PLP1 — 469 ClinVar variants
All ClinVar germline PLP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 151 flagged for review →
65 Pathogenic · 14 Pathogenic/Likely pathogenic · 97 Likely pathogenic · 19 Conflicting · 24 Benign · 9 Benign/Likely benign · 93 Likely benign · 148 Uncertain significance
Full PLP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 151
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PLP1 p.His130Tyr
Likely pathogenic
Multiple submitters
hereditary spastic paraplegia 2
- PLP1 p.Arg137Leu Likely pathogenic Single submitter
-
PLP1 p.Ala242Val
Pathogenic
No assertion criteria
Pelizaeus-Merzbacher disease, connatal
-
PLP1 p.Lys122Arg
Likely pathogenic
No assertion criteria
hereditary spastic paraplegia 2
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PLP1 p.Gly246Arg
Conflicting
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.His37Pro
Conflicting
Single submitter
Inborn genetic diseases
-
PLP1 p.Ile155Asn
Conflicting
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Leu225Pro
Conflicting
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Thr183Asn
Conflicting
Single submitter
hereditary spastic paraplegia 2
Predicted LoF vs a conflicting call 2
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.
-
PLP1 p.Arg273Ter
Conflicting
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Ter278Cys
Conflicting
Single submitter
Pelizaeus-Merzbacher spectrum disorder
Predictors lean, ClinVar uncertain 69
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PLP1 p.Ala195Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 2
-
PLP1 p.Ala84Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLP1 p.Cys33Phe
Uncertain significance
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.His140Tyr
Uncertain significance
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Ile65Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 2
-
PLP1 p.Ile65Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLP1 p.Pro173Arg
Uncertain significance
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Val29Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PLP1 p.Ala115Thr Uncertain significance Single submitter
-
PLP1 p.Ala14Asp
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Ala14Thr Uncertain significance Single submitter
-
PLP1 p.Ala171Gly
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Ala195Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Ala39Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Ala84Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
- PLP1 p.Ala84Val Uncertain significance Single submitter
-
PLP1 p.Arg137Gln
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Arg205Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
- PLP1 p.Cys201Phe Uncertain significance Single submitter
-
PLP1 p.Cys33Arg
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Cys7Tyr Uncertain significance Single submitter
- PLP1 p.Gln129His Uncertain significance Single submitter
-
PLP1 p.Gln69Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Gly208Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLP1 p.Gly221Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
- PLP1 p.Gly23Arg Uncertain significance Single submitter
- PLP1 p.Gly2Arg Uncertain significance Single submitter
- PLP1 p.Gly36Arg Uncertain significance Single submitter
-
PLP1 p.Gly83Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Gly95Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PLP1 p.His130Arg Uncertain significance Single submitter
-
PLP1 p.His130Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Ile108Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Ile187Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
- PLP1 p.Ile197Leu Uncertain significance Single submitter
-
PLP1 p.Ile227Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Ile65Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Leu159Pro
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Leu224Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
- PLP1 p.Leu85His Uncertain significance Single submitter
- PLP1 p.Lys218Arg Uncertain significance Single submitter
- PLP1 p.Met258Arg Uncertain significance Single submitter
-
PLP1 p.Phe178Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Phe32Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Ser126Phe
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Ser134Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Ser226Cys
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Ser77Pro Uncertain significance Single submitter
-
PLP1 p.Ser77Tyr
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Thr160Ile Uncertain significance Single submitter
-
PLP1 p.Thr180Asn
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Thr182Ile Uncertain significance Single submitter
-
PLP1 p.Thr22Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- PLP1 p.Thr22Pro Uncertain significance Single submitter
-
PLP1 p.Thr230Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Thr256Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Thr262Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Thr75Pro
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Trp163Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Trp181Cys
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Trp181Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Tyr263Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Val12Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Val138Ala
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Val161Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Val162Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Val245Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Val71Asp
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Pro173Thr
Uncertain significance
No assertion criteria
PLP1-related disorder
Predictors split 71
The independent predictors disagree with each other — read with care.
