All variants in the STS gene

Information The variants shown are described using the NM_001320752.2 transcript reference sequence.

126 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Yen 1987 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Bonifas 1987 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Conary 1987 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Gillard 1987 - - Germline - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Ballabio 1989 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Shapiro 1989 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Sugawara 1993 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Morita 1997 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 Female homozygous gene deletion included in family D2 PubMed: Murtaza 2014 - - Germline yes - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del - - STS_000046 - PubMed: Diociaiuti 2016 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del 1.6 Mb interstitial deletion - STS_000046 Female patient homozygous for STS deletion PubMed: Nagtzaam 2012 - - Germline yes - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Saeki 1998 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Canueta 2010 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete STS and HDHD1A gene deletion - STS_000046 - PubMed: Idkowiak 2016 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 - PubMed: Diociaiuti 2018 - - Unknown - - - - - Michel van Geel
+/+ _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic (recessive) g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del complete gene deletion - STS_000046 represents 57 individual patients Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
?/. _1_11_ c.-505_*4380{0} r.0 p.0 ACMG VUS g.5748782_10477366del g.5830745_10559329del chrX, g.5748782_10477366del, arr[GRCh37] Xp22.32p22.2(5748782-10477366)x1, heterozygous | heterozygous - NLGN4X_000080 no gene indicated in publication! PubMed: Perea-Romero 2021 - - Germline yes - - - - LOVD
+/+ - c.1118-7542_*4380{0} r.0? p.0? - pathogenic g.7235838_7425134del g.7317797_7507093del partial deletion intron 7 and 3' end gene - STS_000051 - PubMed: Bernatowicz 1992 - - Germline/De novo (untested) - - - - - Michel van Geel
+/+? _1_7i c.?_?ins[-505_(1117+426_?){2}] r.? p.? - likely pathogenic g.?_?ins(?_7103282)_(7223650_?) g.?_?ins(?_7185241)_(7305609_?) hg18 (7113282-7233650)x2 - STS_000074 0.12Mb duplication ex1-6 (NM_000351.4) PubMed: Bruno 2011 - - Unknown - - - - - Michel van Geel
+/+ _0c_10_ c.(-252+1_-251-1)_(*4382_?)del r.0? p.0? - pathogenic (recessive) g.(7066125_7077940)_(7272684_?)del - - - STS_000113 complete gene deletion without HDHD1 (breakpoint between exon 0b and 0c) Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
+/+ _1_5i c.(?_-245)_(842+1_843-1)del r.? p.? - pathogenic g.(?_7063293)_(7177814_7193991)del - exon 1-5 deletion - STS_000059 lack of STS enzymatic activity PubMed: Valdes-Flores 2001 - - Germline - - - - - Michel van Geel
-/. - c.-207A>C r.(?) p.(=) - benign g.7066051A>C - STS(NM_001320751.2):c.-325A>C - STS_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.-207A>C r.(?) p.(=) - likely benign g.7066051A>C - STS(NM_001320751.2):c.-325A>C - STS_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.-150T>A r.(?) p.(=) - VUS g.7066108T>A - STS(NM_001320751.2):c.-268T>A - STS_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.-5+34G>A r.(=) p.(=) - benign g.7109083G>A - - - STS_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. - c.-5+26859T>C r.(=) p.(=) - VUS g.7135908T>C g.7217867T>C - - STS_000031 - - - - Germline - - - - - Yu Sun
