NT5C2 — 278 ClinVar variants
All ClinVar germline NT5C2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
17 Pathogenic · 5 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 3 Conflicting · 35 Benign · 5 Benign/Likely benign · 113 Likely benign · 91 Uncertain significance
Full NT5C2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 lean, ClinVar uncertain 60
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NT5C2 p.Ala540Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Arg28His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Asp229His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 45
-
NT5C2 p.Asp459Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Gln453His
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 45
-
NT5C2 p.Gln84Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Glu391Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Glu555Asp
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 45
-
NT5C2 p.His380Arg
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 45
-
NT5C2 p.His522Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Met430Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Thr510Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Ala23Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Ala462Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Ala463Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Ala540Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Arg149Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Arg195Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Arg291Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Arg291Trp
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Arg303Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Arg363Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Arg456His
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Arg509Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Arg521Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
NT5C2 p.Arg526Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Arg76Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Asn174His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Asp170Gly
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Asp206His
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Asp415Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Asp496His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Gln10Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Gln420Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Glu550Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Glu75Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Gly184Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.His323Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Ile528Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Ile531Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Lys254Arg
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Lys47Glu
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Lys520Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Met15Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Met15Thr
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Met15Val
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Met19Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
- NT5C2 p.Phe36Leu Uncertain significance Single submitter
-
NT5C2 p.Ser281Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Ser328Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Ser439Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Ser93Pro
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Thr261Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Thr510Ile
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Thr97Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Tyr137Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Tyr317Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Tyr470His
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Val226Ala
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Val242Leu
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
Predictors split 9
The independent predictors disagree with each other — read with care.
-
NT5C2 p.Lys47Asn
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 45
-
NT5C2 p.Val326Ile
Uncertain significance
Multiple submitters
hereditary spastic paraplegia 45
-
NT5C2 p.Val78Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NT5C2 p.Arg422Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Asn158Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Glu241Gln
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Glu44Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NT5C2 p.Gly69Ser
Uncertain significance
Single submitter
hereditary spastic paraplegia 45
-
NT5C2 p.Pro233Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All NT5C2 variants
Pathogenic 17
- p.Arg39Ter Multiple submitters hereditary spastic paraplegia 45
- c.175+1G>A Single submitter hereditary spastic paraplegia 45
- p.Arg29Ter Single submitter hereditary spastic paraplegia 45
- p.Arg76fs Single submitter hereditary spastic paraplegia 45
- p.Gln199Ter Single submitter hereditary spastic paraplegia 45
- p.Gln542fs Single submitter hereditary spastic paraplegia 45
- p.Leu468Pro Single submitter hereditary spastic paraplegia 45
- p.Lys385fs Single submitter hereditary spastic paraplegia 45
- p.Thr173fs Single submitter hereditary spastic paraplegia 45
- p.Tyr210fs Single submitter hereditary spastic paraplegia 45
- p.Tyr225Ter Single submitter hereditary spastic paraplegia 45
- p.Tyr457Ter Single submitter hereditary spastic paraplegia 45
- c.1159+2T>G No assertion criteria hereditary spastic paraplegia 45
- c.771+573_814-298del No assertion criteria hereditary spastic paraplegia 45
- c.989-1G>T No assertion criteria hereditary spastic paraplegia 45
- p.Arg149Ter No assertion criteria hereditary spastic paraplegia 45
- p.Ser409fs No assertion criteria hereditary spastic paraplegia 45
Pathogenic/Likely pathogenic 5
- c.1449+2T>C Multiple submitters NT5C2-related disorder
- p.Arg144Ter Multiple submitters NT5C2-related disorder
- p.Arg367Ter Multiple submitters hereditary spastic paraplegia 45
- p.Leu105fs Multiple submitters hereditary spastic paraplegia 45
- p.Leu370fs Multiple submitters hereditary spastic paraplegia 45
Likely pathogenic 9
- c.1272+1G>C Single submitter hereditary spastic paraplegia 45
- c.175+1G>C Single submitter NT5C2-related disorder
- c.176-2A>G Single submitter hereditary spastic paraplegia 45
- c.539+1G>T Single submitter hereditary spastic paraplegia 45
- c.771+1G>A Single submitter hereditary spastic paraplegia 45
- p.Arg413fs Single submitter NT5C2-related disorder
- p.His486Asn Single submitter hereditary spastic paraplegia 45
- p.Val169del Single submitter
- p.Phe369Ser No assertion criteria hereditary spastic paraplegia 45
Conflicting classifications of pathogenicity 3
- c.176-10C>T Single submitter hereditary spastic paraplegia 45
- c.540-4G>A Single submitter Inborn genetic diseases
- p.Glu561del Single submitter hereditary spastic paraplegia 45
Benign 35
- c.1160-24C>A Multiple submitters
- c.1160-28C>T Multiple submitters
- c.1211+20C>A Multiple submitters hereditary spastic paraplegia 45
- c.1211+36C>T Multiple submitters
- c.1212-82T>C Multiple submitters
- c.1272+61C>T Multiple submitters
- c.1272+73T>G Multiple submitters
- c.1273-24A>C Multiple submitters
- c.1273-25G>A Multiple submitters
- c.688-103G>T Multiple submitters
- c.688-87T>G Multiple submitters
- c.813+26C>T Multiple submitters
- c.813+40A>G Multiple submitters
- c.988+226T>A Multiple submitters
- c.-168-27T>A Multiple submitters
- c.-183G>C Multiple submitters
- p.Asp549= Multiple submitters hereditary spastic paraplegia 45
- c.101+217_101+218del Single submitter
- c.1159+232_1159+236dup Single submitter
- c.1159+248C>T Single submitter
- c.1211+202dup Single submitter
- c.1272+68_1272+71del Single submitter
- c.293+284G>A Single submitter
- c.390-189del Single submitter
- c.390-203dup Single submitter
- c.540-277A>T Single submitter
- c.634-13dup Single submitter hereditary spastic paraplegia 45
- c.688-75del Single submitter
- c.771+282_771+283del Single submitter
- c.772-5del Single submitter hereditary spastic paraplegia 45
- c.921+89dup Single submitter
- c.989-224T>C Single submitter
- c.-168-8dup Single submitter
- c.-24-213G>A Single submitter
