137852853
NM_182760.4(SUMF1):c.1046G>C (p.Arg349Pro)
NM_182760.4(SUMF1):c.1076C>A (p.Ser359Ter)	rs137852844
NM_182760.4(SUMF1):c.14dup (p.Leu6fs)
NM_182760.4(SUMF1):c.150C>A (p.Cys50Ter)	rs761237429
NM_182760.4(SUMF1):c.156C>A (p.Cys52Ter)	rs2124823466
NM_182760.4(SUMF1):c.164_170del (p.Pro55fs)
NM_182760.4(SUMF1):c.166del (p.Gln56fs)
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)	rs1421066733
NM_182760.4(SUMF1):c.191del (p.Ser64fs)	rs2124823079
NM_182760.4(SUMF1):c.1A>G (p.Met1Val)	rs137852855
NM_182760.4(SUMF1):c.243del (p.Gly82fs)	rs2124822282
NM_182760.4(SUMF1):c.247G>T (p.Glu83Ter)
NM_182760.4(SUMF1):c.250_251del (p.Arg84fs)
NM_182760.4(SUMF1):c.266C>G (p.Ser89Ter)	rs1575266034
NM_182760.4(SUMF1):c.279del (p.Ile94fs)	rs2125134167
NM_182760.4(SUMF1):c.2T>G (p.Met1Arg)	rs137852851
NM_182760.4(SUMF1):c.323del (p.Ile108fs)	rs1559309659
NM_182760.4(SUMF1):c.337G>A (p.Glu113Lys)	rs1085307107
NM_182760.4(SUMF1):c.339dup (p.Ala114fs)	rs1703025184
NM_182760.4(SUMF1):c.33dup (p.Arg12fs)
NM_182760.4(SUMF1):c.39C>A (p.Cys13Ter)
NM_182760.4(SUMF1):c.412_413del (p.Lys138fs)
NM_182760.4(SUMF1):c.43G>T (p.Glu15Ter)	rs1350782911
NM_182760.4(SUMF1):c.451A>T (p.Lys151Ter)	rs2125124343
NM_182760.4(SUMF1):c.511C>T (p.Gln171Ter)	rs1702887095
NM_182760.4(SUMF1):c.519+5_519+8del	rs775324176
NM_182760.4(SUMF1):c.529G>C (p.Ala177Pro)	rs1359106679
NM_182760.4(SUMF1):c.532_542del (p.Pro178fs)
NM_182760.4(SUMF1):c.536G>A (p.Trp179Ter)
NM_182760.4(SUMF1):c.537G>A (p.Trp179Ter)	rs2125042060
NM_182760.4(SUMF1):c.539G>A (p.Trp180Ter)	rs1419925001
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter)	rs1553575867
NM_182760.4(SUMF1):c.552del (p.Gly185fs)
NM_182760.4(SUMF1):c.572del (p.Pro191fs)
NM_182760.4(SUMF1):c.602+1G>T
NM_182760.4(SUMF1):c.603-1G>C	rs2125035926
NM_182760.4(SUMF1):c.603-2A>T	rs2125035931
NM_182760.4(SUMF1):c.603-2del	rs749832328
NM_182760.4(SUMF1):c.616_623del (p.Val206fs)	rs773400437
NM_182760.4(SUMF1):c.627_657del (p.Ser210fs)
NM_182760.4(SUMF1):c.632G>A (p.Trp211Ter)	rs1701775522
NM_182760.4(SUMF1):c.635dup (p.Asn212fs)
NM_182760.4(SUMF1):c.659G>A (p.Trp220Ter)	rs1575197564
NM_182760.4(SUMF1):c.661del (p.Ala221fs)	rs770241913
NM_182760.4(SUMF1):c.668del (p.Lys223fs)	rs2125035405
NM_182760.4(SUMF1):c.675dup (p.Pro226fs)
NM_182760.4(SUMF1):c.691dup (p.Trp231fs)	rs748337915
NM_182760.4(SUMF1):c.692G>A (p.Trp231Ter)
NM_182760.4(SUMF1):c.774del (p.Asn259fs)
NM_182760.4(SUMF1):c.784C>T (p.Gln262Ter)
NM_182760.4(SUMF1):c.785A>G (p.Gln262Arg)	rs1064793391
NM_182760.4(SUMF1):c.788G>T (p.Gly263Val)	rs387906976
NM_182760.4(SUMF1):c.790G>T (p.Glu264Ter)	rs754069091
NM_182760.4(SUMF1):c.826C>T (p.Gln276Ter)	rs1478570923
NM_182760.4(SUMF1):c.832del (p.Thr278fs)
NM_182760.4(SUMF1):c.876C>G (p.Tyr292Ter)	rs369648085
NM_182760.4(SUMF1):c.896G>A (p.Trp299Ter)	rs1559281733
NM_182760.4(SUMF1):c.908C>G (p.Ser303Ter)
NM_182760.4(SUMF1):c.954+5G>T
NM_182760.4(SUMF1):c.959del (p.Gly320fs)

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