Sugi Variant

Sugi Variant/UNC80

UNC80 — 2438 ClinVar variants

All ClinVar germline UNC80 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 588 flagged for review →

71 Pathogenic · 13 Pathogenic/Likely pathogenic · 56 Likely pathogenic · 43 Conflicting · 36 Benign · 50 Benign/Likely benign · 1135 Likely benign · 1034 Uncertain significance

Full UNC80 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 588

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 22

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

Predictors lean, ClinVar uncertain 448

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 448

Predictors split 118

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

All UNC80 variants

Pathogenic 71

Pathogenic/Likely pathogenic 13

  • c.4110+1G>C Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Arg1179Ter Multiple submitters UNC80-related disorder
  • p.Arg2125Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Arg291Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Arg360Ter Multiple submitters UNC80-related disorder
  • p.Arg453fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Arg505Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Arg566Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Arg811Ter Multiple submitters UNC80-related disorder
  • p.Thr2567fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Trp141Ter Multiple submitters UNC80-related disorder
  • p.Trp2900fs Multiple submitters
  • p.Val1857fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2

Likely pathogenic 56

Conflicting classifications of pathogenicity 43

Benign 36

Benign/Likely benign 50

  • c.2332-11G>C Multiple submitters
  • c.2332-7G>T Multiple submitters
  • c.2627-17G>A Multiple submitters
  • c.2775+17T>A Multiple submitters
  • c.298+11C>G Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • c.3455-13A>G Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • c.3977-4C>A Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • c.4890+7T>G Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • c.600+11A>T Multiple submitters
  • c.7050+27dup Multiple submitters
  • c.7458-15C>T Multiple submitters
  • c.7806-17AT[7] Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • c.7806-17AT[8] Multiple submitters
  • c.8587+11TC[5] Multiple submitters
  • c.8587+16C>T Multiple submitters
  • c.92+7G>A Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • c.9397-4T>C Multiple submitters
  • p.Ala2490= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Ala2843Val Multiple submitters
  • p.Ala2863= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Ala3205Gly Multiple submitters
  • p.Asn407= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Cys1000= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Cys255= Multiple submitters
  • p.Gln3023= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Gln3151= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Glu3311= Multiple submitters
  • p.Gly740= Multiple submitters
  • p.Ile569= Multiple submitters
  • p.Leu1111= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Leu1372= Multiple submitters
  • p.Lys798= Multiple submitters
  • p.Met2253Thr Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Pro3168= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Pro3168Leu Multiple submitters
  • p.Pro3269= Multiple submitters
  • p.Ser1124Arg Multiple submitters ⚠
  • p.Ser1524= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Ser2209= Multiple submitters
  • p.Ser3047= Multiple submitters
  • p.Ser540= Multiple submitters
  • p.Thr1309Ile Multiple submitters
  • p.Thr135Ile Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Thr2055= Multiple submitters
  • p.Thr2406= Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Thr3251Arg Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 2
  • p.Tyr2030= Multiple submitters
  • p.Tyr2119= Multiple submitters
  • p.Val2990Met Multiple submitters Inborn genetic diseases
  • p.Val945= Multiple submitters

Likely benign 1135

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 1034

Showing the top 300 by review status; the full set is in the sitemap.