LONP1 — 1085 ClinVar variants
All ClinVar germline LONP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 427 flagged for review →
11 Pathogenic · 14 Likely pathogenic · 89 Conflicting · 78 Benign · 29 Benign/Likely benign · 492 Likely benign · 372 Uncertain significance
Full LONP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 427
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 59
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
LONP1 p.Ala229Val
Conflicting
Single submitter
CODAS syndrome
- LONP1 p.Ala256Val Conflicting Single submitter
-
LONP1 p.Ala337Val
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Ala606Val
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Ala670Val
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Ala829Val
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Ala831Thr
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Ala848Thr
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Ala905Thr
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Ala914Asp
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Ala952Val
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg205Cys
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg205His
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg20Trp
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Arg212Lys Conflicting Single submitter
-
LONP1 p.Arg21Gly
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Arg392Cys Conflicting Single submitter
-
LONP1 p.Arg392His
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg500Cys
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg500His
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Arg904His Conflicting Single submitter
-
LONP1 p.Arg940Gln
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Asn450Ser
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Asp248Asn Conflicting Single submitter
-
LONP1 p.Asp944Asn
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Gln575His
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Gln664Glu
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Gln951His
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Glu225Lys
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Glu249Lys
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Glu441Lys
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Glu647Lys
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Glu950Asp
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Gly28Ala
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Gly99Asp
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.His938Tyr
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Ile468Val
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Leu266Val
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Pro50Ser
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Pro613Ser
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Pro676Ser
Conflicting
Single submitter
neurodevelopmental disorder
-
LONP1 p.Ser467Cys
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Ser734Phe
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Ser80Leu
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Thr263Ile
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Thr638Met
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Thr642Met
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Thr697Met
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Trp55Arg
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Tyr7His
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Val208Ile Conflicting Single submitter
-
LONP1 p.Val270Met
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Val497Ile
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Val626Met
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Val628Met
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Val662Gly
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Val735Met
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Val750Met
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Val861Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 252
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 252
- LONP1 p.Ala26Pro Uncertain significance Multiple submitters
- LONP1 p.Ala27Pro Uncertain significance Multiple submitters
-
LONP1 p.Ala27Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Ala901Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Arg15Pro
Uncertain significance
Multiple submitters
CODAS syndrome
- LONP1 p.Arg301Gln Uncertain significance Multiple submitters
-
LONP1 p.Arg424Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Arg546His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LONP1 p.Arg705Cys Uncertain significance Multiple submitters
-
LONP1 p.Arg874Gln
Uncertain significance
Multiple submitters
LONP1-related disorder
-
LONP1 p.Asn354Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LONP1 p.Asp333Asn Uncertain significance Multiple submitters
- LONP1 p.Cys637Gly Uncertain significance Multiple submitters
-
LONP1 p.Glu228Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Glu440Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Gly28Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.His828Tyr
Uncertain significance
Multiple submitters
CODAS syndrome
-
LONP1 p.Ile300Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Ile927Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Leu10Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Leu39Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Leu465Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Leu480Val
Uncertain significance
Multiple submitters
CODAS syndrome
-
LONP1 p.Leu681Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LONP1 p.Lys581Arg Uncertain significance Multiple submitters
-
LONP1 p.Met569Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Pro51Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Pro585Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LONP1 p.Pro603Leu Uncertain significance Multiple submitters
-
LONP1 p.Pro948Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Ser604Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Ser605Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Ser776Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Thr466Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Val429Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LONP1 p.Val434Ile Uncertain significance Multiple submitters
- LONP1 p.Val936Met Uncertain significance Multiple submitters
- LONP1 p.Ala14Thr Uncertain significance Single submitter
- LONP1 p.Ala246Val Uncertain significance Single submitter
- LONP1 p.Ala252Ser Uncertain significance Single submitter
- LONP1 p.Ala259Ser Uncertain significance Single submitter
- LONP1 p.Ala341Pro Uncertain significance Single submitter
- LONP1 p.Ala37Thr Uncertain significance Single submitter
- LONP1 p.Ala416Thr Uncertain significance Single submitter
- LONP1 p.Ala53Val Uncertain significance Single submitter
-
LONP1 p.Ala617Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Ala617Val Uncertain significance Single submitter
- LONP1 p.Ala678Gly Uncertain significance Single submitter
- LONP1 p.Ala680Thr Uncertain significance Single submitter
-
LONP1 p.Ala680Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Ala772Ser Uncertain significance Single submitter
-
LONP1 p.Ala821Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Ala831Pro Uncertain significance Single submitter