./. - c.-5+26859T>C r.(=) p.(=) - VUS g.7135908T>C g.7217867T>C - - STS_000031 - - - - Germline - - - - - Yu Sun
-?/. - c.-5+28685G>A r.(=) p.(=) - likely benign g.7137734G>A - STS(NM_000351.7):c.-5+7G>A - HDHD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ 2i_7i c.(32+1_33-4967)_979+8746_980-1)del r.? p.? - pathogenic g.(?_7166270)_(7202874_?)del g.(?_7248229)_(7284833_?)del hg18 7176270-7212874del - STS_000075 intragenic 37kb deletion ex2-6 (NM_000351.4) PubMed: Bruno 2011 - - Unknown - - - - - Michel van Geel
+/. _1_10_ c.-245_*4380{0} r.0 p.0 - pathogenic (recessive) g.(?_6887519)_(7873728_?)del g.(?_6969478)_(7955687_?)del arr[hg38] Xp22.31 (6,969,478–7,955,687)×1 - STS_000116 986 Kb deletion involving STS, PUDP1, VCX, PNPLA4 PubMed: Chouk 2022 - - Germline - - - - - Hamza Chouk
+/. _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic (recessive) g.(?_6551155)_(7982120_?)del g.(?_6633114)_(8064079_?)del arr[hg38] Xp22.31 (6,633,114–8,064,079)×1 - STS_000124 - PubMed: Chouk 2022 - - Germline yes - - - 1.4 Mb deletion involving STS, PUDP1, VCX, PNPLA4 Hamza Chouk
+/. _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic (recessive) g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del del STS gene - STS_000046 - PubMed: Chouk 2022 - - Germline yes - - - - Hamza Chouk
+/. _1_11_ c.-505_*4380{0} r.0 p.0 - pathogenic (recessive) g.(?_7137472)_(7272682_?)del g.(?_7219431)_(7354641_?)del del STS gene - STS_000046 - PubMed: Zhang 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/. - c.? r.? p.? - pathogenic (recessive) g.? - del ex7-10 - CLCN5_000000 - - - - Germline/De novo (untested) - - - - - Johan den Dunnen
+/+ 2i_6i c.[32+5522_32+5529dup;32+5537_842+5507del] r.? p.? - pathogenic g.[7143249_7143256dup;7143264_7183320del] g.[7225208_7225215dup;7225223_7281467del] intragenic exon 2-5 deletion - STS_000047 - PubMed: Shapiro 1989 - - Unknown - - - - - Michel van Geel
?/. - c.33-312C>G r.(=) p.? - VUS g.7170925C>G g.7252884C>G NM_000351.4:c.12-312C>G - STS_000001 - - - - Germline - - - - - Yu Sun
+/+ - c.127G>A r.(?) p.(Asp43Asn) - pathogenic (recessive) g.7171331G>A - NM_000351.4:c.106G>A - STS_000043 No STS enzymatic activity in leucocytes Nagtzaam et al, submitted - - Germline - - - - - Michel van Geel
-?/. - c.138G>A r.(?) p.(Arg46=) - likely benign g.7175283G>A - STS(NM_001320750.1):c.174G>A (p.R58=) - STS_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ - c.205G>A r.(?) p.(Gly69Arg) - pathogenic g.7175314G>A g.7257273G>A NM_000351.4:c.184G>A - STS_000078 lack of STS enzymatic activity PubMed: Ohyama 2019 - - Germline - - - - - Michel van Geel
+?/. - c.241C>T r.(?) p.(Arg81Trp) - likely pathogenic g.7175386C>T - - - STS_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? - c.277C>T r.(?) p.(Arg93Trp) - likely pathogenic (recessive) g.7175386C>T - NM_000351.4:c.256C>T - STS_000108 Missense variant published as pathogenic at equivalent position in paralogue sulfatase gene GALNS Nagtzaam et al, submitted - - Germline - - - - - Michel van Geel
+/+ - c.282C>G r.(?) p.(Tyr94Ter) - pathogenic g.7175391C>G g.7257350C>G NM_000351.4:c.261C>G - STS_000066 lack of STS enzymatic activity PubMed: del Refugio Rivera Vega 2015 - - Unknown - - - - - Michel van Geel
+/+ - c.289C>T r.(?) p.(Arg97Ter) - pathogenic g.7175398C>T g.7257357C>T NM_000351.4:c.268C>T - STS_000044 - PubMed: Winge 2011 - - Unknown - - - - - Michel van Geel
