RRM2B — 410 ClinVar variants
All ClinVar germline RRM2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 122 flagged for review →
15 Pathogenic · 6 Pathogenic/Likely pathogenic · 22 Likely pathogenic · 34 Conflicting · 46 Benign · 12 Benign/Likely benign · 104 Likely benign · 171 Uncertain significance
Full RRM2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 122
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
RRM2B p.Asn343Asp
Likely pathogenic
Single submitter
mitochondrial DNA depletion syndrome 8a
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RRM2B p.Ala305Ser
Conflicting
Single submitter
mitochondrial DNA depletion syndrome 8a
-
RRM2B p.Arg40His
Conflicting
Single submitter
mitochondrial DNA depletion syndrome 8a
-
RRM2B p.Asn221Ser
Conflicting
Single submitter
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Gly200Glu Conflicting Single submitter
-
RRM2B p.Thr144Ile
Conflicting
Single submitter
Mitochondrial DNA maintenance disorder
-
RRM2B p.Thr161Ile
Conflicting
Single submitter
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
-
RRM2B p.Thr182Ala
Conflicting
Single submitter
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RRM2B p.Ala172Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RRM2B p.Ala59Pro Uncertain significance Multiple submitters
-
RRM2B p.Arg252Lys
Uncertain significance
Multiple submitters
mitochondrial DNA depletion syndrome 8a
-
RRM2B p.Asn157Ser
Uncertain significance
Multiple submitters
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
-
RRM2B p.Asn343Lys
Uncertain significance
Multiple submitters
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Asp70Asn Uncertain significance Multiple submitters
-
RRM2B p.Gln48Arg
Uncertain significance
Multiple submitters
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- RRM2B p.Glu194Gln Uncertain significance Multiple submitters
- RRM2B p.Glu24Lys Uncertain significance Multiple submitters
-
RRM2B p.Gly11Glu
Uncertain significance
Multiple submitters
rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
-
RRM2B p.Gly273Ser
Uncertain significance
Multiple submitters
mitochondrial DNA depletion syndrome 8a
-
RRM2B p.Ile159Val
Uncertain significance
Multiple submitters
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Leu75Val Uncertain significance Multiple submitters
-
RRM2B p.Lys168Arg
Uncertain significance
Multiple submitters
mitochondrial DNA depletion syndrome 8a
-
RRM2B p.Met162Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RRM2B p.Phe123Ser Uncertain significance Multiple submitters
- RRM2B p.Pro118Ser Uncertain significance Multiple submitters
-
RRM2B p.Pro149Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RRM2B p.Pro33Gln
Uncertain significance
Multiple submitters
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
-
RRM2B p.Pro33Ser
Uncertain significance
Multiple submitters
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Pro50Ala Uncertain significance Multiple submitters
-
RRM2B p.Ser139Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RRM2B p.Tyr285Asp Uncertain significance Multiple submitters
- RRM2B p.Val117Ile Uncertain significance Multiple submitters
- RRM2B p.Val344Ala Uncertain significance Multiple submitters
- RRM2B p.Ala258Val Uncertain significance Single submitter
- RRM2B p.Ala61Pro Uncertain significance Single submitter
- RRM2B p.Ala94Val Uncertain significance Single submitter
- RRM2B p.Ala97Val Uncertain significance Single submitter
-
RRM2B p.Arg121Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- RRM2B p.Arg147Gly Uncertain significance Single submitter
- RRM2B p.Arg333Cys Uncertain significance Single submitter
-
RRM2B p.Asn23Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- RRM2B p.Asn278Asp Uncertain significance Single submitter
-
RRM2B p.Asn278Lys
Uncertain significance
Single submitter
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Asn314Tyr Uncertain significance Single submitter
- RRM2B p.Asp178Gly Uncertain significance Single submitter
- RRM2B p.Asp257Asn Uncertain significance Single submitter
-
RRM2B p.Asp70Glu
Uncertain significance
Single submitter
mitochondrial DNA depletion syndrome 8a
-
RRM2B p.Gln304Glu
Uncertain significance
Single submitter
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Gln48His Uncertain significance Single submitter
- RRM2B p.Glu136Asp Uncertain significance Single submitter
- RRM2B p.Glu249Gln Uncertain significance Single submitter
- RRM2B p.Gly200Arg Uncertain significance Single submitter
-
RRM2B p.Ile102Met
Uncertain significance
Single submitter
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Ile142Leu Uncertain significance Single submitter
-
RRM2B p.Ile254Val
Uncertain significance
Single submitter
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Ile92Met Uncertain significance Single submitter
-
RRM2B p.Leu107Ser
Uncertain significance
Single submitter
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Leu347Trp Uncertain significance Single submitter
- RRM2B p.Lys37Arg Uncertain significance Single submitter
- RRM2B p.Lys37Glu Uncertain significance Single submitter
- RRM2B p.Met214Arg Uncertain significance Single submitter
- RRM2B p.Met238Leu Uncertain significance Single submitter
- RRM2B p.Met337Thr Uncertain significance Single submitter
- RRM2B p.Met55Thr Uncertain significance Single submitter
-
RRM2B p.Phe123Leu
Uncertain significance
Single submitter
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Phe190Leu Uncertain significance Single submitter
- RRM2B p.Phe202Ser Uncertain significance Single submitter
- RRM2B p.Phe206Val Uncertain significance Single submitter
- RRM2B p.Phe351Ser Uncertain significance Single submitter
- RRM2B p.Pro246Thr Uncertain significance Single submitter
- RRM2B p.Pro271Thr Uncertain significance Single submitter
- RRM2B p.Ser181Pro Uncertain significance Single submitter
-
RRM2B p.Ser201Phe
Uncertain significance
Single submitter
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Ser201Pro Uncertain significance Single submitter
- RRM2B p.Ser247Ala Uncertain significance Single submitter
- RRM2B p.Ser25Gly Uncertain significance Single submitter
- RRM2B p.Ser72Pro Uncertain significance Single submitter
-
RRM2B p.Thr341Arg
Uncertain significance
Single submitter
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Trp207Cys Uncertain significance Single submitter
- RRM2B p.Trp64Gly Uncertain significance Single submitter
- RRM2B p.Tyr124Cys Uncertain significance Single submitter
- RRM2B p.Tyr164Cys Uncertain significance Single submitter
- RRM2B p.Tyr331Cys Uncertain significance Single submitter
- RRM2B p.Val103Leu Uncertain significance Single submitter
- RRM2B p.Val115Ala Uncertain significance Single submitter
- RRM2B p.Val115Leu Uncertain significance Single submitter
-
RRM2B p.Val243Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- RRM2B p.Val256Ala Uncertain significance Single submitter
- RRM2B p.Val344Ile Uncertain significance Single submitter
- RRM2B p.Val69Ile Uncertain significance Single submitter
-
RRM2B p.Phe202Leu
Uncertain significance
No assertion criteria
progressive external ophthalmoplegia
Predictors split 31
The independent predictors disagree with each other — read with care.
-
RRM2B p.Asp170Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RRM2B p.Ile142Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RRM2B p.Ile176Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RRM2B p.Ile205Val
Uncertain significance
Multiple submitters
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
-
RRM2B p.Lys86Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RRM2B p.Phe154Cys
Uncertain significance
Multiple submitters
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Val133Leu Uncertain significance Multiple submitters
- RRM2B p.Ala192Thr Uncertain significance Single submitter
- RRM2B p.Ala61Ser Uncertain significance Single submitter
-
RRM2B p.Arg110His
Conflicting
Single submitter
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Arg211Lys Uncertain significance Single submitter
-
RRM2B p.Arg250Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
RRM2B p.Arg40Cys
Conflicting
Single submitter
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Arg41Gln Conflicting Single submitter
-
RRM2B p.Arg41Pro
Conflicting
Single submitter
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Asn343Ile Uncertain significance Single submitter
- RRM2B p.Gln116Arg Uncertain significance Single submitter
- RRM2B p.Gln263Arg Uncertain significance Single submitter
- RRM2B p.Glu131Lys Uncertain significance Single submitter
-
RRM2B p.Glu262Asp
Conflicting
Single submitter
sensorineural hearing loss disorder
- RRM2B p.His91Tyr Uncertain significance Single submitter
- RRM2B p.Ile286Met Uncertain significance Single submitter
- RRM2B p.Ile47Val Uncertain significance Single submitter
- RRM2B p.Lys210Arg Uncertain significance Single submitter
-
RRM2B p.Met337Lys
Uncertain significance
Single submitter
mitochondrial DNA depletion syndrome 8a
- RRM2B p.Phe45Leu Uncertain significance Single submitter
-
RRM2B p.Pro163Leu
Uncertain significance
Single submitter
progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- RRM2B p.Pro163Thr Uncertain significance Single submitter
- RRM2B p.Ser112Gly Uncertain significance Single submitter
- RRM2B p.Thr218Ala Uncertain significance Single submitter
- RRM2B p.Val103Ile Uncertain significance Single submitter
All RRM2B variants
Pathogenic 15
- c.322-2A>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Arg327Ter Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Trp53Ter Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.205-2A>G Single submitter
- c.550+1G>A Single submitter
- p.Ala169fs Single submitter
- p.Arg147Ter Single submitter
- p.Ile176fs Single submitter mitochondrial DNA depletion syndrome 8a
- p.Ser316_Leu317insTer Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- p.Tyr138_Ser139delinsTer Single submitter mitochondrial DNA depletion syndrome 8a
- p.Arg121His No assertion criteria Mitochondrial DNA depletion syndrome 8B (MNGIE type)
- p.Asn322fs No assertion criteria progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- p.Cys236Phe No assertion criteria mitochondrial DNA depletion syndrome 8a
- p.Gln284Ter No assertion criteria mitochondrial DNA depletion syndrome 8a
- p.Glu194Lys No assertion criteria mitochondrial DNA depletion syndrome 8a
Pathogenic/Likely pathogenic 6
- p.Arg174Ter Multiple submitters RRM2B-related disorder
- p.Arg41Trp Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Gly229Val Multiple submitters RRM2B-related disorder
- p.Ile224Ser Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Lys37fs Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Tyr145fs Multiple submitters RRM2B-related disorder
Likely pathogenic 22
- c.455+1G>A Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Arg110Cys Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Met282Ile Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.205-1G>C Single submitter
- c.321+1G>T Single submitter
- c.48+268_48+269delinsAA Single submitter mitochondrial DNA depletion syndrome 8a
- c.49-2A>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.551-2A>G Single submitter RRM2B-related disorder
- c.684+1G>A Single submitter
- p.Ala158Thr Single submitter mitochondrial DNA depletion syndrome 8a
- p.Arg292fs Single submitter
- p.Asn343Asp Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Asp70Tyr Single submitter
- p.Cys232Ter Single submitter
- p.Glu32Ter Single submitter mitochondrial DNA depletion syndrome 8a
- p.Gly212_Leu213insSer Single submitter mitochondrial DNA depletion syndrome 8a
- p.Lys180fs Single submitter mitochondrial DNA depletion syndrome 8a
- p.Phe323fs Single submitter mitochondrial DNA depletion syndrome 8a
- p.Ser62fs Single submitter mitochondrial DNA depletion syndrome 8a
- p.Ser62Xaa Single submitter
- p.Tyr56Ter Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- p.Val43Asp Single submitter mitochondrial DNA depletion syndrome 8a
Conflicting classifications of pathogenicity 34
- c.204+5G>A Single submitter mitochondrial DNA depletion syndrome 8a
- c.205-3C>T Single submitter
- c.48+180G>A Single submitter
- c.48+188del Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.48+48C>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.48+96G>C Single submitter mitochondrial DNA depletion syndrome 8a
- c.551-11_551-10del Single submitter
- c.551-2A>T Single submitter
- c.685-4T>G Single submitter
- c.790-2A>G Single submitter RRM2B-related disorder
- c.790-9T>C Single submitter mitochondrial DNA depletion syndrome 8a
- c.*11G>A Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*2822A>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*3078G>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*817G>A Single submitter mitochondrial DNA depletion syndrome 8a
- p.Ala305Ser Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Arg110His Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Arg252= Single submitter mitochondrial DNA depletion syndrome 8a
- p.Arg40Cys Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Arg40His Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Arg41Gln Single submitter ⚠
- p.Arg41Pro Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Asn221Ser Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Glu262Asp Single submitter sensorineural hearing loss disorder ⚠
- p.Glu85del Single submitter rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- p.Gly200Glu Single submitter ⚠
- p.Lys180= Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- p.Lys54= Single submitter mitochondrial DNA depletion syndrome 8a
- p.Phe183= Single submitter
- p.Ser225Asn Single submitter
- p.Thr144Ile Single submitter Mitochondrial DNA maintenance disorder ⚠
- p.Thr161Ile Single submitter rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction ⚠
- p.Thr182Ala Single submitter rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction ⚠
- p.Thr321fs Single submitter RRM2B-related disorder
Benign 46
- c.204+156G>A Multiple submitters
- c.322-37A>G Multiple submitters
- c.48+125G>A Multiple submitters
- c.48+215dup Multiple submitters
- c.48+280C>G Multiple submitters
- c.48+64G>A Multiple submitters
- c.49-25C>T Multiple submitters
- c.49-67T>G Multiple submitters
- c.551-156G>T Multiple submitters
- c.790-106T>G Multiple submitters
- c.-88C>A Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*1121T>C Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*1277A>T Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*1488G>C Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*1601A>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*1673T>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*2136G>A Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*2666T>C Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*2675A>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*2879A>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*3395C>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*3463C>T Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*3527G>A Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*3593G>A Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*732A>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*866T>G Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*998A>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Val69= Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.204+263dup Single submitter
- c.204+280del Single submitter
- c.205-275del Single submitter
- c.205-310TA[10] Single submitter
- c.205-335A>G Single submitter
- c.321+218G>A Single submitter
- c.322-288A>G Single submitter
- c.456-202G>A Single submitter
- c.48+118C>T Single submitter
- c.684+281G>A Single submitter
- c.684+72dup Single submitter
- c.789+303_789+304insG Single submitter
- c.790-66_790-63del Single submitter
- c.904-248T>G Single submitter
- c.*1953A>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2035A>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2097T>A Single submitter mitochondrial DNA depletion syndrome 8a
- c.*3555T>C Single submitter mitochondrial DNA depletion syndrome 8a
Benign/Likely benign 12
- c.322-25_322-18dup Multiple submitters
- c.48+265C>G Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.48+273G>T Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.551-18C>T Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.685-20A>T Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.790-8C>A Multiple submitters rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- c.*1351T>C Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*190T>C Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.*1596T>C Single submitter mitochondrial DNA depletion syndrome 8a
- c.*1867C>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2236A>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*3489A>G Single submitter mitochondrial DNA depletion syndrome 8a
Likely benign 104
- c.322-30T>G Multiple submitters
- c.322-7T>C Multiple submitters mitochondrial DNA depletion syndrome 8a
- c.48+247C>T Multiple submitters
- c.550+80C>T Multiple submitters
- c.789+7C>G Multiple submitters
- c.789+8G>A Multiple submitters
- c.790-78C>T Multiple submitters
- p.Asn23= Multiple submitters
- p.Asn343= Multiple submitters
- p.Asp178= Multiple submitters rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- p.Glu136= Multiple submitters
- p.Phe345= Multiple submitters
- p.Ser247= Multiple submitters
- c.204+10A>G Single submitter
- c.204+15C>T Single submitter
- c.205-17A>G Single submitter
- c.205-7A>G Single submitter
- c.321+12G>T Single submitter
- c.321+14T>C Single submitter
- c.321+17A>G Single submitter
- c.322-11T>C Single submitter
- c.322-19A>G Single submitter
- c.322-4T>G Single submitter
- c.322-8C>T Single submitter
- c.455+16_455+20del Single submitter
- c.455+17A>G Single submitter
- c.455+6G>T Single submitter
- c.455+7_455+9del Single submitter
- c.456-18A>G Single submitter
- c.48+181G>A Single submitter
- c.48+215C>T Single submitter
- c.48+97G>T Single submitter
- c.49-14T>C Single submitter
- c.49-16A>C Single submitter
- c.551-17G>A Single submitter
- c.551-19A>G Single submitter
- c.551-7C>T Single submitter
- c.551-8T>C Single submitter
- c.684+12A>G Single submitter
- c.684+183C>T Single submitter
- c.684+88del Single submitter
- c.685-10T>G Single submitter
- c.685-14T>G Single submitter
- c.685-17T>C Single submitter
- c.685-18A>G Single submitter
- c.789+7C>T Single submitter
- c.790-14T>C Single submitter
- c.790-19G>T Single submitter
- c.790-227G>A Single submitter
- c.790-228C>T Single submitter
- c.790-8C>T Single submitter
- c.903+12A>C Single submitter
- c.903+17del Single submitter
- c.903+7T>C Single submitter
- c.904-20A>C Single submitter
- c.904-248dup Single submitter
- c.904-262C>G Single submitter
- c.904-9C>T Single submitter
- c.*10= Single submitter
- p.Ala269= Single submitter
- p.Ala338= Single submitter
- p.Ala59= Single submitter
- p.Arg17= Single submitter
- p.Asn221= Single submitter
- p.Asn278= Single submitter
- p.Asn79= Single submitter
- p.Asp70= Single submitter
- p.Cys236= Single submitter
- p.Gln116= Single submitter
- p.Gln240= Single submitter
- p.Gln284= Single submitter
- p.Gln304= Single submitter
- p.Glu222= Single submitter
- p.Glu330= Single submitter
- p.Gly319= Single submitter
- p.Ile102= Single submitter
- p.Ile130= Single submitter
- p.Ile52= Single submitter
- p.Leu129= Single submitter
- p.Leu141= Single submitter
- p.Leu281= Single submitter
- p.Leu35= Single submitter
- p.Leu71= Single submitter
- p.Lys37= Single submitter
- p.Lys82= Single submitter
- p.Lys86= Single submitter
- p.Phe111= Single submitter
- p.Phe239= Single submitter
- p.Phe309= Single submitter
- p.Phe311= Single submitter
- p.Pro215= Single submitter
- p.Pro33= Single submitter
- p.Ser135= Single submitter
- p.Ser18= Single submitter
- p.Ser300= Single submitter
- p.Thr144= Single submitter
- p.Thr346= Single submitter
- p.Tyr49= Single submitter
- p.Val187= Single submitter
- c.204+4C>T No assertion criteria RRM2B-related disorder
- c.205-4C>T No assertion criteria RRM2B-related disorder
- c.48+169C>T No assertion criteria RRM2B-related disorder
- p.Lys245= No assertion criteria RRM2B-related disorder
- p.Ter352= No assertion criteria
Uncertain significance 171
- c.48+156G>A Multiple submitters rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- c.*1510T>C Multiple submitters mitochondrial DNA depletion syndrome 8a
- p.Ala172Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala59Pro Multiple submitters ⚠
- p.Arg252Lys Multiple submitters mitochondrial DNA depletion syndrome 8a ⚠
- p.Asn157Ser Multiple submitters rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction ⚠
- p.Asn343Lys Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Asp170Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asp70Asn Multiple submitters ⚠
- p.Gln48Arg Multiple submitters rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction ⚠
- p.Glu194Gln Multiple submitters ⚠
- p.Glu24Lys Multiple submitters ⚠
- p.Gly11Glu Multiple submitters rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction ⚠
- p.Gly273Ser Multiple submitters mitochondrial DNA depletion syndrome 8a ⚠
- p.Ile142Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile159Val Multiple submitters mitochondrial DNA depletion syndrome 8a ⚠
- p.Ile176Met Multiple submitters Inborn genetic diseases ⚠
- p.Ile205Val Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Leu75Val Multiple submitters ⚠
- p.Lys168Arg Multiple submitters mitochondrial DNA depletion syndrome 8a ⚠
- p.Lys86Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met162Val Multiple submitters Inborn genetic diseases ⚠
- p.Phe123Ser Multiple submitters ⚠
- p.Phe154Cys Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Pro118Ser Multiple submitters ⚠
- p.Pro149Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro33Gln Multiple submitters progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Pro33Ser Multiple submitters mitochondrial DNA depletion syndrome 8a ⚠
- p.Pro50Ala Multiple submitters ⚠
- p.Ser139Thr Multiple submitters Inborn genetic diseases ⚠
- p.Tyr285Asp Multiple submitters ⚠
- p.Val117Ile Multiple submitters ⚠
- p.Val133Leu Multiple submitters ⚠
- p.Val344Ala Multiple submitters ⚠
- c.322-3T>C Single submitter
- c.455+5T>C Single submitter
- c.455+6G>A Single submitter
- c.48+108_48+111dup Single submitter
- c.48+148C>A Single submitter
- c.48+213C>T Single submitter
- c.48+218_48+219delinsCT Single submitter
- c.48+228C>T Single submitter
- c.48+248G>C Single submitter
- c.48+257C>G Single submitter
- c.48+63T>C Single submitter
- c.48+70C>G Single submitter Inborn genetic diseases
- c.48+78G>A Single submitter
- c.48+83T>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.49-12T>C Single submitter
- c.49-5C>T Single submitter Inborn genetic diseases
- c.550+6T>C Single submitter
- c.684+4del Single submitter
- c.-193G>C Single submitter mitochondrial DNA depletion syndrome 8a
- c.*1337G>C Single submitter mitochondrial DNA depletion syndrome 8a
