SMC1A — 1118 ClinVar variants
All ClinVar germline SMC1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 316 flagged for review →
118 Pathogenic · 20 Pathogenic/Likely pathogenic · 85 Likely pathogenic · 53 Conflicting · 51 Benign · 26 Benign/Likely benign · 378 Likely benign · 387 Uncertain significance
Full SMC1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 316
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 23
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SMC1A p.Ala1072Gly
Conflicting
Single submitter
Inborn genetic diseases
-
SMC1A p.Ala153Val
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg1121His
Conflicting
Single submitter
SMC1A-related disorder
-
SMC1A p.Arg196Cys
Conflicting
Single submitter
SMC1A-related disorder
-
SMC1A p.Arg255His
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg353Trp
Conflicting
Single submitter
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Arg635His
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg665His
Conflicting
Single submitter
Inborn genetic diseases
-
SMC1A p.Arg680His
Conflicting
Single submitter
Inborn genetic diseases
-
SMC1A p.Arg699Cys
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg816His
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg92Cys
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asn1166Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SMC1A p.Asn1231Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SMC1A p.Asp486Gly
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Cys1180Ser
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Glu1060Lys
Conflicting
Single submitter
Inborn genetic diseases
-
SMC1A p.Gly984Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SMC1A p.His836Gln
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys338Asn
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met42Val
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met82Val
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Tyr600Phe
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 178
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 178
-
SMC1A p.Ala165Val
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Ala616Val
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg188Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC1A p.Arg218Gln
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg377Gln
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg468Gln
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg626Cys
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg627Cys
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg782Gln
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
- SMC1A p.Arg799Gln Uncertain significance Multiple submitters
-
SMC1A p.Arg923Cys
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Asn1071Ser
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Asn239Ser
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Asn397Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC1A p.Asn902Ser
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Asp1156Glu
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Asp252Glu
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
- SMC1A p.Asp490Asn Uncertain significance Multiple submitters
-
SMC1A p.Gln1177Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Gln610Arg
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Gln994Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Gly785Cys
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Gly818Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC1A p.Leu930Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC1A p.Pro1224Gln
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Ser102Ala
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Ser1213Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC1A p.Ser956Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC1A p.Ser970Thr
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Tyr1204Phe
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Val176Met
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
- SMC1A p.Ala1052Val Uncertain significance Single submitter
-
SMC1A p.Ala1094Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ala199Thr
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Ala219Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Ala314Val Uncertain significance Single submitter
-
SMC1A p.Ala390Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Ala419Thr Uncertain significance Single submitter
-
SMC1A p.Ala466Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Ala663Thr Uncertain significance Single submitter
-
SMC1A p.Ala728Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ala879Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ala932Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ala932Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ala993Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Arg1051Gln Uncertain significance Single submitter
-
SMC1A p.Arg131Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg131His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg171Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg208Trp
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg275Trp
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg329Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Arg329Leu Uncertain significance Single submitter
-
SMC1A p.Arg329Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Arg488Cys Uncertain significance Single submitter
- SMC1A p.Arg509His Uncertain significance Single submitter
-
SMC1A p.Arg518His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg554Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg599Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Arg62Gln Uncertain significance Single submitter
-
SMC1A p.Arg787His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg816Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg926His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg92Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC1A p.Asn1102Lys Uncertain significance Single submitter
-
SMC1A p.Asn1102Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Asn621Ser Uncertain significance Single submitter
- SMC1A p.Asn743Ser Uncertain significance Single submitter
-
SMC1A p.Asn812Asp
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asp1209Asn
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asp471Gly
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asp543Gly
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Asp658Ala Uncertain significance Single submitter
- SMC1A p.Asp667Val Uncertain significance Single submitter
-
SMC1A p.Asp764Gly
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asp833Gly
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asp961Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Cys523Trp Uncertain significance Single submitter
- SMC1A p.Cys556Arg Uncertain significance Single submitter
-
SMC1A p.Gln479Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Gln497Arg Uncertain significance Single submitter
- SMC1A p.Gln936Glu Uncertain significance Single submitter
-
SMC1A p.Gln958Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Glu104Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Glu1198Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Glu204Gly
Uncertain significance
Single submitter
congenital heart disease
-
SMC1A p.Glu566Lys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Glu793Asp Uncertain significance Single submitter
- SMC1A p.Glu998Asp Uncertain significance Single submitter
- SMC1A p.Gly1119Glu Uncertain significance Single submitter
-
SMC1A p.Gly1202Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Gly22Arg Uncertain significance Single submitter
-
SMC1A p.Gly2Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Gly331Val Uncertain significance Single submitter
-
SMC1A p.Gly457Ala
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Gly457Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Gly565Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Gly655Ala Uncertain significance Single submitter
- SMC1A p.Gly785Ala Uncertain significance Single submitter
- SMC1A p.Gly900Ser Uncertain significance Single submitter
- SMC1A p.His115Arg Uncertain significance Single submitter
- SMC1A p.His115Asn Uncertain significance Single submitter
-
SMC1A p.His307Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.His636Tyr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.His836Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC1A p.His859Tyr Uncertain significance Single submitter
- SMC1A p.Ile1144Thr Uncertain significance Single submitter
- SMC1A p.Ile1158Thr Uncertain significance Single submitter
- SMC1A p.Ile128Val Uncertain significance Single submitter
-
SMC1A p.Ile143Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ile20Thr
Uncertain significance
Single submitter
SMC1A-related disorder
- SMC1A p.Ile30Val Uncertain significance Single submitter
- SMC1A p.Ile31Phe Uncertain significance Single submitter
-
SMC1A p.Ile31Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Ile489Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ile507Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Ile915Val Uncertain significance Single submitter
-
SMC1A p.Leu124Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Leu407Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Leu719Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Leu828Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Leu852Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys1009Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Lys1037Arg Uncertain significance Single submitter
-
SMC1A p.Lys13Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys197Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys247Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys258Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys267Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys316Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys373Arg
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Lys38Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys561Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Lys637Glu Uncertain significance Single submitter
-
SMC1A p.Lys662Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Lys805Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys854Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys903Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met1028Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Met1125Thr Uncertain significance Single submitter
-
SMC1A p.Met273Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met340Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Met42Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Met465Leu Uncertain significance Single submitter
-
SMC1A p.Met689Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met837Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met891Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Met905Ile Uncertain significance Single submitter
-
SMC1A p.Phe12Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Phe47Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
Predictors split 112
The independent predictors disagree with each other — read with care.
