DARS2 — 495 ClinVar variants

All ClinVar germline DARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 193 flagged for review →

29 Pathogenic · 17 Pathogenic/Likely pathogenic · 27 Likely pathogenic · 34 Conflicting · 51 Benign · 7 Benign/Likely benign · 141 Likely benign · 189 Uncertain significance

Full DARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 193

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 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

DARS2 p.Arg263Gln Pathogenic/Likely pathogenic Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Arg58Gly Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
DARS2 p.Glu98Asp Pathogenic/Likely pathogenic Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu588Val Pathogenic/Likely pathogenic Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Ala151Asp Likely pathogenic No assertion criteria
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Ser45Gly Pathogenic No assertion criteria
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Predictors agree, ClinVar conflicts 10

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

DARS2 p.Ala151Ser Conflicting Single submitter
Inborn genetic diseases
DARS2 p.Arg179Cys Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Asp87Asn Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Asp87Gly Conflicting Single submitter
Inborn genetic diseases
DARS2 p.His501Tyr Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu250Pro Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Lys520Gln Conflicting Single submitter
Inborn genetic diseases
DARS2 p.Met183Ile Conflicting Single submitter
Inborn genetic diseases
DARS2 p.Phe484Leu Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Val481Met Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Predictors lean, ClinVar uncertain 88

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

DARS2 p.Ala448Val Uncertain significance Multiple submitters
DARS2 p.Ala554Thr Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Arg125His Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Arg170Trp Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Asn416Asp Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Cys590Arg Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Cys590Ser Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gln248Lys Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Glu277Lys Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.His445Tyr Uncertain significance Multiple submitters
DARS2 p.Leu204Val Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Leu486Phe Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Met419Val Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Phe355Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Phe478Ser Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Pro576Ser Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Ser15Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Tyr30Cys Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Val414Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Ala110Thr Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ala127Val Uncertain significance Single submitter
DARS2 p.Ala168Gly Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ala223Gly Uncertain significance Single submitter
DARS2 p.Ala391Val Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ala582Thr Uncertain significance Single submitter
DARS2 p.Arg198Trp Uncertain significance Single submitter
DARS2 p.Arg19Ser Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Arg257Gly Uncertain significance Single submitter
DARS2 p.Arg266Gln Uncertain significance Single submitter
DARS2 p.Arg336His Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Arg428Lys Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Arg456Leu Uncertain significance Single submitter
DARS2 p.Arg542Gln Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Arg550His Uncertain significance Single submitter
DARS2 p.Asn307Thr Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Asn407Ser Uncertain significance Single submitter
DARS2 p.Asp461Glu Uncertain significance Single submitter
DARS2 p.Asp528Val Uncertain significance Single submitter
DARS2 p.Asp560Ala Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Asp560Val Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Asp87Tyr Uncertain significance Single submitter
DARS2 p.Cys459Arg Uncertain significance Single submitter
DARS2 p.Glu109Gly Uncertain significance Single submitter
DARS2 p.Glu199Asp Uncertain significance Single submitter
DARS2 p.Glu435Asp Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gly254Asp Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gly27Ser Uncertain significance Single submitter
DARS2 p.Gly375Glu Uncertain significance Single submitter
DARS2 p.Gly610Arg Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.His445Asn Uncertain significance Single submitter
DARS2 p.His502Asp Uncertain significance Single submitter
DARS2 p.His513Pro Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.His578Pro Uncertain significance Single submitter
DARS2 p.His611Arg Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ile18Met Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ile512Val Uncertain significance Single submitter
DARS2 p.Ile543Asn Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ile631Asn Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Leu171Ser Uncertain significance Single submitter
DARS2 p.Leu239Pro Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu250Val Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu29Arg Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu356Arg Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Leu360His Uncertain significance Single submitter
DARS2 p.Leu429Val Uncertain significance Single submitter
DARS2 p.Leu475Val Uncertain significance Single submitter
DARS2 p.Leu564Pro Uncertain significance Single submitter
DARS2 p.Leu57Trp Uncertain significance Single submitter
DARS2 p.Lys142Glu Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Lys154Gln Uncertain significance Single submitter
DARS2 p.Lys154Glu Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Lys521Asn Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Met251Ile Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Met285Ile Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Met614Thr Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Phe246Leu Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Phe321Ser Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Phe3Cys Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Pro4Arg Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Pro622Ser Uncertain significance Single submitter
DARS2 p.Ser59Leu Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ser639Ala Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Thr136Lys Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Tyr11His Uncertain significance Single submitter
DARS2 p.Tyr200His Uncertain significance Single submitter
DARS2 p.Tyr265His Uncertain significance Single submitter
DARS2 p.Val116Leu Uncertain significance Single submitter
DARS2 p.Val621Ile Uncertain significance Single submitter

