SPAST — 1433 ClinVar variants

All ClinVar germline SPAST variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 423 flagged for review →

377 Pathogenic · 68 Pathogenic/Likely pathogenic · 142 Likely pathogenic · 87 Conflicting · 55 Benign · 20 Benign/Likely benign · 228 Likely benign · 456 Uncertain significance

Full SPAST gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 423

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 7

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

SPAST p.Glu512Asp Pathogenic/Likely pathogenic Multiple submitters
hereditary spastic paraplegia
SPAST p.Ile406Val Pathogenic Multiple submitters
SPAST-related disorder
SPAST p.Ile580Val Likely pathogenic Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Lys290Asn Pathogenic Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Met572Val Likely pathogenic Single submitter
SPAST p.Pro19Ala Likely pathogenic Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser362Cys Pathogenic No assertion criteria
hereditary spastic paraplegia 4

Predictors agree, ClinVar conflicts 54

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

SPAST p.Ala350Val Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala392Pro Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala495Ser Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala556Pro Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg221His Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg372Ser Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg424Thr Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg460His Conflicting Single submitter
hereditary spastic paraplegia
SPAST p.Arg498Lys Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg503Gln Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg581Pro Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn386Lys Conflicting Single submitter
SPAST-related disorder
SPAST p.Asp444Gly Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp493Ala Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp493His Conflicting Single submitter
hereditary spastic paraplegia
SPAST p.Glu418Lys Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Glu43Asp Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Glu43Gln Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Glu464Lys Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly37Arg Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly484Arg Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly60Asp Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.His241Arg Conflicting Single submitter
Inborn genetic diseases
SPAST p.His455Tyr Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.His46Arg Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ile163Thr Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ile344Met Conflicting Single submitter
Inborn genetic diseases
SPAST p.Ile501Leu Conflicting Single submitter
SPAST p.Leu447Ser Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Leu466Val Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Leu517Ser Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Leu518Pro Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Lys290Arg Conflicting Single submitter
SPAST-related disorder
SPAST p.Met253Thr Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Phe53Val Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Pro238Thr Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Pro25Ala Conflicting Single submitter
Inborn genetic diseases
SPAST p.Pro293Leu Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Pro33Ala Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Pro45Gln Conflicting Single submitter
hereditary spastic paraplegia
SPAST p.Pro509Leu Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser101Leu Conflicting Single submitter
Inborn genetic diseases
SPAST p.Ser103Pro Conflicting Single submitter
Inborn genetic diseases
SPAST p.Ser13Thr Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser436Phe Conflicting Single submitter
SPAST-related disorder
SPAST p.Ser588Phe Conflicting Single submitter
SPAST-related disorder
SPAST p.Ser588Pro Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser595Arg Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser595Asn Conflicting Single submitter
Spastic paraplegia
SPAST p.Ser595Gly Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Thr209Met Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Thr369Pro Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Thr550Ile Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Val278Met Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 3

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.

SPAST c.1322-30_1322-2del Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST c.1535_1536+1del Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST c.1728+1G>A Conflicting Single submitter
hereditary spastic paraplegia 4

Predictors lean, ClinVar uncertain 284

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 284

SPAST p.Ala104Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Ala394Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Ala39Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Ala603Val Uncertain significance Multiple submitters
Spastic paraplegia
SPAST p.Arg84Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Asn222Asp Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Asp456Asn Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Asp548Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Cys220Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Cys523Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Cys523Tyr Uncertain significance Multiple submitters
SPAST p.Gln141Glu Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Glu366Lys Uncertain significance Multiple submitters
hereditary spastic paraplegia
SPAST p.Glu602Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Gly140Glu Uncertain significance Multiple submitters
SPAST p.Gly277Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Gly291Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Gly385Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.His46Gln Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.His70Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Ile605Val Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Leu78Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Leu86Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Lys312Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Met483Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Phe124Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Pro107Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Pro109Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Pro19Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Pro27Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Pro33Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Pro34Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Pro38Arg Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Pro38Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Ser215Asn Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Ser227Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Ser282Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Ser410Ile Uncertain significance Multiple submitters
SPAST-related disorder
SPAST p.Ser54Cys Uncertain significance Multiple submitters
SPAST-related disorder
SPAST p.Ser93Pro Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Thr165Ala Uncertain significance Multiple submitters
Spastic paraplegia
SPAST p.Thr216Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Thr288Ile Uncertain significance Multiple submitters
hereditary spastic paraplegia
SPAST p.Thr306Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Tyr51Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Val201Ile Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Val278Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Val416Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Val443Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia
SPAST p.Val482Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Val496Ile Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Ala104Thr Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Ala106Val Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala161Ser Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Ala16Thr Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Ala179Asp Uncertain significance Single submitter
hereditary ataxia
SPAST p.Ala219Thr Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala266Thr Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala32Pro Uncertain significance Single submitter
SPAST p.Ala345Gly Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Ala345Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala350Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala350Thr Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala36Gly Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Ala373Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala396Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala39Thr Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala425Gly Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala430Pro Uncertain significance Single submitter
SPAST p.Ala485Gly Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala485Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala538Asp Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala551Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala574Val Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala85Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala88Glu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala88Val Uncertain significance Single submitter
SPAST p.Ala95Val Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ala98Val Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg173Lys Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Arg176Cys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg176Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg191His Uncertain significance Single submitter
SPAST p.Arg221Leu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg23Gly Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg248His Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg265Gly Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Arg309Cys Uncertain significance Single submitter
SPAST p.Arg318Lys Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Arg372Ile Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg431Gln Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg431Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg451Gly Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg488Trp Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg499Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg503Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn18Lys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn213Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn217Lys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn222Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn222Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn323Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn335His Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn487Lys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn608Lys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp136Glu Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Asp214Glu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp214Tyr Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Asp237Val Uncertain significance Single submitter
SPAST p.Asp334Glu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp444Glu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp470Ala Uncertain significance Single submitter
SPAST p.Asp470His Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp478Val Uncertain significance Single submitter
hereditary spastic paraplegia
SPAST p.Asp555Ala Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp555His Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp555Val Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Cys171Tyr Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Cys220Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Cys28Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gln208Lys Uncertain significance Single submitter
SPAST p.Gln280Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gln568Pro Uncertain significance Single submitter
SPAST p.Glu112Ala Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Glu114Ala Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Glu154Lys Uncertain significance Single submitter
SPAST p.Glu331Lys Uncertain significance Single submitter
SPAST p.Glu366Val Uncertain significance Single submitter
SPAST p.Glu398Lys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Glu567Lys Uncertain significance Single submitter
Spastic paraplegia
SPAST p.Glu576Asp Uncertain significance Single submitter
SPAST p.Gly111Ala Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Gly111Cys Uncertain significance Single submitter
SPAST p.Gly12Ser Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Gly14Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly159Ala Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly15Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly271Ser Uncertain significance Single submitter
SPAST p.Gly291Val Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly370Trp Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly377Arg Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly37Trp Uncertain significance Single submitter
Spastic paraplegia
SPAST p.Gly382Ala Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly382Cys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly382Val Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly419Arg Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly419Val Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly471Cys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly471Val Uncertain significance Single submitter
SPAST p.Gly543Val Uncertain significance Single submitter

Predictors split 75

The independent predictors disagree with each other — read with care.

SPAST p.Ala409Thr Pathogenic/Likely pathogenic Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Arg248Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Arg606Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Asn386Ser Pathogenic Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Cys448Tyr Pathogenic Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Gln473Lys Likely benign Multiple submitters
Inborn genetic diseases
SPAST p.Gly140Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Gly346Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Gly559Arg Pathogenic/Likely pathogenic Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Leu378Val Likely pathogenic Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Met390Ile Pathogenic/Likely pathogenic Multiple submitters
hereditary spastic paraplegia 4
SPAST p.Met390Val Pathogenic Multiple submitters
Inborn genetic diseases
SPAST p.Pro56Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia
SPAST p.Ser322Arg Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Val416Met Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Val596Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SPAST p.Ala408Val Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg115Cys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg175Gly Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg248Pro Uncertain significance Single submitter
SPAST p.Arg459Lys Likely pathogenic Single submitter
SPAST p.Arg514Lys Uncertain significance Single submitter
SPAST p.Arg594Cys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg594His Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Arg606His Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg65Cys Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Arg65His Uncertain significance Single submitter
SPAST p.Arg7Leu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Arg7Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asn386Asp Pathogenic Single submitter
SPAST p.Asn579His Conflicting Single submitter
spastic ataxia
SPAST p.Asp342Gly Uncertain significance Single submitter
SPAST p.Asp542Asn Uncertain significance Single submitter
SPAST p.Asp542Gly Conflicting Single submitter
Spastic diplegia
SPAST p.Asp542His Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Asp613Gly Likely pathogenic Single submitter
hereditary spastic paraplegia 4
SPAST p.Cys171Arg Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gln599Pro Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly6Glu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Gly8Glu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.His455Arg Likely pathogenic Single submitter
hereditary spastic paraplegia 4
SPAST p.His455Asp Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ile359Thr Likely pathogenic Single submitter
hereditary spastic paraplegia
SPAST p.Leu360Phe Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Leu534Ile Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Leu552Val Uncertain significance Single submitter
SPAST p.Leu582Ser Uncertain significance Single submitter
SPAST p.Lys10Asn Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Met329Thr Uncertain significance Single submitter
Inborn genetic diseases
SPAST p.Met390Lys Pathogenic Single submitter
hereditary spastic paraplegia 4
SPAST p.Met390Thr Likely pathogenic Single submitter
SPAST p.Met572Thr Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Met577Arg Conflicting Single submitter
hereditary spastic paraplegia 4
SPAST p.Met577Thr Likely pathogenic Single submitter
SPAST p.Phe124Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Phe317Ser Uncertain significance Single submitter
Spastic paraplegia
SPAST p.Phe500Cys Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Phe500Leu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Phe53Leu Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Phe61Leu Uncertain significance Single submitter
SPAST p.Pro247Arg Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Pro304Arg Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser128Ala Uncertain significance Single submitter
SPAST p.Ser270Arg Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser273Cys Uncertain significance Single submitter
Spastic paraplegia
SPAST p.Ser273Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser302Phe Uncertain significance Single submitter
SPAST p.Ser362Phe Pathogenic Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser445Asn Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Ser445Thr Likely pathogenic Single submitter
SPAST p.Thr513Ser Uncertain significance Single submitter
hereditary spastic paraplegia 4
SPAST p.Thr615Ile Pathogenic Single submitter
hereditary spastic paraplegia 4
SPAST p.Tyr52Cys Uncertain significance Single submitter
SPAST p.Val496Gly Uncertain significance Single submitter
SPAST p.Val496Leu Uncertain significance Single submitter
hereditary spastic paraplegia 4

