AFG3L2 — 571 ClinVar variants
All ClinVar germline AFG3L2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 264 flagged for review →
35 Pathogenic · 3 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 31 Conflicting · 51 Benign · 9 Benign/Likely benign · 129 Likely benign · 284 Uncertain significance
Full AFG3L2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 264
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 19
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
AFG3L2 p.Ala462Val
Conflicting
Single submitter
spinocerebellar ataxia type 28
-
AFG3L2 p.Ala572Thr
Conflicting
Single submitter
optic atrophy 12
-
AFG3L2 p.Arg632Gln
Conflicting
Single submitter
spastic ataxia
-
AFG3L2 p.Arg702Gln
Conflicting
Single submitter
spinocerebellar ataxia type 28
-
AFG3L2 p.Asn432Ser
Conflicting
Single submitter
AFG3L2-related disorder
- AFG3L2 p.Asp407Asn Conflicting Single submitter
-
AFG3L2 p.Gln33His
Conflicting
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Gln33Pro
Conflicting
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Ile705Thr
Conflicting
Single submitter
spinocerebellar ataxia type 28
-
AFG3L2 p.Leu772Phe
Conflicting
Single submitter
spastic ataxia 5
-
AFG3L2 p.Met158Val
Conflicting
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Met93Thr
Conflicting
Single submitter
Inborn genetic diseases
- AFG3L2 p.Pro514Ser Conflicting Single submitter
-
AFG3L2 p.Thr281Ala
Conflicting
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Thr355Met
Conflicting
Single submitter
optic atrophy 12
-
AFG3L2 p.Trp9Cys
Conflicting
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Val212Ile
Conflicting
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Val723Met
Conflicting
Single submitter
spinocerebellar ataxia type 28
-
AFG3L2 p.Leu621Val
Conflicting
No assertion criteria
spinocerebellar ataxia type 28
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
-
AFG3L2 p.Ala579Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFG3L2 p.Ala581Gly Uncertain significance Multiple submitters
-
AFG3L2 p.Ala588Thr
Uncertain significance
Multiple submitters
optic atrophy 12
- AFG3L2 p.Ala714Thr Uncertain significance Multiple submitters
-
AFG3L2 p.Ala751Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Arg106His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Arg599His
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 28
-
AFG3L2 p.Arg711Ile
Uncertain significance
Multiple submitters
intellectual disability
-
AFG3L2 p.Arg783Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFG3L2 p.Asn366Asp Uncertain significance Multiple submitters
-
AFG3L2 p.Asn52Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFG3L2 p.Asp439Gly Uncertain significance Multiple submitters
-
AFG3L2 p.Asp589His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFG3L2 p.Asp698Tyr Uncertain significance Multiple submitters
-
AFG3L2 p.Asp740Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Gln607Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Glu428Asp
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 28
-
AFG3L2 p.Glu782Asp
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 28
-
AFG3L2 p.Glu91Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Gly155Ser
Uncertain significance
Multiple submitters
optic atrophy 12
-
AFG3L2 p.Gly18Val
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 28
- AFG3L2 p.Gly26Ser Uncertain significance Multiple submitters
-
AFG3L2 p.Gly577Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Gly645Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.His3Tyr
Uncertain significance
Multiple submitters
spastic ataxia 5
- AFG3L2 p.Ile264Val Uncertain significance Multiple submitters
-
AFG3L2 p.Ile271Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Leu677Pro
Uncertain significance
Multiple submitters
optic atrophy 12
-
AFG3L2 p.Leu772Ile
Uncertain significance
Multiple submitters
spastic ataxia 5
- AFG3L2 p.Met158Leu Uncertain significance Multiple submitters
- AFG3L2 p.Met285Arg Uncertain significance Multiple submitters
- AFG3L2 p.Met683Val Uncertain significance Multiple submitters
- AFG3L2 p.Pro16Ser Uncertain significance Multiple submitters
- AFG3L2 p.Pro30Ser Uncertain significance Multiple submitters
-
AFG3L2 p.Pro466Leu
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 28
- AFG3L2 p.Pro688Ala Uncertain significance Multiple submitters
- AFG3L2 p.Pro791Leu Uncertain significance Multiple submitters
-
AFG3L2 p.Thr221Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFG3L2 p.Thr347Ser Uncertain significance Multiple submitters
- AFG3L2 p.Thr644Ser Uncertain significance Multiple submitters
-
AFG3L2 p.Val382Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Val448Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFG3L2 p.Val662Phe Uncertain significance Multiple submitters
-
AFG3L2 p.Ala338Glu
Uncertain significance
Single submitter
optic atrophy 12
- AFG3L2 p.Ala338Val Uncertain significance Single submitter
- AFG3L2 p.Ala396Thr Uncertain significance Single submitter
- AFG3L2 p.Ala396Val Uncertain significance Single submitter
- AFG3L2 p.Ala400Gly Uncertain significance Single submitter
-
AFG3L2 p.Ala462Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Ala506Ser
Uncertain significance
Single submitter
spinocerebellar ataxia type 28
- AFG3L2 p.Ala510Thr Uncertain significance Single submitter
- AFG3L2 p.Ala657Val Uncertain significance Single submitter
- AFG3L2 p.Ala751Glu Uncertain significance Single submitter
- AFG3L2 p.Arg118Gln Uncertain significance Single submitter
-
AFG3L2 p.Arg144Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Arg397Gln Uncertain significance Single submitter
- AFG3L2 p.Arg455Leu Uncertain significance Single submitter
- AFG3L2 p.Arg51Ser Uncertain significance Single submitter
- AFG3L2 p.Arg651Lys Uncertain significance Single submitter
