HDAC8 — 402 ClinVar variants
All ClinVar germline HDAC8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 101 flagged for review →
43 Pathogenic · 4 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 13 Conflicting · 30 Benign · 12 Benign/Likely benign · 125 Likely benign · 120 Uncertain significance
Full HDAC8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 101
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.
-
HDAC8 p.Arg55Met
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 5
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
HDAC8 p.Ala8Thr
Conflicting
Single submitter
Inborn genetic diseases
-
HDAC8 p.Arg223Trp
Conflicting
Single submitter
HDAC8-related disorders
-
HDAC8 p.Asn156Asp
Conflicting
Single submitter
intellectual disability
-
HDAC8 p.Gly139Ala
Conflicting
Single submitter
Inborn genetic diseases
-
HDAC8 p.Gly320Arg
Conflicting
Single submitter
Inborn genetic diseases
-
HDAC8 p.Ile94Thr
Conflicting
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Met27Thr
Conflicting
Single submitter
Inborn genetic diseases
Predicted LoF vs a conflicting call 2
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.
-
HDAC8 c.1111+1G>A
Conflicting
Single submitter
Inborn genetic diseases
-
HDAC8 p.Arg361Ter
Conflicting
Single submitter
Cornelia de Lange syndrome 5
Predictors lean, ClinVar uncertain 79
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
HDAC8 p.Arg167Pro
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 5
-
HDAC8 p.Asp128Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HDAC8 p.Asp88Asn
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 5
-
HDAC8 p.Glu66Asp
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 5
-
HDAC8 p.Leu308Phe
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 5
-
HDAC8 p.Lys258Glu
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 5
-
HDAC8 p.Met279Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HDAC8 p.Tyr340Cys
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 5
-
HDAC8 p.Val15Ile
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 5
-
HDAC8 p.Val321Leu
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 5
-
HDAC8 p.Ala104Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Ala104Val Uncertain significance Single submitter
- HDAC8 p.Ala149Pro Uncertain significance Single submitter
- HDAC8 p.Ala158Val Uncertain significance Single submitter
-
HDAC8 p.Ala297Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Ala309Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Ala312Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Ala8Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Arg167Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Arg171His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Arg313Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Arg55Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Asn228Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Asn372Asp Uncertain significance Single submitter
-
HDAC8 p.Asp147Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Asp176Asn Uncertain significance Single submitter
-
HDAC8 p.Asp272Asn
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Asp272Gly Uncertain significance Single submitter
- HDAC8 p.Asp355Tyr Uncertain significance Single submitter
-
HDAC8 p.Cys102Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Cys102Trp Uncertain significance Single submitter
-
HDAC8 p.Glu170Lys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Glu23Ala
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Glu3Ala Uncertain significance Single submitter
-
HDAC8 p.Glu66Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- HDAC8 p.Glu95Gln Uncertain significance Single submitter
- HDAC8 p.Gly107Glu Uncertain significance Single submitter
-
HDAC8 p.Gly117Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Gly11Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Gly140Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Gly218Arg Uncertain significance Single submitter
- HDAC8 p.Gly222Glu Uncertain significance Single submitter
-
HDAC8 p.Gly305Asp
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Gly324Glu Uncertain significance Single submitter
-
HDAC8 p.His201Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Ile115Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Ile135Val Uncertain significance Single submitter
-
HDAC8 p.Ile300Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Leu299Phe
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Leu373Met
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Leu44Phe
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Leu76Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Lys145Glu Uncertain significance Single submitter
-
HDAC8 p.Lys239Asn
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Lys286Arg Uncertain significance Single submitter
-
HDAC8 p.Met196Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
HDAC8 p.Met196Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Phe208Leu Uncertain significance Single submitter
- HDAC8 p.Phe277Cys Uncertain significance Single submitter
-
HDAC8 p.Phe277Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Pro209Ala Uncertain significance Single submitter
-
HDAC8 p.Pro35Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Ser10Asn
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Ser328Phe Uncertain significance Single submitter
- HDAC8 p.Ser39Thr Uncertain significance Single submitter
- HDAC8 p.Thr192Ala Uncertain significance Single submitter
-
HDAC8 p.Thr192Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Thr197Asn
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Thr326Ala
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Trp137Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Tyr111His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Tyr368Phe Uncertain significance Single submitter
-
HDAC8 p.Val133Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Val185Ala Uncertain significance Single submitter
-
HDAC8 p.Val214Met
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Val251Ile Uncertain significance Single submitter
- HDAC8 p.Val282Leu Uncertain significance Single submitter
-
HDAC8 p.Val61Gly
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Gly304Glu
Uncertain significance
No assertion criteria
Cornelia de Lange syndrome 5
Predictors split 12
The independent predictors disagree with each other — read with care.
-
HDAC8 p.Val376Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
HDAC8 p.Ala266Pro
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Asn256Ile
Likely benign
Single submitter
Cornelia de Lange syndrome 5
- HDAC8 p.Asp147Gly Uncertain significance Single submitter
-
HDAC8 p.Cys244Tyr
Conflicting
Single submitter
Inborn genetic diseases
-
HDAC8 p.Gly285Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Gly371Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Ile45Thr
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Leu155Phe
Uncertain significance
Single submitter
intellectual disability
- HDAC8 p.Leu288Phe Likely pathogenic Single submitter
-
HDAC8 p.Met274Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
-
HDAC8 p.Pro35Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 5
All HDAC8 variants
Pathogenic 43
- c.165-2A>G Multiple submitters Cornelia de Lange syndrome 5
- c.738-1G>A Multiple submitters Cornelia de Lange syndrome 5
- p.Arg164Ter Multiple submitters Inborn genetic diseases
- p.Arg166Ter Multiple submitters Inborn genetic diseases
- p.Arg313Ter Multiple submitters Cornelia de Lange syndrome 5
- p.Asn156Ser Multiple submitters Cornelia de Lange syndrome 5
- p.Gln263Ter Multiple submitters Cornelia de Lange syndrome 5
- p.Ile45fs Multiple submitters Cornelia de Lange syndrome 5
- p.Thr119Arg Multiple submitters Cornelia de Lange syndrome 5
- p.Thr119Met Multiple submitters Cornelia de Lange syndrome 5
- c.1112-4_1116del Single submitter Cornelia de Lange syndrome 1
- c.164+2dup Single submitter Cornelia de Lange syndrome 5
- c.164+5G>A Single submitter HDAC8-related disorder
- c.165-1G>A Single submitter Cornelia de Lange syndrome 5
- c.295+2T>G Single submitter Cornelia de Lange syndrome 5
- c.(437+143_438-4 Single submitter Cornelia de Lange syndrome 5
- c.550+1G>T Single submitter Cornelia de Lange syndrome 5
- c.738-1del Single submitter
- c.910+1G>A Single submitter
- c.910+1G>T Single submitter
- c.911delG Single submitter Inborn genetic diseases
- p.Ala118fs Single submitter intellectual disability
- p.Gln77Ter Single submitter Cornelia de Lange syndrome 5
- p.Glu250fs Single submitter Cornelia de Lange syndrome 5
- p.Glu65Ter Single submitter Inborn genetic diseases
- p.Gly303Ter Single submitter
- p.Gly304Arg Single submitter HDAC8-related disorders
- p.His71Tyr Single submitter
- p.Lys194fs Single submitter
- p.Met67Thr Single submitter Cornelia de Lange syndrome 5
- p.Phe70fs Single submitter Cornelia de Lange syndrome 5
- p.Pro35fs Single submitter Cornelia de Lange syndrome 5
- p.Ser43_Leu44insTer Single submitter Cornelia de Lange syndrome 5
- p.Thr319Ile Single submitter Cornelia de Lange syndrome 5
- p.Trp294Ter Single submitter Cornelia de Lange syndrome 5
- p.Tyr174Ter Single submitter Cornelia de Lange syndrome 5
- p.Tyr252fs Single submitter Inborn genetic diseases
- p.Tyr317Ter Single submitter
- p.Val25_Ser26insTer Single submitter Cornelia de Lange syndrome 5
- p.Asp157Glu No assertion criteria Cornelia de Lange syndrome 5
- p.Cys28fs No assertion criteria Cornelia de Lange syndrome 5
- p.His180Arg No assertion criteria Cornelia de Lange syndrome 5
- p.His334Arg No assertion criteria Cornelia de Lange syndrome 5
Pathogenic/Likely pathogenic 4
- c.738-2A>G Multiple submitters Cornelia de Lange syndrome 5
- p.Ala188Thr Multiple submitters intellectual disability
- p.Arg37Gln Multiple submitters Cornelia de Lange syndrome 5
- p.Thr311Met Multiple submitters HDAC8-related disorders
Likely pathogenic 55
- c.1005+2T>C Single submitter Cornelia de Lange syndrome 5
- c.1006-2A>G Single submitter Cornelia de Lange syndrome 5
- c.111+1G>C Single submitter Cornelia de Lange syndrome 5
- c.112-1G>T Single submitter Cornelia de Lange syndrome 5
- c.164_164+1delinsCT Single submitter
