ClinVar for MedGen (Select 1682503) - ClinVar

Links from MedGen

Items: 49

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25845421.	NM_080916.3(DGUOK):c.142+4A>C GRCh37: Chr2:74154183 GRCh38: Chr2:73927056	DGUOK, LOC129934096		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Likely pathogenic (Oct 19, 2023)	criteria provided, single submitter
Select item 25723862.	NM_080916.3(DGUOK):c.173_176del (p.Leu58fs) GRCh37: Chr2:74166065-74166068 GRCh38: Chr2:73938938-73938941	DGUOK	L58fs	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic	criteria provided, single submitter
Select item 10285423.	NM_080916.3(DGUOK):c.13C>T (p.Arg5Cys) GRCh37: Chr2:74154050 GRCh38: Chr2:73926923	DGUOK, LOC129934096	R5C	Inborn genetic diseases, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8972054.	NM_080916.3(DGUOK):c.*119C>T GRCh37: Chr2:74185982 GRCh38: Chr2:73958855	DGUOK, DGUOK-AS1		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8972045.	NM_080916.3(DGUOK):c.*7C>T GRCh37: Chr2:74185870 GRCh38: Chr2:73958743	DGUOK, DGUOK-AS1		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8972036.	NM_080916.3(DGUOK):c.684C>G (p.Ala228=) GRCh37: Chr2:74184344 GRCh38: Chr2:73957217	DGUOK		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8967327.	NM_080916.3(DGUOK):c.655C>T (p.Leu219=) GRCh37: Chr2:74184315 GRCh38: Chr2:73957188	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 8953118.	NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr) GRCh37: Chr2:74173855 GRCh38: Chr2:73946728	DGUOK	A89T	not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8953109.	NM_080916.3(DGUOK):c.9G>T (p.Ala3=) GRCh37: Chr2:74154046 GRCh38: Chr2:73926919	DGUOK, LOC129934096		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87176310.	NM_080916.3(DGUOK):c.707+3_707+6del GRCh37: Chr2:74184366-74184369 GRCh38: Chr2:73957239-73957242	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80172511.	NM_080916.3(DGUOK):c.707+2T>G GRCh37: Chr2:74184369 GRCh38: Chr2:73957242	DGUOK		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 55936812.	NM_080916.3(DGUOK):c.492C>T (p.Ile164=) GRCh37: Chr2:74177760 GRCh38: Chr2:73950633	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (May 12, 2022)	criteria provided, conflicting interpretations
Select item 52355413.	NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu) GRCh37: Chr2:74154102 GRCh38: Chr2:73926975	DGUOK, LOC129934096	P22L	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Memory impairment, Hypoplasia of the corpus callosum, Cognitive impairment, Increased CSF lactate, Cerebral atrophy, Increased serum pyruvate, Migraine with aura, not provided	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52355314.	NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu) GRCh37: Chr2:74173868 GRCh38: Chr2:73946741	DGUOK	G93E	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Migraine with aura, Increased CSF lactate, Increased serum pyruvate, Memory impairment, Cerebral atrophy, Hypoplasia of the corpus callosum, Cognitive impairment	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter
Select item 48849115.	NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) GRCh37: Chr2:74185314 GRCh38: Chr2:73958187	DGUOK, DGUOK-AS1	L250S, L156S, L147S, L153S, L162S	See cases, not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 48849016.	NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) GRCh37: Chr2:74166049 GRCh38: Chr2:73938922	DGUOK	S52F	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Nov 8, 2017)	criteria provided, conflicting interpretations
Select item 42075117.	NM_080916.3(DGUOK):c.152A>G (p.Lys51Arg) GRCh37: Chr2:74166046 GRCh38: Chr2:73938919	DGUOK	K51R	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), not provided	Uncertain significance (Mar 21, 2016)	criteria provided, multiple submitters, no conflicts
Select item 33705218.	NM_080916.3(DGUOK):c.*120G>A GRCh37: Chr2:74185983 GRCh38: Chr2:73958856	DGUOK, DGUOK-AS1		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33705019.	NM_080916.3(DGUOK):c.705G>A (p.Thr235=) GRCh37: Chr2:74184365 GRCh38: Chr2:73957238	DGUOK		not specified, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Mar 8, 2018)	criteria provided, conflicting interpretations
Select item 33704920.	NM_080916.3(DGUOK):c.664C>T (p.Leu222=) GRCh37: Chr2:74184324 GRCh38: Chr2:73957197	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 33704721.	NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe) GRCh37: Chr2:74177836 GRCh38: Chr2:73950709	DGUOK	I190F, I87F, I93F	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33704622.	NM_080916.3(DGUOK):c.366G>C (p.Gln122His) GRCh37: Chr2:74173956 GRCh38: Chr2:73946829	DGUOK	Q122H, Q25H	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 33704523.	NM_080916.3(DGUOK):c.142+1G>T GRCh37: Chr2:74154180 GRCh38: Chr2:73927053	DGUOK, LOC129934096		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 33704424.	NM_080916.3(DGUOK):c.-1G>A GRCh37: Chr2:74154037 GRCh38: Chr2:73926910	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Jan 19, 2021)	criteria provided, conflicting interpretations
Select item 33704325.	NM_080916.3(DGUOK):c.-8T>C GRCh37: Chr2:74154030 GRCh38: Chr2:73926903	DGUOK		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33704226.	NM_080916.3(DGUOK):c.-21G>T GRCh37: Chr2:74154017 GRCh38: Chr2:73926890	DGUOK		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 28987227.	NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) GRCh37: Chr2:74173927 GRCh38: Chr2:73946800	DGUOK	F113L, F16L	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), not provided	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25306328.	NM_080916.3(DGUOK):c.797T>G (p.Leu266Arg) GRCh37: Chr2:74185362 GRCh38: Chr2:73958235	DGUOK, DGUOK-AS1	L266R, L163R, L178R, L169R, L172R	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic (Mar 1, 2007)	no assertion criteria provided
