AARS2 — 695 ClinVar variants

All ClinVar germline AARS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 313 flagged for review →

31 Pathogenic · 7 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 46 Conflicting · 60 Benign · 14 Benign/Likely benign · 190 Likely benign · 315 Uncertain significance

Full AARS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 313

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.

AARS2 p.Arg199Cys Pathogenic/Likely pathogenic Multiple submitters
Cardiovascular phenotype
AARS2 p.Arg580Trp Likely pathogenic Multiple submitters
AARS2 p.Arg592Trp Pathogenic/Likely pathogenic Multiple submitters
AARS2-related disorder
AARS2 p.Ile328Met Likely pathogenic Single submitter
AARS2 p.Pro60His Pathogenic Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Ser282Cys Pathogenic No assertion criteria
combined oxidative phosphorylation defect type 8

Predictors agree, ClinVar conflicts 12

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

AARS2 p.Ala178Val Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Ala320Val Conflicting Single submitter
AARS2 p.Ala398Thr Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Arg482Gln Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Arg611Gln Conflicting Single submitter
AARS2 p.Arg812Gln Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Asn399His Conflicting Single submitter
AARS2 p.Asp512His Conflicting Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Gln785Glu Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Glu314Lys Conflicting Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Ile824Thr Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Ser361Phe Conflicting Single submitter
combined oxidative phosphorylation defect type 8

Predictors lean, ClinVar uncertain 101

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

AARS2 p.Ala386Val Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Ala737Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ala740Val Uncertain significance Multiple submitters
AARS2 p.Ala9Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg123Leu Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg308Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg316His Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg57Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg806Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg854His Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Arg901Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Gly415Asp Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Gly569Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Gly932Ser Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.His732Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ile766Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
AARS2 p.Leu180Pro Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Lys460Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Phe74Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ser170Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Val507Leu Uncertain significance Multiple submitters
AARS2 p.Val586Met Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Val885Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ala152Asp Uncertain significance Single submitter
AARS2-related disorder
AARS2 p.Ala15Thr Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala36Thr Uncertain significance Single submitter
AARS2 p.Ala437Asp Uncertain significance Single submitter
AARS2 p.Ala498Thr Uncertain significance Single submitter
AARS2 p.Ala591Thr Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg10Gly Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg272Ser Uncertain significance Single submitter
AARS2 p.Arg301Lys Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg301Ser Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg322His Uncertain significance Single submitter
AARS2 p.Arg421Gln Uncertain significance Single submitter
AARS2 p.Arg521Gln Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg580Gln Uncertain significance Single submitter
AARS2 p.Arg625Cys Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Arg67Pro Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg826Gln Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg842Gln Uncertain significance Single submitter
AARS2 p.Arg842Trp Uncertain significance Single submitter
AARS2 p.Arg853Gln Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg860His Uncertain significance Single submitter
AARS2 p.Arg901Gly Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Asn294Asp Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Asn294Ser Uncertain significance Single submitter
AARS2 p.Asp117Glu Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Asp183His Uncertain significance Single submitter
AARS2 p.Asp735Glu Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Asp886Glu Uncertain significance Single submitter
AARS2 p.Cys218Ser Uncertain significance Single submitter
AARS2 p.Cys750Arg Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gln158Lys Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Gln503Arg Uncertain significance Single submitter
AARS2 p.Gln669Lys Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Glu363Asp Uncertain significance Single submitter
AARS2 p.Glu470Gln Uncertain significance Single submitter
AARS2 p.Gly529Ala Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gly761Arg Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gly881Arg Uncertain significance Single submitter
Cardiovascular phenotype
AARS2 p.Gly965Arg Uncertain significance Single submitter
leukoencephalopathy, progressive, with ovarian failure
AARS2 p.Ile224Asn Uncertain significance Single submitter
AARS2 p.Ile600Val Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Leu134Pro Uncertain significance Single submitter
AARS2 p.Leu228Phe Uncertain significance Single submitter
AARS2 p.Leu350Pro Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Leu400Pro Uncertain significance Single submitter
AARS2 p.Leu601Val Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Leu637Gln Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Lys880Thr Uncertain significance Single submitter
Cardiovascular phenotype
AARS2 p.Met343Thr Uncertain significance Single submitter
AARS2 p.Met696Leu Uncertain significance Single submitter
AARS2 p.Met950Ile Uncertain significance Single submitter
AARS2 p.Phe86Leu Uncertain significance Single submitter
Cardiovascular phenotype
AARS2 p.Pro205Leu Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Pro217Ser Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Pro29Ser Uncertain significance Single submitter
AARS2 p.Pro346Thr Uncertain significance Single submitter
AARS2 p.Pro34Ala Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Pro607Ser Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ser202Pro Uncertain significance Single submitter
AARS2 p.Ser332Asn Uncertain significance Single submitter
leukoencephalopathy, progressive, with ovarian failure
AARS2 p.Ser411Ala Uncertain significance Single submitter
AARS2 p.Ser4Thr Uncertain significance Single submitter
AARS2 p.Ser879Leu Uncertain significance Single submitter
AARS2 p.Ser879Trp Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Ser975Gly Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Thr330Ile Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Thr330Lys Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Thr382Ile Uncertain significance Single submitter
AARS2 p.Thr847Ala Uncertain significance Single submitter
AARS2 p.Thr910Arg Uncertain significance Single submitter
AARS2 p.Trp168Arg Uncertain significance Single submitter
AARS2 p.Val109Leu Uncertain significance Single submitter
AARS2 p.Val311Leu Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Val496Ile Uncertain significance Single submitter
AARS2 p.Val5Leu Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Val897Ala Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Val959Ala Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.His632Arg Uncertain significance No assertion criteria