- c.550+1G>C Single submitter Inborn genetic diseases
- c.551-1G>C Single submitter Cornelia de Lange syndrome 5
- c.628+5G>T Single submitter Cornelia de Lange syndrome 5
- c.629-1G>A Single submitter Inborn genetic diseases
- c.737+1G>A Single submitter Cornelia de Lange syndrome 5
- c.911-17A>G Single submitter Inborn genetic diseases
- p.Ala122fs Single submitter Cornelia de Lange syndrome 5
- p.Ala266Pro Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Arg55Met Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Asp128Ter Single submitter
- p.Asp267Asn Single submitter Cornelia de Lange syndrome 5
- p.Cys125Ter Single submitter Cornelia de Lange syndrome 5
- p.Gln80Ter Single submitter HDAC8-related disorders
- p.Glu186Lys Single submitter Cornelia de Lange syndrome 5
- p.Gly139Arg Single submitter neurodevelopmental disorder
- p.Gly140Val Single submitter
- p.Gly184fs Single submitter Cornelia de Lange syndrome 5
- p.Gly212Val Single submitter
- p.Gly218Asp Single submitter intellectual disability
- p.Gly265Arg Single submitter Cornelia de Lange syndrome 5
- p.His142Tyr Single submitter Cornelia de Lange syndrome 5
- p.His201Tyr Single submitter
- p.Ile45Thr Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Leu288Phe Single submitter ⚠
- p.Leu346Pro Single submitter
- p.Lys289fs Single submitter HDAC8-related disorders
- p.Pro257His Single submitter Cornelia de Lange syndrome 5
- p.Pro257Ser Single submitter Cornelia de Lange syndrome 5
- p.Ser199Phe Single submitter Cornelia de Lange syndrome 5
- p.Ser199Thr Single submitter
- p.Thr105fs Single submitter HDAC8-related disorders
- p.Thr280_Pro281delinsSer Single submitter Cornelia de Lange syndrome 5
- p.Thr280Ile Single submitter
- p.Thr311Lys Single submitter Cornelia de Lange syndrome 5
- p.Thr326_Pro332del Single submitter Cornelia de Lange syndrome 5
- p.Thr338fs Single submitter Cornelia de Lange syndrome 5
- p.Trp141Ter Single submitter Cornelia de Lange syndrome 5
- p.Trp315Arg Single submitter Cornelia de Lange syndrome 5
- p.Tyr154Ter Single submitter Cornelia de Lange syndrome 5
- p.Tyr240Ter Single submitter Cornelia de Lange syndrome 5
- p.Tyr340Ser Single submitter Cornelia de Lange syndrome 5
- p.Val195Asp Single submitter Cornelia de Lange syndrome 5
- p.Val195Gly Single submitter polycystic kidney disease
- p.Val41Glu Single submitter Inborn genetic diseases
- p.Val41Met Single submitter
- c.618_628+1del No assertion criteria Cornelia de Lange syndrome 5
- p.Asp101Gly No assertion criteria Cornelia de Lange syndrome 5
- p.Asp176Gly No assertion criteria Cornelia de Lange syndrome 5
- p.Cys287Arg No assertion criteria Cornelia de Lange syndrome 5
- p.Tyr306Cys No assertion criteria
Conflicting classifications of pathogenicity 13
- c.111+6G>A Single submitter Cornelia de Lange syndrome 5
- c.1111+1G>A Single submitter Inborn genetic diseases ⚠
- p.Ala8Thr Single submitter Inborn genetic diseases ⚠
- p.Arg223Trp Single submitter HDAC8-related disorders ⚠
- p.Arg361Ter Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Asn156Asp Single submitter intellectual disability ⚠
- p.Cys244Tyr Single submitter Inborn genetic diseases ⚠
- p.Gly139Ala Single submitter Inborn genetic diseases ⚠
- p.Gly320Arg Single submitter Inborn genetic diseases ⚠
- p.Ile94Thr Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Met27Thr Single submitter Inborn genetic diseases ⚠
- p.Pro7_Ala8insGluGluPro Single submitter Cornelia de Lange syndrome 5
- p.Ser351Thr Single submitter Cornelia de Lange syndrome 5
Benign 30
- c.111+40T>G Multiple submitters
- c.111+46T>G Multiple submitters
- c.1112-42A>G Multiple submitters
- c.112-17del Multiple submitters Cornelia de Lange syndrome 5
- c.165-136A>G Multiple submitters
- c.438-15C>T Multiple submitters Cornelia de Lange syndrome 5
