Sugi Variant

Sugi Variant/FBXO7

FBXO7 — 444 ClinVar variants

All ClinVar germline FBXO7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 124 flagged for review →

29 Pathogenic · 10 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 13 Conflicting · 32 Benign · 2 Benign/Likely benign · 208 Likely benign · 143 Uncertain significance

Full FBXO7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 124

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 101

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

Predictors split 18

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

All FBXO7 variants

Pathogenic 29

  • p.Arg498Ter Multiple submitters parkinsonian-pyramidal syndrome
  • c.1144+1G>T Single submitter parkinsonian-pyramidal syndrome
  • p.Arg306fs Single submitter parkinsonian-pyramidal syndrome
  • p.Asn51fs Single submitter parkinsonian-pyramidal syndrome
  • p.Asp348fs Single submitter parkinsonian-pyramidal syndrome
  • p.Cys192fs Single submitter parkinsonian-pyramidal syndrome
  • p.Glu405Ter Single submitter parkinsonian-pyramidal syndrome
  • p.Glu470Ter Single submitter parkinsonian-pyramidal syndrome
  • p.Gly126fs Single submitter parkinsonian-pyramidal syndrome
  • p.Leu106fs Single submitter parkinsonian-pyramidal syndrome
  • p.Leu250fs Single submitter parkinsonian-pyramidal syndrome
  • p.Lys299fs Single submitter parkinsonian-pyramidal syndrome
  • p.Lys309Ter Single submitter parkinsonian-pyramidal syndrome
  • p.Met1Arg Single submitter parkinsonian-pyramidal syndrome
  • p.Met1Leu Single submitter parkinsonian-pyramidal syndrome
  • p.Met1Lys Single submitter parkinsonian-pyramidal syndrome
  • p.Met1Val Single submitter parkinsonian-pyramidal syndrome
  • p.Pro407fs Single submitter parkinsonian-pyramidal syndrome
  • p.Ser123fs Single submitter parkinsonian-pyramidal syndrome
  • p.Ser166Ter Single submitter parkinsonian-pyramidal syndrome
  • p.Ser174Ter Single submitter parkinsonian-pyramidal syndrome
  • p.Ser182fs Single submitter parkinsonian-pyramidal syndrome
  • p.Ser189fs Single submitter parkinsonian-pyramidal syndrome
  • p.Ser90fs Single submitter parkinsonian-pyramidal syndrome
  • p.Tyr396Ter Single submitter parkinsonian-pyramidal syndrome
  • p.Tyr448Ter Single submitter parkinsonian-pyramidal syndrome
  • p.Tyr52Ter Single submitter parkinsonian-pyramidal syndrome
  • p.Val274fs Single submitter parkinsonian-pyramidal syndrome
  • p.Arg378Gly No assertion criteria parkinsonian-pyramidal syndrome

Pathogenic/Likely pathogenic 10

  • p.Arg321Ter Multiple submitters parkinsonian-pyramidal syndrome
  • p.Arg345Ter Multiple submitters parkinsonian-pyramidal syndrome
  • p.Arg381Ter Multiple submitters parkinsonian-pyramidal syndrome
  • p.Arg403fs Multiple submitters parkinsonian-pyramidal syndrome
  • p.Arg45Ter Multiple submitters parkinsonian-pyramidal syndrome
  • p.Cys243fs Multiple submitters parkinsonian-pyramidal syndrome
  • p.Gln237Ter Multiple submitters parkinsonian-pyramidal syndrome
  • p.Pro484fs Multiple submitters parkinsonian-pyramidal syndrome
  • p.Thr22Met Multiple submitters parkinsonian-pyramidal syndrome
  • p.Tyr425fs Multiple submitters parkinsonian-pyramidal syndrome

Likely pathogenic 7

Conflicting classifications of pathogenicity 13

  • c.1144+9C>T Single submitter parkinsonian-pyramidal syndrome
  • c.1145-8C>T Single submitter parkinsonian-pyramidal syndrome
  • c.122+9G>A Single submitter parkinsonian-pyramidal syndrome
  • p.Arg360His Single submitter Inborn genetic diseases ⚠
  • p.Arg481Cys Single submitter parkinsonian-pyramidal syndrome ⚠
  • p.Asn502= Single submitter parkinsonian-pyramidal syndrome
  • p.Asp516His Single submitter parkinsonian-pyramidal syndrome ⚠
  • p.Glu149= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly512Asp Single submitter Inborn genetic diseases ⚠
  • p.Pro509= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser231= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser93Ala Single submitter parkinsonian-pyramidal syndrome ⚠
  • p.Val485Ile Single submitter parkinsonian-pyramidal syndrome ⚠

