C0086795[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92651	NM_000203.5(IDUA):c.99T>G (p.His33Gln)	IDUA, SLC26A1 (H33Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-I-H/S +5 more	GBenign
Select item 1185530	NM_000203.5(IDUA):c.299+3990A>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 92641	NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)	IDUA (R105Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +5 more	GBenign
Select item 92642	NM_000203.5(IDUA):c.352C>T (p.Leu118=)	IDUA	Single nucleotide variant (synonymous variant +2 more)	Hurler syndrome +5 more	GBenign
Select item 92645	NM_000203.5(IDUA):c.543T>C (p.Asn181=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Hurler syndrome +5 more	GBenign
Select item 255528	NM_000203.5(IDUA):c.590-45G>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-I-H/S +4 more	GBenign
Select item 92646	NM_000203.5(IDUA):c.590-8C>T	IDUA	Single nucleotide variant (intron variant)	Hurler syndrome +5 more	GBenign
Select item 92649	NM_000203.5(IDUA):c.891C>T (p.Asn297=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 92650	NM_000203.5(IDUA):c.942G>C (p.Ala314=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 255529	NM_000203.5(IDUA):c.972+48A>G	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255530	NM_000203.5(IDUA):c.973-45G>C	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 92630	NM_000203.5(IDUA):c.1360G>A (p.Val454Ile)	IDUA (V454I +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-I-H/S +5 more	GBenign
Select item 255522	NM_000203.5(IDUA):c.1402+36T>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-I-H/S +4 more	GBenign
Select item 1185222	NM_000203.5(IDUA):c.1727+72T>G	IDUA	Single nucleotide variant (intron variant)	not provided +3 more	GBenign