BRD4 — 922 ClinVar variants
All ClinVar germline BRD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 374 flagged for review →
14 Pathogenic · 18 Likely pathogenic · 16 Conflicting · 72 Benign · 14 Benign/Likely benign · 380 Likely benign · 408 Uncertain significance
Full BRD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 374
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 8
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BRD4 p.Asn582Ser
Conflicting
Single submitter
Inborn genetic diseases
- BRD4 p.Asp1267Glu Conflicting Single submitter
-
BRD4 p.Gly691Ser
Conflicting
Single submitter
Inborn genetic diseases
-
BRD4 p.Ile173Val
Conflicting
Single submitter
Inborn genetic diseases
- BRD4 p.Ile820Val Conflicting Single submitter
-
BRD4 p.Pro310Thr
Conflicting
Single submitter
Inborn genetic diseases
-
BRD4 p.Thr249Met
Conflicting
Single submitter
Inborn genetic diseases
-
BRD4 p.Val193Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 156
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 156
-
BRD4 p.Ala220Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Ala409Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Ala565Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Gly6Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Ile300Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Lys685Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Pro216Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Pro307Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Ser578Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Ser611Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Thr200Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Thr295Pro
Uncertain significance
Multiple submitters
mental disorder
-
BRD4 p.Thr573Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Thr9Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BRD4 p.Ala1034Gly Uncertain significance Single submitter
- BRD4 p.Ala1169Thr Uncertain significance Single submitter
- BRD4 p.Ala1189Val Uncertain significance Single submitter
- BRD4 p.Ala1308Thr Uncertain significance Single submitter
-
BRD4 p.Ala262Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Ala276Val Uncertain significance Single submitter
- BRD4 p.Ala292Gly Uncertain significance Single submitter
- BRD4 p.Ala33Val Uncertain significance Single submitter
- BRD4 p.Ala3Val Uncertain significance Single submitter
- BRD4 p.Ala40Ser Uncertain significance Single submitter
- BRD4 p.Ala40Thr Uncertain significance Single submitter
- BRD4 p.Ala40Val Uncertain significance Single submitter
- BRD4 p.Ala41Val Uncertain significance Single submitter
- BRD4 p.Ala467Val Uncertain significance Single submitter
-
BRD4 p.Ala589Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Ala683Thr Uncertain significance Single submitter
- BRD4 p.Ala792Glu Uncertain significance Single submitter
- BRD4 p.Ala792Val Uncertain significance Single submitter
- BRD4 p.Ala855Thr Uncertain significance Single submitter
- BRD4 p.Ala865Thr Uncertain significance Single submitter
- BRD4 p.Arg1047Gln Uncertain significance Single submitter
- BRD4 p.Arg1060His Uncertain significance Single submitter
- BRD4 p.Arg1097Pro Uncertain significance Single submitter
- BRD4 p.Arg113His Uncertain significance Single submitter
- BRD4 p.Arg1338Gln Uncertain significance Single submitter
- BRD4 p.Arg444Leu Uncertain significance Single submitter
-
BRD4 p.Arg616Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Arg632His Uncertain significance Single submitter
-
BRD4 p.Asn577Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Asn580Lys Uncertain significance Single submitter
-
BRD4 p.Asp145Gly
Uncertain significance
Single submitter
neurodevelopmental disorder
-
BRD4 p.Asp231Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Asp231Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Asp231Glu Uncertain significance Single submitter
-
BRD4 p.Asp655Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Asp88Val Uncertain significance Single submitter
-
BRD4 p.Cys391Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Gln1077Arg Uncertain significance Single submitter
- BRD4 p.Gln1167His Uncertain significance Single submitter
-
BRD4 p.Gln127Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Gln1316Leu Uncertain significance Single submitter
- BRD4 p.Gln339Glu Uncertain significance Single submitter
-
BRD4 p.Gln517Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Gln735Arg Uncertain significance Single submitter
- BRD4 p.Gln84Arg Uncertain significance Single submitter
-
BRD4 p.Glu704Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Glu917Gly Uncertain significance Single submitter
- BRD4 p.Gly1016Val Uncertain significance Single submitter
- BRD4 p.Gly1057Ser Uncertain significance Single submitter
- BRD4 p.Gly821Ser Uncertain significance Single submitter
- BRD4 p.His1007Gln Uncertain significance Single submitter
- BRD4 p.His1058Arg Uncertain significance Single submitter
-
BRD4 p.His388Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome
- BRD4 p.His551Gln Uncertain significance Single submitter
- BRD4 p.His822Asn Uncertain significance Single submitter
- BRD4 p.His854Leu Uncertain significance Single submitter
- BRD4 p.Ile1356Val Uncertain significance Single submitter
-
BRD4 p.Ile275Met
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Ile300Thr Uncertain significance Single submitter
- BRD4 p.Ile820Asn Uncertain significance Single submitter
- BRD4 p.Leu1059Phe Uncertain significance Single submitter
- BRD4 p.Leu232Val Uncertain significance Single submitter
-
BRD4 p.Leu309Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Leu318Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Leu525Pro Uncertain significance Single submitter
- BRD4 p.Leu828Met Uncertain significance Single submitter
- BRD4 p.Leu835Val Uncertain significance Single submitter
- BRD4 p.Leu945Val Uncertain significance Single submitter
- BRD4 p.Lys1135Arg Uncertain significance Single submitter
- BRD4 p.Lys1192Arg Uncertain significance Single submitter
- BRD4 p.Lys355Arg Uncertain significance Single submitter
-