Predictors split 89

The independent predictors disagree with each other — read with care.

DARS2 p.Ala262Val Likely pathogenic Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Arg31Gly Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Arg381Met Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Arg50Gln Uncertain significance Multiple submitters
DARS2 p.Arg609Trp Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Asp461Tyr Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Cys459Gly Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Glu158Val Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gly338Glu Benign Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu201Phe Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Leu497Pro Uncertain significance Multiple submitters
DARS2 p.Leu548Met Benign/Likely benign Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Lys490Glu Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Phe157Ile Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Pro373His Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Ser36Gly Uncertain significance Multiple submitters
DARS2 p.Thr136Ser Uncertain significance Multiple submitters
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Thr474Ile Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Val621Ala Uncertain significance Multiple submitters
Inborn genetic diseases
DARS2 p.Ala168Val Uncertain significance Single submitter
DARS2 p.Ala322Val Uncertain significance Single submitter
DARS2 p.Ala359Val Uncertain significance Single submitter
DARS2 p.Ala603Ser Uncertain significance Single submitter
DARS2 p.Arg170Gln Uncertain significance Single submitter
DARS2 p.Arg188Gln Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Arg20Met Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Arg218Trp Uncertain significance Single submitter
DARS2 p.Arg471His Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Arg523Cys Uncertain significance Single submitter
DARS2 p.Arg523His Uncertain significance Single submitter
DARS2 p.Arg58His Conflicting Single submitter
Inborn genetic diseases
DARS2 p.Asn52Ser Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Asn545Tyr Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Asp343Gly Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Cys590Gly Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gln184Lys Likely pathogenic Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gln294Arg Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Gln96Arg Uncertain significance Single submitter
DARS2 p.Glu158Gln Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Glu464Gln Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Glu496Asp Uncertain significance Single submitter
DARS2 p.Glu98Lys Uncertain significance Single submitter
DARS2 p.Gly128Arg Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gly206Glu Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gly221Glu Uncertain significance Single submitter
DARS2 p.Gly254Ser Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gly338Val Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Gly610Ala Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Gly63Asp Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.His364Pro Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ile139Thr Conflicting Single submitter
spastic ataxia
DARS2 p.Ile297Met Uncertain significance Single submitter
DARS2 p.Ile297Thr Uncertain significance Single submitter
DARS2 p.Ile353Thr Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ile370Met Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ile602Val Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Ile631Val Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Leu10Pro Uncertain significance Single submitter
DARS2 p.Leu169Phe Conflicting Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu249Ile Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu404Pro Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Leu486Val Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu556Phe Uncertain significance Single submitter
DARS2 p.Leu588Met Uncertain significance Single submitter
DARS2 p.Leu613Phe Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu626Gln Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Leu626Val Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Lys104Asn Uncertain significance Single submitter
DARS2 p.Lys105Met Uncertain significance Single submitter
DARS2 p.Lys340Gln Uncertain significance Single submitter
DARS2 p.Met319Val Conflicting Single submitter
Inborn genetic diseases
DARS2 p.Pro126Ser Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Pro494Arg Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ser15Phe Likely benign Single submitter
DARS2 p.Ser386Phe Uncertain significance Single submitter
DARS2 p.Ser386Tyr Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Ser565Phe Uncertain significance Single submitter
DARS2 p.Ser597Gly Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Ser99Leu Uncertain significance Single submitter
DARS2 p.Thr136Ala Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Thr22Ile Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Thr67Asn Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Thr67Ile Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Tyr328Cys Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Tyr629Cys Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Val530Ile Uncertain significance Single submitter
leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
DARS2 p.Val561Leu Uncertain significance Single submitter
Inborn genetic diseases
DARS2 p.Arg336Cys Pathogenic No assertion criteria
Charcot-Marie-Tooth disease, axonal, type 2LL
DARS2 p.Pro503Leu Pathogenic No assertion criteria
Charcot-Marie-Tooth disease, axonal, type 2LL

