SPG7 — 1178 ClinVar variants
All ClinVar germline SPG7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 447 flagged for review →
61 Pathogenic · 46 Pathogenic/Likely pathogenic · 67 Likely pathogenic · 89 Conflicting · 56 Benign · 21 Benign/Likely benign · 343 Likely benign · 495 Uncertain significance
Full SPG7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 447
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SPG7 p.Glu126Gln
Pathogenic/Likely pathogenic
Multiple submitters
hereditary spastic paraplegia 7
- SPG7 p.His752Asp Likely pathogenic Single submitter
-
SPG7 p.Phe284Ser
Likely pathogenic
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Thr420Ile Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 38
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SPG7 p.Ala293Val
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala345Pro
Conflicting
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Ala529Val Conflicting Single submitter
-
SPG7 p.Ala637Thr
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala647Val
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala759Thr
Conflicting
Single submitter
hereditary spastic paraplegia
-
SPG7 p.Arg213Gln
Conflicting
Single submitter
Inborn genetic diseases
-
SPG7 p.Arg273His
Conflicting
Single submitter
spastic ataxia
-
SPG7 p.Arg470Gln
Conflicting
Single submitter
SPG7-related disorder
-
SPG7 p.Arg486Gln
Conflicting
Single submitter
hereditary spastic paraplegia
-
SPG7 p.Arg656Pro
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asn721Asp
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asp135Asn
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asp411Asn
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asp650Asn
Conflicting
Single submitter
leukoencephalopathy with vanishing white matter 1
-
SPG7 p.Gln82Glu
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Gly26Cys
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Gly344Asp
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Gly349Val
Conflicting
Single submitter
SPG7-related disorder
-
SPG7 p.Gly352Ser
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Gly423Ser
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Gly577Ala
Conflicting
Single submitter
hereditary spastic paraplegia
-
SPG7 p.Gly577Asp
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Gly632Arg
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.His474Tyr
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.His537Gln
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ile764Val
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Leu175Pro
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Leu695Val
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Leu78Phe
Conflicting
Single submitter
Inborn genetic diseases
-
SPG7 p.Lys113Arg
Conflicting
Single submitter
Inborn genetic diseases
-
SPG7 p.Met152Val
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Pro350Thr
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ser576Trp
Conflicting
Single submitter
SPG7-related disorder
-
SPG7 p.Ser645Thr
Conflicting
Single submitter
inherited retinal dystrophy
-
SPG7 p.Thr644Ile
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Val183Ile
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Val390Ala
Conflicting
Single submitter
hereditary spastic paraplegia 7
Predictors lean, ClinVar uncertain 306
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 306
-
SPG7 p.Ala10Pro
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala120Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
- SPG7 p.Ala149Thr Uncertain significance Multiple submitters
-
SPG7 p.Ala262Pro
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala339Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
- SPG7 p.Ala339Thr Uncertain significance Multiple submitters
-
SPG7 p.Ala361Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala387Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Ala412Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala522Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Ala548Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala590Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala710Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala727Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
SPG7 p.Ala731Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg105Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Arg139Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg13Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg182Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg207Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg391Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
- SPG7 p.Arg391Trp Uncertain significance Multiple submitters
-
SPG7 p.Arg473Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg599Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg599Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg633Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg90Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Asp135Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Asp190Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Asp742Gly
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
SPG7 p.Asp765Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gln435His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gln93His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Glu125Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Glu193Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Glu567Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
- SPG7 p.Glu715Lys Uncertain significance Multiple submitters
-
SPG7 p.Glu789Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Gly118Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Gly300Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gly305Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gly338Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gly338Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gly352Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gly515Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gly56Glu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.His83Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ile148Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ile235Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ile521Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ile657Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Leu335Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Leu471Pro
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Leu496Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Leu498Pro
Uncertain significance
Multiple submitters
leukoencephalopathy with vanishing white matter 1
-
SPG7 p.Leu543Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Leu683Phe
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Leu722Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Leu728Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Lys111Glu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Lys291Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Lys716Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Lys716Glu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Met44Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Met584Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Pro17Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
SPG7 p.Pro350Ala
Uncertain significance
Multiple submitters
leukoencephalopathy with vanishing white matter 1
-
SPG7 p.Pro350His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Pro350Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Pro754Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
- SPG7 p.Ser116Leu Uncertain significance Multiple submitters
-
SPG7 p.Ser189Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ser244Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ser30Asn
Uncertain significance
Multiple submitters
SPG7-related disorder
-
SPG7 p.Ser392Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ser392Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Ser62Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Thr261Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Thr356Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Thr419Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Thr432Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Thr481Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Thr481Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
SPG7 p.Thr503Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Thr71Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Trp793Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Tyr245Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Tyr406Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Val180Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Val311Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Val405Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Val552Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SPG7 p.Val594Ala Uncertain significance Multiple submitters
-
SPG7 p.Ala10Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Ala209Thr Uncertain significance Single submitter
-
SPG7 p.Ala228Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala228Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Ala266Thr Uncertain significance Single submitter
-
SPG7 p.Ala317Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Ala339Gly Uncertain significance Single submitter
- SPG7 p.Ala359Thr Uncertain significance Single submitter
-
SPG7 p.Ala397Pro
Uncertain significance
Single submitter
SPG7-related disorder
-
SPG7 p.Ala453Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala519Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala532Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Ala532Thr Uncertain significance Single submitter
-
SPG7 p.Ala532Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala53Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala548Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala557Pro
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter 1
-
SPG7 p.Ala55Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala602Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala607Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala708Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Ala729Pro Uncertain significance Single submitter
-
SPG7 p.Ala731Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala766Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Arg105Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- SPG7 p.Arg205Gln Uncertain significance Single submitter
- SPG7 p.Arg227Gln Uncertain significance Single submitter
-
SPG7 p.Arg322Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Arg322His Uncertain significance Single submitter
-
SPG7 p.Arg389His
Uncertain significance
Single submitter
Inborn genetic diseases
- SPG7 p.Arg389Leu Uncertain significance Single submitter
-
SPG7 p.Arg417Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Arg457Gln Uncertain significance Single submitter
-
SPG7 p.Arg473Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Arg485Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Arg551Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Arg551His Uncertain significance Single submitter
-
SPG7 p.Arg551Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Arg612Gly Uncertain significance Single submitter
-
SPG7 p.Arg633Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Arg652Met
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
SPG7 p.Arg656His
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Arg66Lys Uncertain significance Single submitter
-
SPG7 p.Asn434Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asn523Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asn87Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asp114Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Asp135Glu Uncertain significance Single submitter
-
SPG7 p.Asp408Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Asp411Gly Uncertain significance Single submitter
- SPG7 p.Asp411His Uncertain significance Single submitter
- SPG7 p.Asp462Asn Uncertain significance Single submitter
- SPG7 p.Asp700Asn Uncertain significance Single submitter
-
SPG7 p.Asp700Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asp765His
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asp772Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Asp772Tyr Uncertain significance Single submitter
Predictors split 99
The independent predictors disagree with each other — read with care.
