ARSI — 193 ClinVar variants
All ClinVar germline ARSI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →
4 Conflicting · 12 Benign · 3 Benign/Likely benign · 35 Likely benign · 139 Uncertain significance
Full ARSI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 135
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ARSI p.Arg246His
Conflicting
Single submitter
Spastic paraplegia
-
ARSI p.Arg336Gln
Conflicting
Single submitter
Spastic paraplegia
Predictors lean, ClinVar uncertain 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ARSI p.Ala259Val
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Ala414Ser
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Ala414Thr
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Ala78Thr
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg117Cys
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg283His
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg381Gln
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg420His
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg459His
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg474Pro
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Asn174Ser
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Asp366Asn
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Asp372Asn
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Gly16Ser
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Ser525Asn
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Thr386Ala
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Ala524Val
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Arg260Gln
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Arg260Trp Uncertain significance Single submitter
- ARSI p.Arg261Trp Uncertain significance Single submitter
-
ARSI p.Arg385Cys
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Arg385His Uncertain significance Single submitter
-
ARSI p.Arg385Leu
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Arg420Cys
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Arg459Pro
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Arg537Gln
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Arg543Ser Uncertain significance Single submitter
- ARSI p.Arg97Leu Uncertain significance Single submitter
-
ARSI p.Arg97Trp
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Asn257Ser
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Asn288Asp
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Asn298Ser Uncertain significance Single submitter
- ARSI p.Asp435Asn Uncertain significance Single submitter
-
ARSI p.Asp514Gly
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Gln38Leu
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Gly256Asp Uncertain significance Single submitter
-
ARSI p.Gly31Ala
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Gly33Ala Uncertain significance Single submitter
- ARSI p.Gly33Val Uncertain significance Single submitter
- ARSI p.Gly367Arg Uncertain significance Single submitter
- ARSI p.His239Tyr Uncertain significance Single submitter
- ARSI p.His330Gln Uncertain significance Single submitter
- ARSI p.Ile277Asn Uncertain significance Single submitter
- ARSI p.Leu4Phe Uncertain significance Single submitter
-
ARSI p.Met345Thr
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Phe235Leu Uncertain significance Single submitter
-
ARSI p.Pro125His
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Pro513Leu Uncertain significance Single submitter
- ARSI p.Pro91Ser Uncertain significance Single submitter
-
ARSI p.Ser204Asn
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Ser244Tyr Uncertain significance Single submitter
- ARSI p.Ser307Asn Uncertain significance Single submitter
-
ARSI p.Ser525Gly
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Thr353Asn
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Thr362Ile Uncertain significance Single submitter
-
ARSI p.Trp411Gly
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Val188Met Uncertain significance Single submitter
-
ARSI p.Val373Met
Uncertain significance
Single submitter
Spastic paraplegia
Predictors split 75
The independent predictors disagree with each other — read with care.
-
ARSI p.Ala216Thr
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Ala264Thr
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Ala399Asp
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg154Gln
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg154Trp