- LONP1 p.Ala856Thr Uncertain significance Single submitter
- LONP1 p.Ala863Ser Uncertain significance Single submitter
- LONP1 p.Ala902Thr Uncertain significance Single submitter
-
LONP1 p.Ala905Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Ala914Ser Uncertain significance Single submitter
- LONP1 p.Ala954Ser Uncertain significance Single submitter
- LONP1 p.Arg205Leu Uncertain significance Single submitter
- LONP1 p.Arg236His Uncertain significance Single submitter
- LONP1 p.Arg253Gly Uncertain significance Single submitter
-
LONP1 p.Arg301Pro
Uncertain significance
Single submitter
LONP1-related disorder
-
LONP1 p.Arg323Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Arg358Pro Uncertain significance Single submitter
-
LONP1 p.Arg422Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Arg459Cys Uncertain significance Single submitter
- LONP1 p.Arg534Gly Uncertain significance Single submitter
- LONP1 p.Arg546Cys Uncertain significance Single submitter
-
LONP1 p.Arg57Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Arg721Gly Uncertain significance Single submitter
- LONP1 p.Arg721Trp Uncertain significance Single submitter
- LONP1 p.Arg755Gly Uncertain significance Single submitter
-
LONP1 p.Arg786Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Arg815Gly Uncertain significance Single submitter
- LONP1 p.Arg815His Uncertain significance Single submitter
- LONP1 p.Arg822Thr Uncertain significance Single submitter
- LONP1 p.Asn174Ser Uncertain significance Single submitter
- LONP1 p.Asn327His Uncertain significance Single submitter
- LONP1 p.Asn354Asp Uncertain significance Single submitter
- LONP1 p.Asn541Thr Uncertain significance Single submitter
- LONP1 p.Asn616Ser Uncertain significance Single submitter
- LONP1 p.Asn616Thr Uncertain significance Single submitter
-
LONP1 p.Asn618Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Asn876Ser Uncertain significance Single submitter
- LONP1 p.Asp172Asn Uncertain significance Single submitter
- LONP1 p.Asp326Asn Uncertain significance Single submitter
- LONP1 p.Asp326His Uncertain significance Single submitter
- LONP1 p.Asp436Ala Uncertain significance Single submitter
-
LONP1 p.Asp439Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Asp490Asn Uncertain significance Single submitter
- LONP1 p.Asp496Asn Uncertain significance Single submitter
- LONP1 p.Asp612Ala Uncertain significance Single submitter
- LONP1 p.Asp621Glu Uncertain significance Single submitter
- LONP1 p.Asp758Ala Uncertain significance Single submitter
-
LONP1 p.Asp789Asn
Uncertain significance
Single submitter
CODAS syndrome
-
LONP1 p.Asp795Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Asp919Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Asp922Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Asp944His Uncertain significance Single submitter
- LONP1 p.Asp949Glu Uncertain significance Single submitter
- LONP1 p.Cys16Trp Uncertain significance Single submitter
- LONP1 p.Cys520Ser Uncertain significance Single submitter
- LONP1 p.Cys576Arg Uncertain significance Single submitter
-
LONP1 p.Cys909Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Gln284His Uncertain significance Single submitter
- LONP1 p.Glu180Lys Uncertain significance Single submitter
- LONP1 p.Glu221Lys Uncertain significance Single submitter
- LONP1 p.Glu265Lys Uncertain significance Single submitter
-
LONP1 p.Glu274Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Glu288Lys Uncertain significance Single submitter
- LONP1 p.Glu342Asp Uncertain significance Single submitter
- LONP1 p.Glu352Asp Uncertain significance Single submitter
- LONP1 p.Glu476Lys Uncertain significance Single submitter
- LONP1 p.Glu503Gln Uncertain significance Single submitter
- LONP1 p.Glu609Asp Uncertain significance Single submitter
- LONP1 p.Glu614Asp Uncertain significance Single submitter
-
LONP1 p.Glu665Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Glu740Ala Uncertain significance Single submitter
- LONP1 p.Glu87Gln Uncertain significance Single submitter
- LONP1 p.Glu915Gln Uncertain significance Single submitter
- LONP1 p.Glu91Lys Uncertain significance Single submitter
- LONP1 p.Glu929Asp Uncertain significance Single submitter
- LONP1 p.Glu937Gln Uncertain significance Single submitter
- LONP1 p.Glu950Lys Uncertain significance Single submitter
-
LONP1 p.Glu953Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Gly165Ser Uncertain significance Single submitter
- LONP1 p.Gly201Arg Uncertain significance Single submitter
- LONP1 p.Gly242Val Uncertain significance Single submitter
- LONP1 p.Gly29Arg Uncertain significance Single submitter
- LONP1 p.Gly29Glu Uncertain significance Single submitter
- LONP1 p.Gly408Ser Uncertain significance Single submitter
- LONP1 p.Gly567Asp Uncertain significance Single submitter
-
LONP1 p.Gly56Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Gly598Asp Uncertain significance Single submitter
- LONP1 p.Gly708Ser Uncertain significance Single submitter
- LONP1 p.Gly775Ser Uncertain significance Single submitter
-
LONP1 p.Gly77Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Gly807Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Gly81Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Gly81Arg Uncertain significance Single submitter
- LONP1 p.Gly853Ser Uncertain significance Single submitter
- LONP1 p.Gly881Ala Uncertain significance Single submitter
- LONP1 p.Gly88Asp Uncertain significance Single submitter
-
LONP1 p.Gly906Trp
Uncertain significance
Single submitter
CODAS syndrome
- LONP1 p.His254Gln Uncertain significance Single submitter
-
LONP1 p.His451Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.His622Tyr Uncertain significance Single submitter
- LONP1 p.His828Gln Uncertain significance Single submitter
- LONP1 p.Ile216Leu Uncertain significance Single submitter
Predictors split 115
The independent predictors disagree with each other — read with care.
-
LONP1 p.Ala337Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Arg422Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LONP1 p.Arg538His Likely benign Multiple submitters
-
LONP1 p.Arg679Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- LONP1 p.Arg679His Uncertain significance Multiple submitters
-
LONP1 p.Glu846Lys
Uncertain significance
Multiple submitters
CODAS syndrome
-
LONP1 p.Glu929Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Lys688Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Thr644Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
LONP1 p.Val437Ile
Benign/Likely benign
Multiple submitters
CODAS syndrome
-
LONP1 p.Val695Met
Uncertain significance
Multiple submitters
CODAS syndrome
- LONP1 p.Val719Leu Uncertain significance Multiple submitters
-
LONP1 p.Ala192Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Ala2Val Uncertain significance Single submitter
- LONP1 p.Ala362Val Likely benign Single submitter
- LONP1 p.Ala772Thr Benign Single submitter
- LONP1 p.Ala814Val Likely benign Single submitter
-
LONP1 p.Ala829Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Ala946Thr
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Arg158Gly Uncertain significance Single submitter
-
LONP1 p.Arg158His
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Arg158Ser Uncertain significance Single submitter
-
LONP1 p.Arg236Cys
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Arg323Gln Uncertain significance Single submitter
-
LONP1 p.Arg381Gln