-
SPG7 p.Ala345Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Ala372Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Ala412Val
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
SPG7 p.Ala533Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala579Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Ala603Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
- SPG7 p.Arg130Cys Uncertain significance Multiple submitters
-
SPG7 p.Arg130His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg131His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg247Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg398Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg398Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg400Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg400Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg508His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
SPG7 p.Arg534Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Arg656Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Arg689Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Glu173Lys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Gly687Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Lys221Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Met314Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
- SPG7 p.Met314Thr Uncertain significance Multiple submitters
-
SPG7 p.Met592Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Phe617Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Phe665Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Pro187Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Tyr138Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Tyr659Cys
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Tyr740Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Tyr740Cys
Uncertain significance
Multiple submitters
inherited retinal dystrophy
-
SPG7 p.Val379Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Val549Met
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 7
-
SPG7 p.Val591Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SPG7 p.Ala200Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala374Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala401Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala458Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala590Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ala647Ser
Conflicting
Single submitter
hereditary spastic paraplegia
-
SPG7 p.Ala658Thr
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Arg141Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SPG7 p.Arg141Trp Uncertain significance Single submitter
- SPG7 p.Arg333Cys Uncertain significance Single submitter
-
SPG7 p.Arg486Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Arg508Cys Uncertain significance Single submitter
-
SPG7 p.Arg625Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SPG7 p.Arg625Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Arg66Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SPG7 p.Arg688Trp
Conflicting
Single submitter
Inborn genetic diseases
-
SPG7 p.Arg689His
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Asn523Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Asn721Ser Uncertain significance Single submitter
- SPG7 p.Gln608His Uncertain significance Single submitter
-
SPG7 p.Glu179Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Glu179Lys Uncertain significance Single submitter
-
SPG7 p.Glu316Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Glu487Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Glu589Ala Uncertain significance Single submitter
-
SPG7 p.Glu620Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Glu702Lys
Conflicting
Single submitter
SPG7-related disorder
-
SPG7 p.Gly249Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.His474Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.His492Gln Uncertain significance Single submitter
- SPG7 p.Ile382Met Uncertain significance Single submitter
-
SPG7 p.Ile404Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SPG7 p.Ile407Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ile674Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ile747Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Ile747Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Leu348Phe Uncertain significance Single submitter
- SPG7 p.Leu706Gln Uncertain significance Single submitter
-
SPG7 p.Leu733Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Lys360Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Lys561Met
Uncertain significance
Single submitter
Inborn genetic diseases
- SPG7 p.Met373Thr Uncertain significance Single submitter
- SPG7 p.Met443Ile Uncertain significance Single submitter
- SPG7 p.Met443Val Uncertain significance Single submitter
- SPG7 p.Met628Ile Uncertain significance Single submitter
-
SPG7 p.Met628Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SPG7 p.Phe287Leu Uncertain significance Single submitter
-
SPG7 p.Phe287Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Phe287Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SPG7 p.Phe324Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Phe676Leu
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Pro198Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SPG7 p.Pro242Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Pro468Ala
Likely pathogenic
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Pro749Leu
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Pro751His
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
- SPG7 p.Ser501Phe Uncertain significance Single submitter
-
SPG7 p.Ser692Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Thr364Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Thr427Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Thr588Met
Conflicting
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Tyr547Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Tyr740His
Uncertain significance
Single submitter
hereditary spastic paraplegia 7
-
SPG7 p.Val581Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SPG7 p.Ala458Val
Uncertain significance
No assertion criteria
SPG7-related disorder
All SPG7 variants
Pathogenic 61
- c.1450-1_1457del Multiple submitters SPG7-related disorder
- c.1937-2A>G Multiple submitters hereditary spastic paraplegia 7
- c.1939del Multiple submitters hereditary spastic paraplegia 7
- c.988-1G>A Multiple submitters hereditary spastic paraplegia
- p.Ala312fs Multiple submitters hereditary spastic paraplegia 7
- p.Ala572Val Multiple submitters Inborn genetic diseases
- p.Arg213Ter Multiple submitters hereditary spastic paraplegia
- p.Arg227Ter Multiple submitters optic atrophy
- p.Arg247Ter Multiple submitters hereditary spastic paraplegia 7
- p.Arg398Ter Multiple submitters SPG7-related disorder
- p.Arg457Ter Multiple submitters hereditary spastic paraplegia 7
- p.Asn288Ter Multiple submitters SPG7-related disorder
- p.Asn739fs Multiple submitters hereditary spastic paraplegia 7
- p.Gln507Ter Multiple submitters hereditary spastic paraplegia 7
- p.Gln568fs Multiple submitters hereditary spastic paraplegia 7
- p.Leu158fs Multiple submitters hereditary spastic paraplegia 7
- p.Leu706fs Multiple submitters SPG7-related disorder
- p.Lys238fs Multiple submitters hereditary spastic paraplegia 7
- p.Lys593Ter Multiple submitters hereditary spastic paraplegia 7
- p.Met260fs Multiple submitters hereditary spastic paraplegia 7
- p.Met699fs Multiple submitters SPG7-related disorder
- p.Pro350fs Multiple submitters hereditary spastic paraplegia 7
- p.Thr261fs Multiple submitters hereditary spastic paraplegia 7
- p.Val258fs Multiple submitters hereditary spastic paraplegia 7
- p.Val540fs Multiple submitters hereditary spastic paraplegia
- c.1150_1150+1insCTAC Single submitter hereditary spastic paraplegia 7
- c.1151-1G>C Single submitter hereditary spastic paraplegia 7
- c.1553-?_1779+?del Single submitter hereditary spastic paraplegia 7
- c.1664-1G>A Single submitter
- c.2182-1009C>T Single submitter hereditary spastic paraplegia 7
- c.286+853A>G Single submitter hereditary spastic paraplegia 7
- c.861+1G>T Single submitter hereditary spastic paraplegia 7
- p.Ala510Leu Single submitter hereditary spastic paraplegia 7
- p.Arg139fs Single submitter
- p.Asn730fs Single submitter
- p.Asp723fs Single submitter hereditary spastic paraplegia 7
- p.Gln435Ter Single submitter hereditary spastic paraplegia 7
- p.Gln491Ter Single submitter hereditary spastic paraplegia 7
- p.Glu112Ter Single submitter
- p.Glu535Ter Single submitter hereditary spastic paraplegia 7
- p.Gly14fs Single submitter hereditary spastic paraplegia 7