BRD4 p.Lys431Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 1
- BRD4 p.Lys606Thr Uncertain significance Single submitter
- BRD4 p.Lys937Arg Uncertain significance Single submitter
- BRD4 p.Met105Val Uncertain significance Single submitter
- BRD4 p.Met1260Ile Uncertain significance Single submitter
-
BRD4 p.Met172Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Met239Val Uncertain significance Single submitter
- BRD4 p.Met425Ile Uncertain significance Single submitter
- BRD4 p.Met695Thr Uncertain significance Single submitter
- BRD4 p.Met721Val Uncertain significance Single submitter
- BRD4 p.Met793Thr Uncertain significance Single submitter
- BRD4 p.Met905Val Uncertain significance Single submitter
- BRD4 p.Met926Ile Uncertain significance Single submitter
- BRD4 p.Pro1065Arg Uncertain significance Single submitter
- BRD4 p.Pro1084Ser Uncertain significance Single submitter
- BRD4 p.Pro1170Arg Uncertain significance Single submitter
- BRD4 p.Pro1170Leu Uncertain significance Single submitter
- BRD4 p.Pro206Leu Uncertain significance Single submitter
-
BRD4 p.Pro273Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Pro302Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Pro311Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Pro37Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Pro569Ser Uncertain significance Single submitter
- BRD4 p.Pro596Arg Uncertain significance Single submitter
-
BRD4 p.Pro649Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome
- BRD4 p.Pro661Leu Uncertain significance Single submitter
- BRD4 p.Pro7Arg Uncertain significance Single submitter
- BRD4 p.Pro837Ala Uncertain significance Single submitter
- BRD4 p.Pro848Leu Uncertain significance Single submitter
- BRD4 p.Pro859Ser Uncertain significance Single submitter
- BRD4 p.Pro860Arg Uncertain significance Single submitter
- BRD4 p.Pro887Ala Uncertain significance Single submitter
- BRD4 p.Pro918Ser Uncertain significance Single submitter
- BRD4 p.Pro943Gln Uncertain significance Single submitter
- BRD4 p.Pro955Gln Uncertain significance Single submitter
- BRD4 p.Ser1078Gly Uncertain significance Single submitter
-
BRD4 p.Ser194Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Ser270Thr Uncertain significance Single submitter
- BRD4 p.Ser308Leu Uncertain significance Single submitter
-
BRD4 p.Ser348Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Ser581Asn Uncertain significance Single submitter
- BRD4 p.Ser5Asn Uncertain significance Single submitter
- BRD4 p.Ser601Trp Uncertain significance Single submitter
- BRD4 p.Ser699Trp Uncertain significance Single submitter
-
BRD4 p.Ser712Phe
Uncertain significance
Single submitter
Cornelia de Lange syndrome
- BRD4 p.Thr1006Pro Uncertain significance Single submitter
- BRD4 p.Thr1056Ile Uncertain significance Single submitter
- BRD4 p.Thr1309Ala Uncertain significance Single submitter
- BRD4 p.Thr1309Ser Uncertain significance Single submitter
-
BRD4 p.Thr188Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Thr188Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Thr200Ala Uncertain significance Single submitter
- BRD4 p.Thr236Ala Uncertain significance Single submitter
-
BRD4 p.Thr294Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Thr295Ile Uncertain significance Single submitter
- BRD4 p.Thr43Ala Uncertain significance Single submitter
-
BRD4 p.Thr573Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Thr598Ser Uncertain significance Single submitter
- BRD4 p.Tyr118His Uncertain significance Single submitter
-
BRD4 p.Tyr390Cys
Uncertain significance
Single submitter
Learning Disabilities, Adolescent
- BRD4 p.Tyr98Cys Uncertain significance Single submitter
- BRD4 p.Val1089Ile Uncertain significance Single submitter
-
BRD4 p.Val193Leu
Uncertain significance
Single submitter
BRD4-related disorder
-
BRD4 p.Val234Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Val268Leu Uncertain significance Single submitter
Predictors split 210
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 210
- BRD4 p.Ala1248Val Benign/Likely benign Multiple submitters
- BRD4 p.Asp337Asn Uncertain significance Multiple submitters
-
BRD4 p.Asp497Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Gln32Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BRD4 p.Glu1270Asp Likely benign Multiple submitters
- BRD4 p.Glu1326Asp Benign Multiple submitters
-
BRD4 p.Glu715Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Glu718Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BRD4 p.His1021Asn Benign Multiple submitters
- BRD4 p.Pro1023Ser Likely benign Multiple submitters
-
BRD4 p.Pro224Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BRD4 p.Pro252Arg Benign/Likely benign Multiple submitters
-
BRD4 p.Pro254Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Pro483Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BRD4 p.Val583Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BRD4 p.Ala1272Thr Uncertain significance Single submitter
- BRD4 p.Ala1302Ser Uncertain significance Single submitter
- BRD4 p.Ala1302Val Likely benign Single submitter
- BRD4 p.Ala1307Thr Uncertain significance Single submitter
- BRD4 p.Ala1308Val Uncertain significance Single submitter
- BRD4 p.Ala371Thr Uncertain significance Single submitter
- BRD4 p.Ala441Val Uncertain significance Single submitter
- BRD4 p.Ala443Gly Uncertain significance Single submitter
- BRD4 p.Ala527Ser Uncertain significance Single submitter
- BRD4 p.Arg1047Trp Uncertain significance Single submitter
- BRD4 p.Arg1097Cys Uncertain significance Single submitter
- BRD4 p.Arg1121Cys Conflicting Single submitter
- BRD4 p.Arg1130Gln Uncertain significance Single submitter
- BRD4 p.Arg1232Trp Uncertain significance Single submitter
- BRD4 p.Arg1256Trp Uncertain significance Single submitter
- BRD4 p.Arg1273Trp Uncertain significance Single submitter
- BRD4 p.Arg1281Trp Uncertain significance Single submitter
- BRD4 p.Arg1282Cys Uncertain significance Single submitter
- BRD4 p.Arg1290Cys Uncertain significance Single submitter
- BRD4 p.Arg322Trp Uncertain significance Single submitter
-
BRD4 p.Arg326Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Arg410Cys Uncertain significance Single submitter