-
PLP1 p.Ala17Thr
Uncertain significance
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Ala204Thr Uncertain significance Multiple submitters
-
PLP1 p.Ala248Thr
Uncertain significance
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Ala96Thr
Uncertain significance
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Arg124Trp Uncertain significance Multiple submitters
-
PLP1 p.Gly110Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 2
-
PLP1 p.Gly2Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 2
-
PLP1 p.His133Leu
Uncertain significance
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.His148Tyr
Pathogenic/Likely pathogenic
Multiple submitters
hereditary spastic paraplegia
-
PLP1 p.Leu210Phe
Likely pathogenic
Multiple submitters
PLP1-related disorder
-
PLP1 p.Leu255Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
- PLP1 p.Leu31Val Uncertain significance Multiple submitters
-
PLP1 p.Phe237Ser
Pathogenic/Likely pathogenic
Multiple submitters
PLP1-related disorder
-
PLP1 p.Phe277Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PLP1 p.Phe32Leu
Likely pathogenic
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Pro149Leu
Uncertain significance
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Pro216Leu
Likely pathogenic
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Ser226Pro
Pathogenic/Likely pathogenic
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Thr116Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 2
-
PLP1 p.Val219Phe
Likely pathogenic
Multiple submitters
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Ala195Asp
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Ala247Thr Conflicting Single submitter
- PLP1 p.Ala248Ser Conflicting Single submitter
-
PLP1 p.Arg127Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Arg137Gly
Conflicting
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Arg137Trp
Conflicting
Single submitter
hereditary spastic paraplegia 2
- PLP1 p.Arg273Leu Uncertain significance Single submitter
-
PLP1 p.Arg9Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Asn223Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Asp103Gly
Uncertain significance
Single submitter
PLP1-related disorder
-
PLP1 p.Asp57Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Cys139Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLP1 p.Cys25Phe
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Cys6Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLP1 p.Gln234Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
- PLP1 p.Gly110Cys Uncertain significance Single submitter
-
PLP1 p.Gly125Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLP1 p.Gly217Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Gly42Asp
Likely pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Ile176Val Uncertain significance Single submitter
- PLP1 p.Ile62Asn Uncertain significance Single submitter
-
PLP1 p.Ile72Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Lys151Asn
Likely pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Lys229Asn Uncertain significance Single submitter
-
PLP1 p.Met206Arg
Likely pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Met206Lys
Uncertain significance
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Met206Thr
Likely pathogenic
Single submitter
PLP1-related disorder
- PLP1 p.Phe189Leu Uncertain significance Single submitter
-
PLP1 p.Phe233Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Phe237Val
Likely pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Phe240Leu Uncertain significance Single submitter
-
PLP1 p.Phe244Val
Likely pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Phe68Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Pro15Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Pro216Ser
Pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Pro216Thr
Pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Ser114Arg Uncertain significance Single submitter
-
PLP1 p.Ser114Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 2
-
PLP1 p.Ser191Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PLP1 p.Ser253Cys
Likely pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Ser253Phe
Likely pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Thr107Ala Uncertain significance Single submitter
- PLP1 p.Thr116Arg Uncertain significance Single submitter
-
PLP1 p.Thr116Lys
Likely pathogenic
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Thr250Ile Uncertain significance Single submitter
-
PLP1 p.Trp212Arg
Conflicting
Single submitter
Pelizaeus-Merzbacher spectrum disorder
