Sugi Variant

Sugi Variant/ENTPD1

ENTPD1 — 251 ClinVar variants

All ClinVar germline ENTPD1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 102 flagged for review →

10 Pathogenic · 7 Likely pathogenic · 11 Conflicting · 23 Benign · 2 Benign/Likely benign · 89 Likely benign · 109 Uncertain significance

Full ENTPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 102

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 5

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

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.

Predictors split 39

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

All ENTPD1 variants

Pathogenic 10

  • p.Tyr287Ter Multiple submitters hereditary spastic paraplegia 64
  • p.Gln323Ter Single submitter hereditary spastic paraplegia 64
  • p.Gly257fs Single submitter hereditary spastic paraplegia 64
  • p.Leu370Ter Single submitter hereditary spastic paraplegia 64
  • p.Leu62Ter Single submitter
  • p.Tyr340Ter Single submitter hereditary spastic paraplegia 64
  • p.Gln392Ter No assertion criteria hereditary spastic paraplegia 64
  • p.Glu174Ter No assertion criteria hereditary spastic paraplegia 64
  • p.Gly210Arg No assertion criteria hereditary spastic paraplegia 64
  • p.Gly216fs No assertion criteria hereditary spastic paraplegia 64

Likely pathogenic 7

  • c.144+1G>A Single submitter hereditary spastic paraplegia 64
  • c.17-2A>G Single submitter hereditary spastic paraplegia 64
  • c.262+1G>T Single submitter hereditary spastic paraplegia 64
  • c.574-6_574-3del Single submitter hereditary spastic paraplegia 64
  • c.813+2C>G Single submitter hereditary spastic paraplegia 64
  • p.Glu153fs Single submitter hereditary spastic paraplegia 64
  • p.Tyr340fs No assertion criteria ENTPD1-related disorder

Conflicting classifications of pathogenicity 11

Benign 23

Benign/Likely benign 2

  • p.Ile498= Multiple submitters hereditary spastic paraplegia
  • p.Tyr340= Multiple submitters hereditary spastic paraplegia 64