- BRD4 p.Arg410His Uncertain significance Single submitter
- BRD4 p.Arg413Cys Uncertain significance Single submitter
- BRD4 p.Arg413His Uncertain significance Single submitter
- BRD4 p.Arg453Cys Uncertain significance Single submitter
- BRD4 p.Arg669His Uncertain significance Single submitter
- BRD4 p.Arg676Gln Uncertain significance Single submitter
- BRD4 p.Arg676Trp Uncertain significance Single submitter
- BRD4 p.Arg68Thr Uncertain significance Single submitter
- BRD4 p.Arg872Gln Uncertain significance Single submitter
- BRD4 p.Arg876Gln Uncertain significance Single submitter
-
BRD4 p.Asn117Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Asn54Lys Uncertain significance Single submitter
- BRD4 p.Asn61Ser Uncertain significance Single submitter
- BRD4 p.Asp1052Gly Uncertain significance Single submitter
- BRD4 p.Asp1222Asn Uncertain significance Single submitter
- BRD4 p.Asp293Glu Uncertain significance Single submitter
- BRD4 p.Asp487Asn Uncertain significance Single submitter
- BRD4 p.Asp502Asn Uncertain significance Single submitter
- BRD4 p.Asp621Asn Uncertain significance Single submitter
- BRD4 p.Gln1003Arg Uncertain significance Single submitter
- BRD4 p.Gln1038Arg Uncertain significance Single submitter
- BRD4 p.Gln1295Leu Uncertain significance Single submitter
- BRD4 p.Gln1295Lys Uncertain significance Single submitter
- BRD4 p.Gln1311Glu Uncertain significance Single submitter
-
BRD4 p.Gln159Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Gln219Glu Uncertain significance Single submitter
-
BRD4 p.Gln32Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Gln524Glu Uncertain significance Single submitter
- BRD4 p.Gln788Arg Uncertain significance Single submitter
- BRD4 p.Gln973Arg Uncertain significance Single submitter
- BRD4 p.Glu1123Lys Uncertain significance Single submitter
- BRD4 p.Glu1132Asp Uncertain significance Single submitter
- BRD4 p.Glu1225Lys Uncertain significance Single submitter
- BRD4 p.Glu1235Val Uncertain significance Single submitter
- BRD4 p.Glu1246Lys Uncertain significance Single submitter
- BRD4 p.Glu1258Gln Uncertain significance Single submitter
- BRD4 p.Glu1266Lys Uncertain significance Single submitter
- BRD4 p.Glu1277Lys Uncertain significance Single submitter
- BRD4 p.Glu1278Lys Uncertain significance Single submitter
-
BRD4 p.Glu602Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Glu628Lys Uncertain significance Single submitter
- BRD4 p.Glu702Gln Uncertain significance Single submitter
- BRD4 p.Glu718Lys Uncertain significance Single submitter
- BRD4 p.Gly1158Glu Uncertain significance Single submitter
- BRD4 p.Gly1173Arg Uncertain significance Single submitter
- BRD4 p.Gly180Arg Uncertain significance Single submitter
- BRD4 p.Gly182Trp Uncertain significance Single submitter
-
BRD4 p.Gly732Arg
Conflicting
Single submitter
Cornelia de Lange syndrome 6
- BRD4 p.His1048Asn Uncertain significance Single submitter
- BRD4 p.His1145Tyr Uncertain significance Single submitter
-
BRD4 p.His341Tyr
Likely benign
Single submitter
Developmental disorder
- BRD4 p.Ile1196Thr Uncertain significance Single submitter
- BRD4 p.Ile1345Val Uncertain significance Single submitter
-
BRD4 p.Ile138Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Ile394Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Ile403Val Uncertain significance Single submitter
- BRD4 p.Leu1205Val Uncertain significance Single submitter
- BRD4 p.Leu309Met Uncertain significance Single submitter
- BRD4 p.Leu74Val Uncertain significance Single submitter
- BRD4 p.Lys289Asn Uncertain significance Single submitter
- BRD4 p.Lys362Gln Uncertain significance Single submitter
- BRD4 p.Lys535Asn Uncertain significance Single submitter
- BRD4 p.Lys537Asn Uncertain significance Single submitter
-
BRD4 p.Lys538Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Lys543Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Lys546Asn Uncertain significance Single submitter
- BRD4 p.Lys548Glu Uncertain significance Single submitter
- BRD4 p.Lys592Arg Uncertain significance Single submitter
- BRD4 p.Lys592Glu Uncertain significance Single submitter
- BRD4 p.Lys594Met Uncertain significance Single submitter
-
BRD4 p.Met457Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Pro1011Leu Uncertain significance Single submitter
- BRD4 p.Pro1012Leu Likely benign Single submitter
- BRD4 p.Pro1013Leu Uncertain significance Single submitter
- BRD4 p.Pro1019His Conflicting Single submitter
- BRD4 p.Pro1019Leu Uncertain significance Single submitter
- BRD4 p.Pro1019Ser Uncertain significance Single submitter
- BRD4 p.Pro1024Ser Uncertain significance Single submitter
- BRD4 p.Pro1030Ala Uncertain significance Single submitter
- BRD4 p.Pro1030Gln Uncertain significance Single submitter
- BRD4 p.Pro1030Leu Uncertain significance Single submitter
- BRD4 p.Pro1033Ser Uncertain significance Single submitter
- BRD4 p.Pro1131Leu Uncertain significance Single submitter
- BRD4 p.Pro1154Ser Uncertain significance Single submitter
- BRD4 p.Pro213Arg Uncertain significance Single submitter
- BRD4 p.Pro224Leu Uncertain significance Single submitter
- BRD4 p.Pro230Arg Uncertain significance Single submitter
- BRD4 p.Pro230Ser Uncertain significance Single submitter
-
BRD4 p.Pro252Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Pro255Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BRD4 p.Pro263Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Pro267Arg Uncertain significance Single submitter
- BRD4 p.Pro267Thr Uncertain significance Single submitter
- BRD4 p.Pro279Ser Uncertain significance Single submitter
-
BRD4 p.Pro311Leu
Conflicting
Single submitter
Inborn genetic diseases
-
BRD4 p.Pro46Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- BRD4 p.Pro46Ser Uncertain significance Single submitter
- BRD4 p.Pro471Leu Uncertain significance Single submitter
- BRD4 p.Pro475Leu Uncertain significance Single submitter
-
BRD4 p.Pro482Leu
Conflicting
Single submitter
Inborn genetic diseases
- BRD4 p.Pro53Ser Uncertain significance Single submitter
- BRD4 p.Pro597Leu Uncertain significance Single submitter
