ARSB variant Location

Clinical significance

c.*905G>A (p.Gly302Glu)

Likely pathogenic

c.*3181T>A

Uncertain significance

c.*3181T>G

Benign

c.*3174T>G

Uncertain significance

c.1577del (p.Thr526fs)

Pathogenic

c.1601A>C (p.Ter534Ser)

Likely pathogenic

c.1558del (p.Arg520fs)

Pathogenic

c.1493T>C (p.Leu498Pro)

Likely pathogenic

c.1325C>T (p.Thr442Met)

Conflicting interpretations of pathogenicity

c.1261G>T (p.Glu421Ter)

Pathogenic

c.899-1337_1142+1055del

Pathogenic

c.284G>A (p.Arg95Gln)

Pathogenic/Likely pathogenic

c.238del (p.Val80fs)

Pathogenic ( severe type of MPS VI)

c.215T>A (p.Leu72Gln)

Conflicting interpretations of pathogenicity

( severe type of MPS VI)

c.200T>A (p.Ile67Asn)

Likely pathogenic