- p.Gly199fs Single submitter hereditary spastic paraplegia 7
- p.Gly375fs Single submitter hereditary spastic paraplegia 7
- p.Ile738fs Single submitter hereditary spastic paraplegia 7
- p.Leu393fs Single submitter hereditary spastic paraplegia 7
- p.Leu493fs Single submitter hereditary spastic paraplegia 7
- p.Leu512Pro Single submitter hereditary spastic paraplegia 7
- p.Leu732Pro Single submitter hereditary spastic paraplegia 7
- p.Lys238Ter Single submitter hereditary spastic paraplegia 7
- p.Lys355Ter Single submitter
- p.Lys569fs Single submitter hereditary spastic paraplegia 7
- p.Phe287fs Single submitter hereditary spastic paraplegia 7
- p.Phe623fs Single submitter
- p.Ser116Ter Single submitter Inborn genetic diseases
- p.Ser392fs Single submitter hereditary spastic paraplegia 7
- p.Thr714fs Single submitter hereditary spastic paraplegia 7
- p.Tyr245Ter Single submitter
- p.Tyr270fs Single submitter hereditary spastic paraplegia 7
- p.Val581del Single submitter hereditary spastic paraplegia 7
- p.Val654fs Single submitter hereditary spastic paraplegia 7
- c.1450-446_1779+746delinsAAAGTGCT No assertion criteria hereditary spastic paraplegia 7
Pathogenic/Likely pathogenic 46
- c.1324+2T>G Multiple submitters hereditary spastic paraplegia 7
- c.1552+1G>T Multiple submitters SPG7-related disorder
- c.1553-2_1553-1del Multiple submitters hereditary spastic paraplegia 7
- c.1553-2A>G Multiple submitters hereditary spastic paraplegia 7
- c.1779+1G>T Multiple submitters hereditary spastic paraplegia 7
- c.2104-2A>G Multiple submitters hereditary spastic paraplegia 7
- c.376+1G>T Multiple submitters SPG7-related disorder
- c.759-2A>G Multiple submitters hereditary spastic paraplegia 7
- c.861+1G>C Multiple submitters hereditary spastic paraplegia 7
- c.976_987+3del Multiple submitters hereditary spastic paraplegia 7
- p.Ala359Pro Multiple submitters hereditary spastic paraplegia 7
- p.Ala510Val Multiple submitters Mitochondrial DNA maintenance disorder
- p.Ala647Glu Multiple submitters hereditary spastic paraplegia 7
- p.Arg139Ter Multiple submitters hereditary spastic paraplegia 7
- p.Arg391fs Multiple submitters hereditary spastic paraplegia 7
- p.Arg470Ter Multiple submitters SPG7-related disorder
- p.Gln483Ter Multiple submitters hereditary spastic paraplegia 7
- p.Gln568Ter Multiple submitters hereditary spastic paraplegia 7
- p.Gln621Ter Multiple submitters spastic ataxia
- p.Gln82Ter Multiple submitters hereditary spastic paraplegia 7
- p.Glu112fs Multiple submitters SPG7-related disorder
- p.Glu126Gln Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Glu320Ter Multiple submitters hereditary spastic paraplegia 7
- p.Glu396Ter Multiple submitters hereditary spastic paraplegia 7
- p.Gly349Ser Multiple submitters SPG7-related disorder
- p.Gly352fs Multiple submitters hereditary spastic paraplegia 7
- p.Gly577Ser Multiple submitters hereditary spastic paraplegia 7
- p.Gly666Arg Multiple submitters SPG7-related disorder
- p.Gly672Arg Multiple submitters hereditary chronic pancreatitis
- p.His701Pro Multiple submitters hereditary spastic paraplegia 7
- p.Ile743Thr Multiple submitters SPG7-related disorder
- p.Leu543fs Multiple submitters SPG7-related disorder
- p.Leu67_Leu68insTer Multiple submitters hereditary spastic paraplegia 7
- p.Leu695Pro Multiple submitters hereditary spastic paraplegia 7
- p.Leu78Ter Multiple submitters SPG7-related disorder
- p.Lys558Ter Multiple submitters SPG7-related disorder
- p.Lys559Ter Multiple submitters SPG7-related disorder
- p.Met1Lys Multiple submitters hereditary spastic paraplegia 7
- p.Met757fs Multiple submitters hereditary spastic paraplegia 7
- p.Phe250fs Multiple submitters SPG7-related disorder
- p.Phe691fs Multiple submitters hereditary spastic paraplegia 7
- p.Pro750Leu Multiple submitters SPG7-related disorder
- p.Thr98fs Multiple submitters hereditary spastic paraplegia 7
- p.Trp583Cys Multiple submitters hereditary spastic paraplegia 7
- p.Trp92fs Multiple submitters hereditary spastic paraplegia 7
- p.Val321fs Multiple submitters SPG7-related disorder
Likely pathogenic 67
- c.1936+2T>A Multiple submitters hereditary spastic paraplegia 7
- c.2103+2_2103+20del Multiple submitters hereditary spastic paraplegia 7
- c.286+1G>T Multiple submitters hereditary spastic paraplegia 7
- p.Gly666Val Multiple submitters hereditary spastic paraplegia 7
- p.Met667fs Multiple submitters hereditary spastic paraplegia 7
- p.Met667Ile Multiple submitters hereditary spastic paraplegia 7
- c.1449+1_1779+1del Single submitter hereditary spastic paraplegia 7
- c.1664-89_1671del Single submitter hereditary spastic paraplegia 7
- c.183+1_1449+1del Single submitter hereditary spastic paraplegia 7
- c.1937-2A>T Single submitter hereditary spastic paraplegia 7
- c.2104-1G>C Single submitter hereditary spastic paraplegia 7
- c.2104-2A>C Single submitter SPG7-related disorder
- c.2181+1G>T Single submitter hereditary spastic paraplegia 7
- c.2181+2dup Single submitter hereditary spastic paraplegia 7
- c.2181+5G>A Single submitter hereditary spastic paraplegia 7
- c.2182-1011A>G Single submitter hereditary spastic paraplegia 7
- c.287-1G>C Single submitter
- c.376+2T>A Single submitter hereditary spastic paraplegia 7
- c.377-2A>G Single submitter hereditary spastic paraplegia 7
- c.987+2T>C Single submitter hereditary spastic paraplegia 7
- c.988-42_1046del Single submitter hereditary spastic paraplegia 7
- p.Ala262fs Single submitter hereditary spastic paraplegia 7
- p.Ala359fs Single submitter hereditary spastic paraplegia 7
- p.Arg485fs Single submitter hereditary spastic paraplegia 7
- p.Asn218fs Single submitter hereditary spastic paraplegia 7
- p.Asn739Ter Single submitter hereditary spastic paraplegia 7
- p.Asp650Tyr Single submitter hereditary spastic paraplegia
- p.Gln289Ter Single submitter
- p.Gln500Ter Single submitter hereditary spastic paraplegia 7
- p.Gln664del Single submitter intellectual disability
- p.Gln697Ter Single submitter hereditary spastic paraplegia 7
- p.Glu179Ter Single submitter hereditary spastic paraplegia 7
- p.Glu232fs Single submitter hereditary spastic paraplegia 7
- p.Glu409fs Single submitter
- p.Glu484fs Single submitter hereditary spastic paraplegia 7
- p.Glu566Ter Single submitter hereditary spastic paraplegia 7
- p.Glu586Ter Single submitter hereditary spastic paraplegia 7
- p.Gly349fs Single submitter hereditary spastic paraplegia 7
- p.Gly354Ala Single submitter hereditary spastic paraplegia 7
- p.His752Asp Single submitter ⚠
- p.Leu347fs Single submitter hereditary spastic paraplegia 7
- p.Leu437Pro Single submitter hereditary spastic paraplegia 7
- p.Leu722fs Single submitter hereditary spastic paraplegia 7
- p.Leu733fs Single submitter hereditary spastic paraplegia 7
- p.Lys318fs Single submitter hereditary spastic paraplegia 7
- p.Lys559fs Single submitter hereditary spastic paraplegia 7
- p.Lys663Ter Single submitter
- p.Met1Thr Single submitter hereditary spastic paraplegia 7
- p.Phe284fs Single submitter hereditary spastic paraplegia 7
- p.Phe284Ser Single submitter hereditary spastic paraplegia 7 ⚠
- p.Phe324Ser Single submitter hereditary spastic paraplegia 7
- p.Pro27fs Single submitter hereditary spastic paraplegia 7
- p.Pro468Ala Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ser692Thr Single submitter hereditary spastic paraplegia 7
- p.Thr420Ile Single submitter ⚠
- p.Trp269Ter Single submitter
- p.Tyr100fs Single submitter hereditary spastic paraplegia 7
- p.Tyr138fs Single submitter hereditary spastic paraplegia 7
- p.Tyr195Ter Single submitter
- p.Tyr547Ter Single submitter hereditary spastic paraplegia 7
- p.Val311del Single submitter hereditary spastic paraplegia 7
- p.Val311Glu Single submitter hereditary spastic paraplegia 7
- p.Val368fs Single submitter hereditary spastic paraplegia 7
- c.1450_1459del No assertion criteria hereditary spastic paraplegia 7
- p.Arg688Ter No assertion criteria SPG7-related disorder
- p.His574fs No assertion criteria hereditary spastic paraplegia 7
- p.Val89fs No assertion criteria SPG7-related disorder
Conflicting classifications of pathogenicity 89
- c.1151-8C>T Single submitter hereditary spastic paraplegia
- c.1324+10C>T Single submitter hereditary spastic paraplegia
- c.1324+4224C>T Single submitter
- c.1325-6C>T Single submitter Inborn genetic diseases
- c.1552+2dup Single submitter hereditary spastic paraplegia 7
- c.1664-11C>A Single submitter hereditary spastic paraplegia 7
- c.184-4T>C Single submitter hereditary spastic paraplegia 7
- c.2181+19G>A Single submitter hereditary spastic paraplegia 7
- c.2182-881A>G Single submitter
- c.618+14C>T Single submitter hereditary spastic paraplegia 7
- c.618+8A>G Single submitter hereditary spastic paraplegia 7
- c.619-7C>A Single submitter hereditary spastic paraplegia 7
- c.759-11_759-8del Single submitter hereditary spastic paraplegia 7
- c.759-6C>T Single submitter hereditary spastic paraplegia 7
- c.861+2dup Single submitter hereditary spastic paraplegia 7
- c.861+5G>A Single submitter hereditary spastic paraplegia 7
- c.861+6T>C Single submitter hereditary spastic paraplegia 7
- c.861+8C>G Single submitter hereditary spastic paraplegia 7
- c.987+5A>C Single submitter hereditary spastic paraplegia 7
- c.988-7C>T Single submitter hereditary spastic paraplegia 7
- p.Ala293Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala345Pro Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala412= Single submitter hereditary spastic paraplegia 7
- p.Ala453= Single submitter hereditary spastic paraplegia 7
- p.Ala529Val Single submitter ⚠
- p.Ala637Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala647Ser Single submitter hereditary spastic paraplegia ⚠
- p.Ala647Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala658Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala759Thr Single submitter hereditary spastic paraplegia ⚠
- p.Arg213Gln Single submitter Inborn genetic diseases ⚠
- p.Arg273His Single submitter spastic ataxia ⚠
- p.Arg470Gln Single submitter SPG7-related disorder ⚠
- p.Arg486Gln Single submitter hereditary spastic paraplegia ⚠
- p.Arg551= Single submitter hereditary spastic paraplegia
- p.Arg656Pro Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg688Trp Single submitter Inborn genetic diseases ⚠
- p.Asn102= Single submitter hereditary spastic paraplegia 7
- p.Asn641= Single submitter hereditary spastic paraplegia 7
- p.Asn721Asp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp135Asn Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp411Asn Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp650Asn Single submitter leukoencephalopathy with vanishing white matter 1 ⚠
- p.Gln82Glu Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu702Lys Single submitter SPG7-related disorder ⚠
- p.Glu790= Single submitter hereditary spastic paraplegia 7
- p.Gly26Cys Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gly344= Single submitter hereditary spastic paraplegia
- p.Gly344Asp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gly349Val Single submitter SPG7-related disorder ⚠
- p.Gly352Ser Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gly423Ser Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gly577Ala Single submitter hereditary spastic paraplegia ⚠
- p.Gly577Asp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gly632Arg Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gly74Arg Single submitter hereditary spastic paraplegia
- p.Gly774= Single submitter hereditary spastic paraplegia 7
- p.His172= Single submitter hereditary spastic paraplegia
- p.His474Tyr Single submitter hereditary spastic paraplegia 7 ⚠
- p.His537Gln Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ile219Thr Single submitter hereditary spastic paraplegia 7
- p.Ile657= Single submitter hereditary spastic paraplegia 7
- p.Ile758= Single submitter hereditary spastic paraplegia 7
- p.Ile764Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Leu175Pro Single submitter hereditary spastic paraplegia 7 ⚠
- p.Leu233= Single submitter hereditary spastic paraplegia 7
- p.Leu255= Single submitter hereditary spastic paraplegia 7
- p.Leu67= Single submitter hereditary spastic paraplegia
- p.Leu695= Single submitter hereditary spastic paraplegia 7
- p.Leu695Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Leu78Phe Single submitter Inborn genetic diseases ⚠
- p.Leu84= Single submitter hereditary spastic paraplegia 7
- p.Lys113Arg Single submitter Inborn genetic diseases ⚠
- p.Lys221= Single submitter hereditary spastic paraplegia 7
- p.Lys416= Single submitter hereditary spastic paraplegia 7
- p.Met152Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Phe676Leu Single submitter hereditary spastic paraplegia 7 ⚠
- p.Pro350Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Pro749Leu Single submitter hereditary spastic paraplegia 7 ⚠
- p.Pro791= Single submitter hereditary spastic paraplegia 7
- p.Ser576= Single submitter hereditary spastic paraplegia
- p.Ser576Trp Single submitter SPG7-related disorder ⚠
- p.Ser635Leu Single submitter hereditary spastic paraplegia 7
- p.Ser645Thr Single submitter inherited retinal dystrophy ⚠
- p.Thr419= Single submitter hereditary spastic paraplegia 7
- p.Thr588Met Single submitter hereditary spastic paraplegia 7 ⚠
- p.Thr644Ile Single submitter hereditary spastic paraplegia 7 ⚠
- p.Val183Ile Single submitter hereditary spastic paraplegia 7 ⚠
- p.Val390Ala Single submitter hereditary spastic paraplegia 7 ⚠
Benign 56
- c.1151-111A>G Multiple submitters
- c.1324+4020A>G Multiple submitters
- c.1324+4542A>G Multiple submitters
- c.1449+19G>A Multiple submitters hereditary spastic paraplegia 7
- c.1450-29G>A Multiple submitters hereditary spastic paraplegia 7
- c.1450-78C>T Multiple submitters
- c.1552+65A>C Multiple submitters
- c.1664-112G>A Multiple submitters
- c.1664-130G>T Multiple submitters
- c.1664-177C>T Multiple submitters
- c.1664-344T>C Multiple submitters
- c.1779+47G>C Multiple submitters hereditary spastic paraplegia 7
- c.184-4del Multiple submitters hereditary spastic paraplegia 7
- c.1936+154G>T Multiple submitters
- c.1937-54A>G Multiple submitters
- c.286+46C>T Multiple submitters hereditary spastic paraplegia 7
- c.377-171G>A Multiple submitters
- c.618+12T>C Multiple submitters hereditary spastic paraplegia 7
- c.619-47G>A Multiple submitters hereditary spastic paraplegia 7
- c.619-50C>T Multiple submitters
- c.759-126C>T Multiple submitters
- c.759-162G>A Multiple submitters
- c.861+119C>T Multiple submitters
- c.862-34G>T Multiple submitters hereditary spastic paraplegia 7
- c.987+5A>G Multiple submitters hereditary spastic paraplegia 7
- c.*33C>T Multiple submitters hereditary spastic paraplegia 7
- p.Ala590= Multiple submitters hereditary spastic paraplegia
- p.Ala679= Multiple submitters hereditary spastic paraplegia
- p.Arg294His Multiple submitters hereditary spastic paraplegia 7
- c.1324+148dup Single submitter
- c.1324+197C>T Single submitter
- c.1324+308G>T Single submitter
- c.1324+3816GGTGAGGCG[2] Single submitter
- c.1324+3841dup Single submitter
- c.1324+3849_1324+3850insCGGGCGAGGCGGGCGAGG Single submitter
- c.1324+3850T>C Single submitter
- c.1324+3852A>G Single submitter
- c.1324+3893_1324+3894insAGGTGAGGTGAGGC Single submitter
- c.1324+3941G>C Single submitter
- c.1449+174C>T Single submitter
- c.1450-75del Single submitter
- c.1450-75dup Single submitter
- c.1552+205G>A Single submitter
- c.1552+231C>T Single submitter
- c.1552+244T>C Single submitter
- c.1779+238A>G Single submitter
- c.184-132T>C Single submitter
- c.184-235G>A Single submitter
- c.287-233G>A Single submitter
- c.287-280A>G Single submitter
- c.376+4364C>T Single submitter hereditary spastic paraplegia 7
- c.377-245_377-244insTCTCA Single submitter
- c.618+170C>T Single submitter
- c.619-115C>T Single submitter
- c.758+322C>T Single submitter
- c.987+290C>A Single submitter
Benign/Likely benign 21
- c.1324+4109C>A Multiple submitters
- c.1324+4109C>T Multiple submitters
- c.1324+4173C>T Multiple submitters Inborn genetic diseases
- c.1553-8_1553-7del Multiple submitters hereditary spastic paraplegia 7
- c.1663+13C>T Multiple submitters hereditary spastic paraplegia 7
- c.1663+14G>A Multiple submitters hereditary spastic paraplegia 7
- c.1664-15C>A Multiple submitters hereditary spastic paraplegia 7
- c.1779+20G>A Multiple submitters hereditary spastic paraplegia 7
- c.1780-16_1780-14del Multiple submitters hereditary spastic paraplegia 7
- c.1936+12C>T Multiple submitters hereditary spastic paraplegia 7
- c.1937-16C>G Multiple submitters hereditary spastic paraplegia 7
- c.618+11_618+68del Multiple submitters hereditary spastic paraplegia 7
- c.862-16T>G Multiple submitters hereditary spastic paraplegia 7
- c.987+19G>A Multiple submitters hereditary spastic paraplegia 7
- p.Arg688Gln Multiple submitters hereditary spastic paraplegia
- p.Asn730Asp Multiple submitters hereditary spastic paraplegia
- p.Asp765= Multiple submitters hereditary spastic paraplegia
- p.Ile764= Multiple submitters hereditary spastic paraplegia
- p.Pro760= Multiple submitters hereditary spastic paraplegia
- p.Thr455= Multiple submitters hereditary spastic paraplegia 7
- p.Thr503Ala Multiple submitters hereditary spastic paraplegia
Likely benign 343
Showing the top 300 by review status; the full set is in the sitemap.
- c.1150+19_1150+31del Multiple submitters
- c.1150+9T>A Multiple submitters hereditary spastic paraplegia 7
- c.1324+185C>T Multiple submitters
- c.1324+18C>T Multiple submitters hereditary spastic paraplegia 7
- c.1324+20G>A Multiple submitters hereditary spastic paraplegia 7
- c.1324+4086A>G Multiple submitters
- c.1324+4187C>T Multiple submitters
- c.1324+4312G>T Multiple submitters
- c.1450-17T>C Multiple submitters hereditary spastic paraplegia 7
- c.1552+16G>T Multiple submitters hereditary spastic paraplegia 7
- c.1552+50G>A Multiple submitters
- c.1663+11C>T Multiple submitters hereditary spastic paraplegia 7
- c.1663+9G>A Multiple submitters hereditary spastic paraplegia 7
- c.1779+10G>A Multiple submitters hereditary spastic paraplegia 7
- c.184-5_184-4del Multiple submitters hereditary spastic paraplegia
- c.1936+13G>A Multiple submitters hereditary spastic paraplegia 7
- c.1937-15G>A Multiple submitters hereditary spastic paraplegia 7
- c.1937-44G>A Multiple submitters
- c.1937-9G>A Multiple submitters hereditary spastic paraplegia 7
- c.2103+7C>T Multiple submitters hereditary spastic paraplegia 7
- c.2104-12C>G Multiple submitters hereditary spastic paraplegia 7
- c.2181+255C>G Multiple submitters
- c.2182-18T>C Multiple submitters hereditary spastic paraplegia 7
- c.2182-795C>G Multiple submitters
- c.376+105G>T Multiple submitters
- c.376+140C>T Multiple submitters
- c.377-298G>A Multiple submitters
- c.377-8C>T Multiple submitters hereditary spastic paraplegia 7
- c.759-12_759-11del Multiple submitters hereditary spastic paraplegia 7
- c.861+196C>T Multiple submitters
- c.862-18T>G Multiple submitters hereditary spastic paraplegia 7
- c.987+57C>T Multiple submitters
- c.988-6G>A Multiple submitters hereditary spastic paraplegia 7
- c.*140G>T Multiple submitters hereditary spastic paraplegia 7
- c.*195C>T Multiple submitters hereditary spastic paraplegia 7
- c.*7G>A Multiple submitters
- p.Ala399= Multiple submitters hereditary spastic paraplegia 7
- p.Ala533= Multiple submitters hereditary spastic paraplegia 7
- p.Ala548= Multiple submitters hereditary spastic paraplegia 7
- p.Ala572= Multiple submitters hereditary spastic paraplegia 7
- p.Ala602= Multiple submitters hereditary spastic paraplegia 7
- p.Ala766= Multiple submitters hereditary spastic paraplegia 7
- p.Arg141= Multiple submitters hereditary spastic paraplegia 7
- p.Asn76= Multiple submitters hereditary spastic paraplegia 7
- p.Asp310= Multiple submitters hereditary spastic paraplegia 7
- p.Asp411= Multiple submitters hereditary spastic paraplegia 7
- p.Gly338= Multiple submitters hereditary spastic paraplegia 7
- p.His474= Multiple submitters hereditary spastic paraplegia
- p.His531= Multiple submitters hereditary spastic paraplegia 7
- p.Ile235= Multiple submitters hereditary spastic paraplegia 7
- p.Ile410= Multiple submitters hereditary spastic paraplegia 7
- p.Ile450= Multiple submitters hereditary spastic paraplegia 7
- p.Ile686= Multiple submitters hereditary spastic paraplegia 7
- p.Leu106= Multiple submitters hereditary spastic paraplegia 7
- p.Leu158= Multiple submitters hereditary spastic paraplegia 7
- p.Leu274= Multiple submitters hereditary spastic paraplegia 7
- p.Leu348= Multiple submitters hereditary spastic paraplegia 7
- p.Leu465= Multiple submitters hereditary spastic paraplegia 7
- p.Leu604= Multiple submitters hereditary spastic paraplegia 7
- p.Leu610= Multiple submitters hereditary spastic paraplegia 7
- p.Leu68= Multiple submitters hereditary spastic paraplegia 7
- p.Phe545= Multiple submitters hereditary spastic paraplegia 7
- p.Pro749= Multiple submitters hereditary spastic paraplegia 7
- p.Pro750= Multiple submitters hereditary spastic paraplegia 7
- p.Ser161= Multiple submitters hereditary spastic paraplegia 7
- p.Ser425= Multiple submitters hereditary spastic paraplegia 7
- p.Thr432= Multiple submitters hereditary spastic paraplegia 7
- p.Thr481= Multiple submitters hereditary spastic paraplegia 7
- p.Thr542= Multiple submitters hereditary spastic paraplegia 7
- p.Thr588= Multiple submitters hereditary spastic paraplegia 7
- p.Thr714= Multiple submitters hereditary spastic paraplegia 7
- p.Val151= Multiple submitters hereditary spastic paraplegia 7
- c.1150+13G>C Single submitter hereditary spastic paraplegia 7
- c.1150+16G>A Single submitter hereditary spastic paraplegia 7
- c.1151-14C>G Single submitter hereditary spastic paraplegia 7
- c.1151-16C>G Single submitter hereditary spastic paraplegia 7
- c.1151-18C>T Single submitter hereditary spastic paraplegia 7
- c.1151-7C>T Single submitter hereditary spastic paraplegia 7
- c.1324+11G>A Single submitter hereditary spastic paraplegia 7
- c.1324+15G>A Single submitter hereditary spastic paraplegia 7
- c.1324+19C>T Single submitter hereditary spastic paraplegia 7
- c.1324+222C>T Single submitter
- c.1324+272A>G Single submitter
- c.1324+302C>T Single submitter
- c.1324+3842_1324+3850del Single submitter
- c.1324+3845T>C Single submitter
- c.1324+3849_1324+3850insCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCAGGTGAGGCGGGTGAGG Single submitter
- c.1324+3855T>C Single submitter
- c.1324+3861A>G Single submitter
- c.1324+3861del Single submitter
- c.1324+3864_1324+3867del Single submitter
- c.1324+3864T>C Single submitter
- c.1324+3865G>C Single submitter
- c.1324+3869T>C Single submitter
- c.1324+3878T>C Single submitter
- c.1324+3883T>C Single submitter
- c.1324+3884C>G Single submitter
- c.1324+3989_1324+3997dup Single submitter
- c.1324+4121C>T Single submitter
- c.1324+4186C>A Single submitter
- c.1324+4190C>T Single submitter
- c.1324+4191G>A Single submitter
- c.1324+4246C>T Single submitter
- c.1324+4321A>G Single submitter
- c.1324+4547C>A Single submitter
- c.1324+4682G>A Single submitter
- c.1324+69G>A Single submitter
- c.1325-12_1325-11del Single submitter hereditary spastic paraplegia 7
- c.1325-302G>A Single submitter
- c.1325-8C>G Single submitter
- c.1449+16C>T Single submitter
- c.1449+55C>G Single submitter
- c.1449+84C>T Single submitter
- c.1450-16C>T Single submitter
- c.1450-6T>C Single submitter hereditary spastic paraplegia 7
- c.1450-75C>A Single submitter
- c.1552+103C>T Single submitter
- c.1552+13C>A Single submitter hereditary spastic paraplegia 7
- c.1552+15C>T Single submitter hereditary spastic paraplegia 7
- c.1552+4_1552+11dup Single submitter hereditary spastic paraplegia 7
- c.1553-131C>G Single submitter
- c.1553-20G>A Single submitter hereditary spastic paraplegia 7
- c.1553-4A>G Single submitter hereditary spastic paraplegia 7
- c.1553-4A>T Single submitter hereditary spastic paraplegia 7
- c.1553-5G>C Single submitter hereditary spastic paraplegia 7
- c.1553-6T>G Single submitter
- c.1663+112C>T Single submitter
- c.1663+12G>A Single submitter hereditary spastic paraplegia 7
- c.1664-13G>A Single submitter hereditary spastic paraplegia 7
- c.1664-14C>G Single submitter
- c.1664-14C>T Single submitter hereditary spastic paraplegia 7
- c.1664-17C>T Single submitter hereditary spastic paraplegia 7
- c.1664-7C>A Single submitter hereditary spastic paraplegia 7
- c.1779+12C>A Single submitter hereditary spastic paraplegia 7
- c.1779+69G>A Single submitter
- c.1780-10C>T Single submitter hereditary spastic paraplegia 7
- c.1780-17T>C Single submitter hereditary spastic paraplegia 7
- c.1780-259T>G Single submitter
- c.1780-7G>C Single submitter hereditary spastic paraplegia 7
- c.1780-94C>T Single submitter
- c.184-17T>C Single submitter hereditary spastic paraplegia 7
- c.184-19del Single submitter hereditary spastic paraplegia 7
- c.184-19G>T Single submitter hereditary spastic paraplegia 7
- c.184-300G>C Single submitter
- c.184-4dup Single submitter
- c.1936+15C>T Single submitter hereditary spastic paraplegia 7
- c.1936+16G>A Single submitter hereditary spastic paraplegia 7
- c.1936+17C>T Single submitter hereditary spastic paraplegia 7
- c.1936+18G>A Single submitter hereditary spastic paraplegia 7
- c.1936+8G>A Single submitter hereditary spastic paraplegia 7
- c.1936+9C>T Single submitter hereditary spastic paraplegia 7
