1716[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC129934199, LOC129934200 +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	C2orf74, CCT4 +768 more	Copy number gain	See cases	GPathogenic
Select item 1209352	NC_000002.12:g.73926524dup	DGUOK	Duplication	not provided	GLikely benign
Select item 1263513	NC_000002.12:g.73926524del	DGUOK	Deletion	not provided	GBenign
Select item 1294364	NC_000002.12:g.73926778C>T	DGUOK	Single nucleotide variant	not provided	GBenign
Select item 337040	NM_080916.2(DGUOK):c.-60_-57dup	DGUOK	Duplication	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 337041	NM_080916.2(DGUOK):c.-54C>A	DGUOK	Single nucleotide variant	Mitochondrial DNA depletion syndrome	GUncertain significance
Select item 1234715	NC_000002.12:g.73926872_73926886del	DGUOK	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 137084	NM_080916.2(DGUOK):c.-48G>A	DGUOK	Single nucleotide variant	Mitochondrial DNA depletion syndrome +1 more	GBenign/Likely benign
Select item 337042	NM_080916.3(DGUOK):c.-21G>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
Select item 3047575	NM_080916.3(DGUOK):c.-10C>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related condition	GLikely benign
Select item 337043	NM_080916.3(DGUOK):c.-8T>C	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 3044817	NM_080916.3(DGUOK):c.-5G>A	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related condition	GLikely benign
Select item 3029487	NM_080916.3(DGUOK):c.-2G>T	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	DGUOK-related condition	GLikely benign
Select item 337044	NM_080916.3(DGUOK):c.-1G>A	DGUOK	Single nucleotide variant (5 prime UTR variant +1 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
Select item 2203104	NM_080916.3(DGUOK):c.1A>G (p.Met1Val)	DGUOK (M1V)	Single nucleotide variant (missense variant +3 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 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 193482	NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)	DGUOK, LOC129934096 (A2S)	Single nucleotide variant (missense variant +2 more)	DGUOK-related condition +2 more	GConflicting classifications of pathogenicity
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 1956753	NM_080916.3(DGUOK):c.6C>G (p.Ala2=)	DGUOK, LOC129934096	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
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 2414086	NM_080916.3(DGUOK):c.7G>T (p.Ala3Ser)	DGUOK, LOC129934096 (A3S)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2190160	NM_080916.3(DGUOK):c.8C>A (p.Ala3Glu)	DGUOK, LOC129934096 (A3E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 214281	NM_080916.3(DGUOK):c.8C>G (p.Ala3Gly)	DGUOK, LOC129934096 (A3G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 895310	NM_080916.3(DGUOK):c.9G>T (p.Ala3=)	DGUOK, LOC129934096	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
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 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 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 1938774	NM_080916.3(DGUOK):c.16C>T (p.Leu6Phe)	DGUOK, LOC129934096 (L6F)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2734236	NM_080916.3(DGUOK):c.20_23del (p.Leu6_Phe7insTer)	DGUOK, LOC129934096	Deletion (nonsense +2 more)	not provided	GPathogenic
Select item 214282	NM_080916.3(DGUOK):c.17T>A (p.Leu6His)	DGUOK, LOC129934096 (L6H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 384580	NM_080916.3(DGUOK):c.18C>G (p.Leu6=)	DGUOK, LOC129934096	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	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 1938143	NM_080916.3(DGUOK):c.22C>G (p.Leu8Val)	DGUOK, LOC129934096 (L8V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 1925328	NM_080916.3(DGUOK):c.42C>G (p.Pro14=)	DGUOK, LOC129934096	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
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 1952313	NM_080916.3(DGUOK):c.46A>G (p.Ser16Gly)	DGUOK, LOC129934096 (S16G)	Single nucleotide variant (5 prime UTR 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 1904667	NM_080916.3(DGUOK):c.50C>G (p.Ser17Cys)	DGUOK, LOC129934096 (S17C)	Single nucleotide variant (missense variant +2 more)	DGUOK-related condition +1 more	GUncertain significance
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 2440750	NM_080916.3(DGUOK):c.52A>G (p.Met18Val)	DGUOK, LOC129934096 (M18V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2706426	NM_080916.3(DGUOK):c.54_57dup (p.Lys20fs)	DGUOK, LOC129934096 (K20fs)	Duplication (non-coding transcript variant +2 more)	not provided	GPathogenic
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 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 498112	NM_080916.3(DGUOK):c.60G>A (p.Lys20=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related condition +1 more	GConflicting classifications of pathogenicity
