VPS37A — 249 ClinVar variants
All ClinVar germline VPS37A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 117 flagged for review →
1 Pathogenic · 4 Conflicting · 27 Benign · 6 Benign/Likely benign · 81 Likely benign · 130 Uncertain significance
Full VPS37A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 117
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
VPS37A p.Ala386Val
Conflicting
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Leu234Ile
Conflicting
Single submitter
hereditary spastic paraplegia 53
Predictors lean, ClinVar uncertain 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
VPS37A p.Ala176Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Ala193Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Ala388Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Asp271Gly
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
- VPS37A p.Gln385Pro Uncertain significance Multiple submitters
-
VPS37A p.Glu249Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.His186Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
VPS37A p.Ile276Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Ile63Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
- VPS37A p.Leu119Val Uncertain significance Multiple submitters
-
VPS37A p.Leu298Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Leu330Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Lys263Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Lys274Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Met389Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Pro144Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
- VPS37A p.Pro160Ala Uncertain significance Multiple submitters
-
VPS37A p.Pro214Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Ser142Gly
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
- VPS37A p.Ser145Asn Uncertain significance Multiple submitters
-
VPS37A p.Ser216Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Thr133Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
VPS37A p.Thr310Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
VPS37A p.Ala11Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Ala11Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Ala136Thr Uncertain significance Single submitter
-
VPS37A p.Ala151Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Ala176Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Ala193Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Ala292Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Ala292Thr Uncertain significance Single submitter
- VPS37A p.Ala329Val Uncertain significance Single submitter
-
VPS37A p.Arg317Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Asn246Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Asn246Lys Uncertain significance Single submitter
- VPS37A p.Asp121Ala Uncertain significance Single submitter
-
VPS37A p.Asp121Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Asp210Asn Uncertain significance Single submitter
- VPS37A p.Asp210Gly Uncertain significance Single submitter
-
VPS37A p.Asp226His
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Asp268Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Asp351Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Asp361Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Gln117Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Gln264Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Gln26Pro Uncertain significance Single submitter
- VPS37A p.Gln72Glu Uncertain significance Single submitter
-
VPS37A p.Gln72Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Gly219Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Gly21Ser Uncertain significance Single submitter
- VPS37A p.His319Asn Uncertain significance Single submitter
-
VPS37A p.His390Tyr
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Ile266Val Uncertain significance Single submitter
- VPS37A p.Ile359Thr Uncertain significance Single submitter
- VPS37A p.Ile372Thr Uncertain significance Single submitter
- VPS37A p.Ile387Leu Uncertain significance Single submitter
-
VPS37A p.Ile86Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Leu259Phe Uncertain significance Single submitter
-
