"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "DGUOK"[ - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
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 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 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 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 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 (synonymous variant +2 more)	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) +1 more	GConflicting classifications of pathogenicity
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 (missense 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)	Inborn genetic diseases +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 (synonymous 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)	Inborn genetic diseases +1 more	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 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 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 (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 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 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 2706426	NM_080916.3(DGUOK):c.54_57dup (p.Lys20fs)	DGUOK, LOC129934096 (K20fs)	Duplication (frameshift 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)	not provided	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)	not provided +8 more	GUncertain significance
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 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 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 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 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 (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 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)	Inborn genetic diseases +2 more	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 214283	NM_080916.3(DGUOK):c.123C>G (p.Leu41=)	DGUOK, LOC129934096	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
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 253062	NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser)	LOC129934096, DGUOK (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 (missense 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 (non-coding transcript variant +2 more)	not provided	GUncertain significance
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	DGUOK, LOC129934096	Single nucleotide variant (intron variant)	not provided +1 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 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	GUncertain significance
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 137080	NM_080916.3(DGUOK):c.159G>A (p.Thr53=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
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 2896066	NM_080916.3(DGUOK):c.171A>G (p.Leu57=)	DGUOK	Single nucleotide variant (synonymous variant +1 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 1409386	NM_080916.3(DGUOK):c.176C>T (p.Thr59Met)	DGUOK (T59M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 214277	NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg)	DGUOK (T59R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 735409	NM_080916.3(DGUOK):c.189A>C (p.Pro63=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 449312	NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter)	DGUOK (W65*)	Single nucleotide variant (nonsense +1 more)	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 +3 more	GPathogenic
Select item 1990693	NM_080916.3(DGUOK):c.197A>T (p.His66Leu)	DGUOK (H66L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1989361	NM_080916.3(DGUOK):c.198C>T (p.His66=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 594276	NM_080916.3(DGUOK):c.198C>A (p.His66Gln)	DGUOK (H66Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1319234	NM_080916.3(DGUOK):c.199G>A (p.Val67Ile)	DGUOK (V67I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1390608	NM_080916.3(DGUOK):c.206C>T (p.Thr69Ile)	DGUOK (T69I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 208752	NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala)	DGUOK (P71A)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
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 1939518	NM_080916.3(DGUOK):c.218C>G (p.Ala73Gly)	DGUOK (A73G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1968811	NM_080916.3(DGUOK):c.225G>A (p.Trp75Ter)	DGUOK (W75*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2020035	NM_080916.3(DGUOK):c.226C>T (p.Gln76Ter)	DGUOK (Q76*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1322207	NM_080916.3(DGUOK):c.235C>T (p.Gln79Ter)	DGUOK (Q79*)	Single nucleotide variant (nonsense +1 more)	Portal hypertension, noncirrhotic, 1 +3 more	GPathogenic
Select item 1995305	NM_080916.3(DGUOK):c.240T>C (p.Ala80=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1549325	NM_080916.3(DGUOK):c.243T>A (p.Ala81=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1933710	NM_080916.3(DGUOK):c.246C>A (p.Gly82=)	DGUOK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909198	NM_080916.3(DGUOK):c.255+8T>G	DGUOK	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 2960959	NM_080916.3(DGUOK):c.255+19_255+21del	DGUOK	Microsatellite (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 1625137	NM_080916.3(DGUOK):c.256-20T>C	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 507132	NM_080916.3(DGUOK):c.256-14del	DGUOK	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2853215	NM_080916.3(DGUOK):c.256-19T>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 2820629	NM_080916.3(DGUOK):c.256-17T>G	DGUOK	Single nucleotide variant (intron variant)	not provided	GLikely benign

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