Full data view for gene ARSB

Information The variants shown are described using the NM_000046.3 transcript reference sequence.

99 entries on 1 page. Showing entries 1 - 99.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.76C>T r.(?) p.(Leu26=) Unknown - likely benign g.78280996G>A g.78985173G>A ARSB(NM_000046.4):c.76C>T (p.L26=) - ARSB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.98C>T r.(?) p.(Ala33Val) Unknown - VUS g.78280974G>A g.78985151G>A - - ARSB_000003 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.98C>T r.(?) p.(Ala33Val) Unknown - likely benign g.78280974G>A - ARSB(NM_000046.3):c.98C>T (p.(Ala33Val)) - ARSB_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113_121del r.(?) p.(Gly38_Gly40del) Unknown - likely benign g.78280953_78280961del g.78985130_78985138del ARSB(NM_000046.3):c.113_121del (p.(Gly38_Gly40del)) - ARSB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.138C>A r.(?) p.(His46Gln) Unknown - VUS g.78280934G>T - - - ARSB_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149T>G r.(?) p.(Leu50Trp) Unknown - VUS g.78280923A>C - ARSB(NM_000046.3):c.149T>G (p.(Leu50Trp)) - ARSB_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.167G>A r.(?) p.(Gly56Asp) Both (homozygous) - pathogenic (recessive) g.78280905C>T g.78985082C>T - - ARSB_000058 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat6 PubMed: Cobos 2015 - M - Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.197G>A r.(?) p.(Arg66His) Unknown - likely benign g.78280875C>T - ARSB(NM_000046.3):c.197G>A (p.(Arg66His)) - ARSB_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.200T>A r.(?) p.(Ile67Asn) Unknown - VUS g.78280872A>T g.78985049A>T ARSB(NM_000046.3):c.200T>A (p.(Ile67Asn)) - ARSB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.260C>G r.(?) p.(Thr87Arg) Both (homozygous) - likely pathogenic (recessive) g.78280812G>C g.78984989G>C - - ARSB_000052 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS ARSB-1 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.275C>A r.(?) p.(Thr92Lys) Parent #1 - pathogenic (recessive) g.78280797G>T g.78984974G>T - - ARSB_000057 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat2 PubMed: Cobos 2015 - F - Russia - - - - - 1 Johan den Dunnen
+/. - c.275C>T r.(?) p.(Thr92Met) Parent #2 - pathogenic (recessive) g.78280797G>A g.78984974G>A - - ARSB_000051 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS ARSB-2 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.284G>A r.(?) p.(Arg95Gln) Parent #1 - likely pathogenic g.78280788C>T g.78984965C>T - - ARSB_000031 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118203942 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.293T>C r.(?) p.(Leu98Pro) Parent #2 - pathogenic (recessive) g.78280779A>G g.78984956A>G - - ARSB_000056 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat2 PubMed: Cobos 2015 - F - Russia - - - - - 1 Johan den Dunnen
+?/. 1 c.311A>C r.(?) p.(Gln104Pro) Unknown - likely pathogenic g.78280761T>G g.78984938T>G - - ARSB_000004 - - - - Germline/De novo (untested) - - - - - DNA SEQ blood - MPS6 - - - F - - - - - - - 1 Dr. Alexandra Wey-Fabrizius
+?/. - c.312G>C r.(?) p.(Gln104His) Parent #1 - likely pathogenic (recessive) g.78280760C>G g.78984937C>G - - ARSB_000050 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS ARSB-2 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. 1i c.312+2T>G r.spl p.? Parent #1 - pathogenic (recessive) g.78280758A>C g.78984935A>C - - ARSB_000068 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat48 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
