CPT1C — 421 ClinVar variants
All ClinVar germline CPT1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 215 flagged for review →
8 Pathogenic · 9 Likely pathogenic · 11 Conflicting · 16 Benign · 6 Benign/Likely benign · 149 Likely benign · 222 Uncertain significance
Full CPT1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 215
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.
-
CPT1C p.Arg37Cys
Pathogenic
No assertion criteria
hereditary spastic paraplegia 73
Predictors agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CPT1C p.Arg300His
Conflicting
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg579Lys
Conflicting
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Asp200Asn
Conflicting
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Thr799Ile
Conflicting
Single submitter
hereditary spastic paraplegia 73
Predictors lean, ClinVar uncertain 103
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CPT1C p.Ala117Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Ala19Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Ala203Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Ala422Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Ala643Gly
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg102Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg325His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg598Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg652Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg771Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg789His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Asp49Gly
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Gln180Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Glu778Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
CPT1C p.Gly533Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.His5Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Leu327Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Met163Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Pro374Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Pro505Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Thr485Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Val104Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Val319Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
- CPT1C p.Ala142Val Uncertain significance Single submitter
-
CPT1C p.Ala152Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ala19Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ala357Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ala422Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ala437Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ala534Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ala633Pro Uncertain significance Single submitter
-
CPT1C p.Ala68Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg169Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg169His
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg271Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg300Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg315Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg444Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Arg444Pro Uncertain significance Single submitter
-
CPT1C p.Arg45His
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg45Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia
- CPT1C p.Arg557Gln Uncertain significance Single submitter
- CPT1C p.Arg592Cys Uncertain significance Single submitter
-
CPT1C p.Arg592His
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg598Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg770His
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg789Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg789Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Asn230Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Asn698Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Asp17Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Asp428Asn Uncertain significance Single submitter
-
CPT1C p.Asp49Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Asp518His Uncertain significance Single submitter
- CPT1C p.Asp564Gly Uncertain significance Single submitter
-
CPT1C p.Asp726Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Gln207Arg Uncertain significance Single submitter
-
CPT1C p.Glu197Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Gly103Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Gly103Val Uncertain significance Single submitter
-
CPT1C p.Gly141Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Gly18Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Gly462Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Gly597Ser Uncertain significance Single submitter
-
CPT1C p.Gly647Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Gly774Arg Uncertain significance Single submitter
- CPT1C p.Gly776Arg Uncertain significance Single submitter
-
CPT1C p.Gly9Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.His123Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.His375Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.His544Arg
Uncertain significance
Single submitter
CPT1C-related disorder
-
CPT1C p.His665Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ile310Leu Uncertain significance Single submitter
-
CPT1C p.Ile310Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ile569Leu Uncertain significance Single submitter
-
CPT1C p.Leu327Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Leu561Phe Uncertain significance Single submitter
- CPT1C p.Met299Thr Uncertain significance Single submitter
-
CPT1C p.Met691Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Pro293Leu Uncertain significance Single submitter
-
CPT1C p.Pro355Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Pro371Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ser131Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ser145Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ser16Leu Uncertain significance Single submitter
-
CPT1C p.Ser178Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ser229Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ser24Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ser549Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ser588Leu Uncertain significance Single submitter
- CPT1C p.Thr389Arg Uncertain significance Single submitter
-
CPT1C p.Thr683Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Thr740Ala Uncertain significance Single submitter
-
CPT1C p.Trp226Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Trp47Arg Uncertain significance Single submitter
- CPT1C p.Val124Met Uncertain significance Single submitter
- CPT1C p.Val154Asp Uncertain significance Single submitter
-
CPT1C p.Val468Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Val613Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Val660Leu Uncertain significance Single submitter
-
CPT1C p.Val688Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Val758Met
Uncertain significance
Single submitter
Spastic paraplegia
-
CPT1C p.Ala796Ser
Uncertain significance
No assertion criteria
CPT1C-related disorder
Predictors split 107
The independent predictors disagree with each other — read with care.
-
CPT1C p.Ala401Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Ala431Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Ala4Glu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg285His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg288Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg288His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg288Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg41Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Arg514Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
CPT1C p.Gln766His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Glu237Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Glu85Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Gly710Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Ile527Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Phe336Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Phe66Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Pro247Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Pro429Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Ser67Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
-
CPT1C p.Thr622Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 73
- CPT1C p.Ala206Val Uncertain significance Single submitter
-
CPT1C p.Ala381Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ala407Glu Uncertain significance Single submitter
-
CPT1C p.Ala407Val
Benign
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ala422Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ala431Thr Uncertain significance Single submitter
-
CPT1C p.Ala442Gly
Uncertain significance
Single submitter
Spastic paraplegia
-
CPT1C p.Ala570Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ala628Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ala712Gly
Likely benign
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ala754Thr Uncertain significance Single submitter
-
CPT1C p.Ala754Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg155Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg160Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg243Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Arg283Cys Uncertain significance Single submitter
- CPT1C p.Arg325Cys Uncertain significance Single submitter
-
CPT1C p.Arg338Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Arg338Trp Uncertain significance Single submitter
-
CPT1C p.Arg340Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg343Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg343Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg37His
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Arg444Leu Uncertain significance Single submitter
-
CPT1C p.Arg514Leu
Benign
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Arg514Trp Uncertain significance Single submitter
-
CPT1C p.Arg577Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg631Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Arg770Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Arg771Trp Uncertain significance Single submitter
-
CPT1C p.Asn230Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Asn698Asp
Conflicting
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Asp418Glu Uncertain significance Single submitter
- CPT1C p.Cys583Phe Uncertain significance Single submitter
-
CPT1C p.Gln331Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Gln625Arg Uncertain significance Single submitter
- CPT1C p.Glu308Lys Uncertain significance Single submitter
- CPT1C p.Glu427Lys Uncertain significance Single submitter
-
CPT1C p.Glu596Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Glu617Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Gly134Asp Uncertain significance Single submitter
- CPT1C p.Gly443Ser Uncertain significance Single submitter
-
CPT1C p.Gly53Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Gly765Ala Uncertain significance Single submitter
- CPT1C p.His284Tyr Uncertain significance Single submitter
- CPT1C p.His42Asp Uncertain significance Single submitter
- CPT1C p.His504Tyr Uncertain significance Single submitter
-
CPT1C p.His524Tyr
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.His745Tyr Uncertain significance Single submitter
- CPT1C p.Ile316Thr Uncertain significance Single submitter
-
CPT1C p.Ile722Asn
Likely benign
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Leu130Val
Likely benign
