MAG — 335 ClinVar variants
All ClinVar germline MAG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →
8 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 6 Conflicting · 17 Benign · 6 Benign/Likely benign · 121 Likely benign · 169 Uncertain significance
Full MAG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 159
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 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MAG p.Ala151Val
Conflicting
Single submitter
hereditary spastic paraplegia 75
Predictors lean, ClinVar uncertain 123
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
MAG p.Ala307Val
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Arg316Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Arg425Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Arg465His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Arg563Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Arg563His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Arg576His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Arg587Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Arg587Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Arg605Trp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Asn106Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Asn62Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Asp594Glu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Glu229Gln
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Glu374Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Gly216Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.His21Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Leu201Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Leu431Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Pro109Thr
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Pro147Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Pro380Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Ser39Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Ser549Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia
-
MAG p.Thr207Ala
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Thr334Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Thr607Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Val107Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Val134Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Val236Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Val556Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Ala210Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- MAG p.Ala210Val Uncertain significance Single submitter
-
MAG p.Ala251Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Ala298Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ala298Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ala422Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Ala424Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Ala443Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ala506Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ala53Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Arg169His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Arg190Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Arg401Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Arg43His
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Arg477Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Arg51Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
- MAG p.Arg563Leu Uncertain significance Single submitter
-
MAG p.Arg582Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Arg624Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Arg90His
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Asn125Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Asn223Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Asn406His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Asp386Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Asp426Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Asp561Asn
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Cys432Tyr
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Gln350Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gln535Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Gln79Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gln86Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Glu110Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Glu156Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Glu171Asp
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Glu286Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Glu299Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Glu372Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Glu385Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Glu569Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Glu572Lys