- c.1937-10C>T Single submitter hereditary spastic paraplegia 7
- c.1937-11C>T Single submitter hereditary spastic paraplegia 7
- c.1937-16C>T Single submitter hereditary spastic paraplegia 7
- c.2103+8G>A Single submitter
- c.2103+95G>T Single submitter
- c.2104-12C>T Single submitter hereditary spastic paraplegia 7
- c.2104-231C>T Single submitter
- c.2104-24del Single submitter
- c.2181+118A>G Single submitter
- c.2181+18C>T Single submitter hereditary spastic paraplegia 7
- c.2181+235C>G Single submitter
- c.2181+6G>A Single submitter
- c.2182-19C>T Single submitter hereditary spastic paraplegia 7
- c.2182-283G>A Single submitter
- c.2182-4C>A Single submitter hereditary spastic paraplegia 7
- c.2182-869G>C Single submitter
- c.2182-908G>A Single submitter
- c.2182-914G>A Single submitter
- c.286+148C>A Single submitter
- c.286+15A>G Single submitter
- c.286+218G>A Single submitter
- c.287-11A>T Single submitter
- c.287-12T>C Single submitter hereditary spastic paraplegia 7
- c.287-15C>G Single submitter hereditary spastic paraplegia 7
- c.287-70A>C Single submitter
- c.376+12T>C Single submitter hereditary spastic paraplegia 7
- c.376+16_376+18del Single submitter hereditary spastic paraplegia 7
- c.376+16G>A Single submitter hereditary spastic paraplegia 7
- c.376+18T>A Single submitter hereditary spastic paraplegia 7
- c.377-12C>G Single submitter
- c.377-24C>T Single submitter
- c.377-6G>A Single submitter hereditary spastic paraplegia 7
- c.618+15G>A Single submitter
- c.618+16G>A Single submitter hereditary spastic paraplegia 7
- c.618+21_618+34del Single submitter
- c.618+9G>C Single submitter hereditary spastic paraplegia 7
- c.619-10T>C Single submitter hereditary spastic paraplegia 7
- c.619-20C>G Single submitter hereditary spastic paraplegia 7
- c.619-228C>T Single submitter
- c.619-233C>T Single submitter
- c.619-4C>G Single submitter hereditary spastic paraplegia 7
- c.619-6C>T Single submitter
- c.758+14A>G Single submitter hereditary spastic paraplegia 7
- c.758+17T>C Single submitter
- c.758+294C>T Single submitter
- c.758+316A>G Single submitter
- c.759-11del Single submitter hereditary spastic paraplegia 7
- c.759-18CT[2] Single submitter hereditary spastic paraplegia 7
- c.759-20G>C Single submitter hereditary spastic paraplegia 7
- c.759-333G>A Single submitter
- c.759-4G>A Single submitter hereditary spastic paraplegia 7
- c.861+10G>A Single submitter hereditary spastic paraplegia 7
- c.861+17A>G Single submitter hereditary spastic paraplegia 7
- c.861+18G>C Single submitter hereditary spastic paraplegia 7
- c.861+18G>T Single submitter hereditary spastic paraplegia 7
- c.861+19A>G Single submitter hereditary spastic paraplegia 7
- c.861+20G>C Single submitter hereditary spastic paraplegia 7
- c.861+313T>C Single submitter
- c.861+321T>C Single submitter
- c.862-15G>A Single submitter hereditary spastic paraplegia 7
- c.987+11C>T Single submitter hereditary spastic paraplegia 7
- c.987+151T>C Single submitter
- c.987+16G>T Single submitter hereditary spastic paraplegia 7
- c.987+216A>G Single submitter
- c.988-110C>T Single submitter
- c.988-115G>A Single submitter
- c.988-12G>C Single submitter hereditary spastic paraplegia 7
- c.988-19A>G Single submitter
- c.988-235T>G Single submitter
- c.*106A>G Single submitter
- c.*118A>G Single submitter
- c.*122T>C Single submitter
- c.*362C>T Single submitter hereditary spastic paraplegia 7
- c.*441T>C Single submitter hereditary spastic paraplegia 7
- c.*549A>C Single submitter hereditary spastic paraplegia 7
- c.*587G>A Single submitter hereditary spastic paraplegia 7
- c.*592C>T Single submitter hereditary spastic paraplegia 7
- c.*656G>C Single submitter hereditary spastic paraplegia 7
- p.Ala10= Single submitter hereditary spastic paraplegia 7
- p.Ala120= Single submitter hereditary spastic paraplegia 7
- p.Ala149= Single submitter
- p.Ala200= Single submitter hereditary spastic paraplegia 7
- p.Ala209= Single submitter hereditary spastic paraplegia 7
- p.Ala254= Single submitter hereditary spastic paraplegia 7
- p.Ala275= Single submitter hereditary spastic paraplegia 7
- p.Ala317= Single submitter hereditary spastic paraplegia 7
- p.Ala361= Single submitter hereditary spastic paraplegia 7
- p.Ala372= Single submitter hereditary spastic paraplegia 7
- p.Ala397= Single submitter hereditary spastic paraplegia 7
- p.Ala528= Single submitter hereditary spastic paraplegia 7
- p.Ala529= Single submitter
- p.Ala532= Single submitter hereditary spastic paraplegia 7
- p.Ala579= Single submitter hereditary spastic paraplegia 7
- p.Ala629= Single submitter hereditary spastic paraplegia 7
- p.Ala637= Single submitter
- p.Ala658= Single submitter hereditary spastic paraplegia 7
- p.Arg133= Single submitter hereditary spastic paraplegia 7
- p.Arg213= Single submitter
- p.Arg417= Single submitter hereditary spastic paraplegia 7
- p.Arg473= Single submitter hereditary spastic paraplegia 7
- p.Arg485= Single submitter hereditary spastic paraplegia 7
- p.Arg599= Single submitter hereditary spastic paraplegia 7
- p.Asn168= Single submitter hereditary spastic paraplegia 7
- p.Asn218= Single submitter
- p.Asn601= Single submitter hereditary spastic paraplegia 7
- p.Asp124= Single submitter hereditary spastic paraplegia 7
- p.Asp134= Single submitter hereditary spastic paraplegia 7
- p.Asp190= Single submitter
- p.Cys353= Single submitter hereditary spastic paraplegia 7
- p.Gln435= Single submitter hereditary spastic paraplegia 7
- p.Gln64= Single submitter hereditary spastic paraplegia 7
- p.Gln726= Single submitter
- p.Gln771Glu Single submitter
- p.Gln82= Single submitter hereditary spastic paraplegia 7
- p.Glu224= Single submitter hereditary spastic paraplegia 7
- p.Glu546= Single submitter
- p.Glu642Lys Single submitter Inborn genetic diseases
- p.Glu702= Single submitter
- p.Gly199= Single submitter
- p.Gly252= Single submitter hereditary spastic paraplegia 7
- p.Gly264= Single submitter hereditary spastic paraplegia 7
- p.Gly349= Single submitter hereditary spastic paraplegia 7
- p.Gly354= Single submitter
- p.Gly414= Single submitter hereditary spastic paraplegia 7
- p.Gly469= Single submitter hereditary spastic paraplegia 7
- p.Gly555= Single submitter
- p.Gly682= Single submitter
- p.Gly96= Single submitter hereditary spastic paraplegia 7
- p.His315= Single submitter hereditary spastic paraplegia 7
- p.Ile165= Single submitter hereditary spastic paraplegia 7
- p.Ile219= Single submitter hereditary spastic paraplegia 7
- p.Ile297= Single submitter hereditary spastic paraplegia 7
- p.Ile407= Single submitter
- p.Ile521= Single submitter hereditary spastic paraplegia 7
- p.Ile671= Single submitter hereditary spastic paraplegia 7
- p.Leu146= Single submitter hereditary spastic paraplegia 7
- p.Leu210= Single submitter hereditary spastic paraplegia 7
- p.Leu335= Single submitter hereditary spastic paraplegia 7
- p.Leu496= Single submitter hereditary spastic paraplegia 7
- p.Leu580= Single submitter
- p.Leu630= Single submitter
- p.Leu65= Single submitter hereditary spastic paraplegia 7
- p.Leu651= Single submitter
- p.Leu7= Single submitter hereditary spastic paraplegia 7
- p.Leu725= Single submitter hereditary spastic paraplegia 7
- p.Lys113= Single submitter hereditary spastic paraplegia 7
- p.Lys119= Single submitter hereditary spastic paraplegia 7
- p.Lys340= Single submitter
- p.Lys360= Single submitter hereditary spastic paraplegia 7
Uncertain significance 495
Showing the top 300 by review status; the full set is in the sitemap.
- c.1324+4143C>T Multiple submitters SPG7-related disorder
- c.1449+5G>C Multiple submitters
- c.1779+5G>T Multiple submitters hereditary spastic paraplegia 7
- c.286+3A>G Multiple submitters hereditary spastic paraplegia 7
- c.377-7G>A Multiple submitters hereditary spastic paraplegia 7
- c.619-3C>G Multiple submitters hereditary spastic paraplegia 7
- c.759-5G>A Multiple submitters hereditary spastic paraplegia 7
- p.Ala10Pro Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala120Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala149Thr Multiple submitters ⚠
