MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:8115
Name:Mitochondrial neurogastrointestinal encephalopathy syndrome
Definition:
Alternative IDs:OMIM:612075
ParentIDs:MESH:D007418|MESH:D017237
TreeNumbers:C05.651.460.620/C537477 |C06.405.469.531.492.500/C537477 |C10.228.140.163.540/C537477 |C10.668.491.500.500/C537477 |C18.452.132.540/C537477 |C18.452.660.560.620/C537477
Synonyms:Mitochondrial DNA Depletion Syndrome 1 |Mitochondrial DNA Depletion Syndrome 8A |MITOCHONDRIAL DNA DEPLETION SYNDROME 8A (ENCEPHALOMYOPATHIC TYPE WITH RENAL TUBULOPATHY) |Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Renal Tubulopathy,
Slim Mappings:Digestive system disease|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C537477
MeSH: C537477
OMIM: 612075;
MSeqDR LSDB: 00037;
MSeqDR has 2 matches in descendants: 00026; 00033;  
Genes: RRM2B; SHOC2;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0003355Aminoaciduria
3 HP:0004326Cachexia
NAMDC:  Cachexia
4 HP:0000544External ophthalmoplegia
5 HP:0001508Failure to thrive
6 HP:0011968Feeding difficulties
7 HP:0002066Gait ataxia
8 HP:0001290Generalized hypotonia
9 HP:0001249Intellectual disability
10 HP:0003128Lactic acidosis
11 HP:0003676Progressive
12 HP:0002344Progressive neurologic deterioration
13 HP:0000114Proximal tubulopathy
14 HP:0001250Seizures
NAMDC:  Seizures
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001172477.1(RRM2B):c.*3593G>A50484RRM2BBenignrs29000294RCV000350970|RCV000407265; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103216768103216768CT8:g.103216768C>TClinGen:CA10626613C0342782 Mitochondrial DNA depletion syndrome;
NM_015713.5(RRM2B):c.*3577G>T50484RRM2BUncertain significance-1RCV001160868|RCV001162480; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103216784103216784CA8:g.103216784C>A-
NM_001172477.1(RRM2B):c.*3555T>C50484RRM2BBenignrs29000293RCV000306531|RCV000363580; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103216806103216806AG8:g.103216806A>GClinGen:CA10629739C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*3527G>A50484RRM2BBenignrs1052071RCV000310173|RCV000403198; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103216834103216834CT8:g.103216834C>TClinGen:CA10626614C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*3489A>G50484RRM2BBenign/Likely benignrs540839717RCV000265672|RCV000358061; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103216872103216872TC8:g.103216872T>CClinGen:CA10624452C0342782 Mitochondrial DNA depletion syndrome;
NM_015713.5(RRM2B):c.*3473A>G50484RRM2BUncertain significance-1RCV001162481|RCV001164525; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103216888103216888TC8:g.103216888T>C-
NM_001172477.1(RRM2B):c.*3463C>T50484RRM2BBenignrs1052069RCV000322598|RCV000361015; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103216898103216898GA8:g.103216898G>AClinGen:CA10629701C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*3395C>G50484RRM2BBenignrs11575866RCV000259680|RCV000317232; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103216966103216966GC8:g.103216966G>CClinGen:CA10626630C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*3289A>G50484RRM2BUncertain significancers569359604RCV000263156|RCV000374148; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217072103217072TC8:g.103217072T>CClinGen:CA10624457C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*3266G>T50484RRM2BUncertain significancers746260787RCV000329917|RCV000386782; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217095103217095CA8:g.103217095C>AClinGen:CA10629704C0342782 Mitochondrial DNA depletion syndrome;
NM_015713.5(RRM2B):c.*3250G>C50484RRM2BUncertain significance-1RCV001159596|RCV001159597; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217111103217111CG8:g.103217111C>G-
NM_001172477.1(RRM2B):c.*3125T>C50484RRM2BUncertain significancers886062560RCV000295283|RCV000352454; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217236103217236AG8:g.103217236A>GClinGen:CA10626632C0342782 Mitochondrial DNA depletion syndrome;
NM_015713.5(RRM2B):c.*3118T>G50484RRM2BUncertain significance-1RCV001159598|RCV001159599; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217243103217243AC8:g.103217243A>C-
NM_001172477.1(RRM2B):c.*3078G>T50484RRM2BConflicting interpretations of pathogenicityrs113860402RCV000289425|RCV000381514; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217283103217283CA8:g.103217283C>AClinGen:CA10626634
NM_015713.5(RRM2B):c.*2995A>T50484RRM2BUncertain significance-1RCV001160981|RCV001160982; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217366103217366TA8:g.103217366T>A-
