Related gene-specific medical variations for Gene (Select 4668) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247602	NC_000022.10:g.(?_42461722)_(42464598_?)dup	NAGA	Duplication	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely pathogenic
Select item 3247591	NC_000022.10:g.(?_42456908)_(42459048_?)del	NAGA	Deletion	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 3247580	NC_000022.10:g.(?_42456283)_(42466301_?)del	NAGA	Deletion	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
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
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 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 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 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 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 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 2993119	NM_000262.3(NAGA):c.502+8dup	LOC126863160, NAGA	Duplication (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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2826258	NM_000262.3(NAGA):c.333C>T (p.Ser111=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2825608	NM_000262.3(NAGA):c.153-20A>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2823131	NM_000262.3(NAGA):c.150A>C (p.Ile50=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2819635	NM_000262.3(NAGA):c.502+18C>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2813283	NM_000262.3(NAGA):c.17-16C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2808018	NM_000262.3(NAGA):c.129T>C (p.Asp43=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2805316	NM_000262.3(NAGA):c.33T>C (p.His11=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2800480	NM_000262.3(NAGA):c.502+7T>C	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2797609	NM_000262.3(NAGA):c.312C>T (p.Phe104=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2795395	NM_000262.3(NAGA):c.183G>T (p.Arg61=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2794128	NM_000262.3(NAGA):c.171G>A (p.Glu57=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2792218	NM_000262.3(NAGA):c.468T>C (p.Asp156=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2792053	NM_000262.3(NAGA):c.597+17C>G	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2791396	NM_000262.3(NAGA):c.591C>T (p.Pro197=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2789427	NM_000262.3(NAGA):c.111C>T (p.Arg37=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2787215	NM_000262.3(NAGA):c.507C>T (p.Tyr169=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2787063	NM_000262.3(NAGA):c.246C>A (p.Ile82=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2781137	NM_000262.3(NAGA):c.152+17C>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2781088	NM_000262.3(NAGA):c.66C>T (p.Leu22=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2767288	NM_000262.3(NAGA):c.597+7C>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2762308	NM_000262.3(NAGA):c.324+8G>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2759397	NM_000262.3(NAGA):c.189A>C (p.Ala63=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2747188	NM_000262.3(NAGA):c.234T>C (p.Asp78=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2744919	NM_000262.3(NAGA):c.153-15T>C	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2738963	NM_000262.3(NAGA):c.503-8T>C	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2737943	NM_000262.3(NAGA):c.502+17G>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2732998	NM_000262.3(NAGA):c.102A>G (p.Glu34=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2731436	NM_000262.3(NAGA):c.324C>A (p.Tyr108Ter)	LOC126863160, NAGA (Y108*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2730507	NM_000262.3(NAGA):c.369C>T (p.Gly123=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2728306	NM_000262.3(NAGA):c.375C>T (p.Phe125=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2724093	NM_000262.3(NAGA):c.324+13C>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2717664	NM_000262.3(NAGA):c.324+8G>A	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2716968	NM_000262.3(NAGA):c.153-16C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2716674	NM_000262.3(NAGA):c.504G>A (p.Gly168=)	LOC126863160, NAGA	Single nucleotide variant (synonymous variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2716438	NM_000262.3(NAGA):c.354del (p.Tyr119fs)	LOC126863160, NAGA (Y119fs)	Deletion (frameshift variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2715754	NM_000262.3(NAGA):c.152+16A>G	NAGA, LOC126863160	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2714494	NM_000262.3(NAGA):c.319_322dup (p.Tyr108Ter)	LOC126863160, NAGA (Y108*)	Duplication (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
Select item 2712540	NM_000262.3(NAGA):c.325-21_325-3del	LOC126863160, NAGA	Deletion (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2702530	NM_000262.3(NAGA):c.152+12C>T	LOC126863160, NAGA	Single nucleotide variant (intron variant)	Alpha-N-acetylgalactosaminidase deficiency type 1	GLikely benign
Select item 2697112	NM_000262.3(NAGA):c.70C>T (p.Gln24Ter)	LOC126863160, NAGA (Q24*)	Single nucleotide variant (nonsense)	Alpha-N-acetylgalactosaminidase deficiency type 1	GPathogenic
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 2535082	NM_000262.3(NAGA):c.583G>A (p.Gly195Ser)	LOC126863160, NAGA (G195S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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