Predictors split 194

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 194

AARS2 p.Ala275Val Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ala37Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ala566Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ala740Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
AARS2 p.Ala741Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ala802Val Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ala9Thr Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Arg101His Uncertain significance Multiple submitters
leukoencephalopathy, progressive, with ovarian failure
AARS2 p.Arg28Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg316Cys Uncertain significance Multiple submitters
AARS2 p.Arg356Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg359His Uncertain significance Multiple submitters
AARS2 p.Arg421Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg480Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg482Trp Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Arg504Leu Uncertain significance Multiple submitters
AARS2 p.Arg554His Likely benign Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Arg561Thr Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Arg611Trp Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg678Trp Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Arg711Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg711His Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg722Gln Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Arg756Cys Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Arg769Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
AARS2 p.Arg777Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg777His Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Arg806Trp Benign/Likely benign Multiple submitters
Inborn genetic diseases
AARS2 p.Arg877Trp Benign/Likely benign Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Asp227Asn Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Gln247Lys Uncertain significance Multiple submitters
AARS2 p.Gln906His Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Glu532Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Glu567Lys Uncertain significance Multiple submitters
AARS2 p.Gly140Glu Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Gly141Asp Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.His225Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
AARS2 p.Ile224Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
AARS2 p.Leu118Val Uncertain significance Multiple submitters
Cardiovascular phenotype
AARS2 p.Leu538Met Uncertain significance Multiple submitters
Cardiovascular phenotype
AARS2 p.Leu73Val Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Leu851Val Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Pro163Ser Uncertain significance Multiple submitters
mitochondrial disease
AARS2 p.Pro291Leu Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Pro303Thr Uncertain significance Multiple submitters
leukoencephalopathy, progressive, with ovarian failure
AARS2 p.Pro522Arg Uncertain significance Multiple submitters
AARS2 p.Pro736Leu Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Ser439Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Thr938Pro Uncertain significance Multiple submitters
mitochondrial disease
AARS2 p.Val323Met Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Val549Met Uncertain significance Multiple submitters
Inborn genetic diseases
AARS2 p.Val616Met Uncertain significance Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Val730Met Benign Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Val814Met Benign Multiple submitters
combined oxidative phosphorylation defect type 8
AARS2 p.Ala111Pro Uncertain significance Single submitter
AARS2 p.Ala152Gly Uncertain significance Single submitter
AARS2 p.Ala197Val Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala252Gly Uncertain significance Single submitter
AARS2 p.Ala295Ser Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala295Thr Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala2Thr Uncertain significance Single submitter
AARS2 p.Ala386Thr Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala395Pro Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala3Val Uncertain significance Single submitter
Cardiovascular phenotype
AARS2 p.Ala467Thr Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Ala477Val Uncertain significance Single submitter
AARS2 p.Ala545Val Uncertain significance Single submitter
AARS2 p.Ala623Val Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala6Thr Uncertain significance Single submitter
AARS2 p.Ala740Pro Uncertain significance Single submitter
Cardiovascular phenotype
AARS2 p.Ala759Val Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala789Ser Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Ala7Pro Uncertain significance Single submitter
AARS2 p.Ala815Val Uncertain significance Single submitter
AARS2 p.Ala867Ser Uncertain significance Single submitter
AARS2 p.Ala890Thr Uncertain significance Single submitter
AARS2 p.Ala8Ser Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Ala954Thr Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Ala954Val Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Arg100Gln Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg101Cys Uncertain significance Single submitter
AARS2 p.Arg123Gly Uncertain significance Single submitter
Cardiovascular phenotype
AARS2 p.Arg262Gln Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Arg322Cys Pathogenic Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Arg329Cys Conflicting Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Arg351His Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Arg355His Uncertain significance Single submitter
AARS2 p.Arg417Gln Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Arg417Trp Uncertain significance Single submitter
AARS2 p.Arg421Leu Uncertain significance Single submitter
AARS2 p.Arg471Trp Uncertain significance Single submitter
AARS2 p.Arg504His Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg554Cys Conflicting Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Arg575Cys Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg580Gly Uncertain significance Single submitter
AARS2 p.Arg625His Likely pathogenic Single submitter
AARS2 p.Arg65Trp Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg663His Uncertain significance Single submitter
AARS2 p.Arg722Trp Likely benign Single submitter
AARS2 p.Arg756His Uncertain significance Single submitter
AARS2 p.Arg769His Uncertain significance Single submitter
AARS2 p.Arg790Gln Uncertain significance Single submitter
AARS2 p.Arg790Gly Uncertain significance Single submitter
AARS2 p.Arg841Gln Conflicting Single submitter
mitochondrial disease
AARS2 p.Arg841Trp Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg860Cys Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Arg877Gln Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Arg901Trp Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Asn136Ser Uncertain significance Single submitter
AARS2 p.Asn563Tyr Uncertain significance Single submitter
leukoencephalopathy, progressive, with ovarian failure
AARS2 p.Asn76Ser Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Asp120Asn Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Asp430Gly Uncertain significance Single submitter
AARS2 p.Asp969Tyr Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Gln568Arg Uncertain significance Single submitter
Cardiovascular phenotype
AARS2 p.Gln615Pro Uncertain significance Single submitter
AARS2 p.Gln676Pro Pathogenic Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Gln788Glu Uncertain significance Single submitter
AARS2 p.Gln928Arg Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gln978His Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Glu142Lys Uncertain significance Single submitter
AARS2 p.Glu363Lys Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Glu405Lys Uncertain significance Single submitter
leukoencephalopathy, progressive, with ovarian failure
AARS2 p.Glu435Gly Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Glu459Gln Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Glu541Lys Conflicting Single submitter
Inborn genetic diseases
AARS2 p.Glu603Asp Uncertain significance Single submitter
AARS2 p.Glu791Lys Uncertain significance Single submitter
Cardiovascular phenotype
AARS2 p.Glu843Gly Uncertain significance Single submitter
AARS2 p.Glu891Lys Uncertain significance Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Gly231Arg Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gly254Ala Conflicting Single submitter
combined oxidative phosphorylation defect type 8
AARS2 p.Gly279Ser Uncertain significance Single submitter
AARS2 p.Gly310Val Uncertain significance Single submitter
AARS2 p.Gly524Arg Uncertain significance Single submitter
AARS2 p.Gly543Arg Uncertain significance Single submitter
AARS2 p.Gly552Asp Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gly556Val Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gly570Ser Uncertain significance Single submitter
AARS2 p.Gly598Ser Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gly767Arg Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gly783Ala Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Gly88Ser Uncertain significance Single submitter
AARS2 p.His115Leu Uncertain significance Single submitter
AARS2 p.His479Tyr Uncertain significance Single submitter
AARS2 p.Ile189Ser Uncertain significance Single submitter
AARS2 p.Ile296Met Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Leu156Val Uncertain significance Single submitter
Inborn genetic diseases
AARS2 p.Leu191Arg Uncertain significance Single submitter
AARS2 p.Leu201Phe Uncertain significance Single submitter