All DARS2 variants

Pathogenic 29

c.228-21_228-20delinsC Multiple submitters Cerebral cortical atrophy
c.492+2T>C Multiple submitters Sensorimotor neuropathy
p.Arg263Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg456Ter Multiple submitters Possible mitochondrial disorder - nuclear genes
p.Cys152Phe Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Glu518Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Gly467fs Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1675-1256_*115delinsGCAACATTTCGGCAACATTCCAACC Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg190fs Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Asn78fs Single submitter spastic ataxia
p.Cys54fs Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Glu425fs Single submitter
p.Gly338fs Single submitter
p.Ile399fs Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ile41fs Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Leu178_Arg179insTer Single submitter
p.Leu356fs Single submitter
p.Leu451fs Single submitter
p.Leu7Ter Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Pro243fs Single submitter
p.Ser238Phe Single submitter Charcot-Marie-Tooth disease, axonal, type 2LL
p.Ser304fs Single submitter
p.Ser37fs Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ser477fs Single submitter
p.Tyr2Ter Single submitter
p.Arg336Cys No assertion criteria Charcot-Marie-Tooth disease, axonal, type 2LL ⚠
p.Ile25fs No assertion criteria Charcot-Marie-Tooth disease, axonal, type 2LL
p.Pro503Leu No assertion criteria Charcot-Marie-Tooth disease, axonal, type 2LL ⚠
p.Ser45Gly No assertion criteria leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠

Pathogenic/Likely pathogenic 17

c.228-15C>A Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-16C>A Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.397-2A>G Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ala392fs Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg179His Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg188Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg263Gln Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg266Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg58Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg75Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Gln248Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Gln275Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Glu98Asp Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu187fs Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Leu588Val Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Lys362fs Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Pro317fs Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Likely pathogenic 27

c.493-1G>C Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ala262Val Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Gly365fs Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Leu452Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Trp480Ter Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.128-1G>T Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.227+1G>A Single submitter
c.228-11C>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-15C>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-22T>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.294+2_294+7del Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.294+2T>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.492+1G>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.492+2T>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.492+2T>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg174His Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg274fs Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Arg349fs Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Gln184Lys Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu176Ser Single submitter
p.Lys332Glu Single submitter
p.Met1Leu Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Phe86= Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ser540Ter Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Tyr30Ter Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ala151Asp No assertion criteria leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu568Phe No assertion criteria leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Conflicting classifications of pathogenicity 34

c.127+1G>A Single submitter Inborn genetic diseases
c.128-4A>T Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1750+11T>C Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-10C>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-10C>T Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-13C>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-14C>G Single submitter
c.228-16C>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-17C>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-20del Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-21T>C Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.396+2T>G Single submitter Inborn genetic diseases
p.Ala151Ser Single submitter Inborn genetic diseases ⚠
p.Arg179Cys Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg188Gln Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg58His Single submitter Inborn genetic diseases ⚠
p.Asp586= Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Asp87= Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Asp87Asn Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Asp87Gly Single submitter Inborn genetic diseases ⚠
p.Gly128Arg Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Gly254Ser Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Gly63Asp Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.His394= Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.His501Tyr Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Ile139Thr Single submitter spastic ataxia ⚠
p.Leu169Phe Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu189= Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Leu250Pro Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Lys520Gln Single submitter Inborn genetic diseases ⚠
p.Met183Ile Single submitter Inborn genetic diseases ⚠
p.Met319Val Single submitter Inborn genetic diseases ⚠
p.Phe484Leu Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Val481Met Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠

Benign 51

c.1021-48A>G Multiple submitters
c.1128+128A>G Multiple submitters
c.1129-109T>C Multiple submitters
c.1129-143C>T Multiple submitters
c.127+94ATT[10] Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1675-112T>G Multiple submitters
c.1750+19T>G Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1750+40T>C Multiple submitters
c.227+28G>T Multiple submitters
c.227+29C>T Multiple submitters
c.228-10del Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-12C>G Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-20T>C Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.397-6T>G Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.493-3T>C Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.*210T>C Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Gly338Glu Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Lys196Arg Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1129-11del Single submitter
c.1192-29dup Single submitter
c.127+303C>T Single submitter
c.127+94ATT[13] Single submitter
c.127+94ATT[14] Single submitter
c.127+94ATT[15] Single submitter
c.127+94ATT[16] Single submitter
c.127+94ATT[9] Single submitter
c.128-5dup Single submitter
c.1344+142dup Single submitter
c.1344+294T>A Single submitter
c.1345-266A>G Single submitter
c.1675-137A>G Single submitter
c.227+245A>G Single submitter
c.228-11_228-10dup Single submitter
c.228-245T>C Single submitter
c.294+215A>G Single submitter
c.295-12dup Single submitter
c.396+312C>T Single submitter
c.493-306C>T Single submitter
c.493-77del Single submitter
c.663+225_663+226insC Single submitter
c.663+226T>A Single submitter
c.663+226T>C Single submitter
c.663+263G>T Single submitter
c.663+279del Single submitter
c.663+279dup Single submitter
c.770+242dup Single submitter
c.771-171C>T Single submitter
c.840+165del Single submitter
c.128-22del No assertion criteria
c.128-5del No assertion criteria
c.227+28_227+29delinsTT No assertion criteria

Benign/Likely benign 7

c.128-5T>A Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-10dup Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-19C>T Multiple submitters
c.228-21_228-20insC Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.663+8T>C Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Leu548Met Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Val194Ile Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