All SPAST variants

Pathogenic 377

Showing the top 300 by review status; the full set is in the sitemap.

c.1004+1G>T Multiple submitters hereditary spastic paraplegia 4
c.1004+2T>G Multiple submitters hereditary spastic paraplegia 4
c.1098+1G>A Multiple submitters hereditary spastic paraplegia 4
c.1099-1G>A Multiple submitters hereditary spastic paraplegia 4
c.1174-1del Multiple submitters hereditary spastic paraplegia 4
c.1174-1G>A Multiple submitters hereditary spastic paraplegia 4
c.1174-1G>C Multiple submitters hereditary spastic paraplegia 4
c.1245+1G>A Multiple submitters SPAST-related spastic paraplegia
c.1245+1G>T Multiple submitters SPAST-related disorder
c.1322-1G>A Multiple submitters hereditary spastic paraplegia 4
c.1322-1G>T Multiple submitters hereditary spastic paraplegia 4
c.1413+1G>A Multiple submitters Tip-toe gait
c.1413+1G>T Multiple submitters hereditary spastic paraplegia 4
c.1413+2dup Multiple submitters hereditary spastic paraplegia 4
c.1414-1G>C Multiple submitters hereditary spastic paraplegia 4
c.1414-2A>G Multiple submitters hereditary spastic paraplegia 4
c.1493+1G>A Multiple submitters hereditary spastic paraplegia 4
c.1493+1G>T Multiple submitters hereditary spastic paraplegia 4
c.1493+2T>A Multiple submitters hereditary spastic paraplegia 4
c.1494-1G>C Multiple submitters hereditary spastic paraplegia 4
c.1494-2A>C Multiple submitters hereditary spastic paraplegia 4
c.1494-2A>T Multiple submitters hereditary spastic paraplegia 4
c.1536+2T>C Multiple submitters hereditary spastic paraplegia 4
c.1537-1G>A Multiple submitters hereditary spastic paraplegia 4
c.1537-2A>C Multiple submitters hereditary spastic paraplegia 4
c.1617-2A>G Multiple submitters hereditary spastic paraplegia 4
c.1687+2T>A Multiple submitters hereditary spastic paraplegia 4
c.1688-2A>G Multiple submitters hereditary spastic paraplegia 4
c.(?_1729 Multiple submitters hereditary spastic paraplegia 4
c.1729-1G>A Multiple submitters hereditary spastic paraplegia 4
c.415+1G>A Multiple submitters hereditary spastic paraplegia 4
c.415+1G>C Multiple submitters hereditary spastic paraplegia 4
c.415+1G>T Multiple submitters hereditary spastic paraplegia 4
c.870+1G>A Multiple submitters Spastic paraplegia
c.870+1G>T Multiple submitters SPAST-related disorder
c.870+3A>G Multiple submitters hereditary spastic paraplegia 4
p.Ala188fs Multiple submitters hereditary spastic paraplegia
p.Ala394fs Multiple submitters hereditary spastic paraplegia 4
p.Ala96fs Multiple submitters hereditary spastic paraplegia 4
p.Arg431Ter Multiple submitters SPAST-related disorder
p.Arg460Cys Multiple submitters SPAST-related disorder
p.Arg514Gly Multiple submitters hereditary spastic paraplegia 4
p.Arg562Ter Multiple submitters SPAST-related disorder
p.Arg581Ter Multiple submitters hereditary spastic paraplegia 4
p.Asn386Ser Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Asp313fs Multiple submitters hereditary spastic paraplegia 4
p.Asp441Gly Multiple submitters hereditary spastic paraplegia 4
p.Cys448Tyr Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Gln122Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln144Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln170Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln193Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln280fs Multiple submitters hereditary spastic paraplegia 4
p.Gln280Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln347Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln355Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln473Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln490Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln525Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln531Ter Multiple submitters hereditary spastic paraplegia 4
p.Gln80Ter Multiple submitters hereditary spastic paraplegia 4
p.Glu114Ter Multiple submitters hereditary spastic paraplegia 4
p.Glu155fs Multiple submitters hereditary spastic paraplegia 4
p.Glu418del Multiple submitters hereditary spastic paraplegia 4
p.Glu418Gly Multiple submitters hereditary spastic paraplegia 4
p.Glu454fs Multiple submitters hereditary spastic paraplegia 4
p.Glu454Lys Multiple submitters hereditary spastic paraplegia 4
p.Glu464Ter Multiple submitters hereditary spastic paraplegia 4
p.Gly281Ter Multiple submitters
p.Gly417Glu Multiple submitters hereditary spastic paraplegia 4
p.Gly417Val Multiple submitters hereditary spastic paraplegia 4
p.Gly471Asp Multiple submitters hereditary spastic paraplegia 4
p.His455fs Multiple submitters hereditary spastic paraplegia 4
p.Ile406Val Multiple submitters SPAST-related disorder ⚠
p.Leu426Val Multiple submitters hereditary spastic paraplegia 4
p.Leu534fs Multiple submitters hereditary spastic paraplegia 4
p.Leu57fs Multiple submitters hereditary spastic paraplegia 4
p.Lys151fs Multiple submitters hereditary spastic paraplegia 4
p.Lys290Asn Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Lys310Ter Multiple submitters hereditary spastic paraplegia 4
p.Lys388Asn Multiple submitters hereditary spastic paraplegia 4
p.Lys414_Tyr415insTer Multiple submitters hereditary spastic paraplegia 4
p.Met253fs Multiple submitters hereditary spastic paraplegia 4
p.Met390Val Multiple submitters Inborn genetic diseases ⚠
p.Pro361Ser Multiple submitters hereditary spastic paraplegia 4
p.Pro384Leu Multiple submitters hereditary spastic paraplegia 4
p.Pro4fs Multiple submitters hereditary spastic paraplegia 4
p.Ser245Ter Multiple submitters hereditary spastic paraplegia 4
p.Ser249Ter Multiple submitters hereditary spastic paraplegia 4
p.Ser399Trp Multiple submitters hereditary spastic paraplegia 4
p.Ser527fs Multiple submitters hereditary spastic paraplegia 4
p.Thr240delinsPheGlnLysGluLysThrProTer Multiple submitters hereditary spastic paraplegia 4
p.Thr389Ala Multiple submitters hereditary spastic paraplegia 4
p.Thr486Ala Multiple submitters hereditary spastic paraplegia 4
p.Trp148Ter Multiple submitters hereditary spastic paraplegia 4
p.Tyr149Ter Multiple submitters hereditary spastic paraplegia 4
p.Tyr51Ter Multiple submitters hereditary spastic paraplegia 4
c.1004+5G>T Single submitter hereditary spastic paraplegia 4
c.1005-1G>A Single submitter hereditary spastic paraplegia 4
c.1005-1G>C Single submitter hereditary spastic paraplegia
c.1005-1G>T Single submitter hereditary spastic paraplegia 4
c.1005-2A>G Single submitter SPAST-related disorder
c.1098+1G>T Single submitter
c.1098+2T>A Single submitter hereditary spastic paraplegia 4
c.1099-1062_1246-1342del Single submitter hereditary spastic paraplegia 4
c.1099-1G>C Single submitter hereditary spastic paraplegia 4
c.1099-2A>G Single submitter hereditary spastic paraplegia 4
c.1099-4371_1245+1010del Single submitter cerebral palsy
c.1099-956_1246-1672del Single submitter hereditary spastic paraplegia 4
c.1173_1173+1insT Single submitter hereditary spastic paraplegia 4
c.1173+185_1245del Single submitter hereditary spastic paraplegia 4
c.1174-270_1246-1724dup Single submitter hereditary spastic paraplegia 4
c.1174-2A>T Single submitter hereditary spastic paraplegia 4
c.1245+1G>C Single submitter hereditary spastic paraplegia 4
c.1245+3G>C Single submitter hereditary spastic paraplegia 4
c.1246-2897_1493+523dup Single submitter hereditary spastic paraplegia 4
c.1321+1G>A Single submitter hereditary spastic paraplegia 4
c.1321+1G>T Single submitter hereditary spastic paraplegia
c.1321+2T>G Single submitter hereditary spastic paraplegia 4
c.1322-1G>C Single submitter
c.1322-2A>C Single submitter hereditary spastic paraplegia 4
c.1322-2A>G Single submitter hereditary spastic paraplegia 4
c.1413+2T>C Single submitter
c.1493+2T>C Single submitter hereditary spastic paraplegia 4
c.1494-1393_1688-466dup Single submitter hereditary spastic paraplegia 4
c.1494-16G>A Single submitter hereditary spastic paraplegia 4
c.1494-?_1728+?del Single submitter hereditary spastic paraplegia 4
c.1494-1G>A Single submitter hereditary spastic paraplegia 4
c.1494-2A>G Single submitter hereditary spastic paraplegia 4
c.1536+1G>A Single submitter hereditary spastic paraplegia 4
c.1536+1G>C Single submitter
c.1536+1G>T Single submitter
c.1537-2A>T Single submitter hereditary spastic paraplegia 4
c.1616+1G>C Single submitter hereditary spastic paraplegia 4
c.1616+1G>T Single submitter hereditary spastic paraplegia 4
c.1617-15_1624dup Single submitter hereditary spastic paraplegia 4
c.1617-1G>A Single submitter hereditary spastic paraplegia 4
c.1617-1G>T Single submitter hereditary spastic paraplegia 4
c.1617-2A>C Single submitter hereditary spastic paraplegia 4
