DNM1L — 817 ClinVar variants
All ClinVar germline DNM1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 280 flagged for review →
25 Pathogenic · 7 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 21 Conflicting · 63 Benign · 11 Benign/Likely benign · 348 Likely benign · 310 Uncertain significance
Full DNM1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 280
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.
-
DNM1L p.Lys75Glu
Pathogenic
Single submitter
encephalopathy due to mitochondrial and peroxisomal fission defect
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DNM1L p.Ile612Phe
Conflicting
Single submitter
Inborn genetic diseases
- DNM1L p.Pro547Leu Conflicting Single submitter
- DNM1L p.Pro547Ser Conflicting Single submitter
-
DNM1L p.Ser36Gly
Conflicting
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
-
DNM1L p.Thr115Arg
Conflicting
Single submitter
Inborn genetic diseases
-
DNM1L p.Val465Ile
Conflicting
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Predicted LoF vs a conflicting call 4
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
- DNM1L p.Arg117fs Conflicting Single submitter
-
DNM1L p.Asn9_Lys10delinsHisTer
Conflicting
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- DNM1L p.Asp204fs Conflicting Single submitter
-
DNM1L p.Lys10Ter
Conflicting
Single submitter
obesity disorder
Predictors lean, ClinVar uncertain 189
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 189
-
DNM1L p.Ala222Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Ala550Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Ala551Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Ala615Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Arg172Gln Uncertain significance Multiple submitters
- DNM1L p.Arg419Trp Uncertain significance Multiple submitters
- DNM1L p.Arg423His Uncertain significance Multiple submitters
-
DNM1L p.Arg590Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Arg639Trp
Uncertain significance
Multiple submitters
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
-
DNM1L p.Asn254Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Asn9His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Asp251Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Asp382Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Asp664Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Gln515Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Glu648Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Glu712Ala Uncertain significance Multiple submitters
- DNM1L p.Glu73Gly Uncertain significance Multiple submitters
- DNM1L p.Gly91Ser Uncertain significance Multiple submitters
-
DNM1L p.Ile242Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Ile512Thr Uncertain significance Multiple submitters
-
DNM1L p.Ile612Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Ile612Thr Uncertain significance Multiple submitters
-
DNM1L p.Leu4Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Met613Thr Uncertain significance Multiple submitters
-
DNM1L p.Met716Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Pro547Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Pro549Ser Uncertain significance Multiple submitters
-
DNM1L p.Pro584Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Pro609Ser Uncertain significance Multiple submitters
- DNM1L p.Pro617Ser Uncertain significance Multiple submitters
-
DNM1L p.Ser529Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Thr389Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Val381Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Val670Leu Uncertain significance Multiple submitters
- DNM1L p.Ala183Asp Uncertain significance Single submitter
- DNM1L p.Ala186Asp Uncertain significance Single submitter
- DNM1L p.Ala212Gly Uncertain significance Single submitter
- DNM1L p.Ala521Thr Uncertain significance Single submitter
- DNM1L p.Ala527Asp Uncertain significance Single submitter
- DNM1L p.Ala527Thr Uncertain significance Single submitter
- DNM1L p.Ala541Val Uncertain significance Single submitter
- DNM1L p.Ala550Val Uncertain significance Single submitter
- DNM1L p.Ala551Val Uncertain significance Single submitter
- DNM1L p.Ala571Val Uncertain significance Single submitter
- DNM1L p.Ala615Asp Uncertain significance Single submitter
- DNM1L p.Arg201Thr Uncertain significance Single submitter
- DNM1L p.Arg263Pro Uncertain significance Single submitter
- DNM1L p.Arg263Ser Uncertain significance Single submitter
- DNM1L p.Arg291Gly Uncertain significance Single submitter
- DNM1L p.Arg376Gln Uncertain significance Single submitter
- DNM1L p.Arg397Thr Uncertain significance Single submitter
- DNM1L p.Arg423Cys Uncertain significance Single submitter
- DNM1L p.Arg430Cys Uncertain significance Single submitter
-
DNM1L p.Arg430His
Uncertain significance
Single submitter
optic atrophy 5
- DNM1L p.Arg441Gly Uncertain significance Single submitter
- DNM1L p.Arg473His Uncertain significance Single submitter
- DNM1L p.Arg530Gln Uncertain significance Single submitter
- DNM1L p.Arg53Ile Uncertain significance Single submitter
-
DNM1L p.Arg649Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DNM1L p.Arg659Ser Uncertain significance Single submitter
- DNM1L p.Arg710Ser Uncertain significance Single submitter
- DNM1L p.Arg731Trp Uncertain significance Single submitter
- DNM1L p.Arg76Gln Uncertain significance Single submitter