- c.175+3085A>T No assertion criteria NT5C2-related disorder
Benign/Likely benign 5
- c.634-14T>G Multiple submitters hereditary spastic paraplegia 45
- c.771+18A>T Multiple submitters hereditary spastic paraplegia 45
- c.921+18T>G Multiple submitters hereditary spastic paraplegia 45
- p.Lys359= Multiple submitters hereditary spastic paraplegia 45
- p.Thr3Ala Multiple submitters hereditary spastic paraplegia 45
Likely benign 113
- c.102-4A>G Multiple submitters hereditary spastic paraplegia 45
- c.176-15C>T Multiple submitters hereditary spastic paraplegia 45
- c.634-16T>C Multiple submitters hereditary spastic paraplegia 45
- c.772-20T>C Multiple submitters hereditary spastic paraplegia 45
- c.772-9T>A Multiple submitters hereditary spastic paraplegia 45
- c.814-50C>T Multiple submitters
- c.-24-99G>A Multiple submitters
- p.Arg363= Multiple submitters hereditary spastic paraplegia 45
- p.Glu554= Multiple submitters hereditary spastic paraplegia 45
- p.Glu557= Multiple submitters hereditary spastic paraplegia 45
- p.His352= Multiple submitters hereditary spastic paraplegia 45
- p.Ile325= Multiple submitters
- p.Leu375= Multiple submitters hereditary spastic paraplegia 45
- p.Leu469= Multiple submitters hereditary spastic paraplegia 45
- p.Phe441= Multiple submitters hereditary spastic paraplegia 45
- p.Ser67= Multiple submitters hereditary spastic paraplegia 45
- p.Ter562= Multiple submitters hereditary spastic paraplegia 45
- p.Thr334= Multiple submitters hereditary spastic paraplegia 45
- p.Tyr255= Multiple submitters hereditary spastic paraplegia 45
- c.101+16A>G Single submitter hereditary spastic paraplegia 45
- c.1159+137del Single submitter
- c.1159+16A>G Single submitter hereditary spastic paraplegia 45
- c.1160-13A>C Single submitter hereditary spastic paraplegia 45
- c.1160-14C>T Single submitter
- c.1160-18C>T Single submitter hereditary spastic paraplegia 45
- c.1160-20T>C Single submitter hereditary spastic paraplegia 45
- c.1160-4C>T Single submitter hereditary spastic paraplegia 45
- c.1211+16A>G Single submitter hereditary spastic paraplegia 45
- c.1211+197G>A Single submitter
- c.1211+8T>A Single submitter hereditary spastic paraplegia 45
- c.1212-13_1212-12del Single submitter hereditary spastic paraplegia 45
- c.1212-13_1212-9del Single submitter hereditary spastic paraplegia 45
- c.1212-142C>T Single submitter
- c.1212-21_1212-19dup Single submitter hereditary spastic paraplegia 45
- c.1212-8_1212-6dup Single submitter hereditary spastic paraplegia 45
- c.1273-4T>C Single submitter hereditary spastic paraplegia 45
- c.1273-7_1273-4del Single submitter hereditary spastic paraplegia 45
- c.1273-7_1273-4dup Single submitter hereditary spastic paraplegia 45
- c.1273-9_1273-8del Single submitter hereditary spastic paraplegia 45
- c.1449+13T>A Single submitter hereditary spastic paraplegia 45
- c.1449+18T>A Single submitter hereditary spastic paraplegia 45
- c.1450-16G>C Single submitter hereditary spastic paraplegia 45
- c.1450-8C>G Single submitter hereditary spastic paraplegia 45
- c.175+19T>C Single submitter hereditary spastic paraplegia 45
- c.176-19A>G Single submitter hereditary spastic paraplegia 45
- c.293+13G>T Single submitter hereditary spastic paraplegia 45
- c.389+10G>C Single submitter
- c.389+15C>T Single submitter hereditary spastic paraplegia 45
- c.389+328T>G Single submitter
- c.390-118C>T Single submitter
- c.390-15A>C Single submitter hereditary spastic paraplegia 45
- c.481+11T>C Single submitter hereditary spastic paraplegia 45
- c.481+59T>C Single submitter
- c.481+8C>T Single submitter hereditary spastic paraplegia 45
- c.539+15T>C Single submitter hereditary spastic paraplegia 45
- c.633+14G>A Single submitter
- c.634-14T>C Single submitter
- c.634-151G>A Single submitter
- c.634-19T>C Single submitter hereditary spastic paraplegia 45
- c.634-25_634-19dup Single submitter hereditary spastic paraplegia 45
- c.634-6C>T Single submitter hereditary spastic paraplegia 45
- c.634-89G>A Single submitter
- c.687+14G>A Single submitter hereditary spastic paraplegia 45
- c.687+169_687+170insT Single submitter
- c.813+14C>T Single submitter hereditary spastic paraplegia 45