VPS37A p.Leu285Val
Uncertain significance
Single submitter
hereditary spastic paraplegia
- VPS37A p.Leu303Phe Uncertain significance Single submitter
- VPS37A p.Lys223Gln Uncertain significance Single submitter
- VPS37A p.Lys314Glu Uncertain significance Single submitter
-
VPS37A p.Lys382Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Met108Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Met224Leu Uncertain significance Single submitter
-
VPS37A p.Met389Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Pro138Ser Uncertain significance Single submitter
- VPS37A p.Pro149Thr Uncertain significance Single submitter
-
VPS37A p.Pro191Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Pro260Ser Uncertain significance Single submitter
-
VPS37A p.Ser180Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia
- VPS37A p.Ser18Phe Uncertain significance Single submitter
-
VPS37A p.Ser240Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Ser289Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Ser289Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Ser322Asn Uncertain significance Single submitter
- VPS37A p.Ser364Asn Uncertain significance Single submitter
- VPS37A p.Ser365Asn Uncertain significance Single submitter
-
VPS37A p.Thr135Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Thr171Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Thr171Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Thr178Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Thr178Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Thr184Ala Uncertain significance Single submitter
- VPS37A p.Thr187Ala Uncertain significance Single submitter
-
VPS37A p.Thr187Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Thr208Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Thr215Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Thr310Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia
- VPS37A p.Thr57Ser Uncertain significance Single submitter
- VPS37A p.Thr8Pro Uncertain significance Single submitter
-
VPS37A p.Thr99Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Tyr141His
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Tyr150Phe Uncertain significance Single submitter
- VPS37A p.Val179Ala Uncertain significance Single submitter
-
VPS37A p.Val209Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Val251Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Val273Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Val96Met Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
-
VPS37A p.Ala44Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Asp268Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Glu302Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Pro228Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Ser142Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 53
-
VPS37A p.Asn105Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Asp229Tyr
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Asp49Asn Uncertain significance Single submitter
- VPS37A p.Cys375Arg Uncertain significance Single submitter
-
VPS37A p.Gln72Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Glu278Lys Uncertain significance Single submitter
- VPS37A p.Leu25Phe Uncertain significance Single submitter
- VPS37A p.Lys114Gln Uncertain significance Single submitter
-
VPS37A p.Lys300Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
-
VPS37A p.Pro55Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 53
- VPS37A p.Ser364Arg Uncertain significance Single submitter
All VPS37A variants
Pathogenic 1
- p.Lys382Asn No assertion criteria hereditary spastic paraplegia 53
Conflicting classifications of pathogenicity 4
- c.642+10G>A Single submitter hereditary spastic paraplegia 53
- p.Ala386Val Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ile33= Single submitter hereditary spastic paraplegia 53
- p.Leu234Ile Single submitter hereditary spastic paraplegia 53 ⚠
Benign 27
- c.1114-26G>C Multiple submitters hereditary spastic paraplegia 53
- c.125+8G>A Multiple submitters hereditary spastic paraplegia 53
- c.315+76G>C Multiple submitters
- c.316-17T>C Multiple submitters hereditary spastic paraplegia 53
- c.643-179C>G Multiple submitters
