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 |