AP4B1 — 477 ClinVar variants

All ClinVar germline AP4B1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →

34 Pathogenic · 7 Pathogenic/Likely pathogenic · 19 Likely pathogenic · 17 Conflicting · 14 Benign · 8 Benign/Likely benign · 134 Likely benign · 244 Uncertain significance

Full AP4B1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 238

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 5

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

AP4B1 p.Arg206Gln Conflicting Single submitter
Inborn genetic diseases
AP4B1 p.Arg583His Conflicting Single submitter
hereditary spastic paraplegia
AP4B1 p.Val193Ile Conflicting Single submitter
Inborn genetic diseases
AP4B1 p.Val300Leu Conflicting Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Val524Ala Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 132

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

AP4B1 p.Ala263Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ala361Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ala58Pro Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ala674Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ala83Pro Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Arg107Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Arg130Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Arg228Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Arg228His Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Arg393Gln Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Asn19Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Asn344His Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Asn623Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Cys415Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Cys73Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Gly444Asp Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Gly568Asp Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ile125Val Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Ile174Thr Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Ile371Val Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ile526Val Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Leu274Phe Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Leu620Pro Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Lys66Asn Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Met100Val Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Met509Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Pro548Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Pro548Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Pro622Leu Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ser323Thr Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ser615Ala Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Thr719Met Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Trp679Gly Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Tyr120Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Val566Ala Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Ala159Val Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ala489Gly Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Ala570Thr Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Ala596Thr Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Ala641Val Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Ala681Val Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg107Gln Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg107Gly Uncertain significance Single submitter
AP4B1 p.Arg137Lys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg138Gly Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg224His Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg353Gln Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg487Gln Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg531Gln Uncertain significance Single submitter
AP4B1 p.Arg583Cys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg608Lys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg624Gly Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg677Gln Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Asn127Ser Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Asn149Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Asn196His Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Asn554Tyr Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Asn721Ser Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Asp61Val Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Cys179Tyr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Cys18Gly Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Cys356Phe Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Cys356Tyr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Cys382Arg Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Gln171Arg Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Gln403Pro Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Gln644Arg Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Gln644Glu Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Glu343Ala Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Glu448Lys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Glu582Lys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Glu607Gln Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Glu632Gln Uncertain significance Single submitter
AP4B1 p.Glu651Lys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Glu700Val Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Glu714Lys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Gly128Asp Uncertain significance Single submitter
AP4B1 p.Gly158Ser Uncertain significance Single submitter
hereditary spastic paraplegia
AP4B1 p.Gly373Asp Uncertain significance Single submitter
AP4B1 p.Gly444Val Uncertain significance Single submitter
AP4B1 p.Gly447Arg Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Gly580Val Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Gly5Ser Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.His148Pro Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.His201Arg Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.His202Tyr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.His305Arg Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.His446Tyr Uncertain significance Single submitter
AP4B1 p.Ile121Met Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ile430Val Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ile440Leu Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ile440Thr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ile503Val Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Ile737Met Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Leu13Pro Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Leu260Arg Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Leu292Pro Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Leu339Pro Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Leu545Ser Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Lys14Arg Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Lys257Arg Uncertain significance Single submitter
AP4B1 p.Lys711Gln Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Met671Ile Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Met671Val Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Phe318Ile Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Phe318Leu Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Pro20Leu Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Pro280Arg Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Pro488His Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Pro602Arg Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Pro701Ala Uncertain significance Single submitter
AP4B1 p.Pro77Leu Uncertain significance Single submitter
AP4B1 p.Pro77Ser Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Pro80Leu Uncertain significance Single submitter
AP4B1 p.Ser242Arg Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ser286Ala Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ser321Phe Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Ser597Ala Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ser722Thr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Thr717Met Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Thr89Met Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Trp213Cys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Tyr322Asp Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Tyr500Cys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Tyr71His Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Val161Ile Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Val175Ala Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Val194Ala Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Val218Ile Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Val340Met Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Val359Gly Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Val566Leu Uncertain significance Single submitter
hereditary spastic paraplegia 47