- AFG3L2 p.Asn239Asp Uncertain significance Single submitter
-
AFG3L2 p.Asn366Ser
Uncertain significance
Single submitter
optic atrophy 12
-
AFG3L2 p.Asn82His
Uncertain significance
Single submitter
spinocerebellar ataxia type 28
-
AFG3L2 p.Asp208Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Asp304Asn Uncertain significance Single submitter
-
AFG3L2 p.Asp470Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Asp470Tyr Uncertain significance Single submitter
- AFG3L2 p.Asp520His Uncertain significance Single submitter
- AFG3L2 p.Asp698Gly Uncertain significance Single submitter
- AFG3L2 p.Asp740His Uncertain significance Single submitter
- AFG3L2 p.Cys313Arg Uncertain significance Single submitter
-
AFG3L2 p.Cys5Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Gln20Leu Uncertain significance Single submitter
- AFG3L2 p.Gln230Glu Uncertain significance Single submitter
- AFG3L2 p.Gln424His Uncertain significance Single submitter
- AFG3L2 p.Gln542His Uncertain significance Single submitter
- AFG3L2 p.Gln607His Uncertain significance Single submitter
- AFG3L2 p.Gln613Pro Uncertain significance Single submitter
- AFG3L2 p.Glu236Lys Uncertain significance Single submitter
-
AFG3L2 p.Glu322Gly
Uncertain significance
Single submitter
optic atrophy 12
-
AFG3L2 p.Glu32Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Glu550Asp Uncertain significance Single submitter
- AFG3L2 p.Glu575Asp Uncertain significance Single submitter
- AFG3L2 p.Glu784Lys Uncertain significance Single submitter
- AFG3L2 p.Glu98Ala Uncertain significance Single submitter
- AFG3L2 p.Gly119Ser Uncertain significance Single submitter
- AFG3L2 p.Gly155Val Uncertain significance Single submitter
- AFG3L2 p.Gly18Arg Uncertain significance Single submitter
- AFG3L2 p.Gly343Val Uncertain significance Single submitter
- AFG3L2 p.Gly351Asp Uncertain significance Single submitter
- AFG3L2 p.Gly413Arg Uncertain significance Single submitter
- AFG3L2 p.Gly413Glu Uncertain significance Single submitter
- AFG3L2 p.Gly515Val Uncertain significance Single submitter
- AFG3L2 p.Gly582Cys Uncertain significance Single submitter
- AFG3L2 p.Gly792Ala Uncertain significance Single submitter
- AFG3L2 p.His126Tyr Uncertain significance Single submitter
-
AFG3L2 p.Ile246Val
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Ile278Val Uncertain significance Single submitter
- AFG3L2 p.Ile403Thr Uncertain significance Single submitter
- AFG3L2 p.Ile705Val Uncertain significance Single submitter
- AFG3L2 p.Leu163Phe Uncertain significance Single submitter
- AFG3L2 p.Leu19Val Uncertain significance Single submitter
- AFG3L2 p.Leu268Val Uncertain significance Single submitter
-
AFG3L2 p.Leu54Arg
Uncertain significance
Single submitter
spinocerebellar ataxia type 28
- AFG3L2 p.Leu650Val Uncertain significance Single submitter
- AFG3L2 p.Leu728Arg Uncertain significance Single submitter
- AFG3L2 p.Leu776Pro Uncertain significance Single submitter
-
AFG3L2 p.Lys121Gln
Uncertain significance
Single submitter
spastic ataxia 5
- AFG3L2 p.Lys133Gln Uncertain significance Single submitter
- AFG3L2 p.Lys611Glu Uncertain significance Single submitter
- AFG3L2 p.Lys687Thr Uncertain significance Single submitter
-
AFG3L2 p.Lys719Arg
Uncertain significance
Single submitter
spinocerebellar ataxia type 28
-
AFG3L2 p.Lys90Glu
Uncertain significance
Single submitter
spinocerebellar ataxia type 28
- AFG3L2 p.Met145Leu Uncertain significance Single submitter
-
AFG3L2 p.Met158Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Met627Leu Uncertain significance Single submitter
- AFG3L2 p.Met741Thr Uncertain significance Single submitter
- AFG3L2 p.Phe393Leu Uncertain significance Single submitter
- AFG3L2 p.Phe65Leu Uncertain significance Single submitter
- AFG3L2 p.Phe675Ser Uncertain significance Single submitter
- AFG3L2 p.Phe77Ile Uncertain significance Single submitter
-
AFG3L2 p.Pro101Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Pro30Leu
Uncertain significance
Single submitter
spinocerebellar ataxia type 28
-
AFG3L2 p.Pro30Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Pro401Leu Uncertain significance Single submitter
-
AFG3L2 p.Pro610Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Pro688Leu Uncertain significance Single submitter
-
AFG3L2 p.Pro69Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Pro773Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Pro78Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Ser290Asn Uncertain significance Single submitter
- AFG3L2 p.Ser290Ile Uncertain significance Single submitter
- AFG3L2 p.Ser50Gly Uncertain significance Single submitter
- AFG3L2 p.Ser674Tyr Uncertain significance Single submitter
- AFG3L2 p.Ser690Asn Uncertain significance Single submitter
-
AFG3L2 p.Ser99Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Thr199Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Thr205Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Thr560Met Uncertain significance Single submitter
- AFG3L2 p.Thr56Arg Uncertain significance Single submitter
- AFG3L2 p.Thr644Ala Uncertain significance Single submitter
- AFG3L2 p.Thr654Asn Uncertain significance Single submitter
- AFG3L2 p.Trp15Ser Uncertain significance Single submitter
- AFG3L2 p.Tyr605Cys Uncertain significance Single submitter
- AFG3L2 p.Tyr616His Uncertain significance Single submitter
- AFG3L2 p.Tyr62Asp Uncertain significance Single submitter
- AFG3L2 p.Tyr658Cys Uncertain significance Single submitter
- AFG3L2 p.Tyr756Cys Uncertain significance Single submitter
- AFG3L2 p.Val372Ile Uncertain significance Single submitter
- AFG3L2 p.Val372Phe Uncertain significance Single submitter
-
AFG3L2 p.Val389Gly
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 90
The independent predictors disagree with each other — read with care.
