Total 2 pathogenic variants reported for Mucopolysaccharidosis type 2

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000202.8(IDS):c.1403G>A (p.Arg468Gln)	SNV Germline	ChrX:149482996	Pathogenic	Mucopolysaccharidosis type 2, severe form Mucopolysaccharidosis, MPS-II Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA340992	rs_113993946	10 SubmittersRCV000011244 RCV000180473 RCV000790797
NM_000202.8(IDS):c.1403G>T (p.Arg468Leu)	SNV Germline	ChrX:149482996	Pathogenic	Mucopolysaccharidosis type 2, severe form	No Assertion Criteria Provided	CA121099	rs_113993946	1 SubmittersRCV000011246