c.1617-2A>T Single submitter hereditary spastic paraplegia 4
c.1688-1G>C Single submitter hereditary spastic paraplegia 4
c.1688-378_1728+1541del Single submitter hereditary spastic paraplegia 4
c.1728+1G>T Single submitter hereditary spastic paraplegia 4
c.1728+2T>C Single submitter hereditary spastic paraplegia 4
c.1729-2A>G Single submitter hereditary spastic paraplegia 4
c.1729-3331_*1641del Single submitter hereditary spastic paraplegia 4
c.1729-884_*1715del Single submitter hereditary spastic paraplegia 4
c.683-1277_870+399del Single submitter hereditary spastic paraplegia 4
c.683-1G>A Single submitter hereditary spastic paraplegia 4
c.683-1G>C Single submitter
c.683-2A>T Single submitter SPAST-related disorder
c.683-7033_1004+30del Single submitter hereditary spastic paraplegia 4
c.690_1099-4223del Single submitter hereditary spastic paraplegia 4
c.870+1del Single submitter hereditary spastic paraplegia 4
c.870+2T>C Single submitter hereditary spastic paraplegia 4
c.871-2A>T Single submitter
c.871-368_1098+4142del Single submitter hereditary spastic paraplegia 4
c.872del Single submitter hereditary spastic paraplegia 4
p.Ala130_Leu131insArg Single submitter hereditary spastic paraplegia
p.Ala32fs Single submitter hereditary spastic paraplegia 4
p.Ala338fs Single submitter hereditary spastic paraplegia 4
p.Ala350fs Single submitter hereditary spastic paraplegia 4
p.Ala353fs Single submitter
p.Ala373fs Single submitter hereditary spastic paraplegia 4
p.Ala394Glu Single submitter hereditary spastic paraplegia 4
p.Ala39fs Single submitter hereditary spastic paraplegia 4
p.Ala409fs Single submitter
p.Ala409Glu Single submitter hereditary spastic paraplegia 4
p.Ala409Val Single submitter hereditary spastic paraplegia 4
p.Ala425Pro Single submitter hereditary spastic paraplegia 4
p.Ala430fs Single submitter
p.Ala485fs Single submitter
p.Ala495Thr Single submitter hereditary spastic paraplegia 4
p.Ala551fs Single submitter hereditary spastic paraplegia 4
p.Ala556Val Single submitter hereditary spastic paraplegia 4
p.Ala98fs Single submitter
p.Arg173fs Single submitter
p.Arg191fs Single submitter
p.Arg235fs Single submitter SPAST-related disorder
p.Arg309fs Single submitter hereditary spastic paraplegia 4
p.Arg364fs Single submitter hereditary spastic paraplegia 4
p.Arg372fs Single submitter hereditary spastic paraplegia 4
p.Arg376fs Single submitter
p.Arg431fs Single submitter hereditary spastic paraplegia 4
p.Arg450fs Single submitter hereditary spastic paraplegia 4
p.Arg459fs Single submitter hereditary spastic paraplegia 4
p.Arg460Leu Single submitter hereditary spastic paraplegia 4
p.Arg488Gly Single submitter hereditary spastic paraplegia 4
p.Arg499fs Single submitter hereditary spastic paraplegia 4
p.Arg514fs Single submitter hereditary spastic paraplegia 4
p.Arg539Ter Single submitter hereditary spastic paraplegia 4
p.Arg562Gly Single submitter hereditary spastic paraplegia 4
p.Arg562Pro Single submitter hereditary spastic paraplegia 4
p.Arg581fs Single submitter hereditary spastic paraplegia 4
p.Arg594fs Single submitter hereditary spastic paraplegia 4
p.Arg606fs Single submitter hereditary spastic paraplegia 4
p.Arg7Ter Single submitter hereditary spastic paraplegia 4
p.Asn316fs Single submitter hereditary spastic paraplegia 4
p.Asn319Tyr Single submitter hereditary spastic paraplegia 4
p.Asn326fs Single submitter hereditary spastic paraplegia 4
p.Asn326Ter Single submitter hereditary spastic paraplegia 4
p.Asn386Asp Single submitter ⚠
p.Asn400fs Single submitter hereditary spastic paraplegia 4
p.Asn405fs Single submitter hereditary spastic paraplegia
p.Asn487fs Single submitter hereditary spastic paraplegia 4
p.Asn487Ser Single submitter hereditary spastic paraplegia 4
p.Asp444fs Single submitter hereditary spastic paraplegia 4
p.Asp470Val Single submitter hereditary spastic paraplegia 4
p.Asp610_Asp613del Single submitter hereditary spastic paraplegia 4
p.Cys448Ter Single submitter
p.Cys79Ter Single submitter hereditary spastic paraplegia 4
p.Gln141fs Single submitter hereditary spastic paraplegia 4
p.Gln141Ter Single submitter hereditary spastic paraplegia 4
p.Gln170fs Single submitter hereditary spastic paraplegia 4
p.Gln178Ter Single submitter hereditary spastic paraplegia 4
p.Gln352Ter Single submitter
p.Gln434Ter Single submitter hereditary spastic paraplegia 4
p.Gln490fs Single submitter
p.Gln568fs Single submitter hereditary spastic paraplegia 4
p.Glu137fs Single submitter hereditary spastic paraplegia 4
p.Glu143Ter Single submitter hereditary spastic paraplegia 4
p.Glu157Ter Single submitter hereditary spastic paraplegia 4
p.Glu172Ter Single submitter hereditary spastic paraplegia 4
p.Glu356Gly Single submitter hereditary spastic paraplegia 4
p.Glu356Ter Single submitter hereditary spastic paraplegia 4
p.Glu366Ter Single submitter hereditary spastic paraplegia 4
p.Glu418Ter Single submitter hereditary spastic paraplegia 4
p.Glu420Gln Single submitter hereditary spastic paraplegia 4
p.Glu420Gly Single submitter hereditary spastic paraplegia 4
p.Glu432Ter Single submitter hereditary spastic paraplegia 4
p.Glu43Ter Single submitter hereditary spastic paraplegia 4
p.Glu442del Single submitter hereditary spastic paraplegia 4
p.Glu452fs Single submitter hereditary spastic paraplegia 4
p.Glu464fs Single submitter hereditary spastic paraplegia 4
p.Glu491Gly Single submitter hereditary spastic paraplegia 4
p.Glu494Ter Single submitter hereditary spastic paraplegia 4
p.Glu533fs Single submitter hereditary spastic paraplegia 4
p.Glu567fs Single submitter
p.Gly110fs Single submitter hereditary spastic paraplegia 4
p.Gly159fs Single submitter
p.Gly166Ter Single submitter
p.Gly259_Leu260delinsVal Single submitter
p.Gly262fs Single submitter
p.Gly271fs Single submitter hereditary spastic paraplegia 4
p.Gly277fs Single submitter hereditary spastic paraplegia 4
p.Gly281fs Single submitter hereditary spastic paraplegia 4
p.Gly283fs Single submitter hereditary spastic paraplegia
p.Gly385Glu Single submitter hereditary spastic paraplegia 4
p.Gly546Glu Single submitter hereditary spastic paraplegia 4
p.Gly612fs Single submitter hereditary spastic paraplegia 4
p.Gly6Ter Single submitter hereditary spastic paraplegia 4
p.His241_Thr242insTer Single submitter hereditary spastic paraplegia 4
p.His263_His264insTer Single submitter
p.Ile153fs Single submitter
p.Ile163fs Single submitter
p.Ile328Thr Single submitter hereditary spastic paraplegia 4
p.Ile344fs Single submitter
p.Ile344Lys Single submitter hereditary spastic paraplegia 4
p.Ile357fs Single submitter hereditary spastic paraplegia 4
p.Ile438fs Single submitter
p.Ile580_Arg581delinsMetTer Single submitter hereditary spastic paraplegia 4
p.Ile592Arg Single submitter hereditary spastic paraplegia 4
p.Leu131fs Single submitter hereditary spastic paraplegia
p.Leu194fs Single submitter hereditary spastic paraplegia 4
p.Leu239fs Single submitter
p.Leu239Ter Single submitter
p.Leu260= Single submitter
p.Leu260_Ser261insTer Single submitter
p.Leu29fs Single submitter SPAST-related disorder
p.Leu378Gln Single submitter hereditary spastic paraplegia
p.Leu380fs Single submitter hereditary spastic paraplegia 4
p.Leu411fs Single submitter hereditary spastic paraplegia 4
p.Leu411Ter Single submitter hereditary spastic paraplegia 4
p.Leu426fs Single submitter
p.Leu447fs Single submitter hereditary spastic paraplegia 4
p.Leu461fs Single submitter hereditary spastic paraplegia
p.Leu461Pro Single submitter
p.Leu517fs Single submitter hereditary spastic paraplegia 4
p.Leu517Ter Single submitter
p.Leu517Trp Single submitter hereditary spastic paraplegia 4
p.Leu521fs Single submitter hereditary spastic paraplegia 4
p.Leu522fs Single submitter hereditary spastic paraplegia 4
p.Leu529Ter Single submitter
p.Leu534Pro Single submitter hereditary spastic paraplegia 4
p.Leu564fs Single submitter hereditary spastic paraplegia 4
p.Leu71fs Single submitter hereditary spastic paraplegia 4
p.Leu73fs Single submitter hereditary spastic paraplegia 4
p.Lys10fs Single submitter
p.Lys138fs Single submitter hereditary spastic paraplegia 4
p.Lys142Ter Single submitter
p.Lys250Ter Single submitter hereditary spastic paraplegia 4
p.Lys294Ter Single submitter
p.Lys315fs Single submitter hereditary spastic paraplegia 4
p.Lys351fs Single submitter
p.Lys388Arg Single submitter hereditary spastic paraplegia 4
p.Lys393fs Single submitter hereditary spastic paraplegia 4
p.Lys414= Single submitter hereditary spastic paraplegia 4
p.Lys421fs Single submitter
p.Lys462Gln Single submitter hereditary spastic paraplegia 4
p.Lys47Ter Single submitter

Pathogenic/Likely pathogenic 68

c.1004+1G>C Multiple submitters SPAST-related disorder
c.1099-2A>C Multiple submitters hereditary spastic paraplegia 4
c.1173+1G>A Multiple submitters hereditary spastic paraplegia 4
c.1245+4A>G Multiple submitters hereditary spastic paraplegia 4
c.1398_1413+1dup Multiple submitters hereditary spastic paraplegia 4
c.1413+1_1413+2del Multiple submitters hereditary spastic paraplegia 4
c.1413+3_1413+6del Multiple submitters SPAST-related disorder
c.1413+5G>A Multiple submitters SPAST-related disorder
c.1413+6T>C Multiple submitters
c.1414-2A>T Multiple submitters hereditary spastic paraplegia
c.1493+2_1493+5del Multiple submitters hereditary spastic paraplegia
c.1537-11A>G Multiple submitters hereditary spastic paraplegia 4
c.1616+1G>A Multiple submitters hereditary spastic paraplegia 4
c.1688-1G>A Multiple submitters SPAST-related disorder
c.1728+2T>G Multiple submitters SPAST-related disorder
c.871-1G>A Multiple submitters hereditary spastic paraplegia
c.871-1G>C Multiple submitters hereditary spastic paraplegia 4
p.Ala409Thr Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Ala495Val Multiple submitters hereditary spastic paraplegia 4
p.Arg450Gly Multiple submitters hereditary spastic paraplegia 4
p.Arg450Lys Multiple submitters hereditary spastic paraplegia 4
p.Arg479fs Multiple submitters hereditary spastic paraplegia 4
p.Arg498Gly Multiple submitters hereditary spastic paraplegia 4
p.Arg498Ser Multiple submitters hereditary spastic paraplegia 4
p.Arg499Cys Multiple submitters hereditary spastic paraplegia 4
p.Arg499His Multiple submitters SPAST-related disorder
p.Arg503Trp Multiple submitters hereditary spastic paraplegia
p.Arg562Gln Multiple submitters SPAST-related disorder
p.Asn319fs Multiple submitters hereditary spastic paraplegia 4
p.Asp555Gly Multiple submitters hereditary spastic paraplegia 4
p.Gln347Pro Multiple submitters hereditary spastic paraplegia 4
p.Glu112Ter Multiple submitters hereditary spastic paraplegia 4
p.Glu356Lys Multiple submitters Inborn genetic diseases
p.Glu464Ala Multiple submitters hereditary spastic paraplegia 4
p.Glu512Asp Multiple submitters hereditary spastic paraplegia ⚠
p.Gly377Glu Multiple submitters hereditary spastic paraplegia 4
p.Gly526fs Multiple submitters hereditary spastic paraplegia 4
p.Gly546Arg Multiple submitters SPAST-related disorder
p.Gly559Arg Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Gly559Asp Multiple submitters SPAST-related disorder
p.Ile328fs Multiple submitters hereditary spastic paraplegia 4
p.Ile592fs Multiple submitters SPAST-related disorder
p.Ile592Lys Multiple submitters hereditary spastic paraplegia 4
p.Leu371Arg Multiple submitters hereditary spastic paraplegia 4
p.Leu371Pro Multiple submitters hereditary spastic paraplegia 4
p.Leu426Phe Multiple submitters SPAST-related disorder
p.Lys121Ter Multiple submitters hereditary spastic paraplegia
p.Lys290= Multiple submitters hereditary spastic paraplegia 4
p.Met390Ile Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Phe368Ser Multiple submitters SPAST-related disorder
p.Phe403fs Multiple submitters SPAST-related disorder
p.Phe404del Multiple submitters hereditary spastic paraplegia 4
p.Phe404fs Multiple submitters hereditary spastic paraplegia 4
p.Pro384Arg Multiple submitters hereditary spastic paraplegia
p.Pro489Leu Multiple submitters Spastic paraparesis
p.Pro509Ser Multiple submitters hereditary spastic paraplegia 4
p.Ser101Ter Multiple submitters hereditary spastic paraplegia 4
p.Ser302fs Multiple submitters hereditary spastic paraplegia 4
p.Ser399Leu Multiple submitters SPAST-related disorder
p.Ser407Asn Multiple submitters hereditary spastic paraplegia 4
p.Ser413Ter Multiple submitters SPAST-related disorder
p.Ser545Leu Multiple submitters hereditary spastic paraplegia 4
p.Ter617Glu Multiple submitters hereditary spastic paraplegia 4
p.Thr305fs Multiple submitters
p.Thr369= Multiple submitters hereditary spastic paraplegia 4
p.Thr486Ile Multiple submitters hereditary spastic paraplegia 4
p.Thr614Ile Multiple submitters hereditary spastic paraplegia
p.Tyr55_Pro56insTer Multiple submitters hereditary spastic paraplegia 4

Likely pathogenic 142

c.1413+5G>C Multiple submitters hereditary spastic paraplegia 4
c.415+2T>G Multiple submitters hereditary spastic paraplegia 4
p.Arg498Met Multiple submitters hereditary spastic paraplegia 4
p.Asn487Asp Multiple submitters Inborn genetic diseases
p.Asp321fs Multiple submitters hereditary spastic paraplegia
p.Ile580Val Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Leu371Phe Multiple submitters SPAST-related disorder
p.Leu378Val Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Leu380Pro Multiple submitters SPAST-related disorder
c.1004+3_1004+5del Single submitter SPAST-related disorder
c.1004+5G>C Single submitter hereditary spastic paraplegia 4
c.1005-2A>C Single submitter hereditary spastic paraplegia 4
c.1246-1G>A Single submitter SPAST-related disorder
c.1246-1G>C Single submitter
c.1494-258A>G Single submitter hereditary spastic paraplegia 4
c.1536+3A>G Single submitter hereditary spastic paraplegia 4
c.1537-1G>T Single submitter
c.1537-208C>T Single submitter hereditary spastic paraplegia 4
c.1729-1G>C Single submitter Spasticity
c.503-1G>T Single submitter
c.683-1_683del Single submitter hereditary spastic paraplegia 4
p.Ala174fs Single submitter hereditary spastic paraplegia 4
p.Ala325fs Single submitter SPAST-related disorder
p.Ala408Asp Single submitter hereditary spastic paraplegia 4
p.Ala457fs Single submitter hereditary spastic paraplegia 4
p.Ala485Thr Single submitter hereditary spastic paraplegia 4
p.Ala556Thr Single submitter hereditary spastic paraplegia 4
p.Ala557Gly Single submitter Spastic paraparesis
p.Ala557Val Single submitter
p.Arg117fs Single submitter SPAST-related disorder
p.Arg132fs Single submitter hereditary spastic paraplegia 4
p.Arg364Thr Single submitter hereditary spastic paraplegia
p.Arg372Lys Single submitter
p.Arg450Ser Single submitter hereditary spastic paraplegia 4
p.Arg459Lys Single submitter ⚠
p.Arg498Thr Single submitter hereditary spastic paraplegia 4
p.Arg499Leu Single submitter hereditary spastic paraplegia 4
p.Asn386Tyr Single submitter SPAST-related disorder
p.Asn579fs Single submitter hereditary spastic paraplegia 4
p.Asn608fs Single submitter Inborn genetic diseases
p.Asp134fs Single submitter SPAST-related disorder
p.Asp237fs Single submitter SPAST-related disorder
p.Asp441His Single submitter SPAST-related disorder
p.Asp441Tyr Single submitter
p.Asp441Val Single submitter hereditary spastic paraplegia 4
p.Asp444Val Single submitter SPAST-related disorder
p.Asp493dup Single submitter
p.Asp493Tyr Single submitter hereditary spastic paraplegia 4
p.Asp548His Single submitter hereditary spastic paraplegia 4
p.Asp584His Single submitter
p.Asp613Gly Single submitter hereditary spastic paraplegia 4 ⚠
p.Cys523fs Single submitter hereditary spastic paraplegia 4
p.Gln536del Single submitter hereditary spastic paraplegia 4
p.Gln568Ter Single submitter
p.Gln599Ter Single submitter
p.Glu135Ter Single submitter
p.Glu420Ala Single submitter hereditary spastic paraplegia 4
p.Glu420Asp Single submitter hereditary spastic paraplegia 4
p.Glu442Lys Single submitter hereditary spastic paraplegia 4
p.Glu442Val Single submitter hereditary spastic paraplegia 4
p.Glu449Ter Single submitter hereditary spastic paraplegia
p.Glu454Gly Single submitter hereditary spastic paraplegia
p.Glu464Gly Single submitter
p.Glu468fs Single submitter
p.Glu533Ter Single submitter SPAST-related disorder
p.Glu563_Leu564insThrLysThr Single submitter hereditary spastic paraplegia
p.Glu576_Met577insTer Single submitter hereditary spastic paraplegia 4
p.Gly152fs Single submitter hereditary spastic paraplegia 4
p.Gly346Arg Single submitter
p.Gly346Val Single submitter hereditary spastic paraplegia 4
p.Gly385Trp Single submitter
p.Gly387Arg Single submitter hereditary spastic paraplegia 4
p.Gly387Val Single submitter hereditary spastic paraplegia 4
p.Gly417Ala Single submitter
p.Gly471Ser Single submitter
p.Gly484Asp Single submitter hereditary spastic paraplegia 4
p.Gly546Val Single submitter hereditary spastic paraplegia 4
p.His120fs Single submitter hereditary spastic paraplegia
p.His241fs Single submitter
p.His289fs Single submitter
p.His455Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Ile133fs Single submitter SPAST-related disorder
p.Ile344Arg Single submitter hereditary spastic paraplegia 4
p.Ile359Thr Single submitter hereditary spastic paraplegia ⚠
p.Ile406fs Single submitter
p.Ile561fs Single submitter SPAST-related disorder
p.Ile605fs Single submitter hereditary spastic paraplegia 4
p.Leu363_Arg364insTer Single submitter
p.Leu371Val Single submitter
p.Leu422Ter Single submitter hereditary spastic paraplegia 4
p.Leu481_Val482del Single submitter hereditary spastic paraplegia 4
p.Leu492Phe Single submitter
p.Leu517Phe Single submitter hereditary spastic paraplegia 4
p.Leu521Pro Single submitter hereditary spastic paraplegia 4
p.Leu549Gln Single submitter hereditary spastic paraplegia 4
p.Leu549Pro Single submitter hereditary spastic paraplegia 4
p.Leu63fs Single submitter hereditary spastic paraplegia 4
p.Lys121fs Single submitter
p.Lys142fs Single submitter hereditary spastic paraplegia 4
p.Lys300fs Single submitter
p.Lys315Ter Single submitter
p.Lys414fs Single submitter
p.Lys421Glu Single submitter hereditary spastic paraplegia 4
p.Lys462Asn Single submitter
p.Lys570Asn Single submitter
p.Met274fs Single submitter hereditary spastic paraplegia 4
p.Met390Thr Single submitter ⚠
p.Met572Val Single submitter ⚠
p.Met577Thr Single submitter ⚠
p.Phe381Leu Single submitter hereditary spastic paraplegia 4
p.Phe403Leu Single submitter hereditary spastic paraplegia
p.Phe585Ser Single submitter hereditary spastic paraplegia 4
p.Pro105fs Single submitter hereditary spastic paraplegia 4
p.Pro19Ala Single submitter hereditary spastic paraplegia 4 ⚠
p.Pro361Ala Single submitter SPAST-related disorder
p.Pro361fs Single submitter hereditary spastic paraplegia
p.Pro365Arg Single submitter
p.Pro374fs Single submitter hereditary spastic paraplegia
p.Pro383Gln Single submitter
p.Pro383Leu Single submitter SPAST-related disorder
p.Pro435Ser Single submitter
p.Pro435Thr Single submitter hereditary spastic paraplegia 2
p.Pro509_Asn510del Single submitter hereditary spastic paraplegia 4
p.Ser399Ter Single submitter hereditary spastic paraplegia 4
p.Ser407Ile Single submitter SPAST-related disorder
p.Ser445Thr Single submitter ⚠
p.Ser458Arg Single submitter hereditary spastic paraplegia 4
p.Ser545Ter Single submitter Inborn genetic diseases
p.Ser597fs Single submitter SPAST-related disorder
p.Thr412Ile Single submitter
p.Trp148fs Single submitter hereditary spastic paraplegia 4
p.Trp77Ter Single submitter SPAST-related disorder
p.Tyr505fs Single submitter hereditary spastic paraplegia 4
p.Val146fs Single submitter hereditary spastic paraplegia 4
p.Val252fs Single submitter hereditary spastic paraplegia 4
p.Val358Phe Single submitter
p.Val423Gly Single submitter SPAST-related spastic paraplegia
c.1005-1del No assertion criteria hereditary spastic paraplegia 4
p.Ala538fs No assertion criteria SPAST-related disorder
p.Arg364Met No assertion criteria hereditary spastic paraplegia 4
p.Arg424Ser No assertion criteria Spastic paraplegia
p.Thr303fs No assertion criteria hereditary spastic paraplegia 4