-
SMC1A p.Arg1049Gln
Pathogenic/Likely pathogenic
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg160His
Uncertain significance
Multiple submitters
SMC1A-related disorder
-
SMC1A p.Arg255Pro
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg275Gln
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg398Gln
Pathogenic
Multiple submitters
SMC1A-related disorder
-
SMC1A p.Arg496His
Pathogenic
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg626His
Likely pathogenic
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg693Gln
Pathogenic/Likely pathogenic
Multiple submitters
SMC1A-related disorder
-
SMC1A p.Arg711Gln
Pathogenic/Likely pathogenic
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Arg807His
Pathogenic/Likely pathogenic
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Asn615Ser
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Asp214Gly
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Asp405Asn
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Gln1018Arg
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Gln909His
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Gln931Arg
Uncertain significance
Multiple submitters
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Ile1062Met
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Ile784Thr
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
SMC1A p.Lys129Arg
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
- SMC1A p.Ser657Arg Uncertain significance Multiple submitters
-
SMC1A p.Thr913Ile
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 2
-
SMC1A p.Ala193Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ala29Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC1A p.Ala974Pro Uncertain significance Single submitter
-
SMC1A p.Arg1019His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg1069Cys
Conflicting
Single submitter
Inborn genetic diseases
-
SMC1A p.Arg1069Gly
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Arg1090Cys Uncertain significance Single submitter
- SMC1A p.Arg1090Leu Uncertain significance Single submitter
-
SMC1A p.Arg1123Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Arg1123Trp
Pathogenic
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg151Lys
Likely benign
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Arg188His Conflicting Single submitter
-
SMC1A p.Arg255Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Arg295Gln Uncertain significance Single submitter
- SMC1A p.Arg406Cys Uncertain significance Single submitter
-
SMC1A p.Arg434Gln
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Arg491His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Arg627Ser Uncertain significance Single submitter
- SMC1A p.Arg664Gln Uncertain significance Single submitter
-
SMC1A p.Arg680Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Arg693Gly
Pathogenic
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg699His
Conflicting
Single submitter
intellectual disability
-
SMC1A p.Arg782Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC1A p.Asn1114Lys Likely pathogenic Single submitter
-
SMC1A p.Asn1164Asp
Conflicting
Single submitter
Inborn genetic diseases
- SMC1A p.Asn1164Ser Uncertain significance Single submitter
-
SMC1A p.Asn246Lys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asn801Lys
Uncertain significance
Single submitter
SMC1A-related disorder
-
SMC1A p.Asp1209Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Asp555Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asp774Asn
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Asp989Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Gln1177Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Gln492Arg Likely pathogenic Single submitter
- SMC1A p.Glu1032Lys Uncertain significance Single submitter
-
SMC1A p.Glu1040Lys
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Glu1075Gly Uncertain significance Single submitter
- SMC1A p.Glu290Gly Uncertain significance Single submitter
-
SMC1A p.Glu313Lys
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Glu368Lys
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Glu416Lys
Conflicting
Single submitter
SMC1A-related disorder
- SMC1A p.Glu430Val Uncertain significance Single submitter
-
SMC1A p.Glu773Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC1A p.Glu824Gly Uncertain significance Single submitter
-
SMC1A p.Glu904Lys
Uncertain significance
Single submitter
X-linked complex neurodevelopmental disorder
- SMC1A p.Glu90Val Uncertain significance Single submitter
-
SMC1A p.Gly100Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Gly138Asp
Uncertain significance
Single submitter
History of neurodevelopmental disorder
-
SMC1A p.Gly271Asp
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Gly362Ser Uncertain significance Single submitter
-
SMC1A p.Gly590Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC1A p.Gly899Arg Uncertain significance Single submitter
-
SMC1A p.Ile1084Met
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ile1187Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Ile158Val Uncertain significance Single submitter
-
SMC1A p.Ile284Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Ile309Thr Uncertain significance Single submitter
- SMC1A p.Ile751Thr Uncertain significance Single submitter
-
SMC1A p.Ile819Ser
Conflicting
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Leu228Ile
Uncertain significance
Single submitter
SMC1A-related disorder
-
SMC1A p.Leu425Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Leu455Pro Uncertain significance Single submitter
-
SMC1A p.Leu708Val
Uncertain significance
Single submitter
developmental and epileptic encephalopathy, 85, with or without midline brain defects
- SMC1A p.Leu817Phe Uncertain significance Single submitter
-
SMC1A p.Lys1214Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Lys197Asn
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Lys267Asn Uncertain significance Single submitter
- SMC1A p.Lys268Glu Likely benign Single submitter
-
SMC1A p.Lys384Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys401Asn
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys536Arg
Pathogenic
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Lys561Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Lys713Gln Uncertain significance Single submitter
-
SMC1A p.Lys918Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met1025Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC1A p.Met1125Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met1125Val
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Met867Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Phe1097Tyr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Pro1124Leu Uncertain significance Single submitter
-
SMC1A p.Ser1146Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Ser383Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Thr28Ala
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
- SMC1A p.Thr535Ser Uncertain significance Single submitter
- SMC1A p.Thr552Ile Uncertain significance Single submitter
-
SMC1A p.Thr906Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Val135Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Val772Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 2
-
SMC1A p.Arg412Gln
Uncertain significance
No assertion criteria
Cornelia de Lange syndrome 2
-
SMC1A p.Arg895Gly
Pathogenic
No assertion criteria
developmental and epileptic encephalopathy, 85, with or without midline brain defects
-
SMC1A p.Leu41Phe
Pathogenic
No assertion criteria
Wiedemann-Steiner syndrome
All SMC1A variants
Pathogenic 118
- c.1114-2A>G Multiple submitters Cornelia de Lange syndrome 2
- p.Arg1049Ter Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Arg171Ter Multiple submitters SMC1A-related disorder
- p.Arg196His Multiple submitters SMC1A-related disorder
- p.Arg398Gln Multiple submitters SMC1A-related disorder ⚠
- p.Arg496His Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg725Ter Multiple submitters Epileptic encephalopathy
- p.Arg758Ter Multiple submitters Cornelia de Lange syndrome 2
- p.Arg790Gln Multiple submitters Cornelia de Lange syndrome 2
- p.Gln183fs Multiple submitters Cornelia de Lange syndrome 2
- p.Gln721Ter Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Lys268del Multiple submitters Cornelia de Lange syndrome 2
- p.Ser951fs Multiple submitters SMC1A-related disorder
- p.Ser964fs Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- c.109+575dup Single submitter Cornelia de Lange syndrome 2
- c.2708+1G>A Single submitter
- c.2973+1G>A Single submitter Cornelia de Lange syndrome 2
- c.298+2T>C Single submitter Cornelia de Lange syndrome 2
- c.3508-2A>G Single submitter Cornelia de Lange syndrome 2
- c.615+2T>C Single submitter Cornelia de Lange syndrome 2
- c.615+5G>A Single submitter
- c.616-2A>G Single submitter Cornelia de Lange syndrome 2
- p.Ala219fs Single submitter Cornelia de Lange syndrome 2
- p.Arg1051Ter Single submitter Cornelia de Lange syndrome 2
- p.Arg1123Trp Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg131fs Single submitter Cornelia de Lange syndrome 2
- p.Arg18Ter Single submitter Cornelia de Lange syndrome 2
- p.Arg196Gly Single submitter Cornelia de Lange syndrome 2
- p.Arg208Gly Single submitter Cornelia de Lange syndrome 1
