ClinVar for MedGen (Select 373113) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065939	NM_000262.3(NAGA):c.882G>T (p.Met294Ile)	NAGA (M294I)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 3022316	NM_000262.3(NAGA):c.543C>T (p.Arg181=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3020538	NM_000262.3(NAGA):c.958-14C>T	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3019609	NM_000262.3(NAGA):c.598-17T>C	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3017099	NM_000262.3(NAGA):c.1101+11G>C	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3017070	NM_000262.3(NAGA):c.17-5C>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3017001	NM_000262.3(NAGA):c.696C>T (p.Phe232=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3015236	NM_000262.3(NAGA):c.732C>T (p.Gly244=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3010084	NM_000262.3(NAGA):c.635G>A (p.Trp212Ter)	NAGA (W212*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 3007394	NM_000262.3(NAGA):c.598-1G>A	NAGA	Single nucleotide variant (splice acceptor variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely pathogenic
Select item 3005012	NM_000262.3(NAGA):c.78A>T (p.Pro26=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3004926	NM_000262.3(NAGA):c.157C>T (p.Gln53Ter)	LOC126863160, NAGA (Q53*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 3002824	NM_000262.3(NAGA):c.502+19T>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3001704	NM_000262.3(NAGA):c.1083C>A (p.Thr361=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 3000648	NM_000262.3(NAGA):c.585C>T (p.Gly195=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2997399	NM_000262.3(NAGA):c.585C>G (p.Gly195=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2996393	NM_000262.3(NAGA):c.502+16G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2995897	NM_000262.3(NAGA):c.591C>A (p.Pro197=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2994768	NM_000262.3(NAGA):c.765C>A (p.Leu255=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2993119	NM_000262.3(NAGA):c.502+8dup	LOC126863160, NAGA	Duplication (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2991819	NM_000262.3(NAGA):c.759+14G>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2991771	NM_000262.3(NAGA):c.324del (p.Asp107_Tyr108insTer)	LOC126863160, NAGA	Deletion (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2991098	NM_000262.3(NAGA):c.261C>T (p.Ala87=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2988598	NM_000262.3(NAGA):c.325-19T>C	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2987881	NM_000262.3(NAGA):c.325-8C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2987015	NM_000262.3(NAGA):c.685C>T (p.Leu229=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2986232	NM_000262.3(NAGA):c.760-17C>G	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2984163	NM_000262.3(NAGA):c.939G>A (p.Gln313=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2981532	NM_000262.3(NAGA):c.459C>G (p.Leu153=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2980261	NM_000262.3(NAGA):c.325-10A>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2978558	NM_000262.3(NAGA):c.324+17C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2974099	NM_000262.3(NAGA):c.324+15A>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2964340	NM_000262.3(NAGA):c.325-5C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2961961	NM_000262.3(NAGA):c.325-5C>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2960465	NM_000262.3(NAGA):c.598-20G>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2960333	NM_000262.3(NAGA):c.1102-8C>T	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2959509	NM_000262.3(NAGA):c.874C>T (p.Gln292Ter)	NAGA (Q292*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2958458	NM_000262.3(NAGA):c.870C>T (p.Ser290=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2958069	NM_000262.3(NAGA):c.597+17C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2954612	NM_000262.3(NAGA):c.957+13G>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2919877	NM_000262.3(NAGA):c.213C>T (p.Gly71=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2918594	NM_000262.3(NAGA):c.153-6C>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2918039	NM_000262.3(NAGA):c.502+10G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2912682	NM_000262.3(NAGA):c.672C>T (p.Ser224=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2912172	NM_000262.3(NAGA):c.1101+10C>T	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2911909	NM_000262.3(NAGA):c.1089T>G (p.Ser363=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2911107	NM_000262.3(NAGA):c.597+19T>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2909317	NM_000262.3(NAGA):c.546C>T (p.Pro182=)	NAGA, LOC126863160	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2908890	NM_000262.3(NAGA):c.591C>G (p.Pro197=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2907633	NM_000262.3(NAGA):c.879C>T (p.Asn293=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2907459	NM_000262.3(NAGA):c.1233G>A (p.Gln411=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2905143	NM_000262.3(NAGA):c.958-7T>C	NAGA	Single nucleotide variant (intron variant)	NAGA-related condition +1 more	GLikely benign