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Arg381Trp Uncertain significance Single submitter
- LONP1 p.Arg422Gln Likely benign Single submitter
- LONP1 p.Arg482Trp Likely benign Single submitter
-
LONP1 p.Arg511Cys
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg511His
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg534Cys
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg534His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg538Cys
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Arg650Gln
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Arg672Cys
Conflicting
Single submitter
CODAS syndrome
- LONP1 p.Arg672His Uncertain significance Single submitter
-
LONP1 p.Arg815Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Asn132Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Asn327Lys Uncertain significance Single submitter
-
LONP1 p.Asn460Ser
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Asn618His Uncertain significance Single submitter
- LONP1 p.Asn618Lys Uncertain significance Single submitter
- LONP1 p.Asn741Lys Uncertain significance Single submitter
-
LONP1 p.Asp171Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Asp177Asn Likely benign Single submitter
- LONP1 p.Asp643Ala Uncertain significance Single submitter
- LONP1 p.Asp789Tyr Likely benign Single submitter
-
LONP1 p.Gln198His
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Gln322Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Gln377Arg Uncertain significance Single submitter
- LONP1 p.Glu151Lys Likely benign Single submitter
- LONP1 p.Glu287Asp Uncertain significance Single submitter
-
LONP1 p.Glu287Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Glu342Lys Likely benign Single submitter
- LONP1 p.Glu418Lys Uncertain significance Single submitter
-
LONP1 p.Glu731Lys
Conflicting
Single submitter
CODAS syndrome
-
LONP1 p.Glu808Lys
Uncertain significance
Single submitter
CODAS syndrome
-
LONP1 p.Glu915Lys
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Glu929Lys Likely benign Single submitter
- LONP1 p.Glu941Gly Uncertain significance Single submitter
-
LONP1 p.Gly596Ser
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Gly683Ser Uncertain significance Single submitter
-
LONP1 p.Gly730Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Gly730Ser Uncertain significance Single submitter
- LONP1 p.Gly906Glu Uncertain significance Single submitter
- LONP1 p.His195Arg Uncertain significance Single submitter
-
LONP1 p.His195Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.His211Gln Likely benign Single submitter
- LONP1 p.His344Arg Uncertain significance Single submitter
- LONP1 p.His344Gln Uncertain significance Single submitter
- LONP1 p.His433Arg Likely benign Single submitter
- LONP1 p.Ile141Val Uncertain significance Single submitter
-
LONP1 p.Ile304Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Ile505Val Uncertain significance Single submitter
- LONP1 p.Ile589Leu Likely benign Single submitter
-
LONP1 p.Ile589Val
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Ile816Val
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Ile945Thr Likely benign Single submitter
-
LONP1 p.Leu306Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Leu315Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Leu375Met Uncertain significance Single submitter
-
LONP1 p.Leu502Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Leu867Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Lys234Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Lys368Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Lys632Glu Uncertain significance Single submitter
- LONP1 p.Lys714Gln Uncertain significance Single submitter
- LONP1 p.Lys917Asn Likely benign Single submitter
- LONP1 p.Met334Val Uncertain significance Single submitter
-
LONP1 p.Met569Leu
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Met655Ile
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Pro627Ser Uncertain significance Single submitter
-
LONP1 p.Pro648Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Pro761Leu
Conflicting
Single submitter
CODAS syndrome
- LONP1 p.Pro830Ser Uncertain significance Single submitter
- LONP1 p.Pro872Ser Uncertain significance Single submitter
- LONP1 p.Ser176Leu Conflicting Single submitter
- LONP1 p.Ser693Leu Uncertain significance Single submitter
-
LONP1 p.Thr130Ile
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Thr188Met Benign Single submitter
-
LONP1 p.Thr582Met
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Thr642Ala
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Thr642Arg Likely benign Single submitter
- LONP1 p.Thr738Met Likely benign Single submitter
- LONP1 p.Thr777Met Likely benign Single submitter
-
LONP1 p.Thr908Met
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Tyr522Cys Likely benign Single submitter
-
LONP1 p.Tyr623Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- LONP1 p.Tyr818Ser Uncertain significance Single submitter
-
LONP1 p.Val157Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Val297Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
LONP1 p.Val507Ile
Conflicting
Single submitter
Inborn genetic diseases
- LONP1 p.Val695Leu Uncertain significance Single submitter
-
LONP1 p.Val746Met
Conflicting
Single submitter
Inborn genetic diseases
-
LONP1 p.Val297Met
Uncertain significance
No assertion criteria
CODAS syndrome
All LONP1 variants
Pathogenic 11
- c.2154+1G>C Single submitter LONP1-related disorder
- p.Glu543fs Single submitter
- p.Gly28fs Single submitter
- p.Lys472fs Single submitter Fetal anomalies with a likely genetic cause
- p.Pro267fs Single submitter
- p.Trp464Ter Single submitter Inborn genetic diseases
- p.Tyr725Ter Single submitter
- p.Ala724Val No assertion criteria CODAS syndrome
- p.Arg301Gly No assertion criteria
- p.Arg785Gly No assertion criteria CODAS syndrome
- p.Ser631Tyr No assertion criteria CODAS syndrome
Likely pathogenic 14
- p.Arg301Trp Multiple submitters Epilepsy of infancy with migrating focal seizures
- c.1147dup Single submitter CODAS syndrome
- c.2154+2T>C Single submitter
- c.518+1G>A Single submitter
- p.Ala670Ser Single submitter ⚠
- p.Arg358Trp Single submitter
- p.Arg542Ter Single submitter
- p.Arg721fs Single submitter
- p.Glu287Ter Single submitter
- p.Leu306Trp Single submitter LONP1-related disorder
- p.Leu696fs Single submitter CODAS syndrome
- p.Trp55fs Single submitter
- p.Tyr939His Single submitter CODAS syndrome
- p.Lys393Ter No assertion criteria LONP1-related disorder
Conflicting classifications of pathogenicity 89
- c.1896+3G>T Single submitter CODAS syndrome
- c.2013+6C>T Single submitter
- c.2154+3G>A Single submitter
- c.2155-6G>T Single submitter Inborn genetic diseases
- p.Ala229Val Single submitter CODAS syndrome ⚠
- p.Ala256Val Single submitter ⚠
- p.Ala337Val Single submitter Inborn genetic diseases ⚠
- p.Ala606Val Single submitter CODAS syndrome ⚠
- p.Ala670Val Single submitter CODAS syndrome ⚠
- p.Ala829Val Single submitter Inborn genetic diseases ⚠
- p.Ala831Thr Single submitter Inborn genetic diseases ⚠
- p.Ala848Thr Single submitter CODAS syndrome ⚠
- p.Ala905Thr Single submitter Inborn genetic diseases ⚠
- p.Ala914Asp Single submitter Inborn genetic diseases ⚠
- p.Ala946Thr Single submitter Inborn genetic diseases ⚠
- p.Ala952Val Single submitter Inborn genetic diseases ⚠
- p.Arg158His Single submitter Inborn genetic diseases ⚠
- p.Arg205Cys Single submitter Inborn genetic diseases ⚠
