ClinVar for MedGen (Select 869170) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 855487	NM_000203.5(IDUA):c.164dup (p.Leu56fs)	IDUA, SLC26A1 (L56fs)	Duplication (3 prime UTR variant +3 more)	not provided +2 more	GPathogenic