NM_015713.5(RRM2B):c.*2991C>T50484RRM2BUncertain significance-1RCV001160983|RCV001160984; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217370103217370GA8:g.103217370G>A-
NM_001172477.1(RRM2B):c.*2978A>G50484RRM2BUncertain significancers761021253RCV000302336|RCV000340800; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217383103217383TC8:g.103217383T>CClinGen:CA10629709
NM_001172477.1(RRM2B):c.*2960G>A50484RRM2BUncertain significancers886062561RCV000306068|RCV000405315; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217401103217401CT8:g.103217401C>TClinGen:CA10626637
NM_015713.5(RRM2B):c.*2885A>G50484RRM2BUncertain significance-1RCV001162574|RCV001162575; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217476103217476TC8:g.103217476T>C-
NM_001172477.1(RRM2B):c.*2879A>G50484RRM2BBenignrs3204695RCV000261329|RCV000353771; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217482103217482TC8:g.103217482T>CClinGen:CA10629711
NM_001172477.1(RRM2B):c.*2822A>T50484RRM2BConflicting interpretations of pathogenicityrs189278573RCV000300250|RCV000357451; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217539103217539TA8:g.103217539T>AClinGen:CA10624458
NM_001172477.1(RRM2B):c.*2809G>A50484RRM2BUncertain significancers886062562RCV000274430|RCV000331912; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217552103217552CT8:g.103217552C>TClinGen:CA10629741
NM_015713.5(RRM2B):c.*2728G>A50484RRM2BUncertain significance-1RCV001164623|RCV001164624; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217633103217633CT8:g.103217633C>T-
NM_001172477.1(RRM2B):c.*2722A>G50484RRM2BUncertain significancers543127762RCV000277984|RCV000388819; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217639103217639TC8:g.103217639T>CClinGen:CA10629748
NM_001172477.1(RRM2B):c.*2675A>G50484RRM2BBenignrs3735720RCV000333006|RCV000387453; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103217686103217686TC8:g.103217686T>CClinGen:CA10626640
NM_001172477.1(RRM2B):c.*2666T>C50484RRM2BBenignrs3735721RCV000293107|RCV000338762; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217695103217695AG8:g.103217695A>GClinGen:CA10626644
NM_001172477.1(RRM2B):c.*2513T>C50484RRM2BUncertain significancers866323859RCV000335046|RCV000392098; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217848103217848AG8:g.103217848A>GClinGen:CA10629712
NM_001172477.1(RRM2B):c.*2410C>A50484RRM2BUncertain significancers767476703RCV000310542|RCV000392097; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103217951103217951GT8:g.103217951G>TClinGen:CA10624462
NM_001172477.1(RRM2B):c.*2236A>T50484RRM2BBenign/Likely benignrs566194929RCV000306610|RCV000370634; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218125103218125TA8:g.103218125T>AClinGen:CA10626649
NM_001172477.1(RRM2B):c.*2136G>A50484RRM2BBenignrs139212686RCV000263215|RCV000367246; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218225103218225CT8:g.103218225C>TClinGen:CA10629750
NM_001172477.1(RRM2B):c.*2097T>A50484RRM2BBenignrs116394626RCV000318450|RCV000373132; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218264103218264AT8:g.103218264A>TClinGen:CA10629713
NM_001172477.1(RRM2B):c.*2035A>G50484RRM2BBenignrs1055958RCV000278597|RCV000324277; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218326103218326TC8:g.103218326T>CClinGen:CA10629714
NM_001172477.1(RRM2B):c.*1953A>G50484RRM2BBenignrs11987823RCV000284394|RCV000378840; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103218408103218408TC8:g.103218408T>CClinGen:CA10626650
NM_015713.5(RRM2B):c.*1867C>T50484RRM2BBenign/Likely benign-1RCV001161116|RCV001162676; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218494103218494GA8:g.103218494G>A-
NM_001172477.1(RRM2B):c.*1717T>A50484RRM2BUncertain significancers886062566RCV000290176|RCV000345118; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218644103218644AT8:g.103218644A>TClinGen:CA10624470
NM_001172477.1(RRM2B):c.*1673T>G50484RRM2BBenignrs16918482RCV000314018|RCV000407297; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103218688103218688AC8:g.103218688A>CClinGen:CA10626653
NM_015713.5(RRM2B):c.*1664T>A50484RRM2BUncertain significance-1RCV001162677|RCV001162678; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218697103218697AT8:g.103218697A>T-
NM_001172477.1(RRM2B):c.*1601A>G50484RRM2BBenignrs140164634RCV000368734|RCV000402719; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218760103218760TC8:g.103218760T>CClinGen:CA10624471