- p.Gln53= Multiple submitters Inborn genetic diseases
- p.Gly117= Multiple submitters Cornelia de Lange syndrome 5
- p.Ile172= Multiple submitters Cornelia de Lange syndrome 5
- c.1006-4A>G Single submitter Cornelia de Lange syndrome 5
- c.1111+10G>T Single submitter Cornelia de Lange syndrome 5
- c.1111+16C>T Single submitter Cornelia de Lange syndrome 5
- c.164+19A>T Single submitter Cornelia de Lange syndrome 5
- c.295+13C>T Single submitter Cornelia de Lange syndrome 5
- c.438-17A>G Single submitter Cornelia de Lange syndrome 5
- c.438-329C>A Single submitter
- c.910+17G>T Single submitter Cornelia de Lange syndrome 5
- p.Ala158= Single submitter Cornelia de Lange syndrome 5
- p.Arg223= Single submitter Cornelia de Lange syndrome 5
- p.Arg361Gln Single submitter Cornelia de Lange syndrome 5
- p.Gln124= Single submitter Cornelia de Lange syndrome 5
- p.Ile56Val Single submitter Cornelia de Lange syndrome 5
- p.Pro4= Single submitter Cornelia de Lange syndrome 5
- p.Pro4Leu Single submitter Cornelia de Lange syndrome 5
- p.Pro7Gln Single submitter Cornelia de Lange syndrome 5
- p.Pro7Leu Single submitter
- p.Ser328= Single submitter Cornelia de Lange syndrome 5
- p.Thr119= Single submitter Cornelia de Lange syndrome 5
- p.Thr311= Single submitter Cornelia de Lange syndrome 5
- p.Tyr174= Single submitter Cornelia de Lange syndrome 5
Benign/Likely benign 12
- c.111+20A>C Multiple submitters Cornelia de Lange syndrome 5
- c.1111+9C>T Multiple submitters Cornelia de Lange syndrome 5
- c.112-18_112-17dup Multiple submitters Cornelia de Lange syndrome 5
- c.112-29dup Multiple submitters Inborn genetic diseases
- c.911-5G>C Multiple submitters Cornelia de Lange syndrome 5
- p.Arg164Gln Multiple submitters Cornelia de Lange syndrome 5
- p.Asp213= Multiple submitters Inborn genetic diseases
- p.Ile19= Multiple submitters Inborn genetic diseases
- p.Pro7Arg Multiple submitters Inborn genetic diseases
- p.Thr349= Multiple submitters Cornelia de Lange syndrome 5
- p.Thr69Asn Multiple submitters Cornelia de Lange syndrome 5
- p.Val57Ile Multiple submitters Cornelia de Lange syndrome 5
Likely benign 125
- c.1006-70T>C Multiple submitters
- c.111+34T>G Multiple submitters
- c.1111+17G>A Multiple submitters Cornelia de Lange syndrome 5
- c.164+186G>C Multiple submitters
- c.165-151G>A Multiple submitters
- p.Ala114= Multiple submitters Cornelia de Lange syndrome 5
- p.Arg164Leu Multiple submitters Inborn genetic diseases
- p.Arg167Trp Multiple submitters Inborn genetic diseases
- p.Asp128= Multiple submitters Cornelia de Lange syndrome 5
- p.His143= Multiple submitters Cornelia de Lange syndrome 5
- p.Ile369Val Multiple submitters Inborn genetic diseases
- p.Ile45= Multiple submitters Cornelia de Lange syndrome 5
- p.Pro205= Multiple submitters Cornelia de Lange syndrome 5
- p.Thr319= Multiple submitters Cornelia de Lange syndrome 5
- p.Thr349Met Multiple submitters Inborn genetic diseases
- p.Tyr252= Multiple submitters Cornelia de Lange syndrome 5
- c.1006-9T>C Single submitter Cornelia de Lange syndrome 5
- c.111+10G>A Single submitter Cornelia de Lange syndrome 5
- c.111+14G>C Single submitter Cornelia de Lange syndrome 5
- c.111+20A>G Single submitter Cornelia de Lange syndrome 5
- c.111+7G>A Single submitter Cornelia de Lange syndrome 5
- c.1111+128C>T Single submitter
- c.1111+131C>A Single submitter
- c.1111+13C>T Single submitter Cornelia de Lange syndrome 5
- c.1111+17del Single submitter Cornelia de Lange syndrome 5
- c.1111+20G>T Single submitter Cornelia de Lange syndrome 5
- c.1112-10_1112-9del Single submitter Cornelia de Lange syndrome 5
- c.1112-11C>G Single submitter Cornelia de Lange syndrome 5
- c.1112-5T>G Single submitter Cornelia de Lange syndrome 5
- c.1112-626C>T Single submitter
- c.112-10_112-8del Single submitter Cornelia de Lange syndrome 5