-?/. - c.312+10G>T r.(=) p.(=) Unknown - likely benign g.78280750C>A - ARSB(NM_000046.5):c.312+10G>T - ARSB_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.313-26T>C r.(=) p.(=) Unknown - benign g.78265041A>G g.78969218A>G ARSB(NM_000046.4):c.313-26T>C - ARSB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_3i c.(312+1_313-1)_(690+1_691-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(78251326_78260238)_(78265016_78280759)del g.(78955503_78964415)_(78969193_78984936)del del ex2-3 - ARSB_000064 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat45 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
+?/. - c.316C>T r.(?) p.(Arg106Cys) Unknown - likely pathogenic g.78265012G>A - - - ARSB_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.317G>A r.(?) p.(Arg106His) Unknown - VUS g.78265011C>T g.78969188C>T - - ARSB_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.342del r.(?) p.(Trp115Glyfs*19) Unknown - likely pathogenic g.78264986del - ARSB(NM_000046.5):c.342del (p.(Trp115Glyfs*19)) - ARSB_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.349T>C r.(?) p.(Cys117Arg) Unknown - pathogenic g.78264979A>G g.78969156A>G - - ARSB_000005 HGMD accession CM920107 - - - Germline/De novo (untested) - - - - - DNA SEQ blood - MPS6 - - - F - - - - - - - 1 Dr. Alexandra Wey-Fabrizius
+/. - c.382_384del r.(?) p.(Leu129del) Both (homozygous) - pathogenic (recessive) g.78264944_78264946del g.78969121_78969123del 382_384delCTC - ARSB_000055 - PubMed: Fernandez-Marmiesse 2014 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ? Pat16 PubMed: Fernandez-Marmiesse 2014 - M - Spain - - - - - 1 Johan den Dunnen
+/. - c.422A>C r.(?) p.(His141Pro) Unknown - pathogenic g.78264906T>G - - - ARSB_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.454C>T r.(?) p.(Arg152Trp) Unknown - pathogenic g.78264874G>A g.78969051G>A ARSB(NM_000046.4):c.454C>T (p.R152W) - ARSB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.475C>T r.(?) p.(Arg159Cys) Unknown - VUS g.78264853G>A - ARSB(NM_000046.5):c.475C>T (p.(Arg159Cys)) - ARSB_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.478C>T r.(?) p.(Arg160Ter) Parent #1 - pathogenic (recessive) g.78264850G>A g.78969027G>A - - ARSB_000067 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat44 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. 2 c.479G>A r.(?) p.(Arg160Gln) Parent #1 - pathogenic (recessive) g.78264849C>T g.78969026C>T - - ARSB_000066 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat45 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. 3 c.532C>T r.(?) p.(His178Tyr) Parent #1 - pathogenic (recessive) g.78260397G>A g.78964574G>A - - ARSB_000065 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat46 PubMed: Fang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.629A>G r.(?) p.(Tyr210Cys) Unknown - pathogenic g.78260300T>C g.78964477T>C ARSB(NM_000046.4):c.629A>G (p.Y210C), ARSB(NM_000046.5):c.629A>G (p.(Tyr210Cys), p.Y210C) - ARSB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.629A>G r.(?) p.(Tyr210Cys) Unknown - pathogenic g.78260300T>C g.78964477T>C ARSB(NM_000046.4):c.629A>G (p.Y210C), ARSB(NM_000046.5):c.629A>G (p.(Tyr210Cys), p.Y210C) - ARSB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.629A>G r.(?) p.(Tyr210Cys) Unknown - pathogenic g.78260300T>C - ARSB(NM_000046.4):c.629A>G (p.Y210C), ARSB(NM_000046.5):c.629A>G (p.(Tyr210Cys), p.Y210C) - ARSB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.629A>G r.(?) p.(Tyr210Cys) Unknown - pathogenic g.78260300T>C - ARSB(NM_000046.4):c.629A>G (p.Y210C), ARSB(NM_000046.5):c.629A>G (p.(Tyr210Cys), p.Y210C) - ARSB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.658A>G r.(?) p.(Ile220Val) Unknown - likely benign g.78260271T>C - ARSB(NM_000046.3):c.658A>G (p.(Ile220Val)) - ARSB_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.659del r.(?) p.(Ile220LysfsTer4) Unknown - pathogenic g.78260270del g.78964447del ARSB(NM_000046.4):c.659delT (p.I220Kfs*4) - ARSB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.691-22T>C r.(=) p.(=) Unknown - benign g.78251347A>G g.78955524A>G ARSB(NM_000046.4):c.691-22T>C - ARSB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.691-1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.78251326C>T g.78955503C>T - - ARSB_000054 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat3 PubMed: Cobos 2015 - F - Russia - - - - - 1 Johan den Dunnen