- p.Ala262Pro Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala339Asp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala339Thr Multiple submitters ⚠
- p.Ala345Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala361Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala372Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala387Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala412Thr Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala412Val Multiple submitters inherited retinal dystrophy ⚠
- p.Ala522Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala533Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala548Asp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala579Thr Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala590Asp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala603Thr Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala710Thr Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ala727= Multiple submitters hereditary spastic paraplegia 7
- p.Ala727Val Multiple submitters inherited retinal dystrophy ⚠
- p.Ala731Thr Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg105Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg130Cys Multiple submitters ⚠
- p.Arg130His Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg131His Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg139Gln Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg13Trp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg182Cys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg207Gln Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg207Trp Multiple submitters hereditary spastic paraplegia 7
- p.Arg247Gln Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg391Gln Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg391Trp Multiple submitters ⚠
- p.Arg398Gln Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg398Leu Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg400Gln Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg400Trp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg473Gln Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg508His Multiple submitters hereditary spastic paraplegia ⚠
- p.Arg534Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg599Leu Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg599Trp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg633Trp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg656Cys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg689Cys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Arg90Ser Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Asp135Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp190Asn Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Asp742Gly Multiple submitters hereditary spastic paraplegia ⚠
- p.Asp765Asn Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gln435His Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gln93His Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Glu125Lys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Glu173Lys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Glu193Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu567Lys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Glu715Lys Multiple submitters ⚠
- p.Glu789Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu789Ter Multiple submitters hereditary spastic paraplegia 7
- p.Gly118Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly279Glu Multiple submitters hereditary spastic paraplegia 7
- p.Gly283Arg Multiple submitters hereditary spastic paraplegia 7
- p.Gly300Arg Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gly305Ala Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gly338Asp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gly338Cys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gly352Ala Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gly515Arg Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gly56Glu Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Gly687Arg Multiple submitters Inborn genetic diseases ⚠
- p.His83Arg Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ile148Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ile235Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ile521Met Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ile657Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Leu335Arg Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Leu471Pro Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Leu496Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Leu498Pro Multiple submitters leukoencephalopathy with vanishing white matter 1 ⚠
- p.Leu543Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Leu683Phe Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Leu722Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu728Val Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Leu80del Multiple submitters hereditary spastic paraplegia 7
- p.Lys111Glu Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Lys221Asn Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Lys291Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys716Asn Multiple submitters Inborn genetic diseases ⚠
- p.Lys716Glu Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Met314Ile Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Met314Thr Multiple submitters ⚠
- p.Met44Ile Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Met584Ile Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Met592Arg Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Phe617Leu Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Phe665Leu Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Pro17Arg Multiple submitters hereditary spastic paraplegia ⚠
- p.Pro187Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro350Ala Multiple submitters leukoencephalopathy with vanishing white matter 1 ⚠
- p.Pro350His Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Pro350Ser Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Pro754Leu Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ser116Leu Multiple submitters ⚠
- p.Ser189Asn Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ser244Ala Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ser30Asn Multiple submitters SPG7-related disorder ⚠
- p.Ser392Asn Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Ser392Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser62Asn Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Thr261Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr356Met Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Thr419Ile Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Thr432Met Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Thr481Arg Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Thr481Met Multiple submitters hereditary spastic paraplegia ⚠
- p.Thr503Ile Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Thr71Ala Multiple submitters Inborn genetic diseases ⚠
- p.Trp793Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr138Ser Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Tyr195Cys Multiple submitters hereditary spastic paraplegia 7
- p.Tyr245Cys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Tyr406Cys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Tyr659Cys Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Tyr740Asp Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Tyr740Cys Multiple submitters inherited retinal dystrophy ⚠
- p.Val180Met Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Val311Met Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Val379Met Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Val405Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val540Met Multiple submitters
- p.Val549Met Multiple submitters hereditary spastic paraplegia 7 ⚠
- p.Val552Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val591Met Multiple submitters Inborn genetic diseases ⚠
- p.Val594Ala Multiple submitters ⚠
- c.1150+17G>A Single submitter hereditary spastic paraplegia 7
- c.1150+5G>A Single submitter
- c.1324+4222C>T Single submitter hereditary spastic paraplegia 7
- c.1324+4273G>T Single submitter hereditary spastic paraplegia 7