Benign 32

Benign/Likely benign 2

  • p.Leu375= Multiple submitters parkinsonian-pyramidal syndrome
  • p.Pro180= Multiple submitters parkinsonian-pyramidal syndrome

Likely benign 208

  • c.1145-156A>G Multiple submitters
  • c.122+343C>G Multiple submitters
  • c.122+382G>A Multiple submitters
  • c.122+555A>G Multiple submitters
  • c.871+15A>G Multiple submitters parkinsonian-pyramidal syndrome
  • c.968-122A>G Multiple submitters
  • p.Arg2= Multiple submitters parkinsonian-pyramidal syndrome
  • p.Asp361Gly Multiple submitters parkinsonian-pyramidal syndrome
  • p.Gly499Ser Multiple submitters parkinsonian-pyramidal syndrome
  • p.Ser351= Multiple submitters parkinsonian-pyramidal syndrome
  • p.Ser510= Multiple submitters parkinsonian-pyramidal syndrome
  • p.Tyr52Cys Multiple submitters parkinsonian-pyramidal syndrome
  • p.Val201Met Multiple submitters parkinsonian-pyramidal syndrome ⚠
  • c.1144+10G>A Single submitter parkinsonian-pyramidal syndrome
  • c.1144+10G>T Single submitter parkinsonian-pyramidal syndrome
  • c.1144+14T>C Single submitter parkinsonian-pyramidal syndrome
  • c.1144+185T>G Single submitter
  • c.1144+19T>C Single submitter parkinsonian-pyramidal syndrome
  • c.1144+20A>G Single submitter
  • c.1145-110_1145-109insCTT Single submitter
  • c.1145-14C>A Single submitter parkinsonian-pyramidal syndrome
  • c.1145-20T>G Single submitter parkinsonian-pyramidal syndrome
  • c.1145-8del Single submitter parkinsonian-pyramidal syndrome
  • c.1145-9C>A Single submitter parkinsonian-pyramidal syndrome
  • c.1182+12T>A Single submitter parkinsonian-pyramidal syndrome
  • c.1182+18T>G Single submitter parkinsonian-pyramidal syndrome
  • c.1182+7A>G Single submitter parkinsonian-pyramidal syndrome
  • c.1183-10T>A Single submitter parkinsonian-pyramidal syndrome
  • c.1183-11T>G Single submitter parkinsonian-pyramidal syndrome
  • c.1183-15T>G Single submitter parkinsonian-pyramidal syndrome
  • c.1183-19_1183-16del Single submitter parkinsonian-pyramidal syndrome
  • c.1183-20T>C Single submitter parkinsonian-pyramidal syndrome
  • c.1183-4del Single submitter parkinsonian-pyramidal syndrome
  • c.1183-7T>C Single submitter parkinsonian-pyramidal syndrome
  • c.1183-9T>C Single submitter parkinsonian-pyramidal syndrome
  • c.122+10G>T Single submitter parkinsonian-pyramidal syndrome
  • c.122+12C>T Single submitter parkinsonian-pyramidal syndrome
  • c.122+13C>T Single submitter parkinsonian-pyramidal syndrome
  • c.122+14G>C Single submitter parkinsonian-pyramidal syndrome
  • c.122+16G>A Single submitter parkinsonian-pyramidal syndrome
  • c.122+17G>A Single submitter parkinsonian-pyramidal syndrome
  • c.122+277G>A Single submitter
  • c.122+7dup Single submitter parkinsonian-pyramidal syndrome
  • c.123-10T>G Single submitter parkinsonian-pyramidal syndrome
  • c.123-12C>T Single submitter parkinsonian-pyramidal syndrome
  • c.123-20T>C Single submitter parkinsonian-pyramidal syndrome
  • c.123-20T>G Single submitter parkinsonian-pyramidal syndrome
  • c.417+18A>G Single submitter parkinsonian-pyramidal syndrome
  • c.417+20A>G Single submitter parkinsonian-pyramidal syndrome
  • c.417+7A>G Single submitter parkinsonian-pyramidal syndrome
  • c.418-11T>C Single submitter parkinsonian-pyramidal syndrome
  • c.418-16T>C Single submitter parkinsonian-pyramidal syndrome
  • c.418-7T>C Single submitter parkinsonian-pyramidal syndrome
  • c.645+12A>G Single submitter parkinsonian-pyramidal syndrome
  • c.645+13A>G Single submitter parkinsonian-pyramidal syndrome
  • c.645+19A>T Single submitter parkinsonian-pyramidal syndrome
  • c.645+22_645+23del Single submitter parkinsonian-pyramidal syndrome
  • c.646-10C>T Single submitter parkinsonian-pyramidal syndrome
  • c.646-14A>C Single submitter parkinsonian-pyramidal syndrome
  • c.646-15C>T Single submitter parkinsonian-pyramidal syndrome
  • c.646-20C>G Single submitter parkinsonian-pyramidal syndrome
  • c.646-6C>G Single submitter parkinsonian-pyramidal syndrome
  • c.646-8T>C Single submitter parkinsonian-pyramidal syndrome
  • c.646-9G>A Single submitter parkinsonian-pyramidal syndrome
  • c.787+11A>G Single submitter parkinsonian-pyramidal syndrome
  • c.787+13C>T Single submitter parkinsonian-pyramidal syndrome
  • c.787+14A>G Single submitter parkinsonian-pyramidal syndrome