- p.Arg218Pro Single submitter
- p.Arg496fs Single submitter Cornelia de Lange syndrome 2
- p.Arg664fs Single submitter Cornelia de Lange syndrome 2
- p.Arg680fs Single submitter SMC1A-related cohesinopathy
- p.Arg693Gly Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg711fs Single submitter Cornelia de Lange syndrome 2
- p.Arg799fs Single submitter Cornelia de Lange syndrome 2
- p.Arg96Cys Single submitter Cornelia de Lange syndrome 2
- p.Arg96fs Single submitter Cornelia de Lange syndrome 2
- p.Arg975Ter Single submitter Cornelia de Lange syndrome 2
- p.Asn1166Thr Single submitter Cornelia de Lange syndrome 2
- p.Asp574fs Single submitter Cornelia de Lange syndrome 2
- p.Asp949delinsGlyTer Single submitter Cornelia de Lange syndrome 2
- p.Cys781Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln1008Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln1095Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln183Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln210Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln222Ter Single submitter Cornelia de Lange syndrome
- p.Gln391Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln483fs Single submitter Cornelia de Lange syndrome 2
- p.Gln716Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln800Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln813Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln958fs Single submitter
- p.Gln967Ter Single submitter Cornelia de Lange syndrome 2
- p.Glu303Asp Single submitter Cornelia de Lange syndrome 2
- p.Glu303Ter Single submitter Cornelia de Lange syndrome 2
- p.Glu502Lys Single submitter
- p.Glu892Ter Single submitter Cornelia de Lange syndrome 2
- p.Gly101fs Single submitter Cornelia de Lange syndrome 2
- p.Gly125fs Single submitter Cornelia de Lange syndrome 2
- p.Gly565fs Single submitter
- p.Gly643Ter Single submitter Cornelia de Lange syndrome 2
- p.Gly654Val Single submitter Cornelia de Lange syndrome 2
- p.Ile1084fs Single submitter Cornelia de Lange syndrome 2
- p.Ile1185fs Single submitter Cornelia de Lange syndrome 2
- p.Ile507fs Single submitter Seizure
- p.Ile595fs Single submitter Cornelia de Lange syndrome 2
- p.Ile605fs Single submitter
- p.Ile849fs Single submitter Cornelia de Lange syndrome 2
- p.Leu1141Pro Single submitter Cornelia de Lange syndrome 2
- p.Leu124Ter Single submitter Cornelia de Lange syndrome 2
- p.Leu319fs Single submitter Cornelia de Lange syndrome 2
- p.Leu708fs Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Leu828fs Single submitter
- p.Lys1063fs Single submitter atypical Rett syndrome
- p.Lys203Glu Single submitter
- p.Lys245fs Single submitter Cornelia de Lange syndrome 2
- p.Lys254fs Single submitter Cornelia de Lange syndrome 2
- p.Lys433fs Single submitter Cornelia de Lange syndrome 2
- p.Lys536Arg Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Lys637fs Single submitter
- p.Lys690fs Single submitter
- p.Lys939Ter Single submitter Cornelia de Lange syndrome 2
- p.Phe133Val Single submitter Cornelia de Lange syndrome 2
- p.Phe184fs Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Phe3_Leu4insTer Single submitter Cornelia de Lange syndrome 2
- p.Pro525Leu Single submitter Cornelia de Lange syndrome 2
- p.Ser1015fs Single submitter Cornelia de Lange syndrome 2
- p.Ser1033fs Single submitter Cornelia de Lange syndrome 2
- p.Ser161fs Single submitter Cornelia de Lange syndrome 2
- p.Ser653Phe Single submitter Cornelia de Lange syndrome 2
- p.Ser924fs Single submitter
- p.Thr1041fs Single submitter Cornelia de Lange syndrome 2
- p.Thr638Ile Single submitter SMC1A-related disorder
- p.Trp838Ter Single submitter Cornelia de Lange syndrome 2
- p.Tyr1085Ter Single submitter Cornelia de Lange syndrome 2
- p.Val1016fs Single submitter
- p.Val537fs Single submitter Inborn genetic diseases
- c.1732-2A>G No assertion criteria
- c.1911+1G>T No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects
- c.2562+1G>A No assertion criteria
- c.2974-2A>G No assertion criteria Wiedemann-Steiner syndrome
- p.Arg895Gly No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Asn788fs No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Asn826fs No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Asp831_Gln832delinsGlu No assertion criteria Cornelia de Lange syndrome 2
- p.Cys781Arg No assertion criteria Cornelia de Lange syndrome 2
- p.Gln1039Ter No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Glu464fs No assertion criteria Cornelia de Lange syndrome 2
- p.Glu493Ala No assertion criteria Cornelia de Lange syndrome 2
- p.Glu679Ter No assertion criteria Cornelia de Lange syndrome 2
- p.Glu733Ter No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Leu41Phe No assertion criteria Wiedemann-Steiner syndrome ⚠
- p.Lys798fs No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Ser1042fs No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Ser39Ter No assertion criteria Cornelia de Lange syndrome 2
- p.Val58_Arg62del No assertion criteria Cornelia de Lange syndrome 2
Pathogenic/Likely pathogenic 20
- p.Arg1035Ter Multiple submitters Inborn genetic diseases
- p.Arg1049Gln Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg1066Cys Multiple submitters Inborn genetic diseases
- p.Arg1066His Multiple submitters SMC1A-related disorder
- p.Arg398Ter Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Arg496Cys Multiple submitters Cornelia de Lange syndrome 2
- p.Arg499Ter Multiple submitters SMC1A-related cohesinopathy
- p.Arg693Gln Multiple submitters SMC1A-related disorder ⚠
- p.Arg711Gln Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg711Trp Multiple submitters Cornelia de Lange syndrome 2
- p.Arg790Trp Multiple submitters Inborn genetic diseases
- p.Arg807His Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Gln871Ter Multiple submitters Cornelia de Lange syndrome 2
- p.Ile784Thr Multiple submitters Inborn genetic diseases ⚠
- p.Lys692fs Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Phe777Leu Multiple submitters Inborn genetic diseases
- p.Ser445= Multiple submitters Cornelia de Lange syndrome 2
- p.Thr53fs Multiple submitters Cornelia de Lange syndrome 2
- p.Tyr1085Cys Multiple submitters Cornelia de Lange syndrome 2
- p.Tyr983Cys Multiple submitters Cornelia de Lange syndrome 2
Likely pathogenic 85
- c.1546-2A>C Multiple submitters Cornelia de Lange syndrome 2
- p.Arg586Trp Multiple submitters Cornelia de Lange syndrome 2
- p.Arg626His Multiple submitters Cornelia de Lange syndrome 2 ⚠
- c.1731+1G>A Single submitter
- c.2314-2A>G Single submitter Cornelia de Lange syndrome 2
- c.2314-2A>T Single submitter Cornelia de Lange syndrome 2
- c.2314-7_2314-3del Single submitter Cornelia de Lange syndrome 2
- c.3131_3132del Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- c.3437+1G>A Single submitter Cornelia de Lange syndrome 2
- c.3438-1G>C Single submitter
- c.411+1G>C Single submitter Cornelia de Lange syndrome 2
- c.855-1G>A Single submitter Cornelia de Lange syndrome 2
- p.Ala612Thr Single submitter
- p.Ala670fs Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Arg1019fs Single submitter Cornelia de Lange syndrome 2
- p.Arg1066Ser Single submitter Cornelia de Lange syndrome 2
- p.Arg18fs Single submitter
- p.Arg426fs Single submitter Cornelia de Lange syndrome 2
- p.Arg469Cys Single submitter Cornelia de Lange syndrome 2
- p.Arg57Gln Single submitter SMC1A-related disorder
- p.Arg586Gln Single submitter
- p.Arg626fs Single submitter
- p.Arg635Cys Single submitter
- p.Arg895Cys Single submitter Cornelia de Lange syndrome 2
- p.Arg926Cys Single submitter
- p.Arg96Pro Single submitter
- p.Asn1024Tyr Single submitter Cornelia de Lange syndrome 2
- p.Asn1114Lys Single submitter ⚠
- p.Asp43Asn Single submitter Cornelia de Lange syndrome 2
- p.Asp43Val Single submitter Cornelia de Lange syndrome 2
- p.Asp63_Gly71delinsValLysThrCysGlyThrTer Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Asp774Tyr Single submitter Cornelia de Lange syndrome 2
- p.Cys1115Phe Single submitter Cornelia de Lange syndrome 2
- p.Cys1115Tyr Single submitter Cornelia de Lange syndrome 2
- p.Gln1014Ter Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Gln279del Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Gln359fs Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Gln423Lys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gln492Arg Single submitter ⚠
- p.Gln704Ter Single submitter Cornelia de Lange syndrome 2
- p.Gln921fs Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Glu1040Lys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Glu104Gly Single submitter
- p.Glu141Lys Single submitter Cornelia de Lange syndrome 2
- p.Glu195Ter Single submitter Cornelia de Lange syndrome 2
- p.Glu368Lys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Glu427Lys Single submitter ⚠
- p.Glu577= Single submitter Cornelia de Lange syndrome 2
- p.Glu684del Single submitter Cornelia de Lange syndrome 2
- p.Glu767fs Single submitter Cornelia de Lange syndrome 2
- p.Gly32Glu Single submitter Cornelia de Lange syndrome 2
- p.Gly37Val Single submitter Cornelia de Lange syndrome 2
- p.Gly565_Glu566delinsGluLys Single submitter Cornelia de Lange syndrome 2
- p.Gly650Arg Single submitter SMC1A-related disorder
- p.Gly655fs Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Gly655Glu Single submitter Cornelia de Lange syndrome 2
- p.Ile979fs Single submitter
- p.Leu1017fs Single submitter
- p.Leu585Pro Single submitter Cornelia de Lange syndrome 2
- p.Lys1064del Single submitter Cornelia de Lange syndrome 2
- p.Lys1190Gln Single submitter Cornelia de Lange syndrome 2
- p.Lys1190Glu Single submitter
- p.Lys660fs Single submitter congenital nervous system disorder
- p.Lys678del Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Lys736fs Single submitter Cornelia de Lange syndrome 2
- p.Met1125Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Phe1193Cys Single submitter Inborn genetic diseases
- p.Phe1218_Thr1221del Single submitter Cornelia de Lange syndrome 2
- p.Pro572Leu Single submitter Cornelia de Lange syndrome 2
- p.Pro572Ser Single submitter Cornelia de Lange syndrome 2
- p.Ser14Leu Single submitter
- p.Ser358fs Single submitter SMC1A-related disorder
- p.Ser36Tyr Single submitter SMC1A-related disorder
- p.Ser448fs Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Ser649Ter Single submitter
- p.Ser957Phe Single submitter ⚠
- p.Thr93_Arg96del Single submitter Cornelia de Lange syndrome 2
- p.Tyr375Ter Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Tyr611Ter Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Val1154Asp Single submitter Cornelia de Lange syndrome 2
- p.Val1186Ala Single submitter Cornelia de Lange syndrome 2
- p.Val639Met Single submitter Cornelia de Lange syndrome 2
- p.Val776Glu Single submitter Cornelia de Lange syndrome 2
- c.855-2A>G No assertion criteria
- p.Gln1061Ter No assertion criteria developmental and epileptic encephalopathy, 85, with or without midline brain defects
Conflicting classifications of pathogenicity 53
- c.1113+17del Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- c.1254+11G>C Single submitter Cornelia de Lange syndrome 2
- c.1254+4G>A Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- c.1545+4A>C Single submitter Inborn genetic diseases
- c.1911+7A>G Single submitter Cornelia de Lange syndrome 2
- c.2973+16_2973+17del Single submitter Cornelia de Lange syndrome 2
- c.411+6C>T Single submitter Cornelia de Lange syndrome 2
- c.855-15C>T Single submitter Inborn genetic diseases
- c.*14C>T Single submitter History of neurodevelopmental disorder
- c.*2609A>C Single submitter Cornelia de Lange syndrome 2
- c.*2948G>T Single submitter Cornelia de Lange syndrome 2
- c.*4382A>G Single submitter Cornelia de Lange syndrome 2
- c.*5489G>T Single submitter Cornelia de Lange syndrome 2
- p.Ala1072Gly Single submitter Inborn genetic diseases ⚠
- p.Ala153Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala95= Single submitter Cornelia de Lange syndrome 2
- p.Arg1069Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1121His Single submitter SMC1A-related disorder ⚠
- p.Arg188His Single submitter ⚠
- p.Arg196Cys Single submitter SMC1A-related disorder ⚠
- p.Arg218Trp Single submitter Cornelia de Lange syndrome 2
- p.Arg255His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg353Trp Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Arg635His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg665His Single submitter Inborn genetic diseases ⚠
- p.Arg680His Single submitter Inborn genetic diseases ⚠
- p.Arg699Cys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg699His Single submitter intellectual disability ⚠
- p.Arg816His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg92Cys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asn1164Asp Single submitter Inborn genetic diseases ⚠
- p.Asn1166Ser Single submitter Inborn genetic diseases ⚠
- p.Asn1231Ser Single submitter Inborn genetic diseases ⚠
- p.Asp486Gly Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Cys1180Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Glu1060Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1198Lys Single submitter Cornelia de Lange syndrome 2
- p.Glu265del Single submitter
- p.Glu313Lys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Glu381del Single submitter Cornelia de Lange syndrome 2
- p.Glu416Lys Single submitter SMC1A-related disorder ⚠
- p.Gly984Ser Single submitter Inborn genetic diseases ⚠
- p.His836Gln Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ile1084= Single submitter Cornelia de Lange syndrome 2
- p.Ile819Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Leu930= Single submitter Cornelia de Lange syndrome 2
- p.Lys287= Single submitter Cornelia de Lange syndrome 2
- p.Lys338Asn Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Met42Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Met82Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Thr535= Single submitter Cornelia de Lange syndrome 2
- p.Tyr600Phe Single submitter Inborn genetic diseases ⚠
- p.Val639= Single submitter Inborn genetic diseases
Benign 51
- c.109+619T>C Multiple submitters
- c.1338-32= Multiple submitters
- c.2196+260C>T Multiple submitters
- c.2973+32T>G Multiple submitters
- c.2973+43T>G Multiple submitters
- c.2973+45G>A Multiple submitters
- c.3130+183G>A Multiple submitters
- c.412-10C>T Multiple submitters Cornelia de Lange syndrome 2
- c.-19C>T Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- c.109+103dup Single submitter
- c.1337+9C>T Single submitter Cornelia de Lange syndrome 2
- c.2058+9C>G Single submitter Cornelia de Lange syndrome 2
- c.2421-15del Single submitter Cornelia de Lange syndrome 2
- c.2421-15dup Single submitter Cornelia de Lange syndrome 2
- c.2563-7G>A Single submitter Cornelia de Lange syndrome 2
- c.2862+14C>T Single submitter Cornelia de Lange syndrome 2
- c.2862+20G>A Single submitter Cornelia de Lange syndrome 2
- c.2863-14C>T Single submitter Cornelia de Lange syndrome 2
- c.2973+11A>G Single submitter Cornelia de Lange syndrome 2
- c.2973+123_2973+124del Single submitter
- c.2973+26T>G Single submitter
- c.2973+44dup Single submitter
- c.3286-4del Single submitter Cornelia de Lange syndrome 2
- c.3437+256G>A Single submitter
- c.3508-15C>T Single submitter Cornelia de Lange syndrome 2
- c.3619-14C>T Single submitter Cornelia de Lange syndrome 2
- c.412-14T>G Single submitter Cornelia de Lange syndrome 2
- c.854+6_854+7del Single submitter Cornelia de Lange syndrome 2
- c.*1239T>C Single submitter Cornelia de Lange syndrome 2
- c.*1542T>C Single submitter Cornelia de Lange syndrome 2
- c.*2389G>T Single submitter Cornelia de Lange syndrome 2
- c.*2423G>A Single submitter Cornelia de Lange syndrome 2
- c.*2856A>T Single submitter Cornelia de Lange syndrome 2
- c.*3421G>T Single submitter Cornelia de Lange syndrome 2
- c.*3851A>T Single submitter Cornelia de Lange syndrome 2
- c.*4887T>C Single submitter Cornelia de Lange syndrome 2
- c.*5016T>C Single submitter Cornelia de Lange syndrome 2
- c.*5444G>A Single submitter Cornelia de Lange syndrome 2
- c.*5481G>A Single submitter Cornelia de Lange syndrome 2
- c.*931A>G Single submitter Cornelia de Lange syndrome 2
- p.Asp1219Asn Single submitter Cornelia de Lange syndrome 2
- p.Asp872Asn Single submitter Cornelia de Lange syndrome 2
- p.Gln166Arg Single submitter Cornelia de Lange syndrome 2
- p.Glu335Asp Single submitter Cornelia de Lange syndrome 2
- p.Glu90Asp Single submitter Cornelia de Lange syndrome 2
- p.Leu449= Single submitter Cornelia de Lange syndrome 2
- p.Leu641= Single submitter Cornelia de Lange syndrome 2
- p.Lys272= Single submitter Cornelia de Lange syndrome 2
- p.Lys384= Single submitter Cornelia de Lange syndrome 2
- p.Lys678= Single submitter Cornelia de Lange syndrome 2
- p.Val58= Single submitter Cornelia de Lange syndrome 2
Benign/Likely benign 26
- c.1546-11A>G Multiple submitters Cornelia de Lange syndrome 2
- c.1911+12C>G Multiple submitters Cornelia de Lange syndrome 2
- c.1912-14C>T Multiple submitters Cornelia de Lange syndrome 2
- c.2197-5T>C Multiple submitters Inborn genetic diseases
- c.2562+17T>G Multiple submitters Cornelia de Lange syndrome 2
- c.2973+18G>A Multiple submitters Cornelia de Lange syndrome 2
- c.298+19A>G Multiple submitters Cornelia de Lange syndrome 2
- c.3131-19C>T Multiple submitters Cornelia de Lange syndrome 2
- c.3285+4G>A Multiple submitters Cornelia de Lange syndrome 2
- c.3438-18C>T Multiple submitters Cornelia de Lange syndrome 2
- c.3438-3C>T Multiple submitters Cornelia de Lange syndrome 2
- c.3438-7C>T Multiple submitters Cornelia de Lange syndrome 2
- c.616-6G>A Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- c.854+17G>A Multiple submitters Cornelia de Lange syndrome 2
- p.Ala1150= Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Arg275= Multiple submitters Inborn genetic diseases
- p.Asp252= Multiple submitters Cornelia de Lange syndrome 2
- p.Gln391= Multiple submitters Inborn genetic diseases
- p.Glu566= Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Leu522= Multiple submitters Cornelia de Lange syndrome 2
- p.Leu942= Multiple submitters Inborn genetic diseases
- p.Lys897= Multiple submitters Cornelia de Lange syndrome 2
- p.Pro1228Leu Multiple submitters Cornelia de Lange syndrome 2
- p.Tyr441= Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Tyr516= Multiple submitters Inborn genetic diseases
- p.Val233= Multiple submitters Inborn genetic diseases
Likely benign 378
Showing the top 300 by review status; the full set is in the sitemap.