-
AFG3L2 p.Arg11Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Arg194Cys
Uncertain significance
Multiple submitters
AFG3L2-related disorder
-
AFG3L2 p.Arg280Trp
Uncertain significance
Multiple submitters
spastic ataxia 5
-
AFG3L2 p.Arg492Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Arg783Trp
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 28
- AFG3L2 p.Asn177Ser Uncertain significance Multiple submitters
- AFG3L2 p.Gly115Asp Uncertain significance Multiple submitters
- AFG3L2 p.Gly116Arg Uncertain significance Multiple submitters
-
AFG3L2 p.Ile235Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFG3L2 p.Ile303Thr Uncertain significance Multiple submitters
- AFG3L2 p.Ile58Thr Uncertain significance Multiple submitters
-
AFG3L2 p.Leu512Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- AFG3L2 p.Leu729Val Uncertain significance Multiple submitters
-
AFG3L2 p.Lys122Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Lys569Thr
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 28
- AFG3L2 p.Lys785Glu Uncertain significance Multiple submitters
-
AFG3L2 p.Lys787Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Pro202Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Pro747Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Ser539Cys
Uncertain significance
Multiple submitters
spinocerebellar ataxia type 28
- AFG3L2 p.Thr38Lys Uncertain significance Multiple submitters
-
AFG3L2 p.Tyr179Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Val191Ile
Uncertain significance
Multiple submitters
spastic ataxia 5
-
AFG3L2 p.Val28Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
AFG3L2 p.Ala265Thr
Conflicting
Single submitter
spinocerebellar ataxia type 28
-
AFG3L2 p.Ala2Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Arg11Pro Uncertain significance Single submitter
- AFG3L2 p.Arg11Trp Uncertain significance Single submitter
- AFG3L2 p.Arg17His Uncertain significance Single submitter
- AFG3L2 p.Arg194His Uncertain significance Single submitter
- AFG3L2 p.Arg240Gln Uncertain significance Single submitter
-
AFG3L2 p.Arg240Trp
Conflicting
Single submitter
spinocerebellar ataxia type 28
- AFG3L2 p.Arg280Gln Uncertain significance Single submitter
- AFG3L2 p.Arg283Gln Uncertain significance Single submitter
-
AFG3L2 p.Arg41Gln
Likely benign
Single submitter
Inborn genetic diseases
- AFG3L2 p.Arg4Gly Uncertain significance Single submitter
-
AFG3L2 p.Arg679Cys
Conflicting
Single submitter
spinocerebellar ataxia type 28
- AFG3L2 p.Arg679His Uncertain significance Single submitter
-
AFG3L2 p.Asn177Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Asn192Ser Uncertain significance Single submitter
- AFG3L2 p.Asn329Ser Uncertain significance Single submitter
- AFG3L2 p.Asn442Lys Uncertain significance Single submitter
-
AFG3L2 p.Asn667Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Asp123Asn Uncertain significance Single submitter
- AFG3L2 p.Asp208Val Uncertain significance Single submitter
- AFG3L2 p.Asp301His Uncertain significance Single submitter
- AFG3L2 p.Asp335His Uncertain significance Single submitter
-
AFG3L2 p.Asp767Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Cys5Tyr Uncertain significance Single submitter
- AFG3L2 p.Glu314Gln Uncertain significance Single submitter
-
AFG3L2 p.Glu501Lys
Uncertain significance
Single submitter
spastic ataxia 5
- AFG3L2 p.Glu724Asp Uncertain significance Single submitter
- AFG3L2 p.Glu732Gly Conflicting Single submitter
- AFG3L2 p.Glu95Gln Uncertain significance Single submitter
- AFG3L2 p.Glu98Gln Uncertain significance Single submitter
- AFG3L2 p.Gly10Asp Uncertain significance Single submitter
- AFG3L2 p.Gly115Ser Uncertain significance Single submitter
-
AFG3L2 p.Gly18Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Ile406Val Uncertain significance Single submitter
- AFG3L2 p.Ile549Thr Uncertain significance Single submitter
- AFG3L2 p.Leu288Pro Uncertain significance Single submitter
- AFG3L2 p.Leu8Pro Uncertain significance Single submitter
-
AFG3L2 p.Lys306Glu
Conflicting
Single submitter
spastic ataxia 5
- AFG3L2 p.Lys415Arg Uncertain significance Single submitter
- AFG3L2 p.Lys543Ile Uncertain significance Single submitter
- AFG3L2 p.Lys710Arg Uncertain significance Single submitter
-
AFG3L2 p.Lys710Ile
Conflicting
Single submitter
Inborn genetic diseases
- AFG3L2 p.Lys720Thr Uncertain significance Single submitter
- AFG3L2 p.Met257Val Uncertain significance Single submitter
- AFG3L2 p.Met627Val Uncertain significance Single submitter
-
AFG3L2 p.Phe146Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Pro202Leu Uncertain significance Single submitter
-
AFG3L2 p.Pro678Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Ser108Pro Uncertain significance Single submitter
-
AFG3L2 p.Ser539Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
AFG3L2 p.Ser771Leu
Conflicting
Single submitter
spastic ataxia 5
- AFG3L2 p.Thr104Ile Uncertain significance Single submitter