Conflicting classifications of pathogenicity 87

c.1004+3_1004+6del Single submitter hereditary spastic paraplegia 4
c.1245+5G>A Single submitter hereditary spastic paraplegia 4
c.1245+6T>G Single submitter hereditary spastic paraplegia 4
c.1322-30_1322-2del Single submitter hereditary spastic paraplegia 4 ⚠
c.1494-5T>G Single submitter hereditary spastic paraplegia 4
c.1535_1536+1del Single submitter hereditary spastic paraplegia 4 ⚠
c.1536+5G>T Single submitter SPAST-related disorder
c.1616+5G>A Single submitter hereditary spastic paraplegia 4
c.1617-3C>T Single submitter hereditary spastic paraplegia
c.1728+1G>A Single submitter hereditary spastic paraplegia 4 ⚠
c.416-11T>C Single submitter hereditary spastic paraplegia 4
c.586+9_586+12del Single submitter hereditary spastic paraplegia 4
c.-7G>A Single submitter hereditary spastic paraplegia
c.*1376A>G Single submitter hereditary spastic paraplegia 4
c.*1476A>G Single submitter hereditary spastic paraplegia 4
c.*2898C>T Single submitter hereditary spastic paraplegia 4
c.*98A>G Single submitter hereditary spastic paraplegia 4
p.Ala350Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala392Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala408Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala495Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala556Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala85= Single submitter hereditary spastic paraplegia 4
p.Arg173= Single submitter hereditary spastic paraplegia 4
p.Arg221His Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg372Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg424Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg460His Single submitter hereditary spastic paraplegia ⚠
p.Arg498Lys Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg503Gln Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg581Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg606His Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg7= Single submitter hereditary spastic paraplegia 4
p.Asn386Lys Single submitter SPAST-related disorder ⚠
p.Asn579His Single submitter spastic ataxia ⚠
p.Asp444Gly Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp493Ala Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp493His Single submitter hereditary spastic paraplegia ⚠
p.Asp542Gly Single submitter Spastic diplegia ⚠
p.Glu147= Single submitter hereditary spastic paraplegia 4
p.Glu418Lys Single submitter hereditary spastic paraplegia 4 ⚠
p.Glu43Asp Single submitter hereditary spastic paraplegia 4 ⚠
p.Glu43Gln Single submitter hereditary spastic paraplegia 4 ⚠
p.Glu464Lys Single submitter hereditary spastic paraplegia 4 ⚠
p.Glu512= Single submitter hereditary spastic paraplegia 4
p.Gly37Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly484Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly60Asp Single submitter hereditary spastic paraplegia 4 ⚠
p.His241Arg Single submitter Inborn genetic diseases ⚠
p.His455Tyr Single submitter hereditary spastic paraplegia 4 ⚠
p.His46Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Ile163Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Ile344Met Single submitter Inborn genetic diseases ⚠
p.Ile501Leu Single submitter ⚠
p.Leu391= Single submitter hereditary spastic paraplegia 4
p.Leu447Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu466Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu517Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu518Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu582= Single submitter hereditary spastic paraplegia 4
p.Lys10= Single submitter hereditary spastic paraplegia 4
p.Lys290Arg Single submitter SPAST-related disorder ⚠
p.Met253Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Met572Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Met577Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Phe53Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Pro238Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Pro25Ala Single submitter Inborn genetic diseases ⚠
p.Pro293Leu Single submitter hereditary spastic paraplegia 4 ⚠
p.Pro33Ala Single submitter hereditary spastic paraplegia 4 ⚠
p.Pro41_Pro42insAlaAlaGlyProAlaProPro Single submitter hereditary spastic paraplegia 4
p.Pro45Gln Single submitter hereditary spastic paraplegia ⚠
p.Pro509Leu Single submitter hereditary spastic paraplegia 4 ⚠
p.Ser101Leu Single submitter Inborn genetic diseases ⚠
p.Ser103Pro Single submitter Inborn genetic diseases ⚠
p.Ser13Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Ser436Phe Single submitter SPAST-related disorder ⚠
p.Ser588Phe Single submitter SPAST-related disorder ⚠
p.Ser588Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Ser595Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Ser595Asn Single submitter Spastic paraplegia ⚠
p.Ser595Gly Single submitter hereditary spastic paraplegia 4 ⚠
p.Thr209Met Single submitter hereditary spastic paraplegia 4 ⚠
p.Thr306= Single submitter hereditary spastic paraplegia 4
p.Thr369Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Thr550Ile Single submitter hereditary spastic paraplegia 4 ⚠
p.Val278Met Single submitter Inborn genetic diseases ⚠

Benign 55

c.1174-153A>C Multiple submitters
c.1174-161G>A Multiple submitters
c.1617-105T>C Multiple submitters
c.1688-191A>T Multiple submitters
c.502+53T>C Multiple submitters
c.503-118A>T Multiple submitters
c.682+112T>C Multiple submitters
c.683-146C>T Multiple submitters
c.870+283C>T Multiple submitters
c.*1544G>T Multiple submitters hereditary spastic paraplegia 4
c.*1545T>G Multiple submitters hereditary spastic paraplegia 4
c.*1962A>G Multiple submitters hereditary spastic paraplegia 4
c.*1963A>G Multiple submitters hereditary spastic paraplegia 4
c.*2150G>C Multiple submitters hereditary spastic paraplegia 4
c.*2264G>A Multiple submitters hereditary spastic paraplegia 4
c.*2318G>A Multiple submitters hereditary spastic paraplegia 4
c.*2583C>T Multiple submitters hereditary spastic paraplegia 4
c.1098+118A>G Single submitter
c.1098+127A>G Single submitter
c.1174-154G>A Single submitter
c.1174-289T>C Single submitter
c.1246-150_1246-149insC Single submitter
c.1322-37del Single submitter
c.1413+43TA[4] Single submitter
c.1536+27del Single submitter hereditary spastic paraplegia 4
c.1536+27dup Single submitter hereditary spastic paraplegia 4
c.1687+182C>A Single submitter
c.1687+268C>T Single submitter
c.1729-781G>T Single submitter
c.416-268A>T Single submitter
c.502+18T>C Single submitter hereditary spastic paraplegia 4
c.502+284ATT[9] Single submitter
c.502+70TATT[6] Single submitter
c.503-8dup Single submitter hereditary spastic paraplegia 4
c.682+175G>A Single submitter
c.683-561G>A Single submitter
c.683-631G>A Single submitter
c.683-984C>T Single submitter
c.870+131_870+132insT Single submitter
c.870+149_870+150dup Single submitter
c.870+150dup Single submitter
c.871-17del Single submitter hereditary spastic paraplegia 4
c.871-289C>G Single submitter
c.*1410T>G Single submitter hereditary spastic paraplegia 4
c.*1454G>C Single submitter hereditary spastic paraplegia 4
c.*1604G>A Single submitter hereditary spastic paraplegia 4
c.*1969A>T Single submitter hereditary spastic paraplegia 4
c.*1995A>G Single submitter hereditary spastic paraplegia 4
c.*2399C>T Single submitter hereditary spastic paraplegia 4
c.*2433A>G Single submitter hereditary spastic paraplegia 4
c.*2589T>G Single submitter hereditary spastic paraplegia 4
c.*3013T>C Single submitter hereditary spastic paraplegia 4
c.*591A>T Single submitter hereditary spastic paraplegia 4
c.*765A>C Single submitter hereditary spastic paraplegia 4
c.*819C>T Single submitter hereditary spastic paraplegia 4

