AIFM1 — 586 ClinVar variants

All ClinVar germline AIFM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 247 flagged for review →

11 Pathogenic · 3 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 34 Conflicting · 24 Benign · 19 Benign/Likely benign · 217 Likely benign · 244 Uncertain significance

Full AIFM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 247

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 11

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

AIFM1 p.Arg422Gln Pathogenic/Likely pathogenic Multiple submitters
Deafness, X-linked 5
AIFM1 p.Ala157Ser Likely pathogenic Single submitter
AIFM1 p.Ala553Val Likely pathogenic Single submitter
Tip-toe gait
AIFM1 p.Asp237Val Likely pathogenic Single submitter
AIFM1 p.Glu254Lys Likely pathogenic Single submitter
spondyloepimetaphyseal dysplasia, Bieganski type
AIFM1 p.Gly248Ser Likely pathogenic Single submitter
spondyloepimetaphyseal dysplasia, Bieganski type
AIFM1 p.Lys231Glu Likely pathogenic Single submitter
Deafness, X-linked 5
AIFM1 p.Ser57Pro Likely pathogenic Single submitter
dystonia 9
AIFM1 p.Gln235His Pathogenic No assertion criteria
spondyloepimetaphyseal dysplasia, Bieganski type
AIFM1 p.Ile287Thr Likely pathogenic No assertion criteria
Deafness, X-linked 5
AIFM1 p.Val233Ile Likely pathogenic No assertion criteria
Auditory neuropathy spectrum disorder

Predictors agree, ClinVar conflicts 23

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

AIFM1 p.Ala114Thr Conflicting Single submitter
Inborn genetic diseases
AIFM1 p.Ala318Thr Conflicting Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ala549Val Conflicting Single submitter
spondyloepimetaphyseal dysplasia, Bieganski type
AIFM1 p.Arg151Trp Conflicting Single submitter
Deafness, X-linked 5
AIFM1 p.Arg298Gln Conflicting Single submitter
Deafness, X-linked 5
AIFM1 p.Arg3Gln Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Arg463Ile Conflicting Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Asn186Asp Conflicting Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Glu336Lys Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Glu47Asp Conflicting Single submitter
Inborn genetic diseases
AIFM1 p.Leu344Phe Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Lys86Asn Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Met242Val Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Met340Ile Conflicting Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Pro169Leu Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Pro544Leu Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Pro548Leu Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Pro548Ser Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Thr304Met Conflicting Single submitter
Inborn genetic diseases
AIFM1 p.Val555Ile Conflicting Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Glu493Val Conflicting No assertion criteria
Charcot-Marie-Tooth disease X-linked recessive 4
AIFM1 p.Gly308Glu Conflicting No assertion criteria
Charcot-Marie-Tooth disease X-linked recessive 4
AIFM1 p.Val243Leu Conflicting No assertion criteria
Charcot-Marie-Tooth disease X-linked recessive 4