- AFG3L2 p.Thr281Ile Uncertain significance Single submitter
- AFG3L2 p.Thr361Ala Uncertain significance Single submitter
- AFG3L2 p.Thr444Ala Uncertain significance Single submitter
- AFG3L2 p.Thr499Ile Uncertain significance Single submitter
- AFG3L2 p.Thr717Ile Uncertain significance Single submitter
- AFG3L2 p.Tyr211Cys Uncertain significance Single submitter
-
AFG3L2 p.Tyr269Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Tyr616Phe Uncertain significance Single submitter
-
AFG3L2 p.Tyr62His
Uncertain significance
Single submitter
Inborn genetic diseases
- AFG3L2 p.Tyr709His Uncertain significance Single submitter
- AFG3L2 p.Val489Ile Uncertain significance Single submitter
- AFG3L2 p.Val701Ile Uncertain significance Single submitter
-
AFG3L2 p.Leu23Phe
Uncertain significance
No assertion criteria
AFG3L2-related disorder
All AFG3L2 variants
Pathogenic 35
- p.Arg41Ter Multiple submitters
- p.Arg68Ter Multiple submitters spastic ataxia 5
- p.Tyr616Cys Multiple submitters spastic ataxia 5
- c.1164+1G>A Single submitter spinocerebellar ataxia type 28
- c.753-1G>C Single submitter
- p.Arg390Ter Single submitter spinocerebellar ataxia type 28
- p.Arg468Cys Single submitter optic atrophy 12
- p.Arg551Ter Single submitter spinocerebellar ataxia type 28
- p.Arg702Ter Single submitter
- p.Asp139fs Single submitter
- p.Asp460Asn Single submitter spinocerebellar ataxia type 28
- p.Glu691Lys Single submitter spinocerebellar ataxia type 28
- p.Glu700Lys Single submitter spinocerebellar ataxia type 28
- p.Glu91Ter Single submitter spinocerebellar ataxia type 28
- p.Gly109fs Single submitter
- p.Gly337Glu Single submitter optic atrophy 12
- p.Gly665Arg Single submitter
- p.Gly671Arg Single submitter spinocerebellar ataxia type 28
- p.Lys719fs Single submitter
- p.Met666Arg Single submitter spinocerebellar ataxia type 28
- p.Thr717fs Single submitter
- p.Tyr211Ter Single submitter
- p.Tyr689_Ser690delinsTer Single submitter spinocerebellar ataxia type 28
- p.Val212fs Single submitter spastic ataxia 5
- p.Val571fs Single submitter
- p.Ala694Glu No assertion criteria spinocerebellar ataxia type 28
- p.Arg465Lys No assertion criteria intellectual disability
- p.Asn432Thr No assertion criteria spinocerebellar ataxia type 28
- p.Asn82fs No assertion criteria spastic ataxia 5
- p.Gln620Lys No assertion criteria spastic ataxia 5
- p.Leu346Phe No assertion criteria optic atrophy
- p.Pro514Leu No assertion criteria optic atrophy 12
- p.Ser674Leu No assertion criteria spinocerebellar ataxia type 28
- p.Thr430Ile No assertion criteria optic atrophy
- p.Val633_Ser634insTer No assertion criteria spastic ataxia 5
Pathogenic/Likely pathogenic 3
- p.Met666Thr Multiple submitters spinocerebellar ataxia type 28
- p.Met666Val Multiple submitters spinocerebellar ataxia type 28
- p.Tyr689His Multiple submitters spinocerebellar ataxia type 28
Likely pathogenic 29
- p.Glu691_Asp698dup Multiple submitters spinocerebellar ataxia type 28
- p.Met625Ile Multiple submitters spinocerebellar ataxia type 28
- p.Thr654Ile Multiple submitters spinocerebellar ataxia type 28
- p.Trp583Ter Multiple submitters spastic ataxia 5
- c.1026+1G>A Single submitter
- c.1026+2T>G Single submitter spastic ataxia 5
- c.1779+1G>A Single submitter
- p.Ala529Val Single submitter glycogen storage disease III
- p.Ala659Val Single submitter
- p.Arg455Ter Single submitter
- p.Arg468Gly Single submitter
- p.Arg702Leu Single submitter spinocerebellar ataxia type 28
- p.Asp407Gly Single submitter optic atrophy
- p.Gln20Ter Single submitter
- p.Gln424Ter Single submitter optic atrophy 12
- p.Glu322Lys Single submitter
- p.Gly383Val Single submitter AFG3L2-associated disorder
- p.Gly385Ser Single submitter
- p.Gly671Trp Single submitter
- p.Phe377Ser Single submitter optic nerve disorder
- p.Phe675Leu Single submitter
- p.Pro688Ser Single submitter spinocerebellar ataxia type 28
- p.Pro688Thr Single submitter spinocerebellar ataxia type 28
- p.Ser373Arg Single submitter spinocerebellar ataxia type 28
- p.Tyr76fs Single submitter spastic ataxia 5
- p.Val571Gly Single submitter spastic ataxia
- p.Val571Met Single submitter spinocerebellar ataxia type 28
- p.Arg651Gly No assertion criteria spastic ataxia 5
- p.Gly671Glu No assertion criteria spinocerebellar ataxia type 28
Conflicting classifications of pathogenicity 31
- c.114+12C>T Single submitter spinocerebellar ataxia type 28
- p.Ala265Thr Single submitter spinocerebellar ataxia type 28 ⚠
- p.Ala462Val Single submitter spinocerebellar ataxia type 28 ⚠
- p.Ala572Thr Single submitter optic atrophy 12 ⚠
- p.Arg240Trp Single submitter spinocerebellar ataxia type 28 ⚠
- p.Arg632Gln Single submitter spastic ataxia ⚠
- p.Arg679Cys Single submitter spinocerebellar ataxia type 28 ⚠
- p.Arg702Gln Single submitter spinocerebellar ataxia type 28 ⚠
- p.Asn432Ser Single submitter AFG3L2-related disorder ⚠
- p.Asp407Asn Single submitter ⚠
- p.Gln33His Single submitter Inborn genetic diseases ⚠
