"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "LOC126863160"[ - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693777	NM_000262.3(NAGA):c.592C>T (p.Pro198Ser)	LOC126863160, NAGA (P198S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899382	NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)	LOC126863160, NAGA (R165W)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 782072	NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)	NAGA, LOC126863160 (T161I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 18165	NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)	LOC126863160, NAGA (S160C)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency +4 more	GConflicting classifications of pathogenicity
Select item 1163178	NM_000262.3(NAGA):c.419A>G (p.Gln140Arg)	LOC126863160, NAGA (Q140R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1163179	NM_000262.3(NAGA):c.418C>T (p.Gln140Ter)	LOC126863160, NAGA (Q140*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 218437	NM_000262.3(NAGA):c.358G>A (p.Ala120Thr)	LOC126863160, NAGA (A120T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2683577	NM_000262.3(NAGA):c.308C>G (p.Pro103Arg)	LOC126863160, NAGA (P103R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 341912	NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)	LOC126863160, NAGA (D94N)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more	GConflicting classifications of pathogenicity
Select item 196242	NM_000262.3(NAGA):c.279G>A (p.Pro93=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +3 more	GBenign