ClinVar for MedGen (Select 1682503) - ClinVar

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Items: 48

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 13192341.	NM_080916.3(DGUOK):c.199G>A (p.Val67Ile) GRCh37: Chr2:74166093 GRCh38: Chr2:73938966	DGUOK	V67I	Mitochondrial DNA depletion syndrome 3, not provided	Uncertain significance (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10285422.	NM_080916.3(DGUOK):c.13C>T (p.Arg5Cys) GRCh37: Chr2:74154050 GRCh38: Chr2:73926923	DGUOK	R5C	Inborn genetic diseases, Mitochondrial DNA depletion syndrome 3	Uncertain significance (Mar 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8972053.	NM_080916.3(DGUOK):c.*119C>T GRCh37: Chr2:74185982 GRCh38: Chr2:73958855	DGUOK, DGUOK-AS1		Mitochondrial DNA depletion syndrome 3	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 8972044.	NM_080916.3(DGUOK):c.*7C>T GRCh37: Chr2:74185870 GRCh38: Chr2:73958743	DGUOK-AS1, DGUOK		Mitochondrial DNA depletion syndrome 3	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 8972035.	NM_080916.3(DGUOK):c.684C>G (p.Ala228=) GRCh37: Chr2:74184344 GRCh38: Chr2:73957217	DGUOK		Mitochondrial DNA depletion syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8967326.	NM_080916.3(DGUOK):c.655C>T (p.Leu219=) GRCh37: Chr2:74184315 GRCh38: Chr2:73957188	DGUOK		Mitochondrial DNA depletion syndrome 3, not provided	Conflicting interpretations of pathogenicity (Jul 25, 2022)	criteria provided, conflicting interpretations
Select item 8953117.	NM_080916.3(DGUOK):c.265G>A (p.Ala89Thr) GRCh37: Chr2:74173855 GRCh38: Chr2:73946728	DGUOK	A89T	not provided, Mitochondrial DNA depletion syndrome 3	Uncertain significance (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 8953108.	NM_080916.3(DGUOK):c.9G>T (p.Ala3=) GRCh37: Chr2:74154046 GRCh38: Chr2:73926919	DGUOK		Mitochondrial DNA depletion syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8717639.	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	Pathogenic (Oct 4, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80172510.	NM_080916.3(DGUOK):c.707+2T>G GRCh37: Chr2:74184369 GRCh38: Chr2:73957242	DGUOK		Mitochondrial DNA depletion syndrome 3	Likely pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 55936811.	NM_080916.3(DGUOK):c.492C>T (p.Ile164=) GRCh37: Chr2:74177760 GRCh38: Chr2:73950633	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3	Conflicting interpretations of pathogenicity (May 12, 2022)	criteria provided, conflicting interpretations
Select item 52355412.	NM_080916.3(DGUOK):c.65C>T (p.Pro22Leu) GRCh37: Chr2:74154102 GRCh38: Chr2:73926975	DGUOK	P22L	Mitochondrial DNA depletion syndrome 3, not provided, Hypoplasia of the corpus callosum, Memory impairment, Cerebral atrophy, Cognitive impairment, Increased CSF lactate, Migraine with aura, Increased serum pyruvate	Uncertain significance (Jun 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52355313.	NM_080916.3(DGUOK):c.278G>A (p.Gly93Glu) GRCh37: Chr2:74173868 GRCh38: Chr2:73946741	DGUOK	G93E	Mitochondrial DNA depletion syndrome 3, Memory impairment, Cerebral atrophy, Hypoplasia of the corpus callosum, Cognitive impairment, Increased serum pyruvate, Increased CSF lactate, Migraine with aura	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter
Select item 48849114.	NM_080916.3(DGUOK):c.749T>C (p.Leu250Ser) GRCh37: Chr2:74185314 GRCh38: Chr2:73958187	DGUOK, DGUOK-AS1	L250S, L156S, L147S, L153S, L162S	not provided, Mitochondrial DNA depletion syndrome 3, See cases	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 48849015.	NM_080916.3(DGUOK):c.155C>T (p.Ser52Phe) GRCh37: Chr2:74166049 GRCh38: Chr2:73938922	DGUOK	S52F	Mitochondrial DNA depletion syndrome 3	Conflicting interpretations of pathogenicity (Nov 8, 2017)	criteria provided, conflicting interpretations
Select item 42075116.	NM_080916.3(DGUOK):c.152A>G (p.Lys51Arg) GRCh37: Chr2:74166046 GRCh38: Chr2:73938919	DGUOK	K51R	not provided, Mitochondrial DNA depletion syndrome 3	Uncertain significance (Mar 21, 2016)	criteria provided, multiple submitters, no conflicts
Select item 33705217.	NM_080916.3(DGUOK):c.*120G>A GRCh37: Chr2:74185983 GRCh38: Chr2:73958856	DGUOK, DGUOK-AS1		Mitochondrial DNA depletion syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33705018.	NM_080916.3(DGUOK):c.705G>A (p.Thr235=) GRCh37: Chr2:74184365 GRCh38: Chr2:73957238	DGUOK		Mitochondrial DNA depletion syndrome 3, not specified	Conflicting interpretations of pathogenicity (Mar 8, 2018)	criteria provided, conflicting interpretations
Select item 33704919.	NM_080916.3(DGUOK):c.664C>T (p.Leu222=) GRCh37: Chr2:74184324 GRCh38: Chr2:73957197	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 33704720.	NM_080916.3(DGUOK):c.568A>T (p.Ile190Phe) GRCh37: Chr2:74177836 GRCh38: Chr2:73950709	DGUOK	I190F, I87F, I93F	Mitochondrial DNA depletion syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33704621.	NM_080916.3(DGUOK):c.366G>C (p.Gln122His) GRCh37: Chr2:74173956 GRCh38: Chr2:73946829	DGUOK	Q122H, Q25H	Mitochondrial DNA depletion syndrome 3, not provided	Conflicting interpretations of pathogenicity (Oct 5, 2022)	criteria provided, conflicting interpretations