- p.Arg205His Single submitter Inborn genetic diseases ⚠
- p.Arg20Trp Single submitter Inborn genetic diseases ⚠
- p.Arg212Lys Single submitter ⚠
- p.Arg21Gly Single submitter Inborn genetic diseases ⚠
- p.Arg236Cys Single submitter Inborn genetic diseases ⚠
- p.Arg381Gln Single submitter Inborn genetic diseases ⚠
- p.Arg392Cys Single submitter ⚠
- p.Arg392His Single submitter Inborn genetic diseases ⚠
- p.Arg424His Single submitter neurodevelopmental disorder
- p.Arg500Cys Single submitter Inborn genetic diseases ⚠
- p.Arg500His Single submitter Inborn genetic diseases ⚠
- p.Arg511Cys Single submitter Inborn genetic diseases ⚠
- p.Arg511His Single submitter Inborn genetic diseases ⚠
- p.Arg534Cys Single submitter Inborn genetic diseases ⚠
- p.Arg538Cys Single submitter CODAS syndrome ⚠
- p.Arg650Gln Single submitter Inborn genetic diseases ⚠
- p.Arg672Cys Single submitter CODAS syndrome ⚠
- p.Arg904His Single submitter ⚠
- p.Arg940Gln Single submitter Inborn genetic diseases ⚠
- p.Asn450Ser Single submitter Inborn genetic diseases ⚠
- p.Asn460Ser Single submitter Inborn genetic diseases ⚠
- p.Asp248Asn Single submitter ⚠
- p.Asp944Asn Single submitter Inborn genetic diseases ⚠
- p.Gln575His Single submitter Inborn genetic diseases ⚠
- p.Gln664Glu Single submitter Inborn genetic diseases ⚠
- p.Gln951His Single submitter Inborn genetic diseases ⚠
- p.Glu225Lys Single submitter Inborn genetic diseases ⚠
- p.Glu249Lys Single submitter Inborn genetic diseases ⚠
- p.Glu441Lys Single submitter CODAS syndrome ⚠
- p.Glu647Lys Single submitter CODAS syndrome ⚠
- p.Glu731Lys Single submitter CODAS syndrome ⚠
- p.Glu915Lys Single submitter Inborn genetic diseases ⚠
- p.Glu950Asp Single submitter Inborn genetic diseases ⚠
- p.Gly28Ala Single submitter Inborn genetic diseases ⚠
- p.Gly596Ser Single submitter Inborn genetic diseases ⚠
- p.Gly99Asp Single submitter CODAS syndrome ⚠
- p.His938Tyr Single submitter CODAS syndrome ⚠
- p.Ile468Val Single submitter Inborn genetic diseases ⚠
- p.Ile589Val Single submitter Inborn genetic diseases ⚠
- p.Leu266Val Single submitter Inborn genetic diseases ⚠
- p.Met569Leu Single submitter Inborn genetic diseases ⚠
- p.Met655Ile Single submitter Inborn genetic diseases ⚠
- p.Pro50Ser Single submitter Inborn genetic diseases ⚠
- p.Pro613Ser Single submitter Inborn genetic diseases ⚠
- p.Pro676Ser Single submitter neurodevelopmental disorder ⚠
- p.Pro761Leu Single submitter CODAS syndrome ⚠
- p.Ser176Leu Single submitter ⚠
- p.Ser467Cys Single submitter Inborn genetic diseases ⚠
- p.Ser734Phe Single submitter Inborn genetic diseases ⚠
- p.Ser80Leu Single submitter Inborn genetic diseases ⚠
- p.Thr130Ile Single submitter Inborn genetic diseases ⚠
- p.Thr263Ile Single submitter Inborn genetic diseases ⚠
- p.Thr582Met Single submitter Inborn genetic diseases ⚠
- p.Thr638Met Single submitter CODAS syndrome ⚠
- p.Thr642Ala Single submitter Inborn genetic diseases ⚠
- p.Thr642Met Single submitter CODAS syndrome ⚠
- p.Thr697Met Single submitter Inborn genetic diseases ⚠
- p.Thr908Met Single submitter Inborn genetic diseases ⚠
- p.Trp55Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr7His Single submitter Inborn genetic diseases ⚠
- p.Val208Ile Single submitter ⚠
- p.Val270Met Single submitter Inborn genetic diseases ⚠
- p.Val497Ile Single submitter Inborn genetic diseases ⚠
- p.Val507Ile Single submitter Inborn genetic diseases ⚠
- p.Val626Met Single submitter Inborn genetic diseases ⚠
- p.Val628Met Single submitter CODAS syndrome ⚠
- p.Val662Gly Single submitter CODAS syndrome ⚠
- p.Val735Met Single submitter Inborn genetic diseases ⚠
- p.Val746Met Single submitter Inborn genetic diseases ⚠
- p.Val750Met Single submitter Inborn genetic diseases ⚠
- p.Val861Ile Single submitter Inborn genetic diseases ⚠
Benign 78
- c.1062+80C>T Multiple submitters
- c.1063-50A>G Multiple submitters
- c.1686-52T>C Multiple submitters
- c.1896+15T>C Multiple submitters CODAS syndrome
- c.2155-67G>A Multiple submitters
- c.2320+49C>T Multiple submitters
- c.2704-92C>G Multiple submitters
- c.639-95G>A Multiple submitters
- c.870+7C>T Multiple submitters
- c.871-306G>A Multiple submitters
- c.871-59C>T Multiple submitters
- p.Ala506= Multiple submitters
- p.Ala821= Multiple submitters
- p.Ala829Thr Multiple submitters
- p.Arg241Gln Multiple submitters
- p.Ile589= Multiple submitters
- p.Leu24Val Multiple submitters
- p.Ser659= Multiple submitters
- p.Thr644= Multiple submitters
- p.Val911Ile Multiple submitters
- c.1367+136C>T Single submitter
- c.1367+166A>G Single submitter
- c.1367+294C>A Single submitter
- c.1367+295_1367+296dup Single submitter
- c.1367+295dup Single submitter
- c.1367+314del Single submitter
- c.1368-7del Single submitter
- c.1685+262C>G Single submitter
- c.1686-16C>T Single submitter
- c.1686-194C>T Single submitter
- c.1896+3G>A Single submitter
- c.1897-9C>T Single submitter
- c.2013+118_2013+119insCGC Single submitter
- c.2154+7G>A Single submitter
- c.2320+15G>C Single submitter
- c.2320+167G>C Single submitter
- c.2321-178A>T Single submitter
- c.2703+20C>A Single submitter
- c.2703+286A>G Single submitter
- c.518+15dup Single submitter
- c.518+285T>A Single submitter
- c.638+167C>T Single submitter
- c.871-67dup Single submitter
- c.933-7C>A Single submitter
- p.Ala568= Single submitter
- p.Ala732= Single submitter
- p.Ala772Thr Single submitter ⚠
- p.Ala78Val Single submitter
- p.Ala901= Single submitter
- p.Arg597Gln Single submitter
- p.Arg822= Single submitter
- p.Asp479= Single submitter
- p.Asp791= Single submitter
- p.Gln219Leu Single submitter
- p.Gln827= Single submitter
- p.Gly42Ser Single submitter
- p.Gly56= Single submitter
- p.Gly567= Single submitter
- p.Gly763= Single submitter
- p.Gly81= Single submitter
- p.Gly853= Single submitter
- p.Ile900= Single submitter
- p.Leu24= Single submitter
- p.Leu465= Single submitter
- p.Lys917Gln Single submitter
- p.Pro762= Single submitter
- p.Pro845= Single submitter
- p.Ser453= Single submitter
- p.Ser687= Single submitter
- p.Ser729= Single submitter
- p.Ser729Thr Single submitter
- p.Thr188= Single submitter
- p.Thr188Met Single submitter ⚠
- p.Thr642= Single submitter
- p.Tyr565= Single submitter
- p.Tyr725= Single submitter
- p.Val278= Single submitter
- p.Val750= Single submitter
Benign/Likely benign 29
- c.1685+12C>G Multiple submitters
- c.1773+9G>A Multiple submitters
- c.1896+12G>C Multiple submitters
- c.2014-15C>T Multiple submitters
- c.2155-7C>T Multiple submitters
- c.2538+6C>T Multiple submitters
- c.2704-4C>A Multiple submitters
- p.Ala160Thr Multiple submitters Inborn genetic diseases
- p.Ala90Pro Multiple submitters Inborn genetic diseases
- p.Asp248= Multiple submitters
- p.Asp919= Multiple submitters
- p.Glu87Asp Multiple submitters
- p.Gly6= Multiple submitters
- p.Gly730= Multiple submitters
- p.Gly798Ser Multiple submitters
- p.His828= Multiple submitters
- p.Leu24Met Multiple submitters
- p.Leu338= Multiple submitters
- p.Lys244del Multiple submitters
- p.Lys572= Multiple submitters
- p.Met23Val Multiple submitters
- p.Pro570= Multiple submitters
- p.Ser343= Multiple submitters
- p.Ser855= Multiple submitters
- p.Thr886Met Multiple submitters Inborn genetic diseases
- p.Val437Ile Multiple submitters CODAS syndrome ⚠
- p.Val497= Multiple submitters
- p.Val641Ile Multiple submitters
- p.Val675Leu Multiple submitters
Likely benign 492
Showing the top 300 by review status; the full set is in the sitemap.