- DNM1L p.Asn113Ser Uncertain significance Single submitter
- DNM1L p.Asn121Ser Uncertain significance Single submitter
- DNM1L p.Asn16Asp Uncertain significance Single submitter
- DNM1L p.Asn246Lys Uncertain significance Single submitter
- DNM1L p.Asn278Ser Uncertain significance Single submitter
- DNM1L p.Asn398Ser Uncertain significance Single submitter
- DNM1L p.Asn448His Uncertain significance Single submitter
- DNM1L p.Asn518Ser Uncertain significance Single submitter
- DNM1L p.Asp13Asn Uncertain significance Single submitter
- DNM1L p.Asp157Glu Uncertain significance Single submitter
- DNM1L p.Asp161Glu Uncertain significance Single submitter
- DNM1L p.Asp500Glu Uncertain significance Single submitter
- DNM1L p.Asp531Asn Uncertain significance Single submitter
-
DNM1L p.Asp579Gly
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- DNM1L p.Asp680Asn Uncertain significance Single submitter
- DNM1L p.Asp680Gly Uncertain significance Single submitter
-
DNM1L p.Asp698Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- DNM1L p.Cys345Phe Uncertain significance Single submitter
- DNM1L p.Gln27His Uncertain significance Single submitter
- DNM1L p.Gln34Arg Uncertain significance Single submitter
- DNM1L p.Gln683His Uncertain significance Single submitter
- DNM1L p.Gln721Arg Uncertain significance Single submitter
- DNM1L p.Gln725Glu Uncertain significance Single submitter
- DNM1L p.Glu414Gln Uncertain significance Single submitter
- DNM1L p.Glu514Ala Uncertain significance Single submitter
- DNM1L p.Glu583Asp Uncertain significance Single submitter
- DNM1L p.Glu82Gly Uncertain significance Single submitter
- DNM1L p.Gly19Ser Uncertain significance Single submitter
- DNM1L p.Gly223Arg Uncertain significance Single submitter
- DNM1L p.Gly223Ser Uncertain significance Single submitter
-
DNM1L p.Gly350Arg
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- DNM1L p.Gly363Val Uncertain significance Single submitter
- DNM1L p.Gly375Ala Uncertain significance Single submitter
- DNM1L p.Gly37Arg Uncertain significance Single submitter
- DNM1L p.Gly47Ala Uncertain significance Single submitter
- DNM1L p.Gly47Trp Uncertain significance Single submitter
- DNM1L p.Gly557Ser Uncertain significance Single submitter
-
DNM1L p.Gly576Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DNM1L p.Gly620Ala Uncertain significance Single submitter
- DNM1L p.Gly620Ser Uncertain significance Single submitter
- DNM1L p.His498Leu Uncertain significance Single submitter
- DNM1L p.His498Pro Uncertain significance Single submitter
- DNM1L p.His621Pro Uncertain significance Single submitter
- DNM1L p.His734Leu Uncertain significance Single submitter
- DNM1L p.Ile170Val Uncertain significance Single submitter
- DNM1L p.Ile181Thr Uncertain significance Single submitter
- DNM1L p.Ile297Phe Uncertain significance Single submitter
-
DNM1L p.Ile396Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNM1L p.Ile396Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNM1L p.Ile442Asn
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- DNM1L p.Ile512Val Uncertain significance Single submitter
- DNM1L p.Ile560Thr Uncertain significance Single submitter
- DNM1L p.Ile5Phe Uncertain significance Single submitter
- DNM1L p.Ile610Thr Uncertain significance Single submitter
- DNM1L p.Ile612Val Uncertain significance Single submitter
- DNM1L p.Ile647Thr Uncertain significance Single submitter
- DNM1L p.Ile662Thr Uncertain significance Single submitter
- DNM1L p.Ile8Leu Uncertain significance Single submitter
-
DNM1L p.Leu169Phe
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- DNM1L p.Leu239His Uncertain significance Single submitter
- DNM1L p.Leu336His Uncertain significance Single submitter
- DNM1L p.Leu424Pro Uncertain significance Single submitter
- DNM1L p.Leu460Pro Uncertain significance Single submitter
- DNM1L p.Leu491Gln Uncertain significance Single submitter
- DNM1L p.Leu4Val Uncertain significance Single submitter
- DNM1L p.Leu51Phe Uncertain significance Single submitter
- DNM1L p.Leu735Val Uncertain significance Single submitter
- DNM1L p.Lys10Arg Uncertain significance Single submitter
-
DNM1L p.Lys152Asn
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- DNM1L p.Lys160Glu Uncertain significance Single submitter
- DNM1L p.Lys198Thr Uncertain significance Single submitter
- DNM1L p.Lys255Arg Uncertain significance Single submitter
- DNM1L p.Lys339Arg Uncertain significance Single submitter
- DNM1L p.Lys422Arg Uncertain significance Single submitter
- DNM1L p.Lys535Asn Uncertain significance Single submitter
-
DNM1L p.Lys608Gln
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
-
DNM1L p.Lys679Gln
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
-
DNM1L p.Lys77Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DNM1L p.Met191Thr Uncertain significance Single submitter
-
DNM1L p.Met220Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DNM1L p.Met227Thr Uncertain significance Single submitter
- DNM1L p.Met231Thr Uncertain significance Single submitter
- DNM1L p.Met706Val Uncertain significance Single submitter
- DNM1L p.Pro26Thr Uncertain significance Single submitter
- DNM1L p.Pro274Ser Uncertain significance Single submitter
- DNM1L p.Pro402Leu Uncertain significance Single submitter
Predictors split 80
The independent predictors disagree with each other — read with care.