Predictors split 101

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

AP4B1 p.Arg130Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Arg169His Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Arg169Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Arg224Cys Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Arg301Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Arg301His Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Arg38Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Arg406Gln Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Arg497Cys Uncertain significance Multiple submitters
hereditary spastic paraplegia
AP4B1 p.Arg512Gln Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Arg520His Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Arg531Trp Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Asp432Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Gly250Asp Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.His446Arg Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Ile575Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Leu260Met Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Leu499Phe Uncertain significance Multiple submitters
hereditary spastic paraplegia
AP4B1 p.Met53Ile Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Pro280Ser Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Pro647Ala Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Ser108Asn Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Ser323Leu Benign Multiple submitters
Inborn genetic diseases
AP4B1 p.Thr59Ala Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Thr59Ser Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Val273Ile Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Val348Met Uncertain significance Multiple submitters
Inborn genetic diseases
AP4B1 p.Val640Gly Uncertain significance Multiple submitters
hereditary spastic paraplegia 47
AP4B1 p.Ala200Ser Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ala216Asp Conflicting Single submitter
Inborn genetic diseases
AP4B1 p.Ala216Gly Uncertain significance Single submitter
AP4B1 p.Ala367Thr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ala453Ser Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Ala641Asp Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg113Gly Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg169Cys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg206Gly Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg276Trp Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg290Cys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg290His Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg38Thr Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg482Cys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg482His Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg497His Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Arg520Cys Conflicting Single submitter
Inborn genetic diseases
AP4B1 p.Arg624Cys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Arg649Trp Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Asn196Ser Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Asn31His Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Asn463Ile Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Cys420Arg Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Cys691Trp Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Gln118Arg Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Gln226His Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Gln23Lys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Gln394Pro Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Gln492Glu Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Glu388Ala Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Glu417Lys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Glu505Lys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Gly425Ser Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.His642Gln Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ile186Met Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ile575Thr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Leu13Met Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Leu187Met Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Leu498Phe Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Leu542Phe Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Leu544Phe Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Leu661Ile Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Leu694Phe Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Lys257Thr Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Lys530Glu Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Met100Thr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Met207Thr Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Met72Ile Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Met72Thr Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Phe259Ser Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Phe294Leu Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Phe560Cys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Phe693Leu Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Pro2Gln Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ser108Ile Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Ser248Gly Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Ser535Ile Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Thr357Met Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Thr574Pro Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Thr634Ser Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Thr689Ile Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Thr695Pro Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Tyr327Cys Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Tyr518Cys Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Val117Ala Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Val194Leu Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Val252Ala Conflicting Single submitter
Inborn genetic diseases
AP4B1 p.Val359Met Uncertain significance Single submitter
AP-4 deficiency syndrome
AP4B1 p.Val383Ala Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Val49Phe Uncertain significance Single submitter
Inborn genetic diseases
AP4B1 p.Val529Ile Uncertain significance Single submitter
hereditary spastic paraplegia 47
AP4B1 p.Val640Phe Uncertain significance Single submitter
AP4B1 p.Val68Ile Uncertain significance Single submitter
hereditary spastic paraplegia 47

All AP4B1 variants

Pathogenic 34

c.114-2A>C Multiple submitters hereditary spastic paraplegia 47
c.114-2A>G Multiple submitters Inborn genetic diseases
p.Arg102Ter Multiple submitters hereditary spastic paraplegia 47
p.Arg353Ter Multiple submitters hereditary spastic paraplegia 47
p.Arg393Ter Multiple submitters hereditary spastic paraplegia 47
p.Arg449Ter Multiple submitters Inborn genetic diseases
p.Cys18fs Multiple submitters hereditary spastic paraplegia 47
p.Cys298Ter Multiple submitters hereditary spastic paraplegia 47
p.Gln414Ter Multiple submitters hereditary spastic paraplegia 47
p.Tyr135_Arg137delinsTer Multiple submitters Inborn genetic diseases
c.1510+2T>C Single submitter hereditary spastic paraplegia 47
p.Ala105fs Single submitter hereditary spastic paraplegia 47
p.Ala367fs Single submitter hereditary spastic paraplegia 47
p.Ala375delinsLeuTer Single submitter hereditary spastic paraplegia 47
p.Arg497fs Single submitter hereditary spastic paraplegia 47
p.Asn149Ter Single submitter hereditary spastic paraplegia 47
p.Asn178fs Single submitter
p.Asp131fs Single submitter hereditary spastic paraplegia 47
p.Cys293fs Single submitter hereditary spastic paraplegia 47
p.Cys73Ter Single submitter hereditary spastic paraplegia 47
p.Gln118Ter Single submitter hereditary spastic paraplegia 47
p.Gln394fs Single submitter hereditary spastic paraplegia 47
p.Glu388Ter Single submitter hereditary spastic paraplegia 47
p.Glu467Ter Single submitter hereditary spastic paraplegia 47
p.Gly309fs Single submitter hereditary spastic paraplegia 47
p.Ile371fs Single submitter hereditary spastic paraplegia 47
p.Ile440fs Single submitter hereditary spastic paraplegia 47
p.Leu442fs Single submitter hereditary spastic paraplegia 47
p.Lys329Ter Single submitter hereditary spastic paraplegia 47
c.667del No assertion criteria hereditary spastic paraplegia 47
p.Arg487Ter No assertion criteria hereditary spastic paraplegia 47
p.His148fs No assertion criteria
p.Ser323fs No assertion criteria hereditary spastic paraplegia 47
p.Tyr455Ter No assertion criteria hereditary spastic paraplegia 47