-
BRD4 p.Pro681Ser
Uncertain significance
Single submitter
BRD4-related disorder
- BRD4 p.Pro750Leu Uncertain significance Single submitter
- BRD4 p.Pro758Ser Uncertain significance Single submitter
- BRD4 p.Pro759Leu Uncertain significance Single submitter
- BRD4 p.Pro760Arg Uncertain significance Single submitter
- BRD4 p.Pro761Ser Uncertain significance Single submitter
- BRD4 p.Pro764Ala Uncertain significance Single submitter
- BRD4 p.Pro766Leu Uncertain significance Single submitter
- BRD4 p.Pro770Ala Uncertain significance Single submitter
- BRD4 p.Pro770Ser Uncertain significance Single submitter
- BRD4 p.Pro776Leu Uncertain significance Single submitter
All BRD4 variants
Pathogenic 14
- c.1552-1G>A Single submitter Cornelia de Lange syndrome 6
- c.285+1G>T Single submitter Cornelia de Lange syndrome 6
- c.4020+1G>A Single submitter Cornelia de Lange syndrome
- p.Arg1237fs Single submitter intellectual disability
- p.Gln256fs Single submitter
- p.Gln747Ter Single submitter
- p.Glu603Ter Single submitter
- p.Lys1181fs Single submitter
- p.Pro47fs Single submitter
- p.Thr186fs Single submitter
- p.Trp120fs Single submitter
- p.Val465fs Single submitter Inborn genetic diseases
- p.Glu408fs No assertion criteria Cornelia de Lange syndrome 6
- p.Pro919fs No assertion criteria Cornelia de Lange syndrome 6
Likely pathogenic 18
- p.Tyr430Cys Multiple submitters Cornelia de Lange syndrome 6
- c.2211+2T>C Single submitter Cornelia de Lange syndrome 6
- c.3282+2T>C Single submitter Cornelia de Lange-like syndrome
- p.Arg113Leu Single submitter
- p.Gln1105fs Single submitter Cornelia de Lange syndrome 6
- p.Gln235Ter Single submitter mental disorder
- p.Gln910fs Single submitter Cornelia de Lange syndrome 6
- p.Glu1225fs Single submitter syndromic intellectual disability
- p.His77del Single submitter Short stature
- p.Leu958fs Single submitter
- p.Lys678Ter Single submitter Cornelia de Lange syndrome 6
- p.Met132fs Single submitter Cornelia de Lange syndrome 6
- p.Pro1171fs Single submitter syndromic intellectual disability
- p.Pro237fs Single submitter Cornelia de Lange syndrome 6
- p.Pro568fs Single submitter Cornelia de Lange syndrome 6
- p.Val439fs Single submitter Cornelia de Lange syndrome 6
- p.Ile654fs No assertion criteria
- p.Ser619Ile No assertion criteria Short stature
Conflicting classifications of pathogenicity 16
- p.Arg1121Cys Single submitter ⚠
- p.Asn582Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1267Glu Single submitter ⚠
- p.Gly691Ser Single submitter Inborn genetic diseases ⚠
- p.Gly732Arg Single submitter Cornelia de Lange syndrome 6 ⚠
- p.Ile173Val Single submitter Inborn genetic diseases ⚠
- p.Ile820Val Single submitter ⚠
- p.Pro1019His Single submitter ⚠
- p.Pro217del Single submitter
- p.Pro310Thr Single submitter Inborn genetic diseases ⚠
- p.Pro311Leu Single submitter Inborn genetic diseases ⚠
- p.Pro482Leu Single submitter Inborn genetic diseases ⚠
- p.Pro786Ser Single submitter Cornelia de Lange syndrome 6 ⚠
- p.Pro959Leu Single submitter ⚠
- p.Thr249Met Single submitter Inborn genetic diseases ⚠
- p.Val193Ile Single submitter Inborn genetic diseases ⚠
Benign 72
- c.1341+6G>C Multiple submitters
- c.1342-108C>T Multiple submitters
- c.1342-144C>T Multiple submitters
- c.285+44G>T Multiple submitters
- c.3446-34G>A Multiple submitters
- c.4020+9G>T Multiple submitters
- p.Arg1163= Multiple submitters
- p.Asp650= Multiple submitters
- p.Gln747= Multiple submitters
- p.Glu1113del Multiple submitters
- p.Glu1326Asp Multiple submitters ⚠
- p.His1021Asn Multiple submitters ⚠
- p.Leu1107= Multiple submitters
- p.Pro267= Multiple submitters
- p.Pro955= Multiple submitters
- p.Thr1309= Multiple submitters
- c.1212+10A>T Single submitter
- c.1342-8C>T Single submitter
- c.1751+12dup Single submitter
- c.1752-12G>A Single submitter
- c.1752-20T>C Single submitter
- c.2047+89_2047+90dup Single submitter
- c.2047+89dup Single submitter
- c.2048-13G>T Single submitter
- c.2158+1912C>T Single submitter
- c.2158+2292C>T Single submitter
- c.2158+2377G>A Single submitter
- c.2158+2706_2158+2713del Single submitter
- c.2158+2706_2158+2713dup Single submitter
- c.2158+2707_2158+2713dup Single submitter
- c.2158+2707C>G Single submitter
- c.2158+2712_2158+2713dup Single submitter
- c.2158+2908A>T Single submitter
- c.2158+4241A>G Single submitter
- c.2158+767G>A Single submitter
- c.2159-1639C>T Single submitter
- c.2159-3571A>C Single submitter
- c.2159-3595C>G Single submitter
- c.2159-4254del Single submitter
- c.2159-4307A>T Single submitter
- c.2159-4308C>G Single submitter
- c.2159-4655G>A Single submitter
- c.2159-928G>C Single submitter
- c.285+110G>A Single submitter
- c.286-206dup Single submitter
- c.3169+18G>A Single submitter
- c.3169+8G>T Single submitter
- c.3446-18C>T Single submitter
- c.3576+18T>C Single submitter
- c.3782+9G>T Single submitter
- c.424-76_424-73del Single submitter
- c.560-10T>C Single submitter
- p.Ala1034= Single submitter
- p.Ala1142= Single submitter
- p.Ala1174= Single submitter
- p.Ala370= Single submitter
- p.Asp334= Single submitter
- p.Gln530= Single submitter
- p.Glu1112= Single submitter
- p.His522= Single submitter
- p.Lys1035= Single submitter
- p.Met239Leu Single submitter
- p.Pro336= Single submitter
- p.Pro731Leu Single submitter
- p.Pro778Arg Single submitter ⚠
- p.Pro842= Single submitter
- p.Pro974_Pro975insLeuGlnGlnGlnPro Single submitter
- p.Pro978_Pro980del Single submitter
- p.Pro979= Single submitter
- p.Ser563Asn Single submitter
- p.Ser714= Single submitter
- p.Tyr390= Single submitter
Benign/Likely benign 14
- p.Ala1189= Multiple submitters
- p.Ala1230= Multiple submitters
- p.Ala1248Val Multiple submitters ⚠
- p.Arg1097His Multiple submitters
- p.Arg322= Multiple submitters
- p.Asp301= Multiple submitters
- p.Gly627= Multiple submitters
- p.Phe1227= Multiple submitters
- p.Pro252Arg Multiple submitters ⚠
- p.Pro786= Multiple submitters
- p.Pro974= Multiple submitters
- p.Thr573= Multiple submitters
- p.Val228Ile Multiple submitters
- p.Val380= Multiple submitters
Likely benign 380
Showing the top 300 by review status; the full set is in the sitemap.