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Leu36Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Leu493Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Leu75Phe Uncertain significance Single submitter
- CPT1C p.Phe66Leu Uncertain significance Single submitter
-
CPT1C p.Pro175Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Pro687Ala
Conflicting
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Pro687Ser Uncertain significance Single submitter
-
CPT1C p.Pro92Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ser131Tyr
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ser330Gly Uncertain significance Single submitter
-
CPT1C p.Ser432Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ser44Pro Uncertain significance Single submitter
- CPT1C p.Ser526Cys Uncertain significance Single submitter
-
CPT1C p.Ser538Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Ser668Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Ser739Thr Uncertain significance Single submitter
-
CPT1C p.Thr202Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Thr314Met Uncertain significance Single submitter
-
CPT1C p.Thr389Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Thr508Ile
Conflicting
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Thr591Ala Uncertain significance Single submitter
-
CPT1C p.Thr601Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Thr601Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Thr672Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Thr742Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Tyr702Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Val154Leu Uncertain significance Single submitter
-
CPT1C p.Val183Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Val250Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
- CPT1C p.Val276Ile Uncertain significance Single submitter
- CPT1C p.Val27Met Uncertain significance Single submitter
- CPT1C p.Val458Ile Uncertain significance Single submitter
- CPT1C p.Val541Ala Uncertain significance Single submitter
-
CPT1C p.Val613Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 73
-
CPT1C p.Val632Met
Conflicting
Single submitter
hereditary spastic paraplegia 73
All CPT1C variants
Pathogenic 8
- p.Ala412fs Single submitter hereditary spastic paraplegia 73
- p.Arg340Ter Single submitter hereditary spastic paraplegia 73
- p.Arg557Ter Single submitter hereditary spastic paraplegia 73
- p.Arg579fs Single submitter hereditary spastic paraplegia 73
- p.Gln218Ter Single submitter hereditary spastic paraplegia 73
- p.Ile686fs Single submitter hereditary spastic paraplegia 73
- p.Tyr186Ter Single submitter hereditary spastic paraplegia 73
- p.Arg37Cys No assertion criteria hereditary spastic paraplegia 73 ⚠
Likely pathogenic 9
- c.1450-2A>C Single submitter hereditary spastic paraplegia 73
- c.2019+1G>C Single submitter hereditary spastic paraplegia 73
- c.694-2A>G Single submitter hereditary spastic paraplegia 73
- p.Arg245Ter Single submitter hereditary spastic paraplegia 73
- p.Arg349Ter Single submitter hereditary spastic paraplegia 73
- p.Gln361Ter Single submitter hereditary spastic paraplegia 73
- p.Gly552Val Single submitter
- p.Met1Arg Single submitter hereditary spastic paraplegia 73
- p.Gln400Ter No assertion criteria
Conflicting classifications of pathogenicity 11
- p.Ala431= Single submitter hereditary spastic paraplegia 73
- p.Arg285= Single submitter hereditary spastic paraplegia 73
- p.Arg300His Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg579Lys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Asn698Asp Single submitter hereditary spastic paraplegia 73 ⚠
- p.Asp200Asn Single submitter hereditary spastic paraplegia 73 ⚠
- p.Pro687Ala Single submitter hereditary spastic paraplegia 73 ⚠
- p.Thr508Ile Single submitter hereditary spastic paraplegia 73 ⚠
- p.Thr799Ile Single submitter hereditary spastic paraplegia 73 ⚠
- p.Tyr436= Single submitter hereditary spastic paraplegia 73
- p.Val632Met Single submitter hereditary spastic paraplegia 73 ⚠
Benign 16
- c.2133+15dup Multiple submitters hereditary spastic paraplegia 73
- c.453+14A>G Multiple submitters hereditary spastic paraplegia 73
- p.Ala442= Multiple submitters hereditary spastic paraplegia 73
- p.Asp498= Multiple submitters hereditary spastic paraplegia 73
- p.Ser215= Multiple submitters hereditary spastic paraplegia 73
- p.Thr508= Multiple submitters hereditary spastic paraplegia 73
- c.141+10G>A Single submitter hereditary spastic paraplegia 73
- c.1450-8G>A Single submitter hereditary spastic paraplegia 73
- c.2133+11_2133+12insA Single submitter hereditary spastic paraplegia 73
- c.2133+12T>G Single submitter hereditary spastic paraplegia 73
- p.Ala407Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg514Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg631= Single submitter hereditary spastic paraplegia 73
- p.Asn461= Single submitter hereditary spastic paraplegia 73
- p.Gly339= Single submitter hereditary spastic paraplegia 73
- p.His332= Single submitter hereditary spastic paraplegia 73
Benign/Likely benign 6
- c.1731+7T>A Multiple submitters hereditary spastic paraplegia 73
- p.Ala639Thr Multiple submitters hereditary spastic paraplegia 73
- p.Cys583= Multiple submitters hereditary spastic paraplegia 73
- p.Met798Val Multiple submitters hereditary spastic paraplegia 73
- p.Ser467= Multiple submitters hereditary spastic paraplegia 73
- p.Tyr241His Multiple submitters hereditary spastic paraplegia 73
Likely benign 149
- c.1567-10C>T Multiple submitters hereditary spastic paraplegia 73
- c.2134-18C>T Multiple submitters hereditary spastic paraplegia 73
- c.454-11C>T Multiple submitters hereditary spastic paraplegia 73
- p.Arg325= Multiple submitters hereditary spastic paraplegia 73
- p.Gln180= Multiple submitters hereditary spastic paraplegia 73
- p.His375= Multiple submitters hereditary spastic paraplegia 73
- p.Leu531= Multiple submitters hereditary spastic paraplegia 73
- p.Leu693Met Multiple submitters hereditary spastic paraplegia 73
- p.Ser646= Multiple submitters hereditary spastic paraplegia 73
- c.1160+13G>C Single submitter hereditary spastic paraplegia 73
- c.1160+5GGGTCAG[2] Single submitter hereditary spastic paraplegia 73
- c.1161-12C>T Single submitter hereditary spastic paraplegia 73
- c.1343+15G>A Single submitter hereditary spastic paraplegia 73
- c.1344-9C>T Single submitter hereditary spastic paraplegia 73
- c.141+19C>T Single submitter hereditary spastic paraplegia 73
- c.142-15C>T Single submitter hereditary spastic paraplegia 73
- c.1449+7C>T Single submitter hereditary spastic paraplegia 73
- c.1566+8T>G Single submitter
- c.1567-13C>T Single submitter hereditary spastic paraplegia 73
- c.1731+10G>T Single submitter
- c.1731+16C>T Single submitter
- c.1732-14_1732-12del Single submitter hereditary spastic paraplegia 73
- c.1732-16C>T Single submitter hereditary spastic paraplegia 73
- c.1732-7C>T Single submitter hereditary spastic paraplegia 73
- c.1732-8del Single submitter hereditary spastic paraplegia 73
- c.1866+13C>T Single submitter hereditary spastic paraplegia 73
- c.1866+16G>A Single submitter hereditary spastic paraplegia 73
- c.2019+11A>C Single submitter hereditary spastic paraplegia 73
- c.2019+11A>G Single submitter hereditary spastic paraplegia 73
- c.2019+17A>G Single submitter hereditary spastic paraplegia 73
- c.2133+11C>T Single submitter hereditary spastic paraplegia 73
- c.2133+19G>C Single submitter hereditary spastic paraplegia 73
- c.2226+7C>T Single submitter
- c.2227-9T>C Single submitter hereditary spastic paraplegia 73
- c.281+8C>A Single submitter hereditary spastic paraplegia 73
- c.281+9C>T Single submitter hereditary spastic paraplegia 73
- c.282-12C>G Single submitter hereditary spastic paraplegia 73
- c.282-15T>C Single submitter hereditary spastic paraplegia 73
- c.282-5C>T Single submitter hereditary spastic paraplegia 73
- c.453+4T>C Single submitter hereditary spastic paraplegia 73
- c.556-14C>T Single submitter hereditary spastic paraplegia 73
- c.556-6C>T Single submitter hereditary spastic paraplegia 73
- c.556-9C>A Single submitter hereditary spastic paraplegia 73
- c.693+10G>A Single submitter hereditary spastic paraplegia 73
- c.693+11C>T Single submitter hereditary spastic paraplegia 73
- c.693+18C>T Single submitter hereditary spastic paraplegia 73
- c.693+7C>G Single submitter hereditary spastic paraplegia 73
- c.694-10C>G Single submitter hereditary spastic paraplegia 73
- c.694-14C>A Single submitter hereditary spastic paraplegia 73
- c.694-7C>T Single submitter hereditary spastic paraplegia 73
- c.694-8G>A Single submitter hereditary spastic paraplegia 73
- c.694-9C>G Single submitter hereditary spastic paraplegia 73