Predictors lean, ClinVar uncertain 155

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 155

AIFM1 p.Ala117Val Uncertain significance Multiple submitters
Inborn genetic diseases
AIFM1 p.Ala80Thr Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Arg151Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Arg153Gln Uncertain significance Multiple submitters
severe X-linked mitochondrial encephalomyopathy
AIFM1 p.Arg201Lys Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
AIFM1 p.Arg41Gln Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Arg430Cys Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Asn241Ser Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Asp126Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AIFM1 p.Asp216Asn Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asp489Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AIFM1 p.Asp499Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asp65His Uncertain significance Multiple submitters
AIFM1-related disorder
AIFM1 p.Gln49His Uncertain significance Multiple submitters
severe X-linked mitochondrial encephalomyopathy
AIFM1 p.Gly563Ala Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Gly58Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ile270Val Uncertain significance Multiple submitters
Inborn genetic diseases
AIFM1 p.Ile394Thr Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ile495Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ile543Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease
AIFM1 p.Ile565Val Uncertain significance Multiple submitters
Charcot-Marie-Tooth disease X-linked recessive 4
AIFM1 p.Leu607Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Lys384Arg Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Lys63Glu Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Phe566Ile Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, Bieganski type
AIFM1 p.Pro166Leu Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Pro28Gln Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ser501Cys Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ser546Gly Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Thr282Met Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Thr512Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val25Ala Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val372Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AIFM1 p.Val374Ile Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Val452Ala Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Ala11Pro Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ala275Val Uncertain significance Single submitter
AIFM1 p.Ala458Gly Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ala473Thr Uncertain significance Single submitter
AIFM1 p.Ala494Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ala59Val Uncertain significance Single submitter
AIFM1 p.Ala82Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ala8Thr Uncertain significance Single submitter
AIFM1 p.Ala8Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ala9Ser Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ala9Val Uncertain significance Single submitter
AIFM1 p.Arg158Thr Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Arg26Pro Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Arg33Gln Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Arg358Gln Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Arg430His Uncertain significance Single submitter
AIFM1 p.Arg450Lys Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Asn246His Uncertain significance Single submitter
AIFM1 p.Asn37Thr Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asn602Ser Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Asp165Asn Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Asp184Ala Uncertain significance Single submitter
AIFM1 p.Asp240Asn Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Asp392Asn Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Asp489His Uncertain significance Single submitter
AIFM1 p.Asp489Tyr Uncertain significance Single submitter
severe X-linked mitochondrial encephalomyopathy
AIFM1 p.Asp559Gly Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Asp570Glu Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asp65Asn Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Asp91Asn Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Gln125Pro Uncertain significance Single submitter
AIFM1 p.Gln332Glu Uncertain significance Single submitter
Deafness, X-linked 5
AIFM1 p.Gln370Arg Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Gln479Glu Uncertain significance Single submitter
AIFM1 p.Glu122Ala Uncertain significance Single submitter
AIFM1 p.Glu354Ala Uncertain significance Single submitter
AIFM1 p.Glu540Ala Uncertain significance Single submitter
AIFM1 p.Glu558Asp Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Gly10Asp Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Gly198Arg Uncertain significance Single submitter
AIFM1 p.Gly309Ser Uncertain significance Single submitter
AIFM1 p.Gly327Val Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Gly448Arg Uncertain significance Single submitter
severe X-linked mitochondrial encephalomyopathy
AIFM1 p.Gly448Glu Uncertain significance Single submitter
AIFM1 p.Gly471Glu Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Gly525Glu Uncertain significance Single submitter
AIFM1 p.Gly527Ser Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Gly557Arg Uncertain significance Single submitter
AIFM1 p.Gly595Ser Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Gly61Val Uncertain significance Single submitter
AIFM1 p.Gly62Ser Uncertain significance Single submitter
AIFM1 p.His43Arg Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ile137Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ile220Thr Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ile220Val Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Ile343Phe Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Ile394Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ile414Thr Uncertain significance Single submitter
Deafness, X-linked 5
AIFM1 p.Ile414Val Uncertain significance Single submitter
AIFM1 p.Ile445Thr Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ile528Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ile610Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ile72Val Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Leu115Phe Uncertain significance Single submitter
AIFM1 p.Leu217Val Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, Bieganski type
AIFM1 p.Leu319His Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Leu34Pro Uncertain significance Single submitter
AIFM1 p.Leu380Phe Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Leu568Arg Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Lys15Thr Uncertain significance Single submitter
AIFM1 p.Lys177Arg Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Lys388Thr Uncertain significance Single submitter
AIFM1 p.Lys446Arg Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Lys518Arg Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Met171Ile Uncertain significance Single submitter
Charcot-Marie-Tooth disease
AIFM1 p.Met171Thr Uncertain significance Single submitter
AIFM1 p.Met171Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Met353Thr Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Met364Val Uncertain significance Single submitter
AIFM1 p.Met481Val Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Met88Leu Uncertain significance Single submitter
AIFM1 p.Phe134Leu Uncertain significance Single submitter
AIFM1 p.Phe210Leu Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Phe2Tyr Uncertain significance Single submitter
AIFM1 p.Phe334Tyr Uncertain significance Single submitter
AIFM1 p.Pro106Ala Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Pro106Thr Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Pro124Thr Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Pro133Leu Uncertain significance Single submitter
Charcot-Marie-Tooth disease X-linked recessive 4
AIFM1 p.Pro18Leu Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Pro207Leu Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Pro207Ser Uncertain significance Single submitter
AIFM1 p.Pro264Ala Uncertain significance Single submitter
AIFM1 p.Pro554Ser Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ser292Asn Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ser313Gly Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ser532Gly Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ser536Phe Uncertain significance Single submitter
AIFM1 p.Ser546Arg Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Thr188Ala Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Thr304Ala Uncertain significance Single submitter
AIFM1 p.Thr304Ser Uncertain significance Single submitter
AIFM1 p.Thr391Ala Uncertain significance Single submitter
AIFM1 p.Tyr443Cys Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Tyr560Cys Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Val123Ile Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val17Ala Uncertain significance Single submitter
AIFM1 p.Val225Met Uncertain significance Single submitter
AIFM1 p.Val25Gly Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Val363Leu Uncertain significance Single submitter
AIFM1 p.Val389Leu Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val460Met Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val498Met Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Val574Leu Uncertain significance Single submitter
AIFM1 p.Val68Met Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X

Predictors split 58

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

AIFM1 p.Arg529Gln Uncertain significance Multiple submitters
severe X-linked mitochondrial encephalomyopathy
AIFM1 p.Asn350Ile Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asp183Gly Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asp515Asn Likely benign Multiple submitters
Inborn genetic diseases
AIFM1 p.Glu329Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AIFM1 p.Glu533Lys Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Gly386Ser Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Lys199Asn Likely benign Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ser371Tyr Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Tyr83Cys Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Tyr85His Uncertain significance Multiple submitters
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val361Ile Uncertain significance Multiple submitters
combined oxidative phosphorylation deficiency
AIFM1 p.Ala226Val Uncertain significance Single submitter
AIFM1-related disorder
AIFM1 p.Ala439Thr Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Arg321Gly Uncertain significance Single submitter
AIFM1 p.Arg529Leu Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asn241Asp Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asn403Ser Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Asn580Ser Likely pathogenic Single submitter
Deafness, X-linked 5
AIFM1 p.Asp216Tyr Uncertain significance Single submitter
AIFM1 p.Asp594Ala Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Glu294Gly Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Gly411Asp Likely benign Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Gly557Trp Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Gly81Asp Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ile581Phe Likely pathogenic Single submitter
Deafness, X-linked 5
AIFM1 p.Leu136Ile Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Leu191Val Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Leu319Val Uncertain significance Single submitter
AIFM1 p.Leu502Phe Uncertain significance Single submitter
AIFM1 p.Lys518Thr Uncertain significance Single submitter
AIFM1 p.Pro133Ser Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Pro133Thr Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Pro365Arg Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Pro503Thr Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ser116Cys Uncertain significance Single submitter
AIFM1 p.Ser349Gly Conflicting Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Ser431Cys Uncertain significance Single submitter
Inborn genetic diseases
AIFM1 p.Ser530Leu Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Ser532Arg Uncertain significance Single submitter
severe X-linked mitochondrial encephalomyopathy
AIFM1 p.Ser57Cys Conflicting Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Thr252Pro Uncertain significance Single submitter
AIFM1 p.Thr282Arg Likely pathogenic Single submitter
AIFM1-related disorder
AIFM1 p.Tyr95Cys Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val227Ala Uncertain significance Single submitter
AIFM1 p.Val234Leu Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Val369Leu Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val395Leu Uncertain significance Single submitter
AIFM1 p.Val452Ile Uncertain significance Single submitter
Charcot-Marie-Tooth Neuropathy X
AIFM1 p.Val577Met Uncertain significance Single submitter
combined oxidative phosphorylation deficiency
AIFM1 p.Asp237Gly Pathogenic No assertion criteria
spondyloepimetaphyseal dysplasia, Bieganski type
AIFM1 p.Gly262Ser Pathogenic No assertion criteria
Charcot-Marie-Tooth disease X-linked recessive 4
AIFM1 p.Gly360Arg Likely pathogenic No assertion criteria
Deafness, X-linked 5
AIFM1 p.Ile591Met Likely pathogenic No assertion criteria
Deafness, X-linked 5
AIFM1 p.Pro208Leu Uncertain significance No assertion criteria
Charcot-Marie-Tooth disease X-linked recessive 4
AIFM1 p.Pro488Leu Pathogenic No assertion criteria
Auditory neuropathy spectrum disorder
AIFM1 p.Ser163Cys Uncertain significance No assertion criteria
AIFM1-related disorder
AIFM1 p.Tyr560His Likely pathogenic No assertion criteria
Deafness, X-linked 5