All AARS2 variants

Pathogenic 31

c.2255+1G>A Multiple submitters combined oxidative phosphorylation defect type 8
p.Arg521Ter Multiple submitters combined oxidative phosphorylation defect type 8
p.Cys218fs Multiple submitters combined oxidative phosphorylation defect type 8
p.Cys443Ter Multiple submitters
c.1040+1G>A Single submitter leukoencephalopathy, progressive, with ovarian failure
c.2007+1G>C Single submitter
c.2487+1G>C Single submitter combined oxidative phosphorylation defect type 8
p.Ala786Thr Single submitter combined oxidative phosphorylation defect type 8
p.Ala926fs Single submitter
p.Arg123Ter Single submitter
p.Arg322Cys Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Asp337Ter Single submitter
p.Gln568fs Single submitter
p.Gln676Pro Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Gln770Ter Single submitter AARS2-related disorder
p.Gln798fs Single submitter
p.Gln962Ter Single submitter combined oxidative phosphorylation defect type 8
p.Glu314fs Single submitter
p.Glu686fs Single submitter
p.Leu30fs Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Met151Thr Single submitter
p.Met920fs Single submitter
p.Pro60His Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Ser811fs Single submitter
p.Ser894Ter Single submitter
p.Thr871fs Single submitter
p.Trp624Ter Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Arg93Ter No assertion criteria combined oxidative phosphorylation defect type 8
p.Leu155Arg No assertion criteria combined oxidative phosphorylation defect type 8
p.Phe50Cys No assertion criteria leukoencephalopathy, progressive, with ovarian failure
p.Ser282Cys No assertion criteria combined oxidative phosphorylation defect type 8 ⚠

Pathogenic/Likely pathogenic 7

c.2146-2A>G Multiple submitters combined oxidative phosphorylation defect type 8
c.2598+1G>T Multiple submitters AARS2-related disorder
p.Arg199Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg592Trp Multiple submitters AARS2-related disorder ⚠
p.Gln261fs Multiple submitters leukoencephalopathy, progressive, with ovarian failure
p.Gly647fs Multiple submitters leukoencephalopathy, progressive, with ovarian failure
p.Phe131del Multiple submitters leukoencephalopathy, progressive, with ovarian failure

Likely pathogenic 32

p.Arg580Trp Multiple submitters ⚠
p.Arg958Ter Multiple submitters leukoencephalopathy, progressive, with ovarian failure
p.Thr782Ile Multiple submitters leukoencephalopathy, progressive, with ovarian failure
c.2255+5G>A Single submitter leukoencephalopathy, progressive, with ovarian failure
c.2256-2A>G Single submitter
c.2599-1G>A Single submitter combined oxidative phosphorylation defect type 8
c.2683-2A>G Single submitter
c.436-2A>C Single submitter AARS2-related disorder
c.(759+1_760-1 Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Ala39fs Single submitter
p.Arg100Ter Single submitter
p.Arg625His Single submitter ⚠
p.Arg826Ter Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Cys149Tyr Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Gln236fs Single submitter
p.Gln652Ter Single submitter Cardiovascular phenotype
p.Gln798Ter Single submitter
p.Gly174fs Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Gly78fs Single submitter AARS2-related disorder
p.Ile328Met Single submitter ⚠
p.Leu844Pro Single submitter combined oxidative phosphorylation defect type 8
p.Met1Thr Single submitter Inborn genetic diseases
p.Met268Ile Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Pro35fs Single submitter Cardiovascular phenotype
p.Thr129Pro Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Thr744fs Single submitter Cardiovascular phenotype
p.Trp153Ter Single submitter combined oxidative phosphorylation defect type 8
p.Tyr305fs Single submitter AARS2-related disorder
p.Tyr565Ter Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Val195fs Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Val264Met Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Val684fs Single submitter

Conflicting classifications of pathogenicity 46

c.1150-4C>G Single submitter Inborn genetic diseases
c.1434+7G>A Single submitter combined oxidative phosphorylation defect type 8
c.2146-11C>T Single submitter combined oxidative phosphorylation defect type 8
c.2598+11G>A Single submitter combined oxidative phosphorylation defect type 8
c.2683-10C>T Single submitter combined oxidative phosphorylation defect type 8
c.435+9C>T Single submitter combined oxidative phosphorylation defect type 8
c.750-5G>A Single submitter combined oxidative phosphorylation defect type 8
c.*9C>T Single submitter combined oxidative phosphorylation defect type 8
p.Ala178Val Single submitter Inborn genetic diseases ⚠
p.Ala320Val Single submitter ⚠
p.Ala398Thr Single submitter Inborn genetic diseases ⚠
p.Ala467Thr Single submitter Inborn genetic diseases ⚠
p.Ala954Val Single submitter Inborn genetic diseases ⚠
p.Arg262Gln Single submitter Inborn genetic diseases ⚠
p.Arg329Cys Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Arg351His Single submitter Inborn genetic diseases ⚠
p.Arg417Gln Single submitter Inborn genetic diseases ⚠
p.Arg482Gln Single submitter Inborn genetic diseases ⚠
p.Arg554Cys Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Arg611Gln Single submitter ⚠
p.Arg812Gln Single submitter Inborn genetic diseases ⚠
p.Arg841Gln Single submitter mitochondrial disease ⚠
p.Arg877Gln Single submitter Inborn genetic diseases ⚠
p.Arg901Trp Single submitter Inborn genetic diseases ⚠
p.Asn399His Single submitter ⚠
p.Asp511= Single submitter combined oxidative phosphorylation defect type 8
p.Asp512His Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Asp969Tyr Single submitter Inborn genetic diseases ⚠
p.Gln785Glu Single submitter Inborn genetic diseases ⚠
p.Glu314Lys Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Glu541Lys Single submitter Inborn genetic diseases ⚠
p.Gly254Ala Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Ile397= Single submitter combined oxidative phosphorylation defect type 8
p.Ile824Thr Single submitter Inborn genetic diseases ⚠
p.Leu12_Arg14del Single submitter leukoencephalopathy, progressive, with ovarian failure
p.Leu492= Single submitter combined oxidative phosphorylation defect type 8
p.Leu893= Single submitter combined oxidative phosphorylation defect type 8
p.Pro20= Single submitter combined oxidative phosphorylation defect type 8
p.Pro388Ser Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Pro908Ser Single submitter Inborn genetic diseases ⚠
p.Ser361Phe Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Ser523= Single submitter combined oxidative phosphorylation defect type 8
p.Thr910fs Single submitter
p.Thr979= Single submitter combined oxidative phosphorylation defect type 8
p.Val721Ala Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Val90Leu Single submitter combined oxidative phosphorylation defect type 8 ⚠