- c.694-9C>T Single submitter hereditary spastic paraplegia 73
- c.771+11G>A Single submitter hereditary spastic paraplegia 73
- c.771+20G>A Single submitter hereditary spastic paraplegia 73
- c.879+12C>T Single submitter hereditary spastic paraplegia 73
- c.879+13C>T Single submitter
- c.880-13C>T Single submitter hereditary spastic paraplegia 73
- c.965-12C>T Single submitter hereditary spastic paraplegia 73
- p.Ala107= Single submitter hereditary spastic paraplegia 73
- p.Ala111= Single submitter hereditary spastic paraplegia 73
- p.Ala203= Single submitter hereditary spastic paraplegia 73
- p.Ala407= Single submitter hereditary spastic paraplegia 73
- p.Ala411= Single submitter
- p.Ala656= Single submitter hereditary spastic paraplegia 73
- p.Ala7= Single submitter hereditary spastic paraplegia 73
- p.Ala712Gly Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala754= Single submitter hereditary spastic paraplegia 73
- p.Arg11= Single submitter hereditary spastic paraplegia 73
- p.Arg222= Single submitter
- p.Arg222Gln Single submitter
- p.Arg271= Single submitter hereditary spastic paraplegia 73
- p.Arg300= Single submitter hereditary spastic paraplegia 73
- p.Arg349= Single submitter hereditary spastic paraplegia 73
- p.Arg37= Single submitter hereditary spastic paraplegia 73
- p.Asn312= Single submitter hereditary spastic paraplegia 73
- p.Asp322= Single submitter hereditary spastic paraplegia 73
- p.Asp521= Single submitter hereditary spastic paraplegia 73
- p.Asp753= Single submitter hereditary spastic paraplegia 73
- p.Asp802Asn Single submitter
- p.Gln516= Single submitter hereditary spastic paraplegia 73
- p.Gln97His Single submitter hereditary spastic paraplegia 73
- p.Glu600= Single submitter hereditary spastic paraplegia 73
- p.Glu608= Single submitter hereditary spastic paraplegia 73
- p.Gly462= Single submitter hereditary spastic paraplegia 73
- p.Gly716= Single submitter hereditary spastic paraplegia 73
- p.Gly774= Single submitter hereditary spastic paraplegia 73
- p.Gly96= Single submitter hereditary spastic paraplegia 73
- p.His140= Single submitter hereditary spastic paraplegia 73
- p.His653= Single submitter
- p.His767= Single submitter hereditary spastic paraplegia 73
- p.His98= Single submitter hereditary spastic paraplegia 73
- p.His99= Single submitter hereditary spastic paraplegia 73
- p.Ile119= Single submitter hereditary spastic paraplegia 73
- p.Ile477= Single submitter hereditary spastic paraplegia 73
- p.Ile569= Single submitter hereditary spastic paraplegia 73
- p.Ile722Asn Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ile729= Single submitter hereditary spastic paraplegia 73
- p.Leu130Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Leu280= Single submitter hereditary spastic paraplegia 73
- p.Leu281= Single submitter
- p.Leu424= Single submitter hereditary spastic paraplegia 73
- p.Leu433= Single submitter hereditary spastic paraplegia 73
- p.Leu537= Single submitter
- p.Leu550= Single submitter hereditary spastic paraplegia 73
- p.Leu593= Single submitter hereditary spastic paraplegia 73
- p.Leu60= Single submitter hereditary spastic paraplegia 73
- p.Leu640= Single submitter hereditary spastic paraplegia 73
- p.Leu654= Single submitter hereditary spastic paraplegia 73
- p.Leu756= Single submitter hereditary spastic paraplegia 73
- p.Pro139= Single submitter
- p.Pro146= Single submitter hereditary spastic paraplegia 73
- p.Pro175= Single submitter hereditary spastic paraplegia 73
- p.Pro247= Single submitter hereditary spastic paraplegia 73
- p.Pro292Leu Single submitter
- p.Pro421= Single submitter hereditary spastic paraplegia 73
- p.Pro505= Single submitter hereditary spastic paraplegia 73
- p.Ser13= Single submitter hereditary spastic paraplegia 73
- p.Ser131= Single submitter hereditary spastic paraplegia 73
- p.Ser144= Single submitter hereditary spastic paraplegia 73
- p.Ser158= Single submitter hereditary spastic paraplegia 73
- p.Ser178= Single submitter
- p.Ser189= Single submitter hereditary spastic paraplegia 73
- p.Ser432= Single submitter hereditary spastic paraplegia 73
- p.Ser549= Single submitter hereditary spastic paraplegia 73
- p.Ser562= Single submitter hereditary spastic paraplegia 73
- p.Ser588= Single submitter hereditary spastic paraplegia 73
- p.Ser668= Single submitter hereditary spastic paraplegia 73