Benign/Likely benign 20

c.1173+17A>C Multiple submitters hereditary spastic paraplegia 4
c.1493+18G>T Multiple submitters hereditary spastic paraplegia 4
c.1493+6G>A Multiple submitters hereditary spastic paraplegia 4
c.1494-3del Multiple submitters hereditary spastic paraplegia 4
c.1494-3dup Multiple submitters hereditary spastic paraplegia 4
c.1728+16A>G Multiple submitters hereditary spastic paraplegia 4
c.415+12G>A Multiple submitters hereditary spastic paraplegia 4
c.683-9C>T Multiple submitters hereditary spastic paraplegia 4
c.*256A>G Multiple submitters hereditary spastic paraplegia 4
c.*51A>G Multiple submitters hereditary spastic paraplegia 4
p.Arg23Lys Multiple submitters hereditary spastic paraplegia
p.Arg309His Multiple submitters hereditary spastic paraplegia 4
p.Arg581Gln Multiple submitters hereditary spastic paraplegia 4
p.Gln531= Multiple submitters hereditary spastic paraplegia 4
p.His289Tyr Multiple submitters hereditary spastic paraplegia 4
p.Ile359= Multiple submitters hereditary spastic paraplegia 4
p.Pro293= Multiple submitters hereditary spastic paraplegia 4
p.Pro97Thr Multiple submitters hereditary spastic paraplegia 4
p.Ser276= Multiple submitters hereditary spastic paraplegia 4
p.Val162Ile Multiple submitters hereditary spastic paraplegia

Likely benign 228

c.1321+9A>G Multiple submitters hereditary spastic paraplegia 4
c.1414-6T>C Multiple submitters hereditary spastic paraplegia 4
c.1536+17G>T Multiple submitters hereditary spastic paraplegia 4
c.1687+29G>C Multiple submitters
c.415+17G>T Multiple submitters hereditary spastic paraplegia 4
c.416-66C>A Multiple submitters
c.503-117A>T Multiple submitters
c.586+7A>G Multiple submitters hereditary spastic paraplegia 4
c.870+122A>G Multiple submitters
c.871-12G>A Multiple submitters hereditary spastic paraplegia 4
c.-41C>T Multiple submitters hereditary spastic paraplegia 4
p.Ala95= Multiple submitters hereditary spastic paraplegia 4
p.Asp548= Multiple submitters hereditary spastic paraplegia 4
p.Gln473Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu454= Multiple submitters hereditary spastic paraplegia 4
p.Gly385= Multiple submitters hereditary spastic paraplegia 4
p.Gly5= Multiple submitters hereditary spastic paraplegia 4
p.Leu314= Multiple submitters hereditary spastic paraplegia 4
p.Leu363= Multiple submitters hereditary spastic paraplegia 4
p.Leu57= Multiple submitters hereditary spastic paraplegia 4
p.Leu74= Multiple submitters hereditary spastic paraplegia 4
p.Pro22Ala Multiple submitters Inborn genetic diseases
p.Ser13= Multiple submitters hereditary spastic paraplegia 4
p.Ser322Asn Multiple submitters hereditary spastic paraplegia 4
p.Tyr544= Multiple submitters hereditary spastic paraplegia 4
c.1004+16T>C Single submitter hereditary spastic paraplegia 4
c.1004+17A>G Single submitter hereditary spastic paraplegia 4
c.1005-128C>T Single submitter
c.1005-16A>C Single submitter hereditary spastic paraplegia 4
c.1098+19C>A Single submitter hereditary spastic paraplegia
c.1098+19C>G Single submitter
c.1099-12T>C Single submitter hereditary spastic paraplegia 4
c.1099-20C>A Single submitter hereditary spastic paraplegia 4
c.1099-20C>G Single submitter hereditary spastic paraplegia 4
c.1099-4T>G Single submitter hereditary spastic paraplegia 4
c.1099-5148T>G Single submitter
c.1173+12C>G Single submitter hereditary spastic paraplegia 4
c.1173+20T>C Single submitter hereditary spastic paraplegia 4
c.1173+283dup Single submitter
c.1173+7G>T Single submitter hereditary spastic paraplegia 4
c.1173+9T>C Single submitter hereditary spastic paraplegia 4
c.1174-15T>C Single submitter hereditary spastic paraplegia 4
c.1174-16C>T Single submitter hereditary spastic paraplegia 4
c.1174-19G>T Single submitter hereditary spastic paraplegia 4
c.1174-208G>A Single submitter
c.1174-5T>C Single submitter hereditary spastic paraplegia 4
c.1245+10_1245+11del Single submitter hereditary spastic paraplegia 4
c.1245+12G>A Single submitter hereditary spastic paraplegia 4
c.1245+19A>G Single submitter hereditary spastic paraplegia 4
c.1246-21_1246-14del Single submitter hereditary spastic paraplegia 4
c.1321+13T>C Single submitter hereditary spastic paraplegia 4
c.1321+19A>C Single submitter hereditary spastic paraplegia 4
c.1321+20C>T Single submitter hereditary spastic paraplegia 4
c.1321+8C>T Single submitter
c.1322-11A>G Single submitter hereditary spastic paraplegia 4
c.1322-13G>A Single submitter hereditary spastic paraplegia 4
c.1322-18T>C Single submitter hereditary spastic paraplegia 4
c.1322-19A>C Single submitter hereditary spastic paraplegia 4
c.1322-4C>T Single submitter hereditary spastic paraplegia 4
c.1322-7C>T Single submitter hereditary spastic paraplegia 4
c.1413+10_1413+13del Single submitter hereditary spastic paraplegia 4
c.1413+10G>A Single submitter hereditary spastic paraplegia 4
c.1413+19A>G Single submitter hereditary spastic paraplegia 4
c.1414-15A>G Single submitter hereditary spastic paraplegia 4
c.1414-4G>C Single submitter
c.1493+18G>A Single submitter hereditary spastic paraplegia 4
c.1493+8G>A Single submitter hereditary spastic paraplegia 4
c.1493+9A>C Single submitter hereditary spastic paraplegia 4
c.1494-15G>A Single submitter hereditary spastic paraplegia 4
c.1494-7T>C Single submitter hereditary spastic paraplegia 4
c.1494-9T>C Single submitter hereditary spastic paraplegia 4
c.1536+17G>C Single submitter hereditary spastic paraplegia 4
c.1536+266A>G Single submitter
c.1616+18G>A Single submitter hereditary spastic paraplegia 4
c.1616+19G>C Single submitter hereditary spastic paraplegia 4
c.1616+220T>C Single submitter
c.1617-15C>T Single submitter hereditary spastic paraplegia 4
c.1617-253G>A Single submitter
c.1687+10C>A Single submitter hereditary spastic paraplegia 4
c.1687+8T>C Single submitter hereditary spastic paraplegia 4
c.1688-18G>A Single submitter hereditary spastic paraplegia 4
c.1728+12T>C Single submitter hereditary spastic paraplegia 4
c.1728+14_1728+15insTC Single submitter hereditary spastic paraplegia 4
c.1728+16A>C Single submitter hereditary spastic paraplegia 4
c.1728+18_1728+19insGCAG Single submitter hereditary spastic paraplegia 4
c.1728+19A>G Single submitter hereditary spastic paraplegia 4
c.1728+73TG[6] Single submitter
c.415+10G>A Single submitter
c.415+12G>C Single submitter hereditary spastic paraplegia 4
c.415+17G>C Single submitter hereditary spastic paraplegia 4
c.416-153C>T Single submitter
c.416-16A>T Single submitter hereditary spastic paraplegia 4
c.416-17_416-15del Single submitter hereditary spastic paraplegia 4
c.416-240A>G Single submitter
c.416-31C>G Single submitter
c.502+10T>C Single submitter hereditary spastic paraplegia 4
c.502+284ATT[11] Single submitter
c.502+8T>C Single submitter hereditary spastic paraplegia 4
c.502+9del Single submitter hereditary spastic paraplegia 4
c.502+9G>A Single submitter hereditary spastic paraplegia 4
c.503-19A>G Single submitter hereditary spastic paraplegia 4
c.586+14T>C Single submitter hereditary spastic paraplegia 4