- c.112-10A>G Single submitter Cornelia de Lange syndrome 5
- c.112-11G>T Single submitter Cornelia de Lange syndrome 5
- c.112-14G>A Single submitter Cornelia de Lange syndrome 5
- c.112-14G>T Single submitter Cornelia de Lange syndrome 5
- c.112-17T>C Single submitter Cornelia de Lange syndrome 5
- c.112-18_112-17del Single submitter
- c.164+9T>C Single submitter Cornelia de Lange syndrome 5
- c.165-11G>A Single submitter Cornelia de Lange syndrome 5
- c.165-305A>C Single submitter
- c.296-12T>G Single submitter Cornelia de Lange syndrome 5
- c.296-13T>C Single submitter Cornelia de Lange syndrome 5
- c.296-14A>G Single submitter Cornelia de Lange syndrome 5
- c.296-6C>T Single submitter Cornelia de Lange syndrome 5
- c.437+105G>T Single submitter
- c.437+13C>G Single submitter Cornelia de Lange syndrome 5
- c.437+14C>T Single submitter Cornelia de Lange syndrome 5
- c.437+16_437+19del Single submitter Cornelia de Lange syndrome 5
- c.437+74A>G Single submitter
- c.437+82G>A Single submitter
- c.550+12G>A Single submitter
- c.550+13G>A Single submitter
- c.550+7C>T Single submitter Cornelia de Lange syndrome 5
- c.550+9T>G Single submitter Cornelia de Lange syndrome 5
- c.551-169C>T Single submitter
- c.551-17G>A Single submitter Cornelia de Lange syndrome 5
- c.628+20G>A Single submitter Cornelia de Lange syndrome 5
- c.628+7G>A Single submitter Cornelia de Lange syndrome 5
- c.628+7G>T Single submitter Cornelia de Lange syndrome 5
- c.628+8A>G Single submitter Cornelia de Lange syndrome 5
- c.629-11C>G Single submitter Cornelia de Lange syndrome 5
- c.629-14C>T Single submitter Cornelia de Lange syndrome 5
- c.629-16C>T Single submitter Cornelia de Lange syndrome 5
- c.629-18T>C Single submitter Cornelia de Lange syndrome 5
- c.629-19G>A Single submitter Cornelia de Lange syndrome 5
- c.737+16_737+28del Single submitter Cornelia de Lange syndrome 5
- c.737+18G>T Single submitter Cornelia de Lange syndrome 5
- c.738-17del Single submitter Cornelia de Lange syndrome 5
- c.738-4A>G Single submitter Cornelia de Lange syndrome 5
- c.738-5T>C Single submitter
- c.738-6A>G Single submitter Cornelia de Lange syndrome 5
- c.738-9954C>T Single submitter
- c.738-9960A>T Single submitter
- c.738-9967T>C Single submitter
- c.910+20A>G Single submitter Cornelia de Lange syndrome 5
- c.911-13T>C Single submitter Cornelia de Lange syndrome 5
- c.*13G>T Single submitter
- p.Ala104= Single submitter Cornelia de Lange syndrome 5
- p.Ala118= Single submitter Cornelia de Lange syndrome 5
- p.Ala309= Single submitter Cornelia de Lange syndrome 5
- p.Ala47= Single submitter Cornelia de Lange syndrome 5
- p.Arg353Gln Single submitter Cornelia de Lange syndrome 5
- p.Arg356= Single submitter Cornelia de Lange syndrome 5
- p.Arg356Cys Single submitter Cornelia de Lange syndrome 5
- p.Arg361= Single submitter Cornelia de Lange syndrome 5
- p.Asn256Ile Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Asn278= Single submitter Cornelia de Lange syndrome 5
- p.Asn310= Single submitter Cornelia de Lange syndrome 5
- p.Asp110= Single submitter Cornelia de Lange syndrome 5
- p.Asp187= Single submitter Cornelia de Lange syndrome 5
- p.Cys102= Single submitter Cornelia de Lange syndrome 5
- p.Cys314= Single submitter
- p.Glu106= Single submitter Cornelia de Lange syndrome 5
- p.Glu170= Single submitter Cornelia de Lange syndrome 5
- p.Glu186= Single submitter Cornelia de Lange syndrome 5
- p.Gly222= Single submitter Cornelia de Lange syndrome 5
- p.Gly305= Single submitter Cornelia de Lange syndrome 5
- p.Gly324= Single submitter Cornelia de Lange syndrome 5
- p.His201= Single submitter Cornelia de Lange syndrome 5
- p.His71= Single submitter Cornelia de Lange syndrome 5
- p.Ile127= Single submitter Cornelia de Lange syndrome 5