NM_001172477.1(RRM2B):c.*1596T>C50484RRM2BBenign/Likely benignrs182874090RCV000301211|RCV000355971; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218765103218765AG8:g.103218765A>GClinGen:CA10624472
NM_015713.5(RRM2B):c.*1552T>C50484RRM2BUncertain significance-1RCV001164730|RCV001164731; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218809103218809AG8:g.103218809A>G-
NM_015713.5(RRM2B):c.*1522A>G50484RRM2BUncertain significance-1RCV001164732|RCV001164733; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103218839103218839TC8:g.103218839T>C-
NM_015713.5(RRM2B):c.*1510T>C50484RRM2BUncertain significance-1RCV001159814|RCV001164734; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103218851103218851AG8:g.103218851A>G-
NM_001172477.1(RRM2B):c.*1488G>C50484RRM2BBenignrs1265116RCV000261106|RCV000316397; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103218873103218873CG8:g.103218873C>GClinGen:CA10629715
NM_015713.5(RRM2B):c.*1451A>C50484RRM2BUncertain significance-1RCV001159815|RCV001159816; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103218910103218910TG8:g.103218910T>G-
NM_001172477.1(RRM2B):c.*1351T>C50484RRM2BBenign/Likely benignrs114108597RCV000267171|RCV000361909; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103219010103219010AG8:g.103219010A>GClinGen:CA10629751
NM_015713.5(RRM2B):c.*1337G>C50484RRM2BUncertain significance-1RCV001159817|RCV001161217; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103219024103219024CG8:g.103219024C>G-
NM_001172477.1(RRM2B):c.*1277A>T50484RRM2BBenignrs5005121RCV000322411|RCV000377010; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103219084103219084TA8:g.103219084T>AClinGen:CA10626656
NM_001172477.1(RRM2B):c.*1121T>C50484RRM2BBenignrs4102401RCV000292054|RCV000328327; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103219240103219240AG8:g.103219240A>GClinGen:CA10626657
NM_001172477.1(RRM2B):c.*998A>G50484RRM2BBenignrs3907099RCV000287447|RCV000382949; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103219363103219363TC8:g.103219363T>CClinGen:CA10626660
NM_015713.5(RRM2B):c.*895G>A50484RRM2BUncertain significance-1RCV001161218|RCV001162771; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103219466103219466CT8:g.103219466C>T-
NM_001172477.1(RRM2B):c.*869G>T50484RRM2BUncertain significancers771055735RCV000352861|RCV000400144; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103219492103219492CA8:g.103219492C>AClinGen:CA10624475C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*866T>G50484RRM2BBenignrs29000286RCV000294321|RCV000349286; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103219495103219495AC8:g.103219495A>CClinGen:CA10629716C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*855C>G50484RRM2BUncertain significancers886062567RCV000300089|RCV000392022; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103219506103219506GC8:g.103219506G>CClinGen:CA10629753C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*817G>A50484RRM2BConflicting interpretations of pathogenicityrs190474682RCV000355046|RCV000406402; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103219544103219544CT8:g.103219544C>TClinGen:CA10626671C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*788T>C50484RRM2BUncertain significancers559700946RCV000305796|RCV000360587; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103219573103219573AG8:g.103219573A>GClinGen:CA10624476C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*732A>G50484RRM2BBenignrs16869269RCV000265755|RCV000302129; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103219629103219629TC8:g.103219629T>CClinGen:CA10626672C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*552G>A50484RRM2BUncertain significancers375924434RCV000271843|RCV000366416; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103219809103219809CT8:g.103219809C>TClinGen:CA10626673C0342782 Mitochondrial DNA depletion syndrome;
NM_015713.5(RRM2B):c.*485A>C50484RRM2BUncertain significance-1RCV001159933|RCV001164840; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103219876103219876TG8:g.103219876T>G-
NM_015713.5(RRM2B):c.*436A>G50484RRM2BUncertain significance-1RCV001159934|RCV001159935; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103219925103219925TC8:g.103219925T>C-
NM_001172477.1(RRM2B):c.*328G>A50484RRM2BUncertain significancers142449540RCV000326807|RCV000381465; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103220033103220033CT8:g.103220033C>TClinGen:CA10629717C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*247G>A50484RRM2BUncertain significancers886062568RCV000276022|RCV000331081; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103220114103220114CT8:g.103220114C>TClinGen:CA10629754C0342782 Mitochondrial DNA depletion syndrome;