Likely benign 141

c.128-21T>C Multiple submitters
c.1345-16C>T Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1674+127C>G Multiple submitters
c.228-15C>T Multiple submitters
c.664-17_664-14del Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ala101= Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Leu255= Multiple submitters
p.Leu564= Multiple submitters
p.Ser28= Multiple submitters
p.Ser499= Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Val313= Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1021-10C>T Single submitter
c.1021-16G>T Single submitter
c.1128+20_1128+21del Single submitter
c.1128+59C>T Single submitter
c.1129-16A>C Single submitter
c.1129-263del Single submitter
c.1129-308_1129-299del Single submitter
c.1192-13_1192-12del Single submitter
c.1192-19G>T Single submitter
c.1192-20A>G Single submitter
c.1192-28del Single submitter
c.1192-308G>A Single submitter
c.127+172G>T Single submitter
c.127+20C>A Single submitter
c.127+24_127+28del Single submitter
c.127+27A>G Single submitter
c.127+88dup Single submitter
c.127+92_127+93insTATTATTATTAT Single submitter
c.127+92_127+93insTATTATTATTATTAT Single submitter
c.128-16T>C Single submitter
c.128-17T>C Single submitter
c.128-18T>C Single submitter
c.128-19T>C Single submitter
c.128-6_128-5dup Single submitter
c.128-7_128-5dup Single submitter
c.128-7T>A Single submitter
c.1344+12T>C Single submitter
c.1344+1365T>C Single submitter
c.1344+141_1344+142dup Single submitter
c.1344+142del Single submitter
c.1344+17C>A Single submitter
c.1345-15G>A Single submitter
c.1345-16_1345-15insTCAAT Single submitter
c.1345-18T>A Single submitter
c.1563+12A>G Single submitter
c.1563+14A>G Single submitter
c.1564-13G>A Single submitter
c.1674+10A>G Single submitter
c.1674+11T>A Single submitter
c.1674+15C>G Single submitter
c.1674+17G>A Single submitter
c.1751-18T>C Single submitter
c.228-10_228-9insCA Single submitter
c.228-11C>A Single submitter
c.228-11C>T Single submitter
c.228-12_228-11insA Single submitter
c.228-14C>T Single submitter
c.228-17C>A Single submitter
c.228-18_228-17insA Single submitter
c.228-18C>G Single submitter
c.228-18C>T Single submitter
c.228-20_228-18del Single submitter
c.228-20_228-19insTC Single submitter
c.228-20delinsCC Single submitter
c.228-20dup Single submitter
c.228-9dup Single submitter
c.294+10A>T Single submitter
c.294+6_294+12dup Single submitter
c.295-11T>G Single submitter
c.295-9G>T Single submitter
c.396+18T>C Single submitter
c.396+20T>A Single submitter
c.396+57G>C Single submitter
c.397-16_397-13del Single submitter
c.397-42C>T Single submitter
c.397-5C>T Single submitter
c.397-6_397-5del Single submitter
c.397-7C>G Single submitter
c.493-12C>T Single submitter
c.493-16C>T Single submitter
c.616+16G>A Single submitter
c.663+14T>C Single submitter
c.663+19T>C Single submitter
c.770+14A>G Single submitter
c.770+19A>G Single submitter
c.770+242del Single submitter
c.771-19T>C Single submitter
c.840+13A>G Single submitter
c.841-40T>C Single submitter
c.841-7G>A Single submitter
c.841-9T>C Single submitter
c.*642C>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ala223= Single submitter
p.Ala359= Single submitter
p.Ala391= Single submitter
p.Ala442= Single submitter
p.Ala460= Single submitter
p.Arg266= Single submitter
p.Arg274= Single submitter
p.Arg466= Single submitter
p.Arg58= Single submitter
p.Asn307Ser Single submitter Inborn genetic diseases
p.Asn389= Single submitter
p.Asn405= Single submitter
p.Asn405Lys Single submitter Inborn genetic diseases
p.Asn545= Single submitter
p.Asp358= Single submitter
p.Asp600= Single submitter
p.Glu284= Single submitter
p.Glu298= Single submitter
p.Gly253= Single submitter
p.Gly574= Single submitter
p.His364= Single submitter
p.His611= Single submitter
p.His645= Single submitter
p.Leu10= Single submitter
p.Leu171= Single submitter
p.Leu187= Single submitter
p.Leu557= Single submitter
p.Leu568= Single submitter
p.Leu62= Single submitter
p.Phe157= Single submitter
p.Phe162= Single submitter
p.Pro24= Single submitter
p.Pro317= Single submitter
p.Pro473= Single submitter
p.Ser15Phe Single submitter ⚠
p.Ser37= Single submitter
p.Ser595= Single submitter
p.Ser99= Single submitter
p.Thr474Ala Single submitter Inborn genetic diseases
p.Thr517= Single submitter
p.Thr67= Single submitter
p.Val115= Single submitter
p.Val324= Single submitter
p.Val438= Single submitter
c.1192-28C>A No assertion criteria
c.1192-29_1192-28del No assertion criteria
c.128-6_128-5del No assertion criteria
p.Tyr265= No assertion criteria DARS2-related disorder