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Glu574Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gly119Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gly179Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gly181Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Gly194Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Gly19Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gly262Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Gly87Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gly87Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.His203Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.His203Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.His599Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MAG p.Ile12Val Uncertain significance Single submitter
-
MAG p.Ile14Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Ile345Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Leu103Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Leu226Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- MAG p.Leu379Pro Uncertain significance Single submitter
-
MAG p.Leu416Phe
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Leu583Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Leu593Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Lys604Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Met234Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Pro380Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Pro380Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Pro590Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ser105Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ser173Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ser265Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Ser419Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ser456Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ser463Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Ser463Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Ser466Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ser565Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Thr342Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Thr612Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Trp11Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Tyr116Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Tyr462Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Val134Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Val144Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
- MAG p.Val197Met Uncertain significance Single submitter
-
MAG p.Val199Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Val241Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Val241Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Val284Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Val433Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Val442Met
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Val469Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Val486Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Val530Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 35
The independent predictors disagree with each other — read with care.
-
MAG p.Ala490Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Arg77Leu
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Glu339Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Gly254Ser
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Lys237Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Ser84Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MAG p.Val521Gly
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 75
-
MAG p.Ala519Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Arg188Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Arg281Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Arg43Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Arg449Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Arg465Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Arg537Cys
Conflicting
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Arg77Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Arg90Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Asp120Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gly212Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Gly333Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Gly515Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Phe360Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Phe523Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Pro353Leu
Conflicting
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Pro64Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Pro66Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Pro71Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Ser547Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MAG p.Thr349Pro Uncertain significance Single submitter
-
MAG p.Trp25Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Tyr398Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Tyr611Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Tyr611His
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Tyr65His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MAG p.Val382Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 75
-
MAG p.Ser133Arg
Pathogenic
No assertion criteria