Select item 33704522.	NM_080916.3(DGUOK):c.142+1G>T GRCh37: Chr2:74154180 GRCh38: Chr2:73927053	DGUOK		Mitochondrial DNA depletion syndrome 3	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 33704423.	NM_080916.3(DGUOK):c.-1G>A GRCh37: Chr2:74154037 GRCh38: Chr2:73926910	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3	Conflicting interpretations of pathogenicity (Jan 19, 2021)	criteria provided, conflicting interpretations
Select item 33704324.	NM_080916.3(DGUOK):c.-8T>C GRCh37: Chr2:74154030 GRCh38: Chr2:73926903	DGUOK		Mitochondrial DNA depletion syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 33704225.	NM_080916.3(DGUOK):c.-21G>T GRCh37: Chr2:74154017 GRCh38: Chr2:73926890	DGUOK		Mitochondrial DNA depletion syndrome 3	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 28987226.	NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) GRCh37: Chr2:74173927 GRCh38: Chr2:73946800	DGUOK	F113L, F16L	not provided, Mitochondrial DNA depletion syndrome 3	Uncertain significance (Oct 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25306327.	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	Pathogenic (Mar 1, 2007)	no assertion criteria provided
Select item 25306228.	NM_080916.3(DGUOK):c.137A>G (p.Asn46Ser) GRCh37: Chr2:74154174 GRCh38: Chr2:73927047	DGUOK	N46S	not provided	Pathogenic/Likely pathogenic (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21428829.	NM_080916.3(DGUOK):c.605_606del (p.Arg202fs) GRCh37: Chr2:74184262-74184263 GRCh38: Chr2:73957135-73957136	DGUOK	R105fs, R99fs, R202fs	Mitochondrial DNA depletion syndrome 3, not provided	Pathogenic (Jul 1, 2019)	criteria provided, multiple submitters, no conflicts
Select item 21428630.	NM_080916.3(DGUOK):c.591G>A (p.Gln197=) GRCh37: Chr2:74177859 GRCh38: Chr2:73950732	DGUOK		Mitochondrial DNA depletion syndrome 3, Portal hypertension, noncirrhotic, Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, not provided	Pathogenic (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21428331.	NM_080916.3(DGUOK):c.123C>G (p.Leu41=) GRCh37: Chr2:74154160 GRCh38: Chr2:73927033	DGUOK		Mitochondrial DNA depletion syndrome 3, not specified, not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21427932.	NM_080916.3(DGUOK):c.708-3T>C GRCh37: Chr2:74185270 GRCh38: Chr2:73958143	DGUOK-AS1, DGUOK		Inborn genetic diseases, Mitochondrial DNA depletion syndrome 3, not specified, not provided	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 20875233.	NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) GRCh37: Chr2:74166105 GRCh38: Chr2:73938978	DGUOK	P71A	not provided, Inborn genetic diseases, not specified, Portal hypertension, noncirrhotic, 1, Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency, Mitochondrial DNA depletion syndrome 3, Mitochondrial DNA depletion syndrome 3	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19786734.	NM_080916.3(DGUOK):c.630G>A (p.Glu210=) GRCh37: Chr2:74184290 GRCh38: Chr2:73957163	DGUOK		not provided, Mitochondrial DNA depletion syndrome 3	Conflicting interpretations of pathogenicity (Oct 25, 2022)	criteria provided, conflicting interpretations
Select item 19348235.	NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) GRCh37: Chr2:74154041 GRCh38: Chr2:73926914	DGUOK	A2S	not provided, Mitochondrial DNA depletion syndrome 3	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 13708336.	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	Benign (Jul 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 13708237.	NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) GRCh37: Chr2:74177777 GRCh38: Chr2:73950650	DGUOK	Q170R, Q67R, Q73R	not specified, not provided, Mitochondrial DNA depletion syndrome 3, Portal hypertension, noncirrhotic, 1, Mitochondrial DNA depletion syndrome 3, Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13708138.	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	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13708039.	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	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13565240.	NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro) GRCh37: Chr2:74173877 GRCh38: Chr2:73946750	DGUOK	L96P	Mitochondrial DNA depletion syndrome 3	Likely pathogenic (Dec 27, 2012)	no assertion criteria provided
Select item 815941.	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	Pathogenic (Jun 15, 2005)	no assertion criteria provided
Select item 815842.	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 815743.	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 815644.	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	Pathogenic (Sep 1, 2002)	no assertion criteria provided
Select item 815545.	NM_080916.3(DGUOK):c.763_766dup (p.Phe256Ter) GRCh37: Chr2:74185326-74185327 GRCh38: Chr2:73958199-73958200	DGUOK-AS1, DGUOK	F162, F168, F153, F159, F256*	Combined oxidative phosphorylation defect type 20, not provided	Pathogenic (Aug 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 815446.	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 815347.	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
Select item 462648.	NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) GRCh37: Chr10:102749527 GRCh38: Chr10:100989770	TWNK	T457I, T3I	Infantile onset spinocerebellar ataxia	Pathogenic (Dec 1, 2007)	no assertion criteria provided

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Items: 48