+/. 3i_4i c.(690+1_691-1)_(898+1_899-1)del r.? p.? Parent #2 - pathogenic (recessive) g.(78181651_78251117)_(78251326_78260238)del g.(78885828_78955294)_(78955503_78964415)del del ex4 - ARSB_000063 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat48 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.710C>A r.(?) p.(Ala237Asp) Unknown - pathogenic g.78251306G>T g.78955483G>T ARSB(NM_000046.4):c.710C>A (p.A237D) - ARSB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.750A>G r.(?) p.(Glu250=) Unknown - likely benign g.78251266T>C g.78955443T>C ARSB(NM_000046.4):c.750A>G (p.E250=) - ARSB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.753C>G r.(?) p.(Tyr251*) Both (homozygous) - pathogenic (recessive) g.78251263G>C g.78955440G>C NM_000046.3:c.753C>G:p.(Tyr251*) - ARSB_000033 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG1831 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
+/. - c.753C>G r.(?) p.(Tyr251Ter) Both (homozygous) - pathogenic (recessive) g.78251263G>C g.78955440G>C - - ARSB_000033 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat1 PubMed: Cobos 2015 - M - Kuwait - - - - - 1 Johan den Dunnen
+/. - c.753C>G r.(?) p.(Tyr251Ter) Both (homozygous) - pathogenic (recessive) g.78251263G>C g.78955440G>C - - ARSB_000033 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat4 PubMed: Cobos 2015 - M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.753C>G r.(?) p.(Tyr251Ter) Both (homozygous) - pathogenic (recessive) g.78251263G>C g.78955440G>C - - ARSB_000033 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat5 PubMed: Cobos 2015 - M - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.753C>G r.(?) p.(Tyr251Ter) Parent #1 - pathogenic (recessive) g.78251263G>C g.78955440G>C - - ARSB_000033 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat7 PubMed: Cobos 2015 - M - Syria - - - - - 1 Johan den Dunnen
+/. 5 c.904G>C p.(Glu302Arg) p.(Gly302Arg) Parent #1 - pathogenic (recessive) g.78181645C>G g.78885822C>G 904C>G (Glu302Arg) - ARSB_000062 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat47 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
?/. - c.914C>T r.(?) p.(Thr305Ile) Unknown - VUS g.78181635G>A - ARSB(NM_000046.3):c.914C>T (p.(Thr305Ile)) - ARSB_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.923G>A r.(?) p.(Gly308Glu) Unknown - VUS g.78181626C>T g.78885803C>T - - ARSB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.923G>A r.(?) p.(Gly308Glu) Parent #2 - pathogenic (recessive) g.78181626C>T g.78885803C>T - - ARSB_000024 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat7 PubMed: Cobos 2015 - M - Syria - - - - - 1 Johan den Dunnen
+/. - c.937C>G r.(?) p.(Pro313Ala) Unknown - pathogenic g.78181612G>C g.78885789G>C ARSB(NM_000046.4):c.937C>G (p.P313A), ARSB(NM_000046.5):c.937C>G (p.(Pro313Ala)) - ARSB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.937C>G r.(?) p.(Pro313Ala) Unknown - pathogenic g.78181612G>C - ARSB(NM_000046.4):c.937C>G (p.P313A), ARSB(NM_000046.5):c.937C>G (p.(Pro313Ala)) - ARSB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.937C>T r.(?) p.(Pro313Ser) Unknown - pathogenic g.78181612G>A g.78885789G>A ARSB(NM_000046.4):c.937C>T (p.P313S) - ARSB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.960C>G r.(?) p.(Ser320Arg) Parent #2 - pathogenic (recessive) g.78181589G>C g.78885766G>C - - ARSB_000061 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat47 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