All AIFM1 variants

Pathogenic 11

c.1164+5G>A No assertion criteria severe X-linked mitochondrial encephalomyopathy
c.697-44T>G No assertion criteria spondyloepimetaphyseal dysplasia, Bieganski type
p.Arg201del No assertion criteria severe X-linked mitochondrial encephalomyopathy
p.Asp237Gly No assertion criteria spondyloepimetaphyseal dysplasia, Bieganski type ⚠
p.Gln235His No assertion criteria spondyloepimetaphyseal dysplasia, Bieganski type ⚠
p.Gln479Arg No assertion criteria severe X-linked mitochondrial encephalomyopathy
p.Gly262Ser No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 4 ⚠
p.Gly338Glu No assertion criteria severe X-linked mitochondrial encephalomyopathy
p.Pro488Leu No assertion criteria Auditory neuropathy spectrum disorder ⚠
p.Thr141Ile No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 4
p.Thr260Ala No assertion criteria Deafness, X-linked 5

Pathogenic/Likely pathogenic 3

p.Arg422Gln Multiple submitters Deafness, X-linked 5 ⚠
p.Arg422Trp Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Met340Thr Multiple submitters sensorineural hearing loss disorder

Likely pathogenic 34

p.Ala157Ser Single submitter ⚠
p.Ala259Gly Single submitter Charcot-Marie-Tooth disease X-linked recessive 4
p.Ala465Val Single submitter auditory neuropathy
p.Ala472Val Single submitter auditory neuropathy
p.Ala553Val Single submitter Tip-toe gait ⚠
p.Arg153Trp Single submitter Deafness, X-linked 5
p.Arg451Gln Single submitter
p.Asn580Ser Single submitter Deafness, X-linked 5 ⚠
p.Asp237Val Single submitter ⚠
p.Glu254Lys Single submitter spondyloepimetaphyseal dysplasia, Bieganski type ⚠
p.Gly248Ser Single submitter spondyloepimetaphyseal dysplasia, Bieganski type ⚠
p.Gly399Ser Single submitter combined oxidative phosphorylation deficiency
p.Ile581Phe Single submitter Deafness, X-linked 5 ⚠
p.Lys231Glu Single submitter Deafness, X-linked 5 ⚠
p.Lys301Ile Single submitter auditory neuropathy
p.Phe193Ser Single submitter
p.Pro402Thr Single submitter
p.Pro475Leu Single submitter combined oxidative phosphorylation deficiency
p.Ser57Pro Single submitter dystonia 9 ⚠
p.Thr282Arg Single submitter AIFM1-related disorder ⚠
p.Tyr476His Single submitter
p.Tyr492His Single submitter AIFM1-related disorder
p.Val395Gly Single submitter
p.Val423Ile Single submitter severe X-linked mitochondrial encephalomyopathy
c.-123G>C No assertion criteria Deafness, X-linked 5
p.Ala145Val No assertion criteria Deafness, X-linked 5
p.Ala440Val No assertion criteria Deafness, X-linked 5
p.Arg569Gly No assertion criteria Deafness, X-linked 5
p.Gly360Arg No assertion criteria Deafness, X-linked 5 ⚠
p.Ile287Thr No assertion criteria Deafness, X-linked 5 ⚠
p.Ile591Met No assertion criteria Deafness, X-linked 5 ⚠
p.Leu191Pro No assertion criteria Deafness, X-linked 5
p.Tyr560His No assertion criteria Deafness, X-linked 5 ⚠
p.Val233Ile No assertion criteria Auditory neuropathy spectrum disorder ⚠