  • c.787+17G>A Single submitter parkinsonian-pyramidal syndrome
  • c.787+182A>G Single submitter
  • c.788-11T>C Single submitter parkinsonian-pyramidal syndrome
  • c.788-12_788-9del Single submitter parkinsonian-pyramidal syndrome
  • c.788-15_788-13del Single submitter parkinsonian-pyramidal syndrome
  • c.788-15T>A Single submitter parkinsonian-pyramidal syndrome
  • c.788-16_788-13del Single submitter parkinsonian-pyramidal syndrome
  • c.788-17_788-13del Single submitter parkinsonian-pyramidal syndrome
  • c.788-8A>G Single submitter parkinsonian-pyramidal syndrome
  • c.788-9dup Single submitter parkinsonian-pyramidal syndrome
  • c.871+15_871+17del Single submitter parkinsonian-pyramidal syndrome
  • c.872-15T>C Single submitter parkinsonian-pyramidal syndrome
  • c.872-19A>G Single submitter parkinsonian-pyramidal syndrome
  • c.872-4C>A Single submitter parkinsonian-pyramidal syndrome
  • c.872-7A>T Single submitter parkinsonian-pyramidal syndrome
  • c.967+14T>C Single submitter parkinsonian-pyramidal syndrome
  • c.967+17T>C Single submitter parkinsonian-pyramidal syndrome
  • c.967+18G>C Single submitter parkinsonian-pyramidal syndrome
  • c.967+9T>C Single submitter parkinsonian-pyramidal syndrome
  • c.968-16_968-14del Single submitter parkinsonian-pyramidal syndrome
  • c.968-17T>C Single submitter parkinsonian-pyramidal syndrome
  • c.968-18C>G Single submitter parkinsonian-pyramidal syndrome
  • c.968-9T>G Single submitter parkinsonian-pyramidal syndrome
  • p.Ala107Thr Single submitter parkinsonian-pyramidal syndrome
  • p.Ala128= Single submitter parkinsonian-pyramidal syndrome
  • p.Ala148= Single submitter parkinsonian-pyramidal syndrome
  • p.Ala155= Single submitter parkinsonian-pyramidal syndrome
  • p.Ala248= Single submitter parkinsonian-pyramidal syndrome
  • p.Ala323= Single submitter parkinsonian-pyramidal syndrome
  • p.Ala357= Single submitter parkinsonian-pyramidal syndrome
  • p.Ala84= Single submitter parkinsonian-pyramidal syndrome
  • p.Arg10= Single submitter parkinsonian-pyramidal syndrome
  • p.Arg342= Single submitter parkinsonian-pyramidal syndrome
  • p.Arg438= Single submitter parkinsonian-pyramidal syndrome
  • p.Arg45= Single submitter parkinsonian-pyramidal syndrome
  • p.Arg498= Single submitter parkinsonian-pyramidal syndrome
  • p.Arg508= Single submitter parkinsonian-pyramidal syndrome
  • p.Asn101= Single submitter parkinsonian-pyramidal syndrome
  • p.Asn154= Single submitter parkinsonian-pyramidal syndrome
  • p.Asn293= Single submitter parkinsonian-pyramidal syndrome
  • p.Asn492= Single submitter parkinsonian-pyramidal syndrome
  • p.Asp136= Single submitter parkinsonian-pyramidal syndrome
  • p.Asp137= Single submitter parkinsonian-pyramidal syndrome
  • p.Asp191= Single submitter parkinsonian-pyramidal syndrome
  • p.Asp194Asn Single submitter Inborn genetic diseases
  • p.Asp310= Single submitter parkinsonian-pyramidal syndrome
  • p.Cys243= Single submitter parkinsonian-pyramidal syndrome
  • p.Gln103= Single submitter parkinsonian-pyramidal syndrome
  • p.Gln144= Single submitter parkinsonian-pyramidal syndrome
  • p.Gln188= Single submitter parkinsonian-pyramidal syndrome
  • p.Glu102= Single submitter parkinsonian-pyramidal syndrome
  • p.Glu102Asp Single submitter Inborn genetic diseases
  • p.Glu118= Single submitter parkinsonian-pyramidal syndrome
  • p.Glu15= Single submitter parkinsonian-pyramidal syndrome
  • p.Glu282= Single submitter parkinsonian-pyramidal syndrome
  • p.Glu405= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly126= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly132Asp Single submitter Inborn genetic diseases
  • p.Gly177= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly24= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly291= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly331= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly39= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly490= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly497= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly499= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly58= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly67= Single submitter parkinsonian-pyramidal syndrome
  • p.Gly71= Single submitter parkinsonian-pyramidal syndrome