Likely benign 89

  • c.17-26T>C Multiple submitters
  • c.573+136G>T Multiple submitters
  • c.-131T>C Multiple submitters
  • p.Gly355= Multiple submitters hereditary spastic paraplegia 64
  • p.Tyr401= Multiple submitters hereditary spastic paraplegia 64
  • p.Tyr418= Multiple submitters hereditary spastic paraplegia 64
  • c.1074+15T>C Single submitter hereditary spastic paraplegia 64
  • c.1075-15G>A Single submitter hereditary spastic paraplegia 64
  • c.1075-16C>T Single submitter hereditary spastic paraplegia 64
  • c.1075-5T>C Single submitter hereditary spastic paraplegia 64
  • c.1188+16CAG[3] Single submitter hereditary spastic paraplegia 64
  • c.1188+7G>A Single submitter
  • c.1189-17C>T Single submitter hereditary spastic paraplegia 64
  • c.1326+14C>A Single submitter hereditary spastic paraplegia 64
  • c.1326+16G>T Single submitter hereditary spastic paraplegia 64
  • c.1326+7del Single submitter hereditary spastic paraplegia 64
  • c.1326+9G>A Single submitter hereditary spastic paraplegia 64
  • c.1327-13C>T Single submitter hereditary spastic paraplegia 64
  • c.144+10A>G Single submitter hereditary spastic paraplegia 64
  • c.144+16C>A Single submitter hereditary spastic paraplegia 64
  • c.145-11del Single submitter hereditary spastic paraplegia 64
  • c.145-11G>A Single submitter hereditary spastic paraplegia 64
  • c.145-13G>A Single submitter hereditary spastic paraplegia 64
  • c.16+13T>C Single submitter hereditary spastic paraplegia 64
  • c.16+9A>C Single submitter hereditary spastic paraplegia 64
  • c.17-12T>A Single submitter hereditary spastic paraplegia 64
  • c.17-13C>T Single submitter hereditary spastic paraplegia 64
  • c.17-16C>T Single submitter hereditary spastic paraplegia 64
  • c.17-7G>A Single submitter hereditary spastic paraplegia 64
  • c.262+17G>A Single submitter hereditary spastic paraplegia 64
  • c.262+9A>G Single submitter hereditary spastic paraplegia 64
  • c.413+11A>G Single submitter hereditary spastic paraplegia 64
  • c.413+12T>C Single submitter hereditary spastic paraplegia 64
  • c.413+210dup Single submitter
  • c.414-11_414-8del Single submitter hereditary spastic paraplegia 64
  • c.414-13T>C Single submitter hereditary spastic paraplegia 64
  • c.414-17G>T Single submitter hereditary spastic paraplegia 64
  • c.414-6G>A Single submitter hereditary spastic paraplegia 64
  • c.414-6G>T Single submitter hereditary spastic paraplegia 64
  • c.573+16C>T Single submitter hereditary spastic paraplegia 64
  • c.574-20G>A Single submitter hereditary spastic paraplegia 64
  • c.813+19del Single submitter hereditary spastic paraplegia 64
  • c.814-6A>G Single submitter hereditary spastic paraplegia 64
  • p.Ala362= Single submitter hereditary spastic paraplegia 64
  • p.Ala42= Single submitter hereditary spastic paraplegia 64
  • p.Ala448= Single submitter hereditary spastic paraplegia 64
  • p.Ala55= Single submitter hereditary spastic paraplegia 64
  • p.Arg135= Single submitter hereditary spastic paraplegia 64
  • p.Asn292= Single submitter hereditary spastic paraplegia 64
  • p.Asn46= Single submitter hereditary spastic paraplegia 64
  • p.Asn8= Single submitter hereditary spastic paraplegia 64
  • p.Asp447= Single submitter hereditary spastic paraplegia 64
  • p.Cys13= Single submitter hereditary spastic paraplegia 64
  • p.Cys338= Single submitter hereditary spastic paraplegia 64
  • p.Gln220= Single submitter hereditary spastic paraplegia 64
  • p.Gln228= Single submitter hereditary spastic paraplegia 64
  • p.Gln313= Single submitter hereditary spastic paraplegia 64
  • p.Gln324= Single submitter hereditary spastic paraplegia 64
  • p.Glu153= Single submitter
  • p.Glu173= Single submitter hereditary spastic paraplegia 64
  • p.Glu384= Single submitter
  • p.Glu395= Single submitter hereditary spastic paraplegia 64
  • p.Gly215= Single submitter
  • p.Gly286= Single submitter hereditary spastic paraplegia 64
  • p.Gly76= Single submitter hereditary spastic paraplegia 64
  • p.His326= Single submitter hereditary spastic paraplegia 64
  • p.His474= Single submitter
  • p.Ile230= Single submitter hereditary spastic paraplegia 64
  • p.Ile319Thr Single submitter Inborn genetic diseases
  • p.Leu156= Single submitter
  • p.Leu18= Single submitter hereditary spastic paraplegia 64
  • p.Leu409= Single submitter hereditary spastic paraplegia 64
  • p.Leu452= Single submitter hereditary spastic paraplegia 64
  • p.Leu483= Single submitter hereditary spastic paraplegia 64
  • p.Lys368Glu Single submitter Inborn genetic diseases
  • p.Lys501= Single submitter hereditary spastic paraplegia 64
  • p.Phe305= Single submitter hereditary spastic paraplegia 64
  • p.Pro125= Single submitter hereditary spastic paraplegia 64
  • p.Ser119= Single submitter hereditary spastic paraplegia 64
  • p.Ser485= Single submitter hereditary spastic paraplegia 64
  • p.Thr131= Single submitter hereditary spastic paraplegia 64
  • p.Thr302= Single submitter hereditary spastic paraplegia 64
  • p.Thr399= Single submitter hereditary spastic paraplegia 64
  • p.Thr417= Single submitter hereditary spastic paraplegia 64
  • p.Tyr454= Single submitter hereditary spastic paraplegia 64
  • p.Tyr477= Single submitter hereditary spastic paraplegia 64
  • p.Tyr63= Single submitter hereditary spastic paraplegia 64
  • p.Val293= Single submitter hereditary spastic paraplegia 64
  • p.Val382= Single submitter hereditary spastic paraplegia 64

Uncertain significance 109