- c.109+13T>G Multiple submitters Cornelia de Lange syndrome 2
- c.109+536C>T Multiple submitters
- c.109+732T>C Multiple submitters
- c.1546-5C>T Multiple submitters Cornelia de Lange syndrome 2
- c.1911+50A>G Multiple submitters
- c.2059-9T>C Multiple submitters Cornelia de Lange syndrome 2
- c.2196+94G>T Multiple submitters
- c.2313+14G>T Multiple submitters Cornelia de Lange syndrome 2
- c.2421-15C>A Multiple submitters Cornelia de Lange syndrome 2
- c.2973+61C>T Multiple submitters
- c.298+12T>C Multiple submitters Cornelia de Lange syndrome 2
- c.299-14G>A Multiple submitters Cornelia de Lange syndrome 2
- c.3618+7C>T Multiple submitters Cornelia de Lange syndrome 2
- c.412-9C>T Multiple submitters Cornelia de Lange syndrome 2
- c.855-14C>T Multiple submitters Cornelia de Lange syndrome 2
- c.*96C>T Multiple submitters
- p.Ala165= Multiple submitters Cornelia de Lange syndrome 2
- p.Ala193= Multiple submitters Cornelia de Lange syndrome 2
- p.Ala640= Multiple submitters Cornelia de Lange syndrome 2
- p.Arg160= Multiple submitters Cornelia de Lange syndrome 2
- p.Arg57= Multiple submitters Cornelia de Lange syndrome 2
- p.Arg586= Multiple submitters Inborn genetic diseases
- p.Asp521= Multiple submitters Cornelia de Lange syndrome 2
- p.Gln498= Multiple submitters Cornelia de Lange syndrome 2
- p.Glu683= Multiple submitters Cornelia de Lange syndrome 2
- p.Glu996= Multiple submitters Cornelia de Lange syndrome 2
- p.Gly1130= Multiple submitters Inborn genetic diseases
- p.Gly900= Multiple submitters Cornelia de Lange syndrome 2
- p.Ile1185= Multiple submitters Cornelia de Lange syndrome 2
- p.Ile143= Multiple submitters Cornelia de Lange syndrome 2
- p.Ile470Val Multiple submitters intellectual disability
- p.Ile938= Multiple submitters
- p.Leu124Phe Multiple submitters Cornelia de Lange syndrome 2
- p.Leu477= Multiple submitters Cornelia de Lange syndrome 2
- p.Leu708= Multiple submitters Cornelia de Lange syndrome 2
- p.Leu731= Multiple submitters Cornelia de Lange syndrome 2
- p.Leu852= Multiple submitters Cornelia de Lange syndrome 2
- p.Leu986= Multiple submitters Cornelia de Lange syndrome 2
- p.Lys317= Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Lys5= Multiple submitters Cornelia de Lange syndrome 2
- p.Pro512= Multiple submitters Cornelia de Lange syndrome 2
- p.Ser882= Multiple submitters Cornelia de Lange syndrome 2
- p.Thr305= Multiple submitters Cornelia de Lange syndrome 2
- p.Thr366= Multiple submitters Cornelia de Lange syndrome 2
- p.Thr526= Multiple submitters Cornelia de Lange syndrome 2
- p.Thr682= Multiple submitters Cornelia de Lange syndrome 2
- p.Thr866= Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects
- p.Tyr117= Multiple submitters Cornelia de Lange syndrome 2
- p.Val842= Multiple submitters Cornelia de Lange syndrome 2
- c.109+16C>T Single submitter Cornelia de Lange syndrome 2
- c.109+19C>A Single submitter Cornelia de Lange syndrome 2
- c.109+19C>T Single submitter Cornelia de Lange syndrome 2
- c.109+572C>T Single submitter
- c.109+617C>T Single submitter
- c.110-12C>T Single submitter Cornelia de Lange syndrome 2
- c.110-16G>A Single submitter Cornelia de Lange syndrome 2
- c.110-17C>T Single submitter Cornelia de Lange syndrome 2
- c.110-19C>T Single submitter Cornelia de Lange syndrome 2
- c.1113+16G>C Single submitter Cornelia de Lange syndrome 2
- c.1114-13G>T Single submitter
- c.1114-15C>T Single submitter Cornelia de Lange syndrome 2
- c.1114-17C>G Single submitter
- c.1114-20C>T Single submitter Cornelia de Lange syndrome 2
- c.1114-21_1114-19del Single submitter Cornelia de Lange syndrome 2
- c.1254+17A>G Single submitter Cornelia de Lange syndrome 2
- c.1254+8A>G Single submitter Cornelia de Lange syndrome 2
- c.1255-15A>G Single submitter
- c.1255-19T>G Single submitter Cornelia de Lange syndrome 2
- c.1337+15A>C Single submitter Cornelia de Lange syndrome 2
- c.1337+17C>T Single submitter Cornelia de Lange syndrome 2
- c.1338-12C>G Single submitter Cornelia de Lange syndrome 2
- c.1338-12del Single submitter Cornelia de Lange syndrome 2
- c.1338-13C>T Single submitter Cornelia de Lange syndrome 2
- c.1338-4G>A Single submitter Cornelia de Lange syndrome 2
- c.1338-9A>G Single submitter Cornelia de Lange syndrome 2
- c.1545+18A>G Single submitter Cornelia de Lange syndrome 2
- c.1545+19C>T Single submitter Cornelia de Lange syndrome 2
- c.1546-13C>G Single submitter Cornelia de Lange syndrome 2
- c.1546-17C>T Single submitter Cornelia de Lange syndrome 2
- c.1546-80C>G Single submitter
- c.1732-19A>G Single submitter Cornelia de Lange syndrome 2
- c.1732-6C>T Single submitter Cornelia de Lange syndrome 2
- c.1732-7C>A Single submitter Cornelia de Lange syndrome 2
- c.1911+11C>T Single submitter Cornelia de Lange syndrome 2
- c.1911+16C>T Single submitter Cornelia de Lange syndrome 2
- c.1911+18C>T Single submitter Cornelia de Lange syndrome 2
- c.1911+3G>A Single submitter
- c.1912-10C>G Single submitter Cornelia de Lange syndrome 2
- c.1912-15C>G Single submitter Cornelia de Lange syndrome 2
- c.1912-4G>T Single submitter Cornelia de Lange syndrome 2
- c.2196+13C>T Single submitter Cornelia de Lange syndrome 2
- c.2196+203= Single submitter
- c.2197-15del Single submitter Cornelia de Lange syndrome 2
- c.2197-6C>T Single submitter
- c.2314-12T>C Single submitter Cornelia de Lange syndrome 2
- c.2314-5C>T Single submitter Cornelia de Lange syndrome 2
- c.2314-7T>C Single submitter Cornelia de Lange syndrome 2
- c.2420+11G>A Single submitter Cornelia de Lange syndrome 2
- c.2420+15T>G Single submitter Cornelia de Lange syndrome 2
- c.2420+17G>A Single submitter
- c.2421-14A>C Single submitter Cornelia de Lange syndrome 2
- c.2421-16C>G Single submitter Cornelia de Lange syndrome 2
- c.2421-16C>T Single submitter Cornelia de Lange syndrome 2
- c.2421-20C>T Single submitter Cornelia de Lange syndrome 2
- c.2421-4A>G Single submitter Cornelia de Lange syndrome 2
- c.2562+11A>G Single submitter Cornelia de Lange syndrome 2
- c.2562+136C>T Single submitter
- c.2562+13A>G Single submitter Cornelia de Lange syndrome 2
- c.2563-13C>T Single submitter Cornelia de Lange syndrome 2
- c.2563-4C>T Single submitter Cornelia de Lange syndrome 2
- c.2708+12C>G Single submitter Cornelia de Lange syndrome 2
- c.2708+13A>G Single submitter Cornelia de Lange syndrome 2
- c.2708+16C>T Single submitter Cornelia de Lange syndrome 2
- c.2708+19G>C Single submitter Cornelia de Lange syndrome 2
- c.2709-10C>A Single submitter Cornelia de Lange syndrome 2
- c.2709-16C>G Single submitter Cornelia de Lange syndrome 2
- c.2709-4T>A Single submitter Cornelia de Lange syndrome 2
- c.279_298+6dup Single submitter
- c.2862+15T>C Single submitter Cornelia de Lange syndrome 2
- c.2862+3G>C Single submitter Cornelia de Lange syndrome 2
- c.2863-13G>A Single submitter Cornelia de Lange syndrome 2
- c.2863-17C>G Single submitter Cornelia de Lange syndrome 2
- c.2863-19C>T Single submitter Cornelia de Lange syndrome 2
- c.2863-6T>C Single submitter Cornelia de Lange syndrome 2
- c.2863-8C>T Single submitter
- c.2863-9C>G Single submitter Cornelia de Lange syndrome 2
- c.2973+12C>T Single submitter Cornelia de Lange syndrome 2
- c.2973+14A>C Single submitter Cornelia de Lange syndrome 2
- c.2973+16A>G Single submitter Cornelia de Lange syndrome 2
- c.2973+16A>T Single submitter Cornelia de Lange syndrome 2
- c.2973+18G>C Single submitter Cornelia de Lange syndrome 2
- c.2973+20G>A Single submitter Cornelia de Lange syndrome 2
- c.2973+23T>G Single submitter
- c.2974-20G>C Single submitter Cornelia de Lange syndrome 2
- c.2974-8G>T Single submitter Cornelia de Lange syndrome 2
- c.2974-9G>C Single submitter
- c.298+10G>A Single submitter
- c.298+18G>C Single submitter Cornelia de Lange syndrome 2
- c.298+7= Single submitter
- c.298+9G>A Single submitter Cornelia de Lange syndrome 2
- c.299-11T>C Single submitter Cornelia de Lange syndrome 2
- c.299-12A>G Single submitter Cornelia de Lange syndrome 2
- c.299-15T>G Single submitter Cornelia de Lange syndrome 2
- c.299-19C>T Single submitter Cornelia de Lange syndrome 2
- c.3130+11C>G Single submitter Cornelia de Lange syndrome 2
- c.3131-15C>T Single submitter Cornelia de Lange syndrome 2
- c.3131-4del Single submitter Cornelia de Lange syndrome 2