Benign 60

c.1041-29A>G Multiple submitters leukoencephalopathy, progressive, with ovarian failure
c.1189-16_1189-14del Multiple submitters
c.1753-13T>C Multiple submitters combined oxidative phosphorylation defect type 8
c.1753-14C>G Multiple submitters combined oxidative phosphorylation defect type 8
c.2007+8C>T Multiple submitters combined oxidative phosphorylation defect type 8
c.2255+35C>A Multiple submitters combined oxidative phosphorylation defect type 8
c.243+6G>A Multiple submitters leukoencephalopathy, progressive, with ovarian failure
c.2598+117G>C Multiple submitters leukoencephalopathy, progressive, with ovarian failure
c.2598+16G>T Multiple submitters
c.2683-20A>G Multiple submitters combined oxidative phosphorylation defect type 8
c.2793+86_2793+87insCAGA Multiple submitters combined oxidative phosphorylation defect type 8
c.581+16T>C Multiple submitters
c.749+14G>A Multiple submitters combined oxidative phosphorylation defect type 8
p.Asn294= Multiple submitters
p.Gly140= Multiple submitters combined oxidative phosphorylation defect type 8
p.Ile339= Multiple submitters
p.Ile339Val Multiple submitters leukoencephalopathy, progressive, with ovarian failure
p.Leu809Gln Multiple submitters combined oxidative phosphorylation defect type 8
p.Lys869= Multiple submitters leukoencephalopathy, progressive, with ovarian failure
p.Met850Val Multiple submitters combined oxidative phosphorylation defect type 8
p.Val730Met Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Val814Met Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
c.1041-23G>C Single submitter
c.1150-102T>A Single submitter
c.1150-182C>T Single submitter
c.1301-179G>T Single submitter
c.1301-23T>G Single submitter
c.1579+8C>A Single submitter
c.1753-54G>T Single submitter
c.2007+257C>T Single submitter
c.2007+45A>T Single submitter
c.2008-297C>T Single submitter
c.2146-24G>A Single submitter
c.2365-115G>C Single submitter
c.2365-11C>A Single submitter
c.244-281A>G Single submitter
c.2598+130_2598+132del Single submitter
c.2598+157C>T Single submitter
c.2598+227G>A Single submitter
c.436-140A>G Single submitter
c.436-31_436-30insT Single submitter
c.436-37G>A Single submitter
c.749+139T>C Single submitter
c.894+324A>G Single submitter
c.895-64C>A Single submitter
c.-41C>T Single submitter
c.*1300C>T Single submitter combined oxidative phosphorylation defect type 8
c.*1359A>G Single submitter combined oxidative phosphorylation defect type 8
c.*1473G>T Single submitter combined oxidative phosphorylation defect type 8
c.*149G>A Single submitter
c.*1576A>G Single submitter combined oxidative phosphorylation defect type 8
c.*1710G>T Single submitter combined oxidative phosphorylation defect type 8
c.*1719T>C Single submitter combined oxidative phosphorylation defect type 8
c.*341G>A Single submitter combined oxidative phosphorylation defect type 8
c.*343G>A Single submitter combined oxidative phosphorylation defect type 8
c.*366T>C Single submitter combined oxidative phosphorylation defect type 8
c.*423G>A Single submitter combined oxidative phosphorylation defect type 8
c.*926C>T Single submitter combined oxidative phosphorylation defect type 8
p.Gln852= Single submitter
p.Ser957= Single submitter

Benign/Likely benign 14

c.895-16C>T Multiple submitters
p.Arg471Gln Multiple submitters leukoencephalopathy, progressive, with ovarian failure
p.Arg678Gln Multiple submitters combined oxidative phosphorylation defect type 8
p.Arg806Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg877Trp Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Asn399Ser Multiple submitters combined oxidative phosphorylation defect type 8
p.Asp287Glu Multiple submitters leukoencephalopathy, progressive, with ovarian failure
p.Gln391= Multiple submitters
p.Gln984His Multiple submitters Inborn genetic diseases
p.Glu584= Multiple submitters leukoencephalopathy, progressive, with ovarian failure
p.Gly751= Multiple submitters combined oxidative phosphorylation defect type 8
p.Leu520= Multiple submitters
p.Ser466= Multiple submitters combined oxidative phosphorylation defect type 8
p.Tyr226= Multiple submitters

