"Institute of Human Genetics, University Hospital Muenster"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708305	NM_000199.5(SGSH):c.215C>G (p.Pro72Arg)	SGSH (P72R)	Single nucleotide variant (missense variant +1 more)	See cases	GLikely pathogenic
Select item 1708447	NM_000199.5(SGSH):c.188C>A (p.Ala63Asp)	SGSH (A63D)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GLikely pathogenic