Conflicting classifications of pathogenicity 34

c.1075+4G>C Single submitter Inborn genetic diseases
c.1770+12T>C Single submitter spondyloepimetaphyseal dysplasia, Bieganski type
c.-185G>A Single submitter severe X-linked mitochondrial encephalomyopathy
c.-90G>C Single submitter severe X-linked mitochondrial encephalomyopathy
p.Ala114Thr Single submitter Inborn genetic diseases ⚠
p.Ala318Thr Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ala549= Single submitter Inborn genetic diseases
p.Ala549Val Single submitter spondyloepimetaphyseal dysplasia, Bieganski type ⚠
p.Arg151Trp Single submitter Deafness, X-linked 5 ⚠
p.Arg298Gln Single submitter Deafness, X-linked 5 ⚠
p.Arg3Gln Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Arg463Ile Single submitter combined oxidative phosphorylation deficiency ⚠
p.Asn186Asp Single submitter combined oxidative phosphorylation deficiency ⚠
p.Asn403Ile Single submitter Inborn genetic diseases
p.Asp240= Single submitter AIFM1-related hypomyelination with spondylometaphyseal dysplasia
p.Glu336Lys Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Glu346Lys Single submitter Inborn genetic diseases
p.Glu47Asp Single submitter Inborn genetic diseases ⚠
p.Gly58= Single submitter combined oxidative phosphorylation deficiency
p.Leu344Phe Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Lys86Asn Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Met242Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Met340Ile Single submitter combined oxidative phosphorylation deficiency ⚠
p.Pro169Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Pro544Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Pro548Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Pro548Ser Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Ser349Gly Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ser57Cys Single submitter combined oxidative phosphorylation deficiency ⚠
p.Thr304Met Single submitter Inborn genetic diseases ⚠
p.Val555Ile Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Glu493Val No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 4 ⚠
p.Gly308Glu No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 4 ⚠
p.Val243Leu No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 4 ⚠

Benign 24

c.107-122A>G Multiple submitters
c.107-177G>A Multiple submitters
c.1305+40C>T Multiple submitters
c.1573+256T>C Multiple submitters
c.350-87C>T Multiple submitters
c.606-104G>A Multiple submitters
c.967+127T>C Multiple submitters
c.967+48G>A Multiple submitters
p.Asp91= Multiple submitters Charcot-Marie-Tooth disease
p.Gln332= Multiple submitters Charcot-Marie-Tooth disease
p.Ile306= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Met88Val Multiple submitters severe X-linked mitochondrial encephalomyopathy
c.106+15C>G Single submitter combined oxidative phosphorylation deficiency
c.1305+240C>G Single submitter
c.1306-176del Single submitter
c.1573+18C>G Single submitter combined oxidative phosphorylation deficiency
c.250-243T>C Single submitter
c.250-4G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.782-11C>T Single submitter Charcot-Marie-Tooth Neuropathy X
c.-165G>A Single submitter severe X-linked mitochondrial encephalomyopathy
p.Ala128= Single submitter combined oxidative phosphorylation deficiency
p.Leu217= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Lys446= Single submitter combined oxidative phosphorylation deficiency
p.Pro545Ser Single submitter Charcot-Marie-Tooth Neuropathy X

Benign/Likely benign 19

c.1075+20A>G Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.606-15C>T Multiple submitters Charcot-Marie-Tooth disease
c.968-14T>A Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.968-358C>T Multiple submitters
p.Ala114Val Multiple submitters Inborn genetic diseases
p.Ala316= Multiple submitters Inborn genetic diseases
p.Ala472= Multiple submitters combined oxidative phosphorylation deficiency
p.Asp594= Multiple submitters Charcot-Marie-Tooth disease
p.Glu122= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Glu537Lys Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.His611= Multiple submitters Charcot-Marie-Tooth disease X-linked recessive 4
p.Leu486= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Lys199= Multiple submitters combined oxidative phosphorylation deficiency
p.Pro18= Multiple submitters combined oxidative phosphorylation deficiency
p.Pro45Arg Multiple submitters combined oxidative phosphorylation deficiency
p.Pro548= Multiple submitters severe X-linked mitochondrial encephalomyopathy
p.Ser349= Multiple submitters combined oxidative phosphorylation deficiency
p.Thr409= Multiple submitters severe X-linked mitochondrial encephalomyopathy
p.Tyr443= Multiple submitters Charcot-Marie-Tooth Neuropathy X