Select item 523554	NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu)	DGUOK, LOC129934096 (P22L)	Single nucleotide variant (missense variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +8 more	GUncertain significance
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 2101602	NM_080916.3(DGUOK):c.69C>G (p.Leu23=)	LOC129934096, DGUOK	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related condition +1 more	GLikely benign
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 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 2734237	NM_080916.3(DGUOK):c.80_81dup (p.Ser28fs)	DGUOK, LOC129934096 (S28fs)	Duplication (frameshift variant +2 more)	not provided	GPathogenic
Select item 497803	NM_080916.3(DGUOK):c.80C>T (p.Ser27Phe)	DGUOK, LOC129934096 (S27F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 2802719	NM_080916.3(DGUOK):c.94_106del (p.Leu32fs)	DGUOK, LOC129934096 (L32fs)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
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 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 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 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 2107760	NM_080916.3(DGUOK):c.100G>A (p.Ala34Thr)	DGUOK, LOC129934096 (A34T)	Single nucleotide variant (5 prime UTR 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 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 2101280	NM_080916.3(DGUOK):c.115C>G (p.Arg39Gly)	DGUOK, LOC129934096 (R39G)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	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 condition	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 214283	NM_080916.3(DGUOK):c.123C>G (p.Leu41=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 593140	NM_080916.3(DGUOK):c.127A>G (p.Ile43Val)	DGUOK, LOC129934096 (I43V)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 253066	NM_080916.3(DGUOK):c.130G>A (p.Glu44Lys)	DGUOK, LOC129934096 (E44K)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
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 253062	NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)	DGUOK, LOC129934096 (N46S)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic/Likely pathogenic
Select item 1964892	NM_080916.3(DGUOK):c.139A>G (p.Ile47Val)	DGUOK, LOC129934096 (I47V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1955362	NM_080916.3(DGUOK):c.141T>G (p.Ile47Met)	DGUOK, LOC129934096 (I47M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 337045	NM_080916.3(DGUOK):c.142+1G>T	DGUOK, LOC129934096	Single nucleotide variant (splice donor variant)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	GUncertain significance
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 421236	NM_080916.3(DGUOK):c.142+10_142+40del	DGUOK, LOC129934096	Deletion (intron variant)	not provided +1 more	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 214284	NM_080916.3(DGUOK):c.142+9C>T	LOC129934096, DGUOK	Single nucleotide variant (intron variant)	DGUOK-related condition +2 more	GBenign/Likely benign
Select item 1970605	NM_080916.3(DGUOK):c.142+13A>C	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	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 2762166	NM_080916.3(DGUOK):c.142+18G>A	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	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 679277	NM_080916.3(DGUOK):c.143-181G>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3029419	NM_080916.3(DGUOK):c.143-19C>T	DGUOK	Single nucleotide variant (intron variant)	DGUOK-related condition	GLikely benign
Select item 2781768	NM_080916.3(DGUOK):c.143-17T>C	DGUOK	Single nucleotide variant (intron variant)	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 2692867	NM_080916.3(DGUOK):c.143-14T>C	DGUOK	Single nucleotide variant (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 2019476	NM_080916.3(DGUOK):c.143-10T>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986457	NM_080916.3(DGUOK):c.143-7A>C	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742798	NM_080916.3(DGUOK):c.143-7A>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970138	NM_080916.3(DGUOK):c.143-6T>C	DGUOK	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 598270	NM_080916.3(DGUOK):c.143-4G>A	DGUOK	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
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 420751	NM_080916.3(DGUOK):c.152A>G (p.Lys51Arg)	DGUOK (K51R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 638350	NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys)	DGUOK (S52C)	Single nucleotide variant (missense variant +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4	GUncertain significance

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