- PLP1 p.Tyr60His Uncertain significance Single submitter
-
PLP1 p.Tyr82Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
PLP1 p.Asp57Tyr
Pathogenic
No assertion criteria
Pelizaeus-Merzbacher spectrum disorder
-
PLP1 p.Gly90Ser
Uncertain significance
No assertion criteria
PLP1-related disorder
-
PLP1 p.Thr156Ile
Pathogenic
No assertion criteria
Pelizaeus-Merzbacher spectrum disorder
All PLP1 variants
Pathogenic 65
- c.191+1G>A Multiple submitters hereditary spastic paraplegia 2
- c.4+1del Multiple submitters hereditary spastic paraplegia 2
- c.454-1G>A Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Asp203Asn Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Gln69Ter Multiple submitters hereditary spastic paraplegia 2
- p.Met1Arg Multiple submitters Inborn genetic diseases
- p.Met1Thr Multiple submitters Inborn genetic diseases
- p.Met1Val Multiple submitters PLP1-related disorder
- c.191+1G>T Single submitter
- c.4+1G>A Single submitter hereditary spastic paraplegia 2
- c.4+1G>T Single submitter hereditary spastic paraplegia 2
- c.453+159G>A Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.453+1G>C Single submitter
- c.454-1G>T Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.454-2A>G Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.454-314T>G Single submitter hereditary spastic paraplegia 2
- c.622+1G>A Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.697-1G>A Single submitter hereditary spastic paraplegia 2
- c.697-2A>C Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.762+2T>C Single submitter
- p.Ala243Val Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Arg127fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Arg205fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Cys139fs Single submitter hereditary spastic paraplegia 2
- p.Cys228Ter Single submitter
- p.Cys7Ter Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gln121Ter Single submitter hereditary spastic paraplegia 2
- p.Gln129fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gln185Ter Single submitter hereditary spastic paraplegia 2
- p.Gln56Ter Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gln99Ter Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Glu136fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Glu136Ter Single submitter hereditary spastic paraplegia 2
- p.Glu48fs Single submitter hereditary spastic paraplegia 2
- p.Glu59Ter Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gly120fs Single submitter
- p.Gly143fs Single submitter hereditary spastic paraplegia 2
- p.Gly74Ter Single submitter hereditary spastic paraplegia 2
- p.Gly95fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ile197fs Single submitter hereditary spastic paraplegia 2
- p.Leu224Phe Single submitter hereditary spastic paraplegia 2
- p.Leu225fs Single submitter
- p.Met1fs Single submitter hereditary spastic paraplegia 2
- p.Met1Ile Single submitter hereditary spastic paraplegia 2
- p.Met1Lys Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Pro216Ser Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Pro216Thr Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ser126fs Single submitter hereditary spastic paraplegia 2
- p.Ser222Cys Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Trp163Ter Single submitter hereditary spastic paraplegia 2
- p.Tyr60fs Single submitter hereditary spastic paraplegia 2
- p.Tyr60Ter Single submitter hereditary spastic paraplegia 2
- p.Tyr70Ter Single submitter PLP1-related disorder
- p.Val12fs Single submitter hereditary spastic paraplegia 2
- p.Cys139fs Single submitter hereditary spastic paraplegia 2
- p.Trp145Ter Single submitter hereditary spastic paraplegia 2
- p.Ala247fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ala242Val No assertion criteria Pelizaeus-Merzbacher disease, connatal ⚠
- p.Asp203His No assertion criteria Pelizaeus-Merzbacher spectrum disorder
- p.Asp57Tyr No assertion criteria Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Gly208Val No assertion criteria Auditory neuropathy spectrum disorder
- p.Gly221Cys No assertion criteria Pelizaeus-Merzbacher disease, connatal
- p.Gly74Arg No assertion criteria Pelizaeus-Merzbacher spectrum disorder
- p.Thr156Ile No assertion criteria Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Thr182Pro No assertion criteria Pelizaeus-Merzbacher spectrum disorder
Pathogenic/Likely pathogenic 14
- c.453+2T>C Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- c.454-10A>G Multiple submitters PLP1-related disorder
- c.696+1G>A Multiple submitters Inborn genetic diseases
