"Ambry Genetics"[submitter] AND "LOC126863160"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2535082	NM_000262.3(NAGA):c.583G>A (p.Gly195Ser)	LOC126863160, NAGA (G195S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273293	NM_000262.3(NAGA):c.575A>G (p.Tyr192Cys)	LOC126863160, NAGA (Y192C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3298378	NM_000262.3(NAGA):c.505T>C (p.Tyr169His)	LOC126863160, NAGA (Y169H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173512	NM_000262.3(NAGA):c.494G>A (p.Arg165Gln)	LOC126863160, NAGA (R165Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243942	NM_000262.3(NAGA):c.439G>A (p.Glu147Lys)	LOC126863160, NAGA (E147K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 658016	NM_000262.3(NAGA):c.406G>C (p.Asp136His)	LOC126863160, NAGA (D136H)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 2260330	NM_000262.3(NAGA):c.352A>G (p.Ile118Val)	NAGA, LOC126863160 (I118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173500	NM_000262.3(NAGA):c.223C>T (p.Leu75Phe)	LOC126863160, NAGA (L75F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 341913	NM_000262.3(NAGA):c.110G>A (p.Arg37His)	LOC126863160, NAGA (R37H)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +3 more	GUncertain significance
Select item 3173522	NM_000262.3(NAGA):c.64C>T (p.Leu22Phe)	LOC126863160, NAGA (L22F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance