NUBPL — 299 ClinVar variants
All ClinVar germline NUBPL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
10 Pathogenic · 2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 26 Conflicting · 48 Benign · 4 Benign/Likely benign · 59 Likely benign · 141 Uncertain significance
Full NUBPL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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 agree, ClinVar conflicts 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NUBPL p.Ala73Ser
Conflicting
Single submitter
Inborn genetic diseases
-
NUBPL p.Asn198Thr
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 21
-
NUBPL p.Asp105Tyr
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 21
-
NUBPL p.Gly26Val
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
-
NUBPL p.Gly2Arg
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 21
-
NUBPL p.His229Tyr
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NUBPL p.Lys59Arg Conflicting Single submitter
-
NUBPL p.Pro24Leu
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
Predictors lean, ClinVar uncertain 66
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NUBPL p.Ala100Thr
Uncertain significance
Multiple submitters
NUBPL-related disorder
-
NUBPL p.Ala21Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NUBPL p.Ala73Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NUBPL p.Arg226His
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
-
NUBPL p.Arg48Lys
Uncertain significance
Multiple submitters
intellectual disability
-
NUBPL p.Arg6Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NUBPL p.Asp298Ala
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 21
-
NUBPL p.Asp96Asn
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
-
NUBPL p.Glu319Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NUBPL p.Gly175Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NUBPL p.Gly221Val Uncertain significance Multiple submitters
-
NUBPL p.Phe292Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NUBPL p.Ser128Asn
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
-
NUBPL p.Ser97Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NUBPL p.Ala214Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Ala256Thr Uncertain significance Single submitter
-
NUBPL p.Ala300Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Ala307Val Uncertain significance Single submitter
-
NUBPL p.Arg132Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Arg16Pro Uncertain significance Single submitter
-
NUBPL p.Arg16Trp
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NUBPL p.Arg226Pro Uncertain significance Single submitter
- NUBPL p.Arg29Gln Uncertain significance Single submitter
- NUBPL p.Arg49Gly Uncertain significance Single submitter
- NUBPL p.Arg49Lys Uncertain significance Single submitter
-
NUBPL p.Arg6His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Arg6Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Asn129Ser
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 21
-
NUBPL p.Asn136Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Asn279Thr Uncertain significance Single submitter
-
NUBPL p.Asp173Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Asp190Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Asp190Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Asp298Glu
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NUBPL p.Gln264His Uncertain significance Single submitter
- NUBPL p.Gln47Arg Uncertain significance Single submitter
- NUBPL p.Gln60Arg Uncertain significance Single submitter
- NUBPL p.Glu299Gln Uncertain significance Single submitter
- NUBPL p.Glu309Asp Uncertain significance Single submitter
- NUBPL p.Gly12Glu Uncertain significance Single submitter
-
NUBPL p.Gly175Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Ile201Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Leu169Trp Uncertain significance Single submitter
- NUBPL p.Leu25Pro Uncertain significance Single submitter
-
NUBPL p.Leu278Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Leu57Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Leu92Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Leu9Phe
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
-
NUBPL p.Lys250Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Lys67Glu
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
-
NUBPL p.Met144Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Met216Thr Uncertain significance Single submitter
-
NUBPL p.Met216Val
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Pro317His Uncertain significance Single submitter
-
NUBPL p.Ser14Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Ser297Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Thr209Ser
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 21
- NUBPL p.Thr22Ala Uncertain significance Single submitter
-
NUBPL p.Trp156Cys
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 21
-
NUBPL p.Trp174Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Tyr109Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Val106Met Uncertain significance Single submitter
- NUBPL p.Val154Ile Uncertain significance Single submitter
-
NUBPL p.Val205Ala
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 21
-
NUBPL p.Val241Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Tyr303Asn
Uncertain significance
No assertion criteria
mitochondrial complex I deficiency, nuclear type 21
Predictors split 19
The independent predictors disagree with each other — read with care.
-
NUBPL p.Ala204Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NUBPL p.Met142Ile Uncertain significance Multiple submitters
-
NUBPL p.Ser163Leu
Uncertain significance
Multiple submitters
mitochondrial complex I deficiency, nuclear type 1
-
NUBPL p.Ala218Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Asn87Ser Uncertain significance Single submitter
-
NUBPL p.Asp96Val
Uncertain significance
Single submitter
mitochondrial complex I deficiency, nuclear type 1
-
NUBPL p.Gly138Asp
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 1
- NUBPL p.Gly255Ser Uncertain significance Single submitter
-
NUBPL p.Gly56Arg
Conflicting
Single submitter
mitochondrial complex I deficiency, nuclear type 21
- NUBPL p.Gly56Glu Likely benign Single submitter
- NUBPL p.Ile70Met Uncertain significance Single submitter
-
NUBPL p.Leu276Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Met184Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NUBPL p.Phe242Leu
Pathogenic
Single submitter
mitochondrial complex I deficiency, nuclear type 21
-
NUBPL p.Pro315Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Ser126Pro Uncertain significance Single submitter
- NUBPL p.Val148Ala Uncertain significance Single submitter
-
NUBPL p.Val205Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NUBPL p.Val228Ile Uncertain significance Single submitter
All NUBPL variants
Pathogenic 10
- p.Ala259fs Single submitter
- p.Arg55Ter Single submitter
- p.Cys141Ter Single submitter
- p.Gln237Ter Single submitter
- p.Gln68fs Single submitter
- p.Phe242Leu Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Ser194fs Single submitter
- p.Glu223delinsAlaLeuCysTer No assertion criteria mitochondrial complex I deficiency, nuclear type 21
- p.Leu193Phe No assertion criteria mitochondrial complex I deficiency, nuclear type 21
- p.Met117Ile No assertion criteria mitochondrial complex I deficiency, nuclear type 21
Pathogenic/Likely pathogenic 2
- c.693+1G>A Multiple submitters mitochondrial complex I deficiency, nuclear type 21
- p.Leu104Pro Multiple submitters mitochondrial complex I deficiency
Likely pathogenic 9
- p.Gln176Ter Multiple submitters mitochondrial complex I deficiency, nuclear type 21
- c.257-2A>G Single submitter Inborn genetic diseases
- c.423-1G>A Single submitter mitochondrial complex I deficiency, nuclear type 21
- c.423-1G>T Single submitter
- c.608-1G>C Single submitter
- p.Ala89fs Single submitter mitochondrial complex I deficiency, nuclear type 21
- p.Gln47fs Single submitter NUBPL-related disorder
- p.Glu150fs Single submitter mitochondrial complex I deficiency, nuclear type 21
- p.Ser208fs Single submitter mitochondrial complex I deficiency, nuclear type 21
Conflicting classifications of pathogenicity 26
- c.256+14T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.256+6A>G Single submitter
- c.422+8T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.815-27T>C Single submitter mitochondrial complex I deficiency, nuclear type 21
- c.-13A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-1C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-7C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*736C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ala73Ser Single submitter Inborn genetic diseases ⚠
- p.Asn198Thr Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Asn95= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Asp105Tyr Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Gly138Asp Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Gly26Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Gly2Arg Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Gly56Arg Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.His229Tyr Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Ile201= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ile213= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Lys59Arg Single submitter ⚠
- p.Lys67= Single submitter mitochondrial complex I deficiency, nuclear type 21
- p.Met1Thr Single submitter mitochondrial oxidative phosphorylation disorder
- p.Pro123= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Pro24Leu Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Ser54= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Val182Ala Single submitter mitochondrial complex I deficiency, nuclear type 1
Benign 48
- c.109-29C>T Multiple submitters
- c.257-73A>T Multiple submitters
- c.291+12963T>C Multiple submitters
- c.383-5del Multiple submitters
- c.513+121C>T Multiple submitters
- c.513+40918T>C Multiple submitters
- c.513+41068C>T Multiple submitters
- c.513+41069A>G Multiple submitters
- c.513+41190A>T Multiple submitters
- c.514-32A>G Multiple submitters mitochondrial complex I deficiency, nuclear type 21
- c.608-63T>A Multiple submitters
- c.693+145A>G Multiple submitters
- c.693+147A>C Multiple submitters
- c.693+98A>G Multiple submitters
- c.814+104A>G Multiple submitters
- c.815-84T>G Multiple submitters
- c.815-92G>A Multiple submitters
- c.897+81C>T Multiple submitters
- c.898-92C>T Multiple submitters
- c.*122G>C Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*1685A>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*1694G>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*1874A>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*1888G>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*273C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*312G>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*444C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*836C>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*995T>C Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.257-293del Single submitter
- c.291+13196C>A Single submitter
- c.292-253A>C Single submitter
- c.292-280A>G Single submitter
- c.383-132G>A Single submitter
- c.383-24AG[2] Single submitter
- c.383-67del Single submitter
- c.513+150A>G Single submitter
- c.514-271G>A Single submitter
- c.514-275A>G Single submitter
- c.693+142_693+144del Single submitter
- c.693+236G>A Single submitter
- c.694-206del Single submitter
- c.814+192T>C Single submitter
- c.815-180A>G Single submitter
- c.897+155A>G Single submitter
- c.897+164A>G Single submitter
- c.898-160G>T Single submitter
- c.898-212C>T Single submitter
Benign/Likely benign 4
- c.383-5dup Multiple submitters mitochondrial complex I deficiency, nuclear type 21
- c.383-6_383-5dup Multiple submitters
- c.608-16G>A Multiple submitters
- c.693+19A>G Multiple submitters
Likely benign 59
- c.108+14C>T Multiple submitters
- c.109-22TTA[3] Multiple submitters
- c.422+13A>G Multiple submitters
- c.514-103G>A Multiple submitters
- c.693+7G>A Multiple submitters
- c.*1451C>T Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*26C>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Gly39= Multiple submitters
- p.Leu168= Multiple submitters
- p.Pro62= Multiple submitters
- p.Thr209= Multiple submitters
- c.108+217G>C Single submitter
- c.108+7G>A Single submitter
- c.109-103G>A Single submitter
- c.291+12585C>T Single submitter
- c.291+12956G>A Single submitter
- c.291+12974A>G Single submitter
- c.292-17T>C Single submitter
- c.383-16_383-15insC Single submitter
- c.383-3dup Single submitter
- c.383-5T>C Single submitter
- c.422+11A>G Single submitter
- c.513+19A>G Single submitter
- c.513+41027C>T Single submitter
- c.607+274del Single submitter
- c.608-13T>G Single submitter
- c.608-192A>C Single submitter
- c.608-8T>C Single submitter
- c.693+10_693+17del Single submitter
- c.693+18C>A Single submitter
- c.694-20T>G Single submitter
- c.694-218_694-217del Single submitter
- c.814+16G>A Single submitter
- c.815-15G>A Single submitter
- c.898-16G>C Single submitter
- c.898-3C>T Single submitter
- p.Ala17= Single submitter
- p.Arg132= Single submitter
- p.Arg35= Single submitter
- p.Asp183= Single submitter
- p.Asp285= Single submitter
- p.Gln192= Single submitter
- p.Gln288= Single submitter
- p.Glu319= Single submitter
- p.Glu64= Single submitter
- p.Gly138= Single submitter
- p.Gly158= Single submitter
- p.Gly203= Single submitter
- p.Gly56Glu Single submitter ⚠
- p.Ile101Val Single submitter Inborn genetic diseases
- p.Leu193= Single submitter
- p.Leu235= Single submitter
- p.Leu45= Single submitter
- p.Lys115= Single submitter
- p.Pro153= Single submitter
- p.Ser82= Single submitter
- p.Val108= Single submitter
- p.Val66= Single submitter
- p.Val79= Single submitter
Uncertain significance 141
- c.382+3A>G Multiple submitters Inborn genetic diseases
- c.*1151G>A Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- c.*806A>G Multiple submitters mitochondrial complex I deficiency, nuclear type 1
- p.Ala100Thr Multiple submitters NUBPL-related disorder ⚠
- p.Ala204Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala21Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala73Asp Multiple submitters Inborn genetic diseases ⚠
- p.Arg226His Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Arg48Lys Multiple submitters intellectual disability ⚠
- p.Arg6Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp298Ala Multiple submitters mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Asp96Asn Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Glu319Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly175Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly221Val Multiple submitters ⚠
- p.Met142Ile Multiple submitters ⚠
- p.Phe292Cys Multiple submitters Inborn genetic diseases ⚠
- p.Ser128Asn Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Ser163Leu Multiple submitters mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Ser97= Multiple submitters
- p.Ser97Leu Multiple submitters Inborn genetic diseases ⚠
- c.109-11A>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.109-4A>G Single submitter Inborn genetic diseases
- c.291+12978G>A Single submitter
- c.514-19835C>A Single submitter mitochondrial complex I deficiency, nuclear type 21
- c.607+3A>G Single submitter
- c.-25A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.-6C>T Single submitter
