ClinVar for Gene (Select 8540) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3096601	NM_003659.4(AGPS):c.755C>G (p.Thr252Arg)	AGPS (T252R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096584	NM_003659.4(AGPS):c.606T>G (p.Phe202Leu)	AGPS (F202L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096560	NM_003659.4(AGPS):c.1645A>G (p.Thr549Ala)	AGPS (T549A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3096555	NM_003659.4(AGPS):c.146C>T (p.Pro49Leu)	AGPS, LOC129935172 (P49L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3020019	NM_003659.4(AGPS):c.345G>C (p.Gly115=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019208	NM_003659.4(AGPS):c.997-11G>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016929	NM_003659.4(AGPS):c.1234-6A>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016827	NM_003659.4(AGPS):c.285A>G (p.Gly95=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015992	NM_003659.4(AGPS):c.350+9G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015359	NM_003659.4(AGPS):c.789+19T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3015160	NM_003659.4(AGPS):c.681A>G (p.Lys227=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3014164	NM_003659.4(AGPS):c.1821T>C (p.Leu607=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013385	NM_003659.4(AGPS):c.345G>A (p.Gly115=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010493	NM_003659.4(AGPS):c.309C>T (p.Phe103=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008092	NM_003659.4(AGPS):c.1697+8T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006360	NM_003659.4(AGPS):c.350+8T>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006216	NM_003659.4(AGPS):c.1363-16T>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005750	NM_003659.4(AGPS):c.1455T>C (p.Tyr485=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005173	NM_003659.4(AGPS):c.597A>G (p.Glu199=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003812	NM_003659.4(AGPS):c.33T>A (p.Thr11=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002596	NM_003659.4(AGPS):c.1434T>A (p.Leu478=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002101	NM_003659.4(AGPS):c.441+12A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2996400	NM_003659.4(AGPS):c.637+20T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993287	NM_003659.4(AGPS):c.260+8G>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992466	NM_003659.4(AGPS):c.260+15G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992456	NM_003659.4(AGPS):c.136C>T (p.Leu46=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2991590	NM_003659.4(AGPS):c.1607+9T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990112	NM_003659.4(AGPS):c.1233+13_1233+14insATA	AGPS	Insertion (intron variant)	not provided	GLikely benign
Select item 2985390	NM_003659.4(AGPS):c.1798-14G>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984884	NM_003659.4(AGPS):c.1071C>A (p.Gly357=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984790	NM_003659.4(AGPS):c.1286-14T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981617	NM_003659.4(AGPS):c.228C>G (p.Ala76=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981319	NM_003659.4(AGPS):c.1233+19A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976276	NM_003659.4(AGPS):c.260+7A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968722	NM_003659.4(AGPS):c.867A>G (p.Arg289=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965816	NM_003659.4(AGPS):c.1363-19A>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965272	NM_003659.4(AGPS):c.563-13A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964145	NM_003659.4(AGPS):c.1106-11C>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962935	NM_003659.4(AGPS):c.871-20G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961691	NM_003659.4(AGPS):c.372T>C (p.Gly124=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955775	NM_003659.4(AGPS):c.351-15T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955673	NM_003659.4(AGPS):c.783A>C (p.Ser261=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920273	NM_003659.4(AGPS):c.442-16C>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919997	NM_003659.4(AGPS):c.1234-15_1234-8del	AGPS	Deletion (intron variant)	not provided	GLikely benign
Select item 2919856	NM_003659.4(AGPS):c.1797+19A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2919097	NM_003659.4(AGPS):c.261-18A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917746	NM_003659.4(AGPS):c.680A>G (p.Lys227Arg)	AGPS (K227R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2914221	NM_003659.4(AGPS):c.1363-17T>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913181	NM_003659.4(AGPS):c.1285+18A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2913103	NM_003659.4(AGPS):c.1106-4dup	AGPS	Duplication (intron variant)	not provided	GBenign
Select item 2912106	NM_003659.4(AGPS):c.709+14C>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911549	NM_003659.4(AGPS):c.709+13C>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2911433	NM_003659.4(AGPS):c.996+8T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910042	NM_003659.4(AGPS):c.1798-17G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2909976	NM_003659.4(AGPS):c.871-16A>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2908531	NM_003659.4(AGPS):c.1286-17C>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903714	NM_003659.4(AGPS):c.84C>T (p.Asp28=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903360	NM_003659.4(AGPS):c.1285+12G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896446	NM_003659.4(AGPS):c.1855+12T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895915	NM_003659.4(AGPS):c.997-19C>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893612	NM_003659.4(AGPS):c.1234-20T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892969	NM_003659.4(AGPS):c.192G>A (p.Ala64=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890877	NM_003659.4(AGPS):c.563-15T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887268	NM_003659.4(AGPS):c.1134A>C (p.Thr378=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884404	NM_003659.4(AGPS):c.1697+16T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884392	NM_003659.4(AGPS):c.710-10A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882662	NM_003659.4(AGPS):c.997-15T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2881963	NM_003659.4(AGPS):c.1125A>G (p.Thr375=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877031	NM_003659.4(AGPS):c.1545+19C>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876944	NM_003659.4(AGPS):c.563-14T>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876500	NM_003659.4(AGPS):c.1546-16G>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875854	NM_003659.4(AGPS):c.1233+16T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875259	NM_003659.4(AGPS):c.1363-5T>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875224	NM_003659.4(AGPS):c.1607+12del	AGPS	Deletion (intron variant)	not provided	GLikely benign
Select item 2874624	NM_003659.4(AGPS):c.1698-14del	AGPS	Deletion (intron variant)	not provided	GBenign
Select item 2872176	NM_003659.4(AGPS):c.1607+18G>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870172	NM_003659.4(AGPS):c.870+12A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869431	NM_003659.4(AGPS):c.1545+20C>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868916	NM_003659.4(AGPS):c.1497T>C (p.Asp499=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864905	NM_003659.4(AGPS):c.1285+16T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862815	NM_003659.4(AGPS):c.351-9G>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2862395	NM_003659.4(AGPS):c.1545+19C>T	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861738	NM_003659.4(AGPS):c.1020A>G (p.Thr340=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2854551	NM_003659.4(AGPS):c.996+14T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852451	NM_003659.4(AGPS):c.735G>T (p.Leu245=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848996	NM_003659.4(AGPS):c.1476-9T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847250	NM_003659.4(AGPS):c.1546-6del	AGPS	Deletion (intron variant)	not provided	GLikely benign
Select item 2846967	NM_003659.4(AGPS):c.1233+13AT[8]	AGPS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2846802	NM_003659.4(AGPS):c.1363-13T>C	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846235	NM_003659.4(AGPS):c.350+7del	AGPS	Deletion (intron variant)	not provided	GLikely benign
Select item 2845086	NM_003659.4(AGPS):c.93G>T (p.Pro31=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840739	NM_003659.4(AGPS):c.820T>C (p.Leu274=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2838532	NM_003659.4(AGPS):c.562+12T>A	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838106	NM_003659.4(AGPS):c.1158A>G (p.Glu386=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835781	NM_003659.4(AGPS):c.201C>T (p.Ala67=)	AGPS, LOC129935172	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2834402	NM_003659.4(AGPS):c.441+19_441+21del	AGPS	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2833531	NM_003659.4(AGPS):c.1607+10A>G	AGPS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2833249	NM_003659.4(AGPS):c.1608-3del	AGPS	Deletion (intron variant)	not provided	GBenign
Select item 2832436	NM_003659.4(AGPS):c.1551G>A (p.Leu517=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827769	NM_003659.4(AGPS):c.1341A>G (p.Leu447=)	AGPS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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