Likely benign 217

c.1305+9G>T Multiple submitters combined oxidative phosphorylation deficiency
c.1448+14G>C Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.1448+8T>C Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.1449-5_1449-3del Multiple submitters combined oxidative phosphorylation deficiency
c.1574-20G>T Multiple submitters Charcot-Marie-Tooth disease
c.1771-13C>T Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.249+1258T>C Multiple submitters Inborn genetic diseases
c.249+1424T>C Multiple submitters
c.249+18G>A Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.250-118A>G Multiple submitters
c.349+8T>G Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.474+13T>G Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.605+14T>C Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.606-100C>T Multiple submitters
c.696+16G>A Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.781+202C>T Multiple submitters
c.781+85A>G Multiple submitters
c.782-124C>T Multiple submitters
c.782-4C>A Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.967+119A>T Multiple submitters
c.967+133T>C Multiple submitters
c.968-161C>T Multiple submitters
p.Ala113= Multiple submitters combined oxidative phosphorylation deficiency
p.Ala114= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Ala128Val Multiple submitters combined oxidative phosphorylation deficiency
p.Arg21= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Arg324Gln Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Asn246= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Asn96Ser Multiple submitters combined oxidative phosphorylation deficiency
p.Asp515Asn Multiple submitters Inborn genetic diseases ⚠
p.Glu493= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Glu92Lys Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Gly320= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.His598= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Ile64= Multiple submitters combined oxidative phosphorylation deficiency
p.Leu267= Multiple submitters combined oxidative phosphorylation deficiency
p.Lys199Asn Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Lys571= Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Ser313= Multiple submitters Charcot-Marie-Tooth disease
p.Ser371= Multiple submitters combined oxidative phosphorylation deficiency
p.Ser536= Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.106+10C>T Single submitter combined oxidative phosphorylation deficiency
c.106+12A>C Single submitter Charcot-Marie-Tooth Neuropathy X
c.106+19G>A Single submitter combined oxidative phosphorylation deficiency
c.1075+170C>T Single submitter
c.1075+18A>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.1076-10G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.1076-118A>G Single submitter
c.1076-14G>C Single submitter combined oxidative phosphorylation deficiency
c.1076-6T>C Single submitter combined oxidative phosphorylation deficiency
c.1076-7T>C Single submitter combined oxidative phosphorylation deficiency
c.1164+11A>C Single submitter combined oxidative phosphorylation deficiency
c.1164+9G>A Single submitter combined oxidative phosphorylation deficiency
c.1305+17A>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.1305+8_1305+9del Single submitter combined oxidative phosphorylation deficiency
c.1306-12T>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.1306-17T>C Single submitter Charcot-Marie-Tooth Neuropathy X
c.1306-4A>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.1448+11T>C Single submitter Charcot-Marie-Tooth Neuropathy X
c.1448+149C>T Single submitter
c.1448+16C>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.1448+215A>G Single submitter
c.1449-10C>G Single submitter combined oxidative phosphorylation deficiency
c.1449-60A>G Single submitter
c.1573+11C>T Single submitter combined oxidative phosphorylation deficiency
c.1573+8A>G Single submitter combined oxidative phosphorylation deficiency
c.1574-14G>C Single submitter Charcot-Marie-Tooth Neuropathy X
c.1574-15G>T Single submitter Charcot-Marie-Tooth Neuropathy X
c.1770+11G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.1770+146G>A Single submitter
c.1770+7G>T Single submitter combined oxidative phosphorylation deficiency
c.1771-11C>T Single submitter Charcot-Marie-Tooth Neuropathy X
c.1771-12T>C Single submitter combined oxidative phosphorylation deficiency
c.1771-14T>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.1771-14T>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.1771-16_1771-13del Single submitter Charcot-Marie-Tooth Neuropathy X
c.1771-8T>C Single submitter Charcot-Marie-Tooth Neuropathy X
c.1771-9C>T Single submitter
c.249+1297G>A Single submitter
c.249+1313G>A Single submitter
c.249+17C>T Single submitter Charcot-Marie-Tooth Neuropathy X
c.249+20G>A Single submitter combined oxidative phosphorylation deficiency
c.250-5C>T Single submitter combined oxidative phosphorylation deficiency
c.250-6C>A Single submitter combined oxidative phosphorylation deficiency
c.250-9G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.250-9G>C Single submitter combined oxidative phosphorylation deficiency
c.349+13_349+14insTCCCTAC Single submitter combined oxidative phosphorylation deficiency
c.349+257C>T Single submitter
c.350-16G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.474+8G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.475-15T>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.475-17G>C Single submitter combined oxidative phosphorylation deficiency
c.475-5T>C Single submitter combined oxidative phosphorylation deficiency
c.475-8G>A Single submitter combined oxidative phosphorylation deficiency
c.605+13A>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.605+262T>G Single submitter
c.605+9G>T Single submitter Charcot-Marie-Tooth Neuropathy X
c.606-12T>C Single submitter combined oxidative phosphorylation deficiency
c.606-14T>C Single submitter Charcot-Marie-Tooth Neuropathy X
c.606-15C>G Single submitter combined oxidative phosphorylation deficiency
c.606-17CT[2] Single submitter combined oxidative phosphorylation deficiency
c.606-19C>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.606-6A>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.696+15C>T Single submitter combined oxidative phosphorylation deficiency
c.696+20_696+22del Single submitter combined oxidative phosphorylation deficiency
c.697-11G>T Single submitter combined oxidative phosphorylation deficiency
c.697-13G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.697-192G>A Single submitter
c.697-39C>A Single submitter