- c.3131-5G>C Single submitter Cornelia de Lange syndrome 2
- c.3131-7C>T Single submitter Cornelia de Lange syndrome 2
- c.3285+10A>G Single submitter Cornelia de Lange syndrome 2
- c.3285+12C>T Single submitter Cornelia de Lange syndrome 2
- c.3285+14C>A Single submitter
- c.3286-4C>T Single submitter Cornelia de Lange syndrome 2
- c.3286-7C>T Single submitter Cornelia de Lange syndrome 2
- c.3437+10A>T Single submitter Cornelia de Lange syndrome 2
- c.3437+12C>A Single submitter Cornelia de Lange syndrome 2
- c.3437+12C>T Single submitter Cornelia de Lange syndrome 2
- c.3437+19G>A Single submitter Cornelia de Lange syndrome 2
- c.3437+298G>A Single submitter
- c.3438-12G>T Single submitter Cornelia de Lange syndrome 2
- c.3438-149G>A Single submitter
- c.3438-17T>A Single submitter Cornelia de Lange syndrome 2
- c.3438-8C>T Single submitter Cornelia de Lange syndrome 2
- c.3508-13G>T Single submitter Cornelia de Lange syndrome 2
- c.3508-18T>C Single submitter Cornelia de Lange syndrome 2
- c.3508-20C>T Single submitter Cornelia de Lange syndrome 2
- c.3508-5C>T Single submitter Cornelia de Lange syndrome 2
- c.3508-6C>T Single submitter Cornelia de Lange syndrome 2
- c.3508-7C>T Single submitter Cornelia de Lange syndrome 2
- c.3618+8G>A Single submitter Cornelia de Lange syndrome 2
- c.3619-16C>T Single submitter Cornelia de Lange syndrome 2
- c.412-12G>A Single submitter Cornelia de Lange syndrome 2
- c.412-12G>T Single submitter Cornelia de Lange syndrome 2
- c.412-13C>T Single submitter
- c.412-7T>C Single submitter Cornelia de Lange syndrome 2
- c.615+14C>T Single submitter Cornelia de Lange syndrome 2
- c.615+8G>A Single submitter Cornelia de Lange syndrome 2
- c.616-12_616-11del Single submitter Cornelia de Lange syndrome 2
- c.616-19C>T Single submitter Cornelia de Lange syndrome 2
- c.616-4A>G Single submitter Cornelia de Lange syndrome 2
- c.616-7del Single submitter Cornelia de Lange syndrome 2
- c.855-12C>T Single submitter Cornelia de Lange syndrome 2
- c.855-13C>T Single submitter Cornelia de Lange syndrome 2
- c.855-17C>T Single submitter Cornelia de Lange syndrome 2
- c.855-6C>T Single submitter Cornelia de Lange syndrome 2
- c.-10C>T Single submitter
- c.*3087G>A Single submitter Cornelia de Lange syndrome 2
- c.*4645T>C Single submitter
- p.Ala1021= Single submitter Cornelia de Lange syndrome 2
- p.Ala1058= Single submitter Cornelia de Lange syndrome 2
- p.Ala1087= Single submitter Cornelia de Lange syndrome 2
- p.Ala1197= Single submitter Cornelia de Lange syndrome 2
- p.Ala194= Single submitter Cornelia de Lange syndrome 2
- p.Ala206= Single submitter
- p.Ala322= Single submitter Cornelia de Lange syndrome 2
- p.Ala386= Single submitter Cornelia de Lange syndrome 2
- p.Ala696= Single submitter Cornelia de Lange syndrome 2
- p.Ala728= Single submitter Cornelia de Lange syndrome 2
- p.Ala742= Single submitter Cornelia de Lange syndrome 2
- p.Ala914= Single submitter Cornelia de Lange syndrome 2
- p.Ala974= Single submitter Cornelia de Lange syndrome 2
- p.Ala993= Single submitter Cornelia de Lange syndrome 2
- p.Ala993Ser Single submitter Cornelia de Lange syndrome 2
- p.Arg1066= Single submitter Cornelia de Lange syndrome 2
- p.Arg151= Single submitter Cornelia de Lange syndrome 2
- p.Arg151Lys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg218= Single submitter
- p.Arg329= Single submitter Cornelia de Lange syndrome 2
- p.Arg329His Single submitter Cornelia de Lange syndrome 2
- p.Arg347= Single submitter Cornelia de Lange syndrome 2
- p.Arg353= Single submitter Cornelia de Lange syndrome 2
- p.Arg468= Single submitter Cornelia de Lange syndrome 2
- p.Arg496= Single submitter Cornelia de Lange syndrome 2
- p.Arg499= Single submitter Cornelia de Lange syndrome 2
- p.Arg509= Single submitter Cornelia de Lange syndrome 2
- p.Arg62= Single submitter Cornelia de Lange syndrome 2
- p.Arg664= Single submitter Cornelia de Lange syndrome 2
- p.Arg680= Single submitter Cornelia de Lange syndrome 2
- p.Arg760= Single submitter Cornelia de Lange syndrome 2
- p.Arg782= Single submitter Cornelia de Lange syndrome 2
- p.Arg968= Single submitter Cornelia de Lange syndrome 2
- p.Asn1024= Single submitter
- p.Asn1102= Single submitter Cornelia de Lange syndrome 2
- p.Asn1229= Single submitter Cornelia de Lange syndrome 2
- p.Asn147= Single submitter Cornelia de Lange syndrome 2
- p.Asn34= Single submitter Cornelia de Lange syndrome 2
- p.Asn397= Single submitter Cornelia de Lange syndrome 2
- p.Asn621= Single submitter Cornelia de Lange syndrome 2
- p.Asn743= Single submitter Cornelia de Lange syndrome 2
- p.Asn76Ser Single submitter Cornelia de Lange syndrome 2
- p.Asn826= Single submitter
- p.Asp1082= Single submitter Cornelia de Lange syndrome 2
- p.Asp1209= Single submitter Cornelia de Lange syndrome 2
- p.Asp1219= Single submitter Inborn genetic diseases
- p.Asp620= Single submitter Cornelia de Lange syndrome 2
- p.Asp672= Single submitter Inborn genetic diseases
- p.Asp864= Single submitter Cornelia de Lange syndrome 2
- p.Asp886= Single submitter Cornelia de Lange syndrome 2
- p.Cys1073= Single submitter Cornelia de Lange syndrome 2
- p.Gln1001= Single submitter Cornelia de Lange syndrome 2
- p.Gln1008= Single submitter Cornelia de Lange syndrome 2
- p.Gln1183= Single submitter Cornelia de Lange syndrome 2
- p.Gln222= Single submitter Cornelia de Lange syndrome 2
- p.Gln278= Single submitter Inborn genetic diseases
- p.Gln404= Single submitter Cornelia de Lange syndrome 2
- p.Gln527= Single submitter Inborn genetic diseases
- p.Gln610= Single submitter
- p.Glu1083= Single submitter Cornelia de Lange syndrome 2
- p.Glu116= Single submitter
- p.Glu1176= Single submitter Inborn genetic diseases
- p.Glu119= Single submitter Cornelia de Lange syndrome 2
- p.Glu163= Single submitter Cornelia de Lange syndrome 2
- p.Glu198= Single submitter Cornelia de Lange syndrome 2
- p.Glu248Asp Single submitter Inborn genetic diseases
- p.Glu260= Single submitter Cornelia de Lange syndrome 2
- p.Glu269= Single submitter
- p.Glu352= Single submitter Cornelia de Lange syndrome 2
- p.Glu430= Single submitter Cornelia de Lange syndrome 2
- p.Glu476= Single submitter Cornelia de Lange syndrome 2
- p.Glu51= Single submitter
- p.Glu676= Single submitter Cornelia de Lange syndrome 2
- p.Glu720= Single submitter Cornelia de Lange syndrome 2
- p.Glu778= Single submitter
- p.Glu794= Single submitter Cornelia de Lange syndrome 2
- p.Glu856= Single submitter Cornelia de Lange syndrome 2
- p.Glu86= Single submitter Cornelia de Lange syndrome 2
- p.Glu976= Single submitter Cornelia de Lange syndrome 2
- p.Gly271= Single submitter Cornelia de Lange syndrome 2
- p.Gly614= Single submitter Cornelia de Lange syndrome 2
- p.Gly654= Single submitter Cornelia de Lange syndrome 2
- p.Gly818= Single submitter Cornelia de Lange syndrome 2
- p.Gly88= Single submitter Cornelia de Lange syndrome 2
- p.Gly965= Single submitter Cornelia de Lange syndrome 2
- p.His633= Single submitter Cornelia de Lange syndrome 2
- p.Ile126= Single submitter Cornelia de Lange syndrome 2
- p.Ile158= Single submitter Cornelia de Lange syndrome 2
- p.Ile21= Single submitter Cornelia de Lange syndrome 2
- p.Ile249= Single submitter Cornelia de Lange syndrome 2
- p.Ile470= Single submitter Cornelia de Lange syndrome 2
- p.Ile473= Single submitter Cornelia de Lange syndrome 2
- p.Ile489= Single submitter Cornelia de Lange syndrome 2
- p.Ile9= Single submitter Cornelia de Lange syndrome 2
- p.Ile981= Single submitter Cornelia de Lange syndrome 2
- p.Leu1155= Single submitter Cornelia de Lange syndrome 2
- p.Leu1220= Single submitter Cornelia de Lange syndrome 2
- p.Leu127= Single submitter
- p.Leu134= Single submitter Cornelia de Lange syndrome 2
- p.Leu154= Single submitter Cornelia de Lange syndrome 2
- p.Leu212= Single submitter Cornelia de Lange syndrome 2
- p.Leu223= Single submitter Cornelia de Lange syndrome 2
- p.Leu225= Single submitter Cornelia de Lange syndrome 2
- p.Leu263= Single submitter
- p.Leu341= Single submitter Cornelia de Lange syndrome 2
- p.Leu367= Single submitter Cornelia de Lange syndrome 2
- p.Leu4= Single submitter Cornelia de Lange syndrome 2
- p.Leu407= Single submitter Cornelia de Lange syndrome 2