- DNM1L p.Ala550Asp Uncertain significance Multiple submitters
- DNM1L p.Arg172Trp Uncertain significance Multiple submitters
-
DNM1L p.Arg208His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Arg634Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Asp260Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Gly575Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Ile262Val Uncertain significance Multiple submitters
-
DNM1L p.Ile308Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DNM1L p.Ile64Leu Uncertain significance Multiple submitters
-
DNM1L p.Leu171Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Met191Val
Uncertain significance
Multiple submitters
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
-
DNM1L p.Met508Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Ser257Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Ser544Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Ser572Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DNM1L p.Thr102Met
Uncertain significance
Multiple submitters
optic atrophy 5
- DNM1L p.Ala3Thr Uncertain significance Single submitter
- DNM1L p.Ala719Ser Uncertain significance Single submitter
-
DNM1L p.Arg108Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DNM1L p.Arg172Leu Uncertain significance Single submitter
- DNM1L p.Arg208Cys Uncertain significance Single submitter
- DNM1L p.Arg263Cys Uncertain significance Single submitter
- DNM1L p.Arg263His Uncertain significance Single submitter
-
DNM1L p.Arg639Gln
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- DNM1L p.Arg709His Uncertain significance Single submitter
- DNM1L p.Arg731Gln Uncertain significance Single submitter
- DNM1L p.Arg76Trp Uncertain significance Single submitter
- DNM1L p.Asn138Ser Uncertain significance Single submitter
- DNM1L p.Asn141Ser Conflicting Single submitter
- DNM1L p.Asn280Ser Uncertain significance Single submitter
- DNM1L p.Asn518Tyr Uncertain significance Single submitter
- DNM1L p.Asn98Ile Uncertain significance Single submitter
- DNM1L p.Asp228Glu Uncertain significance Single submitter
-
DNM1L p.Asp698Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DNM1L p.Asp74His Uncertain significance Single submitter
- DNM1L p.Gln165Lys Uncertain significance Single submitter
- DNM1L p.Gln335Glu Uncertain significance Single submitter
- DNM1L p.Glu112Gln Uncertain significance Single submitter
- DNM1L p.Glu202Asp Uncertain significance Single submitter
- DNM1L p.Glu202Gln Uncertain significance Single submitter
- DNM1L p.Glu86Lys Uncertain significance Single submitter
-
DNM1L p.Gly573Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- DNM1L p.Gly576Trp Uncertain significance Single submitter
- DNM1L p.Gly688Cys Uncertain significance Single submitter
- DNM1L p.His131Tyr Uncertain significance Single submitter
- DNM1L p.His461Arg Uncertain significance Single submitter
- DNM1L p.Ile111Val Uncertain significance Single submitter
- DNM1L p.Ile162Val Uncertain significance Single submitter
- DNM1L p.Ile241Leu Uncertain significance Single submitter
- DNM1L p.Ile348Val Uncertain significance Single submitter
- DNM1L p.Ile355Met Uncertain significance Single submitter
- DNM1L p.Ile489Val Uncertain significance Single submitter
- DNM1L p.Ile647Val Uncertain significance Single submitter
- DNM1L p.Leu384Phe Uncertain significance Single submitter
- DNM1L p.Leu455Ser Uncertain significance Single submitter
- DNM1L p.Leu50Val Uncertain significance Single submitter
-
DNM1L p.Leu559Phe
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
-
DNM1L p.Leu696Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DNM1L p.Lys198Gln
Uncertain significance
Single submitter
encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- DNM1L p.Lys353Thr Uncertain significance Single submitter
- DNM1L p.Lys92Thr Uncertain significance Single submitter
- DNM1L p.Met231Ile Uncertain significance Single submitter
- DNM1L p.Met592Thr Uncertain significance Single submitter
- DNM1L p.Pro137Leu Uncertain significance Single submitter
- DNM1L p.Pro177Ser Uncertain significance Single submitter
- DNM1L p.Pro205Ala Uncertain significance Single submitter
- DNM1L p.Ser330Asn Uncertain significance Single submitter
- DNM1L p.Ser534Cys Uncertain significance Single submitter
- DNM1L p.Thr102Ala Uncertain significance Single submitter
- DNM1L p.Thr55Ala Uncertain significance Single submitter
- DNM1L p.Thr55Ile Uncertain significance Single submitter
- DNM1L p.Thr585Ile Uncertain significance Single submitter
- DNM1L p.Thr701Ile Uncertain significance Single submitter
- DNM1L p.Trp736Ser Uncertain significance Single submitter
-
DNM1L p.Val139Ile
Conflicting
Single submitter
Inborn genetic diseases
- DNM1L p.Val213Ile Uncertain significance Single submitter
- DNM1L p.Val577Leu Uncertain significance Single submitter
- DNM1L p.Val623Met Uncertain significance Single submitter
- DNM1L p.Val687Ile Uncertain significance Single submitter
- DNM1L p.Ile130Val Uncertain significance No assertion criteria
All DNM1L variants
Pathogenic 25
- p.Arg403Cys Multiple submitters Inborn genetic diseases
- p.Cys431Tyr Multiple submitters optic atrophy 5
- p.Gly362Ser Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Ala638fs Single submitter
- p.Arg108Ter Single submitter
- p.Arg167Ter Single submitter
- p.Arg456fs Single submitter
- p.Arg649Ter Single submitter
- p.Asn90Lys Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Cys345fs Single submitter
- p.Glu410fs Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Glu566Ter Single submitter
- p.Ile166fs Single submitter
- p.Lys256fs Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Lys608fs Single submitter
- p.Lys660fs Single submitter
- p.Lys75Glu Single submitter encephalopathy due to mitochondrial and peroxisomal fission defect ⚠
- p.Phe370Ser Single submitter
- p.Phe501fs Single submitter
- p.Ser39Gly Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Ser534fs Single submitter
- p.Ala192Glu No assertion criteria optic atrophy 5
