ClinVar for Gene (Select 55697) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	AARS1, AP1G1 +27 more	Deletion	not provided	GPathogenic
Select item 3243569	NC_000016.9:g.(?_70305664)_(70834803_?)dup	FCSK, DDX19B +8 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AP1G1, AARS1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3188117	NM_018052.5(VAC14):c.808A>G (p.Thr270Ala)	VAC14 (T270A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188116	NM_018052.5(VAC14):c.672C>G (p.Ile224Met)	VAC14 (I224M)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3188115	NM_018052.5(VAC14):c.2057A>G (p.Asp686Gly)	VAC14 (D452G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188114	NM_018052.5(VAC14):c.1721T>C (p.Leu574Pro)	VAC14 (L340P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188113	NM_018052.5(VAC14):c.1567A>G (p.Met523Val)	VAC14 (M289V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3188112	NM_018052.5(VAC14):c.1355C>T (p.Ser452Leu)	VAC14, VAC14-AS1 (S218L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3011319	NM_018052.5(VAC14):c.2187-12C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003493	NM_018052.5(VAC14):c.1869C>A (p.Arg623=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003197	NM_018052.5(VAC14):c.1372-15C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001838	NM_018052.5(VAC14):c.1929G>A (p.Arg643=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999739	NM_018052.5(VAC14):c.1372-19G>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2999195	NM_018052.5(VAC14):c.487-13C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998231	NM_018052.5(VAC14):c.2081T>C (p.Ile694Thr)	VAC14 (I694T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993298	NM_018052.5(VAC14):c.333C>T (p.Tyr111=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2992562	NM_018052.5(VAC14):c.399C>T (p.Asn133=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2990966	NM_018052.5(VAC14):c.423+15C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989736	NM_018052.5(VAC14):c.424-19C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989631	NM_018052.5(VAC14):c.363C>G (p.Val121=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2989530	NM_018052.5(VAC14):c.1837-7C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989421	NM_018052.5(VAC14):c.2036-20C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988671	NM_018052.5(VAC14):c.2055G>A (p.Leu685=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988310	NM_018052.5(VAC14):c.786C>T (p.Ile262=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986942	NM_018052.5(VAC14):c.705-11C>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986699	NM_018052.5(VAC14):c.1780C>T (p.Leu594=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984893	NM_018052.5(VAC14):c.417G>A (p.Leu139=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2981989	NM_018052.5(VAC14):c.1300C>A (p.Arg434=)	VAC14, VAC14-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979989	NM_018052.5(VAC14):c.1524C>T (p.Thr508=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977637	NM_018052.5(VAC14):c.1115G>A (p.Cys372Tyr)	VAC14-AS1, VAC14 (C372Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2976236	NM_018052.5(VAC14):c.2100G>A (p.Leu700=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970720	NM_018052.5(VAC14):c.414G>A (p.Gly138=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2968905	NM_018052.5(VAC14):c.645G>A (p.Pro215=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2965808	NM_018052.5(VAC14):c.1528+13C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962134	NM_018052.5(VAC14):c.873C>A (p.Arg291=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959794	NM_018052.5(VAC14):c.1638G>A (p.Glu546=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959343	NM_018052.5(VAC14):c.104+7G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955421	NM_018052.5(VAC14):c.1371+18C>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907040	NM_018052.5(VAC14):c.1661+7C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902012	NM_018052.5(VAC14):c.2103C>T (p.Leu701=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901622	NM_018052.5(VAC14):c.2238C>T (p.Ile746=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2901230	NM_018052.5(VAC14):c.1407C>T (p.Ile469=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898922	NM_018052.5(VAC14):c.1803G>A (p.Gln601=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898450	NM_018052.5(VAC14):c.2094C>T (p.Tyr698=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2889044	NM_018052.5(VAC14):c.1097-4C>A	VAC14, VAC14-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2884262	NM_018052.5(VAC14):c.1435G>A (p.Asp479Asn)	VAC14 (D245N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880168	NM_018052.5(VAC14):c.654G>T (p.Leu218=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2876287	NM_018052.5(VAC14):c.1491G>T (p.Val497=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874494	NM_018052.5(VAC14):c.487-11C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868050	