Pathogenic/Likely pathogenic 7

p.Arg206Ter Multiple submitters hereditary spastic paraplegia 47
p.Arg406Ter Multiple submitters hereditary spastic paraplegia
p.Arg514Ter Multiple submitters hereditary spastic paraplegia 47
p.Gln331fs Multiple submitters hereditary spastic paraplegia 47
p.Thr387fs Multiple submitters Inborn genetic diseases
p.Tyr519Ter Multiple submitters AP4B1-related disorder
p.Glu163delinsValTer No assertion criteria hereditary spastic paraplegia 47

Likely pathogenic 19

c.1106_1114+8del Single submitter hereditary spastic paraplegia 47
c.470-2A>C Single submitter Inborn genetic diseases
p.Cys356fs Single submitter hereditary spastic paraplegia 47
p.Gln64Ter Single submitter hereditary spastic paraplegia 47
p.Glu428Ter Single submitter Abnormal brain morphology
p.Gly515fs Single submitter hereditary spastic paraplegia 47
p.Leu222fs Single submitter
p.Leu443Pro Single submitter
p.Phe319Leu Single submitter Abnormal brain morphology
p.Ser538fs Single submitter hereditary spastic paraplegia 47
c.1793-1G>A No assertion criteria Spastic paraplegia
p.Arg137Gly No assertion criteria Spastic paraplegia
p.Asn452fs No assertion criteria Spastic paraplegia
p.Gln331Ter No assertion criteria Spastic paraplegia
p.Leu104fs No assertion criteria Spastic paraplegia
p.Leu499fs No assertion criteria Spastic paraplegia
p.Lys537fs No assertion criteria Spastic paraplegia
p.Pro552fs No assertion criteria Spastic paraplegia
p.Tyr378Ter No assertion criteria AP4B1-related disorder

Conflicting classifications of pathogenicity 17

c.1115-2A>G Single submitter hereditary spastic paraplegia 47
c.114-10C>T Single submitter hereditary spastic paraplegia 47
c.338+5G>A Single submitter hereditary spastic paraplegia 47
p.Ala216Asp Single submitter Inborn genetic diseases ⚠
p.Arg206Gln Single submitter Inborn genetic diseases ⚠
p.Arg520Cys Single submitter Inborn genetic diseases ⚠
p.Arg583His Single submitter hereditary spastic paraplegia ⚠
p.Gln189= Single submitter hereditary spastic paraplegia 47
p.Gln270= Single submitter hereditary spastic paraplegia 47
p.Leu17= Single submitter hereditary spastic paraplegia
p.Met1fs Single submitter hereditary spastic paraplegia 47
p.Pro308= Single submitter hereditary spastic paraplegia
p.Val193Ile Single submitter Inborn genetic diseases ⚠
p.Val252Ala Single submitter Inborn genetic diseases ⚠
p.Val300Leu Single submitter hereditary spastic paraplegia 47 ⚠
p.Val348= Single submitter hereditary spastic paraplegia
p.Val524Ala Single submitter Inborn genetic diseases ⚠

Benign 14

c.113+193C>G Multiple submitters
c.1302+204G>C Multiple submitters
c.1793-9C>G Multiple submitters hereditary spastic paraplegia
c.-78C>T Multiple submitters
p.Gln23= Multiple submitters Inborn genetic diseases
p.Gly192= Multiple submitters Inborn genetic diseases
p.Leu480Ser Multiple submitters Inborn genetic diseases
p.Ser134= Multiple submitters Inborn genetic diseases
p.Ser323Leu Multiple submitters Inborn genetic diseases ⚠
c.1114+162dup Single submitter
c.1303-206T>C Single submitter
c.338+20_338+23del Single submitter hereditary spastic paraplegia 47
c.339-15G>A Single submitter hereditary spastic paraplegia 47
c.618-19del Single submitter hereditary spastic paraplegia 47

Benign/Likely benign 8

c.618-13G>C Multiple submitters hereditary spastic paraplegia 47
p.His268Arg Multiple submitters hereditary spastic paraplegia
p.Ile397Val Multiple submitters Inborn genetic diseases
p.Ile575Val Multiple submitters Inborn genetic diseases
p.Leu304= Multiple submitters Inborn genetic diseases
p.Met51Leu Multiple submitters hereditary spastic paraplegia 47
p.Pro80= Multiple submitters Inborn genetic diseases
p.Tyr455= Multiple submitters Inborn genetic diseases

