Sugi Variant

Sugi Variant/CHD8

CHD8 — 1937 ClinVar variants

All ClinVar germline CHD8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 874 flagged for review →

138 Pathogenic · 11 Pathogenic/Likely pathogenic · 101 Likely pathogenic · 131 Conflicting · 76 Benign · 44 Benign/Likely benign · 536 Likely benign · 900 Uncertain significance

Full CHD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 874

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 3

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

Predictors agree, ClinVar conflicts 76

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

Predicted LoF vs a conflicting call 4

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 518

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 518

Predictors split 273

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 273

All CHD8 variants

Pathogenic 138

  • p.Arg1188Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg1242Ter Multiple submitters neurodevelopmental disorder
  • p.Arg1245Ter Multiple submitters
  • p.Arg1337Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg1460Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg1462Ter Multiple submitters Inborn genetic diseases
  • p.Arg1472Ter Multiple submitters CHD8-related disorder
  • p.Arg1797Ter Multiple submitters
  • p.Arg1808Ter Multiple submitters intellectual disability
  • p.Arg1834Ter Multiple submitters intellectual disability
  • p.Arg2035Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg212Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg2217Ter Multiple submitters Inborn genetic diseases
  • p.Arg243Ter Multiple submitters Inborn genetic diseases
  • p.Arg876Ter Multiple submitters
  • p.Gly1602fs Multiple submitters
  • p.Ile1108fs Multiple submitters Inborn genetic diseases
  • p.Trp1624Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • c.1968+1G>A Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.2025-1G>C Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.2487-2A>G Single submitter
  • c.3308-1G>C Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.3308-2A>G Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.3518+2T>A Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.3519-2A>G Single submitter autism spectrum disorder
  • c.4174-9_4174-1del Single submitter
  • c.4729del Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.4818-1G>C Single submitter
  • c.5051+1del Single submitter Inborn genetic diseases
  • c.5053delG Single submitter Inborn genetic diseases
  • p.Ala1147fs Single submitter
  • p.Ala1596fs Single submitter
  • p.Ala1747fs Single submitter
  • p.Arg1477Ter Single submitter
  • p.Arg1533fs Single submitter
  • p.Arg1882fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Arg2158fs Single submitter
  • p.Arg2244Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Arg2352Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Arg451Ter Single submitter
  • p.Arg482Ter Single submitter
  • p.Arg651Trp Single submitter
  • p.Arg709fs Single submitter Inborn genetic diseases
  • p.Arg938fs Single submitter intellectual disability
  • p.Arg952Ter Single submitter autism spectrum disorder
  • p.Asn1040fs Single submitter
  • p.Asn1372fs Single submitter
  • p.Asn855fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Asp1870fs Single submitter
  • p.Asp948fs Single submitter Neurodevelopmental delay
  • p.Cys1208fs Single submitter
  • p.Cys944fs Single submitter Inborn genetic diseases
  • p.Gln111fs Single submitter Inborn genetic diseases
  • p.Gln1171Ter Single submitter autism spectrum disorder
  • p.Gln1238Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln1404Ter Single submitter
  • p.Gln1520fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln1706fs Single submitter Inborn genetic diseases
  • p.Gln1733Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln1951Ter Single submitter
  • p.Gln232Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln317Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln331Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln410Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln455Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln48Ter Single submitter
