Sugi Variant

Sugi Variant/TCF20

TCF20 — 1357 ClinVar variants

All ClinVar germline TCF20 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 693 flagged for review →

112 Pathogenic · 6 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 74 Conflicting · 49 Benign · 36 Benign/Likely benign · 382 Likely benign · 662 Uncertain significance

Full TCF20 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 693

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 62

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

Predictors lean, ClinVar uncertain 457

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 457

Predictors split 173

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 173

All TCF20 variants

Pathogenic 112

  • p.Arg1581fs Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Arg1907Ter Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Arg742Ter Multiple submitters Inborn genetic diseases
  • p.Asp1029fs Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Cys1795fs Multiple submitters
  • p.Gln122fs Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln471Ter Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln754Ter Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln935Ter Multiple submitters autism spectrum disorder
  • p.Lys929fs Multiple submitters Inborn genetic diseases
  • p.Tyr264Ter Multiple submitters
  • p.Val604fs Multiple submitters Mild intellectual disability
  • c.5749+4143_*45-2982del Single submitter
  • p.Arg1002fs Single submitter
  • p.Arg1042fs Single submitter
  • p.Arg109Ter Single submitter
  • p.Arg1131fs Single submitter
  • p.Arg1254fs Single submitter intellectual disability
  • p.Arg1255fs Single submitter TCF20-related disorder
  • p.Arg1596Ter Single submitter Neurodevelopmental abnormality
  • p.Arg1664fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Arg1907fs Single submitter Inborn genetic diseases
  • p.Arg227fs Single submitter
  • p.Arg570fs Single submitter Neurodevelopmental abnormality
  • p.Arg719Ter Single submitter Neurodevelopmental abnormality
  • p.Arg896fs Single submitter Inborn genetic diseases
  • p.Arg994fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Asn796fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Asp1168fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Asp1823_Ser1824insTer Single submitter
  • p.Cys1163fs Single submitter Neurodevelopmental abnormality
  • p.Cys1708fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln1088Ter Single submitter
  • p.Gln1185fs Single submitter TCF20-related disorder
  • p.Gln1269Ter Single submitter
  • p.Gln1619Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln174Ter Single submitter
  • p.Gln1777Ter Single submitter
  • p.Gln1876Ter Single submitter TCF20-related disorder
  • p.Gln189Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln233Ter Single submitter Neurodevelopmental abnormality
  • p.Gln307Ter Single submitter Inborn genetic diseases
  • p.Gln311fs Single submitter Neurodevelopmental abnormality
  • p.Gln314Ter Single submitter Inborn genetic diseases
  • p.Gln400fs Single submitter
  • p.Gln417Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln540Ter Single submitter
  • p.Gln654Ter Single submitter Neurodevelopmental abnormality
  • p.Gln773fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln794Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Glu1057fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Glu1117fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Glu1423fs Single submitter Global developmental delay
  • p.Glu28Ter Single submitter
  • p.Glu29Ter Single submitter
  • p.Glu697fs Single submitter Neurodevelopmental abnormality
  • p.Gly1028fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gly1457fs Single submitter Inborn genetic diseases
  • p.Gly1709fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gly1857fs Single submitter
  • p.Gly285Ter Single submitter TCF20-related disorder
  • p.Gly691fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gly734Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.His1909Tyr Single submitter Neurodevelopmental abnormality
  • p.Ile1308fs Single submitter
  • p.Leu1867fs Single submitter
  • p.Leu208fs Single submitter
  • p.Leu389fs Single submitter craniosynostosis
  • p.Leu904Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Lys1446fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Lys619fs Single submitter
  • p.Lys748fs Single submitter
  • p.Lys946fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Met778fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Met888fs Single submitter Neurodevelopmental abnormality
  • p.Met917fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Pro1203fs Single submitter Failure to thrive
  • p.Pro1492fs Single submitter Inborn genetic diseases
  • p.Pro1567fs Single submitter
  • p.Pro1692fs Single submitter Inborn genetic diseases
  • p.Pro210fs Single submitter
  • p.Ser1040Ter Single submitter Neurodevelopmental delay
  • p.Ser1288Ter Single submitter
  • p.Ser1418fs Single submitter
  • p.Ser1474fs Single submitter
  • p.Ser1482fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ser553fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ser55fs Single submitter
  • p.Thr1455fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Thr1671fs Single submitter TCF20-related disorder
  • p.Trp1711Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Trp1853Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Tyr1725fs Single submitter
  • p.Tyr1729Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Tyr290Ter Single submitter
  • p.Tyr79fs Single submitter
  • p.Tyr961Ter Single submitter Neurodevelopmental abnormality
  • p.Val277fs Single submitter
  • p.Arg1741fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Arg1785fs No assertion criteria
  • p.Asp1280fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Cys382fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln1592Ter No assertion criteria intellectual disability
  • p.Gln319Ter No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Glu1696fs No assertion criteria Neurodevelopmental abnormality
  • p.Gly199fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Leu1284fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Lys1173fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Pro507fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ser1397fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ser1669Ter No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Val1661fs No assertion criteria developmental delay with variable intellectual impairment and behavioral abnormalities

Pathogenic/Likely pathogenic 6

  • p.Arg1268fs Multiple submitters intellectual disability
  • p.Asp1315fs Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln1082Ter Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gly857fs Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Lys1579fs Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Trp1861Ter Multiple submitters developmental delay with variable intellectual impairment and behavioral abnormalities

Likely pathogenic 36

  • p.Ala1071Ile Single submitter
  • p.Ala1811fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ala478_Leu479insTer Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ala612fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Arg5Trp Single submitter ⚠
  • p.Asp838fs Single submitter
  • p.Asp932_Phe933insTer Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Cys1641Ter Single submitter TCF20-related disorder
  • p.Cys1858Arg Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Cys1858fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln105fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln1127Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln1185Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln1271Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln1357Ter Single submitter TCF20-related disorder
  • p.Gln1553Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln1562fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln176Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln236fs Single submitter TCF20-related disorder
  • p.Gln255fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln391Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gln927Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Glu1776Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Glu656fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Gly229fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ile1341fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ile1881fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Pro1240fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Pro1344fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ser1122fs Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Ser244Phe Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities ⚠
  • p.Ser356fs Single submitter
  • p.Ser663fs Single submitter TCF20-related disorder
  • p.Ser865Ter Single submitter developmental delay with variable intellectual impairment and behavioral abnormalities
  • p.Thr1648fs Single submitter
  • p.Tyr1090fs Single submitter

Conflicting classifications of pathogenicity 74

Benign 49

Benign/Likely benign 36

Likely benign 382

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

Uncertain significance 662

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