+/. - c.962T>C r.(?) p.(Leu321Pro) Unknown - pathogenic g.78181587A>G g.78885764A>G ARSB(NM_000046.4):c.962T>C (p.L321P) - ARSB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.962T>C r.(?) p.(Leu321Pro) Unknown - pathogenic g.78181587A>G - ARSB(NM_000046.4):c.962T>C (p.L321P) - ARSB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.962T>C r.(?) p.(Leu321Pro) Both (homozygous) - pathogenic (recessive) g.78181587A>G g.78885764A>G - - ARSB_000013 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat8 PubMed: Cobos 2015 - F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.979C>T r.(?) p.(Arg327Ter) Unknown - pathogenic g.78181570G>A g.78885747G>A ARSB(NM_000046.4):c.979C>T (p.R327*) - ARSB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.979C>T r.(?) p.(Arg327Ter) Parent #2 - pathogenic (recessive) g.78181570G>A g.78885747G>A - - ARSB_000012 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat46 PubMed: Fang 2022 - M - China - - - - - 1 Johan den Dunnen
?/. - c.989G>T r.(?) p.(Gly330Val) Unknown - VUS g.78181560C>A - ARSB(NM_000046.3):c.989G>T (p.(Gly330Val)) - ARSB_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1052C>T r.(?) p.(Ser351Phe) Both (homozygous) - likely pathogenic (recessive) g.78181497G>A g.78885674G>A - - ARSB_000049 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS ARSB-3 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
-/. - c.1072G>A r.(?) p.(Val358Met) Unknown - benign g.78181477C>T g.78885654C>T ARSB(NM_000046.4):c.1072G>A (p.V358M), ARSB(NM_000046.5):c.1072G>A (p.V358M) - ARSB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1072G>A r.(?) p.(Val358Met) Unknown - benign g.78181477C>T g.78885654C>T ARSB(NM_000046.4):c.1072G>A (p.V358M), ARSB(NM_000046.5):c.1072G>A (p.V358M) - ARSB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5i c.1072G>T r.(?) p.(Val358Leu) Parent #2 - VUS g.78181477C>A g.78885654C>A - - ARSB_000060 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat46 PubMed: Fang 2022 - M - China - - - - - 1 Johan den Dunnen
+/. - c.1079T>C r.(?) p.(Leu360Pro) Both (homozygous) - pathogenic (recessive) g.78181470A>G g.78885647A>G NM_000046.3:c.1079T>C:p.(Leu360Pro) - ARSB_000032 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 17DG0784 PubMed: Maddirevula 2018 isolated case M yes - Arab - - - - 1 LOVD
?/. - c.1081G>T r.(?) p.(Ala361Ser) Unknown - VUS g.78181468C>A - ARSB(NM_000046.5):c.1081G>T (p.(Ala361Ser)) - ARSB_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1126G>A r.(?) p.(Val376Met) Unknown - benign g.78181423C>T g.78885600C>T ARSB(NM_000046.4):c.1126G>A (p.V376M), ARSB(NM_000046.5):c.1126G>A (p.V376M) - ARSB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1126G>A r.(?) p.(Val376Met) Unknown - benign g.78181423C>T g.78885600C>T ARSB(NM_000046.4):c.1126G>A (p.V376M), ARSB(NM_000046.5):c.1126G>A (p.V376M) - ARSB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1127T>A r.(?) p.(Val376Glu) Both (homozygous) - pathogenic (recessive) g.78181422A>T g.78885599A>T - - ARSB_000053 - PubMed: Cobos 2015 - - Germline - - - - - DNA SEQ - - ? MPS6_Pat9 PubMed: Cobos 2015 - F - Turkey - - - - - 1 Johan den Dunnen
?/. - c.1139_1141del r.(?) p.(Ile380del) Unknown - VUS g.78181410_78181412del - - - ARSB_000041 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1142+2T>C r.spl? p.? Unknown - pathogenic g.78181405A>G g.78885582A>G ARSB(NM_000046.4):c.1142+2T>C - ARSB_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1143-27A>C r.(=) p.(=) Unknown - benign g.78135276T>G g.78839453T>G ARSB(NM_000046.4):c.1143-27A>C - ARSB_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1143-8T>G r.(=) p.