- c.1324+4A>T Single submitter
- c.1324+7G>A Single submitter hereditary spastic paraplegia 7
- c.1449+6_1449+7del Single submitter hereditary spastic paraplegia 7
- c.1552+4C>T Single submitter hereditary spastic paraplegia 7
- c.1552+5G>A Single submitter hereditary spastic paraplegia 7
- c.1553-3C>G Single submitter hereditary spastic paraplegia 7
- c.1663+3A>G Single submitter hereditary spastic paraplegia 7
- c.1663+5A>G Single submitter hereditary spastic paraplegia 7
- c.1663+6G>T Single submitter hereditary spastic paraplegia 7
- c.184-3C>A Single submitter
- c.1937-89C>T Single submitter hereditary spastic paraplegia 7
- c.2104-7C>G Single submitter
- c.2182-831G>A Single submitter
- c.286+4T>A Single submitter hereditary spastic paraplegia 7
- c.376+1G>C Single submitter
- c.377-39A>C Single submitter hereditary spastic paraplegia 7
- c.618+14_618+36del Single submitter hereditary spastic paraplegia 7
- c.619-3C>T Single submitter Inborn genetic diseases
- c.758+4T>C Single submitter hereditary spastic paraplegia 7
- c.759-15T>G Single submitter hereditary spastic paraplegia 7
- c.862-3C>T Single submitter hereditary spastic paraplegia 7
- c.862-8C>A Single submitter
- c.988-15T>C Single submitter hereditary spastic paraplegia 7
- c.988-17T>C Single submitter hereditary spastic paraplegia 7
- c.988-3C>T Single submitter hereditary spastic paraplegia 7
- c.*11T>A Single submitter hereditary spastic paraplegia 7
- c.*222G>A Single submitter hereditary spastic paraplegia 7
- c.*24C>T Single submitter hereditary spastic paraplegia 7
- c.*341A>G Single submitter hereditary spastic paraplegia 7
- c.*398G>A Single submitter hereditary spastic paraplegia 7
- c.*432G>A Single submitter hereditary spastic paraplegia 7
- c.*483A>G Single submitter hereditary spastic paraplegia 7
- c.*97G>A Single submitter hereditary spastic paraplegia 7
- c.*99G>A Single submitter hereditary spastic paraplegia 7
- p.Ala10Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala149Val Single submitter
- p.Ala200Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala209Thr Single submitter ⚠
- p.Ala228Gly Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala228Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala266Thr Single submitter ⚠
- p.Ala317Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala339Gly Single submitter ⚠
- p.Ala359Thr Single submitter ⚠
- p.Ala374Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala397Pro Single submitter SPG7-related disorder ⚠
- p.Ala401Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala453Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala458Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala519Pro Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala532Gly Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala532Thr Single submitter ⚠
- p.Ala532Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala53Gly Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala548Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala557Pro Single submitter leukoencephalopathy with vanishing white matter 1 ⚠
- p.Ala55Asp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala590Ser Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala602Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala607Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala708Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala729Pro Single submitter ⚠
- p.Ala731Val Single submitter hereditary spastic paraplegia 7 ⚠
- p.Ala766Thr Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg105Lys Single submitter Inborn genetic diseases ⚠
- p.Arg141Gln Single submitter Inborn genetic diseases ⚠
- p.Arg141Trp Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg227Gln Single submitter ⚠
- p.Arg273Cys Single submitter hereditary spastic paraplegia 7
- p.Arg294Gly Single submitter
- p.Arg322= Single submitter
- p.Arg322Cys Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg322His Single submitter ⚠
- p.Arg333Cys Single submitter ⚠
- p.Arg389His Single submitter Inborn genetic diseases ⚠
- p.Arg389Leu Single submitter ⚠
- p.Arg417Cys Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg457= Single submitter
- p.Arg457Gln Single submitter ⚠
- p.Arg473Trp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg485Gly Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg486Trp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg508Cys Single submitter ⚠
- p.Arg551Cys Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg551His Single submitter ⚠
- p.Arg551Pro Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg612Gly Single submitter ⚠
- p.Arg625Gln Single submitter Inborn genetic diseases ⚠
- p.Arg625Trp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg633Gln Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg652Met Single submitter hereditary spastic paraplegia ⚠
- p.Arg656His Single submitter hereditary spastic paraplegia 7 ⚠
- p.Arg66Ile Single submitter Inborn genetic diseases ⚠
- p.Arg66Lys Single submitter ⚠
- p.Arg689His Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asn156_Ala157insAsn Single submitter hereditary spastic paraplegia 7
- p.Asn434Ser Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asn523Ile Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asn523Ser Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asn721Lys Single submitter hereditary spastic paraplegia 7
- p.Asn721Ser Single submitter ⚠
- p.Asn87Asp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp114Ala Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp135Glu Single submitter ⚠
- p.Asp169Asn Single submitter hereditary spastic paraplegia 7
- p.Asp408Gly Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp411Gly Single submitter ⚠
- p.Asp411His Single submitter ⚠
- p.Asp462Asn Single submitter ⚠
- p.Asp478_Thr481delinsAla Single submitter hereditary spastic paraplegia 7
- p.Asp649Asn Single submitter Inborn genetic diseases
- p.Asp700Asn Single submitter ⚠
- p.Asp700Gly Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp765His Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp772Glu Single submitter hereditary spastic paraplegia 7 ⚠
- p.Asp772Tyr Single submitter ⚠
- p.Cys403Ser Single submitter hereditary spastic paraplegia ⚠
- p.Cys525Arg Single submitter ⚠
- p.Cys627Arg Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gln108Arg Single submitter ⚠
- p.Gln184Arg Single submitter Inborn genetic diseases ⚠
- p.Gln435Arg Single submitter Inborn genetic diseases ⚠
- p.Gln608His Single submitter ⚠
- p.Gln621Glu Single submitter ⚠
- p.Gln64Glu Single submitter Inborn genetic diseases ⚠
- p.Gln64Leu Single submitter Inborn genetic diseases ⚠
- p.Gln64Pro Single submitter ⚠
- p.Gln664Pro Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gln719His Single submitter Inborn genetic diseases ⚠
- p.Gln726Glu Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gln761= Single submitter hereditary spastic paraplegia 7
- p.Gln761Ter Single submitter hereditary spastic paraplegia 7
- p.Gln767Glu Single submitter hereditary spastic paraplegia 7 ⚠
- p.Gln783Arg Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu125Asp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu132Ala Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu179Gln Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu179Lys Single submitter ⚠
- p.Glu232Asp Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu232Gln Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu236Lys Single submitter hereditary spastic paraplegia ⚠
- p.Glu316Gly Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu316Lys Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu323Lys Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu409Ala Single submitter ⚠
- p.Glu409Gly Single submitter ⚠
- p.Glu428Asp Single submitter ⚠
- p.Glu428Lys Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu439Lys Single submitter ⚠
- p.Glu487Ala Single submitter hereditary spastic paraplegia 7 ⚠
- p.Glu511Lys Single submitter
- p.Glu546Lys Single submitter ⚠
- p.Glu54Val Single submitter hereditary spastic paraplegia 7 ⚠