"Illumina Laboratory Services, Illumina"[submitter] AND "LOC126863160" - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 899381	NM_000262.3(NAGA):c.582C>T (p.Gly194=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GConflicting classifications of pathogenicity
Select item 341910	NM_000262.3(NAGA):c.549C>T (p.Ile183=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +1 more	GConflicting classifications of pathogenicity
Select item 899382	NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)	LOC126863160, NAGA (R165W)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more	GUncertain significance
Select item 899383	NM_000262.3(NAGA):c.486C>G (p.Pro162=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GConflicting classifications of pathogenicity
Select item 782072	NM_000262.3(NAGA):c.482C>T (p.Thr161Ile)	LOC126863160, NAGA (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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 341911	NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)	LOC126863160, NAGA (D136N)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +2 more	GConflicting classifications of pathogenicity
Select item 900504	NM_000262.3(NAGA):c.324C>T (p.Tyr108=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +2 more	GConflicting classifications of pathogenicity
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 1 +3 more	GConflicting classifications of pathogenicity
Select item 196242	NM_000262.3(NAGA):c.279G>A (p.Pro93=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 341913	NM_000262.3(NAGA):c.110G>A (p.Arg37His)	LOC126863160, NAGA (R37H)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 341914	NM_000262.3(NAGA):c.25C>T (p.Leu9=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1 +3 more	GBenign/Likely benign
Select item 341915	NM_000262.3(NAGA):c.19C>T (p.Leu7Phe)	LOC126863160, NAGA (L7F)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 2 +1 more	GUncertain significance