Uncertain significance 189

c.1563+5C>T Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-12C>A Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.228-21_228-20delinsCC Multiple submitters
p.Ala448Val Multiple submitters ⚠
p.Ala554Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg125His Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg170Trp Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg31Gly Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg381Met Multiple submitters Inborn genetic diseases ⚠
p.Arg50Gln Multiple submitters ⚠
p.Arg609Trp Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Asn416Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp461Tyr Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Cys459Gly Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Cys590Arg Multiple submitters Inborn genetic diseases ⚠
p.Cys590Ser Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Gln248Lys Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Glu158Val Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Glu277Lys Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.His445Tyr Multiple submitters ⚠
p.Leu201Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu204Val Multiple submitters Inborn genetic diseases ⚠
p.Leu486Phe Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu497Pro Multiple submitters ⚠
p.Lys490Glu Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Met419Val Multiple submitters Inborn genetic diseases ⚠
p.Phe157Ile Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Phe355Ile Multiple submitters Inborn genetic diseases ⚠
p.Phe478Ser Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Pro373His Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Pro576Ser Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Ser15Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser36Gly Multiple submitters ⚠
p.Thr136Ser Multiple submitters leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Thr474Ile Multiple submitters Inborn genetic diseases ⚠
p.Tyr30Cys Multiple submitters Inborn genetic diseases ⚠
p.Val414Ala Multiple submitters Inborn genetic diseases ⚠
p.Val621Ala Multiple submitters Inborn genetic diseases ⚠
c.1020+6T>G Single submitter
c.1128+3_1128+6dup Single submitter Inborn genetic diseases
c.1192-2A>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1345-17_1345-5del Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.1345-5T>G Single submitter
c.228-10C>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.492+4C>T Single submitter
c.-147A>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.-219C>T Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.-488G>C Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.-522G>C Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.-533G>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.-543C>T Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.*152A>C Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.*168C>T Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.*431G>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.*587G>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.*644G>A Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
c.*653T>G Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Ala110Thr Single submitter Inborn genetic diseases ⚠
p.Ala127Val Single submitter ⚠
p.Ala168Gly Single submitter Inborn genetic diseases ⚠
p.Ala168Val Single submitter ⚠
p.Ala223Gly Single submitter ⚠
p.Ala322Val Single submitter ⚠
p.Ala359Val Single submitter ⚠
p.Ala391Val Single submitter Inborn genetic diseases ⚠
p.Ala448= Single submitter
p.Ala582Thr Single submitter ⚠
p.Ala603Ser Single submitter ⚠
p.Arg170Gln Single submitter ⚠
p.Arg198Trp Single submitter ⚠
p.Arg19Ser Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg20Met Single submitter Inborn genetic diseases ⚠
p.Arg218Trp Single submitter ⚠
p.Arg257Gly Single submitter ⚠
p.Arg266Gln Single submitter ⚠
p.Arg336His Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg428Lys Single submitter Inborn genetic diseases ⚠
p.Arg456Leu Single submitter ⚠
p.Arg471His Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Arg523Cys Single submitter ⚠
p.Arg523His Single submitter ⚠
p.Arg542Gln Single submitter Inborn genetic diseases ⚠
p.Arg550His Single submitter ⚠
p.Asn307Thr Single submitter Inborn genetic diseases ⚠
p.Asn407Ser Single submitter ⚠
p.Asn52Ser Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Asn545Tyr Single submitter Inborn genetic diseases ⚠
p.Asp343Gly Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Asp461Glu Single submitter ⚠
p.Asp528Val Single submitter ⚠