- c.714-124G>A Multiple submitters
- c.714-73A>G Multiple submitters
- c.841+23G>A Multiple submitters hereditary spastic paraplegia 53
- c.-566G>A Multiple submitters
- c.*1194+84C>A Multiple submitters
- p.Asp351= Multiple submitters hereditary spastic paraplegia 53
- p.Ile206Phe Multiple submitters hereditary spastic paraplegia 53
- p.Leu68= Multiple submitters hereditary spastic paraplegia 53
- c.1113+214T>C Single submitter
- c.200+257A>T Single submitter
- c.200+275A>T Single submitter
- c.201-120G>A Single submitter
- c.201-189T>C Single submitter
- c.316-143A>G Single submitter
- c.417-17_417-15del Single submitter hereditary spastic paraplegia 53
- c.417-339A>G Single submitter
- c.643-200del Single submitter
- c.643-251A>G Single submitter
- c.643-291A>G Single submitter
- c.970-1604A>G Single submitter hereditary spastic paraplegia 53
- c.970-250A>C Single submitter
- c.970-256G>A Single submitter
Benign/Likely benign 6
- c.315+14A>C Multiple submitters hereditary spastic paraplegia 53
- c.-19G>A Multiple submitters
- p.Gln392= Multiple submitters hereditary spastic paraplegia 53
- p.Glu278= Multiple submitters hereditary spastic paraplegia 53
- p.Ile213Val Multiple submitters hereditary spastic paraplegia
- p.Thr8= Multiple submitters hereditary spastic paraplegia
Likely benign 81
- c.1113+151T>C Multiple submitters
- c.1114-186T>C Multiple submitters
- c.416+17T>C Multiple submitters hereditary spastic paraplegia 53
- c.642+141A>G Multiple submitters
- c.643-50C>T Multiple submitters
- c.714-276G>C Multiple submitters
- p.Gln306= Multiple submitters hereditary spastic paraplegia 53
- c.1113+13C>T Single submitter hereditary spastic paraplegia 53
- c.1113+191C>G Single submitter
- c.1114-18C>T Single submitter hereditary spastic paraplegia 53
- c.1114-5T>C Single submitter hereditary spastic paraplegia 53
- c.125+11_125+15del Single submitter hereditary spastic paraplegia 53
- c.125+11G>T Single submitter
- c.125+15C>T Single submitter hereditary spastic paraplegia 53
- c.125+16C>T Single submitter hereditary spastic paraplegia 53
- c.125+41T>G Single submitter
- c.125+45A>G Single submitter
- c.125+49C>G Single submitter
- c.126-14A>C Single submitter hereditary spastic paraplegia 53
- c.126-16A>C Single submitter hereditary spastic paraplegia 53
- c.200+15A>G Single submitter hereditary spastic paraplegia 53
- c.201-10C>T Single submitter hereditary spastic paraplegia 53
- c.201-57A>G Single submitter
- c.201-6T>C Single submitter
- c.315+11G>A Single submitter hereditary spastic paraplegia 53
- c.316-19C>T Single submitter hereditary spastic paraplegia 53
- c.416+11T>G Single submitter hereditary spastic paraplegia 53
- c.416+19A>G Single submitter
- c.417-20T>C Single submitter hereditary spastic paraplegia 53
- c.417-8C>T Single submitter hereditary spastic paraplegia 53
- c.417-9T>C Single submitter hereditary spastic paraplegia 53
- c.642+11T>C Single submitter hereditary spastic paraplegia 53
- c.642+19C>G Single submitter hereditary spastic paraplegia 53
- c.642+9C>T Single submitter hereditary spastic paraplegia 53
- c.643-11C>T Single submitter hereditary spastic paraplegia 53
- c.643-19A>C Single submitter hereditary spastic paraplegia 53
- c.713+11A>G Single submitter hereditary spastic paraplegia 53
- c.714-216_714-215del Single submitter
- c.714-61T>C Single submitter
- c.841+12C>T Single submitter hereditary spastic paraplegia 53
- c.841+16C>T Single submitter hereditary spastic paraplegia 53
- c.841+19G>T Single submitter hereditary spastic paraplegia 53
- c.901-18T>C Single submitter hereditary spastic paraplegia 53
- c.901-9C>G Single submitter hereditary spastic paraplegia 53
- c.969+13A>G Single submitter hereditary spastic paraplegia 53
- c.969+187A>G Single submitter
- c.969+236C>T Single submitter
- c.969+7C>G Single submitter
- c.-13G>A Single submitter
- c.-31C>T Single submitter
- p.Ala192= Single submitter hereditary spastic paraplegia 53
- p.Ala386= Single submitter hereditary spastic paraplegia 53
- p.Arg294= Single submitter hereditary spastic paraplegia 53
- p.Arg53= Single submitter hereditary spastic paraplegia 53
- p.Arg87= Single submitter hereditary spastic paraplegia 53