- p.Ala395Asp No assertion criteria encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Glu2Ala No assertion criteria optic atrophy 5
- p.Trp88fs No assertion criteria encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Pathogenic/Likely pathogenic 7
- c.1674+1G>A Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Arg530Ter Multiple submitters
- p.Asp146Asn Multiple submitters DNM1L-related mitochondrial disorders
- p.Glu116fs Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Ser39Asn Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Thr59Asn Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Tyr691Cys Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Likely pathogenic 32
- c.1596+2T>A Multiple submitters optic atrophy 5
- p.Gly401Ser Multiple submitters DNM1L-related disorder
- p.Leu700del Multiple submitters DNM1L-related movement disorder
- c.1674+2T>A Single submitter
- c.297+1G>A Single submitter
- c.298-1G>C Single submitter
- c.457-2A>G Single submitter
- c.873-9_873-1del Single submitter
- p.Ala364Asp Single submitter
- p.Arg710Gly Single submitter mitochondrial disease
- p.Cys367Arg Single submitter
- p.Gln721Ter Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Glu379Lys Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Glu410Lys Single submitter Inborn genetic diseases
- p.Gly149Arg Single submitter
- p.Gly149Val Single submitter
- p.Gly350Ala Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Gly362Asp Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Gly363Asp Single submitter mitochondrial disease
- p.Gly363Ser Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Leu416Pro Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Leu650Arg Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Phe370Leu Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Pro85fs Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Ser39Arg Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Thr115_Glu116del Single submitter
- p.Thr143Arg Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Thr496Arg Single submitter
- p.Thr59Ile Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Tyr344His Single submitter
- p.Val245delinsGluTer Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Cys446Phe No assertion criteria encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
Conflicting classifications of pathogenicity 21
- c.1356+5C>T Single submitter
- c.1356+6G>A Single submitter
- c.457-10_457-7del Single submitter
- c.457-6G>A Single submitter Inborn genetic diseases
- p.Arg117fs Single submitter ⚠
- p.Asn141Ser Single submitter ⚠
- p.Asn9_Lys10delinsHisTer Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Asp204fs Single submitter ⚠
- p.Asp206= Single submitter
- p.Gln66= Single submitter
- p.His95= Single submitter
- p.Ile612Phe Single submitter Inborn genetic diseases ⚠
- p.Leu230dup Single submitter mitochondrial disease
- p.Leu717= Single submitter
- p.Lys10Ter Single submitter obesity disorder ⚠
- p.Pro547Leu Single submitter ⚠
- p.Pro547Ser Single submitter ⚠
- p.Ser36Gly Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Thr115Arg Single submitter Inborn genetic diseases ⚠
- p.Val139Ile Single submitter Inborn genetic diseases ⚠
- p.Val465Ile Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
Benign 63
- c.103-123T>A Multiple submitters
- c.103-144C>T Multiple submitters
- c.103-149A>G Multiple submitters
- c.1079+10A>G Multiple submitters
- c.1080-16C>T Multiple submitters
- c.1540-128C>T Multiple submitters
- c.1596+66C>T Multiple submitters
- c.1597-114C>T Multiple submitters
- c.1597-121T>C Multiple submitters
- c.1674+36T>A Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- c.250+106G>A Multiple submitters
- c.370-39T>C Multiple submitters
- c.619+94G>A Multiple submitters
- c.619+98T>C Multiple submitters
- c.620-96G>A Multiple submitters
- c.-32G>T Multiple submitters
- p.Glu490= Multiple submitters
- p.Gly84= Multiple submitters optic atrophy 5
- p.Leu656= Multiple submitters
- p.Ser40= Multiple submitters optic atrophy 5
- p.Thr306= Multiple submitters optic atrophy 5
- c.102+87_102+104del Single submitter
- c.103-124del Single submitter
- c.103-124dup Single submitter
- c.103-198A>G Single submitter
- c.103-267C>T Single submitter
- c.1079+239_1079+240insAATA Single submitter
- c.1201-11del Single submitter
- c.1201-97_1201-82del Single submitter
- c.1357-46AAAAAAC[3] Single submitter
- c.1446+233G>A Single submitter
- c.1539+79del Single submitter
- c.1540-247A>G Single submitter
- c.1596+16dup Single submitter
- c.1596+228_1596+231del Single submitter
- c.1596+248G>A Single submitter
- c.1596+9del Single submitter
- c.1597-248T>C Single submitter
- c.1597-9del Single submitter
- c.1597-9dup Single submitter
- c.1994+263G>T Single submitter
- c.2154+24dup Single submitter
- c.2154+273G>A Single submitter
- c.2155-125_2155-124del Single submitter
- c.2155-13del Single submitter
- c.2155-236_2155-233dup Single submitter
- c.2155-291T>C Single submitter
- c.250+155dup Single submitter
- c.250+262T>C Single submitter
- c.250+322T>C Single submitter
- c.370-163A>G Single submitter
- c.370-238A>G Single submitter
- c.619+211A>T Single submitter
- c.619+252G>A Single submitter
- c.620-251T>C Single submitter
- c.740+163G>A Single submitter
- c.740+206del Single submitter
- c.740+206dup Single submitter
- c.872+11del Single submitter
- c.872+11dup Single submitter
- c.872+187C>T Single submitter
- c.-14G>A Single submitter
- c.*1093T>C Single submitter
Benign/Likely benign 11
- c.1200+9G>A Multiple submitters
- c.1596+9dup Multiple submitters
- c.1708-4del Multiple submitters Inborn genetic diseases
- c.1885-15del Multiple submitters optic atrophy 5
- c.251-5dup Multiple submitters
- c.741-19G>A Multiple submitters optic atrophy 5
- c.*21G>C Multiple submitters optic atrophy 5
- c.*22A>T Multiple submitters optic atrophy 5
- c.*271C>G Multiple submitters
- p.Pro325= Multiple submitters
- p.Tyr322= Multiple submitters
Likely benign 348
Showing the top 300 by review status; the full set is in the sitemap.
