Related gene-specific medical variations for Gene (Select 1716) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3360867	NM_080916.3(DGUOK):c.814A>G (p.Thr272Ala)	DGUOK (T169A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 3247576	NC_000002.11:g.(?_74166017)_(74166169_?)del	DGUOK	Deletion	not provided	GPathogenic
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 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 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 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 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-AS1, DGUOK	Single nucleotide variant (non-coding transcript 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 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 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=)	DGUOK, LOC129934096	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 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 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 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 2878768	NM_080916.3(DGUOK):c.142+16C>A	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	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 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 2864470	NM_080916.3(DGUOK):c.723T>G (p.Ala241=)	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 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 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 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 2792923	NM_080916.3(DGUOK):c.6C>T (p.Ala2=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2790322	NM_080916.3(DGUOK):c.66_78del (p.Leu23fs)	DGUOK, LOC129934096 (L23fs)	Deletion (frameshift 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 2783353	NM_080916.3(DGUOK):c.808-20T>C	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779705	NM_080916.3(DGUOK):c.81C>T (p.Ser27=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2764050	NM_080916.3(DGUOK):c.9G>C (p.Ala3=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2762166	NM_080916.3(DGUOK):c.142+18G>A	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755482	NM_080916.3(DGUOK):c.807+11C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2755115	NM_080916.3(DGUOK):c.735T>C (p.Ile245=)	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2741055	NM_080916.3(DGUOK):c.708-4A>G	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2734237	NM_080916.3(DGUOK):c.80_81dup (p.Ser28fs)	DGUOK, LOC129934096 (S28fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2734236	NM_080916.3(DGUOK):c.20_23del (p.Leu6_Phe7insTer)	DGUOK, LOC129934096	Deletion (nonsense +2 more)	not provided	GPathogenic
Select item 2734235	NM_080916.3(DGUOK):c.2T>C (p.Met1Thr)	DGUOK, LOC129934096 (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 2706426	NM_080916.3(DGUOK):c.54_57dup (p.Lys20fs)	DGUOK, LOC129934096 (K20fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 2697585	NM_080916.3(DGUOK):c.807+14del	DGUOK, DGUOK-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2681150	NM_080916.3(DGUOK):c.173T>C (p.Leu58Pro)	DGUOK (L58P)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GLikely pathogenic
Select item 2584542	NM_080916.3(DGUOK):c.142+4A>C	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GLikely pathogenic
Select item 2581440	NM_080916.3(DGUOK):c.834A>T (p.Ter278Tyr)	DGUOK, DGUOK-AS1	Single nucleotide variant (stop lost +1 more)	not specified	GUncertain significance
Select item 2442201	NM_080916.3(DGUOK):c.14G>A (p.Arg5His)	DGUOK, LOC129934096 (R5H)	Single nucleotide variant (non-coding transcript variant +2 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	GUncertain significance
Select item 2440752	NM_080916.3(DGUOK):c.545G>C (p.Ser182Thr)	DGUOK (S182T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2440751	NM_080916.3(DGUOK):c.7G>C (p.Ala3Pro)	DGUOK, LOC129934096 (A3P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2440750	NM_080916.3(DGUOK):c.52A>G (p.Met18Val)	DGUOK, LOC129934096 (M18V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2414086	NM_080916.3(DGUOK):c.7G>T (p.Ala3Ser)	DGUOK, LOC129934096 (A3S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2337319	NM_080916.3(DGUOK):c.28C>T (p.Arg10Trp)	DGUOK, LOC129934096 (R10W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2320576	NM_080916.3(DGUOK):c.92G>C (p.Gly31Ala)	DGUOK, LOC129934096 (G31A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2238979	