- p.Leu41= Single submitter Cornelia de Lange syndrome 2
- p.Leu576= Single submitter Cornelia de Lange syndrome 2
- p.Leu64= Single submitter Cornelia de Lange syndrome 2
- p.Leu645= Single submitter Cornelia de Lange syndrome 2
Uncertain significance 387
Showing the top 300 by review status; the full set is in the sitemap.
- c.1114-3C>T Multiple submitters Cornelia de Lange syndrome 2
- c.1254+5G>A Multiple submitters Cornelia de Lange syndrome 2
- c.1545+5G>A Multiple submitters Cornelia de Lange syndrome 2
- c.2313+3T>G Multiple submitters Cornelia de Lange syndrome 2
- c.2421-3_2421-2del Multiple submitters Cornelia de Lange syndrome 2
- c.2563-3C>G Multiple submitters Cornelia de Lange syndrome 2
- c.2563-3C>T Multiple submitters Cornelia de Lange syndrome 2
- c.2708+7G>A Multiple submitters Cornelia de Lange syndrome 2
- c.-1C>T Multiple submitters Cornelia de Lange syndrome 2
- c.*4367T>C Multiple submitters Cornelia de Lange syndrome 2
- p.Ala165Val Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Ala616Val Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg160His Multiple submitters SMC1A-related disorder ⚠
- p.Arg188Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg218Gln Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg255Pro Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg275Gln Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg377Gln Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg468Gln Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg626Cys Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg627Cys Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg782Gln Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Arg799Gln Multiple submitters ⚠
- p.Arg923Cys Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Asn1071Ser Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Asn239Ser Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Asn397Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn615Ser Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Asn902Ser Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Asp1156Glu Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Asp214Gly Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Asp252Glu Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Asp405Asn Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Asp490Asn Multiple submitters ⚠
- p.Asp624Glu Multiple submitters Cornelia de Lange syndrome 2
- p.Gln1018Arg Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Gln1177Arg Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Gln610Arg Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Gln909His Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Gln931Arg Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Gln994Arg Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Gly785Cys Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Gly818Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile1062Met Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Ile126Val Multiple submitters Inborn genetic diseases
- p.Ile784Val Multiple submitters Inborn genetic diseases
- p.Leu930Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys129Arg Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Pro1224Gln Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Ser102Ala Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Ser1213Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser657Arg Multiple submitters ⚠
- p.Ser956Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser970Thr Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Thr724Ile Multiple submitters Cornelia de Lange syndrome 2
- p.Thr913Ile Multiple submitters Cornelia de Lange syndrome 2 ⚠
- p.Tyr1204Phe Multiple submitters developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Val176Met Multiple submitters Cornelia de Lange syndrome 2 ⚠
- c.109+558C>T Single submitter
- c.109+589_109+590del Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects
- c.109+604G>T Single submitter
- c.1337+3_1337+5del Single submitter
- c.1337+5G>A Single submitter SMC1A-related disorder
- c.1338-4G>C Single submitter Cornelia de Lange syndrome 2
- c.1546-10C>G Single submitter Cornelia de Lange syndrome 2
- c.1731+3G>T Single submitter Cornelia de Lange syndrome 2
- c.2196+5G>T Single submitter Cornelia de Lange syndrome 2
- c.2314-15G>A Single submitter Cornelia de Lange syndrome 2
- c.2420+5G>A Single submitter Cornelia de Lange syndrome 2
- c.2563-8G>A Single submitter
- c.2563-9T>A Single submitter Cornelia de Lange syndrome 2
- c.2862+4A>C Single submitter Cornelia de Lange syndrome 2
- c.2862+4A>G Single submitter Cornelia de Lange syndrome 2
- c.2862+6T>A Single submitter
- c.2973+5G>A Single submitter Cornelia de Lange syndrome 2
- c.2974-9G>A Single submitter Cornelia de Lange syndrome 2
- c.3131-13T>G Single submitter Cornelia de Lange syndrome 2
- c.3131-17_3131-16inv Single submitter Cornelia de Lange syndrome 2
- c.3507+3G>A Single submitter Cornelia de Lange syndrome 2
- c.3507+5G>A Single submitter Cornelia de Lange syndrome 2
- c.3618+10G>A Single submitter
- c.3619-5_3619-3del Single submitter
- c.411+3G>T Single submitter Cornelia de Lange syndrome 2
- c.855-13C>A Single submitter
- c.855-13C>G Single submitter Cornelia de Lange syndrome 2
- c.-275G>T Single submitter Cornelia de Lange syndrome 2
- c.-7G>A Single submitter Cornelia de Lange syndrome 2
- c.*1028C>T Single submitter Cornelia de Lange syndrome 2
- c.*1040G>A Single submitter Cornelia de Lange syndrome 2
- c.*1240A>G Single submitter Cornelia de Lange syndrome 2
- c.*1559G>A Single submitter Cornelia de Lange syndrome 2
- c.*1914A>G Single submitter Cornelia de Lange syndrome 2
- c.*1934T>C Single submitter Cornelia de Lange syndrome 2
- c.*1961C>T Single submitter Cornelia de Lange syndrome 2
- c.*1967C>T Single submitter Cornelia de Lange syndrome 2
- c.*19G>A Single submitter
- c.*2050T>C Single submitter Cornelia de Lange syndrome 2
- c.*2086T>C Single submitter Cornelia de Lange syndrome 2
- c.*2225G>A Single submitter Cornelia de Lange syndrome 2
- c.*2435T>G Single submitter Cornelia de Lange syndrome 2
- c.*2490T>C Single submitter Cornelia de Lange syndrome 2
- c.*2663C>T Single submitter Cornelia de Lange syndrome 2
- c.*2936C>T Single submitter Cornelia de Lange syndrome 2
- c.*3025C>T Single submitter Cornelia de Lange syndrome 2
- c.*3305A>G Single submitter Cornelia de Lange syndrome 2
- c.*3392T>C Single submitter Cornelia de Lange syndrome 2
- c.*3484G>A Single submitter Cornelia de Lange syndrome 2
- c.*3596C>T Single submitter Cornelia de Lange syndrome 2
- c.*3671C>T Single submitter Cornelia de Lange syndrome 2
- c.*3777C>G Single submitter Cornelia de Lange syndrome 2
- c.*3807G>A Single submitter Cornelia de Lange syndrome 2
- c.*381A>G Single submitter Cornelia de Lange syndrome 2
- c.*4087G>A Single submitter Cornelia de Lange syndrome 2
- c.*4156A>G Single submitter Cornelia de Lange syndrome 2
- c.*41G>A Single submitter Cornelia de Lange syndrome 2
- c.*4443G>A Single submitter Cornelia de Lange syndrome 2
- c.*4581T>C Single submitter Cornelia de Lange syndrome 2
- c.*488A>G Single submitter Cornelia de Lange syndrome 2
- c.*4998T>C Single submitter Cornelia de Lange syndrome 2
- c.*5051G>T Single submitter Cornelia de Lange syndrome 2
- c.*5197T>C Single submitter Cornelia de Lange syndrome 2
- c.*5251G>T Single submitter Cornelia de Lange syndrome 2
- c.*5352C>T Single submitter Cornelia de Lange syndrome 2
- c.*5355G>A Single submitter Cornelia de Lange syndrome 2
- c.*5443C>G Single submitter Cornelia de Lange syndrome 2
- c.*5451A>G Single submitter Cornelia de Lange syndrome 2
- c.*5506A>T Single submitter Cornelia de Lange syndrome 2
- c.*5692G>A Single submitter Cornelia de Lange syndrome 2
- c.*5722A>T Single submitter Cornelia de Lange syndrome 2
- c.*578C>T Single submitter Cornelia de Lange syndrome 2
- c.*5853A>G Single submitter Cornelia de Lange syndrome 2
- c.*5855G>T Single submitter Cornelia de Lange syndrome 2
- c.*5915T>C Single submitter Cornelia de Lange syndrome 2
- c.*5946C>T Single submitter Cornelia de Lange syndrome 2
- c.*626A>G Single submitter Cornelia de Lange syndrome 2
- c.*665A>G Single submitter Cornelia de Lange syndrome 2