Likely benign 190

c.1580-48C>T Multiple submitters
c.2007+9G>A Multiple submitters
c.2008-44G>A Multiple submitters
c.243+151G>A Multiple submitters
c.243+19T>C Multiple submitters
c.243+209G>A Multiple submitters
c.244-7C>T Multiple submitters
c.2598+9_2598+11del Multiple submitters
c.2682+18C>T Multiple submitters
c.2683-9G>A Multiple submitters
c.2794-143G>A Multiple submitters
c.435+150T>G Multiple submitters
c.-1G>C Multiple submitters
p.Ala44= Multiple submitters
p.Ala815= Multiple submitters
p.Arg322= Multiple submitters
p.Arg554His Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Asn116= Multiple submitters
p.Asp585= Multiple submitters
p.Gly427= Multiple submitters
p.Gly550Ala Multiple submitters Inborn genetic diseases
p.His54= Multiple submitters
p.Leu450= Multiple submitters
p.Met362Leu Multiple submitters combined oxidative phosphorylation defect type 8
p.Phe528= Multiple submitters Inborn genetic diseases
p.Phe588= Multiple submitters
p.Thr910= Multiple submitters
p.Val349= Multiple submitters
p.Val699= Multiple submitters
c.1040+10G>C Single submitter
c.1040+28C>T Single submitter
c.1149+14T>G Single submitter
c.1149+8C>T Single submitter
c.1150-13C>T Single submitter
c.1150-18C>T Single submitter
c.1188+16G>A Single submitter
c.1189-11G>C Single submitter
c.1189-18C>A Single submitter
c.1189-5T>G Single submitter
c.1300+9G>T Single submitter
c.1301-13T>G Single submitter
c.1434+14C>T Single submitter
c.1434+19C>T Single submitter
c.1435-13G>A Single submitter
c.1435-14T>C Single submitter
c.1752+8_1752+9del Single submitter
c.1753-10C>G Single submitter
c.1753-6C>T Single submitter
c.1866+12C>T Single submitter
c.1867-12A>G Single submitter
c.1867-13A>C Single submitter
c.1867-6T>G Single submitter
c.2007+200C>T Single submitter
c.2008-11C>G Single submitter
c.2008-7C>A Single submitter
c.2008-7C>G Single submitter
c.2008-81A>C Single submitter
c.2008-9C>A Single submitter
c.2146-14C>T Single submitter
c.2255+12C>T Single submitter
c.2255+7C>T Single submitter
c.2256-51C>G Single submitter
c.2364+111T>C Single submitter
c.2364+19C>G Single submitter
c.2364+55C>T Single submitter
c.2365-10C>T Single submitter
c.2365-16T>C Single submitter
c.2365-87C>T Single submitter
c.244-13T>C Single submitter
c.2487+11C>T Single submitter
c.2488-101A>G Single submitter
c.2488-16C>T Single submitter
c.2488-19G>A Single submitter
c.2598+10G>T Single submitter
c.2599-221A>G Single submitter
c.2682+10A>T Single submitter
c.2682+27C>T Single submitter
c.2682+31G>C Single submitter
c.2683-13T>C Single submitter
c.2683-45G>C Single submitter
c.2793+105G>A Single submitter
c.2793+191A>C Single submitter
c.2793+20A>G Single submitter
c.435+224A>C Single submitter
c.436-164A>G Single submitter
c.436-4G>T Single submitter
c.436-92G>C Single submitter
c.582-16C>G Single submitter
c.582-17C>G Single submitter
c.582-6C>T Single submitter
c.582-8C>T Single submitter
c.749+136C>A Single submitter
c.749+17G>A Single submitter
c.750-12T>C Single submitter
c.750-200A>G Single submitter
c.750-7T>C Single submitter
c.750-81del Single submitter
c.894+16_894+20del Single submitter
c.894+257T>A Single submitter
c.895-253C>T Single submitter
c.895-331T>G Single submitter
c.*1007A>G Single submitter combined oxidative phosphorylation defect type 8
p.Ala21= Single submitter
p.Ala320= Single submitter
p.Ala498= Single submitter
p.Ala630= Single submitter
p.Ala740= Single submitter
p.Ala741= Single submitter
p.Ala802= Single submitter
p.Ala834= Single submitter
p.Arg10Gln Single submitter
p.Arg417= Single submitter
p.Arg480= Single submitter
p.Arg482= Single submitter
p.Arg554= Single submitter
p.Arg561= Single submitter
p.Arg711= Single submitter
p.Arg722Trp Single submitter ⚠
p.Asn242= Single submitter
p.Asn517Ser Single submitter Inborn genetic diseases
p.Asp188= Single submitter
p.Asp404= Single submitter
p.Asp52= Single submitter
p.Asp542= Single submitter
p.Gln503= Single submitter
p.Glu686= Single submitter
p.Glu799= Single submitter
p.Gly213= Single submitter
p.Gly219= Single submitter
p.Gly529= Single submitter
p.Gly543= Single submitter
p.Gly570= Single submitter
p.Gly709= Single submitter
p.Gly761= Single submitter
p.Gly774= Single submitter
p.Gly78= Single submitter
p.Gly881= Single submitter
p.His128= Single submitter
p.His497= Single submitter
p.Ile162= Single submitter
p.Ile16Val Single submitter
p.Ile419= Single submitter
p.Ile828Thr Single submitter Inborn genetic diseases
p.Ile859= Single submitter
p.Leu237= Single submitter
p.Leu30= Single submitter
p.Leu348= Single submitter
p.Leu412= Single submitter
p.Leu502= Single submitter
p.Leu642= Single submitter
p.Leu646= Single submitter
p.Leu713= Single submitter
p.Leu734= Single submitter
p.Leu763= Single submitter
p.Leu862= Single submitter
p.Leu874= Single submitter
p.Leu903= Single submitter
p.Leu944= Single submitter
p.Leu970= Single submitter
p.Lys107= Single submitter
p.Met431Val Single submitter Inborn genetic diseases
p.Phe49= Single submitter
p.Phe74= Single submitter
p.Pro217= Single submitter
p.Pro346Leu Single submitter ⚠
p.Pro368= Single submitter
p.Pro514= Single submitter
p.Pro729= Single submitter
p.Pro919= Single submitter
p.Ser282= Single submitter
p.Ser31= Single submitter
p.Ser32= Single submitter
p.Ser40= Single submitter
p.Ser439= Single submitter
p.Ser513= Single submitter
p.Ser548= Single submitter
p.Ser712= Single submitter
p.Ser94= Single submitter
p.Thr544= Single submitter
p.Thr633= Single submitter
p.Thr89= Single submitter
p.Thr964= Single submitter
p.Tyr387= Single submitter
p.Val200= Single submitter
p.Val507= Single submitter
p.Val616= Single submitter
p.Val781Ile Single submitter Inborn genetic diseases
p.Val895= Single submitter
c.1753-3C>T No assertion criteria AARS2-related disorder
c.-9G>C No assertion criteria AARS2-related disorder