- c.*1015C>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1047C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1048G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1260T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*135T>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1370C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1554A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1594T>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1609G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1619C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1621C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1655A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1768G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1773A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1776G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1840A>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*188T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1940A>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*1963C>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*2036A>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*237G>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*301G>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*323G>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*344T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*355T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*357C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*527G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*561G>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*638C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*72T>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*742C>G Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*817T>A Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*850C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*864C>T Single submitter mitochondrial complex I deficiency, nuclear type 1
- c.*905A>C Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ala214Thr Single submitter Inborn genetic diseases ⚠
- p.Ala218Thr Single submitter Inborn genetic diseases ⚠
- p.Ala256Thr Single submitter ⚠
- p.Ala259= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ala30= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ala300Thr Single submitter Inborn genetic diseases ⚠
- p.Ala307Val Single submitter ⚠
- p.Ala89Thr Single submitter mitochondrial complex I deficiency, nuclear type 21
- p.Arg132Thr Single submitter Inborn genetic diseases ⚠
- p.Arg16Pro Single submitter ⚠
- p.Arg16Trp Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Arg226Pro Single submitter ⚠
- p.Arg29Gln Single submitter ⚠
- p.Arg49del Single submitter
- p.Arg49Gly Single submitter ⚠
- p.Arg49Lys Single submitter ⚠
- p.Arg6His Single submitter Inborn genetic diseases ⚠
- p.Arg6Ser Single submitter Inborn genetic diseases ⚠
- p.Asn129Ser Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Asn136Ser Single submitter Inborn genetic diseases ⚠
- p.Asn279Thr Single submitter ⚠
- p.Asn87Ser Single submitter ⚠
- p.Asp173Val Single submitter Inborn genetic diseases ⚠
- p.Asp190Asn Single submitter Inborn genetic diseases ⚠
- p.Asp190Val Single submitter Inborn genetic diseases ⚠
- p.Asp298Glu Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Asp96Val Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Gln197fs Single submitter mitochondrial complex I deficiency, nuclear type 21
- p.Gln264His Single submitter ⚠
- p.Gln47Arg Single submitter ⚠
- p.Gln60Arg Single submitter ⚠
- p.Glu299Gln Single submitter ⚠
- p.Glu309Asp Single submitter ⚠
- p.Gly12Glu Single submitter ⚠
- p.Gly175Cys Single submitter Inborn genetic diseases ⚠
- p.Gly255Ser Single submitter ⚠
- p.Ile201Val Single submitter Inborn genetic diseases ⚠
- p.Ile70Met Single submitter ⚠
- p.Leu103Ter Single submitter mitochondrial complex I deficiency, nuclear type 21
- p.Leu169Trp Single submitter ⚠
- p.Leu25Pro Single submitter ⚠
- p.Leu276Phe Single submitter Inborn genetic diseases ⚠
- p.Leu278Arg Single submitter Inborn genetic diseases ⚠
- p.Leu57Val Single submitter Inborn genetic diseases ⚠
- p.Leu92Pro Single submitter Inborn genetic diseases ⚠
- p.Leu9Phe Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Lys250Arg Single submitter Inborn genetic diseases ⚠
- p.Lys67Glu Single submitter mitochondrial complex I deficiency, nuclear type 1 ⚠
- p.Met117Val Single submitter mitochondrial complex I deficiency
- p.Met144Val Single submitter Inborn genetic diseases ⚠
- p.Met184Ile Single submitter Inborn genetic diseases ⚠
- p.Met216Thr Single submitter ⚠
- p.Met216Val Single submitter Inborn genetic diseases ⚠
- p.Pro123Leu Single submitter Inborn genetic diseases
- p.Pro231Leu Single submitter
- p.Pro315Leu Single submitter Inborn genetic diseases ⚠
- p.Pro317His Single submitter ⚠
- p.Ser126Pro Single submitter ⚠
- p.Ser128= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Ser14Leu Single submitter Inborn genetic diseases ⚠
- p.Ser240Asn Single submitter Inborn genetic diseases
- p.Ser297Gly Single submitter Inborn genetic diseases ⚠
- p.Thr209Met Single submitter
- p.Thr209Ser Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Thr22Ala Single submitter ⚠
- p.Trp156Cys Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Trp174Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr109Cys Single submitter Inborn genetic diseases ⚠
- p.Val106Met Single submitter ⚠
- p.Val148Ala Single submitter ⚠
- p.Val154Ile Single submitter ⚠
- p.Val191= Single submitter mitochondrial complex I deficiency, nuclear type 1
- p.Val205Ala Single submitter mitochondrial complex I deficiency, nuclear type 21 ⚠
- p.Val205Leu Single submitter Inborn genetic diseases ⚠
- p.Val228Ile Single submitter ⚠
- p.Val230Met Single submitter Inborn genetic diseases
- p.Val241Leu Single submitter Inborn genetic diseases ⚠
- p.Tyr303Asn No assertion criteria mitochondrial complex I deficiency, nuclear type 21 ⚠