- p.Ser797= Single submitter hereditary spastic paraplegia 73
- p.Thr121= Single submitter hereditary spastic paraplegia 73
- p.Thr265= Single submitter hereditary spastic paraplegia 73
- p.Thr265Pro Single submitter hereditary spastic paraplegia 73
- p.Thr314= Single submitter hereditary spastic paraplegia 73
- p.Thr389= Single submitter hereditary spastic paraplegia 73
- p.Thr455= Single submitter hereditary spastic paraplegia 73
- p.Thr52= Single submitter hereditary spastic paraplegia 73
- p.Thr601= Single submitter hereditary spastic paraplegia 73
- p.Thr606= Single submitter hereditary spastic paraplegia 73
- p.Thr730= Single submitter hereditary spastic paraplegia 73
- p.Tyr323= Single submitter hereditary spastic paraplegia 73
- p.Tyr495= Single submitter hereditary spastic paraplegia 73
- p.Tyr586= Single submitter hereditary spastic paraplegia 73
- p.Val104= Single submitter hereditary spastic paraplegia 73
- p.Val124= Single submitter hereditary spastic paraplegia 73
- p.Val262= Single submitter hereditary spastic paraplegia 73
- p.Val276= Single submitter
- p.Val541= Single submitter hereditary spastic paraplegia 73
- p.Val545= Single submitter hereditary spastic paraplegia 73
- p.Phe594= No assertion criteria CPT1C-related disorder
Uncertain significance 222
- c.1160+3A>G Multiple submitters hereditary spastic paraplegia 73
- p.Ala117Val Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ala19Thr Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ala203Thr Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ala401Val Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ala422Thr Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ala431Val Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ala4Glu Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ala643Gly Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg102Gln Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg285His Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg288Cys Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg288His Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg288Leu Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg325His Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg41Thr Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg514Gln Multiple submitters hereditary spastic paraplegia ⚠
- p.Arg598Trp Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg652Cys Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg771Gln Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Arg789His Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Asp49Gly Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Gln180Arg Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Gln766His Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Glu237Lys Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Glu778Asp Multiple submitters hereditary spastic paraplegia ⚠
- p.Glu85Lys Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Gly533Val Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Gly710Val Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.His5Asn Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ile527Val Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Leu327Phe Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Met163Ile Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Phe336Leu Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Phe66Val Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Pro247Leu Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Pro374Ser Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Pro429Leu Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Pro505Leu Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Ser67Asn Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Thr485Ala Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Thr622Met Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Val104Phe Multiple submitters hereditary spastic paraplegia 73 ⚠
- p.Val319Phe Multiple submitters hereditary spastic paraplegia 73 ⚠
- c.1161-3C>T Single submitter hereditary spastic paraplegia 73
- c.1732-5C>T Single submitter hereditary spastic paraplegia 73
- c.1866+3G>A Single submitter hereditary spastic paraplegia 73
- c.2133+16C>T Single submitter hereditary spastic paraplegia 73
- c.2133+1G>C Single submitter hereditary spastic paraplegia 73
- c.2133+3G>A Single submitter hereditary spastic paraplegia 73