- c.1062+72C>T Multiple submitters
- c.1146+19C>T Multiple submitters
- c.1368-112G>A Multiple submitters
- c.1506+18C>T Multiple submitters
- c.1773+17C>A Multiple submitters
- c.1773+18C>T Multiple submitters
- c.1773+48G>A Multiple submitters
- c.1773+70G>A Multiple submitters
- c.1774-148C>T Multiple submitters
- c.1774-70T>C Multiple submitters
- c.1897-8G>A Multiple submitters
- c.2154+15C>T Multiple submitters
- c.2154+97G>A Multiple submitters
- c.2320+15G>A Multiple submitters
- c.2320+7G>A Multiple submitters
- c.2704-14G>C Multiple submitters
- c.2704-9T>C Multiple submitters
- c.429+23C>T Multiple submitters
- c.638+13_638+29del Multiple submitters
- c.870+54T>C Multiple submitters
- c.932+75C>T Multiple submitters
- c.*110C>T Multiple submitters
- p.Ala246= Multiple submitters
- p.Ala481= Multiple submitters
- p.Ala60Val Multiple submitters Inborn genetic diseases
- p.Ala689= Multiple submitters
- p.Ala956= Multiple submitters
- p.Arg21= Multiple submitters
- p.Arg538His Multiple submitters ⚠
- p.Asp348= Multiple submitters
- p.Asp412= Multiple submitters
- p.Asp590= Multiple submitters
- p.Asp625= Multiple submitters
- p.Asp694= Multiple submitters
- p.Asp833= Multiple submitters
- p.Gln399= Multiple submitters
- p.Gln64= Multiple submitters
- p.Gly106= Multiple submitters
- p.Gly165= Multiple submitters
- p.Gly408= Multiple submitters
- p.Gly906= Multiple submitters
- p.Gly95Ser Multiple submitters
- p.Gly96= Multiple submitters
- p.His433= Multiple submitters
- p.Ile595= Multiple submitters
- p.Leu159= Multiple submitters
- p.Leu292= Multiple submitters
- p.Leu375= Multiple submitters
- p.Leu768= Multiple submitters
- p.Lys726= Multiple submitters
- p.Phe820= Multiple submitters
- p.Pro22= Multiple submitters
- p.Pro255= Multiple submitters
- p.Pro648= Multiple submitters
- p.Pro749= Multiple submitters
- p.Pro761= Multiple submitters
- p.Ser176= Multiple submitters
- p.Ser467= Multiple submitters
- p.Ser604= Multiple submitters
- p.Ser605= Multiple submitters
- p.Thr130= Multiple submitters
- p.Thr466= Multiple submitters
- p.Thr582= Multiple submitters
- p.Thr638= Multiple submitters
- p.Thr738= Multiple submitters
- p.Thr837= Multiple submitters
- p.Thr862= Multiple submitters
- p.Thr928= Multiple submitters
- p.Tyr661= Multiple submitters
- p.Val486= Multiple submitters
- p.Val764= Multiple submitters
- c.1062+10C>T Single submitter
- c.1062+11G>A Single submitter
- c.1062+16C>A Single submitter
- c.1063-17C>T Single submitter
- c.1063-274G>A Single submitter
- c.1063-6C>T Single submitter
- c.1063-8C>G Single submitter
- c.1146+10C>T Single submitter
- c.1146+17G>A Single submitter
- c.1146+20G>A Single submitter
- c.1146+7C>T Single submitter
- c.1146+8C>T Single submitter
- c.1146+9G>A Single submitter
- c.1147-12C>T Single submitter
- c.1147-13C>T Single submitter
- c.1147-15C>T Single submitter
- c.1147-343C>T Single submitter
- c.1147-6C>G Single submitter
- c.1147-9A>G Single submitter
- c.1367+15C>T Single submitter
- c.1367+16G>A Single submitter
- c.1367+20C>T Single submitter
- c.1367+313_1367+314del Single submitter
- c.1367+7G>A Single submitter
- c.1368-10C>T Single submitter
- c.1368-12G>T Single submitter
- c.1368-13T>C Single submitter
- c.1368-17C>T Single submitter
- c.1368-275A>G Single submitter
- c.1368-285C>T Single submitter
- c.1368-4G>A Single submitter
- c.1368-8C>T Single submitter
- c.1368-9C>T Single submitter
- c.1507-4G>A Single submitter
- c.1507-8G>T Single submitter
- c.1507-9_1507-8insTT Single submitter
- c.1685+179C>A Single submitter
- c.1685+180C>T Single submitter
- c.1686-15G>A Single submitter
- c.1686-55C>T Single submitter
- c.1686-5C>T Single submitter
- c.1686-7C>T Single submitter
- c.1773+13_1773+14del Single submitter
- c.1773+148C>G Single submitter
- c.1773+18del Single submitter
- c.1773+19G>A Single submitter
- c.1773+34_1773+35insACCCAGAGCCCCAGGCAACCCTG Single submitter
- c.1773+8C>T Single submitter
- c.1774-10G>A Single submitter
- c.1774-14G>C Single submitter
- c.1774-18del Single submitter
- c.1774-24ACC[3] Single submitter
- c.1774-6C>T Single submitter
- c.1774-9C>T Single submitter
- c.1896+10C>G Single submitter
- c.1896+10C>T Single submitter
- c.1896+11T>C Single submitter
- c.1896+12G>T Single submitter
- c.1896+15_1896+16inv Single submitter
- c.1896+15T>G Single submitter
- c.1896+17G>A Single submitter
- c.1896+17G>C Single submitter
- c.1896+18G>T Single submitter
- c.1897-11G>A Single submitter
- c.1897-12C>T Single submitter
- c.1897-14G>A Single submitter
- c.1897-18C>T Single submitter
- c.1897-5C>T Single submitter
- c.1897-6C>T Single submitter
- c.1897-7C>A Single submitter
- c.2013+16C>G Single submitter
- c.2013+16C>T Single submitter
- c.2013+19C>T Single submitter
- c.2013+20A>G Single submitter
- c.2013+233C>T Single submitter
- c.2013+320G>A Single submitter
- c.2013+7C>G Single submitter
- c.2013+9A>G Single submitter
- c.2014-12T>G Single submitter
- c.2014-15C>A Single submitter
- c.2014-210T>C Single submitter
- c.2014-4G>C Single submitter
- c.2154+101_2155-87dup Single submitter
- c.2154+16G>A Single submitter
- c.2154+18C>T Single submitter
- c.2154+5_2154+6insT Single submitter
- c.2155-10G>A Single submitter
- c.2155-19T>A Single submitter
- c.2155-19T>G Single submitter
- c.2155-20G>T Single submitter
- c.2155-56_2155-35del Single submitter
- c.2155-6G>A Single submitter
- c.2320+10G>C Single submitter
- c.2320+14C>T Single submitter
- c.2320+19G>T Single submitter
- c.2320+8T>C Single submitter