Select item 2903154	NM_000262.3(NAGA):c.322_324+9del	LOC126863160, NAGA	Deletion (splice donor variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely pathogenic
Select item 2903089	NM_000262.3(NAGA):c.595A>C (p.Arg199=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2901462	NM_000262.3(NAGA):c.270C>T (p.Arg90=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2901220	NM_000262.3(NAGA):c.246C>T (p.Ile82=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2901029	NM_000262.3(NAGA):c.972C>T (p.Ile324=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2897737	NM_000262.3(NAGA):c.480C>T (p.Ser160=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2895738	NM_000262.3(NAGA):c.435C>T (p.Phe145=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2893495	NM_000262.3(NAGA):c.357C>T (p.Tyr119=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2892602	NM_000262.3(NAGA):c.1182G>A (p.Gly394=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2892583	NM_000262.3(NAGA):c.17-14C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2888288	NM_000262.3(NAGA):c.903C>G (p.Leu301=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2886542	NM_000262.3(NAGA):c.459C>T (p.Leu153=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2883061	NM_000262.3(NAGA):c.957+16G>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2880838	NM_000262.3(NAGA):c.16+8C>T	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2878895	NM_000262.3(NAGA):c.141G>A (p.Lys47=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2876840	NM_000262.3(NAGA):c.588C>T (p.Leu196=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2875725	NM_000262.3(NAGA):c.17-12C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2873001	NM_000262.3(NAGA):c.411G>A (p.Lys137=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2868928	NM_000262.3(NAGA):c.894G>A (p.Gln298=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2867375	NM_000262.3(NAGA):c.655C>T (p.Gln219Ter)	NAGA (Q219*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2866987	NM_000262.3(NAGA):c.958-6G>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2866968	NM_000262.3(NAGA):c.126T>C (p.Cys42=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2866036	NM_000262.3(NAGA):c.147C>T (p.Cys49=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2864880	NM_000262.3(NAGA):c.502+10G>C	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2864729	NM_000262.3(NAGA):c.1102-18T>C	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2863502	NM_000262.3(NAGA):c.402_403del (p.Leu135fs)	LOC126863160, NAGA (L135fs)	Microsatellite (frameshift variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2863225	NM_000262.3(NAGA):c.152+17C>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2856961	NM_000262.3(NAGA):c.949_957+8del	NAGA	Deletion (splice donor variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely pathogenic
Select item 2856388	NM_000262.3(NAGA):c.648T>C (p.Asp216=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2855832	NM_000262.3(NAGA):c.678C>G (p.Leu226=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2853509	NM_000262.3(NAGA):c.760-9T>C	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2850966	NM_000262.3(NAGA):c.639dup (p.Asn214Ter)	NAGA (N214*)	Duplication (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2850137	NM_000262.3(NAGA):c.958-12T>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2848506	NM_000262.3(NAGA):c.16+1G>A	NAGA	Single nucleotide variant (splice donor variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely pathogenic
Select item 2848412	NM_000262.3(NAGA):c.57C>T (p.Asp19=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2847758	NM_000262.3(NAGA):c.760-13T>C	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2845968	NM_000262.3(NAGA):c.156A>G (p.Glu52=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2843612	NM_000262.3(NAGA):c.774C>T (p.Asn258=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2839162	NM_000262.3(NAGA):c.675G>T (p.Val225=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2839129	NM_000262.3(NAGA):c.324+1G>C	LOC126863160, NAGA	Single nucleotide variant (splice donor variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely pathogenic
Select item 2838630	NM_000262.3(NAGA):c.793C>T (p.Gln265Ter)	NAGA (Q265*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2838211	NM_000262.3(NAGA):c.17-19C>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2834121	NM_000262.3(NAGA):c.16+16G>T	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2831191	NM_000262.3(NAGA):c.152+18_152+21del	LOC126863160, NAGA	Deletion (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2829989	NM_000262.3(NAGA):c.314T>A (p.Leu105Gln)	LOC126863160, NAGA (L105Q)	Single nucleotide variant (missense variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GUncertain significance
Select item 2829708	NM_000262.3(NAGA):c.1102-10C>A	NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2829701	NM_000262.3(NAGA):c.1104C>T (p.Ala368=)	NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2829443	NM_000262.3(NAGA):c.666G>A (p.Trp222Ter)	NAGA (W222*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic

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