NM_080916.3(DGUOK):c.800T>C (p.Met267Thr)	DGUOK, DGUOK-AS1 (M164T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2203106	NM_080916.3(DGUOK):c.737C>G (p.Pro246Arg)	DGUOK, DGUOK-AS1 (P143R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2190160	NM_080916.3(DGUOK):c.8C>A (p.Ala3Glu)	DGUOK, LOC129934096 (A3E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2184099	NM_080916.3(DGUOK):c.93C>G (p.Gly31=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2107760	NM_080916.3(DGUOK):c.100G>A (p.Ala34Thr)	DGUOK, LOC129934096 (A34T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2101602	NM_080916.3(DGUOK):c.69C>G (p.Leu23=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2101280	NM_080916.3(DGUOK):c.115C>G (p.Arg39Gly)	DGUOK, LOC129934096 (R39G)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2040263	NM_080916.3(DGUOK):c.796C>T (p.Leu266Phe)	DGUOK, DGUOK-AS1 (L266F +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2004480	NM_080916.3(DGUOK):c.827A>C (p.Asn276Thr)	DGUOK, DGUOK-AS1 (N276T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1970605	NM_080916.3(DGUOK):c.142+13A>C	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964892	NM_080916.3(DGUOK):c.139A>G (p.Ile47Val)	DGUOK, LOC129934096 (I47V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1956753	NM_080916.3(DGUOK):c.6C>G (p.Ala2=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1955362	NM_080916.3(DGUOK):c.141T>G (p.Ile47Met)	DGUOK, LOC129934096 (I47M)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1952313	NM_080916.3(DGUOK):c.46A>G (p.Ser16Gly)	DGUOK, LOC129934096 (S16G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1949915	NM_080916.3(DGUOK):c.807+20C>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938774	NM_080916.3(DGUOK):c.16C>T (p.Leu6Phe)	DGUOK, LOC129934096 (L6F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1938143	NM_080916.3(DGUOK):c.22C>G (p.Leu8Val)	DGUOK, LOC129934096 (L8V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1934183	NM_080916.3(DGUOK):c.808-6C>G	DGUOK, DGUOK-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925328	NM_080916.3(DGUOK):c.42C>G (p.Pro14=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1919707	NM_080916.3(DGUOK):c.708-17G>A	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1918027	NM_080916.3(DGUOK):c.708-18C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1904667	NM_080916.3(DGUOK):c.50C>G (p.Ser17Cys)	DGUOK, LOC129934096 (S17C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1693816	NM_080916.3(DGUOK):c.70G>C (p.Glu24Gln)	DGUOK, LOC129934096 (E24Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1663495	NM_080916.3(DGUOK):c.93C>A (p.Gly31=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1526089	NM_080916.3(DGUOK):c.789AGA[1] (p.Glu264del)	DGUOK, DGUOK-AS1 (E161del +4 more)	Microsatellite (inframe_deletion +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	GUncertain significance
Select item 1492090	NM_080916.3(DGUOK):c.772G>A (p.Glu258Lys)	DGUOK, DGUOK-AS1 (E161K +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1489730	NM_080916.3(DGUOK):c.44T>A (p.Phe15Tyr)	DGUOK, LOC129934096 (F15Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1478207	NM_080916.3(DGUOK):c.47G>T (p.Ser16Ile)	DGUOK, LOC129934096 (S16I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1430616	NM_080916.3(DGUOK):c.792A>C (p.Glu264Asp)	DGUOK, DGUOK-AS1 (E264D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1421990	NM_080916.3(DGUOK):c.56C>T (p.Ala19Val)	DGUOK, LOC129934096 (A19V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1324223	NM_080916.3(DGUOK):c.3G>A (p.Met1Ile)	DGUOK, LOC129934096 (M1I)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 1312054	NM_080916.3(DGUOK):c.136A>G (p.Asn46Asp)	DGUOK, LOC129934096 (N46D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1191775	NM_080916.3(DGUOK):c.101C>T (p.Ala34Val)	DGUOK, LOC129934096 (A34V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1028542	NM_080916.3(DGUOK):c.13C>T (p.Arg5Cys)	DGUOK, LOC129934096 (R5C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1012944	NM_080916.3(DGUOK):c.771T>C (p.Ser257=)	DGUOK, DGUOK-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 897205	NM_080916.3(DGUOK):c.*119C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GBenign
Select item 897204	NM_080916.3(DGUOK):c.*7C>T	DGUOK, DGUOK-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance

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