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg261Gln
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg283Cys
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg339Trp
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg474Gln
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg497His
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg541Trp
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg543His
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Arg544His
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Asp127Asn
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Gly367Val
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Lys83Thr
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Ser40Trp
Uncertain significance
Multiple submitters
Spastic paraplegia
-
ARSI p.Trp22Arg
Uncertain significance
Multiple submitters
Spastic paraplegia
- ARSI p.Ala213Thr Uncertain significance Single submitter
- ARSI p.Ala364Val Uncertain significance Single submitter
- ARSI p.Arg117His Uncertain significance Single submitter
-
ARSI p.Arg161His
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Arg227His
Conflicting
Single submitter
Spastic paraplegia
-
ARSI p.Arg246Cys
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Arg251Cys Uncertain significance Single submitter
- ARSI p.Arg253Cys Uncertain significance Single submitter
- ARSI p.Arg283Leu Uncertain significance Single submitter
-
ARSI p.Arg314Cys
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Arg336Leu Uncertain significance Single submitter
- ARSI p.Arg381Trp Uncertain significance Single submitter
-
ARSI p.Arg481Trp
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Arg486Cys
Uncertain significance
Single submitter
hereditary spastic paraplegia
-
ARSI p.Arg497Gly
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Arg503Cys Uncertain significance Single submitter
-
ARSI p.Arg510Trp
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Arg543Cys Uncertain significance Single submitter
-
ARSI p.Arg558Cys
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Asn391Ser Uncertain significance Single submitter
- ARSI p.Asn516Asp Uncertain significance Single submitter
-
ARSI p.Asp366Tyr
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Asp372His
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Gln128Lys Uncertain significance Single submitter
-
ARSI p.Gln136His
Likely benign
Single submitter
Spastic paraplegia
-
ARSI p.Gln416Pro
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Glu156Asp Uncertain significance Single submitter
-
ARSI p.Glu195Lys
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Glu379Lys
Conflicting
Single submitter
Spastic paraplegia
-
ARSI p.Glu532Lys
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Gly196Ser Uncertain significance Single submitter
-
ARSI p.Gly205Ser
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Gly285Ser Uncertain significance Single submitter
-
ARSI p.Gly306Ser
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Gly316Ser
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Gly31Trp
Benign
Single submitter
Spastic paraplegia
- ARSI p.Gly422Ser Uncertain significance Single submitter
- ARSI p.Gly521Glu Uncertain significance Single submitter
- ARSI p.Gly66Cys Uncertain significance Single submitter
- ARSI p.Ile377Val Uncertain significance Single submitter
- ARSI p.Ile467Leu Uncertain significance Single submitter
- ARSI p.Leu368Pro Uncertain significance Single submitter
-
ARSI p.Phe515Cys
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Pro43Gln Uncertain significance Single submitter
-
ARSI p.Pro501Leu
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Ser170Leu
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Ser222Gly Uncertain significance Single submitter
-
ARSI p.Ser468Gly
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Thr160Asn Uncertain significance Single submitter
- ARSI p.Thr386Met Uncertain significance Single submitter
- ARSI p.Tyr287Cys Uncertain significance Single submitter
- ARSI p.Tyr287Phe Uncertain significance Single submitter
-
ARSI p.Val323Met
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Val355Met
Uncertain significance
Single submitter
Spastic paraplegia
-
ARSI p.Val415Met
Uncertain significance
Single submitter
Spastic paraplegia
- ARSI p.Val421Met Uncertain significance Single submitter
-
ARSI p.Val62Met
Uncertain significance
Single submitter