  • p.Gln845fs Single submitter
  • p.Gln998Ter Single submitter
  • p.Glu1111fs Single submitter intellectual disability
  • p.Glu1264fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Glu1480Asp Single submitter intellectual developmental disorder with autism and macrocephaly ⚠
  • p.Glu1727Ter Single submitter CHD8-related disorder
  • p.Glu1932fs Single submitter
  • p.Glu2103fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Glu514Ter Single submitter
  • p.Gly1213fs Single submitter
  • p.Gly1215Arg Single submitter Paediatric disorders
  • p.Gly2260Ter Single submitter Inborn genetic diseases
  • p.Gly523fs Single submitter
  • p.His734fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.His782fs Single submitter autism spectrum disorder
  • p.His992fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Ile1789fs Single submitter
  • p.Leu1175Ter Single submitter intellectual disability
  • p.Leu1277fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Leu1492fs Single submitter
  • p.Leu1985fs Single submitter
  • p.Leu321fs Single submitter
  • p.Leu375fs Single submitter Inborn genetic diseases
  • p.Leu698Ter Single submitter
  • p.Leu748_Val749insTer Single submitter
  • p.Leu980fs Single submitter autism spectrum disorder
  • p.Lys528fs Single submitter autism spectrum disorder
  • p.Met1267fs Single submitter
  • p.Met2339fs Single submitter
  • p.Phe1203fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Phe1687fs Single submitter Macrocephaly
  • p.Phe1850fs Single submitter
  • p.Phe1955fs Single submitter neurodevelopmental disorder
  • p.Phe711fs Single submitter CHD8-related disorder
  • p.Pro1915fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Pro2001fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Pro40fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Pro861fs Single submitter
  • p.Ser1001Ter Single submitter
  • p.Ser113fs Single submitter
  • p.Ser1156Tyr Single submitter
  • p.Ser1229Ter Single submitter Inborn genetic diseases
  • p.Ser155fs Single submitter Inborn genetic diseases
  • p.Ser491_Val492delinsArgGly Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Ser576Ter Single submitter Inborn genetic diseases
  • p.Ser932Ter Single submitter
  • p.Thr116fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Thr1342_Ile1343insTer Single submitter
  • p.Thr1351fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Thr2050fs Single submitter CHD8-related disorder
  • p.Thr370fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Trp1377Ter Single submitter
  • p.Trp1458Ter Single submitter
  • p.Trp1625Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Trp2176Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Trp821Ter Single submitter intellectual disability
  • p.Trp826Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Tyr1174Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Tyr1441fs Single submitter
  • p.Tyr1756fs Single submitter
  • p.Tyr672Ter Single submitter CHD8-related disorder
  • c.4818-1G>A No assertion criteria intellectual developmental disorder with autism and macrocephaly
  • p.Cys1208Phe No assertion criteria intellectual developmental disorder with autism and macrocephaly
  • p.Cys1490Ter No assertion criteria
  • p.Gln1332fs No assertion criteria intellectual developmental disorder with autism and macrocephaly
  • p.Gln380Ter No assertion criteria CHD8-related disorder
  • p.Glu689Ter No assertion criteria intellectual developmental disorder with autism and macrocephaly
  • p.Leu2120fs No assertion criteria intellectual developmental disorder with autism and macrocephaly
  • p.Ser2173Ter No assertion criteria intellectual developmental disorder with autism and macrocephaly
  • p.Ser62Ter No assertion criteria intellectual developmental disorder with autism and macrocephaly
  • p.Tyr1168Asn No assertion criteria intellectual developmental disorder with autism and macrocephaly
  • p.Tyr747Ter No assertion criteria intellectual developmental disorder with autism and macrocephaly