Likely benign 134

c.1199-222A>G Multiple submitters
c.1792+85A>G Multiple submitters
c.339-87A>C Multiple submitters
c.618-321G>T Multiple submitters
p.Ala715= Multiple submitters Inborn genetic diseases
p.Glu190= Multiple submitters Inborn genetic diseases
p.Glu428= Multiple submitters hereditary spastic paraplegia 47
p.Glu504= Multiple submitters
p.Ile303= Multiple submitters hereditary spastic paraplegia 47
p.Ile575= Multiple submitters hereditary spastic paraplegia 47
p.Ile669= Multiple submitters Inborn genetic diseases
p.Ile734Val Multiple submitters hereditary spastic paraplegia 47
p.Leu160= Multiple submitters Inborn genetic diseases
p.Pro198= Multiple submitters Inborn genetic diseases
p.Pro536= Multiple submitters Inborn genetic diseases
p.Thr256Ile Multiple submitters Inborn genetic diseases
p.Thr357= Multiple submitters hereditary spastic paraplegia 47
p.Thr668= Multiple submitters hereditary spastic paraplegia 47
p.Thr89= Multiple submitters Inborn genetic diseases
c.1114+14C>T Single submitter hereditary spastic paraplegia 47
c.1114+98T>C Single submitter
c.1114+9C>T Single submitter hereditary spastic paraplegia 47
c.1115-103del Single submitter
c.1115-116dup Single submitter
c.1115-13C>T Single submitter hereditary spastic paraplegia 47
c.113+10A>G Single submitter hereditary spastic paraplegia 47
c.113+13T>G Single submitter hereditary spastic paraplegia 47
c.113+20G>T Single submitter hereditary spastic paraplegia 47
c.114-13G>T Single submitter hereditary spastic paraplegia 47
c.114-14T>C Single submitter hereditary spastic paraplegia 47
c.114-6G>T Single submitter hereditary spastic paraplegia 47
c.114-9G>A Single submitter hereditary spastic paraplegia 47
c.1198+7C>A Single submitter hereditary spastic paraplegia 47
c.1199-13G>A Single submitter hereditary spastic paraplegia 47
c.1199-18C>T Single submitter hereditary spastic paraplegia 47
c.1302+11A>G Single submitter hereditary spastic paraplegia 47
c.1302+14C>G Single submitter hereditary spastic paraplegia 47
c.1302+234TTTTG[2] Single submitter
c.1302+8G>A Single submitter hereditary spastic paraplegia 47
c.1303-11T>C Single submitter hereditary spastic paraplegia 47
c.1303-160A>G Single submitter
c.1510+12A>G Single submitter hereditary spastic paraplegia 47
c.1510+9T>C Single submitter
c.1511-19A>G Single submitter hereditary spastic paraplegia 47
c.1792+11T>C Single submitter hereditary spastic paraplegia 47
c.1792+16A>G Single submitter hereditary spastic paraplegia 47
c.1792+8C>T Single submitter hereditary spastic paraplegia 47
c.1793-9C>A Single submitter hereditary spastic paraplegia 47
c.338+19G>C Single submitter hereditary spastic paraplegia 47
c.339-12T>C Single submitter hereditary spastic paraplegia 47
c.339-16A>C Single submitter hereditary spastic paraplegia 47
c.339-16A>G Single submitter hereditary spastic paraplegia 47
c.339-7T>C Single submitter hereditary spastic paraplegia 47
c.469+17C>A Single submitter hereditary spastic paraplegia 47
c.470-14G>A Single submitter hereditary spastic paraplegia 47
c.470-20A>G Single submitter hereditary spastic paraplegia 47
c.617+16C>T Single submitter hereditary spastic paraplegia 47
c.617+17A>G Single submitter hereditary spastic paraplegia 47
c.617+8T>C Single submitter hereditary spastic paraplegia 47
c.618-12T>C Single submitter hereditary spastic paraplegia 47
c.618-13G>A Single submitter hereditary spastic paraplegia 47
c.618-16T>G Single submitter hereditary spastic paraplegia 47
c.618-20T>C Single submitter hereditary spastic paraplegia 47
c.618-4A>T Single submitter hereditary spastic paraplegia 47
c.-66C>G Single submitter
c.*301T>C Single submitter
p.Ala366= Single submitter hereditary spastic paraplegia 47