Spastic paraplegia
All ARSI variants
Conflicting classifications of pathogenicity 4
- p.Arg227His Single submitter Spastic paraplegia ⚠
- p.Arg246His Single submitter Spastic paraplegia ⚠
- p.Arg336Gln Single submitter Spastic paraplegia ⚠
- p.Glu379Lys Single submitter Spastic paraplegia ⚠
Benign 12
- p.Ala365= Single submitter Spastic paraplegia
- p.Ala461= Single submitter Spastic paraplegia
- p.Asn298= Single submitter Spastic paraplegia
- p.Gly31Trp Single submitter Spastic paraplegia ⚠
- p.His223= Single submitter Spastic paraplegia
- p.Leu126= Single submitter Spastic paraplegia
- p.Leu135= Single submitter Spastic paraplegia
- p.Ser307= Single submitter Spastic paraplegia
- p.Ser403= Single submitter Spastic paraplegia
- p.Thr413= Single submitter Spastic paraplegia
- p.Tyr212= Single submitter Spastic paraplegia
- p.Val267= Single submitter Spastic paraplegia
Benign/Likely benign 3
Likely benign 35
- p.Leu77= Multiple submitters Spastic paraplegia
- p.Tyr284= Multiple submitters Spastic paraplegia
- c.311+13C>T Single submitter Spastic paraplegia
- p.Ala78= Single submitter Spastic paraplegia
- p.Asn276= Single submitter Spastic paraplegia
- p.Asn288= Single submitter Spastic paraplegia
- p.Asp127= Single submitter Spastic paraplegia
- p.Asp165= Single submitter Spastic paraplegia
- p.Asp176= Single submitter Spastic paraplegia
- p.Asp366= Single submitter Spastic paraplegia
- p.Asp372= Single submitter Spastic paraplegia
- p.Asp526= Single submitter Spastic paraplegia
- p.Cys189= Single submitter Spastic paraplegia
- p.Cys548= Single submitter Spastic paraplegia
- p.Gln136His Single submitter Spastic paraplegia ⚠
- p.Gln400Arg Single submitter
- p.Gly185= Single submitter Spastic paraplegia
- p.Gly406= Single submitter Spastic paraplegia
- p.Gly434= Single submitter
- p.Gly521= Single submitter Spastic paraplegia
- p.His194= Single submitter
- p.Phe191= Single submitter Spastic paraplegia
- p.Pro25= Single submitter
- p.Pro310= Single submitter Spastic paraplegia
- p.Pro375= Single submitter Spastic paraplegia
- p.Pro439= Single submitter
- p.Ser170= Single submitter Spastic paraplegia
- p.Ser204= Single submitter Spastic paraplegia
- p.Ser304= Single submitter
- p.Ser525= Single submitter Spastic paraplegia
- p.Thr386= Single submitter Spastic paraplegia
- p.Thr71= Single submitter Spastic paraplegia
- p.Tyr263= Single submitter Spastic paraplegia
- p.Tyr351= Single submitter Spastic paraplegia
- p.Ala41= No assertion criteria ARSI-related disorder
Uncertain significance 139
- p.Ala216Thr Multiple submitters Spastic paraplegia ⚠
- p.Ala259Val Multiple submitters Spastic paraplegia ⚠
- p.Ala264Thr Multiple submitters Spastic paraplegia ⚠
- p.Ala399Asp Multiple submitters Spastic paraplegia ⚠
- p.Ala414Ser Multiple submitters Spastic paraplegia ⚠
- p.Ala414Thr Multiple submitters Spastic paraplegia ⚠
- p.Ala78Thr Multiple submitters Spastic paraplegia ⚠
- p.Arg117Cys Multiple submitters Spastic paraplegia ⚠
- p.Arg154Gln Multiple submitters Spastic paraplegia ⚠
- p.Arg154Trp Multiple submitters Spastic paraplegia ⚠
- p.Arg261Gln Multiple submitters Spastic paraplegia ⚠
- p.Arg283Cys Multiple submitters Spastic paraplegia ⚠
- p.Arg283His Multiple submitters Spastic paraplegia ⚠
- p.Arg336Ter Multiple submitters Spastic paraplegia
- p.Arg339Trp Multiple submitters Spastic paraplegia ⚠
- p.Arg381Gln Multiple submitters Spastic paraplegia ⚠
- p.Arg420His Multiple submitters Spastic paraplegia ⚠
- p.Arg459His Multiple submitters Spastic paraplegia ⚠
- p.Arg474Gln Multiple submitters Spastic paraplegia ⚠
- p.Arg474Pro Multiple submitters Spastic paraplegia ⚠
- p.Arg497His Multiple submitters Spastic paraplegia ⚠
- p.Arg541Trp Multiple submitters Spastic paraplegia ⚠
- p.Arg543His Multiple submitters Spastic paraplegia ⚠
- p.Arg544His Multiple submitters Spastic paraplegia ⚠
- p.Asn174Ser Multiple submitters Spastic paraplegia ⚠
- p.Asp127Asn Multiple submitters Spastic paraplegia ⚠
- p.Asp366Asn Multiple submitters Spastic paraplegia ⚠
- p.Asp372Asn Multiple submitters Spastic paraplegia ⚠
- p.Gly16Ser Multiple submitters Spastic paraplegia ⚠
- p.Gly367Val Multiple submitters Spastic paraplegia ⚠
- p.Lys83Thr Multiple submitters Spastic paraplegia ⚠
- p.Ser40Trp Multiple submitters Spastic paraplegia ⚠
- p.Ser525Asn Multiple submitters Spastic paraplegia ⚠
- p.Thr386Ala Multiple submitters Spastic paraplegia ⚠