(=) Unknown - pathogenic g.78135257A>C g.78839434A>C ARSB(NM_000046.5):c.1143-8T>G - ARSB_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1143-5T>C r.spl? p.? Unknown - likely benign g.78135254A>G - ARSB(NM_000046.3):c.1143-5T>C (p.?) - ARSB_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1143-1G>C r.spl? p.? Unknown - pathogenic g.78135250C>G g.78839427C>G ARSB(NM_000046.5):c.1143-1G>C - ARSB_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - VUS g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - DNA SEQ-NG - - GA1 - PubMed: Bell 2011 Coriell sample - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - VUS g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - DNA SEQ-NG - - autism, BMD/DMD - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - VUS g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - VUS g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - VUS g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - VUS g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - VUS g.78135241C>T g.78839418C>T - - ARSB_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - benign g.78135241C>T g.78839418C>T ARSB(NM_000046.4):c.1151G>A (p.S384N), ARSB(NM_000046.5):c.1151G>A (p.S384N) - ARSB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - benign g.78135241C>T g.78839418C>T ARSB(NM_000046.4):c.1151G>A (p.S384N), ARSB(NM_000046.5):c.1151G>A (p.S384N) - ARSB_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - benign g.78135241C>T g.78839418C>T ARSB 5:78170997 (hg18) het CM003999 9.6% - ARSB_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA01210 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
-/. - c.1151G>A r.(?) p.(Ser384Asn) Unknown - benign g.78135241C>T g.78839418C>T ARSB 5:78170997 (hg18) het CM003999 9.6% - ARSB_000001 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA03575 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
?/. - c.1167_1172dup r.(?) p.(Glu390_Leu391dup) Unknown - VUS g.78135221_78135226dup - ARSB(NM_000046.5):c.1167_1172dup (p.(Glu390_Leu391dup)) - ARSB_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1191G>A r.(?) p.(Pro397=) Unknown - benign g.78135201C>T g.78839378C>T ARSB(NM_000046.4):c.1191G>A (p.P397=) - ARSB_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1195T>C r.(?) p.(Phe399Leu) Parent #2 - likely pathogenic (recessive) g.78135197A>G g.78839374A>G - - ARSB_000048 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS ARSB-4 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
+/. 6 c.1197C>G r.(?) p.(Phe399Leu) Parent #2 - pathogenic (recessive) g.78135195G>C g.78839372G>C - - ARSB_000059 - PubMed: Fang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - - MPS Pat44 PubMed: Fang 2022 - F - China - - - - - 1 Johan den Dunnen
?/. - c.1213+23269A>G r.(=) p.(=) Unknown - VUS g.78111910T>C g.78816087T>C ARSB(NM_198709.2):c.1241A>G (p.(Ter414TrpextTer7)) - ARSB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1362G>A r.(?) p.(Pro454=) Unknown - benign g.78076460C>T g.78780637C>T ARSB(NM_000046.4):c.1362G>A (p.P454=) - ARSB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1449A>T r.(?) p.(Glu483Asp) Parent #1 - likely pathogenic (recessive) g.78076373T>A g.78780550T>A - - ARSB_000047 - PubMed: Pollard 2016 - - Germline - - - - - DNA SEQ - gene panel MPS ARSB-4 PubMed: Pollard 2013, PubMed: Pollard 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.1450A>G r.(?) p.(Arg484Gly) Unknown - VUS g.78076372T>C g.78780549T>C ARSB(NM_000046.3):c.1450A>G (p.(Arg484Gly)) - ARSB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1453C>G r.(?) p.(His485Asp) Unknown - VUS g.78076369G>C - ARSB(NM_000046.5):c.1453C>G (p.(His485Asp)) - ARSB_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1517A>G r.(?) p.(His506Arg) Unknown - VUS g.78076305T>C - ARSB(NM_000046.5):c.1517A>G (p.(His506Arg)) - ARSB_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1534G>A r.(?) p.(Val512Met) Unknown - VUS g.78076288C>T - ARSB(NM_000046.5):c.1534G>A (p.(Val512Met)) - ARSB_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*60G>A r.(=) p.(=) Unknown - likely benign g.78076160C>T - ARSB(NM_000046.3):c.*60G>A (p.(=)) - ARSB_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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