- c.2321-11A>G Single submitter
- c.2321-20C>T Single submitter
- c.2321-9C>T Single submitter
- c.2538+15C>T Single submitter
- c.2538+16G>A Single submitter
- c.2538+19C>G Single submitter
- c.2538+19C>T Single submitter
- c.2538+7G>A Single submitter
- c.2538+8C>A Single submitter
- c.2538+8C>T Single submitter
- c.2539-12A>G Single submitter
- c.2539-13C>T Single submitter
- c.2539-14A>C Single submitter
- c.2539-15C>T Single submitter
- c.2539-16C>T Single submitter
- c.2703+15A>G Single submitter
- c.2703+17C>G Single submitter
- c.2703+20C>G Single submitter
- c.2703+20C>T Single submitter
- c.2703+210C>T Single submitter
- c.2703+92C>G Single submitter
- c.2704-10C>T Single submitter
- c.2704-159G>A Single submitter
- c.2704-18C>A Single submitter
- c.429+280G>C Single submitter
- c.429+8G>A Single submitter
- c.430-13A>G Single submitter
- c.430-40del Single submitter
- c.430-49_430-41dup Single submitter
- c.518+7G>T Single submitter
- c.518+8_518+9del Single submitter
- c.519-18T>C Single submitter
- c.519-222C>T Single submitter
- c.519-5del Single submitter
- c.638+13C>G Single submitter
- c.638+13C>T Single submitter
- c.638+14G>A Single submitter
- c.638+336A>T Single submitter
- c.639-10C>T Single submitter
- c.639-7G>C Single submitter
- c.870+13G>A Single submitter
- c.870+17C>T Single submitter
- c.870+18G>A Single submitter
- c.870+18G>T Single submitter
- c.870+20A>G Single submitter
- c.870+8C>A Single submitter
- c.870+8C>T Single submitter
- c.871-13C>G Single submitter
- c.871-5G>C Single submitter
- c.932+157T>C Single submitter
- c.932+15G>T Single submitter
- c.932+202T>C Single submitter
- c.932+7C>T Single submitter
- c.933-5C>G Single submitter
- c.933-6C>T Single submitter
- c.-160+1G>A Single submitter CODAS syndrome
- p.Ala229= Single submitter
- p.Ala252Thr Single submitter
- p.Ala256= Single submitter
- p.Ala259Val Single submitter
- p.Ala27= Single submitter
- p.Ala336= Single submitter
- p.Ala337= Single submitter
- p.Ala34= Single submitter
- p.Ala362Val Single submitter ⚠
- p.Ala481Val Single submitter
- p.Ala539Thr Single submitter
- p.Ala617= Single submitter
- p.Ala668= Single submitter
- p.Ala670= Single submitter
- p.Ala78= Single submitter
- p.Ala814Thr Single submitter
- p.Ala814Val Single submitter ⚠
- p.Ala817= Single submitter
- p.Ala823Thr Single submitter
- p.Ala831= Single submitter
- p.Ala85= Single submitter
- p.Ala868= Single submitter
- p.Ala902= Single submitter
- p.Ala914= Single submitter
- p.Ala94= Single submitter
- p.Ala946= Single submitter
- p.Ala954= Single submitter
- p.Ala97= Single submitter
- p.Arg20= Single submitter
- p.Arg21Gln Single submitter
- p.Arg241= Single submitter
- p.Arg301= Single submitter
- p.Arg323= Single submitter
- p.Arg378= Single submitter
- p.Arg392= Single submitter
- p.Arg41Pro Single submitter
- p.Arg422Gln Single submitter ⚠
- p.Arg482Gln Single submitter
- p.Arg482Trp Single submitter ⚠
- p.Arg538= Single submitter
- p.Arg546= Single submitter
- p.Arg650= Single submitter
- p.Arg672= Single submitter
- p.Arg679= Single submitter
- p.Arg705= Single submitter
- p.Arg705His Single submitter
- p.Arg721= Single submitter
- p.Arg721Gln Single submitter
- p.Arg874Pro Single submitter
- p.Arg9= Single submitter
- p.Arg904= Single submitter
- p.Arg940Leu Single submitter
- p.Arg959= Single submitter
- p.Arg959Trp Single submitter
- p.Asn277= Single submitter
- p.Asn475= Single submitter
- p.Asn477= Single submitter
- p.Asn584= Single submitter
- p.Asn640= Single submitter
- p.Asn657= Single submitter
- p.Asn711= Single submitter
- p.Asn832Ser Single submitter
- p.Asp177Asn Single submitter ⚠
- p.Asp333= Single submitter
- p.Asp496= Single submitter
- p.Asp593= Single submitter
- p.Asp651= Single submitter
- p.Asp758= Single submitter
- p.Asp789Tyr Single submitter ⚠
- p.Asp84= Single submitter
- p.Asp852= Single submitter
- p.Asp922His Single submitter
- p.Cys46= Single submitter
- p.Cys637= Single submitter
- p.Cys682= Single submitter
- p.Cys909Tyr Single submitter
- p.Gln284= Single submitter
Uncertain significance 372
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala26Pro Multiple submitters ⚠
- p.Ala27Pro Multiple submitters ⚠
- p.Ala27Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala337Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala901Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg15Pro Multiple submitters CODAS syndrome ⚠
- p.Arg301Gln Multiple submitters ⚠
- p.Arg422Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg424Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg546His Multiple submitters Inborn genetic diseases ⚠
- p.Arg679Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg679His Multiple submitters ⚠
- p.Arg705Cys Multiple submitters ⚠
- p.Arg874Gln Multiple submitters LONP1-related disorder ⚠
- p.Asn354Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp333Asn Multiple submitters ⚠
- p.Asp922Asn Multiple submitters Inborn genetic diseases
- p.Cys637Gly Multiple submitters ⚠
- p.Glu228Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu440Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu846Lys Multiple submitters CODAS syndrome ⚠
- p.Glu929Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gly28Arg Multiple submitters Inborn genetic diseases ⚠
- p.His828Tyr Multiple submitters CODAS syndrome ⚠
