"Mendelics"[submitter] AND "IDUA"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 193062	NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	IDUA, SLC26A1 (L18P)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +2 more	GConflicting classifications of pathogenicity
Select item 195039	NM_000203.5(IDUA):c.245A>C (p.His82Pro)	IDUA, SLC26A1 (H82P)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 92637	NM_000203.5(IDUA):c.246C>G (p.His82Gln)	IDUA, SLC26A1 (H82Q)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity; other
Select item 92640	NM_022042.4(SLC26A1):c.*878G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Mucopolysaccharidosis type 1 +4 more	GBenign/Likely benign
Select item 1685125	NM_022042.4(SLC26A1):c.61C>T (p.Arg21Cys)	IDUA, SLC26A1 (R21C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1685351	NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)	IDUA (A187E +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GLikely pathogenic
Select item 92627	NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)	IDUA (G409R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 802046	NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys)	IDUA (T285K +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 1684809	NM_000203.5(IDUA):c.1660C>G (p.Leu554Val)	IDUA (L422V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance