Sugi Variant

Sugi Variant/TBCK

TBCK — 912 ClinVar variants

All ClinVar germline TBCK variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 320 flagged for review →

45 Pathogenic · 22 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 16 Conflicting · 54 Benign · 18 Benign/Likely benign · 356 Likely benign · 365 Uncertain significance

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

⚑ Evidence disagreements 320

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 9

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

Predictors lean, ClinVar uncertain 251

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 251

Predictors split 59

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

All TBCK variants

Pathogenic 45

  • c.1860+1G>A Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.1897+1G>A Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.193+1G>T Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.2060-6793_2235+427del Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.658+1G>A Multiple submitters neurodevelopmental disorder
  • p.Arg126Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Arg347Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Arg431fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Asn457fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Gln164Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Ile698fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Leu647fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Lys252Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Lys455Ter Multiple submitters TBCK-related disorder
  • p.Met268fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.1860+1G>T Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.1897+1G>T Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.2060_2235+1del Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.267-8502del Single submitter
  • c.658+1_658+7del Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.659-1G>A Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Arg85fs Single submitter
  • p.Asn417fs Single submitter
  • p.Cys198fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Gln102fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Gln458Ter Single submitter
  • p.Glu241Ter Single submitter intellectual disability
  • p.Ile322fs Single submitter
  • p.Leu480fs Single submitter
  • p.Leu4fs Single submitter
  • p.Phe445fs Single submitter
  • p.Pro278fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Ser789fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Trp460fs Single submitter
  • p.Trp460Ter Single submitter
  • p.Trp535Ter Single submitter
  • p.Trp703Ter Single submitter
  • p.Tyr138fs Single submitter
  • p.Tyr401Ter Single submitter
  • p.Tyr710Ter Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Val276fs Single submitter
  • p.Val596fs Single submitter
  • p.Val70fs Single submitter
  • p.Gln715Ter No assertion criteria hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Glu687fs No assertion criteria hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Pathogenic/Likely pathogenic 22

  • c.1170+1G>A Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.2060-2A>G Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.381+1G>A Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.382-2A>G Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.456-1G>A Multiple submitters
  • c.456-2A>G Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Arg370Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Arg66Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Arg83Ter Multiple submitters congenital nervous system disorder
  • p.Cys221Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Cys353fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Gln102Ter Multiple submitters
  • p.Gln591Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Glu827Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.His64fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Lys718fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Phe675fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Pro178fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Pro180fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Pro751fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Trp545Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Val246fs Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Likely pathogenic 36

  • c.1351-1G>A Multiple submitters TBCK-related disorder
  • c.1775-1G>C Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.266+2T>G Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.720+1G>A Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Phe682fs Multiple submitters TBCK-related disorder
  • p.Tyr156Ter Multiple submitters hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.1071-1G>C Single submitter
  • c.1170+1G>T Single submitter
  • c.1350+1del Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.1512+1G>A Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.1898-2A>G Single submitter
  • c.193+1G>A Single submitter
  • c.2060-9050_2235+26133del Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.2235+1G>A Single submitter
  • c.659-2A>C Single submitter
  • c.721-2A>G Single submitter
  • c.932-2A>C Single submitter
  • p.Arg530fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Asn753fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Asp311Asn Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ⚠
  • p.Glu324Ter Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.His120fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Ile467fs Single submitter
  • p.Ile493fs Single submitter TBCK-related disorder
  • p.Leu226Ter Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Leu250Ter Single submitter TBCK-related disorder
  • p.Leu420Ter Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Met630fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Pro619fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Ser697fs Single submitter TBCK-related disorder
  • p.Ser91Ter Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Thr595fs Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.1860+2T>A No assertion criteria hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • c.1861-7C>G No assertion criteria
  • c.931+1G>A No assertion criteria TBCK-related disorder
  • p.Arg529Ter No assertion criteria hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Conflicting classifications of pathogenicity 16

  • c.1220+1G>A Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Arg800Trp Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ⚠
  • p.Asp186Gly Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ⚠
  • p.Asp377Val Single submitter Inborn genetic diseases ⚠
  • p.Gln838Ter Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Gly659Arg Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ⚠
  • p.Ile130Asn Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ⚠
  • p.Leu101_Gln102insProPheGluValLeu Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Phe627Cys Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ⚠
  • p.Pro20= Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3
  • p.Ser720Phe Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ⚠
  • p.Ser790Gly Single submitter Inborn genetic diseases ⚠
  • p.Thr823Ile Single submitter ⚠
  • p.Thr92Ala Single submitter Inborn genetic diseases ⚠
  • p.Trp626Cys Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3 ⚠
  • p.Tyr577Ter Single submitter hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Benign 54

Benign/Likely benign 18

Likely benign 356

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

Uncertain significance 365

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