- p.Gln33Pro Single submitter Inborn genetic diseases ⚠
- p.Glu732Gly Single submitter ⚠
- p.Ile705Thr Single submitter spinocerebellar ataxia type 28 ⚠
- p.Leu622= Single submitter
- p.Leu772Phe Single submitter spastic ataxia 5 ⚠
- p.Lys306Glu Single submitter spastic ataxia 5 ⚠
- p.Lys710Ile Single submitter Inborn genetic diseases ⚠
- p.Met158Val Single submitter Inborn genetic diseases ⚠
- p.Met93Thr Single submitter Inborn genetic diseases ⚠
- p.Phe289= Single submitter
- p.Pro514Ser Single submitter ⚠
- p.Ser539Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser771Leu Single submitter spastic ataxia 5 ⚠
- p.Thr281Ala Single submitter Inborn genetic diseases ⚠
- p.Thr355Met Single submitter optic atrophy 12 ⚠
- p.Trp9Cys Single submitter Inborn genetic diseases ⚠
- p.Val212Ile Single submitter Inborn genetic diseases ⚠
- p.Val389= Single submitter
- p.Val723Met Single submitter spinocerebellar ataxia type 28 ⚠
- p.Leu621Val No assertion criteria spinocerebellar ataxia type 28 ⚠
Benign 51
- c.1026+8G>A Multiple submitters spinocerebellar ataxia type 28
- c.1165-21T>A Multiple submitters
- c.1664-39G>A Multiple submitters
- c.1664-9T>C Multiple submitters spinocerebellar ataxia type 28
- c.1779+260T>C Multiple submitters
- c.2175+130T>A Multiple submitters
- c.2175+18G>A Multiple submitters
- c.2176-142C>T Multiple submitters
- c.292+94C>T Multiple submitters
- c.293-14_293-13del Multiple submitters
- c.293-61A>G Multiple submitters
- c.400-14C>G Multiple submitters spinocerebellar ataxia type 28
- c.552+27G>A Multiple submitters
- c.553-95G>A Multiple submitters
- c.627+98G>A Multiple submitters
- c.752+6C>T Multiple submitters spastic ataxia 5
- c.753-55T>C Multiple submitters optic atrophy 12
- c.-32C>T Multiple submitters spinocerebellar ataxia type 28
- c.-96G>C Multiple submitters spinocerebellar ataxia type 28
- c.*28G>C Multiple submitters optic atrophy 12
- c.*2G>A Multiple submitters spinocerebellar ataxia type 28
- c.*311C>T Multiple submitters spinocerebellar ataxia type 28
- p.Glu550= Multiple submitters optic atrophy 12
- p.Leu463= Multiple submitters optic atrophy 12
- p.Ser166= Multiple submitters spinocerebellar ataxia type 28
- c.1027-12T>C Single submitter
- c.1027-17T>G Single submitter
- c.1164+252C>T Single submitter
- c.1165-225C>T Single submitter
- c.1165-251C>T Single submitter
- c.1319-150dup Single submitter
- c.1319-264C>G Single submitter
- c.1663+181T>C Single submitter
- c.1663+273G>A Single submitter
- c.1780-196del Single submitter
- c.1980+233G>A Single submitter
- c.1981-154C>G Single submitter
- c.1981-228A>G Single submitter
- c.215-14dup Single submitter
- c.2176-273G>A Single submitter
- c.292+20T>C Single submitter
- c.293-225G>A Single submitter
- c.628-4A>G Single submitter
- c.753-273T>A Single submitter
- c.-151C>T Single submitter spinocerebellar ataxia type 28
- c.-468T>C Single submitter
- p.Arg651= Single submitter
- p.Gln210= Single submitter
- p.Glu786= Single submitter
- p.Pro341= Single submitter
- p.Val382= Single submitter
Benign/Likely benign 9
- c.1319-7C>T Multiple submitters spinocerebellar ataxia type 28
- c.1981-14T>C Multiple submitters
- c.215-5A>C Multiple submitters spinocerebellar ataxia type 28
- c.-137G>C Multiple submitters spinocerebellar ataxia type 28
- c.-71C>T Multiple submitters spinocerebellar ataxia type 28
- c.*109A>C Multiple submitters spinocerebellar ataxia type 28
- p.Ala411= Multiple submitters
- p.Pro493= Multiple submitters
- p.Thr355= Multiple submitters spinocerebellar ataxia type 28
Likely benign 129
- c.1026+14T>A Multiple submitters
- c.115-4G>A Multiple submitters
- c.115-62G>T Multiple submitters
- c.1164+18C>T Multiple submitters
- c.1319-51G>T Multiple submitters
- c.1426+9A>T Multiple submitters spinocerebellar ataxia type 28
- c.215-11_215-6del Multiple submitters
- c.215-113C>T Multiple submitters
- c.215-82A>G Multiple submitters
- c.552+15G>A Multiple submitters
- c.628-173A>G Multiple submitters
- c.-357C>G Multiple submitters
- p.Ala606= Multiple submitters
- p.Arg280= Multiple submitters
- p.Asp139= Multiple submitters
- p.Gly114= Multiple submitters
- p.Gly26= Multiple submitters
- p.His587= Multiple submitters
- p.Ile264= Multiple submitters
- p.Leu262= Multiple submitters
- p.Leu500= Multiple submitters
- p.Lys193= Multiple submitters
- p.Phe381= Multiple submitters
- p.Phe469= Multiple submitters
- p.Pro590= Multiple submitters
- p.Thr260= Multiple submitters
- p.Val653= Multiple submitters
- c.1026+189T>G Single submitter
- c.1026+7T>C Single submitter
- c.1027-8A>G Single submitter
- c.114+17C>T Single submitter
- c.114+35C>T Single submitter
- c.115-18T>C Single submitter
- c.115-192C>T Single submitter
- c.115-50A>G Single submitter
- c.1165-15T>C Single submitter
- c.1165-32_1165-17del Single submitter
- c.1318+15C>T Single submitter
- c.1318+7G>A Single submitter
- c.1319-279T>C Single submitter
- c.1319-5T>C Single submitter