- p.Asp210= Single submitter hereditary spastic paraplegia 53
- p.Cys325= Single submitter hereditary spastic paraplegia 53
- p.Glu233= Single submitter hereditary spastic paraplegia 53
- p.Glu312= Single submitter hereditary spastic paraplegia 53
- p.Gly146= Single submitter hereditary spastic paraplegia 53
- p.His40= Single submitter
- p.Ile58Val Single submitter
- p.Leu140= Single submitter hereditary spastic paraplegia 53
- p.Leu202= Single submitter hereditary spastic paraplegia 53
- p.Leu234= Single submitter hereditary spastic paraplegia 53
- p.Leu25= Single submitter hereditary spastic paraplegia 53
- p.Leu259= Single submitter hereditary spastic paraplegia 53
- p.Leu284= Single submitter hereditary spastic paraplegia 53
- p.Leu304= Single submitter hereditary spastic paraplegia 53
- p.Leu54= Single submitter hereditary spastic paraplegia 53
- p.Phe220= Single submitter hereditary spastic paraplegia 53
- p.Pro101= Single submitter hereditary spastic paraplegia 53
- p.Pro149Leu Single submitter hereditary spastic paraplegia 53
- p.Ser200= Single submitter hereditary spastic paraplegia 53
- p.Ser24= Single submitter hereditary spastic paraplegia 53
- p.Ter398Gln Single submitter hereditary spastic paraplegia 53
- p.Thr171= Single submitter
- p.Thr267= Single submitter hereditary spastic paraplegia 53
- p.Thr305= Single submitter hereditary spastic paraplegia 53
- p.Thr99= Single submitter hereditary spastic paraplegia 53
- p.Ile58= No assertion criteria VPS37A-related disorder
Uncertain significance 130
- p.Ala176Ser Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Ala193Thr Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Ala388Ser Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Ala44Asp Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Asp268Asn Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Asp271Gly Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Gln385Pro Multiple submitters ⚠
- p.Glu249Lys Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Glu302Lys Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.His186Asn Multiple submitters hereditary spastic paraplegia ⚠
- p.Ile276Thr Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Ile63Val Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Leu119Val Multiple submitters ⚠
- p.Leu298Ile Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Leu330Arg Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Lys263Gln Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Lys274Arg Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Met389Val Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Pro144Thr Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Pro160Ala Multiple submitters ⚠
- p.Pro214Leu Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Pro228Ala Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Ser142Cys Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Ser142Gly Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Ser145Asn Multiple submitters ⚠
- p.Ser216Arg Multiple submitters hereditary spastic paraplegia 53 ⚠
- p.Thr133Ser Multiple submitters hereditary spastic paraplegia ⚠
- p.Thr310Ala Multiple submitters hereditary spastic paraplegia ⚠
- c.1113+1G>A Single submitter
- c.126-1G>C Single submitter hereditary spastic paraplegia 53
- c.315+4T>G Single submitter hereditary spastic paraplegia 53
- c.416+3A>G Single submitter hereditary spastic paraplegia 53
- c.417-2A>G Single submitter hereditary spastic paraplegia 53
- c.642+7A>G Single submitter hereditary spastic paraplegia 53
- c.969+6A>G Single submitter hereditary spastic paraplegia 53
- p.Ala11Gly Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ala11Ser Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ala136Thr Single submitter ⚠
- p.Ala151Ser Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ala176Thr Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ala193Ser Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ala292Ser Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ala292Thr Single submitter ⚠
- p.Ala329Val Single submitter ⚠