NM_015713.5(RRM2B):c.*190T>C50484RRM2BBenign/Likely benign-1RCV001159936|RCV001161333; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103220171103220171AG8:g.103220171A>G-
NM_001172477.1(RRM2B):c.*73A>T50484RRM2BUncertain significancers886062570RCV000337064|RCV000373054; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103220288103220288TA8:g.103220288T>AClinGen:CA10626677C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.*11G>A50484RRM2BConflicting interpretations of pathogenicityrs29000285RCV000278088|RCV000342400|RCV000424236; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN1693748103220350103220350CT8:g.103220350C>TClinGen:CA4830952C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.1129G>T (p.Ala377Ser)50484RRM2BConflicting interpretations of pathogenicityrs201440849RCV000303281|RCV000392494; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103220504103220504CA8:g.103220504C>AClinGen:CA4830963C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.1066C>T (p.Gln356Ter)50484RRM2BPathogenicrs121918307RCV000005717|RCV000119010; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN1875028103225057103225057GA8:g.103225057G>AClinGen:CA117474,OMIM:604712.0001C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_001172477.1(RRM2B):c.1006-8C>A50484RRM2BBenignrs376542259RCV000127808|RCV000339380|RCV000392490|RCV000973700; NMedGen:CN169374|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN5172028103225125103225125GT8:g.103225125G>TClinGen:CA293110C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.1006-9T>C50484RRM2BConflicting interpretations of pathogenicityrs573435546RCV000308909|RCV000363537; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103225126103225126AG8:g.103225126A>GClinGen:CA4830991C0342782 Mitochondrial DNA depletion syndrome;
NM_001172477.1(RRM2B):c.972G>A (p.Arg324=)50484RRM2BConflicting interpretations of pathogenicityrs377736828RCV000269016|RCV000314816; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103226315103226315CT8:g.103226315C>TClinGen:CA4831008
NM_001172477.1(RRM2B):c.923G>T (p.Cys308Phe)50484RRM2BPathogenicrs121918309RCV000005721|RCV000119007; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN1875028103226364103226364CA8:g.103226364C>AClinGen:CA117483,UniProtKB:Q7LG56#VAR_046222,OMIM:604712.0005C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_001172477.1(RRM2B):c.902G>T (p.Gly301Val)50484RRM2BPathogenicrs121918311RCV000005723|RCV000119005; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN1875028103226385103226385CA8:g.103226385C>AClinGen:CA117492,OMIM:604712.0007C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_001172477.1(RRM2B):c.887T>G (p.Ile296Ser)50484RRM2BPathogenic/Likely pathogenicrs515726196RCV000119006|RCV000199478|RCV000659254; NMedGen:CN187502|MedGen:CN517202|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103231055103231055AC8:g.103231055A>CClinGen:CA324021,UniProtKB:Q7LG56#VAR_046221C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser)50484RRM2BConflicting interpretations of pathogenicityrs863224193RCV000196496|RCV000680084|RCV000714482; NMedGen:CN517202|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|Human Phenotype Ontology:HP:0004900,MedGen:C18394368103231064103231064TC8:g.103231064T>CClinGen:CA320911,OMIM:604712.0015C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_001172477.1(RRM2B):c.851_852insAAG (p.Leu285_Met286insSer)50484RRM2BLikely pathogenicrs863224914RCV000198969; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103231090103231091AACTT8:g.103231090_103231091insCTTClinGen:CA279000C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_001172477.1(RRM2B):c.796G>A (p.Glu266Lys)50484RRM2BPathogenicrs121918308RCV000005719|RCV000118999; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN1875028103231146103231146CT8:g.103231146C>TClinGen:CA117479,UniProtKB:Q7LG56#VAR_046220,OMIM:604712.0003C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_001172477.1(RRM2B):c.760A>G (p.Thr254Ala)50484RRM2BConflicting interpretations of pathogenicityrs147315735RCV000199003|RCV001164963|RCV001164964; NMedGen:CN169374|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103236280103236280TC8:g.103236280T>CClinGen:CA323548CN169374 not specified;