p.Ala595= Single submitter hereditary spastic paraplegia 47
p.Arg393= Single submitter hereditary spastic paraplegia 47
p.Arg487= Single submitter hereditary spastic paraplegia 47
p.Arg624His Single submitter Inborn genetic diseases
p.Asn341= Single submitter hereditary spastic paraplegia 47
p.Asn452= Single submitter hereditary spastic paraplegia 47
p.Asp211= Single submitter hereditary spastic paraplegia 47
p.Asp358= Single submitter
p.Asp432= Single submitter hereditary spastic paraplegia 47
p.Asp61= Single submitter hereditary spastic paraplegia 47
p.Cys491= Single submitter
p.Cys502= Single submitter hereditary spastic paraplegia 47
p.Cys73= Single submitter
p.Glu607= Single submitter hereditary spastic paraplegia 47
p.Gly152= Single submitter hereditary spastic paraplegia 47
p.Gly435= Single submitter hereditary spastic paraplegia 47
p.His268= Single submitter hereditary spastic paraplegia 47
p.His642= Single submitter hereditary spastic paraplegia 47
p.Ile261= Single submitter hereditary spastic paraplegia 47
p.Ile532= Single submitter hereditary spastic paraplegia 47
p.Leu112= Single submitter hereditary spastic paraplegia 47
p.Leu129= Single submitter hereditary spastic paraplegia 47
p.Leu142= Single submitter hereditary spastic paraplegia 47
p.Leu203= Single submitter
p.Leu204= Single submitter hereditary spastic paraplegia 47
p.Leu282= Single submitter Inborn genetic diseases
p.Leu282= Single submitter hereditary spastic paraplegia 47
p.Leu297= Single submitter hereditary spastic paraplegia 47
p.Leu423= Single submitter hereditary spastic paraplegia 47
p.Leu545= Single submitter hereditary spastic paraplegia 47
p.Leu563= Single submitter hereditary spastic paraplegia 47
p.Leu67= Single submitter hereditary spastic paraplegia 47
p.Leu698= Single submitter
p.Leu70= Single submitter hereditary spastic paraplegia 47
p.Leu727= Single submitter hereditary spastic paraplegia 47
p.Leu78= Single submitter hereditary spastic paraplegia 47
p.Lys278= Single submitter Inborn genetic diseases
p.Lys633= Single submitter hereditary spastic paraplegia 47
p.Lys680= Single submitter hereditary spastic paraplegia 47
p.Phe311= Single submitter Inborn genetic diseases
p.Phe405= Single submitter hereditary spastic paraplegia 47
p.Phe469= Single submitter hereditary spastic paraplegia 47
p.Pro124= Single submitter hereditary spastic paraplegia 47
p.Pro424= Single submitter hereditary spastic paraplegia 47
p.Pro548= Single submitter hereditary spastic paraplegia 47
p.Pro613= Single submitter hereditary spastic paraplegia 47
p.Pro654= Single submitter hereditary spastic paraplegia 47
p.Pro99= Single submitter Inborn genetic diseases
p.Ser313= Single submitter hereditary spastic paraplegia 47
p.Ser592Ala Single submitter Inborn genetic diseases
p.Thr379= Single submitter hereditary spastic paraplegia 47
p.Thr562= Single submitter Inborn genetic diseases
p.Thr717= Single submitter hereditary spastic paraplegia 47
p.Thr74= Single submitter hereditary spastic paraplegia 47
p.Tyr135= Single submitter hereditary spastic paraplegia 47
p.Tyr225= Single submitter Inborn genetic diseases
p.Tyr29= Single submitter hereditary spastic paraplegia 47
p.Tyr519= Single submitter
p.Tyr69= Single submitter hereditary spastic paraplegia 47
p.Val194= Single submitter
p.Val218= Single submitter hereditary spastic paraplegia 47
p.Val333= Single submitter hereditary spastic paraplegia 47
p.Val621= Single submitter hereditary spastic paraplegia 47
p.Val68= Single submitter hereditary spastic paraplegia 47
p.Val726Leu Single submitter Inborn genetic diseases
c.-35G>C No assertion criteria
p.Asn561= No assertion criteria AP4B1-related disorder

Uncertain significance 244

c.470-6T>G Multiple submitters Inborn genetic diseases
c.-77+5G>A Multiple submitters hereditary spastic paraplegia
p.Ala263Thr Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Ala361Val Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Ala58Pro Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Ala674Ser Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Ala83Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg107Trp Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Arg130Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg130Trp Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Arg169His Multiple submitters Inborn genetic diseases ⚠
p.Arg169Ser Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Arg224Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg228Cys Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Arg228His Multiple submitters Inborn genetic diseases ⚠
p.Arg301Cys Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Arg301His Multiple submitters Inborn genetic diseases ⚠
p.Arg38Gly Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Arg393Gln Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Arg406Gln Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Arg497Cys Multiple submitters hereditary spastic paraplegia ⚠
p.Arg512Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg520His Multiple submitters Inborn genetic diseases ⚠
p.Arg531Trp Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Asn19Ser Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Asn344His Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Asn623Ser Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Asp432Asn Multiple submitters Inborn genetic diseases ⚠
p.Cys415Tyr Multiple submitters Inborn genetic diseases ⚠
p.Cys73Ser Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Gly250Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly444Asp Multiple submitters Inborn genetic diseases ⚠
p.Gly568Asp Multiple submitters hereditary spastic paraplegia 47 ⚠
p.His446Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile125Val Multiple submitters Inborn genetic diseases ⚠
p.Ile174Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile371Val Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Ile526Val Multiple submitters Inborn genetic diseases ⚠
p.Ile575Ser Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Leu260Met Multiple submitters Inborn genetic diseases ⚠
p.Leu274Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu499Phe Multiple submitters hereditary spastic paraplegia ⚠
p.Leu620Pro Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Lys66Asn Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Met100Val Multiple submitters Inborn genetic diseases ⚠
p.Met509Thr Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Met53Ile Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Pro280Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro548Leu Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Pro548Thr Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Pro622Leu Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Pro647Ala Multiple submitters Inborn genetic diseases ⚠
p.Ser108Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser323Thr Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Ser615Ala Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Thr59Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr59Ser Multiple submitters hereditary spastic paraplegia 47 ⚠
p.Thr719Met Multiple submitters Inborn genetic diseases ⚠
p.Trp679Gly Multiple submitters Inborn genetic diseases ⚠
p.Tyr120Asn Multiple submitters Inborn genetic diseases ⚠
p.Val273Ile Multiple submitters Inborn genetic diseases ⚠
p.Val348Met Multiple submitters Inborn genetic diseases ⚠
p.Val566Ala Multiple submitters Inborn genetic diseases ⚠
p.Val640Gly Multiple submitters hereditary spastic paraplegia 47 ⚠
c.1114+29G>C Single submitter hereditary spastic paraplegia
c.1198+5T>C Single submitter hereditary spastic paraplegia 47
c.1511-6C>G Single submitter
c.618-3T>C Single submitter hereditary spastic paraplegia 47
c.-78A>G Single submitter
p.Ala159Val Single submitter Inborn genetic diseases ⚠
p.Ala200Ser Single submitter Inborn genetic diseases ⚠
p.Ala216Gly Single submitter ⚠
p.Ala367Thr Single submitter Inborn genetic diseases ⚠
p.Ala453Ser Single submitter hereditary spastic paraplegia 47 ⚠
p.Ala489Gly Single submitter hereditary spastic paraplegia 47 ⚠
p.Ala570Thr Single submitter hereditary spastic paraplegia 47 ⚠
p.Ala596Thr Single submitter hereditary spastic paraplegia 47 ⚠
p.Ala641Asp Single submitter Inborn genetic diseases ⚠
p.Ala641Val Single submitter hereditary spastic paraplegia 47 ⚠