hereditary spastic paraplegia 75
All MAG variants
Pathogenic 8
- p.Arg425Ter Single submitter hereditary spastic paraplegia 75
- p.Gln376Ter Single submitter hereditary spastic paraplegia 75
- p.Glu110Ter Single submitter hereditary spastic paraplegia 75
- p.Trp174Ter Single submitter hereditary spastic paraplegia 75
- p.Val241fs Single submitter hereditary spastic paraplegia 75
- p.Cys430Gly No assertion criteria hereditary spastic paraplegia 75
- p.Gly113Arg No assertion criteria hereditary spastic paraplegia 75
- p.Ser133Arg No assertion criteria hereditary spastic paraplegia 75 ⚠
Pathogenic/Likely pathogenic 1
- p.Arg508Ter Multiple submitters hereditary spastic paraplegia 75
Likely pathogenic 7
- c.1231+3G>C Single submitter orofacial cleft 1
- c.1232-3_1240del Single submitter hereditary spastic paraplegia 75
- c.1520-3_1520-2del Single submitter hereditary spastic paraplegia 75
- c.1616+1G>A Single submitter hereditary spastic paraplegia 75
- c.416-6_418dup Single submitter
- p.Val157fs Single submitter hereditary spastic paraplegia 75
- p.Leu270Pro No assertion criteria hereditary spastic paraplegia 75
Conflicting classifications of pathogenicity 6
- c.971-5C>T Single submitter Inborn genetic diseases
- p.Ala151Val Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg537Cys Single submitter hereditary spastic paraplegia 75 ⚠
- p.Pro353Leu Single submitter hereditary spastic paraplegia 75 ⚠
- p.Ser200= Single submitter hereditary spastic paraplegia 75
- p.Ser573= Single submitter hereditary spastic paraplegia 75
Benign 17
- c.1232-115G>T Multiple submitters
- c.1232-57G>C Multiple submitters
- c.1519+157G>C Multiple submitters
- c.1617-163G>A Multiple submitters
- p.Asn553His Multiple submitters hereditary spastic paraplegia 75
- p.Glu154= Multiple submitters hereditary spastic paraplegia 75
- p.Ile137Val Multiple submitters hereditary spastic paraplegia 75
- p.Leu201= Multiple submitters
- p.Leu202Met Multiple submitters
- p.Ser133= Multiple submitters hereditary spastic paraplegia 75
- p.Thr403= Multiple submitters hereditary spastic paraplegia 75
- c.1231+225_1231+226del Single submitter
- c.1231+226del Single submitter
- c.47-17C>T Single submitter hereditary spastic paraplegia 75
- c.971-185C>T Single submitter
- p.Pro380= Single submitter hereditary spastic paraplegia 75
- p.Val322= Single submitter hereditary spastic paraplegia 75
Benign/Likely benign 6
- c.1617-17C>T Multiple submitters hereditary spastic paraplegia 75
- c.1716+18G>C Multiple submitters hereditary spastic paraplegia 75
- c.47-4G>T Multiple submitters hereditary spastic paraplegia 75
- c.971-4G>A Multiple submitters hereditary spastic paraplegia 75
- p.His82= Multiple submitters hereditary spastic paraplegia 75
- p.Ser600Leu Multiple submitters hereditary spastic paraplegia 75
Likely benign 121
- c.712+19GGGGCGGGGT[2] Multiple submitters hereditary spastic paraplegia 75
- p.Ala251= Multiple submitters hereditary spastic paraplegia 75
- p.Ala6= Multiple submitters hereditary spastic paraplegia 75
- p.Arg77His Multiple submitters hereditary spastic paraplegia 75
- p.Cys37= Multiple submitters hereditary spastic paraplegia 75
- p.Glu619= Multiple submitters hereditary spastic paraplegia 75
- p.Pro269= Multiple submitters hereditary spastic paraplegia 75
- p.Pro413= Multiple submitters hereditary spastic paraplegia 75
- p.Ser448= Multiple submitters hereditary spastic paraplegia 75
- p.Thr368Met Multiple submitters hereditary spastic paraplegia 75
- p.Thr427= Multiple submitters
- p.Thr5Met Multiple submitters hereditary spastic paraplegia 75
- p.Thr612= Multiple submitters hereditary spastic paraplegia 75
- p.Val257= Multiple submitters hereditary spastic paraplegia 75
- p.Val72= Multiple submitters hereditary spastic paraplegia 75
- c.1231+13C>T Single submitter hereditary spastic paraplegia 75
- c.1231+9C>A Single submitter hereditary spastic paraplegia 75
- c.1232-18C>A Single submitter hereditary spastic paraplegia 75
- c.1519+15C>G Single submitter hereditary spastic paraplegia 75
- c.1520-4T>G Single submitter hereditary spastic paraplegia 75
- c.1716+11G>A Single submitter hereditary spastic paraplegia 75
- c.1716+12G>C Single submitter hereditary spastic paraplegia 75
- c.1717-6T>A Single submitter hereditary spastic paraplegia 75
- c.1717-8C>T Single submitter hereditary spastic paraplegia 75
- c.415+14G>A Single submitter hereditary spastic paraplegia 75
- c.416-12C>G Single submitter hereditary spastic paraplegia 75
- c.416-12C>T Single submitter hereditary spastic paraplegia 75
- c.416-6G>A Single submitter hereditary spastic paraplegia 75
- c.46+20G>A Single submitter hereditary spastic paraplegia 75
- c.47-10T>G Single submitter hereditary spastic paraplegia 75
- c.47-13T>C Single submitter hereditary spastic paraplegia 75
- c.47-15C>T Single submitter hereditary spastic paraplegia 75
- c.47-16T>A Single submitter hereditary spastic paraplegia 75
- c.47-19C>T Single submitter hereditary spastic paraplegia 75
- c.712+15GGGCG[3] Single submitter hereditary spastic paraplegia 75