- c.1079+155G>A Multiple submitters
- c.1080-59A>G Multiple submitters
- c.1356+11G>T Multiple submitters
- c.1540-137T>C Multiple submitters
- c.1596+10del Multiple submitters
- c.1596+9_1596+10del Multiple submitters
- c.1597-3_1597-2dup Multiple submitters
- c.1707+205T>C Multiple submitters
- c.1708-124A>C Multiple submitters
- c.1708-8T>G Multiple submitters
- c.250+7T>A Multiple submitters
- c.251-7T>C Multiple submitters
- c.619+13G>C Multiple submitters
- c.620-88G>A Multiple submitters
- c.741-208G>C Multiple submitters
- c.-25A>G Multiple submitters
- p.Ala622= Multiple submitters
- p.Ala719= Multiple submitters hereditary ataxia
- p.Arg423= Multiple submitters
- p.Asn624= Multiple submitters
- p.Cys361= Multiple submitters
- p.His677= Multiple submitters
- p.Ser119= Multiple submitters
- p.Ser321= Multiple submitters
- p.Ser36= Multiple submitters
- p.Ser694= Multiple submitters
- c.103-166C>G Single submitter
- c.103-18T>C Single submitter
- c.103-19G>A Single submitter
- c.103-215C>T Single submitter
- c.103-225C>T Single submitter
- c.1079+10A>C Single submitter
- c.1079+11A>G Single submitter
- c.1079+11A>T Single submitter
- c.1079+16T>C Single submitter
- c.1079+8A>C Single submitter
- c.1080-11T>C Single submitter
- c.1080-20T>A Single submitter
- c.1080-7C>T Single submitter
- c.1200+14G>A Single submitter
- c.1200+19T>C Single submitter
- c.1200+8T>C Single submitter
- c.1201-16A>T Single submitter
- c.1201-19C>G Single submitter
- c.1356+12A>C Single submitter
- c.1356+16_1356+17delinsTC Single submitter
- c.1356+16G>T Single submitter
- c.1356+17dup Single submitter
- c.1356+17T>G Single submitter
- c.1356+20C>T Single submitter
- c.1357-10C>T Single submitter
- c.1357-14T>C Single submitter
- c.1357-16C>T Single submitter
- c.1357-17dup Single submitter
- c.1357-7T>C Single submitter
- c.1357-8A>G Single submitter
- c.1446+10T>A Single submitter
- c.1446+11A>G Single submitter
- c.1446+13A>G Single submitter
- c.1446+15_1446+45del Single submitter
- c.1446+17T>C Single submitter
- c.1446+203C>G Single submitter
- c.1446+20A>G Single submitter
- c.1446+8_1446+9insTTA Single submitter
- c.1447-13_1447-10del Single submitter
- c.1447-13A>T Single submitter
- c.1447-13dup Single submitter
- c.1447-14T>A Single submitter
- c.1447-18A>C Single submitter
- c.1447-20C>G Single submitter
- c.1447-20C>T Single submitter
- c.1447-22G>A Single submitter
- c.1447-4C>G Single submitter
- c.1447-5T>C Single submitter
- c.1539+11T>A Single submitter
- c.1539+11T>C Single submitter
- c.1539+16_1539+17insTTTACCTTTATTATGAAAAATATTAAAA Single submitter
- c.1539+18A>G Single submitter
- c.1539+20del Single submitter
- c.1540-11G>A Single submitter
- c.1540-11G>C Single submitter
- c.1540-227A>G Single submitter
- c.1540-9_1540-8del Single submitter
- c.1540-9G>C Single submitter
- c.1596+10T>G Single submitter
- c.1596+11G>A Single submitter
- c.1596+16T>C Single submitter
- c.1596+219A>G Single submitter
- c.1596+228_1596+239del Single submitter
- c.1597-15A>G Single submitter
- c.1597-16G>A Single submitter
- c.1597-19del Single submitter
- c.1597-26_1597-9del Single submitter
- c.1674+13T>A Single submitter
- c.1674+14C>A Single submitter
- c.1674+15T>C Single submitter
- c.1675-14A>G Single submitter
- c.1707+12G>C Single submitter
- c.1707+14T>C Single submitter
- c.1707+17A>G Single submitter
- c.1707+18G>A Single submitter
- c.1707+18G>C Single submitter
- c.1707+7C>A Single submitter
- c.1707+8T>A Single submitter
- c.1707+9_1707+10del Single submitter
- c.1708-12A>G Single submitter
- c.1708-13C>T Single submitter
- c.1708-15A>C Single submitter
- c.1708-19T>C Single submitter
- c.1708-5T>C Single submitter
- c.1708-8T>A Single submitter
- c.1884+19G>T Single submitter
- c.1884+8A>C Single submitter
- c.1885-15C>G Single submitter
- c.1885-15C>T Single submitter
- c.1885-16C>T Single submitter
- c.1885-18C>T Single submitter
- c.1885-19C>A Single submitter
- c.1885-19C>T Single submitter
- c.1885-20T>C Single submitter
- c.1885-7T>G Single submitter
- c.1885-8C>A Single submitter
- c.1885-8C>T Single submitter
- c.1885-9C>A Single submitter
- c.1994+11_1994+14del Single submitter
- c.1994+11C>G Single submitter
- c.1994+16T>C Single submitter
- c.1994+176C>T Single submitter
- c.1994+18T>A Single submitter
- c.1994+9T>G Single submitter
- c.1995-133G>A Single submitter
- c.1995-14G>A Single submitter
- c.1995-16T>C Single submitter
- c.1995-20A>G Single submitter
- c.1995-319A>T Single submitter
- c.1995-9_1995-8del Single submitter
- c.2154+11_2154+25del Single submitter
- c.2154+11C>T Single submitter
- c.2154+186C>T Single submitter
- c.2154+20T>G Single submitter
- c.2154+37TAGA[3] Single submitter
- c.2154+41_2154+44del Single submitter
- c.2154+8G>A Single submitter
- c.2155-10T>C Single submitter
- c.2155-11C>T Single submitter
- c.2155-13T>C Single submitter
- c.2155-18T>G Single submitter
- c.2155-216G>A Single submitter
- c.2155-4G>A Single submitter
- c.250+10A>G Single submitter
- c.250+11G>A Single submitter
- c.250+16G>A Single submitter
- c.250+191G>T Single submitter
- c.250+9C>T Single submitter
- c.251-10T>C Single submitter
- c.251-1194G>A Single submitter
- c.251-15T>C Single submitter
- c.251-1796A>G Single submitter
- c.251-17G>A Single submitter
- c.251-9T>C Single submitter
