"GeneDx"[submitter] AND "LOC126863160"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1226119	NM_000262.3(NAGA):c.598-277G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300477	NM_000262.3(NAGA):c.502+46G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 682645	NM_000262.3(NAGA):c.325-72G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278476	NM_000262.3(NAGA):c.325-193A>C	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707398	NM_000262.3(NAGA):c.324+118A>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682644	NM_000262.3(NAGA):c.324+80A>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GBenign
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
Select item 429497	NM_000262.3(NAGA):c.103C>T (p.Arg35Cys)	LOC126863160, NAGA (R35C)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GUncertain significance
Select item 1218426	NM_000262.3(NAGA):c.17-67G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	not provided	GLikely benign