- c.712+15GGGCG[4] Single submitter hereditary spastic paraplegia 75
- c.712+18C>T Single submitter hereditary spastic paraplegia 75
- c.712+19GGGGCGGGGT[4] Single submitter hereditary spastic paraplegia 75
- c.713-4T>C Single submitter hereditary spastic paraplegia 75
- c.970+17G>A Single submitter hereditary spastic paraplegia 75
- c.970+18T>C Single submitter hereditary spastic paraplegia 75
- c.971-14G>A Single submitter hereditary spastic paraplegia 75
- c.971-15C>T Single submitter hereditary spastic paraplegia 75
- c.971-16C>G Single submitter hereditary spastic paraplegia 75
- c.971-4G>C Single submitter hereditary spastic paraplegia 75
- p.Ala283= Single submitter hereditary spastic paraplegia 75
- p.Ala337= Single submitter hereditary spastic paraplegia 75
- p.Ala381= Single submitter hereditary spastic paraplegia 75
- p.Ala394= Single submitter hereditary spastic paraplegia 75
- p.Ala490= Single submitter hereditary spastic paraplegia 75
- p.Ala519= Single submitter hereditary spastic paraplegia 75
- p.Arg18= Single submitter hereditary spastic paraplegia 75
- p.Arg188= Single submitter hereditary spastic paraplegia 75
- p.Arg214= Single submitter hereditary spastic paraplegia 75
- p.Arg51= Single submitter hereditary spastic paraplegia 75
- p.Arg605= Single submitter hereditary spastic paraplegia 75
- p.Asn106= Single submitter hereditary spastic paraplegia 75
- p.Asn406= Single submitter hereditary spastic paraplegia 75
- p.Asn492= Single submitter hereditary spastic paraplegia 75
- p.Asp276= Single submitter hereditary spastic paraplegia 75
- p.Cys305= Single submitter hereditary spastic paraplegia 75
- p.Cys432= Single submitter hereditary spastic paraplegia 75
- p.Gln227= Single submitter hereditary spastic paraplegia 75
- p.Gln364= Single submitter hereditary spastic paraplegia 75
- p.Gln479= Single submitter hereditary spastic paraplegia 75
- p.Glu229= Single submitter hereditary spastic paraplegia 75
- p.Glu286= Single submitter hereditary spastic paraplegia 75
- p.Glu439= Single submitter hereditary spastic paraplegia 75
- p.Glu544= Single submitter hereditary spastic paraplegia 75
- p.Gly122= Single submitter hereditary spastic paraplegia 75
- p.Gly152= Single submitter
- p.Gly179= Single submitter hereditary spastic paraplegia 75
- p.Gly277= Single submitter hereditary spastic paraplegia 75
- p.Gly319= Single submitter hereditary spastic paraplegia 75
- p.Gly566= Single submitter hereditary spastic paraplegia 75
- p.Gly585= Single submitter hereditary spastic paraplegia 75
- p.His420= Single submitter hereditary spastic paraplegia 75
- p.Ile40= Single submitter hereditary spastic paraplegia 75
- p.Ile529= Single submitter hereditary spastic paraplegia 75
- p.Leu186= Single submitter hereditary spastic paraplegia 75
- p.Leu50= Single submitter hereditary spastic paraplegia 75
- p.Leu557= Single submitter hereditary spastic paraplegia 75
- p.Leu617= Single submitter hereditary spastic paraplegia 75
- p.Phe204= Single submitter hereditary spastic paraplegia 75
- p.Phe460= Single submitter hereditary spastic paraplegia 75
- p.Pro109= Single submitter
- p.Pro162= Single submitter hereditary spastic paraplegia 75
- p.Pro353= Single submitter hereditary spastic paraplegia 75
- p.Pro384= Single submitter hereditary spastic paraplegia 75
- p.Pro438= Single submitter hereditary spastic paraplegia 75
- p.Pro440= Single submitter hereditary spastic paraplegia 75
- p.Pro483= Single submitter hereditary spastic paraplegia 75
- p.Pro555= Single submitter
- p.Pro590= Single submitter hereditary spastic paraplegia 75
- p.Pro591= Single submitter hereditary spastic paraplegia 75
- p.Pro71= Single submitter hereditary spastic paraplegia 75
- p.Ser348= Single submitter hereditary spastic paraplegia 75
- p.Ser351= Single submitter hereditary spastic paraplegia 75
- p.Ser373= Single submitter hereditary spastic paraplegia 75
- p.Ser560= Single submitter hereditary spastic paraplegia 75
- p.Ser596= Single submitter hereditary spastic paraplegia 75
- p.Ser76= Single submitter hereditary spastic paraplegia 75
- p.Thr207= Single submitter hereditary spastic paraplegia 75
- p.Thr224= Single submitter hereditary spastic paraplegia 75
- p.Thr272= Single submitter hereditary spastic paraplegia 75
- p.Thr358= Single submitter hereditary spastic paraplegia 75
- p.Thr452= Single submitter hereditary spastic paraplegia 75
- p.Thr5= Single submitter hereditary spastic paraplegia 75
- p.Thr614= Single submitter hereditary spastic paraplegia 75
- p.Tyr124= Single submitter hereditary spastic paraplegia 75
- p.Tyr371= Single submitter hereditary spastic paraplegia 75
- p.Tyr398= Single submitter
- p.Tyr462= Single submitter hereditary spastic paraplegia 75
- p.Val107= Single submitter hereditary spastic paraplegia 75
- p.Val241= Single submitter hereditary spastic paraplegia 75
- p.Val302Asp Single submitter hereditary spastic paraplegia 75
- p.Val343= Single submitter hereditary spastic paraplegia 75
- p.Val433Leu Single submitter hereditary spastic paraplegia 75
- p.Val451= Single submitter hereditary spastic paraplegia 75