Uncertain significance 315

Showing the top 300 by review status; the full set is in the sitemap.

c.*718C>A Multiple submitters combined oxidative phosphorylation defect type 8
p.Ala275Val Multiple submitters Inborn genetic diseases ⚠
p.Ala37Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala386Val Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Ala566Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala737Gly Multiple submitters Inborn genetic diseases ⚠
p.Ala740Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala740Val Multiple submitters ⚠
p.Ala741Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala802Val Multiple submitters Inborn genetic diseases ⚠
p.Ala9Ser Multiple submitters Inborn genetic diseases ⚠
p.Ala9Thr Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Arg101His Multiple submitters leukoencephalopathy, progressive, with ovarian failure ⚠
p.Arg123Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg28Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg308Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg316Cys Multiple submitters ⚠
p.Arg316His Multiple submitters Inborn genetic diseases ⚠
p.Arg356Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg359His Multiple submitters ⚠
p.Arg421Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg480Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg482Trp Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Arg504Leu Multiple submitters ⚠
p.Arg561Thr Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Arg57Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg611Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg678Trp Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Arg711Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg711His Multiple submitters Inborn genetic diseases ⚠
p.Arg722Gln Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Arg756Cys Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Arg769Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg777Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg777His Multiple submitters Inborn genetic diseases ⚠
p.Arg806Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg854His Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Arg901Gln Multiple submitters Inborn genetic diseases ⚠
p.Asp227Asn Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Gln247Lys Multiple submitters ⚠
p.Gln906His Multiple submitters Inborn genetic diseases ⚠
p.Glu314del Multiple submitters Cardiovascular phenotype
p.Glu532Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu567Lys Multiple submitters ⚠
p.Gly140Glu Multiple submitters Inborn genetic diseases ⚠
p.Gly141Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly415Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly569Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly932Ser Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.His225Tyr Multiple submitters Cardiovascular phenotype ⚠
p.His732Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile224Leu Multiple submitters Cardiovascular phenotype ⚠
p.Ile766Ser Multiple submitters Cardiovascular phenotype ⚠
p.Leu118Val Multiple submitters Cardiovascular phenotype ⚠
p.Leu180Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu538Met Multiple submitters Cardiovascular phenotype ⚠
p.Leu73Val Multiple submitters Inborn genetic diseases ⚠
p.Leu851Val Multiple submitters Inborn genetic diseases ⚠
p.Lys460Arg Multiple submitters Inborn genetic diseases ⚠
p.Phe74Tyr Multiple submitters Inborn genetic diseases ⚠
p.Pro163Ser Multiple submitters mitochondrial disease ⚠
p.Pro291Leu Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Pro303Thr Multiple submitters leukoencephalopathy, progressive, with ovarian failure ⚠
p.Pro522Arg Multiple submitters ⚠
p.Pro736Leu Multiple submitters Inborn genetic diseases ⚠
p.Ser170Phe Multiple submitters Inborn genetic diseases ⚠
p.Ser439Phe Multiple submitters Inborn genetic diseases ⚠
p.Thr938Pro Multiple submitters mitochondrial disease ⚠
p.Val323Met Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Val507Leu Multiple submitters ⚠
p.Val549Met Multiple submitters Inborn genetic diseases ⚠
p.Val586Met Multiple submitters Inborn genetic diseases ⚠
p.Val616Met Multiple submitters combined oxidative phosphorylation defect type 8 ⚠
p.Val885Gly Multiple submitters Inborn genetic diseases ⚠
c.1867-11A>C Single submitter
c.2598+3G>A Single submitter
c.2682+5G>A Single submitter
c.2683-21_2683-20inv Single submitter
c.750-9C>T Single submitter combined oxidative phosphorylation defect type 8
c.895-13_895-12inv Single submitter
c.*1045G>A Single submitter combined oxidative phosphorylation defect type 8
c.*1197C>T Single submitter combined oxidative phosphorylation defect type 8
c.*1252A>C Single submitter combined oxidative phosphorylation defect type 8
c.*1293A>G Single submitter combined oxidative phosphorylation defect type 8
c.*1310T>C Single submitter combined oxidative phosphorylation defect type 8
c.*1326A>G Single submitter combined oxidative phosphorylation defect type 8
c.*1471C>T Single submitter combined oxidative phosphorylation defect type 8