p.Ala681Val Single submitter Inborn genetic diseases ⚠
p.Arg107Gln Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg107Gly Single submitter ⚠
p.Arg113Gly Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg137Lys Single submitter Inborn genetic diseases ⚠
p.Arg138Gly Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg169Cys Single submitter Inborn genetic diseases ⚠
p.Arg206Gly Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg224His Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg276Trp Single submitter Inborn genetic diseases ⚠
p.Arg290Cys Single submitter Inborn genetic diseases ⚠
p.Arg290His Single submitter Inborn genetic diseases ⚠
p.Arg353Gln Single submitter Inborn genetic diseases ⚠
p.Arg38Thr Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg482Cys Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg482His Single submitter Inborn genetic diseases ⚠
p.Arg487Gln Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg497His Single submitter Inborn genetic diseases ⚠
p.Arg520= Single submitter hereditary spastic paraplegia 47
p.Arg531Gln Single submitter ⚠
p.Arg583Cys Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg608Lys Single submitter Inborn genetic diseases ⚠
p.Arg624Cys Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg624Gly Single submitter hereditary spastic paraplegia 47 ⚠
p.Arg649Trp Single submitter Inborn genetic diseases ⚠
p.Arg677Gln Single submitter hereditary spastic paraplegia 47 ⚠
p.Asn127Ser Single submitter Inborn genetic diseases ⚠
p.Asn149Tyr Single submitter hereditary spastic paraplegia 47 ⚠
p.Asn196His Single submitter Inborn genetic diseases ⚠
p.Asn196Ser Single submitter hereditary spastic paraplegia 47 ⚠
p.Asn31His Single submitter hereditary spastic paraplegia 47 ⚠
p.Asn463Ile Single submitter Inborn genetic diseases ⚠
p.Asn554Tyr Single submitter hereditary spastic paraplegia 47 ⚠
p.Asn721Ser Single submitter hereditary spastic paraplegia 47 ⚠
p.Asp61Val Single submitter hereditary spastic paraplegia 47 ⚠
p.Cys179Tyr Single submitter Inborn genetic diseases ⚠
p.Cys18Gly Single submitter hereditary spastic paraplegia 47 ⚠
p.Cys356Phe Single submitter hereditary spastic paraplegia 47 ⚠
p.Cys356Tyr Single submitter Inborn genetic diseases ⚠
p.Cys382Arg Single submitter hereditary spastic paraplegia 47 ⚠
p.Cys420Arg Single submitter hereditary spastic paraplegia 47 ⚠
p.Cys691Trp Single submitter Inborn genetic diseases ⚠
p.Gln118Arg Single submitter Inborn genetic diseases ⚠
p.Gln171Arg Single submitter hereditary spastic paraplegia 47 ⚠
p.Gln226His Single submitter hereditary spastic paraplegia 47 ⚠
p.Gln23Lys Single submitter hereditary spastic paraplegia 47 ⚠
p.Gln346_Val348del Single submitter hereditary spastic paraplegia 47
p.Gln394Pro Single submitter hereditary spastic paraplegia 47 ⚠
p.Gln403Pro Single submitter Inborn genetic diseases ⚠
p.Gln492Glu Single submitter hereditary spastic paraplegia 47 ⚠
p.Gln644Arg Single submitter hereditary spastic paraplegia 47 ⚠
p.Gln644Glu Single submitter Inborn genetic diseases ⚠
p.Glu343Ala Single submitter Inborn genetic diseases ⚠
p.Glu388Ala Single submitter hereditary spastic paraplegia 47 ⚠
p.Glu417Lys Single submitter Inborn genetic diseases ⚠
p.Glu448Lys Single submitter hereditary spastic paraplegia 47 ⚠
p.Glu505Lys Single submitter Inborn genetic diseases ⚠
p.Glu582Lys Single submitter hereditary spastic paraplegia 47 ⚠
p.Glu607Gln Single submitter hereditary spastic paraplegia 47 ⚠
p.Glu632Gln Single submitter ⚠
p.Glu651Lys Single submitter Inborn genetic diseases ⚠
p.Glu700Val Single submitter hereditary spastic paraplegia 47 ⚠
p.Glu714Lys Single submitter Inborn genetic diseases ⚠
p.Gly128Asp Single submitter ⚠
p.Gly158Ser Single submitter hereditary spastic paraplegia ⚠
p.Gly373Asp Single submitter ⚠
p.Gly425Ser Single submitter hereditary spastic paraplegia 47 ⚠
p.Gly444Val Single submitter ⚠
p.Gly447Arg Single submitter Inborn genetic diseases ⚠
p.Gly580Val Single submitter hereditary spastic paraplegia 47 ⚠
p.Gly5Ser Single submitter hereditary spastic paraplegia 47 ⚠
p.His148Pro Single submitter Inborn genetic diseases ⚠
p.His201Arg Single submitter hereditary spastic paraplegia 47 ⚠
p.His202Tyr Single submitter Inborn genetic diseases ⚠
p.His305Arg Single submitter Inborn genetic diseases ⚠
p.His446Tyr Single submitter ⚠
p.His642Gln Single submitter Inborn genetic diseases ⚠
p.Ile121Met Single submitter Inborn genetic diseases ⚠
p.Ile186Met Single submitter Inborn genetic diseases ⚠
p.Ile430Val Single submitter Inborn genetic diseases ⚠
p.Ile440Leu Single submitter Inborn genetic diseases ⚠
p.Ile440Thr Single submitter Inborn genetic diseases ⚠
p.Ile503Val Single submitter hereditary spastic paraplegia 47 ⚠
