Sugi Variant

Sugi Variant/TAOK1

TAOK1 — 359 ClinVar variants

All ClinVar germline TAOK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →

36 Pathogenic · 6 Pathogenic/Likely pathogenic · 41 Likely pathogenic · 4 Conflicting · 8 Benign · 1 Benign/Likely benign · 38 Likely benign · 225 Uncertain significance

Full TAOK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 196

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.

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 145

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

Predictors split 48

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

All TAOK1 variants

Pathogenic 36

  • p.Arg605Ter Multiple submitters
  • p.Arg695Ter Multiple submitters Inborn genetic diseases
  • p.Arg698Ter Multiple submitters Inborn genetic diseases
  • c.1576-2A>T Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.204+1G>A Single submitter TAOK1-related disorder
  • c.307-14A>G Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.352+1G>A Single submitter Inborn genetic diseases
  • p.Ala300_Val301insTer Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Ala855fs Single submitter global developmental delay with or without impaired intellectual development
  • p.Arg310Ter Single submitter
  • p.Arg562Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Arg608fs Single submitter Neurodevelopmental delay
  • p.Arg617fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Arg6fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Arg829Ter Single submitter
  • p.Gln318fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Gln503Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Gln588Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Gln607Ter Single submitter
  • p.Gln721Ter Single submitter neurodevelopmental disorder
  • p.Glu501Ter Single submitter
  • p.Glu558fs Single submitter Inborn genetic diseases
  • p.Glu752fs Single submitter
  • p.Glu830Ter Single submitter
  • p.Glu835Ter Single submitter
  • p.Leu195Ter Single submitter
  • p.Leu307fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Lys716fs Single submitter TAOK1-related disorder
  • p.Lys731Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Met464fs Single submitter Inborn genetic diseases
  • p.Pro243fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Trp209Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Trp250Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.1339-1G>T No assertion criteria developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Leu548Pro No assertion criteria developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Leu790fs No assertion criteria developmental delay with or without intellectual impairment or behavioral abnormalities

Pathogenic/Likely pathogenic 6

  • p.Arg435Ter Multiple submitters neurodevelopmental disorder
  • p.Arg442Trp Multiple submitters developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Arg46Ter Multiple submitters developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Arg472Ter Multiple submitters Inborn genetic diseases
  • p.Arg654Ter Multiple submitters developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Arg702Ter Multiple submitters Inborn genetic diseases

Likely pathogenic 41

  • c.132+1G>C Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.132+1G>T Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.132+3_132+6del Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.1575+1G>A Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.1576-1G>A Single submitter Inborn genetic diseases
  • c.1908+1G>A Single submitter
  • c.205-2A>G Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.2148+1G>A Single submitter Inborn genetic diseases
  • c.999+1G>A Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.-94-1G>A Single submitter
  • p.Ala601fs Single submitter TAOK1-related disorder
  • p.Arg150Ile Single submitter Inborn genetic diseases
  • p.Arg150Thr Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Arg269Pro Single submitter
  • p.Arg269Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Arg469Ter Single submitter TAOK1-related disorder
  • p.Arg735fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Asn229Lys Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Asn639fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Asp151Asn Single submitter Inborn genetic diseases
  • p.Asp207Asn Single submitter
  • p.Asp259fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Gln308Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Glu220Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Glu532Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Glu719Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Glu76Ala Single submitter neurodevelopmental disorder
  • p.Glu808Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.His143fs Single submitter
  • p.Leu218Pro Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Leu315Phe Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities ⚠
  • p.Lys848fs Single submitter TAOK1-related disorder
  • p.Met197Leu Single submitter Global developmental delay
  • p.Met231Lys Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Met479fs Single submitter neurodevelopmental disorder
  • p.Phe257Ser Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Pro422fs Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • p.Ser111Phe Single submitter neurodevelopmental disorder
  • p.Thr185Met Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.563+1G>A No assertion criteria developmental delay with or without intellectual impairment or behavioral abnormalities
  • c.655_655+1delinsT No assertion criteria TAOK1-related disorder

Conflicting classifications of pathogenicity 4

  • p.Ala219Val Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities ⚠
  • p.Arg709Ter Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities ⚠
  • p.Leu570Val Single submitter Inborn genetic diseases ⚠
  • p.Pro186Leu Single submitter developmental delay with or without intellectual impairment or behavioral abnormalities ⚠

Benign 8

Benign/Likely benign 1

Likely benign 38

Uncertain significance 225