- c.1752-4G>A Multiple submitters
- c.2212-8G>C Multiple submitters
- c.4021-13C>T Multiple submitters
- p.Ala1245= Multiple submitters
- p.Ala264Val Multiple submitters
- p.Asn39= Multiple submitters
- p.Gln971= Multiple submitters
- p.Glu1270Asp Multiple submitters ⚠
- p.Pro1012= Multiple submitters
- p.Pro1019= Multiple submitters
- p.Pro1023Ser Multiple submitters ⚠
- p.Pro215= Multiple submitters
- p.Pro273= Multiple submitters
- p.Pro769= Multiple submitters
- p.Pro943= Multiple submitters
- p.Ser1074= Multiple submitters
- p.Ser1128= Multiple submitters
- p.Ser1201= Multiple submitters
- p.Ser358= Multiple submitters
- p.Ser486= Multiple submitters
- p.Ser5= Multiple submitters
- p.Ser815= Multiple submitters
- p.Ser952= Multiple submitters
- p.Thr103= Multiple submitters
- p.Thr195= Multiple submitters
- p.Thr824= Multiple submitters
- p.Val1110del Multiple submitters
- c.1212+10A>C Single submitter
- c.1212+7G>A Single submitter
- c.1213-19G>A Single submitter
- c.1341+10G>T Single submitter
- c.1341+11G>A Single submitter
- c.1341+14G>T Single submitter
- c.1341+16G>A Single submitter
- c.1341+17C>T Single submitter
- c.1341+18G>A Single submitter
- c.1341+8T>C Single submitter
- c.1341+9T>G Single submitter
- c.1342-14C>T Single submitter
- c.1551+16G>T Single submitter
- c.1552-12T>A Single submitter
- c.1552-15C>T Single submitter
- c.1552-16C>T Single submitter
- c.1552-18T>G Single submitter
- c.1552-5T>C Single submitter
- c.1552-9G>C Single submitter
- c.1751+12C>T Single submitter
- c.1752-10C>T Single submitter
- c.1752-15A>G Single submitter
- c.2047+10G>T Single submitter
- c.2047+13C>T Single submitter
- c.2048-16A>G Single submitter
- c.2158+14T>G Single submitter
- c.2158+155C>G Single submitter
- c.2158+15G>A Single submitter
- c.2158+18C>A Single submitter
- c.2158+2054C>T Single submitter
- c.2158+20A>G Single submitter
- c.2158+2269G>A Single submitter
- c.2158+2376C>T Single submitter
- c.2158+2425G>A Single submitter
- c.2158+2690G>C Single submitter
- c.2158+2696_2158+2704del Single submitter
- c.2158+2705_2158+2713dup Single submitter
- c.2158+2710_2158+2713dup Single submitter
- c.2158+2782G>C Single submitter
- c.2158+3019G>C Single submitter
- c.2158+3487C>A Single submitter
- c.2158+437C>T Single submitter
- c.2158+510C>G Single submitter
- c.2158+527A>G Single submitter
- c.2158+577C>T Single submitter
- c.2158+825_2158+827del Single submitter
- c.2158+8G>A Single submitter
- c.2158+9A>T Single submitter
- c.2159-1047A>T Single submitter
- c.2159-16C>T Single submitter
- c.2159-1767dup Single submitter
- c.2159-1816C>T Single submitter
- c.2159-2870T>C Single submitter
- c.2159-3665C>T Single submitter
- c.2159-3686C>G Single submitter
- c.2159-620C>T Single submitter
- c.2211+13_2211+14del Single submitter
- c.2211+17G>A Single submitter
- c.2212-12C>G Single submitter
- c.2212-12C>T Single submitter
- c.2212-14CT[2] Single submitter
- c.2212-14CT[4] Single submitter
- c.2212-18C>T Single submitter
- c.2212-28GTCT[3] Single submitter
- c.2212-28GTCT[5] Single submitter
- c.2212-7T>A Single submitter
- c.2581+7C>T Single submitter
- c.2582-17G>T Single submitter
- c.2582-19C>T Single submitter
- c.2582-4C>T Single submitter
- c.2582-7C>T Single submitter
- c.285+16A>C Single submitter
- c.285+8G>A Single submitter
- c.286-13C>T Single submitter
- c.286-18T>C Single submitter
- c.3169+14A>G Single submitter
- c.3169+17C>T Single submitter
- c.3170-14G>C Single submitter
- c.3170-17C>T Single submitter
- c.3170-5C>G Single submitter
- c.3282+19C>A Single submitter
- c.3282+19C>T Single submitter
- c.3283-12G>A Single submitter
- c.3283-16G>A Single submitter
- c.3283-16G>C Single submitter
- c.3283-9C>T Single submitter
- c.3445+15T>C Single submitter
- c.3445+8C>T Single submitter
- c.3446-10T>C Single submitter
- c.3446-17G>A Single submitter
- c.3576+18T>A Single submitter
- c.3576+20G>T Single submitter
- c.3576+3T>C Single submitter
- c.3577-13C>G Single submitter
- c.3577-15CT[2] Single submitter
- c.3577-16C>G Single submitter
- c.3577-17A>G Single submitter
- c.3577-6C>T Single submitter
- c.3782+7G>A Single submitter
- c.3782+9G>A Single submitter
- c.4020+11A>T Single submitter
- c.4021-16_4021-14del Single submitter
- c.4021-20C>T Single submitter
- c.559+19A>G Single submitter
- c.560-13T>C Single submitter
- c.560-19G>A Single submitter
- c.560-20C>T Single submitter
- c.849+20G>C Single submitter
- c.850-11G>A Single submitter
- c.850-12T>C Single submitter
- c.850-13G>A Single submitter
- c.850-14C>T Single submitter
- c.850-17G>A Single submitter
- c.850-18C>T Single submitter
- c.850-4G>C Single submitter
- c.850-9T>G Single submitter
- p.Ala1240= Single submitter
- p.Ala1268= Single submitter
- p.Ala1268Val Single submitter
- p.Ala1272= Single submitter
- p.Ala1302Val Single submitter ⚠
- p.Ala1307= Single submitter
- p.Ala1328= Single submitter
- p.Ala150= Single submitter
- p.Ala202= Single submitter
- p.Ala227= Single submitter
- p.Ala3= Single submitter
- p.Ala508= Single submitter
- p.Ala520= Single submitter
- p.Ala690= Single submitter
- p.Ala751= Single submitter
- p.Ala80= Single submitter
- p.Ala865= Single submitter
- p.Ala877= Single submitter
- p.Ala885= Single submitter
- p.Ala889= Single submitter