+?/. - c.308C>T r.(?) p.(Ser103Leu) - likely pathogenic g.7175555C>T - - - STS_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/+ - c.308G>A r.(?) p.(Trp103Ter) - pathogenic (recessive) g.7175519G>A - NM_000351.4:c.287G>A - STS_000104 - PubMed: Afzal 2020 - - Germline yes - - - - Michel van Geel
-?/. - c.324C>T r.(?) p.(Thr108=) - likely benign g.7175571C>T - STS(NM_001320750.1):c.360C>T (p.T120=) - STS_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+? - c.344C>T r.(?) p.(Ser115Leu) - likely pathogenic g.7175555C>T g.7257514C>T NM_000351.4:c.323C>T - STS_000079 - PubMed: Diociaiuti 2018 - - Germline - - - - - Michel van Geel
+?/+? - c.349G>A r.(?) p.(Gly117Arg) - likely pathogenic (recessive) g.7175560G>A - NM_000351.4:c.328G>A - STS_000109 Missense variants published as pathogenic at equivalent position in paralogue sulfatase gene GALNS Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
?/. - c.374_386del r.(?) p.(Phe125Ter) - benign (!) g.7175585_7175597del g.7257544_7257556del - - STS_000125 variant an artefact; gene deletion gives amplification Y-chromosome STS pseudogene PubMed: Chouk 2022 - - Artefact - - - - - Johan den Dunnen
?/. - c.374_386del r.(?) p.(Phe125Ter) - benign (!) g.7175585_7175597del g.7257544_7257556del - - STS_000125 variant an artefact; gene deletion gives amplification Y-chromosome PubMed: Chouk 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.374_386del r.(?) p.(Phe125Ter) - benign (!) g.7175585_7175597del g.7257544_7257556del - - STS_000125 variant an artefact; gene deletion gives amplification Y-chromosome PubMed: Chouk 2022 - - Artefact - - - - - Johan den Dunnen
+?/. - c.382+1G>T r.spl? p.? - likely pathogenic g.7175630G>T - - - HDHD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.418+240_418+241del r.(?) p.(=) - VUS g.7175869_7175870del g.7257828_7257829del NM_000351.4:c.397+240_397+241del - STS_000028 - - - - Germline - - - - - Yu Sun
?/. - c.418+240_418+241del r.(?) p.(=) - VUS g.7175869_7175870del g.7257828_7257829del NM_000351.4:c.397+240_397+241del - STS_000028 - - - - Germline - - - - - Yu Sun
?/. - c.418+253_418+254del r.(?) p.(=) - VUS g.7175882_7175883del g.7257841_7257842del NM_000351.4:c.397+253_397+254del - STS_000004 - - - - Germline - - - - - Yu Sun
?/. - c.418+253_418+254del r.(?) p.(=) - VUS g.7175882_7175883del g.7257841_7257842del NM_000351.4:c.397+253_397+254del - STS_000004 - - - - Germline - - - - - Yu Sun
?/. - c.428G>C r.(?) p.(Cys143Ser) - VUS g.7177435G>C - STS(NM_001320752.2):c.428G>C (p.(Cys143Ser)) - HDHD1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+? - c.473C>G r.(?) p.(Pro158Arg) - likely pathogenic g.7177444C>G g.7259403C>G NM_000351.4:c.452C>G - STS_000067 - PubMed: Diociaiuti 2016 - - Germline - - - - - Michel van Geel
+/+? - c.473C>G r.(?) p.(Pro158Arg) - likely pathogenic g.7177444C>G g.7259403C>G NM_000351.4:c.452C>G - STS_000067 - PubMed: Diociaiuti 2018 - - Germline - - - - - Michel van Geel
+/+ - c.515C>T r.(?) p.(Thr172Ile) - pathogenic g.7177486C>T g.7259445C>T NM_000351.4:c.494C>T - STS_000063 lack of STS enzymatic activity, includes heterozygous p.Arg501* FLG mutation PubMed: Liao 2007 - - Germline yes - - - - Michel van Geel
+/+ - c.550_553delinsAG r.(?) p.(Val184SerfsTer81) - pathogenic g.7177521_7177524delinsAG g.7259480_7259483delinsAG - - STS_000065 - PubMed: Takeichi 2015 - - Germline - - - - - Michel van Geel