- p.Val521= Single submitter hereditary spastic paraplegia 75
- p.Val81= Single submitter hereditary spastic paraplegia 75
Uncertain significance 169
- p.Ala307Val Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Ala490Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg316Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg425Gln Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Arg465His Multiple submitters Inborn genetic diseases ⚠
- p.Arg563Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg563His Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Arg576His Multiple submitters Inborn genetic diseases ⚠
- p.Arg587Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg587Trp Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Arg605Trp Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Arg77Leu Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Asn106Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn62Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp594Glu Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Glu229Gln Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Glu339Asp Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Glu374Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly216Cys Multiple submitters Inborn genetic diseases ⚠
- p.Gly254Ser Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.His21Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Leu201Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu431Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys237Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro109Thr Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Pro147Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro380Ser Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Ser39Phe Multiple submitters Inborn genetic diseases ⚠
- p.Ser549Leu Multiple submitters hereditary spastic paraplegia ⚠
- p.Ser84Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr207Ala Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Thr334Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr607Asn Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Val107Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val134Ile Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Val236Ile Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Val521Gly Multiple submitters hereditary spastic paraplegia 75 ⚠
- p.Val556Ile Multiple submitters hereditary spastic paraplegia 75 ⚠
- c.415+4A>C Single submitter hereditary spastic paraplegia 75
- c.46+5C>A Single submitter hereditary spastic paraplegia 75
- c.46+6G>A Single submitter hereditary spastic paraplegia 75
- c.970+3G>A Single submitter hereditary spastic paraplegia 75
- p.Ala210Asp Single submitter Inborn genetic diseases ⚠
- p.Ala210Val Single submitter ⚠
- p.Ala251Val Single submitter hereditary spastic paraplegia 75 ⚠
- p.Ala298Thr Single submitter Inborn genetic diseases ⚠
- p.Ala298Val Single submitter Inborn genetic diseases ⚠
- p.Ala422Val Single submitter hereditary spastic paraplegia 75 ⚠
- p.Ala424Thr Single submitter hereditary spastic paraplegia 75 ⚠
- p.Ala443Thr Single submitter Inborn genetic diseases ⚠
- p.Ala506Pro Single submitter Inborn genetic diseases ⚠
- p.Ala519Thr Single submitter Inborn genetic diseases ⚠
- p.Ala53Thr Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg169His Single submitter Inborn genetic diseases ⚠
- p.Arg188Trp Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg190Gln Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg281Trp Single submitter Inborn genetic diseases ⚠
- p.Arg401Lys Single submitter Inborn genetic diseases ⚠
- p.Arg43Cys Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg43His Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg449Pro Single submitter Inborn genetic diseases ⚠
- p.Arg465Cys Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg477Trp Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg508fs Single submitter hereditary spastic paraplegia 75
- p.Arg51Gln Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg563Leu Single submitter ⚠
- p.Arg582Lys Single submitter Inborn genetic diseases ⚠
- p.Arg624Trp Single submitter Inborn genetic diseases ⚠
- p.Arg77Ser Single submitter Inborn genetic diseases ⚠
- p.Arg90Cys Single submitter hereditary spastic paraplegia 75 ⚠
- p.Arg90His Single submitter hereditary spastic paraplegia 75 ⚠
- p.Asn125Ser Single submitter Inborn genetic diseases ⚠
- p.Asn223Ser Single submitter hereditary spastic paraplegia 75 ⚠
- p.Asn406His Single submitter Inborn genetic diseases ⚠
- p.Asp120Glu Single submitter Inborn genetic diseases ⚠
- p.Asp300Gly Single submitter hereditary spastic paraplegia 75
- p.Asp314Tyr Single submitter hereditary spastic paraplegia 75
- p.Asp386Asn Single submitter hereditary spastic paraplegia 75 ⚠
- p.Asp426Gly Single submitter Inborn genetic diseases ⚠
- p.Asp561Asn Single submitter hereditary spastic paraplegia 75 ⚠
- p.Cys432Tyr Single submitter hereditary spastic paraplegia 75 ⚠
- p.Gln350Arg Single submitter Inborn genetic diseases ⚠
- p.Gln535Glu Single submitter hereditary spastic paraplegia 75 ⚠