- c.297+10C>T Single submitter
- c.297+14C>G Single submitter
- c.297+17A>G Single submitter
- c.298-224T>C Single submitter
- c.369+14T>C Single submitter
- c.369+18G>A Single submitter
- c.369+7A>G Single submitter
- c.370-15A>G Single submitter
- c.370-17T>C Single submitter
- c.370-7T>C Single submitter
- c.370-8A>G Single submitter
- c.456+12A>G Single submitter
- c.456+14A>G Single submitter
- c.456+8A>T Single submitter
- c.456+9_456+10insTATT Single submitter
- c.457-228C>T Single submitter
- c.457-289A>C Single submitter
- c.457-8del Single submitter
- c.619+18T>C Single submitter
- c.619+19_619+23del Single submitter
- c.620-10C>A Single submitter
- c.620-12T>C Single submitter
- c.620-179A>C Single submitter
- c.620-17C>G Single submitter
- c.620-4C>T Single submitter
- c.620-9A>G Single submitter
- c.740+15T>A Single submitter
- c.740+328T>C Single submitter
- c.740+3T>C Single submitter
- c.740+7A>T Single submitter
- c.740+8G>A Single submitter
- c.741-10T>G Single submitter
- c.741-18T>C Single submitter
- c.741-20C>T Single submitter
- c.741-5C>G Single submitter
- c.741-9C>T Single submitter
- c.872+11T>A Single submitter
- c.872+127G>T Single submitter
- c.872+128T>A Single submitter
- c.873-10C>T Single submitter
- c.873-12A>C Single submitter
- c.873-12A>G Single submitter
- c.873-9C>G Single submitter
- c.-18C>T Single submitter
- c.-48A>G Single submitter
- c.*1120A>G Single submitter
- c.*1156G>C Single submitter
- c.*1213G>T Single submitter
- c.*1242G>A Single submitter
- c.*1338C>T Single submitter
- c.*3_*7delinsGT Single submitter
- c.*600C>T Single submitter
- c.*744A>T Single submitter
- p.Ala186= Single submitter
- p.Ala222= Single submitter
- p.Ala286= Single submitter
- p.Ala3= Single submitter
- p.Ala341= Single submitter
- p.Ala502= Single submitter
- p.Ala504= Single submitter
- p.Ala521= Single submitter
- p.Ala550= Single submitter
- p.Ala571= Single submitter
- p.Ala713= Single submitter
- p.Arg172= Single submitter
- p.Arg287= Single submitter
- p.Arg441= Single submitter
- p.Arg519= Single submitter
- p.Arg634= Single submitter
- p.Asn138= Single submitter
- p.Asn16= Single submitter
- p.Asn278= Single submitter
- p.Asn309= Single submitter
- p.Asn510= Single submitter
- p.Asn661= Single submitter
- p.Asp299= Single submitter
- p.Asp328= Single submitter
- p.Asp462= Single submitter
- p.Asp503= Single submitter
- p.Asp556= Single submitter
- p.Asp579= Single submitter
- p.Asp698= Single submitter
- p.Asp705= Single submitter
- p.Cys470= Single submitter
- p.Gln109= Single submitter
- p.Gln158= Single submitter
- p.Gln314= Single submitter
- p.Gln316= Single submitter
- p.Gln335= Single submitter
- p.Gln440= Single submitter
- p.Gln515= Single submitter
- p.Gln725= Single submitter
- p.Glu410= Single submitter
- p.Glu514= Single submitter
- p.Glu599= Single submitter
- p.Glu704= Single submitter
- p.Gly19= Single submitter
- p.Gly362= Single submitter
- p.Gly47= Single submitter
- p.Gly56= Single submitter
- p.Gly574= Single submitter
- p.Gly576= Single submitter
- p.Gly580= Single submitter
- p.Gly591= Single submitter
- p.Gly620= Single submitter
- p.His296= Single submitter
- p.His461= Single submitter
- p.His484= Single submitter
- p.His672= Single submitter
- p.His69= Single submitter
- p.Ile162= Single submitter
- p.Ile22= Single submitter
- p.Ile241= Single submitter
- p.Ile355= Single submitter
- p.Ile57= Single submitter
- p.Ile612= Single submitter
- p.Ile647= Single submitter
- p.Ile657= Single submitter
- p.Ile727= Single submitter
- p.Leu142= Single submitter
- p.Leu182= Single submitter
- p.Leu211= Single submitter
- p.Leu217= Single submitter
- p.Leu25= Single submitter
- p.Leu250= Single submitter
- p.Leu289= Single submitter
- p.Leu293= Single submitter
- p.Leu319= Single submitter
- p.Leu334= Single submitter
- p.Leu424= Single submitter
- p.Leu434= Single submitter
- p.Leu45= Single submitter
- p.Leu491= Single submitter
- p.Leu507= Single submitter
- p.Leu524= Single submitter
- p.Leu524Ser Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- p.Leu636= Single submitter
- p.Leu650= Single submitter
- p.Leu67= Single submitter
- p.Leu682= Single submitter
Uncertain significance 310
Showing the top 300 by review status; the full set is in the sitemap.
- c.1884+6C>T Multiple submitters
- p.Ala222Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ala550Asp Multiple submitters ⚠
- p.Ala550Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala551Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala615Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg172Gln Multiple submitters ⚠
- p.Arg172Trp Multiple submitters ⚠
- p.Arg208His Multiple submitters Inborn genetic diseases ⚠
- p.Arg419Trp Multiple submitters ⚠
- p.Arg423His Multiple submitters ⚠
- p.Arg590Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg634Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg639Trp Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Asn122del Multiple submitters
- p.Asn254Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn9His Multiple submitters Inborn genetic diseases ⚠
- p.Asp251Glu Multiple submitters Inborn genetic diseases ⚠
- p.Asp260Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp382Ala Multiple submitters Inborn genetic diseases ⚠