- p.Ile300Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile927Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu10Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu39Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu465Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu480Val Multiple submitters CODAS syndrome ⚠
- p.Leu681Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys581Arg Multiple submitters ⚠
- p.Lys688Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met569Ile Multiple submitters Inborn genetic diseases ⚠
- p.Pro22_Arg30del Multiple submitters CODAS syndrome
- p.Pro51Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro585Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro603Leu Multiple submitters ⚠
- p.Pro891Ser Multiple submitters Inborn genetic diseases
- p.Pro948Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser604Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser605Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser776Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr286Met Multiple submitters Inborn genetic diseases
- p.Thr466Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr644Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val429Met Multiple submitters Inborn genetic diseases ⚠
- p.Val434Ile Multiple submitters ⚠
- p.Val695Met Multiple submitters CODAS syndrome ⚠
- p.Val719Leu Multiple submitters ⚠
- p.Val933Met Multiple submitters Inborn genetic diseases
- p.Val936Met Multiple submitters ⚠
- c.1062+3G>A Single submitter
- c.1063-3C>T Single submitter
- c.1367+3G>A Single submitter
- c.1368-3C>T Single submitter
- c.1773+3G>A Single submitter
- c.1773+4C>G Single submitter
- c.1773+4C>T Single submitter
- c.1774-3C>T Single submitter
- c.1896+3G>C Single submitter
- c.2013+3A>G Single submitter
- c.2320+6C>T Single submitter
- c.2703+4A>G Single submitter
- c.2704-11T>A Single submitter
- c.2704-13_2704-8del Single submitter
- c.2704-2A>G Single submitter
- c.2704-31_2706del Single submitter
- c.2704-3C>T Single submitter
- c.429+2_429+5dup Single submitter
- c.518+4A>T Single submitter
- c.639-2dup Single submitter
- c.932+2T>C Single submitter
- p.94AGG[1] Single submitter
- p.Ala14Thr Single submitter ⚠
- p.Ala192Ser Single submitter Inborn genetic diseases ⚠
- p.Ala246Val Single submitter ⚠
- p.Ala252Ser Single submitter ⚠
- p.Ala259Ser Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala341Pro Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Ala416Thr Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala617Thr Single submitter Inborn genetic diseases ⚠
- p.Ala617Val Single submitter ⚠
- p.Ala678Gly Single submitter ⚠
- p.Ala680Thr Single submitter ⚠
- p.Ala680Val Single submitter Inborn genetic diseases ⚠
- p.Ala772Ser Single submitter ⚠
- p.Ala772Val Single submitter
- p.Ala792_Asp797del Single submitter
- p.Ala821Thr Single submitter Inborn genetic diseases ⚠
- p.Ala829Gly Single submitter Inborn genetic diseases ⚠
- p.Ala831Pro Single submitter ⚠
- p.Ala856Thr Single submitter ⚠
- p.Ala863Ser Single submitter ⚠
- p.Ala902Thr Single submitter ⚠
- p.Ala905Pro Single submitter Inborn genetic diseases ⚠
- p.Ala914Ser Single submitter ⚠
- p.Ala954Ser Single submitter ⚠
- p.Arg158Gly Single submitter ⚠
- p.Arg158Ser Single submitter ⚠
- p.Arg205Leu Single submitter ⚠
- p.Arg236His Single submitter ⚠
- p.Arg253Gly Single submitter ⚠
- p.Arg301Pro Single submitter LONP1-related disorder ⚠
- p.Arg323Gln Single submitter ⚠
- p.Arg323Trp Single submitter Inborn genetic diseases ⚠
- p.Arg358Pro Single submitter ⚠
- p.Arg381Trp Single submitter ⚠
- p.Arg422Gly Single submitter Inborn genetic diseases ⚠
- p.Arg459Cys Single submitter ⚠
- p.Arg534Gly Single submitter ⚠
- p.Arg534His Single submitter Inborn genetic diseases ⚠
- p.Arg546Cys Single submitter ⚠
- p.Arg57Gln Single submitter Inborn genetic diseases ⚠
- p.Arg672His Single submitter ⚠
- p.Arg721Gly Single submitter ⚠
- p.Arg721Trp Single submitter ⚠
- p.Arg755Cys Single submitter Inborn genetic diseases
- p.Arg755Gly Single submitter ⚠
- p.Arg786Gln Single submitter Inborn genetic diseases ⚠
- p.Arg786Trp Single submitter
- p.Arg815Cys Single submitter Inborn genetic diseases ⚠
- p.Arg815Gly Single submitter ⚠
- p.Arg815His Single submitter ⚠
- p.Arg822Thr Single submitter ⚠
- p.Asn132Thr Single submitter Inborn genetic diseases ⚠
- p.Asn174Ser Single submitter ⚠
- p.Asn327His Single submitter ⚠
- p.Asn327Lys Single submitter ⚠
- p.Asn354= Single submitter
- p.Asn354Asp Single submitter ⚠
- p.Asn541Thr Single submitter ⚠
- p.Asn616Ser Single submitter ⚠
- p.Asn616Thr Single submitter ⚠
- p.Asn618His Single submitter ⚠
- p.Asn618Lys Single submitter ⚠
- p.Asn618Ser Single submitter Inborn genetic diseases ⚠
- p.Asn741Lys Single submitter ⚠
- p.Asn876Ser Single submitter ⚠
- p.Asp171Val Single submitter Inborn genetic diseases ⚠
- p.Asp172Asn Single submitter ⚠
- p.Asp326Asn Single submitter ⚠
- p.Asp326His Single submitter ⚠
- p.Asp436Ala Single submitter ⚠
- p.Asp439Asn Single submitter Inborn genetic diseases ⚠
- p.Asp490Asn Single submitter ⚠
- p.Asp496Asn Single submitter ⚠
- p.Asp612Ala Single submitter ⚠
- p.Asp621Glu Single submitter ⚠
- p.Asp643Ala Single submitter ⚠
- p.Asp758Ala Single submitter ⚠
- p.Asp789Asn Single submitter CODAS syndrome ⚠
- p.Asp795Glu Single submitter Inborn genetic diseases ⚠
- p.Asp919Ala Single submitter Inborn genetic diseases ⚠
- p.Asp922Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp944His Single submitter ⚠
- p.Asp949Glu Single submitter ⚠
- p.Cys16Trp Single submitter ⚠
- p.Cys520fs Single submitter
- p.Cys520Ser Single submitter ⚠