- p.Gln79Arg Single submitter Inborn genetic diseases ⚠
- p.Gln86Arg Single submitter Inborn genetic diseases ⚠
- p.Glu110Ala Single submitter hereditary spastic paraplegia 75 ⚠
- p.Glu156Asp Single submitter hereditary spastic paraplegia 75 ⚠
- p.Glu171Asp Single submitter hereditary spastic paraplegia 75 ⚠
- p.Glu286Lys Single submitter Inborn genetic diseases ⚠
- p.Glu299Asp Single submitter Inborn genetic diseases ⚠
- p.Glu372Lys Single submitter Inborn genetic diseases ⚠
- p.Glu385Lys Single submitter Inborn genetic diseases ⚠
- p.Glu410Lys Single submitter Inborn genetic diseases
- p.Glu569Lys Single submitter Inborn genetic diseases ⚠
- p.Glu572Lys Single submitter hereditary spastic paraplegia 75 ⚠
- p.Glu574Gln Single submitter Inborn genetic diseases ⚠
- p.Gly119Ala Single submitter Inborn genetic diseases ⚠
- p.Gly123Ser Single submitter hereditary spastic paraplegia 75
- p.Gly179Val Single submitter Inborn genetic diseases ⚠
- p.Gly181Trp Single submitter hereditary spastic paraplegia 75 ⚠
- p.Gly194Ser Single submitter hereditary spastic paraplegia 75 ⚠
- p.Gly19Ala Single submitter Inborn genetic diseases ⚠
- p.Gly212Ser Single submitter Inborn genetic diseases ⚠
- p.Gly262Glu Single submitter hereditary spastic paraplegia 75 ⚠
- p.Gly333Arg Single submitter hereditary spastic paraplegia 75 ⚠
- p.Gly35= Single submitter hereditary spastic paraplegia 75
- p.Gly515Arg Single submitter Inborn genetic diseases ⚠
- p.Gly87Ala Single submitter Inborn genetic diseases ⚠
- p.Gly87Arg Single submitter Inborn genetic diseases ⚠
- p.His203Arg Single submitter hereditary spastic paraplegia 75 ⚠
- p.His203Gln Single submitter Inborn genetic diseases ⚠
- p.His599Pro Single submitter Inborn genetic diseases ⚠
- p.Ile12Val Single submitter ⚠
- p.Ile14Val Single submitter hereditary spastic paraplegia 75 ⚠
- p.Ile345Val Single submitter Inborn genetic diseases ⚠
- p.Ile529_Val530insLeuIleAlaIle Single submitter hereditary spastic paraplegia 75
- p.Leu103Gln Single submitter Inborn genetic diseases ⚠
- p.Leu226Gln Single submitter Inborn genetic diseases ⚠
- p.Leu379Pro Single submitter ⚠
- p.Leu416Phe Single submitter hereditary spastic paraplegia 75 ⚠
- p.Leu583Met Single submitter Inborn genetic diseases ⚠
- p.Leu593Val Single submitter hereditary spastic paraplegia 75 ⚠
- p.Lys604Arg Single submitter hereditary spastic paraplegia 75 ⚠
- p.Met234Val Single submitter Inborn genetic diseases ⚠
- p.Phe360Cys Single submitter Inborn genetic diseases ⚠
- p.Phe523Ser Single submitter hereditary spastic paraplegia 75 ⚠
- p.Pro380Arg Single submitter hereditary spastic paraplegia 75 ⚠
- p.Pro380Leu Single submitter Inborn genetic diseases ⚠
- p.Pro590Thr Single submitter Inborn genetic diseases ⚠
- p.Pro64Ser Single submitter Inborn genetic diseases ⚠
- p.Pro66Ala Single submitter Inborn genetic diseases ⚠
- p.Pro71Leu Single submitter Inborn genetic diseases ⚠
- p.Ser105Arg Single submitter Inborn genetic diseases ⚠
- p.Ser173Asn Single submitter Inborn genetic diseases ⚠
- p.Ser233Arg Single submitter hereditary spastic paraplegia 75
- p.Ser265Arg Single submitter hereditary spastic paraplegia 75 ⚠
- p.Ser419Thr Single submitter Inborn genetic diseases ⚠
- p.Ser456Arg Single submitter Inborn genetic diseases ⚠
- p.Ser463Ala Single submitter hereditary spastic paraplegia 75 ⚠
- p.Ser463Leu Single submitter hereditary spastic paraplegia 75 ⚠
- p.Ser466Arg Single submitter Inborn genetic diseases ⚠
- p.Ser547Arg Single submitter Inborn genetic diseases ⚠
- p.Ser565Ala Single submitter Inborn genetic diseases ⚠
- p.Thr296Pro Single submitter Inborn genetic diseases
- p.Thr342Met Single submitter hereditary spastic paraplegia 75 ⚠
- p.Thr349Pro Single submitter ⚠
- p.Thr612Met Single submitter hereditary spastic paraplegia 75 ⚠
- p.Trp11Cys Single submitter Inborn genetic diseases ⚠
- p.Trp25Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr116Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr398Cys Single submitter hereditary spastic paraplegia 75 ⚠
- p.Tyr462Ser Single submitter Inborn genetic diseases ⚠
- p.Tyr611Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr611His Single submitter hereditary spastic paraplegia 75 ⚠
- p.Tyr65His Single submitter Inborn genetic diseases ⚠
- p.Val134Ala Single submitter Inborn genetic diseases ⚠
- p.Val144Leu Single submitter hereditary spastic paraplegia 75 ⚠
- p.Val161Leu Single submitter hereditary spastic paraplegia 75
- p.Val197Met Single submitter ⚠
- p.Val199Leu Single submitter Inborn genetic diseases ⚠
- p.Val241Glu Single submitter Inborn genetic diseases ⚠
- p.Val241Met Single submitter Inborn genetic diseases ⚠
- p.Val284Met Single submitter hereditary spastic paraplegia 75 ⚠
- p.Val382Leu Single submitter hereditary spastic paraplegia 75 ⚠
- p.Val433Met Single submitter hereditary spastic paraplegia 75 ⚠
- p.Val442Met Single submitter hereditary spastic paraplegia 75 ⚠
- p.Val469Leu Single submitter hereditary spastic paraplegia 75 ⚠
- p.Val486Ile Single submitter hereditary spastic paraplegia 75 ⚠
- p.Val530Ile Single submitter Inborn genetic diseases ⚠