- c.1319-7C>G Single submitter
- c.1426+10T>A Single submitter
- c.1552+3G>A Single submitter
- c.1553-16T>C Single submitter
- c.1553-7T>C Single submitter
- c.1663+193C>T Single submitter
- c.1663+265C>T Single submitter
- c.1663+9A>G Single submitter
- c.1664-19T>C Single submitter
- c.1664-247C>T Single submitter
- c.1779+10G>A Single submitter
- c.1980+18T>A Single submitter
- c.1980+9A>C Single submitter
- c.1981-11G>A Single submitter
- c.214+158T>C Single submitter
- c.214+252A>T Single submitter
- c.214+9T>C Single submitter
- c.215-11T>G Single submitter
- c.215-13_215-10del Single submitter
- c.215-14T>C Single submitter
- c.215-14T>G Single submitter
- c.215-295C>T Single submitter
- c.2175+14G>A Single submitter spinocerebellar ataxia type 28
- c.2175+19A>G Single submitter
- c.2176-238_2176-235del Single submitter
- c.292+17_292+18insAAATATAATATA Single submitter
- c.293-348G>T Single submitter
- c.293-4A>G Single submitter
- c.293-9T>C Single submitter
- c.400-10C>T Single submitter
- c.552+293G>A Single submitter
- c.627+174T>C Single submitter
- c.627+20G>A Single submitter
- c.752+170A>G Single submitter
- c.752+191G>A Single submitter
- c.752+230T>C Single submitter
- c.753-15G>A Single submitter
- c.753-16C>T Single submitter
- c.-42G>A Single submitter
- c.-44_-35del Single submitter
- c.*16C>T Single submitter
- p.Ala2= Single submitter
- p.Ala451= Single submitter
- p.Ala646= Single submitter
- p.Ala657= Single submitter
- p.Arg41Gln Single submitter Inborn genetic diseases ⚠
- p.Arg48= Single submitter
- p.Asp722= Single submitter
- p.Cys35= Single submitter
- p.Glu567= Single submitter
- p.Glu788= Single submitter
- p.Gly12= Single submitter
- p.Gly286= Single submitter
- p.Gly363= Single submitter spinocerebellar ataxia type 28
- p.Gly413= Single submitter
- p.Gly518= Single submitter
- p.Gly600= Single submitter
- p.Ile406= Single submitter
- p.Ile409= Single submitter
- p.Leu152= Single submitter
- p.Leu19= Single submitter
- p.Leu22= Single submitter
- p.Leu254= Single submitter
- p.Leu255= Single submitter
- p.Leu357= Single submitter
- p.Leu603= Single submitter
- p.Leu772= Single submitter
- p.Lys687= Single submitter
- p.Lys794= Single submitter
- p.Phe487= Single submitter
- p.Phe545= Single submitter
- p.Pro101= Single submitter
- p.Pro461= Single submitter
- p.Pro466= Single submitter
- p.Pro791= Single submitter
- p.Ser107= Single submitter
- p.Ser108= Single submitter
- p.Ser373= Single submitter
- p.Ser87= Single submitter
- p.Thr228= Single submitter
- p.Thr499= Single submitter
- p.Tyr76= Single submitter
- p.Val190= Single submitter
- p.Val198= Single submitter
- p.Val261= Single submitter
- p.Val291= Single submitter
- c.2176-7A>C No assertion criteria AFG3L2-related disorder
- c.752+5T>G No assertion criteria AFG3L2-related disorder
Uncertain significance 284
- c.1318+6T>A Multiple submitters Inborn genetic diseases
- c.292+2T>C Multiple submitters retinal disorder
- p.Ala579Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala581Gly Multiple submitters ⚠
- p.Ala588Thr Multiple submitters optic atrophy 12 ⚠
- p.Ala714Thr Multiple submitters ⚠
- p.Ala751Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg106His Multiple submitters Inborn genetic diseases ⚠
- p.Arg11Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg194Cys Multiple submitters AFG3L2-related disorder ⚠
- p.Arg280Trp Multiple submitters spastic ataxia 5 ⚠
- p.Arg492Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg599His Multiple submitters spinocerebellar ataxia type 28 ⚠
- p.Arg711Ile Multiple submitters intellectual disability ⚠
- p.Arg783Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg783Trp Multiple submitters spinocerebellar ataxia type 28 ⚠
- p.Asn177Ser Multiple submitters ⚠
- p.Asn366Asp Multiple submitters ⚠
- p.Asn52Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp439Gly Multiple submitters ⚠
- p.Asp589His Multiple submitters Inborn genetic diseases ⚠
- p.Asp698Tyr Multiple submitters ⚠
- p.Asp740Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln607Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu428Asp Multiple submitters spinocerebellar ataxia type 28 ⚠
- p.Glu782Asp Multiple submitters spinocerebellar ataxia type 28 ⚠
- p.Glu91Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly115Asp Multiple submitters ⚠
- p.Gly116Arg Multiple submitters ⚠
- p.Gly155Ser Multiple submitters optic atrophy 12 ⚠
- p.Gly18Val Multiple submitters spinocerebellar ataxia type 28 ⚠
- p.Gly26Ser Multiple submitters ⚠
- p.Gly577Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly645Ser Multiple submitters Inborn genetic diseases ⚠
- p.His3Tyr Multiple submitters spastic ataxia 5 ⚠
- p.Ile235Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile264Val Multiple submitters ⚠
- p.Ile271Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile303Thr Multiple submitters ⚠
- p.Ile58Thr Multiple submitters ⚠