c.697-53T>C Single submitter
c.697-7G>A Single submitter combined oxidative phosphorylation deficiency
c.781+19G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.781+9T>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.781+9T>C Single submitter combined oxidative phosphorylation deficiency
c.782-18T>C Single submitter Charcot-Marie-Tooth Neuropathy X
c.859-13T>C Single submitter combined oxidative phosphorylation deficiency
c.859-146C>T Single submitter
c.967+10G>A Single submitter
c.967+15G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.967+15G>T Single submitter combined oxidative phosphorylation deficiency
c.967+18A>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.967+300T>C Single submitter
c.967+317A>G Single submitter
c.967+325C>T Single submitter
c.967+326T>G Single submitter
c.967+530del Single submitter
c.967+548T>A Single submitter
c.967+9T>C Single submitter Charcot-Marie-Tooth Neuropathy X
c.968-17C>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.968-340A>G Single submitter
c.968-638C>T Single submitter
c.968-8C>T Single submitter Charcot-Marie-Tooth Neuropathy X
c.*160A>G Single submitter
c.*20C>A Single submitter Charcot-Marie-Tooth disease
p.Ala143= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Ala214= Single submitter combined oxidative phosphorylation deficiency
p.Ala259= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Ala273= Single submitter combined oxidative phosphorylation deficiency
p.Ala318= Single submitter combined oxidative phosphorylation deficiency
p.Ala458= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Ala511= Single submitter combined oxidative phosphorylation deficiency
p.Ala520Val Single submitter combined oxidative phosphorylation deficiency
p.Ala9= Single submitter combined oxidative phosphorylation deficiency
p.Arg29= Single submitter combined oxidative phosphorylation deficiency
p.Arg387= Single submitter combined oxidative phosphorylation deficiency
p.Arg569= Single submitter combined oxidative phosphorylation deficiency
p.Asn366Ser Single submitter combined oxidative phosphorylation deficiency
p.Asn580= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Asp184= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Asp216= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Asp385= Single submitter combined oxidative phosphorylation deficiency
p.Gln110Lys Single submitter Charcot-Marie-Tooth Neuropathy X
p.Gln14= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Gln250= Single submitter
p.Gln370= Single submitter combined oxidative phosphorylation deficiency
p.Glu276= Single submitter combined oxidative phosphorylation deficiency
p.Glu336= Single submitter combined oxidative phosphorylation deficiency
p.Glu531= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Gly411Asp Single submitter combined oxidative phosphorylation deficiency ⚠
p.Gly491= Single submitter combined oxidative phosphorylation deficiency
p.Gly561Ser Single submitter Charcot-Marie-Tooth Neuropathy X
p.Gly575= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Gly58Val Single submitter Charcot-Marie-Tooth Neuropathy X
p.Gly62= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Ile565= Single submitter combined oxidative phosphorylation deficiency
p.Leu104= Single submitter combined oxidative phosphorylation deficiency
p.Leu16= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Leu179= Single submitter combined oxidative phosphorylation deficiency
p.Leu348= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Leu379= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Leu383= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Leu400= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Leu412= Single submitter combined oxidative phosphorylation deficiency
p.Leu464= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Leu578= Single submitter combined oxidative phosphorylation deficiency
p.Leu607= Single submitter combined oxidative phosphorylation deficiency
p.Leu7= Single submitter combined oxidative phosphorylation deficiency
p.Lys109= Single submitter combined oxidative phosphorylation deficiency
p.Lys194Arg Single submitter Inborn genetic diseases
p.Lys322= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Lys593= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Phe290= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Pro106= Single submitter combined oxidative phosphorylation deficiency
p.Pro166= Single submitter combined oxidative phosphorylation deficiency
p.Pro169= Single submitter combined oxidative phosphorylation deficiency
p.Pro28= Single submitter combined oxidative phosphorylation deficiency
p.Pro335= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Pro345= Single submitter combined oxidative phosphorylation deficiency
p.Pro475= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Pro488= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Pro544Ser Single submitter Charcot-Marie-Tooth Neuropathy X
p.Pro554= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Pro586= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Thr105Ala Single submitter combined oxidative phosphorylation deficiency
p.Thr22= Single submitter combined oxidative phosphorylation deficiency
p.Thr252= Single submitter combined oxidative phosphorylation deficiency
p.Thr282= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Thr534= Single submitter
p.Tyr492Cys Single submitter combined oxidative phosphorylation deficiency
p.Tyr560= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val159= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val17= Single submitter combined oxidative phosphorylation deficiency
p.Val187Ile Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val212= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val25= Single submitter combined oxidative phosphorylation deficiency
p.Val300= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val372= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val395= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val452= Single submitter combined oxidative phosphorylation deficiency
p.Val550= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val572= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val573= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Val574= Single submitter combined oxidative phosphorylation deficiency
c.782-9T>C No assertion criteria AIFM1-related disorder
c.968-349C>G No assertion criteria AIFM1-related disorder
c.-119A>G No assertion criteria AIFM1-related disorder
c.-133G>A No assertion criteria AIFM1-related disorder