- p.Gly246Ala Multiple submitters hereditary spastic paraplegia 2
- p.His148Tyr Multiple submitters hereditary spastic paraplegia ⚠
- p.His238fs Multiple submitters hereditary spastic paraplegia 2
- p.Ile187Thr Multiple submitters hereditary spastic paraplegia 2
- p.Lys151= Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Phe237Ser Multiple submitters PLP1-related disorder ⚠
- p.Pro15Leu Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Ser226Pro Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Trp145Ter Multiple submitters hereditary spastic paraplegia 2
- p.Tyr58Cys Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Val252fs Multiple submitters Pelizaeus-Merzbacher spectrum disorder
Likely pathogenic 97
- p.Cys220Gly Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Gln69Leu Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.His130Tyr Multiple submitters hereditary spastic paraplegia 2 ⚠
- p.Ile47Thr Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Leu210Phe Multiple submitters PLP1-related disorder ⚠
- p.Leu31Arg Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Leu85Arg Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Phe32Leu Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Pro216Leu Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Trp163Arg Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Val219Phe Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- c.192-2A>C Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.192-2A>G Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.453+164G>A Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.453+1G>T Single submitter hereditary spastic paraplegia 2
- c.453+28_453+46del Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.453+3G>C Single submitter
- c.453+4A>G Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.454-314T>A Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.5-1G>A Single submitter hereditary spastic paraplegia 2
- p.Ile197fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.623-2A>C Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.697-54_711delinsTTTATT Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.762+3G>T Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.763-1G>T Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ala115fs Single submitter hereditary spastic paraplegia 2
- p.Ala21Val Single submitter
- p.Ala243Glu Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ala247fs Single submitter
- p.Ala248Glu Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ala76Pro Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Arg137Leu Single submitter ⚠
- p.Arg205Gly Single submitter PLP1-related disorder
- p.Asp203Gly Single submitter hereditary spastic paraplegia 2
- p.Cys169Arg Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Cys184Tyr Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Cys201fs Single submitter PLP1-related disorder
- p.Cys220Arg Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Cys220Phe Single submitter PLP1-related disorder
- p.Cys228Tyr Single submitter
- p.Cys33Tyr Single submitter
- p.Cys35Arg Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Cys35Ter Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Cys35Tyr Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gln129Ter Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gln185fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Glu232Lys Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Glu38del Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gly217Asp Single submitter hereditary spastic paraplegia 2
- p.Gly246Trp Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gly28Glu Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gly42Asp Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Gly74Glu Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu19Pro Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu224Ile Single submitter hereditary spastic paraplegia 2
- p.Leu239Pro Single submitter
- p.Leu251Pro Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu254= Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu254Pro Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu31Pro Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu40His Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu46Pro Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu81Arg Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu85Pro Single submitter PLP1-related disorder
- p.Leu86fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Leu87Pro Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Lys122fs Single submitter PLP1-related disorder
