ClinVar for Gene (Select 1716) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 369

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247583	NC_000002.11:g.(?_74185253)_(74185863_?)del	DGUOK	Deletion	not provided	GPathogenic
Select item 3247582	NC_000002.11:g.(?_74184232)_(74185863_?)del	DGUOK	Deletion	not provided	GPathogenic
Select item 3247581	NC_000002.11:g.(?_74177650)_(74185863_?)del	DGUOK	Deletion	not provided	GPathogenic
Select item 3247579	NC_000002.11:g.(?_74173826)_(74177879_?)del	DGUOK	Deletion	not provided	GPathogenic
Select item 3247578	NC_000002.11:g.(?_74143691)_(74177879_?)del	ACTG2, DGUOK	Deletion	not provided	GPathogenic
Select item 3247577	NC_000002.11:g.(?_74143691)_(74166169_?)del	ACTG2, DGUOK	Deletion	not provided	GPathogenic
Select item 3247576	NC_000002.11:g.(?_74166017)_(74166169_?)del	DGUOK	Deletion	not provided	GPathogenic
Select item 3235886	NM_080916.3(DGUOK):c.255+3_255+6del	DGUOK	Microsatellite (intron variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GLikely pathogenic
Select item 3082004	NM_080916.3(DGUOK):c.64C>G (p.Pro22Ala)	DGUOK, LOC129934096 (P22A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3082002	NM_080916.3(DGUOK):c.112C>A (p.Pro38Thr)	DGUOK, LOC129934096 (P38T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3062659	GRCh37/hg19 2p13.3-12(chr2:71076472-76368354)x1	ACTG2, ALMS1 +60 more	Copy number loss	not specified	GLikely pathogenic
Select item 3061717	NM_080916.3(DGUOK):c.120G>A (p.Arg40=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related disorder	GLikely benign
Select item 3055577	NM_080916.3(DGUOK):c.444-75TC[6]	DGUOK	Microsatellite (intron variant)	DGUOK-related disorder	GLikely benign
Select item 3050741	NM_080916.3(DGUOK):c.736C>T (p.Pro246Ser)	DGUOK, DGUOK-AS1 (P143S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	DGUOK-related disorder	GUncertain significance
Select item 3047575	NM_080916.3(DGUOK):c.-10C>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related disorder	GLikely benign
Select item 3044817	NM_080916.3(DGUOK):c.-5G>A	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related disorder	GLikely benign
Select item 3029487	NM_080916.3(DGUOK):c.-2G>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related disorder	GLikely benign
Select item 3029419	NM_080916.3(DGUOK):c.143-19C>T	DGUOK	Single nucleotide variant (intron variant)	DGUOK-related disorder	GLikely benign
Select item 3023329	NM_080916.3(DGUOK):c.708-11G>A	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3017570	NM_080916.3(DGUOK):c.453T>C (p.Phe151=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3012845	NM_080916.3(DGUOK):c.367C>T (p.Leu123=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3008128	NM_080916.3(DGUOK):c.443+9C>T	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007048	NM_080916.3(DGUOK):c.601_602del (p.Lys201fs)	DGUOK (K201fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 3006937	NM_080916.3(DGUOK):c.808-19G>C	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006596	NM_080916.3(DGUOK):c.711C>T (p.Leu237=)	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3006507	NM_080916.3(DGUOK):c.444-62C>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004883	NM_080916.3(DGUOK):c.592-17T>C	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003773	NM_080916.3(DGUOK):c.444-7C>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998980	NM_080916.3(DGUOK):c.354C>T (p.Arg118=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2998829	NM_080916.3(DGUOK):c.708-17G>T	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2997224	NM_080916.3(DGUOK):c.327A>G (p.Thr109=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2993744	NM_080916.3(DGUOK):c.708-2A>G	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 2991704	NM_080916.3(DGUOK):c.808-10C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990374	NM_080916.3(DGUOK):c.476_477del (p.Gly159fs)	DGUOK (G56fs +2 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2988857	NM_080916.3(DGUOK):c.256-4C>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987191	NM_080916.3(DGUOK):c.707+20T>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986457	NM_080916.3(DGUOK):c.143-7A>C	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984851	NM_080916.3(DGUOK):c.468T>C (p.Phe156=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2982979	NM_080916.3(DGUOK):c.102G>A (p.Ala34=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2979186	NM_080916.3(DGUOK):c.142+8C>T	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973268	NM_080916.3(DGUOK):c.51C>A (p.Ser17=)	LOC129934096, DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2970340	NM_080916.3(DGUOK):c.708-12C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2970092	NM_080916.3(DGUOK):c.708-10C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2969360	NM_080916.3(DGUOK):c.177G>A (p.Thr59=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2964871	NM_080916.3(DGUOK):c.142+20T>C	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963060	NM_080916.3(DGUOK):c.57C>G (p.Ala19=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2960959	NM_080916.3(DGUOK):c.255+19_255+21del	DGUOK	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2958094	NM_080916.3(DGUOK):c.143-13A>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957959	