NM_001172477.1(RRM2B):c.756A>G (p.Lys252=)50484RRM2BConflicting interpretations of pathogenicityrs200301242RCV000275167|RCV000369842|RCV000439189|RCV000963226; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN169374|MedGen:CN5172028103236284103236284TC8:g.103236284T>CClinGen:CA4831078
NM_015713.5(RRM2B):c.527_528insG (p.Ile176fs)50484RRM2BPathogenicrs1587178460RCV001030033; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103236296103236297TTC8:g.103236296_103236297insC-
NM_001172477.1(RRM2B):c.719A>G (p.Lys240Arg)50484RRM2BUncertain significancers886062571RCV000330234|RCV000375476; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103236321103236321TC8:g.103236321T>CClinGen:CA10629724
NM_001172477.1(RRM2B):c.538-2A>G50484RRM2BPathogenicrs515726185RCV000005718|RCV000118990; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN1875028103237248103237248TC8:g.103237248T>CClinGen:CA212830,OMIM:604712.0002C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_001172477.1(RRM2B):c.423C>T (p.Val141=)50484RRM2BBenignrs28999710RCV000127807|RCV000262392|RCV000317640|RCV000677047; NMedGen:CN169374|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN5172028103238260103238260GA8:g.103238260G>AClinGen:CA293105C0342782 Mitochondrial DNA depletion syndrome;
NM_015713.5(RRM2B):c.204+5G>A50484RRM2BLikely pathogenic-1RCV001261651; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103244372103244372CT8:g.103244372C>T-
NM_015713.5(RRM2B):c.162A>G (p.Lys54=)50484RRM2BUncertain significance-1RCV001160043|RCV001160044; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103244419103244419TC8:g.103244419T>C-
NM_015713.5(RRM2B):c.128T>A (p.Val43Asp)50484RRM2BLikely pathogenicrs1587186073RCV001030034; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103244453103244453AT8:g.103244453A>T-
NM_001172477.1(RRM2B):c.337C>T (p.Arg113Trp)50484RRM2BPathogenicrs515726181RCV000118983|RCV000659255; NMedGen:CN187502|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103244460103244460GA8:g.103244460G>AClinGen:CA345546C2749861 612075 Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy;
NM_001172477.1(RRM2B):c.334C>T (p.Arg112Cys)50484RRM2BLikely pathogenicrs776184830RCV000198415|RCV001089490; NMedGen:CN517202|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103244463103244463GA8:g.103244463G>AClinGen:CA322917CN517202 not provided;
NM_001172477.1(RRM2B):c.-5G>A50484RRM2BPathogenicrs515726180RCV000118982|RCV000508788|RCV001089491; NMedGen:CN187502|MONDO:MONDO:0044970,MedGen:C0751651, Orphanet:68380|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103251055103251055CT8:g.103251055C>TClinGen:CA345542C0751651 Mitochondrial diseases;
NM_015713.4(RRM2B):c.1A>G (p.Met1Val)50484RRM2BLikely pathogenicrs772913758RCV000493307|RCV001261650; NMedGen:CN517202|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103251102103251102TC8:g.103251102T>CClinGen:CA4831287CN517202 not provided;
NM_015713.5(RRM2B):c.-1G>C50484RRM2BUncertain significance-1RCV001160045|RCV001160046; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103251103103251103CG8:g.103251103C>G-
NM_015713.4(RRM2B):c.-88C>A50484RRM2BBenignrs72554091RCV000287075|RCV000372168; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103251190103251190GT8:g.103251190G>TClinGen:CA10626678
NC_000008.11:g.102238975C>T50484RRM2BConflicting interpretations of pathogenicity-1RCV001160047|RCV001161455; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103251203103251203CT8:g.103251203C>T-
NM_015713.4(RRM2B):c.-103G>A50484RRM2BBenignrs7844478RCV000342167|RCV000378112; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103251205103251205CT8:g.103251205C>TClinGen:CA10629725
NM_015713.4(RRM2B):c.-153G>T50484RRM2BBenign/Likely benignrs2290707RCV000283694|RCV000348081|RCV000832907; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MedGen:CN5172028103251255103251255CA8:g.103251255C>AClinGen:CA10626684
NM_015713.4(RRM2B):c.-157G>A50484RRM2BBenignrs28927991RCV000306315|RCV000393138; NMONDO:MONDO:0013117,MedGen:C2751319,OMIM:613077|MONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:2552358103251259103251259CT8:g.103251259C>TClinGen:CA10629726
NC_000008.11:g.102239067C>G50484RRM2BUncertain significance-1RCV001161456|RCV001162988; NMONDO:MONDO:0012792,MedGen:C2749861,OMIM:612075, Orphanet:255235|MONDO:MONDO:0013117,MedGen:C2751319,OMIM:6130778103251295103251295CG8:g.103251295C>G-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000048392 MSeqDR Search EnsemblRRM2B1495ribonucleotide reductase M2 B (TP53 inducible) [Source:HGNC Symbol;Acc:17296]00037

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