c.*1485G>A Single submitter combined oxidative phosphorylation defect type 8
c.*1536G>C Single submitter combined oxidative phosphorylation defect type 8
c.*1549C>T Single submitter combined oxidative phosphorylation defect type 8
c.*155C>T Single submitter combined oxidative phosphorylation defect type 8
c.*1603C>G Single submitter combined oxidative phosphorylation defect type 8
c.*1706C>T Single submitter combined oxidative phosphorylation defect type 8
c.*1720C>T Single submitter combined oxidative phosphorylation defect type 8
c.*1811C>T Single submitter combined oxidative phosphorylation defect type 8
c.*256A>G Single submitter combined oxidative phosphorylation defect type 8
c.*262T>C Single submitter combined oxidative phosphorylation defect type 8
c.*279G>A Single submitter combined oxidative phosphorylation defect type 8
c.*317G>A Single submitter combined oxidative phosphorylation defect type 8
c.*394C>A Single submitter combined oxidative phosphorylation defect type 8
c.*408G>C Single submitter combined oxidative phosphorylation defect type 8
c.*448G>T Single submitter combined oxidative phosphorylation defect type 8
c.*51T>C Single submitter combined oxidative phosphorylation defect type 8
c.*627G>A Single submitter combined oxidative phosphorylation defect type 8
c.*683C>G Single submitter combined oxidative phosphorylation defect type 8
c.*752G>C Single submitter combined oxidative phosphorylation defect type 8
c.*753C>G Single submitter combined oxidative phosphorylation defect type 8
c.*982G>A Single submitter combined oxidative phosphorylation defect type 8
c.*997G>T Single submitter combined oxidative phosphorylation defect type 8
p.Ala111Pro Single submitter ⚠
p.Ala152Asp Single submitter AARS2-related disorder ⚠
p.Ala152Gly Single submitter ⚠
p.Ala15Thr Single submitter Inborn genetic diseases ⚠
p.Ala197Val Single submitter Inborn genetic diseases ⚠
p.Ala252Gly Single submitter ⚠
p.Ala295Ser Single submitter Inborn genetic diseases ⚠
p.Ala295Thr Single submitter Inborn genetic diseases ⚠
p.Ala2Thr Single submitter ⚠
p.Ala36Thr Single submitter ⚠
p.Ala386Thr Single submitter Inborn genetic diseases ⚠
p.Ala395Pro Single submitter Inborn genetic diseases ⚠
p.Ala3Val Single submitter Cardiovascular phenotype ⚠
p.Ala407_Phe408insAspGluAlaAla Single submitter
p.Ala437Asp Single submitter ⚠
p.Ala477Val Single submitter ⚠
p.Ala498Thr Single submitter ⚠
p.Ala545Val Single submitter ⚠
p.Ala591Thr Single submitter Inborn genetic diseases ⚠
p.Ala623Val Single submitter Inborn genetic diseases ⚠
p.Ala6Thr Single submitter ⚠
p.Ala740Pro Single submitter Cardiovascular phenotype ⚠
p.Ala759Val Single submitter Inborn genetic diseases ⚠
p.Ala789Ser Single submitter Inborn genetic diseases ⚠
p.Ala7Pro Single submitter ⚠
p.Ala815Val Single submitter ⚠
p.Ala867Ser Single submitter ⚠
p.Ala890Thr Single submitter ⚠
p.Ala8Ser Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Ala954Thr Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Arg100Gln Single submitter Inborn genetic diseases ⚠
p.Arg101Cys Single submitter ⚠
p.Arg10Gly Single submitter Inborn genetic diseases ⚠
p.Arg123Gly Single submitter Cardiovascular phenotype ⚠
p.Arg272Ser Single submitter ⚠
p.Arg301Lys Single submitter Inborn genetic diseases ⚠
p.Arg301Ser Single submitter Inborn genetic diseases ⚠
p.Arg308= Single submitter
p.Arg322His Single submitter ⚠
p.Arg355His Single submitter ⚠
p.Arg417Trp Single submitter ⚠
p.Arg421Gln Single submitter ⚠
p.Arg421Leu Single submitter ⚠
p.Arg471Trp Single submitter ⚠
p.Arg504His Single submitter Inborn genetic diseases ⚠
p.Arg521Gln Single submitter Inborn genetic diseases ⚠
p.Arg575Cys Single submitter Inborn genetic diseases ⚠
p.Arg580Gln Single submitter ⚠
p.Arg580Gly Single submitter ⚠
p.Arg625Cys Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Arg65Trp Single submitter Inborn genetic diseases ⚠
p.Arg663His Single submitter ⚠
p.Arg67Pro Single submitter Inborn genetic diseases ⚠
p.Arg756His Single submitter ⚠
p.Arg769His Single submitter ⚠
p.Arg790Gln Single submitter ⚠
p.Arg790Gly Single submitter ⚠
p.Arg826Gln Single submitter Inborn genetic diseases ⚠
p.Arg841Trp Single submitter Inborn genetic diseases ⚠
p.Arg842Gln Single submitter ⚠
p.Arg842Trp Single submitter ⚠
p.Arg853Gln Single submitter Inborn genetic diseases ⚠
p.Arg860Cys Single submitter Inborn genetic diseases ⚠
p.Arg860His Single submitter ⚠
p.Arg901Gly Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Asn136= Single submitter combined oxidative phosphorylation defect type 8
p.Asn136Ser Single submitter ⚠
p.Asn294Asp Single submitter Inborn genetic diseases ⚠
p.Asn294Ser Single submitter ⚠
p.Asn563Tyr Single submitter leukoencephalopathy, progressive, with ovarian failure ⚠
p.Asn76Ser Single submitter Inborn genetic diseases ⚠
p.Asp117Glu Single submitter Inborn genetic diseases ⚠
p.Asp120Asn Single submitter Inborn genetic diseases ⚠
p.Asp183His Single submitter ⚠
p.Asp430Gly Single submitter ⚠
p.Asp735Glu Single submitter Inborn genetic diseases ⚠
p.Asp886Glu Single submitter ⚠
p.Cys218Ser Single submitter ⚠
p.Cys596= Single submitter combined oxidative phosphorylation defect type 8
