"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "SLC26A1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 92638	NM_000203.5(IDUA):c.24C>A (p.Ala8=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1 +2 more	GBenign
Select item 92647	NM_000203.5(IDUA):c.60G>A (p.Ala20=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1 +2 more	GBenign
Select item 712785	NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)	IDUA, SLC26A1 (A26T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 92651	NM_000203.5(IDUA):c.99T>G (p.His33Gln)	IDUA, SLC26A1 (H33Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +5 more	GBenign
Select item 195038	NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)	IDUA, SLC26A1 (A79T)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +4 more	GBenign/Likely benign; other
Select item 280992	NM_000203.5(IDUA):c.296C>T (p.Thr99Ile)	SLC26A1, IDUA (T99I)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +2 more	GBenign
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 64588	NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)	IDUA, SLC26A1 (D636Y)	Single nucleotide variant (missense variant +1 more)	SLC26A1-related condition +2 more	GConflicting classifications of pathogenicity