- c.813+18A>G Single submitter hereditary spastic paraplegia 45
- c.813+19T>C Single submitter hereditary spastic paraplegia 45
- c.814-10C>T Single submitter hereditary spastic paraplegia 45
- c.814-20T>A Single submitter hereditary spastic paraplegia 45
- c.814-232A>C Single submitter
- c.814-9C>T Single submitter
- c.-24-17A>G Single submitter
- p.Ala166= Single submitter hereditary spastic paraplegia 45
- p.Ala451= Single submitter hereditary spastic paraplegia 45
- p.Ala463= Single submitter
- p.Ala540= Single submitter hereditary spastic paraplegia 45
- p.Asp113= Single submitter hereditary spastic paraplegia 45
- p.Asp146= Single submitter hereditary spastic paraplegia 45
- p.Asp206= Single submitter hereditary spastic paraplegia 45
- p.Gln136Arg Single submitter hereditary spastic paraplegia 45
- p.Gln542= Single submitter hereditary spastic paraplegia 45
- p.Glu412= Single submitter hereditary spastic paraplegia 45
- p.Glu491= Single submitter hereditary spastic paraplegia 45
- p.Glu556= Single submitter hereditary spastic paraplegia 45
- p.Glu558= Single submitter hereditary spastic paraplegia 45
- p.Glu559= Single submitter hereditary spastic paraplegia 45
- p.Gly273= Single submitter hereditary spastic paraplegia 45
- p.His123= Single submitter hereditary spastic paraplegia 45
- p.His494= Single submitter hereditary spastic paraplegia 45
- p.His548= Single submitter hereditary spastic paraplegia 45
- p.Ile314= Single submitter hereditary spastic paraplegia 45
- p.Leu100= Single submitter hereditary spastic paraplegia 45
- p.Leu110= Single submitter hereditary spastic paraplegia 45
- p.Leu287= Single submitter hereditary spastic paraplegia 45
- p.Leu321= Single submitter hereditary spastic paraplegia 45
- p.Leu347= Single submitter hereditary spastic paraplegia 45
- p.Leu524= Single submitter hereditary spastic paraplegia 45
- p.Phe191= Single submitter
- p.Phe283= Single submitter
- p.Pro270= Single submitter hereditary spastic paraplegia 45
- p.Ser408= Single submitter hereditary spastic paraplegia 45
- p.Ser88= Single submitter hereditary spastic paraplegia 45
- p.Thr155= Single submitter hereditary spastic paraplegia 45
- p.Thr162= Single submitter hereditary spastic paraplegia 45
- p.Thr179= Single submitter hereditary spastic paraplegia 45
- p.Thr383= Single submitter hereditary spastic paraplegia 45
- p.Thr489= Single submitter hereditary spastic paraplegia 45
- p.Thr73= Single submitter hereditary spastic paraplegia 45
- p.Tyr348= Single submitter hereditary spastic paraplegia 45
- p.Tyr471= Single submitter hereditary spastic paraplegia 45
- p.Val112= Single submitter hereditary spastic paraplegia 45
- p.Val219Ala Single submitter hereditary spastic paraplegia 45
- p.Val512= No assertion criteria NT5C2-related disorder
Uncertain significance 91
- c.176-11T>A Multiple submitters hereditary spastic paraplegia 45
- c.390-3C>T Multiple submitters hereditary spastic paraplegia 45
- p.Ala540Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg28His Multiple submitters Inborn genetic diseases ⚠
- p.Asp229His Multiple submitters hereditary spastic paraplegia 45 ⚠
- p.Asp459Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gln453His Multiple submitters hereditary spastic paraplegia 45 ⚠
- p.Gln84Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu391Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu555Asp Multiple submitters hereditary spastic paraplegia 45 ⚠
- p.Glu560_Glu561del Multiple submitters hereditary spastic paraplegia 45
- p.His380Arg Multiple submitters hereditary spastic paraplegia 45 ⚠
- p.His522Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Lys47Asn Multiple submitters hereditary spastic paraplegia 45 ⚠
- p.Met430Thr Multiple submitters Inborn genetic diseases ⚠
- p.Thr510Pro Multiple submitters Inborn genetic diseases ⚠
- p.Val326Ile Multiple submitters hereditary spastic paraplegia 45 ⚠
- p.Val78Ile Multiple submitters Inborn genetic diseases ⚠
- c.175+3086_175+3087del Single submitter hereditary spastic paraplegia 45
- c.176-7T>G Single submitter hereditary spastic paraplegia 45
- c.389+294T>G Single submitter hereditary spastic paraplegia 45
- c.389+349G>A Single submitter