p.Asp560Ala Single submitter Inborn genetic diseases ⚠
p.Asp560Val Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Asp87Tyr Single submitter ⚠
p.Cys459Arg Single submitter ⚠
p.Cys590Gly Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Gln294Arg Single submitter Inborn genetic diseases ⚠
p.Gln96Arg Single submitter ⚠
p.Glu109Gly Single submitter ⚠
p.Glu158Gln Single submitter Inborn genetic diseases ⚠
p.Glu199Asp Single submitter ⚠
p.Glu425Ter Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Glu435Asp Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Glu464Gln Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Glu496Asp Single submitter ⚠
p.Glu98Lys Single submitter ⚠
p.Gly206Glu Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Gly221Glu Single submitter ⚠
p.Gly254Asp Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Gly27Ser Single submitter ⚠
p.Gly338Val Single submitter Inborn genetic diseases ⚠
p.Gly375Glu Single submitter ⚠
p.Gly610Ala Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Gly610Arg Single submitter Inborn genetic diseases ⚠
p.His364Pro Single submitter Inborn genetic diseases ⚠
p.His445Asn Single submitter ⚠
p.His502Asp Single submitter ⚠
p.His513Pro Single submitter Inborn genetic diseases ⚠
p.His578Pro Single submitter ⚠
p.His611Arg Single submitter Inborn genetic diseases ⚠
p.Ile18= Single submitter
p.Ile18Met Single submitter Inborn genetic diseases ⚠
p.Ile297Met Single submitter ⚠
p.Ile297Thr Single submitter ⚠
p.Ile353Thr Single submitter Inborn genetic diseases ⚠
p.Ile370Met Single submitter Inborn genetic diseases ⚠
p.Ile512Val Single submitter ⚠
p.Ile543Asn Single submitter Inborn genetic diseases ⚠
p.Ile602Val Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Ile631Asn Single submitter Inborn genetic diseases ⚠
p.Ile631Val Single submitter Inborn genetic diseases ⚠
p.Leu10Pro Single submitter ⚠
p.Leu171Ser Single submitter ⚠
p.Leu239Pro Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu249Ile Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu250Val Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu29Arg Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu356Arg Single submitter Inborn genetic diseases ⚠
p.Leu360His Single submitter ⚠
p.Leu404Pro Single submitter Inborn genetic diseases ⚠
p.Leu429Val Single submitter ⚠
p.Leu463del Single submitter
p.Leu475Val Single submitter ⚠
p.Leu486Val Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu556Phe Single submitter ⚠
p.Leu564Pro Single submitter ⚠
p.Leu57Trp Single submitter ⚠
p.Leu588Met Single submitter ⚠
p.Leu613Phe Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu626Gln Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Leu626Val Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Lys104Asn Single submitter ⚠
p.Lys105Met Single submitter ⚠
p.Lys142Glu Single submitter Inborn genetic diseases ⚠
p.Lys154Gln Single submitter ⚠
p.Lys154Glu Single submitter Inborn genetic diseases ⚠
p.Lys340Gln Single submitter ⚠
p.Lys521Asn Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Met251Ile Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Met285Ile Single submitter Inborn genetic diseases ⚠
p.Met614Thr Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Phe246Leu Single submitter Inborn genetic diseases ⚠
p.Phe278= Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
p.Phe321Ser Single submitter Inborn genetic diseases ⚠
p.Phe3Cys Single submitter Inborn genetic diseases ⚠
p.Pro126Ser Single submitter Inborn genetic diseases ⚠
p.Pro494Arg Single submitter Inborn genetic diseases ⚠
p.Pro4Arg Single submitter Inborn genetic diseases ⚠
p.Pro622Ser Single submitter ⚠
p.Ser386Phe Single submitter ⚠
p.Ser386Tyr Single submitter Inborn genetic diseases ⚠
p.Ser565Phe Single submitter ⚠
p.Ser597Gly Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Ser59Leu Single submitter Inborn genetic diseases ⚠
p.Ser639Ala Single submitter Inborn genetic diseases ⚠
p.Ser99Leu Single submitter ⚠
p.Thr136Ala Single submitter Inborn genetic diseases ⚠
p.Thr136Lys Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Thr22Ile Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Thr67Asn Single submitter Inborn genetic diseases ⚠
p.Thr67Ile Single submitter Inborn genetic diseases ⚠
p.Tyr11His Single submitter ⚠
p.Tyr200His Single submitter ⚠
p.Tyr265His Single submitter ⚠
p.Tyr328Cys Single submitter Inborn genetic diseases ⚠
p.Tyr629Cys Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Val116Leu Single submitter ⚠
p.Val530Ile Single submitter leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome ⚠
p.Val561Leu Single submitter Inborn genetic diseases ⚠
p.Val621Ile Single submitter ⚠