- p.Leu512Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu677Pro Multiple submitters optic atrophy 12 ⚠
- p.Leu729Val Multiple submitters ⚠
- p.Leu772Ile Multiple submitters spastic ataxia 5 ⚠
- p.Lys122Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys569Thr Multiple submitters spinocerebellar ataxia type 28 ⚠
- p.Lys785Glu Multiple submitters ⚠
- p.Lys787Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met158Leu Multiple submitters ⚠
- p.Met285Arg Multiple submitters ⚠
- p.Met683Val Multiple submitters ⚠
- p.Pro16Ser Multiple submitters ⚠
- p.Pro202Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro206del Multiple submitters
- p.Pro30Ser Multiple submitters ⚠
- p.Pro466Leu Multiple submitters spinocerebellar ataxia type 28 ⚠
- p.Pro688Ala Multiple submitters ⚠
- p.Pro747Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro791Leu Multiple submitters ⚠
- p.Ser539Cys Multiple submitters spinocerebellar ataxia type 28 ⚠
- p.Ter798Tyr Multiple submitters spastic ataxia 5
- p.Thr221Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr347Ser Multiple submitters ⚠
- p.Thr38Lys Multiple submitters ⚠
- p.Thr445del Multiple submitters
- p.Thr644Ser Multiple submitters ⚠
- p.Tyr179Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val191Ile Multiple submitters spastic ataxia 5 ⚠
- p.Val28Met Multiple submitters Inborn genetic diseases ⚠
- p.Val382Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val448Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val662Phe Multiple submitters ⚠
- c.1027-7T>G Single submitter
- c.114+3G>A Single submitter
- c.1319-8T>A Single submitter
- c.1426+2dup Single submitter
- c.1663+1G>A Single submitter optic atrophy 12
- c.1664-5G>C Single submitter spinocerebellar ataxia type 28
- c.1780-4C>T Single submitter
- c.1780-9A>C Single submitter
- c.1981-3C>A Single submitter
- c.214+3A>G Single submitter
- c.399+5G>C Single submitter
- c.400-1G>A Single submitter spinocerebellar ataxia type 28
- c.-139T>C Single submitter spinocerebellar ataxia type 28
- c.-179C>T Single submitter spinocerebellar ataxia type 28
- c.-18A>G Single submitter spinocerebellar ataxia type 28
- c.-78C>A Single submitter spinocerebellar ataxia type 28
- c.-92T>C Single submitter spinocerebellar ataxia type 28
- c.*221A>G Single submitter spinocerebellar ataxia type 28
- c.*326G>A Single submitter spinocerebellar ataxia type 28
- c.*373G>A Single submitter spinocerebellar ataxia type 28
- c.*379T>A Single submitter spinocerebellar ataxia type 28
- c.*484A>G Single submitter spinocerebellar ataxia type 28
- c.*585A>C Single submitter spinocerebellar ataxia type 28
- p.Ala2Thr Single submitter Inborn genetic diseases ⚠
- p.Ala338Glu Single submitter optic atrophy 12 ⚠
- p.Ala338Val Single submitter ⚠
- p.Ala396Thr Single submitter ⚠
- p.Ala396Val Single submitter ⚠
- p.Ala400Gly Single submitter ⚠
- p.Ala462= Single submitter
- p.Ala462Thr Single submitter Inborn genetic diseases ⚠
- p.Ala506Ser Single submitter spinocerebellar ataxia type 28 ⚠
- p.Ala510Thr Single submitter ⚠
- p.Ala657Val Single submitter ⚠
- p.Ala751Glu Single submitter ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg11Pro Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg144Lys Single submitter Inborn genetic diseases ⚠
- p.Arg17His Single submitter ⚠
- p.Arg194His Single submitter ⚠
- p.Arg240Gln Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg283Gln Single submitter ⚠
- p.Arg388= Single submitter
- p.Arg397Gln Single submitter ⚠
- p.Arg455Leu Single submitter ⚠
- p.Arg4Gly Single submitter ⚠
- p.Arg4His Single submitter
- p.Arg51Ser Single submitter ⚠
- p.Arg651Lys Single submitter ⚠
- p.Arg679His Single submitter ⚠
- p.Asn177Asp Single submitter Inborn genetic diseases ⚠
- p.Asn192Ser Single submitter ⚠
- p.Asn239Asp Single submitter ⚠
- p.Asn329Ser Single submitter ⚠
- p.Asn366Ser Single submitter optic atrophy 12 ⚠
- p.Asn442Lys Single submitter ⚠
- p.Asn667Ser Single submitter Inborn genetic diseases ⚠
- p.Asn82His Single submitter spinocerebellar ataxia type 28 ⚠
- p.Asp123Asn Single submitter ⚠
- p.Asp208Gly Single submitter Inborn genetic diseases ⚠
- p.Asp208Val Single submitter ⚠
- p.Asp301His Single submitter ⚠
- p.Asp304Asn Single submitter ⚠
- p.Asp335His Single submitter ⚠
- p.Asp470Asn Single submitter Inborn genetic diseases ⚠
- p.Asp470Tyr Single submitter ⚠
- p.Asp520His Single submitter ⚠
- p.Asp698Gly Single submitter ⚠
- p.Asp740His Single submitter ⚠
- p.Asp767Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys313Arg Single submitter ⚠
- p.Cys5Ser Single submitter Inborn genetic diseases ⚠
- p.Cys5Tyr Single submitter ⚠
- p.Gln20Leu Single submitter ⚠
- p.Gln230Glu Single submitter ⚠
- p.Gln424His Single submitter ⚠
- p.Gln542His Single submitter ⚠
- p.Gln607His Single submitter ⚠
- p.Gln613Pro Single submitter ⚠
- p.Glu189= Single submitter
- p.Glu236Lys Single submitter ⚠
- p.Glu314Gln Single submitter ⚠
- p.Glu322Gly Single submitter optic atrophy 12 ⚠
