ClinVar for MedGen (Select 815321) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3063893	NC_000003.11:g.(25781291_25792588)_(25792755_25805556)del	NGLY1	Deletion	Congenital disorder of deglycosylation	GPathogenic
Select item 3063892	NM_018297.4(NGLY1):c.1789G>A (p.Asp597Asn)	NGLY1 (D555N +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of deglycosylation	GLikely pathogenic
Select item 3019819	NM_018297.4(NGLY1):c.1612-15C>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 3019773	NM_018297.4(NGLY1):c.366A>C (p.Val122=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 3008649	NM_018297.4(NGLY1):c.729C>T (p.His243=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 3007016	NM_018297.4(NGLY1):c.798C>T (p.Pro266=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 3001650	NM_018297.4(NGLY1):c.1261-13A>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2997753	NM_018297.4(NGLY1):c.1003+13G>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2987070	NM_018297.4(NGLY1):c.658+18T>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2984667	NM_018297.4(NGLY1):c.1920T>C (p.His640=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2981469	NM_018297.4(NGLY1):c.1150-7G>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2969173	NM_018297.4(NGLY1):c.246+19T>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2967081	NM_018297.4(NGLY1):c.30A>G (p.Ser10=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2966023	NM_018297.4(NGLY1):c.1789+18G>T	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2965090	NM_018297.4(NGLY1):c.1218A>G (p.Lys406=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2964003	NM_018297.4(NGLY1):c.1003+20C>T	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2962941	NM_018297.4(NGLY1):c.493-18T>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2918824	NM_018297.4(NGLY1):c.1131A>C (p.Ile377=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2918187	NM_018297.4(NGLY1):c.492+19C>T	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2917932	NM_018297.4(NGLY1):c.1488T>C (p.Cys496=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2917362	NM_018297.4(NGLY1):c.96C>T (p.Ser32=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2914926	NM_018297.4(NGLY1):c.131+13G>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2914166	NM_018297.4(NGLY1):c.600C>T (p.Val200=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2913024	NM_018297.4(NGLY1):c.881+18T>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2910650	NM_018297.4(NGLY1):c.1611+13A>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2910272	NM_018297.4(NGLY1):c.1227A>G (p.Leu409=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2909647	NM_018297.4(NGLY1):c.720A>G (p.Glu240=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2907338	NM_018297.4(NGLY1):c.247-2A>G	NGLY1	Single nucleotide variant (splice acceptor variant)	Congenital disorder of deglycosylation	GPathogenic
Select item 2903550	NM_018297.4(NGLY1):c.1512T>A (p.Tyr504Ter)	NGLY1 (Y504* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation	GPathogenic
Select item 2899024	NM_018297.4(NGLY1):c.1303C>T (p.Gln435Ter)	NGLY1 (Q417* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation	GPathogenic
Select item 2895817	NM_018297.4(NGLY1):c.131+8G>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2895287	NM_018297.4(NGLY1):c.1260+16C>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2895077	NM_018297.4(NGLY1):c.63C>A (p.Cys21Ter)	NGLY1 (C21*)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 2893979	NM_018297.4(NGLY1):c.806A>T (p.Asp269Val)	NGLY1 (D227V +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of deglycosylation	GUncertain significance
Select item 2884336	NM_018297.4(NGLY1):c.1698C>T (p.Ser566=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2882725	NM_018297.4(NGLY1):c.35C>A (p.Ser12Ter)	NGLY1 (S12*)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 2880575	NM_018297.4(NGLY1):c.1074C>T (p.Val358=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2878880	NM_018297.4(NGLY1):c.795G>A (p.Leu265=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2875113	NM_018297.4(NGLY1):c.531dup (p.Asn178fs)	NGLY1 (N136fs +1 more)	Duplication (frameshift variant)	Congenital disorder of deglycosylation	GPathogenic
Select item 2874577	NM_018297.4(NGLY1):c.1003+7A>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2873317	NM_018297.4(NGLY1):c.658+14A>T	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2872523	NM_018297.4(NGLY1):c.196T>C (p.Leu66=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2872312	NM_018297.4(NGLY1):c.1260+16C>T	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2870330	NM_018297.4(NGLY1):c.450G>A (p.Arg150=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2868564	NM_018297.4(NGLY1):c.1003+17G>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2861573	NM_018297.4(NGLY1):c.1632_1635del (p.Glu544fs)	NGLY1 (E502fs +2 more)	Microsatellite (frameshift variant +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 2859204	NM_018297.4(NGLY1):c.42C>G (p.Ser14=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2858887	NM_018297.4(NGLY1):c.1261-15A>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2858334	NM_018297.4(NGLY1):c.1611+14T>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2858034	NM_018297.4(NGLY1):c.1749G>A (p.Trp583Ter)	NGLY1 (W565* +2 more)	Single nucleotide variant (nonsense +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 2857803	NM_018297.4(NGLY1):c.247-2A>T	NGLY1	Single nucleotide variant (splice acceptor variant)	Congenital disorder of deglycosylation	GPathogenic