+/+ - c.670_671delinsG r.(?) p.(Phe224AlafsTer6) - pathogenic (recessive) g.7177641_7177642delinsG - NM_000351.4:c.649_650delinsG - STS_000112 - Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
+/+ - c.670_671delinsG r.(?) p.(Phe224AlafsTer6) - pathogenic (recessive) g.7177641_7177642delinsG - NM_000351.4:c.649_650delinsG - STS_000112 - Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
+/+ - c.670_671delinsG r.(?) p.(Phe224AlafsTer6) - pathogenic (recessive) g.7177641_7177642delinsG - NM_000351.4:c.649_650delinsG - STS_000112 - Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
-/. - c.807-5del r.spl? p.? - benign g.7193987del - STS(NM_000351.7):c.807-5delT - STS_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.822G>A r.(?) p.(Pro274=) - likely benign g.7194007G>A - STS(NM_001320750.1):c.858G>A (p.P286=) - STS_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.842+214C>T r.(?) p.(=) - VUS g.7178027C>T g.7259986C>T NM_000351.4:c.821+214C>T - STS_000006 - - - - Germline - - - - - Yu Sun
?/. - c.842+214C>T r.(?) p.(=) - VUS g.7178027C>T g.7259986C>T NM_000351.4:c.821+214C>T - STS_000006 - - - - Germline - - - - - Yu Sun
?/. - c.842+244T>C r.(?) p.(=) - VUS g.7178057T>C g.7260016T>C NM_000351.4:c.821+244T>C - STS_000009 - - - - Germline - - - - - Yu Sun
?/. - c.842+244T>C r.(?) p.(=) - VUS g.7178057T>C g.7260016T>C NM_000351.4:c.821+244T>C - STS_000009 - - - - Germline - - - - - Yu Sun
?/. - c.843-22del r.(?) p.(=) - VUS g.7193970del g.7275929del NM_000351.4:c.822-22del - STS_000030 - - - - Germline - - - - - Yu Sun
+/+? - c.843-1G>A r.spl p.? - likely pathogenic g.7193991G>A g.7275950G>A NM_000351.4:c.822-1G>A - STS_000073 - PubMed: Retterer 2016 - - Unknown - - - - - Michel van Geel
+/+? 5i_6i c.(842+1_843-1)_(979+1_980-1)del r.(?) p.(Asn275Alafs*8) - pathogenic (recessive) g.(7177814_7193991)_(7194129_7223086)del - exon 6 deletion - STS_000105 - Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
-?/. - c.944-10T>C r.(=) p.(=) - likely benign g.7223077T>C - STS(NM_001320750.1):c.980-10T>C, STS(NM_001320752.2):c.944-10T>C - STS_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.944-10T>C r.(=) p.(=) - likely benign g.7223077T>C - STS(NM_001320750.1):c.980-10T>C, STS(NM_001320752.2):c.944-10T>C - STS_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ - c.979+2_1118del r.spl p.? - pathogenic g.7194130_7243380del g.7276089_7325339del del ex7 - STS_000077 - PubMed: Idkowiak 2016 - - Unknown - - - - - Michel van Geel
+/+ - c.979+2_1118del r.spl p.? - pathogenic g.7194130_7243380del g.7276089_7325339del del ex7 - STS_000077 - PubMed: Diociaiuti 2018 - - Germline - - - - - Michel van Geel
+/+ 6i_10_ c.(979+1_980-1)_(*4382_?)del r.? p.? - pathogenic g.(7194129_7223086)_(7272684_?)del - partial deletion STS exon 7-10 - STS_000076 Patient also has homozygous ASPM mutation c.2936+1G>A PubMed: Abdel-Hamid 2016 - - Unknown - - - - - Michel van Geel
+/+ - c.1043C>T r.(?) p.(Ser348Leu) - pathogenic g.7223150C>T g.7305109C>T 1226 TCG>TTG - STS_000048 complete lack of STS activity PubMed: Basler 1992 - - Unknown - - - - - Michel van Geel
+/+? - c.1051G>A r.(?) p.(Gly351Arg) - likely pathogenic g.7223158G>A g.7305117G>A NM_000351.4:c.1030G>A - STS_000080 - PubMed: Diociaiuti 2018 - - Germline - - - - - Michel van Geel
+/+ - c.1051G>T r.(?) p.(Gly351Ter) - pathogenic g.7223158G>T g.7305117G>T G>T 1236 - STS_000056 - PubMed: Morita 1997 - - Unknown - - - - - Michel van Geel
+/+ - c.1067_1069del r.(?) p.(Glu356del) - pathogenic g.7223174_7223176del g.7305133_7305135del AAGdel1252 - STS_000061 lack of STS enzymatic activity PubMed: Valdes-Flores 2001 - - Germline - - - - - Michel van Geel
