Sugi Variant

Sugi Variant/ARL6IP1

ARL6IP1 — 98 ClinVar variants

All ClinVar germline ARL6IP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →

4 Pathogenic · 3 Likely pathogenic · 1 Conflicting · 20 Benign · 1 Benign/Likely benign · 33 Likely benign · 36 Uncertain significance

Full ARL6IP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 30

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.

Predictors lean, ClinVar uncertain 24

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

Predictors split 5

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

All ARL6IP1 variants

Pathogenic 4

  • p.Arg116Ter Multiple submitters hereditary spastic paraplegia 61
  • p.Arg38Ter Multiple submitters hereditary spastic paraplegia 61
  • p.Leu67fs Single submitter hereditary spastic paraplegia 61
  • p.Leu31Pro No assertion criteria hereditary spastic paraplegia 61

Likely pathogenic 3

  • c.407_409-197del Single submitter hereditary spastic paraplegia 61
  • c.409-2A>G Single submitter hereditary spastic paraplegia 61
  • p.Lys193fs Single submitter hereditary spastic paraplegia 61

Conflicting classifications of pathogenicity 1

Benign 20

Benign/Likely benign 1

  • p.Ser68= Multiple submitters hereditary spastic paraplegia 61

Likely benign 33

  • c.494-18G>T Multiple submitters hereditary spastic paraplegia 61
  • c.170+15A>G Single submitter hereditary spastic paraplegia 61
  • c.171-9T>A Single submitter hereditary spastic paraplegia 61
  • c.291-18G>A Single submitter hereditary spastic paraplegia 61
  • c.36+11G>C Single submitter hereditary spastic paraplegia 61
  • c.36+13dup Single submitter hereditary spastic paraplegia 61
  • c.36+19T>A Single submitter hereditary spastic paraplegia 61
  • c.36+20C>T Single submitter hereditary spastic paraplegia 61
  • c.37-193dup Single submitter
  • c.37-20T>G Single submitter hereditary spastic paraplegia 61
  • c.408+12G>A Single submitter hereditary spastic paraplegia 61
  • c.408+17G>C Single submitter hereditary spastic paraplegia 61
  • c.409-86A>G Single submitter
  • c.494-14T>C Single submitter hereditary spastic paraplegia 61
  • c.494-17dup Single submitter hereditary spastic paraplegia 61
  • c.494-17T>G Single submitter hereditary spastic paraplegia 61
  • c.494-62dup Single submitter
  • c.494-9T>A Single submitter hereditary spastic paraplegia 61
  • p.Ala14= Single submitter hereditary spastic paraplegia 61
  • p.Ala2= Single submitter hereditary spastic paraplegia 61
  • p.Gln102= Single submitter hereditary spastic paraplegia 61
  • p.Gly185= Single submitter hereditary spastic paraplegia 61
  • p.Gly69= Single submitter hereditary spastic paraplegia 61
  • p.Ile59= Single submitter hereditary spastic paraplegia 61
  • p.Leu145= Single submitter hereditary spastic paraplegia 61
  • p.Leu163= Single submitter hereditary spastic paraplegia 61
  • p.Leu169= Single submitter hereditary spastic paraplegia 61
  • p.Leu170= Single submitter hereditary spastic paraplegia 61
  • p.Leu23= Single submitter hereditary spastic paraplegia 61
  • p.Lys130= Single submitter hereditary spastic paraplegia 61
  • p.Phe56= Single submitter hereditary spastic paraplegia 61
  • p.Thr115= Single submitter hereditary spastic paraplegia 61
  • p.Val143Ile Single submitter Inborn genetic diseases

Uncertain significance 36