NM_080916.3(DGUOK):c.810A>G (p.Val270=)	DGUOK, DGUOK-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2957760	NM_080916.3(DGUOK):c.444-10T>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956341	NM_080916.3(DGUOK):c.443+16C>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900069	NM_080916.3(DGUOK):c.18C>T (p.Leu6=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2896704	NM_080916.3(DGUOK):c.388C>T (p.Leu130Phe)	DGUOK (L33F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2896066	NM_080916.3(DGUOK):c.171A>G (p.Leu57=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2878768	NM_080916.3(DGUOK):c.142+16C>A	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878555	NM_080916.3(DGUOK):c.707+17_707+19del	DGUOK	Deletion (intron variant)	not provided	GLikely benign
Select item 2877620	NM_080916.3(DGUOK):c.283T>C (p.Leu95=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2875517	NM_080916.3(DGUOK):c.807+19C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874760	NM_080916.3(DGUOK):c.75C>A (p.Gly25=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2873259	NM_080916.3(DGUOK):c.591+18A>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871957	NM_080916.3(DGUOK):c.618G>A (p.Arg206=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2869892	NM_080916.3(DGUOK):c.372G>A (p.Glu124=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2867927	NM_080916.3(DGUOK):c.143-1G>A	DGUOK	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 2867919	NM_080916.3(DGUOK):c.411A>G (p.Val137=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865010	NM_080916.3(DGUOK):c.708-19A>C	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2864609	NM_080916.3(DGUOK):c.596G>C (p.Cys199Ser)	DGUOK (C96S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2864470	NM_080916.3(DGUOK):c.723T>G (p.Ala241=)	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 2860404	NM_080916.3(DGUOK):c.592-9G>C	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859581	NM_080916.3(DGUOK):c.256-18T>C	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859462	NM_080916.3(DGUOK):c.414G>A (p.Gln138=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2857264	NM_080916.3(DGUOK):c.444-7C>T	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2856428	NM_080916.3(DGUOK):c.255+20G>C	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853215	NM_080916.3(DGUOK):c.256-19T>C	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853002	NM_080916.3(DGUOK):c.498G>A (p.Trp166Ter)	DGUOK (W166* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 2852137	NM_080916.3(DGUOK):c.22C>T (p.Leu8=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2848648	NM_080916.3(DGUOK):c.84C>T (p.Ser28=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2846341	NM_080916.3(DGUOK):c.143-15C>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846083	NM_080916.3(DGUOK):c.707+12G>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844806	NM_080916.3(DGUOK):c.99C>T (p.His33=)	LOC129934096, DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2843953	NM_080916.3(DGUOK):c.787_789del (p.Gln263del)	DGUOK, DGUOK-AS1 (Q169del +4 more)	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 2843871	NM_080916.3(DGUOK):c.162T>C (p.Phe54=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2838518	NM_080916.3(DGUOK):c.123C>T (p.Leu41=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2822889	NM_080916.3(DGUOK):c.808-15T>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2822488	NM_080916.3(DGUOK):c.255+12G>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820629	NM_080916.3(DGUOK):c.256-17T>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819825	NM_080916.3(DGUOK):c.213T>G (p.Pro71=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2808229	NM_080916.3(DGUOK):c.501T>C (p.His167=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2804956	NM_080916.3(DGUOK):c.592-9_592-6dup	DGUOK	Duplication (intron variant)	not provided	GLikely benign
Select item 2803931	NM_080916.3(DGUOK):c.591+20C>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803310	NM_080916.3(DGUOK):c.270A>G (p.Gln90=)	DGUOK	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2802719	NM_080916.3(DGUOK):c.94_106del (p.Leu32fs)	DGUOK, LOC129934096 (L32fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 2798710	NM_080916.3(DGUOK):c.24A>G (p.Leu8=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2796296	NM_080916.3(DGUOK):c.592-9G>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792923	NM_080916.3(DGUOK):c.6C>T (p.Ala2=)	DGUOK, LOC129934096	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2792376	NM_080916.3(DGUOK):c.387A>G (p.Lys129=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2790322	NM_080916.3(DGUOK):c.66_78del (p.Leu23fs)	DGUOK, LOC129934096 (L23fs)	Deletion (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 2788985	NM_080916.3(DGUOK):c.15C>T (p.Arg5=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2785025	NM_080916.3(DGUOK):c.174C>G (p.Leu58=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2783353	NM_080916.3(DGUOK):c.808-20T>C	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782336	NM_080916.3(DGUOK):c.591+1G>A	DGUOK	Single nucleotide variant (splice donor variant +1 more)	not provided	GLikely pathogenic

<< First< Prev

Page of 4