- p.Cys576Arg Single submitter ⚠
- p.Cys909Gly Single submitter Inborn genetic diseases ⚠
- p.Gln198His Single submitter Inborn genetic diseases ⚠
- p.Gln284His Single submitter ⚠
- p.Gln322Arg Single submitter Inborn genetic diseases ⚠
- p.Gln377Arg Single submitter ⚠
- p.Glu180Lys Single submitter ⚠
- p.Glu221Lys Single submitter ⚠
- p.Glu228_Ala229insProGlu Single submitter
- p.Glu228_Ala229insValGluProGluGluProGlu Single submitter
- p.Glu265Lys Single submitter ⚠
- p.Glu274Asp Single submitter Inborn genetic diseases ⚠
- p.Glu287Asp Single submitter ⚠
- p.Glu287Lys Single submitter Inborn genetic diseases ⚠
- p.Glu288Lys Single submitter ⚠
- p.Glu342Asp Single submitter ⚠
- p.Glu352Asp Single submitter ⚠
- p.Glu418Lys Single submitter ⚠
- p.Glu476Lys Single submitter ⚠
- p.Glu503Gln Single submitter ⚠
- p.Glu609Asp Single submitter ⚠
- p.Glu614Asp Single submitter ⚠
- p.Glu665Gln Single submitter Inborn genetic diseases ⚠
- p.Glu740Ala Single submitter ⚠
- p.Glu808Lys Single submitter CODAS syndrome ⚠
- p.Glu83_Asp84delinsAspHis Single submitter
- p.Glu87Gln Single submitter ⚠
- p.Glu915Gln Single submitter ⚠
- p.Glu91Lys Single submitter ⚠
- p.Glu92_Gly98del Single submitter
- p.Glu929Asp Single submitter ⚠
- p.Glu937Gln Single submitter ⚠
- p.Glu941Gly Single submitter ⚠
- p.Glu950Lys Single submitter ⚠
- p.Glu953Gly Single submitter Inborn genetic diseases ⚠
- p.Gly165Ser Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly242Val Single submitter ⚠
- p.Gly29Arg Single submitter ⚠
- p.Gly29Glu Single submitter ⚠
- p.Gly408Ser Single submitter ⚠
- p.Gly446_Leu447insLysLeuGly Single submitter
- p.Gly567Asp Single submitter ⚠
- p.Gly56Asp Single submitter Inborn genetic diseases ⚠
- p.Gly598Asp Single submitter ⚠
- p.Gly683Ser Single submitter ⚠
- p.Gly708Ser Single submitter ⚠
- p.Gly730Asp Single submitter Inborn genetic diseases ⚠
- p.Gly730Ser Single submitter ⚠
- p.Gly775Ser Single submitter ⚠
- p.Gly77Val Single submitter Inborn genetic diseases ⚠
- p.Gly807Arg Single submitter Inborn genetic diseases ⚠
- p.Gly81Ala Single submitter Inborn genetic diseases ⚠
- p.Gly81Arg Single submitter ⚠
- p.Gly853Ser Single submitter ⚠
- p.Gly881Ala Single submitter ⚠
- p.Gly88Asp Single submitter ⚠
- p.Gly906Glu Single submitter ⚠
- p.Gly906Trp Single submitter CODAS syndrome ⚠
- p.His195Arg Single submitter ⚠
- p.His195Gln Single submitter Inborn genetic diseases ⚠
- p.His254Gln Single submitter ⚠
- p.His344Arg Single submitter ⚠
- p.His344Gln Single submitter ⚠
- p.His451Tyr Single submitter Inborn genetic diseases ⚠
- p.His622Tyr Single submitter ⚠
- p.His828Gln Single submitter ⚠
- p.Ile141Val Single submitter ⚠
- p.Ile216Leu Single submitter ⚠
- p.Ile296Met Single submitter
- p.Ile304Val Single submitter Inborn genetic diseases ⚠
- p.Ile355Thr Single submitter ⚠
- p.Ile501Val Single submitter ⚠
- p.Ile505Thr Single submitter ⚠
- p.Ile505Val Single submitter ⚠
- p.Ile518Met Single submitter ⚠
- p.Ile574Met Single submitter ⚠
- p.Ile587Thr Single submitter ⚠
- p.Ile589Phe Single submitter Inborn genetic diseases ⚠
- p.Ile656Thr Single submitter ⚠
- p.Ile816Val Single submitter Inborn genetic diseases ⚠
- p.Ile910Val Single submitter ⚠
- p.Ile927del Single submitter
- p.Ile945Met Single submitter ⚠
- p.Leu19Pro Single submitter ⚠
- p.Leu292Pro Single submitter ⚠
- p.Leu306Phe Single submitter Inborn genetic diseases ⚠
- p.Leu309Phe Single submitter Inborn genetic diseases ⚠
- p.Leu315Pro Single submitter Inborn genetic diseases ⚠
- p.Leu363fs Single submitter LONP1-related disorder
- p.Leu375Met Single submitter ⚠
- p.Leu478Pro Single submitter ⚠
- p.Leu478Val Single submitter Inborn genetic diseases ⚠
- p.Leu502Val Single submitter Inborn genetic diseases ⚠
- p.Leu510Phe Single submitter ⚠
- p.Leu510Val Single submitter ⚠
- p.Leu608Pro Single submitter ⚠
- p.Leu649Val Single submitter Inborn genetic diseases ⚠
- p.Leu864fs Single submitter
- p.Leu867Val Single submitter Inborn genetic diseases ⚠
- p.Leu885Val Single submitter Inborn genetic diseases ⚠
- p.Lys234Asn Single submitter Inborn genetic diseases ⚠
- p.Lys361Glu Single submitter ⚠
- p.Lys368Arg Single submitter Inborn genetic diseases ⚠
- p.Lys386Glu Single submitter Inborn genetic diseases ⚠
- p.Lys386Met Single submitter Inborn genetic diseases ⚠
- p.Lys579Asn Single submitter ⚠
- p.Lys579Thr Single submitter ⚠
- p.Lys632Glu Single submitter ⚠
- p.Lys690Met Single submitter ⚠
- p.Lys714Gln Single submitter ⚠
- p.Lys793Arg Single submitter ⚠
- p.Lys793Met Single submitter ⚠
- p.Lys811del Single submitter
- p.Lys918del Single submitter
- p.Lys918Thr Single submitter ⚠
- p.Met334Val Single submitter ⚠
- p.Met435Thr Single submitter ⚠
- p.Met435Val Single submitter ⚠
- p.Met655Thr Single submitter Inborn genetic diseases ⚠
- p.Met756Leu Single submitter Inborn genetic diseases ⚠
- p.Met756Thr Single submitter ⚠
- p.Met756Val Single submitter ⚠
- p.Met766Leu Single submitter Inborn genetic diseases
- p.Met869Val Single submitter Inborn genetic diseases ⚠
- p.Phe504Leu Single submitter Inborn genetic diseases ⚠
- p.Phe547Leu Single submitter ⚠
- p.Phe68Cys Single submitter ⚠
- p.Phe79Leu Single submitter ⚠
- p.Pro133Leu Single submitter ⚠
- p.Pro162Arg Single submitter Inborn genetic diseases ⚠
- p.Pro22Arg Single submitter Inborn genetic diseases ⚠
- p.Pro235Ser Single submitter ⚠
- p.Pro262Ser Single submitter ⚠
- p.Pro264Ser Single submitter ⚠
- p.Pro308Ser Single submitter Inborn genetic diseases ⚠
- p.Pro32Leu Single submitter Inborn genetic diseases ⚠