  • p.His156= Single submitter parkinsonian-pyramidal syndrome
  • p.Ile267= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu14= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu199= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu208= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu222= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu222Val Single submitter Inborn genetic diseases
  • p.Leu265= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu30= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu304= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu307= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu324= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu326= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu337= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu34= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu347= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu362= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu454= Single submitter parkinsonian-pyramidal syndrome
  • p.Leu464= Single submitter parkinsonian-pyramidal syndrome
  • p.Lys229Arg Single submitter Inborn genetic diseases
  • p.Lys303= Single submitter parkinsonian-pyramidal syndrome
  • p.Phe363= Single submitter parkinsonian-pyramidal syndrome
  • p.Phe434= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro142= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro225= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro407= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro416= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro423= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro426= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro433= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro455= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro460= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro466= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro472= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro489= Single submitter parkinsonian-pyramidal syndrome
  • p.Pro83= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser110= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser131= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser174= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser182= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser193= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser210= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser247= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser28= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser354= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser406= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser417= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser436= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser473= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser65= Single submitter parkinsonian-pyramidal syndrome
  • p.Ser97= Single submitter parkinsonian-pyramidal syndrome
  • p.Thr11= Single submitter parkinsonian-pyramidal syndrome
  • p.Thr185= Single submitter parkinsonian-pyramidal syndrome
  • p.Thr217= Single submitter parkinsonian-pyramidal syndrome
  • p.Thr264= Single submitter parkinsonian-pyramidal syndrome
  • p.Thr37Ser Single submitter parkinsonian-pyramidal syndrome
  • p.Thr471= Single submitter parkinsonian-pyramidal syndrome
  • p.Thr62= Single submitter parkinsonian-pyramidal syndrome
  • p.Tyr298= Single submitter parkinsonian-pyramidal syndrome
  • p.Tyr40= Single submitter parkinsonian-pyramidal syndrome
  • p.Tyr456= Single submitter parkinsonian-pyramidal syndrome
  • p.Tyr52= Single submitter parkinsonian-pyramidal syndrome
  • p.Val133= Single submitter parkinsonian-pyramidal syndrome
  • p.Val16= Single submitter parkinsonian-pyramidal syndrome
  • p.Val179= Single submitter parkinsonian-pyramidal syndrome
  • p.Val201= Single submitter parkinsonian-pyramidal syndrome
  • p.Val329= Single submitter parkinsonian-pyramidal syndrome
  • p.Val333= Single submitter parkinsonian-pyramidal syndrome
  • p.Val385= Single submitter parkinsonian-pyramidal syndrome
  • p.Val412= Single submitter parkinsonian-pyramidal syndrome
  • p.Val457= Single submitter parkinsonian-pyramidal syndrome
  • c.122+245G>A No assertion criteria FBXO7-related disorder

Uncertain significance 143