- c.282-3C>G Single submitter hereditary spastic paraplegia 73
- c.880-13C>A Single submitter hereditary spastic paraplegia 73
- p.Ala142Val Single submitter ⚠
- p.Ala152Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala19Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala206Val Single submitter ⚠
- p.Ala357Thr Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala381Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala407Glu Single submitter ⚠
- p.Ala422= Single submitter hereditary spastic paraplegia 73
- p.Ala422Glu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala422Ser Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala431Thr Single submitter ⚠
- p.Ala437Thr Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala442Gly Single submitter Spastic paraplegia ⚠
- p.Ala534Asp Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala570Thr Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala628Pro Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala633Pro Single submitter ⚠
- p.Ala68Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ala754Thr Single submitter ⚠
- p.Ala754Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg155Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg160Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg169Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg169His Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg243Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg271Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg283Cys Single submitter ⚠
- p.Arg300Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg315Trp Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg325Cys Single submitter ⚠
- p.Arg338= Single submitter hereditary spastic paraplegia 73
- p.Arg338Gln Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg338Trp Single submitter ⚠
- p.Arg340Gln Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg343Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg343Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg37His Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg444Gln Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg444Leu Single submitter ⚠
- p.Arg444Pro Single submitter ⚠
- p.Arg45His Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg45Leu Single submitter hereditary spastic paraplegia ⚠
- p.Arg514Trp Single submitter ⚠
- p.Arg557Gln Single submitter ⚠
- p.Arg577Gln Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg592Cys Single submitter ⚠
- p.Arg592His Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg598Gln Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg631Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg770Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg770His Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg771fs Single submitter hereditary spastic paraplegia 73
- p.Arg771Trp Single submitter ⚠
- p.Arg789Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Arg789Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Asn230Ser Single submitter hereditary spastic paraplegia 73 ⚠
- p.Asn230Thr Single submitter hereditary spastic paraplegia 73 ⚠
- p.Asn698Ser Single submitter hereditary spastic paraplegia 73 ⚠
- p.Asp17Glu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Asp418Glu Single submitter ⚠
- p.Asp428Asn Single submitter ⚠
- p.Asp49Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Asp518His Single submitter ⚠
- p.Asp564Gly Single submitter ⚠
- p.Asp726fs Single submitter hereditary spastic paraplegia 73
- p.Asp726Glu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Cys583Phe Single submitter ⚠
- p.Gln207Arg Single submitter ⚠
- p.Gln331Glu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Gln625Arg Single submitter ⚠
- p.Glu197Lys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Glu308Lys Single submitter ⚠
- p.Glu427Lys Single submitter ⚠
- p.Glu596Gln Single submitter hereditary spastic paraplegia 73 ⚠
- p.Glu608fs Single submitter
- p.Glu617Lys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Gly103Arg Single submitter hereditary spastic paraplegia 73 ⚠
- p.Gly103Val Single submitter ⚠
- p.Gly134Asp Single submitter ⚠
- p.Gly141Arg Single submitter hereditary spastic paraplegia 73 ⚠
- p.Gly18Arg Single submitter hereditary spastic paraplegia 73 ⚠
- p.Gly443Ser Single submitter ⚠
- p.Gly462Arg Single submitter hereditary spastic paraplegia 73 ⚠