Uncertain significance 244

c.1448+5T>C Multiple submitters Charcot-Marie-Tooth Neuropathy X
c.782-3C>T Multiple submitters severe X-linked mitochondrial encephalomyopathy
p.108QK[1] Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Ala117Val Multiple submitters Inborn genetic diseases ⚠
p.Ala80Thr Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Arg151Gln Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Arg153Gln Multiple submitters severe X-linked mitochondrial encephalomyopathy ⚠
p.Arg201Lys Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Arg41Gln Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Arg430Cys Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Arg529Gln Multiple submitters severe X-linked mitochondrial encephalomyopathy ⚠
p.Asn241Ser Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Asn350Ile Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Asp126Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp183Gly Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Asp216Asn Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Asp489Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp499Tyr Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Asp65His Multiple submitters AIFM1-related disorder ⚠
p.Gln49His Multiple submitters severe X-linked mitochondrial encephalomyopathy ⚠
p.Glu329Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu531Val Multiple submitters combined oxidative phosphorylation deficiency
p.Glu533Lys Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Gly386Ser Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Gly563Ala Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Gly58Ser Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Ile270Val Multiple submitters Inborn genetic diseases ⚠
p.Ile343Met Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Ile394Thr Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Ile495Val Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Ile543Val Multiple submitters Charcot-Marie-Tooth disease ⚠
p.Ile565Val Multiple submitters Charcot-Marie-Tooth disease X-linked recessive 4 ⚠
p.Leu48del Multiple submitters Charcot-Marie-Tooth Neuropathy X
p.Leu607Gln Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Lys384Arg Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Lys63Glu Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Phe566Ile Multiple submitters spondyloepimetaphyseal dysplasia, Bieganski type ⚠
p.Pro166Leu Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Pro28Gln Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Ser371Tyr Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Ser501Cys Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Ser546Gly Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Thr282Met Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Thr512Ala Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Tyr83Cys Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Tyr85His Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Val25Ala Multiple submitters Charcot-Marie-Tooth Neuropathy X ⚠
p.Val361Ile Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Val372Ile Multiple submitters Inborn genetic diseases ⚠
p.Val374Ile Multiple submitters combined oxidative phosphorylation deficiency ⚠
p.Val452Ala Multiple submitters combined oxidative phosphorylation deficiency ⚠
c.106+20C>T Single submitter Charcot-Marie-Tooth Neuropathy X
c.106+3dup Single submitter Charcot-Marie-Tooth Neuropathy X
c.1448+12G>A Single submitter combined oxidative phosphorylation deficiency
c.1449-4T>C Single submitter
c.1573+3A>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.1574-3C>T Single submitter combined oxidative phosphorylation deficiency
c.1770+5G>T Single submitter Charcot-Marie-Tooth Neuropathy X
c.249+1202C>A Single submitter Inborn genetic diseases
c.249+1226G>C Single submitter Inborn genetic diseases
c.349+6T>C Single submitter combined oxidative phosphorylation deficiency
c.350-12T>C Single submitter combined oxidative phosphorylation deficiency
c.350-3C>T Single submitter combined oxidative phosphorylation deficiency
c.350-5T>C Single submitter combined oxidative phosphorylation deficiency
c.474+3A>G Single submitter Charcot-Marie-Tooth Neuropathy X
c.474+5G>A Single submitter Charcot-Marie-Tooth Neuropathy X
c.606-14T>A Single submitter combined oxidative phosphorylation deficiency
c.696+3G>A Single submitter combined oxidative phosphorylation deficiency
c.697-4C>T Single submitter severe X-linked mitochondrial encephalomyopathy
c.858+13T>G Single submitter severe X-linked mitochondrial encephalomyopathy
c.968-1G>A Single submitter
c.968-340A>C Single submitter
c.*49C>T Single submitter severe X-linked mitochondrial encephalomyopathy
p.Ala11Pro Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Ala226Val Single submitter AIFM1-related disorder ⚠
p.Ala273Val Single submitter combined oxidative phosphorylation deficiency
p.Ala275Val Single submitter ⚠
p.Ala439Thr Single submitter Inborn genetic diseases ⚠
p.Ala458Gly Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ala473Thr Single submitter ⚠
p.Ala494Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ala59Val Single submitter ⚠
p.Ala82Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ala8Thr Single submitter ⚠
p.Ala8Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ala9Ser Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ala9Val Single submitter ⚠
p.Arg158Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Arg26Pro Single submitter combined oxidative phosphorylation deficiency ⚠
p.Arg26Ser Single submitter
p.Arg321Gly Single submitter ⚠
p.Arg33_Leu34del Single submitter combined oxidative phosphorylation deficiency
p.Arg33Gln Single submitter combined oxidative phosphorylation deficiency ⚠
p.Arg358Gln Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Arg430His Single submitter ⚠
p.Arg450Lys Single submitter combined oxidative phosphorylation deficiency ⚠
p.Arg529Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Arg584Gln Single submitter Charcot-Marie-Tooth Neuropathy X
p.Asn241= Single submitter combined oxidative phosphorylation deficiency
p.Asn241Asp Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Asn246His Single submitter ⚠
p.Asn37Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Asn403Ser Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Asn602Ser Single submitter combined oxidative phosphorylation deficiency ⚠
p.Asp154Asn Single submitter severe X-linked mitochondrial encephalomyopathy
p.Asp165Asn Single submitter combined oxidative phosphorylation deficiency ⚠
p.Asp184Ala Single submitter ⚠
p.Asp216Tyr Single submitter ⚠
p.Asp240Asn Single submitter Inborn genetic diseases ⚠
p.Asp392Asn Single submitter combined oxidative phosphorylation deficiency ⚠
p.Asp489His Single submitter ⚠
p.Asp489Tyr Single submitter severe X-linked mitochondrial encephalomyopathy ⚠
p.Asp559Gly Single submitter Inborn genetic diseases ⚠
p.Asp570Glu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Asp594Ala Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Asp65Asn Single submitter combined oxidative phosphorylation deficiency ⚠