c.587-14T>G Single submitter hereditary spastic paraplegia 4
c.587-17C>T Single submitter hereditary spastic paraplegia 4
c.587-4A>G Single submitter hereditary spastic paraplegia 4
c.682+20C>T Single submitter hereditary spastic paraplegia 4
c.683-12T>C Single submitter hereditary spastic paraplegia 4
c.683-13T>C Single submitter hereditary spastic paraplegia 4
c.683-16A>G Single submitter hereditary spastic paraplegia 4
c.870+10del Single submitter
c.870+60A>C Single submitter
c.871-12G>T Single submitter hereditary spastic paraplegia 4
c.*1156T>C Single submitter hereditary spastic paraplegia 4
c.*11T>C Single submitter
c.*244_*247del Single submitter
c.*372TTGT[2] Single submitter
p.Ala102= Single submitter hereditary spastic paraplegia 4
p.Ala104= Single submitter hereditary spastic paraplegia 4
p.Ala104_Pro105insSerAla Single submitter hereditary spastic paraplegia 4
p.Ala104Pro Single submitter Inborn genetic diseases
p.Ala106= Single submitter
p.Ala113= Single submitter hereditary spastic paraplegia 4
p.Ala123= Single submitter hereditary spastic paraplegia 4
p.Ala130= Single submitter hereditary spastic paraplegia 4
p.Ala285Thr Single submitter hereditary spastic paraplegia 4
p.Ala30= Single submitter hereditary spastic paraplegia 4
p.Ala30Val Single submitter hereditary spastic paraplegia 4
p.Ala32= Single submitter hereditary spastic paraplegia 4
p.Ala345= Single submitter hereditary spastic paraplegia 4
p.Ala35= Single submitter
p.Ala373= Single submitter hereditary spastic paraplegia 4
p.Ala375= Single submitter hereditary spastic paraplegia 4
p.Ala39= Single submitter hereditary spastic paraplegia 4
p.Ala408= Single submitter hereditary spastic paraplegia 4
p.Ala538= Single submitter hereditary spastic paraplegia 4
p.Ala603= Single submitter hereditary spastic paraplegia 4
p.Arg176= Single submitter hereditary spastic paraplegia 4
p.Arg221Cys Single submitter hereditary spastic paraplegia 4
p.Arg318= Single submitter
p.Arg364= Single submitter hereditary spastic paraplegia 4
p.Arg459= Single submitter hereditary spastic paraplegia 4
p.Arg81= Single submitter hereditary spastic paraplegia 4
p.Asn405= Single submitter hereditary spastic paraplegia 4
p.Asn487= Single submitter hereditary spastic paraplegia 4
p.Asp134= Single submitter hereditary spastic paraplegia 4
p.Asp210= Single submitter hereditary spastic paraplegia 4
p.Asp214= Single submitter hereditary spastic paraplegia 4
p.Asp444= Single submitter hereditary spastic paraplegia 4
p.Asp584= Single submitter hereditary spastic paraplegia 4
p.Asp613= Single submitter hereditary spastic paraplegia 4
p.Gln141= Single submitter hereditary spastic paraplegia 4
p.Gln599= Single submitter hereditary spastic paraplegia 4
p.Glu125= Single submitter hereditary spastic paraplegia 4
p.Glu43= Single submitter hereditary spastic paraplegia 4
p.Gly256= Single submitter hereditary spastic paraplegia 4
p.Gly262= Single submitter hereditary spastic paraplegia 4
p.Gly346= Single submitter hereditary spastic paraplegia 4
p.Gly37= Single submitter hereditary spastic paraplegia 4
p.Gly8= Single submitter hereditary spastic paraplegia 4
p.His120= Single submitter hereditary spastic paraplegia 4
p.His241= Single submitter hereditary spastic paraplegia 4
p.His264= Single submitter hereditary spastic paraplegia 4
p.His455= Single submitter hereditary spastic paraplegia 4
p.Ile127= Single submitter hereditary spastic paraplegia 4
p.Ile357= Single submitter hereditary spastic paraplegia 4
p.Leu131= Single submitter hereditary spastic paraplegia 4
p.Leu202= Single submitter hereditary spastic paraplegia 4
p.Leu272= Single submitter
p.Leu29= Single submitter hereditary spastic paraplegia 4
p.Leu466= Single submitter
p.Leu552= Single submitter hereditary spastic paraplegia 4
p.Leu63= Single submitter hereditary spastic paraplegia 4
p.Leu71= Single submitter hereditary spastic paraplegia 4
p.Leu73= Single submitter hereditary spastic paraplegia 4
p.Leu78= Single submitter hereditary spastic paraplegia 4
p.Lys151= Single submitter hereditary spastic paraplegia 4
p.Lys312= Single submitter hereditary spastic paraplegia 4
p.Lys9= Single submitter hereditary spastic paraplegia 4
p.Met253Ile Single submitter hereditary spastic paraplegia 4
p.Phe58= Single submitter
p.Phe585= Single submitter hereditary spastic paraplegia 4
p.Phe69= Single submitter hereditary spastic paraplegia 4
p.Phe75Leu Single submitter hereditary spastic paraplegia 4
p.Pro105= Single submitter hereditary spastic paraplegia 4
p.Pro107= Single submitter hereditary spastic paraplegia 4
p.Pro109= Single submitter hereditary spastic paraplegia 4
p.Pro109Leu Single submitter hereditary spastic paraplegia 4
p.Pro19= Single submitter hereditary spastic paraplegia 4
p.Pro203= Single submitter hereditary spastic paraplegia 4
p.Pro22Ser Single submitter Inborn genetic diseases
p.Pro25= Single submitter hereditary spastic paraplegia 4
p.Pro26= Single submitter hereditary spastic paraplegia 4
p.Pro286= Single submitter
p.Pro301= Single submitter hereditary spastic paraplegia 4
p.Pro33= Single submitter hereditary spastic paraplegia 4
p.Pro34= Single submitter hereditary spastic paraplegia 4
p.Pro34Thr Single submitter hereditary spastic paraplegia 4
p.Pro361= Single submitter hereditary spastic paraplegia 4
p.Pro383= Single submitter hereditary spastic paraplegia 4
p.Pro4= Single submitter hereditary spastic paraplegia 4
p.Pro40Leu Single submitter hereditary spastic paraplegia 4
p.Pro41= Single submitter hereditary spastic paraplegia 4
p.Pro42= Single submitter hereditary spastic paraplegia 4
p.Pro45= Single submitter hereditary spastic paraplegia 4
p.Pro489= Single submitter hereditary spastic paraplegia 4
p.Pro56= Single submitter hereditary spastic paraplegia 4
p.Ser101= Single submitter hereditary spastic paraplegia 4
p.Ser17Arg Single submitter hereditary spastic paraplegia 4
p.Ser399= Single submitter hereditary spastic paraplegia 4
p.Ser44= Single submitter hereditary spastic paraplegia 4
p.Ser547= Single submitter hereditary spastic paraplegia 4
p.Ser575= Single submitter hereditary spastic paraplegia 4
p.Ser595= Single submitter hereditary spastic paraplegia 4
p.Thr165Ile Single submitter hereditary spastic paraplegia 4
p.Thr287Ala Single submitter Inborn genetic diseases
p.Thr303= Single submitter hereditary spastic paraplegia 4
p.Thr305= Single submitter hereditary spastic paraplegia 4
p.Thr402= Single submitter hereditary spastic paraplegia 4
p.Tyr126Cys Single submitter hereditary spastic paraplegia 4
p.Tyr505= Single submitter hereditary spastic paraplegia 4
p.Tyr51= Single submitter hereditary spastic paraplegia 4
p.Tyr55= Single submitter hereditary spastic paraplegia 4
p.Val108= Single submitter hereditary spastic paraplegia 4
p.Val20= Single submitter hereditary spastic paraplegia 4
p.Val333= Single submitter
p.Val443= Single submitter hereditary spastic paraplegia 4
p.Val504= Single submitter hereditary spastic paraplegia 4
p.Gly111fs No assertion criteria SPAST-related disorder