Select item 2857020	NM_018297.4(NGLY1):c.882-13dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2856879	NM_018297.4(NGLY1):c.12G>C (p.Ala4=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2856433	NM_018297.4(NGLY1):c.1261-19T>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2856038	NM_018297.4(NGLY1):c.440_441del (p.Gln147fs)	NGLY1 (Q147fs +1 more)	Deletion (frameshift variant)	Congenital disorder of deglycosylation	GPathogenic
Select item 2852074	NM_018297.4(NGLY1):c.1789+16G>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2850258	NM_018297.4(NGLY1):c.1560C>A (p.Gly520=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2848979	NM_018297.4(NGLY1):c.1790-13_1790-12dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GBenign
Select item 2847183	NM_018297.4(NGLY1):c.369G>A (p.Lys123=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2845723	NM_018297.4(NGLY1):c.1941A>C (p.Ile647=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2845385	NM_018297.4(NGLY1):c.881+16G>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2844779	NM_018297.4(NGLY1):c.336A>G (p.Arg112=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2842457	NM_018297.4(NGLY1):c.1491C>T (p.Tyr497=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2842422	NM_018297.4(NGLY1):c.1512T>C (p.Tyr504=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2839758	NM_018297.4(NGLY1):c.1248G>C (p.Gly416=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2839609	NM_018297.4(NGLY1):c.493-10_493-9dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GBenign
Select item 2839183	NM_018297.4(NGLY1):c.882-19T>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2837824	NM_018297.4(NGLY1):c.1263G>A (p.Arg421=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2837804	NM_018297.4(NGLY1):c.270del (p.Ala93fs)	NGLY1 (A93fs +1 more)	Deletion (frameshift variant)	Congenital disorder of deglycosylation	GPathogenic
Select item 2837517	NM_018297.4(NGLY1):c.1026T>C (p.Tyr342=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2836813	NM_018297.4(NGLY1):c.51G>A (p.Val17=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2835609	NM_018297.4(NGLY1):c.1668G>A (p.Glu556=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2835535	NM_018297.4(NGLY1):c.675T>C (p.Asp225=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2834988	NM_018297.4(NGLY1):c.555T>A (p.Tyr185Ter)	NGLY1 (Y143* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation	GPathogenic
Select item 2834987	NM_018297.4(NGLY1):c.562_563del (p.Pro188fs)	NGLY1 (P146fs +1 more)	Deletion (frameshift variant)	Congenital disorder of deglycosylation	GPathogenic
Select item 2834274	NM_018297.4(NGLY1):c.1419T>G (p.Gly473=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2833746	NM_018297.4(NGLY1):c.6G>A (p.Ala2=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2832610	NM_018297.4(NGLY1):c.659-20dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2828196	NM_018297.4(NGLY1):c.1224A>G (p.Ala408=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2824408	NM_018297.4(NGLY1):c.1004-11T>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2823946	NM_018297.4(NGLY1):c.243A>G (p.Glu81=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2822837	NM_018297.4(NGLY1):c.1260+15T>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2822138	NM_018297.4(NGLY1):c.1266A>G (p.Gln422=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2821896	NM_018297.4(NGLY1):c.372A>G (p.Ser124=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2821767	NM_018297.4(NGLY1):c.1612-16T>A	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2818484	NM_018297.4(NGLY1):c.1194G>C (p.Val398=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2816382	NM_018297.4(NGLY1):c.1150-8T>C	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2814480	NM_018297.4(NGLY1):c.731G>A (p.Trp244Ter)	NGLY1 (W202* +1 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation	GPathogenic
Select item 2813276	NM_018297.4(NGLY1):c.6G>C (p.Ala2=)	NGLY1	Single nucleotide variant (synonymous variant +1 more)	Congenital disorder of deglycosylation	GLikely benign
Select item 2812655	NM_018297.4(NGLY1):c.882-9T>G	NGLY1	Single nucleotide variant (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2812541	NM_018297.4(NGLY1):c.1503A>G (p.Lys501=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2810733	NM_018297.4(NGLY1):c.1109dup (p.Lys371fs)	NGLY1 (K329fs +1 more)	Duplication (frameshift variant +1 more)	Congenital disorder of deglycosylation	GPathogenic
Select item 2809760	NM_018297.4(NGLY1):c.1003+2T>C	NGLY1	Single nucleotide variant (splice donor variant)	Congenital disorder of deglycosylation	GLikely pathogenic
Select item 2809358	NM_018297.4(NGLY1):c.375T>C (p.Ser125=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2809350	NM_018297.4(NGLY1):c.1790-9dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2808329	NM_018297.4(NGLY1):c.666T>C (p.Asn222=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2807861	NM_018297.4(NGLY1):c.132-6dup	NGLY1	Duplication (intron variant)	Congenital disorder of deglycosylation	GBenign
Select item 2805392	NM_018297.4(NGLY1):c.1516C>T (p.Arg506Ter)	NGLY1 (R488* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of deglycosylation	GPathogenic
Select item 2804148	NM_018297.4(NGLY1):c.1422A>G (p.Leu474=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign
Select item 2803712	NM_018297.4(NGLY1):c.387A>G (p.Ala129=)	NGLY1	Single nucleotide variant (synonymous variant)	Congenital disorder of deglycosylation	GLikely benign

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