- p.Leu163= Single submitter Cornelia de Lange syndrome 5
- p.Leu173= Single submitter Cornelia de Lange syndrome 5
- p.Leu219= Single submitter Cornelia de Lange syndrome 5
- p.Leu31= Single submitter Cornelia de Lange syndrome 5
- p.Lys249= Single submitter Cornelia de Lange syndrome 5
- p.Pro22= Single submitter Cornelia de Lange syndrome 5
- p.Pro257= Single submitter Cornelia de Lange syndrome 5
- p.Pro332= Single submitter Cornelia de Lange syndrome 5
- p.Pro7= Single submitter Cornelia de Lange syndrome 5
- p.Ser276= Single submitter Cornelia de Lange syndrome 5
- p.Ser351= Single submitter Cornelia de Lange syndrome 5
- p.Thr121= Single submitter
- p.Thr197= Single submitter Cornelia de Lange syndrome 5
- p.Thr268= Single submitter
- p.Thr298= Single submitter Cornelia de Lange syndrome 5
- p.Thr316= Single submitter Cornelia de Lange syndrome 5
- p.Thr69= Single submitter Cornelia de Lange syndrome 5
- p.Tyr317= Single submitter Cornelia de Lange syndrome 5
- p.Tyr368= Single submitter Cornelia de Lange syndrome 5
- p.Tyr75= Single submitter Cornelia de Lange syndrome 5
- p.Val15= Single submitter Cornelia de Lange syndrome 5
- p.Val159= Single submitter Cornelia de Lange syndrome 5
- p.Val175= Single submitter Cornelia de Lange syndrome 5
- p.Val41= Single submitter Cornelia de Lange syndrome 5
Uncertain significance 120
- c.737+3A>G Multiple submitters Cornelia de Lange syndrome 5
- c.738-1619G>A Multiple submitters Cornelia de Lange syndrome 5
- p.Arg167Pro Multiple submitters Cornelia de Lange syndrome 5 ⚠
- p.Asp128Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp88Asn Multiple submitters Cornelia de Lange syndrome 5 ⚠
- p.Glu66Asp Multiple submitters Cornelia de Lange syndrome 5 ⚠
- p.Ile362Thr Multiple submitters Inborn genetic diseases
- p.Leu308Phe Multiple submitters Cornelia de Lange syndrome 5 ⚠
- p.Lys168Glu Multiple submitters Inborn genetic diseases
- p.Lys258Glu Multiple submitters Cornelia de Lange syndrome 5 ⚠
- p.Met279Val Multiple submitters Inborn genetic diseases ⚠
- p.Tyr340Cys Multiple submitters Cornelia de Lange syndrome 5 ⚠
- p.Val15Ile Multiple submitters Cornelia de Lange syndrome 5 ⚠
- p.Val321Leu Multiple submitters Cornelia de Lange syndrome 5 ⚠
- p.Val376Met Multiple submitters Inborn genetic diseases ⚠
- c.1005+2dup Single submitter Inborn genetic diseases
- c.1005+5G>A Single submitter Cornelia de Lange syndrome 5
- c.1111+3G>T Single submitter Cornelia de Lange syndrome 5
- c.1111+4A>G Single submitter Cornelia de Lange syndrome 5
- c.1111+6C>T Single submitter Cornelia de Lange syndrome 5
- c.1112-2A>G Single submitter Cornelia de Lange syndrome 5
- c.1112-599T>C Single submitter
- c.164+4del Single submitter Cornelia de Lange syndrome 5
- c.296-13T>G Single submitter Cornelia de Lange syndrome 5
- c.628+5G>A Single submitter
- c.628+5G>C Single submitter
- c.737+6G>A Single submitter Cornelia de Lange syndrome 5
- c.738-8598T>C Single submitter
- c.738-9969T>C Single submitter Cornelia de Lange syndrome 5
- c.911-3C>T Single submitter Cornelia de Lange syndrome 5
- c.-5G>T Single submitter Cornelia de Lange syndrome 5
- p.Ala104Thr Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ala104Val Single submitter ⚠
- p.Ala149Pro Single submitter ⚠
- p.Ala158Val Single submitter ⚠
- p.Ala297Pro Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ala309Ser Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ala312Ser Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ala8= Single submitter Cornelia de Lange syndrome 5
- p.Ala8Glu Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Arg166Gln Single submitter
- p.Arg167Gln Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Arg171His Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Arg313Gln Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Arg37= Single submitter Cornelia de Lange syndrome 5