- p.Asp664Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln515Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu648Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu712Ala Multiple submitters ⚠
- p.Glu73Gly Multiple submitters ⚠
- p.Gly575Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly91Ser Multiple submitters ⚠
- p.Ile242Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile262Val Multiple submitters ⚠
- p.Ile308Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile512Thr Multiple submitters ⚠
- p.Ile612Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile612Thr Multiple submitters ⚠
- p.Ile64Leu Multiple submitters ⚠
- p.Leu171Ile Multiple submitters Inborn genetic diseases ⚠
- p.Leu4Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met191Val Multiple submitters encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Met508Ile Multiple submitters Inborn genetic diseases ⚠
- p.Met613Thr Multiple submitters ⚠
- p.Met716Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro547Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro549Ser Multiple submitters ⚠
- p.Pro584Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro609Ser Multiple submitters ⚠
- p.Pro617Ser Multiple submitters ⚠
- p.Ser257Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser529Pro Multiple submitters Inborn genetic diseases ⚠
- p.Ser544Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser552_Ala553del Multiple submitters
- p.Ser572Cys Multiple submitters Inborn genetic diseases ⚠
- p.Thr102Met Multiple submitters optic atrophy 5 ⚠
- p.Thr389Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val381Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val670Leu Multiple submitters ⚠
- c.1357-3T>C Single submitter
- c.1539+6T>C Single submitter
- c.1539+6T>G Single submitter
- c.1596+2dup Single submitter
- c.1597-14T>G Single submitter
- c.1597-3T>C Single submitter
- c.1674+6T>C Single submitter
- c.1675-10C>A Single submitter
- c.1675-16A>T Single submitter
- c.1675-4A>G Single submitter
- c.1707+3G>A Single submitter
- c.1707+3G>T Single submitter
- c.1707+4_1707+12del Single submitter
- c.1884+6C>A Single submitter
- c.1994+3T>G Single submitter Inborn genetic diseases
- c.1994+6T>C Single submitter
- c.1995-5_1995-4insA Single submitter
- c.2154+5T>C Single submitter
- c.2155-20T>A Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
- c.250+3A>G Single submitter
- c.250+5A>G Single submitter
- c.251-3C>T Single submitter
- c.298-3T>A Single submitter
- c.619+7A>T Single submitter
- c.620-3C>G Single submitter
- c.740+6C>T Single submitter
- c.*1315dup Single submitter
- p.Ala183Asp Single submitter ⚠
- p.Ala186Asp Single submitter ⚠
- p.Ala212Gly Single submitter ⚠
- p.Ala3Thr Single submitter ⚠
- p.Ala521Thr Single submitter ⚠
- p.Ala527Asp Single submitter ⚠
- p.Ala527Thr Single submitter ⚠
- p.Ala541Val Single submitter ⚠
- p.Ala550Val Single submitter ⚠
- p.Ala551Val Single submitter ⚠
- p.Ala571Val Single submitter ⚠
- p.Ala615Asp Single submitter ⚠
- p.Ala719Ser Single submitter ⚠
- p.Arg108Gln Single submitter Inborn genetic diseases ⚠
- p.Arg172Leu Single submitter ⚠
- p.Arg201Thr Single submitter ⚠
- p.Arg208Cys Single submitter ⚠
- p.Arg263Cys Single submitter ⚠
- p.Arg263His Single submitter ⚠
- p.Arg263Pro Single submitter ⚠
- p.Arg263Ser Single submitter ⚠
- p.Arg291Gly Single submitter ⚠
- p.Arg376Gln Single submitter ⚠
- p.Arg397Thr Single submitter ⚠
- p.Arg423Cys Single submitter ⚠
- p.Arg430Cys Single submitter ⚠
- p.Arg430His Single submitter optic atrophy 5 ⚠
- p.Arg441Gly Single submitter ⚠
- p.Arg456Ter Single submitter
- p.Arg473His Single submitter ⚠
- p.Arg530Gln Single submitter ⚠
- p.Arg53Ile Single submitter ⚠
- p.Arg639Gln Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Arg649Gln Single submitter Inborn genetic diseases ⚠
- p.Arg659Ser Single submitter ⚠
- p.Arg709His Single submitter ⚠
- p.Arg710Ser Single submitter ⚠
- p.Arg731Gln Single submitter ⚠
- p.Arg731Trp Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn121Ser Single submitter ⚠
- p.Asn138Ser Single submitter ⚠
- p.Asn16Asp Single submitter ⚠
- p.Asn246Lys Single submitter ⚠
- p.Asn254del Single submitter
- p.Asn278Ser Single submitter ⚠
- p.Asn280Ser Single submitter ⚠
- p.Asn398Ser Single submitter ⚠
- p.Asn448His Single submitter ⚠
- p.Asn518Ser Single submitter ⚠
- p.Asn518Tyr Single submitter ⚠
- p.Asn98Ile Single submitter ⚠
- p.Asp13Asn Single submitter ⚠
- p.Asp157Glu Single submitter ⚠
- p.Asp161Glu Single submitter ⚠
- p.Asp228Glu Single submitter ⚠
- p.Asp500Glu Single submitter ⚠
- p.Asp531Asn Single submitter ⚠
- p.Asp579Gly Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Asp680Asn Single submitter ⚠
- p.Asp680Gly Single submitter ⚠
- p.Asp698Glu Single submitter Inborn genetic diseases ⚠
- p.Asp698Val Single submitter Inborn genetic diseases ⚠
- p.Asp74His Single submitter ⚠
- p.Cys345Phe Single submitter ⚠
- p.Cys470_Leu471delinsPhe Single submitter
- p.Gln165Lys Single submitter ⚠
- p.Gln27His Single submitter ⚠
- p.Gln335Glu Single submitter ⚠
- p.Gln34Arg Single submitter ⚠
- p.Gln683His Single submitter ⚠
- p.Gln721Arg Single submitter ⚠
- p.Gln725Glu Single submitter ⚠
- p.Glu112Gln Single submitter ⚠
- p.Glu202Asp Single submitter ⚠