Select item 25306229.	NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) GRCh37: Chr2:74154174 GRCh38: Chr2:73927047	DGUOK, LOC129934096	N46S	not provided	Pathogenic/Likely pathogenic (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21428830.	NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) GRCh37: Chr2:74184262-74184263 GRCh38: Chr2:73957135-73957136	DGUOK	R105fs, R99fs, R202fs	not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic (Jul 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 21428631.	NM_080916.3(DGUOK):c.591G>A (p.Gln197=) GRCh37: Chr2:74177859 GRCh38: Chr2:73950732	DGUOK		Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension, noncirrhotic, Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, not provided, DGUOK-Related Disorders, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic (Sep 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 21428532.	NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) GRCh37: Chr2:74177730 GRCh38: Chr2:73950603	DGUOK	N154K, N57K, N51K	Inborn genetic diseases, not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Jul 7, 2023)	criteria provided, conflicting interpretations
Select item 21428333.	NM_080916.3(DGUOK):c.123C>G (p.Leu41=) GRCh37: Chr2:74154160 GRCh38: Chr2:73927033	DGUOK, LOC129934096		not specified, not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21427934.	NM_080916.3(DGUOK):c.708-3T>C GRCh37: Chr2:74185270 GRCh38: Chr2:73958143	DGUOK, DGUOK-AS1		not provided, Inborn genetic diseases, not specified, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 20875235.	NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) GRCh37: Chr2:74166105 GRCh38: Chr2:73938978	DGUOK	P71A	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), not provided, Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension, noncirrhotic, 1, Inborn genetic diseases, not specified	Uncertain significance (Jun 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 19786736.	NM_080916.3(DGUOK):c.630G>A (p.Glu210=) GRCh37: Chr2:74184290 GRCh38: Chr2:73957163	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 19348237.	NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) GRCh37: Chr2:74154041 GRCh38: Chr2:73926914	DGUOK, LOC129934096	A2S	not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 13708338.	NM_080916.3(DGUOK):c.*13A>T GRCh37: Chr2:74185876 GRCh38: Chr2:73958749	DGUOK-AS1, DGUOK		Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, Portal hypertension, noncirrhotic, not specified, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13708239.	NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) GRCh37: Chr2:74177777 GRCh38: Chr2:73950650	DGUOK	Q170R, Q67R, Q73R	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, Portal hypertension, noncirrhotic, 1, not specified, not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Benign/Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13708140.	NM_080916.3(DGUOK):c.423G>A (p.Glu141=) GRCh37: Chr2:74174013 GRCh38: Chr2:73946886	DGUOK		not specified, not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13708041.	NM_080916.3(DGUOK):c.159G>A (p.Thr53=) GRCh37: Chr2:74166053 GRCh38: Chr2:73938926	DGUOK		not specified, not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13565242.	NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) GRCh37: Chr2:74173877 GRCh38: Chr2:73946750	DGUOK	L96P	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Likely pathogenic (Dec 27, 2012)	no assertion criteria provided
Select item 815943.	NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr) GRCh37: Chr2:74185328 GRCh38: Chr2:73958201	DGUOK, DGUOK-AS1	D255Y, D161Y, D152Y, D158Y, D167Y	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic (Jun 15, 2005)	no assertion criteria provided
Select item 815844.	NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys) GRCh37: Chr2:74184339 GRCh38: Chr2:73957212	DGUOK	E227K, E124K, E130K	Inborn genetic diseases, not provided	Pathogenic (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 815745.	NM_080916.3(DGUOK):c.425G>A (p.Arg142Lys) GRCh37: Chr2:74174015 GRCh38: Chr2:73946888	DGUOK	R142K, R45K	not provided	Pathogenic (Dec 16, 2019)	criteria provided, single submitter
Select item 815646.	NM_080916.3(DGUOK):c.609_610del (p.Tyr204fs) GRCh37: Chr2:74184268-74184269 GRCh38: Chr2:73957141-73957142	DGUOK	Y204fs, Y107fs, Y101fs	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic (Sep 1, 2002)	no assertion criteria provided
Select item 815547.	NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) GRCh37: Chr2:74185326-74185327 GRCh38: Chr2:73958199-73958200	DGUOK, DGUOK-AS1	F162, F168, F153, F159, F256*	DGUOK-Related Disorders, not provided, Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Pathogenic (Jul 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 815448.	NM_080916.3(DGUOK):c.313C>T (p.Arg105Ter) GRCh37: Chr2:74173903 GRCh38: Chr2:73946776	DGUOK	R105, R8	not provided	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 815349.	NM_080916.3(DGUOK):c.255del (p.Ala86fs) GRCh37: Chr2:74166145 GRCh38: Chr2:73939018	DGUOK	A86fs	not provided	Pathogenic (Nov 1, 2016)	criteria provided, single submitter

ClinVar

Result Filters

Clinical significance

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 49