- p.Ala89= Single submitter
- p.Arg1060= Single submitter
- p.Arg1159= Single submitter
- p.Arg1229= Single submitter
- p.Arg1274= Single submitter
- p.Arg326= Single submitter
- p.Arg510= Single submitter
- p.Asn1088= Single submitter
- p.Asn1168= Single submitter
- p.Asn1198= Single submitter
- p.Asn1360= Single submitter
- p.Asn864= Single submitter
- p.Asp1265= Single submitter
- p.Asp1322= Single submitter
- p.Asp145= Single submitter
- p.Asp399= Single submitter
- p.Asp459= Single submitter
- p.Asp495= Single submitter
- p.Asp502= Single submitter
- p.Asp88= Single submitter
- p.Cys357= Single submitter
- p.Gln1286= Single submitter
- p.Gln1288= Single submitter
- p.Gln1289= Single submitter
- p.Gln1293= Single submitter
- p.Gln1300= Single submitter
- p.Gln1311= Single submitter
- p.Gln209= Single submitter
- p.Gln735= Single submitter
- p.Gln773= Single submitter
- p.Gln832= Single submitter
- p.Gln85= Single submitter
- p.Gln910= Single submitter
- p.Glu1166= Single submitter
- p.Glu411= Single submitter
- p.Glu600= Single submitter
- p.Glu651= Single submitter
- p.Glu809= Single submitter
- p.His1021= Single submitter
- p.His1021_Pro1029del Single submitter Cornelia de Lange syndrome 6
- p.His1021Pro Single submitter
- p.His1043= Single submitter
- p.His1247= Single submitter
- p.His304= Single submitter
- p.His341Tyr Single submitter Developmental disorder ⚠
- p.His741= Single submitter
- p.His854= Single submitter
- p.Ile100= Single submitter
- p.Ile1008= Single submitter
- p.Ile1115= Single submitter
- p.Ile1140= Single submitter
- p.Ile1196= Single submitter
- p.Ile138= Single submitter
- p.Ile275= Single submitter
- p.Ile300= Single submitter
- p.Ile622= Single submitter
- p.Ile654= Single submitter
- p.Ile820= Single submitter
- p.Ile827= Single submitter
- p.Leu1096= Single submitter
- p.Leu11= Single submitter
- p.Leu1241= Single submitter
- p.Leu1269= Single submitter
- p.Leu1353= Single submitter
- p.Leu148= Single submitter
- p.Leu156= Single submitter
- p.Leu387= Single submitter
- p.Leu446= Single submitter
- p.Leu511= Single submitter
- p.Leu71= Single submitter
- p.Leu74= Single submitter
- p.Leu828= Single submitter
- p.Leu839= Single submitter
- p.Leu866= Single submitter
- p.Leu912= Single submitter
- p.Leu923= Single submitter
- p.Leu935= Single submitter
- p.Leu945= Single submitter
- p.Leu958= Single submitter
- p.Leu970= Single submitter
- p.Lys1114= Single submitter
- p.Lys1234= Single submitter
- p.Lys362= Single submitter
- p.Lys395= Single submitter
- p.Lys543= Single submitter
- p.Lys548= Single submitter
- p.Lys550= Single submitter
- p.Lys680= Single submitter
- p.Lys794= Single submitter
- p.Lys91= Single submitter
- p.Lys937= Single submitter
- p.Phe225= Single submitter
- p.Phe426= Single submitter
- p.Phe450= Single submitter
- p.Phe800= Single submitter
- p.Phe83= Single submitter
- p.Pro1012Leu Single submitter ⚠
- p.Pro1020= Single submitter
- p.Pro1022= Single submitter
- p.Pro1030= Single submitter
- p.Pro1031= Single submitter
- p.Pro104= Single submitter
- p.Pro1063= Single submitter
- p.Pro1071= Single submitter
- p.Pro1131= Single submitter
- p.Pro1143= Single submitter
- p.Pro1150= Single submitter
- p.Pro1164= Single submitter
- p.Pro1170= Single submitter
- p.Pro1184= Single submitter
- p.Pro1210= Single submitter
- p.Pro1310= Single submitter
- p.Pro1317= Single submitter
- p.Pro230= Single submitter
- p.Pro246= Single submitter
- p.Pro251= Single submitter
- p.Pro252= Single submitter
- p.Pro255= Single submitter
- p.Pro257= Single submitter
- p.Pro260= Single submitter
- p.Pro261= Single submitter
- p.Pro265= Single submitter
- p.Pro313= Single submitter
- p.Pro331= Single submitter
- p.Pro379= Single submitter
- p.Pro458= Single submitter
- p.Pro46= Single submitter
- p.Pro471= Single submitter
- p.Pro476= Single submitter
- p.Pro531= Single submitter
- p.Pro597= Single submitter
- p.Pro609= Single submitter
- p.Pro626= Single submitter
- p.Pro661= Single submitter
- p.Pro723= Single submitter
- p.Pro731= Single submitter
- p.Pro750= Single submitter
Uncertain significance 408
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala220Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala409Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala565Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp337Asn Multiple submitters ⚠
- p.Asp497Gly Multiple submitters Inborn genetic diseases ⚠
- p.Gln32Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gln934_Gln936del Multiple submitters Cornelia de Lange syndrome
- p.Glu506del Multiple submitters
- p.Glu715Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu718Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly6Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ile300Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys685Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro216Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro224Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro254Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro307Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro483Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser578Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser611Phe Multiple submitters Inborn genetic diseases ⚠