- p.Lys144Ter Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Lys151Asn Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Met206Arg Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Met206Thr Single submitter PLP1-related disorder ⚠
- p.Phe215fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Phe237Val Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Phe244Val Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Phe51Val Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Pro173Ser Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ser170Phe Single submitter hereditary spastic paraplegia 2
- p.Ser18fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ser253Cys Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ser253Phe Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ter278Trp Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Thr116Lys Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Thr41Pro Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Thr43Ile Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Trp181_Thr183del Single submitter
- p.Trp212Ter Single submitter PLP1-related disorder
- p.Tyr177Ter Single submitter
- p.Tyr207Asn Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Tyr207His Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Tyr263Ter Single submitter hereditary spastic paraplegia 2
- p.Val138fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Val153fs Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Val219Gly Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Arg9Ter No assertion criteria Spasticity
- p.Cys141fs No assertion criteria hereditary spastic paraplegia 2
- p.Leu142fs No assertion criteria Pelizaeus-Merzbacher spectrum disorder
- p.Lys122Arg No assertion criteria hereditary spastic paraplegia 2 ⚠
Conflicting classifications of pathogenicity 19
- c.453+8T>C Single submitter hereditary spastic paraplegia 2
- c.696+8G>T Single submitter hereditary spastic paraplegia 2
- c.762+5G>A Single submitter hereditary spastic paraplegia 2
- p.Ala247Thr Single submitter ⚠
- p.Ala248Ser Single submitter ⚠
- p.Arg137Gly Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Arg137Trp Single submitter hereditary spastic paraplegia 2 ⚠
- p.Arg273Ter Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Gly246Arg Single submitter hereditary spastic paraplegia 2 ⚠
- p.His37Pro Single submitter Inborn genetic diseases ⚠
- p.Ile155Asn Single submitter hereditary spastic paraplegia 2 ⚠
- p.Leu146= Single submitter hereditary spastic paraplegia
- p.Leu225Pro Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Phe80del Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ser126= Single submitter hereditary spastic paraplegia 2
- p.Ter278Cys Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Thr183Asn Single submitter hereditary spastic paraplegia 2 ⚠
- p.Thr193Asn Single submitter Inborn genetic diseases
- p.Trp212Arg Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
Benign 24
- c.622+235A>G Multiple submitters
- c.696+295T>G Multiple submitters
- c.*102C>T Multiple submitters
- p.Asp203= Multiple submitters hereditary spastic paraplegia
- p.Thr183= Multiple submitters hereditary spastic paraplegia 2
- c.191+17C>T Single submitter hereditary spastic paraplegia 2
- c.191+19A>T Single submitter hereditary spastic paraplegia 2
- c.453+43del Single submitter hereditary spastic paraplegia 2
- c.454-371G>A Single submitter
- c.454-463G>A Single submitter
- c.5-111T>C Single submitter
- c.5-14T>C Single submitter hereditary spastic paraplegia 2
- c.5-9C>G Single submitter hereditary spastic paraplegia 2
- c.623-13G>T Single submitter hereditary spastic paraplegia 2
- c.763-304dup Single submitter
- c.-143-78dup Single submitter
- p.Ala21= Single submitter hereditary spastic paraplegia 2
- p.Ala266= Single submitter hereditary spastic paraplegia 2
- p.Arg205= Single submitter hereditary spastic paraplegia 2
- p.Gly34Val Single submitter hereditary spastic paraplegia 2
- p.His66= Single submitter hereditary spastic paraplegia 2
- p.Ser196Gly Single submitter hereditary spastic paraplegia 2
- c.5-1636_5-1619dup No assertion criteria
- c.5-3598del No assertion criteria
Benign/Likely benign 9
- c.5-15C>G Multiple submitters hereditary spastic paraplegia 2
- c.622+28C>G Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- c.763-20C>A Multiple submitters hereditary spastic paraplegia 2
- c.-31C>T Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Gln56= Multiple submitters Pelizaeus-Merzbacher spectrum disorder