Pathogenic/Likely pathogenic 11

  • c.3882+1G>A Multiple submitters Inborn genetic diseases
  • p.Arg1402Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg1582Ter Multiple submitters Inborn genetic diseases
  • p.Arg1673Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg1776Ter Multiple submitters CHD8-related disorder
  • p.Arg2150fs Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg564Ter Multiple submitters CHD8-related disorder
  • p.Arg582Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg773Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Ser909Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Tyr1645Ter Multiple submitters intellectual developmental disorder with autism and macrocephaly

Likely pathogenic 101

  • p.Arg1242Gln Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • p.Arg578Cys Multiple submitters Macrocephaly
  • p.Lys1537_Val1538insTer Multiple submitters intellectual developmental disorder with autism and macrocephaly
  • c.1601+5G>A Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.1899+2T>G Single submitter
  • c.2143-5T>G Single submitter CHD8-related disorder
  • c.2227-1G>C Single submitter
  • c.2364+1G>C Single submitter neurodevelopmental disorder
  • c.2486+1G>A Single submitter
  • c.2486+1G>T Single submitter
  • c.2487-1G>C Single submitter neurodevelopmental disorder
  • c.2730+1G>C Single submitter Inborn genetic diseases
  • c.2907+1G>A Single submitter Inborn genetic diseases
  • c.3308-1G>A Single submitter Inborn genetic diseases
  • c.3714+1G>A Single submitter CHD8-related disorder
  • c.4727+1del Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.4817+2T>A Single submitter
  • c.5127+1G>A Single submitter
  • c.5599+2T>G Single submitter
  • c.5600-2A>G Single submitter intellectual developmental disorder with autism and macrocephaly
  • c.844-1G>C Single submitter
  • p.Arg1113fs Single submitter Marfanoid habitus and intellectual disability
  • p.Arg1242Leu Single submitter
  • p.Arg1580Trp Single submitter
  • p.Arg1895fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Arg2044Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Arg2333Cys Single submitter intellectual developmental disorder with autism and macrocephaly ⚠
  • p.Arg574fs Single submitter CHD8-associated Neurodevelopmental syndrome
  • p.Arg812Gln Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Arg876Pro Single submitter Paediatric disorders
  • p.Arg952Gln Single submitter
  • p.Arg952Leu Single submitter CHD8-related disorder
  • p.Arg956fs Single submitter
  • p.Arg956His Single submitter ⚠
  • p.Asn1575fs Single submitter
  • p.Asp1201Tyr Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Asp1222Val Single submitter
  • p.Asp1278fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Asp1686_Phe1687insTer Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Asp640Gly Single submitter Paediatric disorders ⚠
  • p.Cys1483fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Cys680Arg Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln177Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln1796Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln2366Ter Single submitter CHD8-related disorder
  • p.Gln281Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln365Ter Single submitter CHD8-related disorder
  • p.Gln687_Leu688insTer Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gln696Lys Single submitter ⚠
  • p.Glu1035fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Glu1264Lys Single submitter
  • p.Glu1361Ter Single submitter Developmental disorder
  • p.Glu2099Lys Single submitter intellectual developmental disorder with autism and macrocephaly ⚠
  • p.Glu509fs Single submitter CHD8-related disorder
  • p.Glu837Lys Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Glu949Ter Single submitter
  • p.Gly1103Val Single submitter autism spectrum disorder
  • p.Gly1212fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gly1322Arg Single submitter ⚠
  • p.Gly150fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Gly1814Val Single submitter Inborn genetic diseases
  • p.Gly2435fs Single submitter CHD8-related disorder
  • p.Gly263fs Single submitter CHD8-related disorder
  • p.Gly53fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.His1097Gln Single submitter
  • p.His2498fs Single submitter CHD8-related disorder
  • p.Leu1100Pro Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Leu1145Pro Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Leu1175fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Leu1207fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Leu1334fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Leu2053fs Single submitter CHD8-related disorder
  • p.Leu452Ter Single submitter
  • p.Lys1845fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Lys1845Ter Single submitter CHD8-related disorder
  • p.Lys2156Arg Single submitter ⚠
  • p.Lys443fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Met898Val Single submitter intellectual developmental disorder with autism and macrocephaly ⚠
  • p.Pro2316fs Single submitter
  • p.Pro368fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Ser1200Ter Single submitter CHD8-related disorder
  • p.Ser1526fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Ser2057fs Single submitter CHD8-related disorder
  • p.Ser395Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Ser491fs Single submitter CHD8-related disorder
  • p.Ser553Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Thr201fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Thr21fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Thr760Ile Single submitter Inborn genetic diseases
  • p.Trp2365Ter Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Trp761Leu Single submitter Paediatric disorders
  • p.Tyr1566Ter Single submitter CHD8-related disorder
  • p.Tyr1585Ter Single submitter CHD8-related disorder
  • p.Tyr585fs Single submitter intellectual developmental disorder with autism and macrocephaly
  • p.Tyr677Cys Single submitter Paediatric disorders
  • p.Val1449Glu Single submitter Paediatric disorders
  • p.Val644Ala Single submitter intellectual developmental disorder with autism and macrocephaly ⚠
  • p.Glu666Ter No assertion criteria CHD8-related disorder
  • p.Leu1873fs No assertion criteria
  • p.Leu1912fs No assertion criteria Rare genetic intellectual disability
  • p.Leu2114_Tyr2115insTer No assertion criteria intellectual developmental disorder with autism and macrocephaly

Conflicting classifications of pathogenicity 131

Benign 76

Benign/Likely benign 44

Likely benign 536

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

Uncertain significance 900

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