p.Cys750Arg Single submitter Inborn genetic diseases ⚠
p.Gln158Lys Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Gln503Arg Single submitter ⚠
p.Gln568Arg Single submitter Cardiovascular phenotype ⚠
p.Gln615Pro Single submitter ⚠
p.Gln669Lys Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Gln788Glu Single submitter ⚠
p.Gln928Arg Single submitter Inborn genetic diseases ⚠
p.Gln978His Single submitter Inborn genetic diseases ⚠
p.Glu142= Single submitter combined oxidative phosphorylation defect type 8
p.Glu142Lys Single submitter ⚠
p.Glu363Asp Single submitter ⚠
p.Glu363Lys Single submitter Inborn genetic diseases ⚠
p.Glu405Lys Single submitter leukoencephalopathy, progressive, with ovarian failure ⚠
p.Glu435Gly Single submitter Inborn genetic diseases ⚠
p.Glu459Gln Single submitter Inborn genetic diseases ⚠
p.Glu470Gln Single submitter ⚠
p.Glu603Asp Single submitter ⚠
p.Glu791Lys Single submitter Cardiovascular phenotype ⚠
p.Glu843Gly Single submitter ⚠
p.Glu891Lys Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Gly231Arg Single submitter Inborn genetic diseases ⚠
p.Gly279Ser Single submitter ⚠
p.Gly310Val Single submitter ⚠
p.Gly524Arg Single submitter ⚠
p.Gly529Ala Single submitter Inborn genetic diseases ⚠
p.Gly543Arg Single submitter ⚠
p.Gly552Asp Single submitter Inborn genetic diseases ⚠
p.Gly556Val Single submitter Inborn genetic diseases ⚠
p.Gly570Ser Single submitter ⚠
p.Gly598Ser Single submitter Inborn genetic diseases ⚠
p.Gly761Arg Single submitter Inborn genetic diseases ⚠
p.Gly767Arg Single submitter Inborn genetic diseases ⚠
p.Gly783Ala Single submitter Inborn genetic diseases ⚠
p.Gly881Arg Single submitter Cardiovascular phenotype ⚠
p.Gly88Ser Single submitter ⚠
p.Gly965Arg Single submitter leukoencephalopathy, progressive, with ovarian failure ⚠
p.His115Leu Single submitter ⚠
p.His479Tyr Single submitter ⚠
p.Ile189Ser Single submitter ⚠
p.Ile224Asn Single submitter ⚠
p.Ile296Met Single submitter Inborn genetic diseases ⚠
p.Ile600Val Single submitter Inborn genetic diseases ⚠
p.Leu134Pro Single submitter ⚠
p.Leu156Val Single submitter Inborn genetic diseases ⚠
p.Leu191Arg Single submitter ⚠
p.Leu201Phe Single submitter ⚠
p.Leu228Phe Single submitter ⚠
p.Leu293= Single submitter combined oxidative phosphorylation defect type 8
p.Leu348Val Single submitter Inborn genetic diseases ⚠
p.Leu350Phe Single submitter ⚠
p.Leu350Pro Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Leu400Pro Single submitter ⚠
p.Leu423Val Single submitter Inborn genetic diseases ⚠
p.Leu499Arg Single submitter ⚠
p.Leu557Phe Single submitter ⚠
p.Leu601Val Single submitter Inborn genetic diseases ⚠
p.Leu637Gln Single submitter Inborn genetic diseases ⚠
p.Leu703Pro Single submitter Inborn genetic diseases ⚠
p.Lys773Glu Single submitter Inborn genetic diseases ⚠
p.Lys880Thr Single submitter Cardiovascular phenotype ⚠
p.Lys953fs Single submitter Cardiovascular phenotype
p.Met151Leu Single submitter ⚠
p.Met343Thr Single submitter ⚠
p.Met456Val Single submitter ⚠
p.Met629Val Single submitter Inborn genetic diseases ⚠
p.Met696Leu Single submitter ⚠
p.Met950Ile Single submitter ⚠
p.Phe86Leu Single submitter Cardiovascular phenotype ⚠
p.Pro205Leu Single submitter Inborn genetic diseases ⚠
p.Pro217Ser Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Pro260Arg Single submitter Cardiovascular phenotype ⚠
p.Pro29Ser Single submitter ⚠
p.Pro346Thr Single submitter ⚠
p.Pro347= Single submitter combined oxidative phosphorylation defect type 8
p.Pro34Ala Single submitter Inborn genetic diseases ⚠
p.Pro368Thr Single submitter Inborn genetic diseases ⚠
p.Pro522Ser Single submitter ⚠
p.Pro607Ser Single submitter Inborn genetic diseases ⚠
p.Pro659Thr Single submitter Inborn genetic diseases ⚠
p.Pro908Thr Single submitter ⚠
p.Ser19= Single submitter combined oxidative phosphorylation defect type 8
p.Ser202Pro Single submitter ⚠
p.Ser26Asn Single submitter ⚠
p.Ser332Asn Single submitter leukoencephalopathy, progressive, with ovarian failure ⚠
p.Ser344Leu Single submitter Inborn genetic diseases ⚠
p.Ser40Leu Single submitter ⚠
p.Ser40Trp Single submitter ⚠
p.Ser411Ala Single submitter ⚠
p.Ser4Thr Single submitter ⚠
p.Ser573Leu Single submitter ⚠
p.Ser71Gly Single submitter Inborn genetic diseases ⚠
p.Ser879Leu Single submitter ⚠
p.Ser879Trp Single submitter combined oxidative phosphorylation defect type 8 ⚠
p.Ser975Gly Single submitter Inborn genetic diseases ⚠
p.Thr330Ile Single submitter Inborn genetic diseases ⚠
p.Thr330Lys Single submitter Inborn genetic diseases ⚠
p.Thr382Ile Single submitter ⚠
p.Thr510Ala Single submitter Inborn genetic diseases ⚠
p.Thr635Asn Single submitter ⚠
p.Thr752Met Single submitter ⚠
p.Thr757Ile Single submitter ⚠
p.Thr776Ile Single submitter Inborn genetic diseases ⚠
p.Thr847Ala Single submitter ⚠
p.Thr857Ile Single submitter Inborn genetic diseases ⚠
p.Thr910Arg Single submitter ⚠
p.Thr910Met Single submitter ⚠
p.Trp168Arg Single submitter ⚠
p.Tyr305= Single submitter combined oxidative phosphorylation defect type 8
p.Tyr526= Single submitter
p.Tyr980His Single submitter Inborn genetic diseases ⚠
p.Val109Leu Single submitter ⚠