Uncertain significance 456

Showing the top 300 by review status; the full set is in the sitemap.

c.1005-5C>A Multiple submitters hereditary spastic paraplegia 4
c.1005-5C>G Multiple submitters
c.1494-3T>G Multiple submitters hereditary spastic paraplegia 4
c.1536+5G>A Multiple submitters hereditary spastic paraplegia
c.1688-3C>G Multiple submitters hereditary spastic paraplegia 4
c.1688-3C>T Multiple submitters hereditary spastic paraplegia 4
c.683-3C>G Multiple submitters hereditary spastic paraplegia 4
p.104AP[3] Multiple submitters hereditary spastic paraplegia 4
p.Ala104Val Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Ala394Val Multiple submitters Inborn genetic diseases ⚠
p.Ala39Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala603Val Multiple submitters Spastic paraplegia ⚠
p.Arg248Cys Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Arg48Trp Multiple submitters hereditary spastic paraplegia 4
p.Arg606Cys Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Arg84Cys Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Asn222Asp Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Asp456Asn Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Asp548Val Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Cys220Trp Multiple submitters Inborn genetic diseases ⚠
p.Cys523Arg Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Cys523Tyr Multiple submitters ⚠
p.Gln141Glu Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Gln525Arg Multiple submitters hereditary spastic paraplegia 4
p.Glu366Lys Multiple submitters hereditary spastic paraplegia ⚠
p.Glu576= Multiple submitters hereditary spastic paraplegia 4
p.Glu602Ala Multiple submitters Inborn genetic diseases ⚠
p.Gly140Glu Multiple submitters ⚠
p.Gly140Val Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Gly277Val Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Gly291Cys Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Gly346Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly385Arg Multiple submitters hereditary spastic paraplegia 4 ⚠
p.His46Gln Multiple submitters Inborn genetic diseases ⚠
p.His70Leu Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Ile605Val Multiple submitters Inborn genetic diseases ⚠
p.Leu185Phe Multiple submitters hereditary spastic paraplegia 4
p.Leu78Val Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Leu86Val Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Lys312Thr Multiple submitters Inborn genetic diseases ⚠
p.Met1Val Multiple submitters hereditary spastic paraplegia 4
p.Met483Thr Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Phe124Leu Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Phe317Cys Multiple submitters hereditary spastic paraplegia 4
p.Pro107Leu Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Pro109Arg Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Pro19Ser Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Pro27Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro33_Ala35del Multiple submitters hereditary spastic paraplegia 4
p.Pro33Leu Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Pro34Leu Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Pro38Arg Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Pro38Leu Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Pro4Arg Multiple submitters hereditary spastic paraplegia 4
p.Pro4Ser Multiple submitters hereditary spastic paraplegia 4
p.Pro56Leu Multiple submitters hereditary spastic paraplegia ⚠
p.Ser215Asn Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Ser227Ala Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Ser282Cys Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Ser322Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser410Ile Multiple submitters SPAST-related disorder ⚠
p.Ser54Cys Multiple submitters SPAST-related disorder ⚠
p.Ser93Pro Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Thr165Ala Multiple submitters Spastic paraplegia ⚠
p.Thr216Ser Multiple submitters Inborn genetic diseases ⚠
p.Thr288Ile Multiple submitters hereditary spastic paraplegia ⚠
p.Thr306Ala Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Tyr51Cys Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Tyr55His Multiple submitters Inborn genetic diseases
p.Val201Ile Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Val278Leu Multiple submitters Inborn genetic diseases ⚠
p.Val416Ala Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Val416Met Multiple submitters Inborn genetic diseases ⚠
p.Val443Gly Multiple submitters hereditary spastic paraplegia ⚠
p.Val482Ala Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Val496Ile Multiple submitters hereditary spastic paraplegia 4 ⚠
p.Val596Ile Multiple submitters Inborn genetic diseases ⚠
c.1098+5G>T Single submitter
c.1098+6A>C Single submitter hereditary spastic paraplegia 4
c.1099-17A>C Single submitter hereditary spastic paraplegia 4
c.1099-5T>A Single submitter
c.1173+2dup Single submitter hereditary spastic paraplegia 4
c.1173+5G>T Single submitter
c.1174-14T>A Single submitter Spastic paraplegia
c.1245+2_1245+4dup Single submitter hereditary spastic paraplegia 4
c.1321+2_1321+3insTT Single submitter hereditary spastic paraplegia 4
c.1321+3A>G Single submitter hereditary spastic paraplegia 4
c.1322-16C>G Single submitter hereditary spastic paraplegia 4
c.1322-3T>G Single submitter hereditary spastic paraplegia
c.1413+3A>G Single submitter hereditary spastic paraplegia 4
c.1413+6T>G Single submitter hereditary spastic paraplegia 4
c.1536+2dup Single submitter hereditary spastic paraplegia 4
c.1537-10T>G Single submitter hereditary spastic paraplegia 4
c.1537-3C>G Single submitter hereditary spastic paraplegia 4
c.1537-5T>G Single submitter hereditary spastic paraplegia 4
c.1616+3_1616+6del Single submitter hereditary spastic paraplegia 4
c.1617-30_1617-7del Single submitter
c.1687+15G>A Single submitter hereditary spastic paraplegia 4
c.1688-10T>C Single submitter
c.1688-4A>C Single submitter
c.1691_1702del Single submitter Spastic paraplegia
c.1729-20T>C Single submitter hereditary spastic paraplegia 4
c.1729-5T>A Single submitter hereditary spastic paraplegia 4
c.415+10G>T Single submitter hereditary spastic paraplegia
c.586+3A>G Single submitter hereditary spastic paraplegia 4
c.682+5G>T Single submitter
c.683-15C>G Single submitter hereditary spastic paraplegia 4
c.871-29_871-9del Single submitter hereditary spastic paraplegia 4
c.871-7C>G Single submitter
c.-168G>A Single submitter hereditary spastic paraplegia 4
c.-220G>T Single submitter hereditary spastic paraplegia 4
c.-4G>A Single submitter
c.-76G>A Single submitter hereditary spastic paraplegia 4
c.-90C>A Single submitter hereditary spastic paraplegia 4
c.*1029G>A Single submitter hereditary spastic paraplegia 4
c.*1231C>T Single submitter hereditary spastic paraplegia 4
c.*1279G>C Single submitter hereditary spastic paraplegia 4
c.*1543_*1544insT Single submitter
c.*157A>C Single submitter hereditary spastic paraplegia 4
c.*1731G>T Single submitter hereditary spastic paraplegia 4
c.*1777G>A Single submitter hereditary spastic paraplegia 4
c.*1783C>T Single submitter hereditary spastic paraplegia 4
c.*1829C>T Single submitter hereditary spastic paraplegia 4
c.*1858T>G Single submitter hereditary spastic paraplegia 4
c.*195T>A Single submitter hereditary spastic paraplegia 4
c.*19C>T Single submitter hereditary spastic paraplegia 4
c.*2196A>T Single submitter hereditary spastic paraplegia 4
c.*219C>T Single submitter hereditary spastic paraplegia 4
c.*2322T>G Single submitter hereditary spastic paraplegia 4
c.*2504A>G Single submitter hereditary spastic paraplegia 4
c.*2658A>T Single submitter hereditary spastic paraplegia 4
c.*2672T>C Single submitter hereditary spastic paraplegia 4
c.*2737G>A Single submitter hereditary spastic paraplegia 4
c.*2779G>A Single submitter hereditary spastic paraplegia 4
c.*2904C>T Single submitter hereditary spastic paraplegia 4
c.*2920T>C Single submitter hereditary spastic paraplegia 4
c.*2987G>C Single submitter hereditary spastic paraplegia 4
c.*382G>A Single submitter hereditary spastic paraplegia 4
c.*478G>T Single submitter hereditary spastic paraplegia 4
c.*494C>T Single submitter hereditary spastic paraplegia 4
c.*521A>G Single submitter hereditary spastic paraplegia 4
c.*533T>G Single submitter hereditary spastic paraplegia 4
c.*6T>C Single submitter
c.*796T>G Single submitter hereditary spastic paraplegia 4
c.*892T>G Single submitter hereditary spastic paraplegia 4
p.101SA[1] Single submitter
p.104AP[1] Single submitter hereditary spastic paraplegia 4
p.Ala104Thr Single submitter Inborn genetic diseases ⚠
p.Ala106Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala161Ser Single submitter Inborn genetic diseases ⚠
p.Ala16Thr Single submitter Inborn genetic diseases ⚠
p.Ala179Asp Single submitter hereditary ataxia ⚠
p.Ala219Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala266Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala32Pro Single submitter ⚠
p.Ala345Gly Single submitter Inborn genetic diseases ⚠
p.Ala345Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala350Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala350Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala36Gly Single submitter Inborn genetic diseases ⚠
p.Ala373Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala375Pro Single submitter hereditary spastic paraplegia 4
p.Ala394= Single submitter hereditary spastic paraplegia 4
p.Ala396Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala39Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala425Gly Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala430Pro Single submitter ⚠
p.Ala485Gly Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala485Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala538Asp Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala551Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala574Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala85Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala88Glu Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala88Val Single submitter ⚠
p.Ala95Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Ala98Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg115Cys Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg173Lys Single submitter Inborn genetic diseases ⚠
p.Arg175Gly Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg176Cys Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg176Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg191His Single submitter ⚠
p.Arg221Leu Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg23Gly Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg248His Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg248Pro Single submitter ⚠
p.Arg265Gly Single submitter Inborn genetic diseases ⚠
p.Arg309Cys Single submitter ⚠
p.Arg318Lys Single submitter Inborn genetic diseases ⚠
p.Arg372Ile Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg431Gln Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg431Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg451Gly Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg488Trp Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg499Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg503Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg514Lys Single submitter ⚠
p.Arg594Cys Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg594His Single submitter Inborn genetic diseases ⚠
p.Arg65Cys Single submitter Inborn genetic diseases ⚠
p.Arg65His Single submitter ⚠
p.Arg7Leu Single submitter hereditary spastic paraplegia 4 ⚠
p.Arg7Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn18Lys Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn213Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn217Lys Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn222Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn222Tyr Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn323Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn335His Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn487_Arg488insIle Single submitter
p.Asn487Lys Single submitter hereditary spastic paraplegia 4 ⚠
p.Asn608Lys Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp136Glu Single submitter Inborn genetic diseases ⚠
p.Asp214Glu Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp214Tyr Single submitter Inborn genetic diseases ⚠
p.Asp237Val Single submitter ⚠
p.Asp334Glu Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp342Gly Single submitter ⚠
p.Asp444Glu Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp470Ala Single submitter ⚠
p.Asp470His Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp478Asn Single submitter hereditary spastic paraplegia 4
p.Asp478Val Single submitter hereditary spastic paraplegia ⚠
p.Asp542Asn Single submitter ⚠
p.Asp542His Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp555Ala Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp555His Single submitter hereditary spastic paraplegia 4 ⚠
p.Asp555Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Cys171Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Cys171Tyr Single submitter Inborn genetic diseases ⚠
p.Cys220Tyr Single submitter hereditary spastic paraplegia 4 ⚠
p.Cys28Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Gln208Lys Single submitter ⚠
p.Gln280Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Gln473= Single submitter hereditary spastic paraplegia 4
p.Gln525= Single submitter
p.Gln525Lys Single submitter hereditary spastic paraplegia 4
p.Gln568Pro Single submitter ⚠
p.Gln599Pro Single submitter hereditary spastic paraplegia 4 ⚠
p.Glu112Ala Single submitter Inborn genetic diseases ⚠
p.Glu114Ala Single submitter Inborn genetic diseases ⚠
p.Glu154Lys Single submitter ⚠
p.Glu331Lys Single submitter ⚠
p.Glu366= Single submitter hereditary spastic paraplegia 4
p.Glu366Val Single submitter ⚠
p.Glu398Lys Single submitter hereditary spastic paraplegia 4 ⚠
p.Glu442_Val443del Single submitter hereditary spastic paraplegia 4
p.Glu567Lys Single submitter Spastic paraplegia ⚠
p.Glu576Asp Single submitter ⚠
p.Gly111Ala Single submitter Inborn genetic diseases ⚠
p.Gly111Cys Single submitter ⚠
p.Gly12Ser Single submitter Inborn genetic diseases ⚠
p.Gly140= Single submitter
p.Gly14Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly159Ala Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly15Ser Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly271Ser Single submitter ⚠
p.Gly291Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly370Trp Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly377Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly37Trp Single submitter Spastic paraplegia ⚠
p.Gly382Ala Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly382Cys Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly382Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly419Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly419Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly453_Glu454insGly Single submitter
p.Gly471Cys Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly471Val Single submitter ⚠
p.Gly526Glu Single submitter hereditary spastic paraplegia 4
p.Gly543Val Single submitter ⚠
p.Gly612Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly6Glu Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly8Glu Single submitter hereditary spastic paraplegia 4 ⚠
p.Gly94Arg Single submitter hereditary spastic paraplegia 4 ⚠
p.His120Asn Single submitter Inborn genetic diseases ⚠
p.His263Arg Single submitter ⚠
p.His264Arg Single submitter ⚠
p.His455Asp Single submitter hereditary spastic paraplegia 4 ⚠
p.His70Asn Single submitter hereditary spastic paraplegia 4 ⚠
p.His70Tyr Single submitter hereditary spastic paraplegia 4 ⚠
p.Ile127Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Ile129Val Single submitter ⚠
p.Ile133Val Single submitter hereditary spastic paraplegia 4 ⚠
p.Ile344Thr Single submitter ⚠
p.Ile406Thr Single submitter hereditary spastic paraplegia 4 ⚠
p.Ile467Val Single submitter ⚠
p.Ile580Asn Single submitter hereditary spastic paraplegia 4 ⚠
p.Ile592del Single submitter hereditary spastic paraplegia
p.Ile592Met Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu272Phe Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu349Phe Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu354Ser Single submitter ⚠
p.Leu354Trp Single submitter ⚠
p.Leu360del Single submitter
p.Leu360Phe Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu379Phe Single submitter hereditary spastic paraplegia 4 ⚠
p.Leu380_Phe381insLeu Single submitter hereditary spastic paraplegia 4