- p.Thr200Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr295Pro Multiple submitters mental disorder ⚠
- p.Thr573Met Multiple submitters Inborn genetic diseases ⚠
- p.Thr9Lys Multiple submitters Inborn genetic diseases ⚠
- p.Val583Met Multiple submitters Inborn genetic diseases ⚠
- c.1213-4C>A Single submitter
- c.1341+3G>A Single submitter
- c.1342-3C>T Single submitter
- c.1551+6G>C Single submitter
- c.1752-12G>T Single submitter
- c.1752-13C>T Single submitter
- c.2047+3G>A Single submitter
- c.2047+55C>G Single submitter Inborn genetic diseases
- c.2158+421T>G Single submitter
- c.2211+5A>G Single submitter
- c.2211+5A>T Single submitter
- c.2211+6T>C Single submitter
- c.3282+4del Single submitter
- c.3576+4G>A Single submitter
- c.3782+6C>T Single submitter
- c.3783-3C>T Single submitter
- c.4020+1G>C Single submitter Cornelia de Lange syndrome 6
- c.-5C>G Single submitter
- p.1282RQEQQQQQ[1] Single submitter
- p.981QP[1] Single submitter
- p.Ala1034Gly Single submitter ⚠
- p.Ala1169Thr Single submitter ⚠
- p.Ala1189Val Single submitter ⚠
- p.Ala1272Thr Single submitter ⚠
- p.Ala1302Ser Single submitter ⚠
- p.Ala1307Thr Single submitter ⚠
- p.Ala1308_Thr1309insAla Single submitter
- p.Ala1308Thr Single submitter ⚠
- p.Ala1308Val Single submitter ⚠
- p.Ala1340= Single submitter
- p.Ala262Thr Single submitter Inborn genetic diseases ⚠
- p.Ala276Val Single submitter ⚠
- p.Ala292Gly Single submitter ⚠
- p.Ala33Val Single submitter ⚠
- p.Ala371Thr Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala40Ser Single submitter ⚠
- p.Ala40Thr Single submitter ⚠
- p.Ala40Val Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala441Val Single submitter ⚠
- p.Ala443Gly Single submitter ⚠
- p.Ala467Val Single submitter ⚠
- p.Ala527Ser Single submitter ⚠
- p.Ala589Val Single submitter Inborn genetic diseases ⚠
- p.Ala683Thr Single submitter ⚠
- p.Ala792Glu Single submitter ⚠
- p.Ala792Val Single submitter ⚠
- p.Ala855Thr Single submitter ⚠
- p.Ala865Thr Single submitter ⚠
- p.Arg1047Gln Single submitter ⚠
- p.Arg1047Trp Single submitter ⚠
- p.Arg1060His Single submitter ⚠
- p.Arg1097Cys Single submitter ⚠
- p.Arg1097Pro Single submitter ⚠
- p.Arg1130Gln Single submitter ⚠
- p.Arg113His Single submitter ⚠
- p.Arg1232Trp Single submitter ⚠
- p.Arg1256Trp Single submitter ⚠
- p.Arg1273Trp Single submitter ⚠
- p.Arg1281Trp Single submitter ⚠
- p.Arg1282Cys Single submitter ⚠
- p.Arg1290_Gln1296del Single submitter
- p.Arg1290Cys Single submitter ⚠
- p.Arg1338Gln Single submitter ⚠
- p.Arg322Trp Single submitter ⚠
- p.Arg326Trp Single submitter Inborn genetic diseases ⚠
- p.Arg410Cys Single submitter ⚠
- p.Arg410His Single submitter ⚠
- p.Arg413Cys Single submitter ⚠
- p.Arg413His Single submitter ⚠
- p.Arg444Leu Single submitter ⚠
- p.Arg453Cys Single submitter ⚠
- p.Arg616Gln Single submitter Inborn genetic diseases ⚠
- p.Arg632His Single submitter ⚠
- p.Arg640fs Single submitter
- p.Arg669His Single submitter ⚠
- p.Arg676Gln Single submitter ⚠
- p.Arg676Trp Single submitter ⚠
- p.Arg68Thr Single submitter ⚠
- p.Arg872Gln Single submitter ⚠
- p.Arg876Gln Single submitter ⚠
- p.Asn117Ser Single submitter Inborn genetic diseases ⚠
- p.Asn54Lys Single submitter ⚠
- p.Asn577Ser Single submitter Inborn genetic diseases ⚠
- p.Asn580Lys Single submitter ⚠
- p.Asn61Ser Single submitter ⚠
- p.Asp1052Gly Single submitter ⚠
- p.Asp1222Asn Single submitter ⚠
- p.Asp145Gly Single submitter neurodevelopmental disorder ⚠
- p.Asp231Ala Single submitter Inborn genetic diseases ⚠
- p.Asp231Asn Single submitter Inborn genetic diseases ⚠
- p.Asp231Glu Single submitter ⚠
- p.Asp293Glu Single submitter ⚠
- p.Asp487Asn Single submitter ⚠
- p.Asp502Asn Single submitter ⚠
- p.Asp621Asn Single submitter ⚠
- p.Asp655Asn Single submitter Inborn genetic diseases ⚠
- p.Asp88Val Single submitter ⚠
- p.Cys391Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln1003Arg Single submitter ⚠
- p.Gln1038Arg Single submitter ⚠
- p.Gln1077Arg Single submitter ⚠
- p.Gln1167His Single submitter ⚠
- p.Gln1257_Arg1259del Single submitter
- p.Gln127Pro Single submitter Inborn genetic diseases ⚠
- p.Gln1285_Gln1286insGluGln Single submitter
- p.Gln1288_Gln1289insArgArgGlnGluGlnGlnGlnGln Single submitter
- p.Gln1289_Arg1290insGln Single submitter
- p.Gln1289del Single submitter
- p.Gln1295Leu Single submitter ⚠
- p.Gln1295Lys Single submitter ⚠
- p.Gln1296_Gln1300del Single submitter
- p.Gln1297_Gln1298insArgGlnGluGlnGlnGlnGlnGln Single submitter
- p.Gln1300_Ala1301insGlnGln Single submitter Cornelia de Lange syndrome 6
- p.Gln1311Glu Single submitter ⚠
- p.Gln1316Leu Single submitter ⚠
- p.Gln159Glu Single submitter Inborn genetic diseases ⚠
- p.Gln219Glu Single submitter ⚠
- p.Gln32Glu Single submitter Inborn genetic diseases ⚠
- p.Gln339Glu Single submitter ⚠
- p.Gln509Leu Single submitter
- p.Gln517Pro Single submitter Inborn genetic diseases ⚠
- p.Gln524Glu Single submitter ⚠
- p.Gln735Arg Single submitter ⚠
- p.Gln773_Gln788del Single submitter
- p.Gln788Arg Single submitter ⚠
- p.Gln84Arg Single submitter ⚠
- p.Gln936= Single submitter
- p.Gln968_Gln969del Single submitter
- p.Gln973_Gln989del Single submitter
- p.Gln973Arg Single submitter ⚠
- p.Glu1123Lys Single submitter ⚠
- p.Glu1132Asp Single submitter ⚠