- p.Gly53Ser Single submitter hereditary spastic paraplegia 73 ⚠
- p.Gly597Ser Single submitter ⚠
- p.Gly647Arg Single submitter hereditary spastic paraplegia 73 ⚠
- p.Gly765Ala Single submitter ⚠
- p.Gly774Arg Single submitter ⚠
- p.Gly776Arg Single submitter ⚠
- p.Gly9Asp Single submitter hereditary spastic paraplegia 73 ⚠
- p.His123Gln Single submitter hereditary spastic paraplegia 73 ⚠
- p.His284Tyr Single submitter ⚠
- p.His375Asn Single submitter hereditary spastic paraplegia 73 ⚠
- p.His42Asp Single submitter ⚠
- p.His504Tyr Single submitter ⚠
- p.His524Tyr Single submitter hereditary spastic paraplegia 73 ⚠
- p.His544Arg Single submitter CPT1C-related disorder ⚠
- p.His665Gln Single submitter hereditary spastic paraplegia 73 ⚠
- p.His745Tyr Single submitter ⚠
- p.Ile310Leu Single submitter ⚠
- p.Ile310Met Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ile316Thr Single submitter ⚠
- p.Ile569Leu Single submitter ⚠
- p.Leu327Ile Single submitter hereditary spastic paraplegia 73 ⚠
- p.Leu36Arg Single submitter hereditary spastic paraplegia 73 ⚠
- p.Leu493Met Single submitter hereditary spastic paraplegia 73 ⚠
- p.Leu561Phe Single submitter ⚠
- p.Leu75Phe Single submitter ⚠
- p.Lys741Ter Single submitter
- p.Met299Thr Single submitter ⚠
- p.Met691Val Single submitter hereditary spastic paraplegia 73 ⚠
- p.Phe459= Single submitter hereditary spastic paraplegia 73
- p.Phe66Leu Single submitter ⚠
- p.Pro175Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Pro293= Single submitter hereditary spastic paraplegia 73
- p.Pro293Leu Single submitter ⚠
- p.Pro355Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Pro371Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Pro687Ser Single submitter ⚠
- p.Pro92Thr Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser131Pro Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser131Tyr Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser145Phe Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser16Leu Single submitter ⚠
- p.Ser178Pro Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser229Ala Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser24Gly Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser330Gly Single submitter ⚠
- p.Ser432Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser44Pro Single submitter ⚠
- p.Ser526Cys Single submitter ⚠
- p.Ser538Phe Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser549Phe Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser588Leu Single submitter ⚠
- p.Ser668Pro Single submitter hereditary spastic paraplegia 73 ⚠
- p.Ser739Thr Single submitter ⚠
- p.Thr202Ile Single submitter hereditary spastic paraplegia 73 ⚠
- p.Thr294fs Single submitter hereditary spastic paraplegia 73
- p.Thr314Met Single submitter ⚠
- p.Thr389Arg Single submitter ⚠
- p.Thr389Met Single submitter hereditary spastic paraplegia 73 ⚠
- p.Thr591Ala Single submitter ⚠
- p.Thr601Ala Single submitter hereditary spastic paraplegia 73 ⚠
- p.Thr601Met Single submitter hereditary spastic paraplegia 73 ⚠
- p.Thr672fs Single submitter
- p.Thr672Ile Single submitter hereditary spastic paraplegia 73 ⚠
- p.Thr683Pro Single submitter hereditary spastic paraplegia 73 ⚠
- p.Thr740Ala Single submitter ⚠
- p.Thr742Met Single submitter hereditary spastic paraplegia 73 ⚠
- p.Trp150Ter Single submitter hereditary spastic paraplegia 73
- p.Trp226Arg Single submitter hereditary spastic paraplegia 73 ⚠
- p.Trp47Arg Single submitter ⚠
- p.Tyr702Cys Single submitter hereditary spastic paraplegia 73 ⚠
- p.Tyr702fs Single submitter hereditary spastic paraplegia 73
- p.Val124Met Single submitter ⚠
- p.Val154Asp Single submitter ⚠
- p.Val154Leu Single submitter ⚠
- p.Val183Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Val250Met Single submitter hereditary spastic paraplegia 73 ⚠
- p.Val276Ile Single submitter ⚠
- p.Val27Met Single submitter ⚠
- p.Val458Ile Single submitter ⚠
- p.Val468Met Single submitter hereditary spastic paraplegia 73 ⚠
- p.Val541Ala Single submitter ⚠
- p.Val613Ile Single submitter hereditary spastic paraplegia 73 ⚠
- p.Val613Leu Single submitter hereditary spastic paraplegia 73 ⚠
- p.Val660Leu Single submitter ⚠
- p.Val688Ile Single submitter hereditary spastic paraplegia 73 ⚠
- p.Val758Met Single submitter Spastic paraplegia ⚠
- p.Ala796Ser No assertion criteria CPT1C-related disorder ⚠