+/+? - c.1070T>G r.(?) p.(Val357Gly) - likely pathogenic g.7223177T>G g.7305136T>G NM_000351.4:c.1049T>G - STS_000069 - PubMed: Oyama 2016 - - Germline - - - - - Michel van Geel
+/+ - c.1096G>A r.(?) p.(Gly366Arg) - pathogenic g.7223203G>A g.7305162G>A NM_000351.4:c.1075G>A - STS_000068 - PubMed: Diociaiuti 2016 - - Germline - - - - - Michel van Geel
+/+ - c.1096G>A r.(?) p.(Gly366Arg) - pathogenic g.7223203G>A g.7305162G>A NM_000351.4:c.1075G>A - STS_000068 - PubMed: Diociaiuti 2016 - - Germline - - - - - Michel van Geel
+/+ - c.1096G>A r.(?) p.(Gly366Arg) - pathogenic g.7223203G>A g.7305162G>A NM_000351.4:c.1075G>A - STS_000068 - PubMed: Oyama 2016 - - Germline - - - - - Michel van Geel
+/+? - c.1096G>A r.(?) p.(Gly366Arg) - pathogenic g.7223203G>A g.7305162G>A NM_000351.4:c.1075G>A - STS_000068 - PubMed: Diociaiuti 2018 - - Germline - - - - - Michel van Geel
?/. - c.1118-76G>A r.(=) p.? - VUS g.7243304G>A g.7325263G>A NM_000351.4:c.1097-76G>A - STS_000023 - - - - Germline - - - - - Yu Sun
?/. - c.1118-76G>A r.(=) p.? - VUS g.7243304G>A g.7325263G>A NM_000351.4:c.1097-76G>A - STS_000023 - - - - Germline - - - - - Yu Sun
+?/+? 7i_9i c.(1117+1_1118-1)_(1420+1_1421-1)dup r.(?) p.? - likely pathogenic (recessive) g.(7223225_7243379)_(7252149_7267928)dup - - - STS_000106 exon 8-9 duplication Nagtzaam et al, submitted - - Germline - - - - - Michel van Geel
+/+? - c.1120G>A r.(?) p.(Gly374Arg) - likely pathogenic g.7243382G>A g.7325341G>A NM_000351.4:c.1099G>A - STS_000070 - PubMed: Wei 2011 - - Unknown - - - - - Michel van Geel
+?/+? - c.1121G>C r.(?) p.(Gly374Ala) - likely pathogenic (recessive) g.7243383G>C - NM_000351.4:c.1100G>C - STS_000110 Missense variant published as pathogenic at equivalent position in paralogue sulfatase genes ARSL Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
+/+ - c.1126G>C r.(?) p.(Ala376Pro) - pathogenic (recessive) g.7243388G>C - NM_000351.4:c.1105G>C - STS_000088 Detemined cholesterol sulfate in plasma was >10x elevated Nagtzaam et al, submitted - - Germline/De novo (untested) - - - - - Michel van Geel
+/+ - c.1135T>A r.(?) p.(Trp379Arg) - pathogenic g.7243397T>A g.7325356T>A 1320 TGG>AGG - STS_000049 complete lack of STS activity PubMed: Basler 1992 - - Unknown - - - - - Michel van Geel
+/+ - c.1136G>C r.(?) p.(Trp379Ser) - pathogenic g.7243398G>C g.7325357G>C 1336 G>C, 372 Trp>Pro - STS_000053 lack of STS enzymatic activity PubMed: Alperin 1997 - - Unknown - - - - - Michel van Geel
+/+ - c.1137G>A r.(?) p.(Trp379Ter) - pathogenic g.7243399G>A - NM_000351.4:c.1116G>A - STS_000101 deficient STS enzymatic activity PubMed: Diociaiuti 2019 - - Germline - - - - - Michel van Geel
-?/. - c.1143G>C r.(?) p.(Arg381Ser) - likely benign g.7243441G>C - STS(NM_001320752.2):c.1143G>C (p.(Arg381Ser)) - HDHD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/+ - c.1159G>C r.(?) p.(Gly387Arg) - pathogenic g.7243421G>C g.7325380G>C G1344C - STS_000057 lack of STS enzymatic activity PubMed: Oyama 2000 - - Germline - - - - - Michel van Geel
+/+ - c.1186C>T r.(?) p.(Gln396Ter) - pathogenic g.7243448C>T g.7325407C>T C1371T - STS_000058 lack of STS enzymatic activity PubMed: Oyama 2000 - - Germline - - - - - Michel van Geel
-?/. - c.1209C>A r.(?) p.(Ala403=) - likely benign g.7243507C>A - STS(NM_001320750.1):c.1245C>A (p.A415=) - STS_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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