- p.Arg317Thr Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asn105Lys Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asn246Ile Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asn246Lys Single submitter ⚠
- p.Asn347del Single submitter
- p.Asp121Ala Single submitter ⚠
- p.Asp121Asn Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asp210Asn Single submitter ⚠
- p.Asp210Gly Single submitter ⚠
- p.Asp226His Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asp229Tyr Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asp268Glu Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asp351Glu Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asp361Asn Single submitter hereditary spastic paraplegia 53 ⚠
- p.Asp49Asn Single submitter ⚠
- p.Cys375Arg Single submitter ⚠
- p.Gln117Arg Single submitter hereditary spastic paraplegia 53 ⚠
- p.Gln264Arg Single submitter hereditary spastic paraplegia 53 ⚠
- p.Gln26Pro Single submitter ⚠
- p.Gln72Arg Single submitter hereditary spastic paraplegia 53 ⚠
- p.Gln72Glu Single submitter ⚠
- p.Gln72Leu Single submitter hereditary spastic paraplegia 53 ⚠
- p.Glu278Lys Single submitter ⚠
- p.Gly219Asp Single submitter hereditary spastic paraplegia 53 ⚠
- p.Gly21Ser Single submitter ⚠
- p.His319Asn Single submitter ⚠
- p.His390Tyr Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ile266Val Single submitter ⚠
- p.Ile359Thr Single submitter ⚠
- p.Ile372Thr Single submitter ⚠
- p.Ile387Leu Single submitter ⚠
- p.Ile86Met Single submitter hereditary spastic paraplegia 53 ⚠
- p.Leu259Phe Single submitter ⚠
- p.Leu25Phe Single submitter ⚠
- p.Leu285Val Single submitter hereditary spastic paraplegia ⚠
- p.Leu303Phe Single submitter ⚠
- p.Leu32= Single submitter hereditary spastic paraplegia
- p.Leu397= Single submitter hereditary spastic paraplegia 53
- p.Lys114Gln Single submitter ⚠
- p.Lys223Gln Single submitter ⚠
- p.Lys300Gln Single submitter hereditary spastic paraplegia 53 ⚠
- p.Lys314Glu Single submitter ⚠
- p.Lys382Thr Single submitter hereditary spastic paraplegia 53 ⚠
- p.Met108Val Single submitter hereditary spastic paraplegia 53 ⚠
- p.Met224Leu Single submitter ⚠
- p.Met245Ile Single submitter hereditary spastic paraplegia 53
- p.Met389Leu Single submitter hereditary spastic paraplegia 53 ⚠
- p.Phe311Tyr Single submitter
- p.Pro138Ser Single submitter ⚠
- p.Pro149Thr Single submitter ⚠
- p.Pro191Ala Single submitter hereditary spastic paraplegia 53 ⚠
- p.Pro214= Single submitter hereditary spastic paraplegia 53
- p.Pro260Ser Single submitter ⚠
- p.Pro55Thr Single submitter hereditary spastic paraplegia 53 ⚠
- p.Pro6Ser Single submitter hereditary spastic paraplegia 53
- p.Ser180Cys Single submitter hereditary spastic paraplegia ⚠
- p.Ser18Phe Single submitter ⚠
- p.Ser240Thr Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ser289Arg Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ser289Asn Single submitter hereditary spastic paraplegia 53 ⚠
- p.Ser322Asn Single submitter ⚠
- p.Ser364Arg Single submitter ⚠
- p.Ser364Asn Single submitter ⚠
- p.Ser365Asn Single submitter ⚠
- p.Thr135Ile Single submitter hereditary spastic paraplegia 53 ⚠
- p.Thr171Ile Single submitter hereditary spastic paraplegia 53 ⚠
- p.Thr171Ser Single submitter hereditary spastic paraplegia 53 ⚠
- p.Thr178Pro Single submitter hereditary spastic paraplegia 53 ⚠
- p.Thr178Ser Single submitter hereditary spastic paraplegia 53 ⚠
- p.Thr184Ala Single submitter ⚠
- p.Thr184del Single submitter hereditary spastic paraplegia 53
- p.Thr187Ala Single submitter ⚠
- p.Thr187Ile Single submitter hereditary spastic paraplegia 53 ⚠
- p.Thr208Ile Single submitter hereditary spastic paraplegia 53 ⚠
- p.Thr215Arg Single submitter hereditary spastic paraplegia 53 ⚠
- p.Thr310Ile Single submitter hereditary spastic paraplegia ⚠
- p.Thr57Ser Single submitter ⚠
- p.Thr8Pro Single submitter ⚠
- p.Thr99Asn Single submitter hereditary spastic paraplegia 53 ⚠
- p.Tyr141His Single submitter hereditary spastic paraplegia 53 ⚠
- p.Tyr150Phe Single submitter ⚠
- p.Val179Ala Single submitter ⚠
- p.Val209Met Single submitter hereditary spastic paraplegia 53 ⚠
- p.Val251Ile Single submitter hereditary spastic paraplegia 53 ⚠
- p.Val273Ile Single submitter hereditary spastic paraplegia 53 ⚠
- p.Val96Met Single submitter ⚠