- p.Gly154Ser Multiple submitters polycystic kidney disease 1
- p.Gly198= Multiple submitters hereditary spastic paraplegia 2
- p.Ser222= Multiple submitters hereditary spastic paraplegia 2
- p.Thr193= Multiple submitters hereditary spastic paraplegia 2
Likely benign 93
- c.622+15G>A Multiple submitters hereditary spastic paraplegia 2
- p.Leu85= Multiple submitters hereditary spastic paraplegia 2
- p.Phe79= Multiple submitters hereditary spastic paraplegia 2
- p.Tyr82= Multiple submitters hereditary spastic paraplegia 2
- p.Val267Ile Multiple submitters hereditary spastic paraplegia 2
- c.191+19A>G Single submitter hereditary spastic paraplegia 2
- c.192-10G>A Single submitter hereditary spastic paraplegia 2
- c.192-19T>A Single submitter hereditary spastic paraplegia 2
- c.192-69T>C Single submitter
- c.192-9T>A Single submitter hereditary spastic paraplegia 2
- c.4+16T>C Single submitter hereditary spastic paraplegia 2
- c.4+66A>C Single submitter
- c.453+123C>T Single submitter
- c.453+16A>G Single submitter hereditary spastic paraplegia 2
- c.453+37G>T Single submitter hereditary spastic paraplegia 2
- c.453+416T>G Single submitter
- c.453+43G>A Single submitter hereditary spastic paraplegia 2
- c.453+44A>G Single submitter hereditary spastic paraplegia 2
- c.453+9C>T Single submitter hereditary spastic paraplegia 2
- c.454-15T>C Single submitter hereditary spastic paraplegia 2
- c.454-16A>C Single submitter hereditary spastic paraplegia 2
- c.454-16A>G Single submitter hereditary spastic paraplegia 2
- c.5-10T>A Single submitter hereditary spastic paraplegia 2
- c.5-12C>T Single submitter hereditary spastic paraplegia 2
- c.5-13dup Single submitter hereditary spastic paraplegia 2
- c.5-16C>A Single submitter hereditary spastic paraplegia 2
- c.5-17C>T Single submitter hereditary spastic paraplegia 2
- c.5-6C>T Single submitter hereditary spastic paraplegia 2
- c.5-8T>C Single submitter hereditary spastic paraplegia 2
- c.622+14C>T Single submitter hereditary spastic paraplegia 2
- c.622+8A>G Single submitter hereditary spastic paraplegia 2
- c.623-19C>T Single submitter hereditary spastic paraplegia 2
- c.696+17G>T Single submitter hereditary spastic paraplegia 2
- c.697-12A>C Single submitter hereditary spastic paraplegia 2
- c.697-12A>G Single submitter hereditary spastic paraplegia 2
- c.762+9A>G Single submitter hereditary spastic paraplegia 2
- c.763-16C>T Single submitter hereditary spastic paraplegia 2
- c.763-17_763-14del Single submitter hereditary spastic paraplegia 2
- c.-143-51C>T Single submitter
- c.-143-77_-143-68del Single submitter
- c.*6C>T Single submitter
- p.Ala115= Single submitter hereditary spastic paraplegia 2
- p.Ala188= Single submitter hereditary spastic paraplegia 2
- p.Ala202= Single submitter hereditary spastic paraplegia 2
- p.Ala214= Single submitter hereditary spastic paraplegia 2
- p.Ala248= Single submitter hereditary spastic paraplegia 2
- p.Asn223= Single submitter hereditary spastic paraplegia 2
- p.Cys10= Single submitter hereditary spastic paraplegia 2
- p.Cys109= Single submitter hereditary spastic paraplegia 2
- p.Cys33= Single submitter hereditary spastic paraplegia 2
- p.Cys6= Single submitter hereditary spastic paraplegia 2
- p.Glu136= Single submitter hereditary spastic paraplegia 2
- p.Glu5= Single submitter hereditary spastic paraplegia 2
- p.Glu89= Single submitter hereditary spastic paraplegia 2
- p.Gly102= Single submitter hereditary spastic paraplegia 2
- p.Gly112= Single submitter hereditary spastic paraplegia 2
- p.Gly119= Single submitter hereditary spastic paraplegia 2
- p.Gly13= Single submitter hereditary spastic paraplegia 2
- p.Gly143= Single submitter Inborn genetic diseases
- p.Gly217= Single submitter hereditary spastic paraplegia 2
- p.Gly90= Single submitter hereditary spastic paraplegia 2
- p.Gly95= Single submitter Inborn genetic diseases
- p.Ile47= Single submitter hereditary spastic paraplegia 2
- p.Leu142= Single submitter hereditary spastic paraplegia 2
- p.Leu159= Single submitter hereditary spastic paraplegia 2
- p.Leu4= Single submitter hereditary spastic paraplegia 2
- p.Leu40= Single submitter hereditary spastic paraplegia 2
- p.Leu46= Single submitter hereditary spastic paraplegia 2
- p.Leu87= Single submitter hereditary spastic paraplegia 2
- p.Phe265= Single submitter hereditary spastic paraplegia 2
- p.Ser114= Single submitter hereditary spastic paraplegia 2
- p.Ser199= Single submitter hereditary spastic paraplegia 2
- p.Thr106= Single submitter hereditary spastic paraplegia 2