- c.*1451A>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*1522A>G Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*1552T>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*1664T>A Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*1717T>A Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2410C>A Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*247G>A Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2513T>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*2722A>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2728G>A Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*2809G>A Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2885A>G Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*2960G>A Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2978A>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2991C>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*2995A>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*3118T>G Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*3125T>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*3250G>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*3266G>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*3289A>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.*328G>A Single submitter mitochondrial DNA depletion syndrome 8a
- c.*3473A>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.*3577G>T Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*436A>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.*485A>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*552G>A Single submitter mitochondrial DNA depletion syndrome 8a
- c.*73A>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*74del Single submitter rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
- c.*788T>C Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- c.*855C>G Single submitter mitochondrial DNA depletion syndrome 8a
- c.*869G>T Single submitter mitochondrial DNA depletion syndrome 8a
- c.*895G>A Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- p.Ala192Thr Single submitter ⚠
- p.Ala258Val Single submitter ⚠
- p.Ala61Pro Single submitter ⚠
- p.Ala61Ser Single submitter ⚠
- p.Ala94Val Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg121Cys Single submitter Inborn genetic diseases ⚠
- p.Arg147Gly Single submitter ⚠
- p.Arg211Lys Single submitter ⚠
- p.Arg250Gly Single submitter Inborn genetic diseases ⚠
- p.Arg333Cys Single submitter ⚠
- p.Asn23Thr Single submitter Inborn genetic diseases ⚠
- p.Asn278Asp Single submitter ⚠
- p.Asn278Lys Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Asn314fs Single submitter
- p.Asn314Tyr Single submitter ⚠
- p.Asn343Ile Single submitter ⚠
- p.Asp178Gly Single submitter ⚠
- p.Asp257Asn Single submitter ⚠
- p.Asp70Glu Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Gln113His Single submitter
- p.Gln116Arg Single submitter ⚠
- p.Gln263Arg Single submitter ⚠
- p.Gln304Glu Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Gln48His Single submitter ⚠
- p.Glu131Lys Single submitter ⚠
- p.Glu136Asp Single submitter ⚠
- p.Glu194del Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- p.Glu249Gln Single submitter ⚠
- p.Glu85Met Single submitter
- p.Gly200Arg Single submitter ⚠
- p.His91Tyr Single submitter ⚠
- p.Ile102Met Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Ile142Leu Single submitter ⚠
- p.Ile254Val Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Ile286Met Single submitter ⚠
- p.Ile47Val Single submitter ⚠
- p.Ile92Met Single submitter ⚠
- p.Leu107Ser Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Leu155_Phe156del Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- p.Leu347Trp Single submitter ⚠
- p.Lys210Arg Single submitter ⚠
- p.Lys37Arg Single submitter ⚠
- p.Lys37Glu Single submitter ⚠
- p.Met162Ile Single submitter
- p.Met214Arg Single submitter ⚠
- p.Met238Leu Single submitter ⚠
- p.Met337Lys Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Met337Thr Single submitter ⚠
- p.Met55Thr Single submitter ⚠
- p.Phe123Leu Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Phe190Leu Single submitter ⚠
- p.Phe202Ser Single submitter ⚠
- p.Phe206Val Single submitter ⚠
- p.Phe351Ser Single submitter ⚠
- p.Phe45Leu Single submitter ⚠
- p.Pro163Leu Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Pro163Thr Single submitter ⚠
- p.Pro246Thr Single submitter ⚠
- p.Pro271Thr Single submitter ⚠
- p.Ser112Gly Single submitter ⚠
- p.Ser181Pro Single submitter ⚠
- p.Ser201Phe Single submitter progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 ⚠
- p.Ser201Pro Single submitter ⚠
- p.Ser247Ala Single submitter ⚠
- p.Ser25Gly Single submitter ⚠
- p.Ser72Pro Single submitter ⚠
- p.Thr218Ala Single submitter ⚠
- p.Thr341Arg Single submitter mitochondrial DNA depletion syndrome 8a ⚠
- p.Trp207Cys Single submitter ⚠
- p.Trp64Gly Single submitter ⚠
- p.Tyr124Cys Single submitter ⚠
- p.Tyr164Cys Single submitter ⚠
- p.Tyr331Cys Single submitter ⚠
- p.Val103Ile Single submitter ⚠
- p.Val103Leu Single submitter ⚠
- p.Val115Ala Single submitter ⚠
- p.Val115Leu Single submitter ⚠
- p.Val243Ile Single submitter Inborn genetic diseases ⚠
- p.Val256Ala Single submitter ⚠
- p.Val344Ile Single submitter ⚠
- p.Val69Ile Single submitter ⚠
- c.48+97dup No assertion criteria RRM2B-related disorder
- p.Phe202Leu No assertion criteria progressive external ophthalmoplegia ⚠