- c.390-10T>G Single submitter hereditary spastic paraplegia
- c.481+6T>G Single submitter hereditary spastic paraplegia 45
- c.539+5_539+8del Single submitter hereditary spastic paraplegia 45
- c.813+6G>A Single submitter hereditary spastic paraplegia 45
- c.814-5_831del Single submitter
- c.814-5A>G Single submitter Inborn genetic diseases
- c.988+5G>C Single submitter hereditary spastic paraplegia 45
- c.989-13T>G Single submitter hereditary spastic paraplegia 45
- p.Ala23Val Single submitter Inborn genetic diseases ⚠
- p.Ala462Val Single submitter hereditary spastic paraplegia 45 ⚠
- p.Ala463Ser Single submitter Inborn genetic diseases ⚠
- p.Ala540Thr Single submitter hereditary spastic paraplegia 45 ⚠
- p.Arg149Gly Single submitter hereditary spastic paraplegia 45 ⚠
- p.Arg195Trp Single submitter Inborn genetic diseases ⚠
- p.Arg291Gln Single submitter Inborn genetic diseases ⚠
- p.Arg291Trp Single submitter hereditary spastic paraplegia 45 ⚠
- p.Arg303Cys Single submitter Inborn genetic diseases ⚠
- p.Arg363Trp Single submitter Inborn genetic diseases ⚠
- p.Arg422Cys Single submitter Inborn genetic diseases ⚠
- p.Arg456His Single submitter hereditary spastic paraplegia 45 ⚠
- p.Arg509Cys Single submitter Inborn genetic diseases ⚠
- p.Arg521Gln Single submitter hereditary spastic paraplegia ⚠
- p.Arg526Trp Single submitter Inborn genetic diseases ⚠
- p.Arg76Thr Single submitter hereditary spastic paraplegia 45 ⚠
- p.Asn158Ser Single submitter Inborn genetic diseases ⚠
- p.Asn174His Single submitter Inborn genetic diseases ⚠
- p.Asp170Gly Single submitter hereditary spastic paraplegia 45 ⚠
- p.Asp206His Single submitter hereditary spastic paraplegia 45 ⚠
- p.Asp415Asn Single submitter Inborn genetic diseases ⚠
- p.Asp496His Single submitter Inborn genetic diseases ⚠
- p.Gln10Glu Single submitter hereditary spastic paraplegia 45 ⚠
- p.Gln364Glu Single submitter hereditary spastic paraplegia 45
- p.Gln420Arg Single submitter hereditary spastic paraplegia 45 ⚠
- p.Glu241Gln Single submitter hereditary spastic paraplegia 45 ⚠
- p.Glu44Gly Single submitter Inborn genetic diseases ⚠
- p.Glu550Asp Single submitter Inborn genetic diseases ⚠
- p.Glu560_Glu561del Single submitter hereditary spastic paraplegia 45
- p.Glu561_Ter562insGlu Single submitter hereditary spastic paraplegia 45
- p.Glu561_Ter562insGluGlu Single submitter hereditary spastic paraplegia 45
- p.Glu75Gln Single submitter hereditary spastic paraplegia 45 ⚠
- p.Gly184Arg Single submitter Inborn genetic diseases ⚠
- p.Gly69Ser Single submitter hereditary spastic paraplegia 45 ⚠
- p.His323Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile528Val Single submitter hereditary spastic paraplegia 45 ⚠
- p.Ile531Val Single submitter Inborn genetic diseases ⚠
- p.Leu100Val Single submitter Inborn genetic diseases
- p.Leu109Val Single submitter hereditary spastic paraplegia 45
- p.Lys254Arg Single submitter hereditary spastic paraplegia 45 ⚠
- p.Lys47Glu Single submitter hereditary spastic paraplegia 45 ⚠
- p.Lys520Arg Single submitter Inborn genetic diseases ⚠
- p.Met15Leu Single submitter Inborn genetic diseases ⚠
- p.Met15Thr Single submitter hereditary spastic paraplegia 45 ⚠
- p.Met15Val Single submitter hereditary spastic paraplegia 45 ⚠
- p.Met19Ile Single submitter hereditary spastic paraplegia 45 ⚠
- p.Phe36Leu Single submitter ⚠
- p.Pro233Leu Single submitter Inborn genetic diseases ⚠
- p.Ser281Pro Single submitter Inborn genetic diseases ⚠
- p.Ser328Pro Single submitter hereditary spastic paraplegia 45 ⚠
- p.Ser439Asn Single submitter Inborn genetic diseases ⚠
- p.Ser93Pro Single submitter hereditary spastic paraplegia 45 ⚠
- p.Thr261Ser Single submitter hereditary spastic paraplegia 45 ⚠
- p.Thr510Ile Single submitter hereditary spastic paraplegia 45 ⚠
- p.Thr97Ala Single submitter hereditary spastic paraplegia 45 ⚠
- p.Tyr137Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr317Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr470Cys Single submitter Inborn genetic diseases
- p.Tyr470His Single submitter hereditary spastic paraplegia 45 ⚠
- p.Val226Ala Single submitter hereditary spastic paraplegia 45 ⚠
- p.Val242Leu Single submitter hereditary spastic paraplegia 45 ⚠