- p.Glu1225Lys Single submitter ⚠
- p.Glu1235Val Single submitter ⚠
- p.Glu1246Lys Single submitter ⚠
- p.Glu1258Gln Single submitter ⚠
- p.Glu1266Lys Single submitter ⚠
- p.Glu1277Lys Single submitter ⚠
- p.Glu1278Lys Single submitter ⚠
- p.Glu323fs Single submitter
- p.Glu602Gly Single submitter Inborn genetic diseases ⚠
- p.Glu628Lys Single submitter ⚠
- p.Glu702Gln Single submitter ⚠
- p.Glu704Asp Single submitter Inborn genetic diseases ⚠
- p.Glu718Lys Single submitter ⚠
- p.Glu917Gly Single submitter ⚠
- p.Gly1016Val Single submitter ⚠
- p.Gly1057Ser Single submitter ⚠
- p.Gly1158Glu Single submitter ⚠
- p.Gly1173Arg Single submitter ⚠
- p.Gly180Arg Single submitter ⚠
- p.Gly182Trp Single submitter ⚠
- p.Gly821Ser Single submitter ⚠
- p.His1007Gln Single submitter ⚠
- p.His1048Asn Single submitter ⚠
- p.His1058Arg Single submitter ⚠
- p.His1145Tyr Single submitter ⚠
- p.His388Gln Single submitter Cornelia de Lange syndrome ⚠
- p.His551Gln Single submitter ⚠
- p.His743del Single submitter
- p.His822Asn Single submitter ⚠
- p.His854Leu Single submitter ⚠
- p.Ile1196Thr Single submitter ⚠
- p.Ile1345Val Single submitter ⚠
- p.Ile1356Val Single submitter ⚠
- p.Ile138Phe Single submitter Inborn genetic diseases ⚠
- p.Ile275Met Single submitter Inborn genetic diseases ⚠
- p.Ile300Thr Single submitter ⚠
- p.Ile394Val Single submitter Inborn genetic diseases ⚠
- p.Ile403Val Single submitter ⚠
- p.Ile820Asn Single submitter ⚠
- p.Leu1059Phe Single submitter ⚠
- p.Leu1205Val Single submitter ⚠
- p.Leu232Val Single submitter ⚠
- p.Leu309Arg Single submitter Inborn genetic diseases ⚠
- p.Leu309Met Single submitter ⚠
- p.Leu318Val Single submitter Inborn genetic diseases ⚠
- p.Leu407Lys Single submitter
- p.Leu525Pro Single submitter ⚠
- p.Leu74Val Single submitter ⚠
- p.Leu828Met Single submitter ⚠
- p.Leu835Val Single submitter ⚠
- p.Leu945Val Single submitter ⚠
- p.Leu970_Gln972del Single submitter
- p.Leu970_Gln973del Single submitter
- p.Lys1135Arg Single submitter ⚠
- p.Lys1192Arg Single submitter ⚠
- p.Lys289Asn Single submitter ⚠
- p.Lys355Arg Single submitter ⚠
- p.Lys362Gln Single submitter ⚠
- p.Lys431Thr Single submitter Cornelia de Lange syndrome 1 ⚠
- p.Lys535Asn Single submitter ⚠
- p.Lys537Asn Single submitter ⚠
- p.Lys538Arg Single submitter Inborn genetic diseases ⚠
- p.Lys543Arg Single submitter Inborn genetic diseases ⚠
- p.Lys546Asn Single submitter ⚠
- p.Lys548Glu Single submitter ⚠
- p.Lys592Arg Single submitter ⚠
- p.Lys592Glu Single submitter ⚠
- p.Lys594Met Single submitter ⚠
- p.Lys606Thr Single submitter ⚠
- p.Lys737_His738insLys Single submitter
- p.Lys937Arg Single submitter ⚠
- p.Met105Val Single submitter ⚠
- p.Met1260Ile Single submitter ⚠
- p.Met172Leu Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter
- p.Met239Val Single submitter ⚠
- p.Met425Ile Single submitter ⚠
- p.Met457Ile Single submitter Inborn genetic diseases ⚠
- p.Met695Thr Single submitter ⚠
- p.Met721Val Single submitter ⚠
- p.Met793Thr Single submitter ⚠
- p.Met905Val Single submitter ⚠
- p.Met926Ile Single submitter ⚠
- p.Pro1011Leu Single submitter ⚠
- p.Pro1013Leu Single submitter ⚠
- p.Pro1019Leu Single submitter ⚠
- p.Pro1019Ser Single submitter ⚠
- p.Pro1024Ser Single submitter ⚠
- p.Pro1030Ala Single submitter ⚠
- p.Pro1030Gln Single submitter ⚠
- p.Pro1030Leu Single submitter ⚠
- p.Pro1033Ser Single submitter ⚠
- p.Pro1065Arg Single submitter ⚠
- p.Pro1084Ser Single submitter ⚠
- p.Pro1131Leu Single submitter ⚠
- p.Pro1154Ser Single submitter ⚠
- p.Pro1170Arg Single submitter ⚠
- p.Pro1170Leu Single submitter ⚠
- p.Pro206Leu Single submitter ⚠
- p.Pro213Arg Single submitter ⚠
- p.Pro224Leu Single submitter ⚠
- p.Pro230Arg Single submitter ⚠
- p.Pro230Ser Single submitter ⚠
- p.Pro252Ser Single submitter Inborn genetic diseases ⚠
- p.Pro255Ser Single submitter Inborn genetic diseases ⚠
- p.Pro263Ala Single submitter Inborn genetic diseases ⚠
- p.Pro267Arg Single submitter ⚠
- p.Pro267Thr Single submitter ⚠
- p.Pro273Ala Single submitter Inborn genetic diseases ⚠
- p.Pro279Ser Single submitter ⚠
- p.Pro297_Thr299del Single submitter
- p.Pro302Ala Single submitter Inborn genetic diseases ⚠
- p.Pro311Ala Single submitter Inborn genetic diseases ⚠
- p.Pro37Ser Single submitter Inborn genetic diseases ⚠
- p.Pro46Arg Single submitter Inborn genetic diseases ⚠
- p.Pro46Ser Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro474_Val480del Single submitter
- p.Pro475Leu Single submitter ⚠
- p.Pro53Ser Single submitter ⚠
- p.Pro569Ser Single submitter ⚠
- p.Pro596Arg Single submitter ⚠
- p.Pro597Leu Single submitter ⚠
- p.Pro649Arg Single submitter Cornelia de Lange syndrome ⚠
- p.Pro661Leu Single submitter ⚠
- p.Pro681Ser Single submitter BRD4-related disorder ⚠
- p.Pro750Leu Single submitter ⚠
- p.Pro758Ser Single submitter ⚠
- p.Pro759Leu Single submitter ⚠
- p.Pro760Arg Single submitter ⚠
- p.Pro761Ser Single submitter ⚠
- p.Pro764Ala Single submitter ⚠
- p.Pro766Leu Single submitter ⚠
- p.Pro768_Pro769insGlnGlnProProProProPro Single submitter
- p.Pro770Ala Single submitter ⚠
- p.Pro770Ser Single submitter ⚠
- p.Pro776Leu Single submitter ⚠
- p.Pro782Leu Single submitter ⚠
- p.Pro783Ser Single submitter ⚠
- p.Pro7Arg Single submitter ⚠
- p.Pro831Ala Single submitter ⚠