p.Asp91Asn Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Gln125Pro Single submitter ⚠
p.Gln332Glu Single submitter Deafness, X-linked 5 ⚠
p.Gln370Arg Single submitter combined oxidative phosphorylation deficiency ⚠
p.Gln370Lys Single submitter combined oxidative phosphorylation deficiency
p.Gln479Glu Single submitter ⚠
p.Glu122Ala Single submitter ⚠
p.Glu294Gly Single submitter combined oxidative phosphorylation deficiency ⚠
p.Glu354Ala Single submitter ⚠
p.Glu540Ala Single submitter ⚠
p.Glu558Asp Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Gly10Asp Single submitter combined oxidative phosphorylation deficiency ⚠
p.Gly198Arg Single submitter ⚠
p.Gly309Ser Single submitter ⚠
p.Gly327Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Gly411Ala Single submitter
p.Gly411del Single submitter severe X-linked mitochondrial encephalomyopathy
p.Gly448Arg Single submitter severe X-linked mitochondrial encephalomyopathy ⚠
p.Gly448Glu Single submitter ⚠
p.Gly471Glu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Gly525Glu Single submitter ⚠
p.Gly527Ser Single submitter combined oxidative phosphorylation deficiency ⚠
p.Gly557Arg Single submitter ⚠
p.Gly557Trp Single submitter combined oxidative phosphorylation deficiency ⚠
p.Gly595Ser Single submitter combined oxidative phosphorylation deficiency ⚠
p.Gly61Val Single submitter ⚠
p.Gly62Ser Single submitter ⚠
p.Gly81Asp Single submitter combined oxidative phosphorylation deficiency ⚠
p.His43Arg Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ile137Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ile150= Single submitter
p.Ile220Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Ile220Val Single submitter Inborn genetic diseases ⚠
p.Ile343Phe Single submitter Inborn genetic diseases ⚠
p.Ile394Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ile414Thr Single submitter Deafness, X-linked 5 ⚠
p.Ile414Val Single submitter ⚠
p.Ile433Met Single submitter
p.Ile445Thr Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ile528Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ile610Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ile72Val Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Leu115Phe Single submitter ⚠
p.Leu136Ile Single submitter Inborn genetic diseases ⚠
p.Leu191Val Single submitter Inborn genetic diseases ⚠
p.Leu217Val Single submitter spondyloepimetaphyseal dysplasia, Bieganski type ⚠
p.Leu319His Single submitter combined oxidative phosphorylation deficiency ⚠
p.Leu319Val Single submitter ⚠
p.Leu34Pro Single submitter ⚠
p.Leu380Phe Single submitter combined oxidative phosphorylation deficiency ⚠
p.Leu502Phe Single submitter ⚠
p.Leu568Arg Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Lys15Thr Single submitter ⚠
p.Lys177Arg Single submitter Inborn genetic diseases ⚠
p.Lys388Thr Single submitter ⚠
p.Lys446Arg Single submitter combined oxidative phosphorylation deficiency ⚠
p.Lys518Arg Single submitter combined oxidative phosphorylation deficiency ⚠
p.Lys518Thr Single submitter ⚠
p.Met171Ile Single submitter Charcot-Marie-Tooth disease ⚠
p.Met171Thr Single submitter ⚠
p.Met171Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Met353Thr Single submitter combined oxidative phosphorylation deficiency ⚠
p.Met364Val Single submitter ⚠
p.Met481Val Single submitter combined oxidative phosphorylation deficiency ⚠
p.Met88Leu Single submitter ⚠
p.Phe134Leu Single submitter ⚠
p.Phe210Leu Single submitter combined oxidative phosphorylation deficiency ⚠
p.Phe2Tyr Single submitter ⚠
p.Phe334Tyr Single submitter ⚠
p.Phe418Cys Single submitter Charcot-Marie-Tooth Neuropathy X
p.Pro106Ala Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Pro106Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Pro124Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Pro133Leu Single submitter Charcot-Marie-Tooth disease X-linked recessive 4 ⚠
p.Pro133Ser Single submitter combined oxidative phosphorylation deficiency ⚠
p.Pro133Thr Single submitter combined oxidative phosphorylation deficiency ⚠
p.Pro18Leu Single submitter combined oxidative phosphorylation deficiency ⚠
p.Pro207Leu Single submitter combined oxidative phosphorylation deficiency ⚠
p.Pro207Ser Single submitter ⚠
p.Pro264Ala Single submitter ⚠
p.Pro365Arg Single submitter combined oxidative phosphorylation deficiency ⚠
p.Pro503Thr Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Pro554Ser Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Ser116Cys Single submitter ⚠
p.Ser202= Single submitter Charcot-Marie-Tooth Neuropathy X
p.Ser292Asn Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ser313Gly Single submitter combined oxidative phosphorylation deficiency ⚠
p.Ser431Cys Single submitter Inborn genetic diseases ⚠
p.Ser530Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Ser532Arg Single submitter severe X-linked mitochondrial encephalomyopathy ⚠
p.Ser532Gly Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Ser536Phe Single submitter ⚠
p.Ser546Arg Single submitter combined oxidative phosphorylation deficiency ⚠
p.Thr188Ala Single submitter combined oxidative phosphorylation deficiency ⚠
p.Thr252Pro Single submitter ⚠
p.Thr304Ala Single submitter ⚠
p.Thr304Ser Single submitter ⚠
p.Thr391Ala Single submitter ⚠
p.Thr470Ser Single submitter Inborn genetic diseases
p.Tyr443Cys Single submitter combined oxidative phosphorylation deficiency ⚠
p.Tyr560Cys Single submitter combined oxidative phosphorylation deficiency ⚠
p.Tyr83= Single submitter combined oxidative phosphorylation deficiency
p.Tyr95Cys Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Val123Ile Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Val17Ala Single submitter ⚠
p.Val225Met Single submitter ⚠
p.Val227Ala Single submitter ⚠
p.Val234Leu Single submitter combined oxidative phosphorylation deficiency ⚠
p.Val25Gly Single submitter combined oxidative phosphorylation deficiency ⚠
p.Val363Leu Single submitter ⚠
p.Val369Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Val389Leu Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Val395Leu Single submitter ⚠
p.Val452Ile Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Val460Met Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Val498Met Single submitter Inborn genetic diseases ⚠
p.Val574Leu Single submitter ⚠
p.Val577Met Single submitter combined oxidative phosphorylation deficiency ⚠
p.Val68Met Single submitter Charcot-Marie-Tooth Neuropathy X ⚠
p.Val70= Single submitter
p.Val78Ile Single submitter combined oxidative phosphorylation deficiency ⚠
c.1164+16_1164+19del No assertion criteria Auditory neuropathy spectrum disorder
p.Ala11Gly No assertion criteria AIFM1-related disorder ⚠
p.Lys362Gln No assertion criteria 3-hydroxyisobutyryl-CoA hydrolase deficiency ⚠
p.Met171Leu No assertion criteria peripheral neuropathy ⚠
p.Met585Thr No assertion criteria AIFM1-related disorder ⚠
p.Pro208Leu No assertion criteria Charcot-Marie-Tooth disease X-linked recessive 4 ⚠
p.Ser163Cys No assertion criteria AIFM1-related disorder ⚠