- p.Arg55Thr Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Asn228Ile Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Asn372Asp Single submitter ⚠
- p.Asp147Gly Single submitter ⚠
- p.Asp147Val Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Asp176Asn Single submitter ⚠
- p.Asp272Asn Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Asp272Gly Single submitter ⚠
- p.Asp355Tyr Single submitter ⚠
- p.Cys102_Ala104delinsTrpProVal Single submitter
- p.Cys102Arg Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Cys102Trp Single submitter ⚠
- p.Cys352Tyr Single submitter Cornelia de Lange syndrome 5
- p.Glu106del Single submitter
- p.Glu170Lys Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Glu23Ala Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Glu2Ter Single submitter
- p.Glu3Ala Single submitter ⚠
- p.Glu66Lys Single submitter Inborn genetic diseases ⚠
- p.Glu95Gln Single submitter ⚠
- p.Gly107Glu Single submitter ⚠
- p.Gly117Arg Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Gly11Arg Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Gly140Arg Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Gly218Arg Single submitter ⚠
- p.Gly222Glu Single submitter ⚠
- p.Gly285Val Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Gly305Asp Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Gly324Glu Single submitter ⚠
- p.Gly371Arg Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Gly97= Single submitter Cornelia de Lange syndrome 5
- p.His201Leu Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ile115Val Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ile135Val Single submitter ⚠
- p.Ile300Leu Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ile331= Single submitter
- p.Leu155Phe Single submitter intellectual disability ⚠
- p.Leu299Phe Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Leu373Met Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Leu44Phe Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Leu76Pro Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Lys145Glu Single submitter ⚠
- p.Lys239Asn Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Lys286Arg Single submitter ⚠
- p.Met196Ile Single submitter Inborn genetic diseases ⚠
- p.Met196Thr Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Met274Ile Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Phe208Leu Single submitter ⚠
- p.Phe277Cys Single submitter ⚠
- p.Phe277Leu Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Pro209Ala Single submitter ⚠
- p.Pro35Leu Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Pro35Thr Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ser10Asn Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Ser246= Single submitter Cornelia de Lange syndrome 5
- p.Ser328Phe Single submitter ⚠
- p.Ser39Thr Single submitter ⚠
- p.Thr192Ala Single submitter ⚠
- p.Thr192Ile Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Thr197Asn Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Thr326Ala Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Trp137Leu Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Trp141del Single submitter Cornelia de Lange syndrome 5
- p.Tyr111His Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Tyr368Phe Single submitter ⚠
- p.Val133Ile Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Val185Ala Single submitter ⚠
- p.Val214Met Single submitter Cornelia de Lange syndrome 5 ⚠
- p.Val251Ile Single submitter ⚠
- p.Val282Leu Single submitter ⚠
- p.Val61Gly Single submitter Cornelia de Lange syndrome 5 ⚠
- c.437+103G>C No assertion criteria HDAC8-related disorder
- c.437+9del No assertion criteria
- c.738-9981del No assertion criteria
- p.Gly304Glu No assertion criteria Cornelia de Lange syndrome 5 ⚠