- p.Thr160= Single submitter hereditary spastic paraplegia 2
- p.Thr182= Single submitter hereditary spastic paraplegia 2
- p.Thr236= Single submitter hereditary spastic paraplegia 2
- p.Thr41= Single submitter hereditary spastic paraplegia 2
- p.Thr41Ile Single submitter Inborn genetic diseases
- p.Thr93= Single submitter hereditary spastic paraplegia 2
- p.Thr94= Single submitter hereditary spastic paraplegia 2
- p.Tyr104= Single submitter hereditary spastic paraplegia 2
- p.Tyr177= Single submitter hereditary spastic paraplegia 2
- p.Val162= Single submitter hereditary spastic paraplegia 2
- p.Val174= Single submitter hereditary spastic paraplegia 2
- p.Val245= Single submitter hereditary spastic paraplegia 2
- p.Val267= Single submitter hereditary spastic paraplegia 2
- p.Val97= Single submitter hereditary spastic paraplegia 2
- p.Leu4= Single submitter
- p.Leu40= Single submitter hereditary spastic paraplegia 2
- p.Leu87= Single submitter hereditary spastic paraplegia 2
- p.Val245= Single submitter hereditary spastic paraplegia 2
- c.4+74G>T No assertion criteria PLP1-related disorder
- c.453+55C>T No assertion criteria PLP1-related disorder
Uncertain significance 148
- c.4+4A>C Multiple submitters Inborn genetic diseases
- c.697-3C>T Multiple submitters hereditary spastic paraplegia 2
- p.Ala17Thr Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ala195Val Multiple submitters hereditary spastic paraplegia 2 ⚠
- p.Ala204Thr Multiple submitters ⚠
- p.Ala248Thr Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ala84Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala96Thr Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Arg124Trp Multiple submitters ⚠
- p.Cys33Phe Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Gly110Ser Multiple submitters hereditary spastic paraplegia 2 ⚠
- p.Gly2Asp Multiple submitters hereditary spastic paraplegia 2 ⚠
- p.His133Leu Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.His140Tyr Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ile65Ser Multiple submitters hereditary spastic paraplegia 2 ⚠
- p.Ile65Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu255Phe Multiple submitters hereditary spastic paraplegia ⚠
- p.Leu31Val Multiple submitters ⚠
- p.Phe277Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro149Leu Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Pro173Arg Multiple submitters Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Thr116Met Multiple submitters hereditary spastic paraplegia 2 ⚠
- p.Val29Leu Multiple submitters Inborn genetic diseases ⚠
- c.191+4A>G Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.191+5G>C Single submitter
- c.191+6T>C Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.4+5G>A Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.4+69T>C Single submitter
- c.453+7A>G Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.454-20C>A Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.454-316C>G Single submitter
- c.454-319C>A Single submitter
- c.622+5G>A Single submitter
- c.696+3G>A Single submitter hereditary spastic paraplegia 2
- c.696+5G>C Single submitter
- c.697-3C>A Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.762+1G>A Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.762+3G>A Single submitter
- c.763-3C>T Single submitter hereditary spastic paraplegia 2
- c.-144+6C>A Single submitter
- c.-1C>T Single submitter
- p.Ala115Thr Single submitter ⚠
- p.Ala14Asp Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ala14Thr Single submitter ⚠
- p.Ala171Gly Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ala195Asp Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ala195Ser Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ala39Asp Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ala84Asp Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ala84Val Single submitter ⚠
- p.Arg127Thr Single submitter hereditary spastic paraplegia 2 ⚠
- p.Arg137Gln Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Arg205Lys Single submitter hereditary spastic paraplegia 2 ⚠
- p.Arg273Leu Single submitter ⚠
- p.Arg9Thr Single submitter hereditary spastic paraplegia 2 ⚠
- p.Asn223Lys Single submitter hereditary spastic paraplegia 2 ⚠
- p.Asp103Gly Single submitter PLP1-related disorder ⚠
- p.Asp57Asn Single submitter hereditary spastic paraplegia 2 ⚠
- p.Cys139Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys201Phe Single submitter ⚠
- p.Cys25Phe Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Cys33Arg Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Cys6Gly Single submitter Inborn genetic diseases ⚠