NM_018052.5(VAC14):c.1378C>T (p.Leu460=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865221	NM_018052.5(VAC14):c.2260C>A (p.His754Asn)	VAC14 (H754N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854684	NM_018052.5(VAC14):c.2277G>A (p.Gln759=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840244	NM_018052.5(VAC14):c.487-5C>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2824811	NM_018052.5(VAC14):c.243C>A (p.Ile81=)	VAC14	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2820308	NM_018052.5(VAC14):c.322A>C (p.Arg108=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2819905	NM_018052.5(VAC14):c.603T>A (p.Val201=)	VAC14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2818913	NM_018052.5(VAC14):c.1965G>A (p.Leu655=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818214	NM_018052.5(VAC14):c.601G>C (p.Val201Leu)	VAC14 (V201L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2810791	NM_018052.5(VAC14):c.1161-5C>A	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800037	NM_018052.5(VAC14):c.2186+17G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797135	NM_018052.5(VAC14):c.1161-14G>C	VAC14, VAC14-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2794616	NM_018052.5(VAC14):c.2001G>A (p.Lys667=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785304	NM_018052.5(VAC14):c.111C>G (p.Val37=)	VAC14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2781557	NM_018052.5(VAC14):c.2154G>A (p.Gln718=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781309	NM_018052.5(VAC14):c.104+17C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781125	NM_018052.5(VAC14):c.812-15del	VAC14	Deletion (intron variant)	not provided	GLikely benign
Select item 2780187	NM_018052.5(VAC14):c.2187-10C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776620	NM_018052.5(VAC14):c.2035+12C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767639	NM_018052.5(VAC14):c.56del (p.Asn19fs)	VAC14 (N19fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2765358	NM_018052.5(VAC14):c.811+14G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758261	NM_018052.5(VAC14):c.477C>A (p.Arg159=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2719164	NM_018052.5(VAC14):c.660A>T (p.Gly220=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2713074	NM_018052.5(VAC14):c.423+8C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710176	NM_018052.5(VAC14):c.1306-14T>G	VAC14-AS1, VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709777	NM_018052.5(VAC14):c.1529-14C>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708870	NM_018052.5(VAC14):c.510G>A (p.Lys170=)	VAC14	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2705607	NM_018052.5(VAC14):c.317A>G (p.Asp106Gly)	VAC14 (D106G)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2697397	NM_018052.5(VAC14):c.255+11C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2694910	NM_018052.5(VAC14):c.1529-19T>C	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684814	GRCh37/hg19 16q22.2(chr16:70823633-71541641)x3	CALB2, CMTR2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
Select item 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2664898	NM_018052.5(VAC14):c.921C>A (p.Cys307Ter)	VAC14 (C307* +1 more)	Single nucleotide variant (nonsense)	Striatonigral degeneration, childhood-onset	GLikely pathogenic
Select item 2646687	NM_018052.5(VAC14):c.138C>A (p.Thr46=)	VAC14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2646686	NM_018052.5(VAC14):c.2186+825G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2606018	NM_018052.5(VAC14):c.86C>T (p.Ala29Val)	VAC14 (A29V)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592258	NM_018052.5(VAC14):c.1625G>A (p.Arg542Gln)	VAC14 (R308Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2535507	NM_018052.5(VAC14):c.813T>G (p.Asp271Glu)	VAC14 (D271E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2492630	NM_018052.5(VAC14):c.1981T>C (p.Phe661Leu)	VAC14 (F427L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489299	NM_018052.5(VAC14):c.1036C>G (p.Gln346Glu)	VAC14 (Q112E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484036	NM_018052.5(VAC14):c.139G>A (p.Val47Met)	VAC14 (V47M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438507	NM_018052.5(VAC14):c.1063G>A (p.Asp355Asn)	VAC14 (D121N +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GUncertain significance
Select item 2438506	NM_018052.5(VAC14):c.1339C>G (p.Leu447Val)	VAC14, VAC14-AS1 (L213V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2426425	NC_000016.9:g.(?_70497094)_(70834803_?)dup	COG4, FCSK +4 more	Duplication	not provided	GUncertain significance
Select item 2426424	NC_000016.9:g.(?_70721831)_(70834803_?)del	VAC14	Deletion	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2420949	NM_018052.5(VAC14):c.1346A>T (p.Gln449Leu)	VAC14-AS1, VAC14 (Q215L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414852	NM_018052.5(VAC14):c.840C>T (p.Cys280=)	VAC14	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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