- p.Glu202Gln Single submitter ⚠
- p.Glu414Gln Single submitter ⚠
- p.Glu514Ala Single submitter ⚠
- p.Glu583Asp Single submitter ⚠
- p.Glu82Gly Single submitter ⚠
- p.Glu86Lys Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly223Arg Single submitter ⚠
- p.Gly223Ser Single submitter ⚠
- p.Gly243= Single submitter
- p.Gly350Arg Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Gly363Val Single submitter ⚠
- p.Gly375Ala Single submitter ⚠
- p.Gly37Arg Single submitter ⚠
- p.Gly47Ala Single submitter ⚠
- p.Gly47Trp Single submitter ⚠
- p.Gly557Ser Single submitter ⚠
- p.Gly573Glu Single submitter Inborn genetic diseases ⚠
- p.Gly575_Gly576insPheSerGlyAlaSerGly Single submitter
- p.Gly576Trp Single submitter ⚠
- p.Gly576Val Single submitter Inborn genetic diseases ⚠
- p.Gly578_Asp579insGlyGlyGlyValGly Single submitter
- p.Gly587Val Single submitter
- p.Gly620Ala Single submitter ⚠
- p.Gly620Ser Single submitter ⚠
- p.Gly688Cys Single submitter ⚠
- p.His131Tyr Single submitter ⚠
- p.His461Arg Single submitter ⚠
- p.His498Leu Single submitter ⚠
- p.His498Pro Single submitter ⚠
- p.His621Pro Single submitter ⚠
- p.His734Leu Single submitter ⚠
- p.Ile111Val Single submitter ⚠
- p.Ile162Val Single submitter ⚠
- p.Ile170Val Single submitter ⚠
- p.Ile181Thr Single submitter ⚠
- p.Ile241Leu Single submitter ⚠
- p.Ile297Phe Single submitter ⚠
- p.Ile348Val Single submitter ⚠
- p.Ile355Met Single submitter ⚠
- p.Ile396Met Single submitter Inborn genetic diseases ⚠
- p.Ile396Thr Single submitter Inborn genetic diseases ⚠
- p.Ile442Asn Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Ile489Val Single submitter ⚠
- p.Ile512Val Single submitter ⚠
- p.Ile560Thr Single submitter ⚠
- p.Ile5Phe Single submitter ⚠
- p.Ile610Thr Single submitter ⚠
- p.Ile612Val Single submitter ⚠
- p.Ile64_Gln66delinsLys Single submitter
- p.Ile647Thr Single submitter ⚠
- p.Ile647Val Single submitter ⚠
- p.Ile662Thr Single submitter ⚠
- p.Ile8Leu Single submitter ⚠
- p.Leu169Phe Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Leu239His Single submitter ⚠
- p.Leu336His Single submitter ⚠
- p.Leu384Phe Single submitter ⚠
- p.Leu424Pro Single submitter ⚠
- p.Leu455Ser Single submitter ⚠
- p.Leu460Pro Single submitter ⚠
- p.Leu491Gln Single submitter ⚠
- p.Leu4Val Single submitter ⚠
- p.Leu50Val Single submitter ⚠
- p.Leu51Phe Single submitter ⚠
- p.Leu559Phe Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Leu696Phe Single submitter Inborn genetic diseases ⚠
- p.Leu735fs Single submitter
- p.Leu735Val Single submitter ⚠
- p.Lys10Arg Single submitter ⚠
- p.Lys152Asn Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Lys160Glu Single submitter ⚠
- p.Lys198Gln Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Lys198Thr Single submitter ⚠
- p.Lys255Arg Single submitter ⚠
- p.Lys339Arg Single submitter ⚠
- p.Lys353Thr Single submitter ⚠
- p.Lys422Arg Single submitter ⚠
- p.Lys535Asn Single submitter ⚠
- p.Lys608Gln Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Lys679Gln Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Lys77Arg Single submitter Inborn genetic diseases ⚠
- p.Lys92Thr Single submitter ⚠
- p.Met191Thr Single submitter ⚠
- p.Met220Leu Single submitter Inborn genetic diseases ⚠
- p.Met227Thr Single submitter ⚠
- p.Met231Ile Single submitter ⚠
- p.Met231Thr Single submitter ⚠
- p.Met592Thr Single submitter ⚠
- p.Met706Val Single submitter ⚠
- p.Pro137Leu Single submitter ⚠
- p.Pro177Ser Single submitter ⚠
- p.Pro205Ala Single submitter ⚠
- p.Pro26Thr Single submitter ⚠
- p.Pro274Ser Single submitter ⚠
- p.Pro402Leu Single submitter ⚠
- p.Pro499Ala Single submitter ⚠
- p.Pro542Ser Single submitter ⚠
- p.Pro584Ser Single submitter ⚠
- p.Pro609Leu Single submitter ⚠
- p.Pro611Ala Single submitter ⚠
- p.Pro611Ser Single submitter ⚠
- p.Pro629Ala Single submitter ⚠
- p.Pro85Ala Single submitter hereditary spastic paraplegia 8
- p.Ser248Cys Single submitter ⚠
- p.Ser257Thr Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Ser330Asn Single submitter ⚠
- p.Ser358= Single submitter
- p.Ser358Leu Single submitter ⚠
- p.Ser39Cys Single submitter
- p.Ser428Arg Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Ser447Thr Single submitter ⚠
- p.Ser44Ile Single submitter optic atrophy 5 ⚠
- p.Ser529Leu Single submitter ⚠
- p.Ser534Cys Single submitter ⚠
- p.Ser563Gly Single submitter ⚠
- p.Ser607Pro Single submitter ⚠
- p.Ser616Arg Single submitter ⚠
- p.Ser637Pro Single submitter ⚠
- p.Ser665Arg Single submitter ⚠
- p.Thr102Ala Single submitter ⚠
- p.Thr479Ile Single submitter encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 ⚠
- p.Thr55Ala Single submitter ⚠
- p.Thr55Ile Single submitter ⚠
- p.Thr585Ala Single submitter ⚠
- p.Thr585Ile Single submitter ⚠
- p.Thr586Ala Single submitter ⚠
- p.Thr681Asn Single submitter ⚠
- p.Thr701Ile Single submitter ⚠
- p.Thr96Ser Single submitter Inborn genetic diseases ⚠
- p.Trp736Ser Single submitter ⚠
- p.Tyr266Cys Single submitter ⚠
- p.Tyr449Cys Single submitter Inborn genetic diseases ⚠
- p.Val153Met Single submitter ⚠
- p.Val213Ile Single submitter ⚠
- p.Val234Phe Single submitter ⚠
- p.Val30Leu Single submitter ⚠
- p.Val381Ile Single submitter ⚠
- p.Val41Ala Single submitter ⚠
- p.Val468Met Single submitter ⚠
- p.Val478Leu Single submitter ⚠
- p.Val528Ile Single submitter ⚠