- p.Cys7Tyr Single submitter ⚠
- p.Gln129His Single submitter ⚠
- p.Gln234Leu Single submitter hereditary spastic paraplegia 2 ⚠
- p.Gln69Pro Single submitter hereditary spastic paraplegia 2 ⚠
- p.Gly110Cys Single submitter ⚠
- p.Gly119fs Single submitter polycystic kidney disease 1
- p.Gly125Val Single submitter Inborn genetic diseases ⚠
- p.Gly128= Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Gly147= Single submitter hereditary spastic paraplegia 2
- p.Gly208Asp Single submitter Inborn genetic diseases ⚠
- p.Gly217Ser Single submitter hereditary spastic paraplegia 2 ⚠
- p.Gly221Ser Single submitter hereditary spastic paraplegia 2 ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly2Arg Single submitter ⚠
- p.Gly36Arg Single submitter ⚠
- p.Gly83Glu Single submitter hereditary spastic paraplegia 2 ⚠
- p.Gly95Ser Single submitter Inborn genetic diseases ⚠
- p.His130Arg Single submitter ⚠
- p.His130Asn Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ile108Leu Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ile176Val Single submitter ⚠
- p.Ile187Met Single submitter Inborn genetic diseases
- p.Ile187Ser Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ile197Leu Single submitter ⚠
- p.Ile227Asn Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ile62Asn Single submitter ⚠
- p.Ile65Asn Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ile72Leu Single submitter hereditary spastic paraplegia 2 ⚠
- p.Leu159Pro Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Leu224Pro Single submitter hereditary spastic paraplegia 2 ⚠
- p.Leu225del Single submitter Inborn genetic diseases
- p.Leu85His Single submitter ⚠
- p.Lys111Thr Single submitter
- p.Lys218Arg Single submitter ⚠
- p.Lys229Asn Single submitter ⚠
- p.Lys53Gln Single submitter hereditary spastic paraplegia 2
- p.Met206Lys Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Met258Arg Single submitter ⚠
- p.Phe178Cys Single submitter hereditary spastic paraplegia 2 ⚠
- p.Phe189Leu Single submitter ⚠
- p.Phe233Ser Single submitter hereditary spastic paraplegia 2 ⚠
- p.Phe240Leu Single submitter ⚠
- p.Phe32Ser Single submitter hereditary spastic paraplegia 2 ⚠
- p.Phe68Leu Single submitter hereditary spastic paraplegia 2 ⚠
- p.Pro15Ser Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ser114Arg Single submitter ⚠
- p.Ser114Gly Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ser126Phe Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ser134Phe Single submitter hereditary spastic paraplegia 2 ⚠
- p.Ser191Arg Single submitter Inborn genetic diseases ⚠
- p.Ser226Cys Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Ser77_Phe78insAlaSer Single submitter Pelizaeus-Merzbacher spectrum disorder
- p.Ser77Pro Single submitter ⚠
- p.Ser77Tyr Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Thr107Ala Single submitter ⚠
- p.Thr116Arg Single submitter ⚠
- p.Thr118Ile Single submitter
- p.Thr160Ile Single submitter ⚠
- p.Thr180Asn Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Thr182Ile Single submitter ⚠
- p.Thr22Ala Single submitter Inborn genetic diseases ⚠
- p.Thr22Pro Single submitter ⚠
- p.Thr230Arg Single submitter hereditary spastic paraplegia 2 ⚠
- p.Thr250Ile Single submitter ⚠
- p.Thr256Pro Single submitter hereditary spastic paraplegia 2 ⚠
- p.Thr262Ser Single submitter hereditary spastic paraplegia 2 ⚠
- p.Thr75Pro Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Trp163Cys Single submitter hereditary spastic paraplegia 2 ⚠
- p.Trp181Cys Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Trp181Gly Single submitter hereditary spastic paraplegia 2 ⚠
- p.Tyr263Cys Single submitter hereditary spastic paraplegia 2 ⚠
- p.Tyr263fs Single submitter hereditary spastic paraplegia 2
- p.Tyr60His Single submitter ⚠
- p.Tyr82Cys Single submitter hereditary spastic paraplegia ⚠
- p.Val12Ala Single submitter hereditary spastic paraplegia 2 ⚠
- p.Val138Ala Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Val161Ile Single submitter hereditary spastic paraplegia 2 ⚠
- p.Val162Ala Single submitter hereditary spastic paraplegia 2 ⚠
- p.Val245Glu Single submitter hereditary spastic paraplegia 2 ⚠
- p.Val245Leu Single submitter
- p.Val71Asp Single submitter Pelizaeus-Merzbacher spectrum disorder ⚠
- p.Gly147= Single submitter Pelizaeus-Merzbacher spectrum disorder
- c.4+81G>A No assertion criteria PLP1-related disorder
- p.Gly90Ser No assertion criteria PLP1-related disorder ⚠
- p.Pro173Thr No assertion criteria PLP1-related disorder ⚠