p.Ile575Thr Single submitter Inborn genetic diseases ⚠
p.Ile708fs Single submitter hereditary spastic paraplegia 47
p.Ile737Met Single submitter hereditary spastic paraplegia 47 ⚠
p.Leu13Met Single submitter hereditary spastic paraplegia 47 ⚠
p.Leu13Pro Single submitter Inborn genetic diseases ⚠
p.Leu187Met Single submitter hereditary spastic paraplegia 47 ⚠
p.Leu260Arg Single submitter Inborn genetic diseases ⚠
p.Leu292Pro Single submitter hereditary spastic paraplegia 47 ⚠
p.Leu339Pro Single submitter Inborn genetic diseases ⚠
p.Leu495= Single submitter hereditary spastic paraplegia
p.Leu498Phe Single submitter hereditary spastic paraplegia 47 ⚠
p.Leu542Phe Single submitter Inborn genetic diseases ⚠
p.Leu544Phe Single submitter Inborn genetic diseases ⚠
p.Leu545Ser Single submitter Inborn genetic diseases ⚠
p.Leu661Ile Single submitter hereditary spastic paraplegia 47 ⚠
p.Leu694Phe Single submitter hereditary spastic paraplegia 47 ⚠
p.Lys14Arg Single submitter hereditary spastic paraplegia 47 ⚠
p.Lys257Arg Single submitter ⚠
p.Lys257Thr Single submitter hereditary spastic paraplegia 47 ⚠
p.Lys530Glu Single submitter hereditary spastic paraplegia 47 ⚠
p.Lys711Gln Single submitter hereditary spastic paraplegia 47 ⚠
p.Met100Thr Single submitter Inborn genetic diseases ⚠
p.Met1Ile Single submitter hereditary spastic paraplegia 47
p.Met207Thr Single submitter Inborn genetic diseases ⚠
p.Met671Ile Single submitter Inborn genetic diseases ⚠
p.Met671Val Single submitter Inborn genetic diseases ⚠
p.Met72Ile Single submitter Inborn genetic diseases ⚠
p.Met72Thr Single submitter hereditary spastic paraplegia 47 ⚠
p.Phe259Ser Single submitter Inborn genetic diseases ⚠
p.Phe294Leu Single submitter Inborn genetic diseases ⚠
p.Phe318Ile Single submitter Inborn genetic diseases ⚠
p.Phe318Leu Single submitter hereditary spastic paraplegia 47 ⚠
p.Phe560Cys Single submitter hereditary spastic paraplegia 47 ⚠
p.Phe693Leu Single submitter Inborn genetic diseases ⚠
p.Pro20Leu Single submitter Inborn genetic diseases ⚠
p.Pro280Arg Single submitter Inborn genetic diseases ⚠
p.Pro2Gln Single submitter Inborn genetic diseases ⚠
p.Pro488His Single submitter hereditary spastic paraplegia 47 ⚠
p.Pro602Arg Single submitter Inborn genetic diseases ⚠
p.Pro701Ala Single submitter ⚠
p.Pro77Leu Single submitter ⚠
p.Pro77Ser Single submitter hereditary spastic paraplegia 47 ⚠
p.Pro80Leu Single submitter ⚠
p.Ser108Ile Single submitter hereditary spastic paraplegia 47 ⚠
p.Ser242Arg Single submitter Inborn genetic diseases ⚠
p.Ser248Gly Single submitter Inborn genetic diseases ⚠
p.Ser286Ala Single submitter Inborn genetic diseases ⚠
p.Ser321Phe Single submitter hereditary spastic paraplegia 47 ⚠
p.Ser535Ile Single submitter Inborn genetic diseases ⚠
p.Ser597Ala Single submitter Inborn genetic diseases ⚠
p.Ser722Thr Single submitter Inborn genetic diseases ⚠
p.Thr357Met Single submitter Inborn genetic diseases ⚠
p.Thr574Pro Single submitter Inborn genetic diseases ⚠
p.Thr634Ser Single submitter hereditary spastic paraplegia 47 ⚠
p.Thr689Ile Single submitter hereditary spastic paraplegia 47 ⚠
p.Thr695Pro Single submitter hereditary spastic paraplegia 47 ⚠
p.Thr717Met Single submitter hereditary spastic paraplegia 47 ⚠
p.Thr89Met Single submitter hereditary spastic paraplegia 47 ⚠
p.Trp213Cys Single submitter hereditary spastic paraplegia 47 ⚠
p.Tyr322Asp Single submitter Inborn genetic diseases ⚠
p.Tyr327Cys Single submitter Inborn genetic diseases ⚠
p.Tyr500Cys Single submitter hereditary spastic paraplegia 47 ⚠
p.Tyr518Cys Single submitter hereditary spastic paraplegia 47 ⚠
p.Tyr71His Single submitter hereditary spastic paraplegia 47 ⚠
p.Val117Ala Single submitter Inborn genetic diseases ⚠
p.Val161Ile Single submitter Inborn genetic diseases ⚠
p.Val175Ala Single submitter Inborn genetic diseases ⚠
p.Val177del Single submitter hereditary spastic paraplegia 47
p.Val194Ala Single submitter Inborn genetic diseases ⚠
p.Val194del Single submitter hereditary spastic paraplegia 47
p.Val194Leu Single submitter Inborn genetic diseases ⚠
p.Val218Ile Single submitter Inborn genetic diseases ⚠
p.Val340Met Single submitter Inborn genetic diseases ⚠
p.Val359Gly Single submitter hereditary spastic paraplegia 47 ⚠
p.Val359Met Single submitter AP-4 deficiency syndrome ⚠
p.Val383Ala Single submitter hereditary spastic paraplegia 47 ⚠
p.Val49Phe Single submitter Inborn genetic diseases ⚠
p.Val529Ile Single submitter hereditary spastic paraplegia 47 ⚠
p.Val566Leu Single submitter hereditary spastic paraplegia 47 ⚠
p.Val640Phe Single submitter ⚠
p.Val68Ile Single submitter hereditary spastic paraplegia 47 ⚠
p.Lys55= No assertion criteria