- p.Glu32Gly Single submitter Inborn genetic diseases ⚠
- p.Glu501Lys Single submitter spastic ataxia 5 ⚠
- p.Glu550Asp Single submitter ⚠
- p.Glu575Asp Single submitter ⚠
- p.Glu724Asp Single submitter ⚠
- p.Glu784Lys Single submitter ⚠
- p.Glu95Gln Single submitter ⚠
- p.Glu98Ala Single submitter ⚠
- p.Glu98Gln Single submitter ⚠
- p.Gly10Asp Single submitter ⚠
- p.Gly115Ser Single submitter ⚠
- p.Gly119Ser Single submitter ⚠
- p.Gly155Val Single submitter ⚠
- p.Gly183= Single submitter
- p.Gly18Arg Single submitter ⚠
- p.Gly18Asp Single submitter Inborn genetic diseases ⚠
- p.Gly251= Single submitter
- p.Gly343Val Single submitter ⚠
- p.Gly351Asp Single submitter ⚠
- p.Gly413Arg Single submitter ⚠
- p.Gly413Glu Single submitter ⚠
- p.Gly515Val Single submitter ⚠
- p.Gly582Cys Single submitter ⚠
- p.Gly665Val Single submitter Inborn genetic diseases
- p.Gly792Ala Single submitter ⚠
- p.Gly792fs Single submitter
- p.His126Tyr Single submitter ⚠
- p.Ile246Val Single submitter Inborn genetic diseases ⚠
- p.Ile278Val Single submitter ⚠
- p.Ile403Thr Single submitter ⚠
- p.Ile406Val Single submitter ⚠
- p.Ile549Thr Single submitter ⚠
- p.Ile705Val Single submitter ⚠
- p.Leu163Phe Single submitter ⚠
- p.Leu19Val Single submitter ⚠
- p.Leu268Val Single submitter ⚠
- p.Leu288Pro Single submitter ⚠
- p.Leu431= Single submitter
- p.Leu54Arg Single submitter spinocerebellar ataxia type 28 ⚠
- p.Leu650Val Single submitter ⚠
- p.Leu728Arg Single submitter ⚠
- p.Leu772fs Single submitter
- p.Leu776Pro Single submitter ⚠
- p.Leu8Pro Single submitter ⚠
- p.Lys121Gln Single submitter spastic ataxia 5 ⚠
- p.Lys133Gln Single submitter ⚠
- p.Lys297= Single submitter spinocerebellar ataxia type 28
- p.Lys415Arg Single submitter ⚠
- p.Lys504= Single submitter
- p.Lys543Ile Single submitter ⚠
- p.Lys611Glu Single submitter ⚠
- p.Lys687Thr Single submitter ⚠
- p.Lys710Arg Single submitter ⚠
- p.Lys719Arg Single submitter spinocerebellar ataxia type 28 ⚠
- p.Lys720Thr Single submitter ⚠
- p.Lys90Glu Single submitter spinocerebellar ataxia type 28 ⚠
- p.Met145Leu Single submitter ⚠
- p.Met158Ile Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter
- p.Met257Val Single submitter ⚠
- p.Met627Leu Single submitter ⚠
- p.Met627Val Single submitter ⚠
- p.Met741Thr Single submitter ⚠
- p.Phe146Cys Single submitter Inborn genetic diseases ⚠
- p.Phe393Leu Single submitter ⚠
- p.Phe65Leu Single submitter ⚠
- p.Phe675Ser Single submitter ⚠
- p.Phe77Ile Single submitter ⚠
- p.Pro101Ser Single submitter Inborn genetic diseases ⚠
- p.Pro202Leu Single submitter ⚠
- p.Pro30Leu Single submitter spinocerebellar ataxia type 28 ⚠
- p.Pro30Thr Single submitter Inborn genetic diseases ⚠
- p.Pro401Leu Single submitter ⚠
- p.Pro610Ala Single submitter Inborn genetic diseases ⚠
- p.Pro678Leu Single submitter Inborn genetic diseases ⚠
- p.Pro688Leu Single submitter ⚠
- p.Pro69Leu Single submitter Inborn genetic diseases ⚠
- p.Pro773Ala Single submitter Inborn genetic diseases ⚠
- p.Pro78Ala Single submitter Inborn genetic diseases ⚠
- p.Pro89= Single submitter spinocerebellar ataxia type 28
- p.Ser108Pro Single submitter ⚠
- p.Ser290Asn Single submitter ⚠
- p.Ser290Ile Single submitter ⚠
- p.Ser50Gly Single submitter ⚠
- p.Ser674Tyr Single submitter ⚠
- p.Ser690Asn Single submitter ⚠
- p.Ser765= Single submitter
- p.Ser99Thr Single submitter Inborn genetic diseases ⚠
- p.Ter798Gln Single submitter
- p.Thr104Ile Single submitter ⚠
- p.Thr199Asn Single submitter Inborn genetic diseases ⚠
- p.Thr205Ile Single submitter Inborn genetic diseases ⚠
- p.Thr281Ile Single submitter ⚠
- p.Thr361Ala Single submitter ⚠
- p.Thr444Ala Single submitter ⚠
- p.Thr499Ile Single submitter ⚠
- p.Thr560Met Single submitter ⚠
- p.Thr56Arg Single submitter ⚠
- p.Thr644Ala Single submitter ⚠
- p.Thr654Asn Single submitter ⚠
- p.Thr717Ile Single submitter ⚠
- p.Trp15Ser Single submitter ⚠
- p.Tyr211Cys Single submitter ⚠
- p.Tyr269Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr605Cys Single submitter ⚠
- p.Tyr616His Single submitter ⚠
- p.Tyr616Phe Single submitter ⚠
- p.Tyr62Asp Single submitter ⚠
- p.Tyr62His Single submitter Inborn genetic diseases ⚠
- p.Tyr658Cys Single submitter ⚠
- p.Tyr709His Single submitter ⚠
- p.Tyr756Cys Single submitter ⚠
- p.Val372Ile Single submitter ⚠
- p.Val372Phe Single submitter ⚠
- p.Val389Gly Single submitter Inborn genetic diseases ⚠
- p.Val448del Single submitter
- p.Val489Ile Single submitter ⚠
- p.Val562Leu Single submitter ⚠
- p.Val594Ile Single submitter ⚠
- p.Val701Ile Single submitter ⚠
- p.Val723Leu Single submitter ⚠
- c.1426+25_1426+30dup No assertion criteria
- c.292+1G>A No assertion criteria inherited retinal dystrophy
- p.Leu23Phe No assertion criteria AFG3L2-related disorder ⚠
- p.Leu288= No assertion criteria inherited retinal dystrophy
- p.Leu715Phe No assertion criteria spinocerebellar ataxia type 28 ⚠
- p.Lys141Arg No assertion criteria AFG3L2-related disorder ⚠