- c.*675A>G Single submitter Cornelia de Lange syndrome 2
- c.*703G>T Single submitter Cornelia de Lange syndrome 2
- p.Ala1052Val Single submitter ⚠
- p.Ala1094Thr Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala1197delinsAsnSerThr Single submitter
- p.Ala193Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala199= Single submitter
- p.Ala199Thr Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Ala219Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala29Gly Single submitter Inborn genetic diseases ⚠
- p.Ala314Val Single submitter ⚠
- p.Ala390Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala419Thr Single submitter ⚠
- p.Ala466Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala663Thr Single submitter ⚠
- p.Ala728Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala879Thr Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala932Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala932Thr Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ala974Pro Single submitter ⚠
- p.Ala993Thr Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg1019His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg1051Gln Single submitter ⚠
- p.Arg1069Gly Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg1069His Single submitter Cornelia de Lange syndrome 2
- p.Arg1090Cys Single submitter ⚠
- p.Arg1090Leu Single submitter ⚠
- p.Arg1123Gln Single submitter Inborn genetic diseases ⚠
- p.Arg131Cys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg131His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg171Gln Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg208Trp Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg255Cys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg275Trp Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg295Gln Single submitter ⚠
- p.Arg329Cys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg329Leu Single submitter ⚠
- p.Arg329Pro Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg406Cys Single submitter ⚠
- p.Arg434Gln Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Arg488Cys Single submitter ⚠
- p.Arg491His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg509His Single submitter ⚠
- p.Arg518His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg554_Ile557del Single submitter
- p.Arg554Gln Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg599Cys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg627Ser Single submitter ⚠
- p.Arg62Gln Single submitter ⚠
- p.Arg664Gln Single submitter ⚠
- p.Arg680Cys Single submitter Inborn genetic diseases ⚠
- p.Arg782Trp Single submitter Inborn genetic diseases ⚠
- p.Arg787His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg816Cys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg926His Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Arg92Pro Single submitter Inborn genetic diseases ⚠
- p.Asn1102Lys Single submitter ⚠
- p.Asn1102Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asn1164Ser Single submitter ⚠
- p.Asn239Ile Single submitter Inborn genetic diseases
- p.Asn246Lys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asn621Ser Single submitter ⚠
- p.Asn743Ser Single submitter ⚠
- p.Asn801Lys Single submitter SMC1A-related disorder ⚠
- p.Asn812Asp Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp1209Asn Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp1209Gly Single submitter Inborn genetic diseases ⚠
- p.Asp471Gly Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp543Gly Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp555Glu Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp658Ala Single submitter ⚠
- p.Asp667Val Single submitter ⚠
- p.Asp764Gly Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp774Asn Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp833Gly Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp886Gly Single submitter Cornelia de Lange syndrome 2
- p.Asp961Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Asp989Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Cys523Trp Single submitter ⚠
- p.Cys556Arg Single submitter ⚠
- p.Gln1013His Single submitter Cornelia de Lange syndrome 2
- p.Gln1057His Single submitter
- p.Gln1177Glu Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gln1207= Single submitter Cornelia de Lange syndrome 2
- p.Gln361Arg Single submitter
- p.Gln423= Single submitter Cornelia de Lange syndrome 2
- p.Gln479Pro Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gln497Arg Single submitter ⚠
- p.Gln936Glu Single submitter ⚠
- p.Gln958Arg Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Glu1032Lys Single submitter ⚠
- p.Glu104Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1075Gly Single submitter ⚠
- p.Glu1198Gln Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Glu204Gly Single submitter congenital heart disease ⚠
- p.Glu248_Lys251del Single submitter Cornelia de Lange syndrome 2
- p.Glu290Gly Single submitter ⚠
- p.Glu430Val Single submitter ⚠
- p.Glu566Lys Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Glu687= Single submitter Cornelia de Lange syndrome 2
- p.Glu767del Single submitter Cornelia de Lange syndrome 2
- p.Glu773Asp Single submitter Inborn genetic diseases ⚠
- p.Glu793Asp Single submitter ⚠
- p.Glu824Gly Single submitter ⚠
- p.Glu87_Glu90del Single submitter Cornelia de Lange syndrome 2
- p.Glu883Lys Single submitter
- p.Glu904Lys Single submitter X-linked complex neurodevelopmental disorder ⚠
- p.Glu90Val Single submitter ⚠
- p.Glu911del Single submitter Cornelia de Lange syndrome 2
- p.Glu998Asp Single submitter ⚠
- p.Gly100Arg Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gly1119Glu Single submitter ⚠
- p.Gly1202Arg Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gly138Asp Single submitter History of neurodevelopmental disorder ⚠
- p.Gly22Arg Single submitter ⚠
- p.Gly271Asp Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gly2Arg Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gly331Val Single submitter ⚠
- p.Gly362Ser Single submitter ⚠
- p.Gly457Ala Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gly457Arg Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gly565= Single submitter Cornelia de Lange syndrome 2
- p.Gly565Glu Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Gly590Glu Single submitter Inborn genetic diseases ⚠
- p.Gly655Ala Single submitter ⚠
- p.Gly785Ala Single submitter ⚠
- p.Gly899Arg Single submitter ⚠
- p.Gly900Ser Single submitter ⚠
- p.His115Arg Single submitter ⚠
- p.His115Asn Single submitter ⚠
- p.His307Arg Single submitter Cornelia de Lange syndrome 2 ⚠
- p.His636Tyr Single submitter Cornelia de Lange syndrome 2 ⚠
- p.His836Tyr Single submitter Inborn genetic diseases ⚠
- p.His859Tyr Single submitter ⚠
- p.Ile1084Met Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ile1144Thr Single submitter ⚠
- p.Ile1158Thr Single submitter ⚠
- p.Ile1187Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ile128Val Single submitter ⚠
- p.Ile143Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ile158Val Single submitter ⚠
- p.Ile20Thr Single submitter SMC1A-related disorder ⚠
- p.Ile284Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ile309Thr Single submitter ⚠
- p.Ile30Val Single submitter ⚠
- p.Ile31Phe Single submitter ⚠
- p.Ile31Val Single submitter Inborn genetic diseases ⚠
- p.Ile489Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ile507Leu Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Ile751Thr Single submitter ⚠
- p.Ile862Thr Single submitter Cornelia de Lange syndrome 2
- p.Ile915Val Single submitter ⚠
- p.Leu124Ser Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Leu228Ile Single submitter SMC1A-related disorder ⚠
- p.Leu407Val Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Leu425Pro Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Leu455Pro Single submitter ⚠
- p.Leu708Val Single submitter developmental and epileptic encephalopathy, 85, with or without midline brain defects ⚠
- p.Leu719Pro Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Leu817Phe Single submitter ⚠
- p.Leu828Val Single submitter Inborn genetic diseases ⚠
- p.Leu852Pro Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Lys1009Arg Single submitter Cornelia de Lange syndrome 2 ⚠
- p.Lys1037Arg Single submitter ⚠