C0086795[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 11909	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	IDUA, SLC26A1 (Q70*)	Single nucleotide variant (intron variant +3 more)	Mucopolysaccharidosis +7 more	GPathogenic
Select item 984180	NM_000203.5(IDUA):c.525G>A (p.Trp175Ter)	IDUA (W175* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 555230	NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter)	IDUA (W402* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 633271	NM_000203.5(IDUA):c.1349C>A (p.Pro450His)	IDUA (P450H +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GUncertain significance
Select item 1032253	NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)	IDUA (P361T +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 11910	NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)	IDUA (P533R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hurler syndrome +5 more	GPathogenic

ClinVar