- p.Trp22Arg Multiple submitters Spastic paraplegia ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala364Val Single submitter ⚠
- p.Ala524Val Single submitter Spastic paraplegia ⚠
- p.Arg117His Single submitter ⚠
- p.Arg161His Single submitter Spastic paraplegia ⚠
- p.Arg246Cys Single submitter Spastic paraplegia ⚠
- p.Arg251Cys Single submitter ⚠
- p.Arg253Cys Single submitter ⚠
- p.Arg260Gln Single submitter Spastic paraplegia ⚠
- p.Arg260Trp Single submitter ⚠
- p.Arg261Trp Single submitter ⚠
- p.Arg283Leu Single submitter ⚠
- p.Arg312Ter Single submitter Spastic paraplegia
- p.Arg314Cys Single submitter Spastic paraplegia ⚠
- p.Arg336Leu Single submitter ⚠
- p.Arg381Trp Single submitter ⚠
- p.Arg385Cys Single submitter Spastic paraplegia ⚠
- p.Arg385His Single submitter ⚠
- p.Arg385Leu Single submitter Spastic paraplegia ⚠
- p.Arg420Cys Single submitter Spastic paraplegia ⚠
- p.Arg459Pro Single submitter Spastic paraplegia ⚠
- p.Arg481Trp Single submitter Spastic paraplegia ⚠
- p.Arg486Cys Single submitter hereditary spastic paraplegia ⚠
- p.Arg497Gly Single submitter Spastic paraplegia ⚠
- p.Arg503Cys Single submitter ⚠
- p.Arg510Trp Single submitter Spastic paraplegia ⚠
- p.Arg537Gln Single submitter Spastic paraplegia ⚠
- p.Arg543Cys Single submitter ⚠
- p.Arg543Ser Single submitter ⚠
- p.Arg554Ter Single submitter Spastic paraplegia
- p.Arg558Cys Single submitter Spastic paraplegia ⚠
- p.Arg97Leu Single submitter ⚠
- p.Arg97Trp Single submitter Spastic paraplegia ⚠
- p.Asn257Ser Single submitter Spastic paraplegia ⚠
- p.Asn288Asp Single submitter Spastic paraplegia ⚠
- p.Asn298Ser Single submitter ⚠
- p.Asn391Ser Single submitter ⚠
- p.Asn516Asp Single submitter ⚠
- p.Asp366Tyr Single submitter Spastic paraplegia ⚠
- p.Asp372His Single submitter Spastic paraplegia ⚠
- p.Asp435Asn Single submitter ⚠
- p.Asp514Gly Single submitter Spastic paraplegia ⚠
- p.Gln128Lys Single submitter ⚠
- p.Gln136Ter Single submitter Spastic paraplegia
- p.Gln214Ter Single submitter Spastic paraplegia
- p.Gln226Ter Single submitter Spastic paraplegia
- p.Gln38Leu Single submitter Spastic paraplegia ⚠
- p.Gln416Pro Single submitter Spastic paraplegia ⚠
- p.Glu156Asp Single submitter ⚠
- p.Glu195Lys Single submitter Spastic paraplegia ⚠
- p.Glu494Ter Single submitter Spastic paraplegia
- p.Glu532Lys Single submitter Spastic paraplegia ⚠
- p.Gly196Ser Single submitter ⚠
- p.Gly205Ser Single submitter Spastic paraplegia ⚠
- p.Gly256Asp Single submitter ⚠
- p.Gly285Ser Single submitter ⚠
- p.Gly306Ser Single submitter Spastic paraplegia ⚠
- p.Gly316Ser Single submitter Spastic paraplegia ⚠
- p.Gly31Ala Single submitter Spastic paraplegia ⚠
- p.Gly33Ala Single submitter ⚠
- p.Gly33Val Single submitter ⚠
- p.Gly367Arg Single submitter ⚠
- p.Gly422Ser Single submitter ⚠
- p.Gly521Glu Single submitter ⚠
- p.Gly66Cys Single submitter ⚠
- p.His239Tyr Single submitter ⚠
- p.His330Gln Single submitter ⚠
- p.Ile277Asn Single submitter ⚠
- p.Ile377Val Single submitter ⚠
- p.Ile467Leu Single submitter ⚠
- p.Leu368Pro Single submitter ⚠
- p.Leu4Phe Single submitter ⚠
- p.Met345Thr Single submitter Spastic paraplegia ⚠
- p.Phe235Leu Single submitter ⚠
- p.Phe303fs Single submitter Spastic paraplegia
- p.Phe515Cys Single submitter Spastic paraplegia ⚠
- p.Pro125His Single submitter Spastic paraplegia ⚠
- p.Pro43Gln Single submitter ⚠
- p.Pro501Leu Single submitter Spastic paraplegia ⚠
- p.Pro513Leu Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Ser170Leu Single submitter Spastic paraplegia ⚠
- p.Ser204Asn Single submitter Spastic paraplegia ⚠
- p.Ser222Gly Single submitter ⚠
- p.Ser244Tyr Single submitter ⚠
- p.Ser307Asn Single submitter ⚠
- p.Ser468Gly Single submitter Spastic paraplegia ⚠
- p.Ser525Gly Single submitter Spastic paraplegia ⚠
- p.Ser96Ter Single submitter Spastic paraplegia
- p.Thr160Asn Single submitter ⚠
- p.Thr353Asn Single submitter Spastic paraplegia ⚠
- p.Thr362Ile Single submitter ⚠
- p.Thr386Met Single submitter ⚠
- p.Trp411Gly Single submitter Spastic paraplegia ⚠
- p.Tyr287Cys Single submitter ⚠
- p.Tyr287Phe Single submitter ⚠
- p.Val188Met Single submitter ⚠
- p.Val323Met Single submitter Spastic paraplegia ⚠
- p.Val355Met Single submitter Spastic paraplegia ⚠
- p.Val373Met Single submitter Spastic paraplegia ⚠
- p.Val415Met Single submitter Spastic paraplegia ⚠
- p.Val421Met Single submitter ⚠
- p.Val62Met Single submitter Spastic paraplegia ⚠
- p.Cys548fs No assertion criteria