SMC3 — 802 ClinVar variants
All ClinVar germline SMC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 241 flagged for review →
28 Pathogenic · 3 Pathogenic/Likely pathogenic · 53 Likely pathogenic · 40 Conflicting · 87 Benign · 15 Benign/Likely benign · 281 Likely benign · 295 Uncertain significance
Full SMC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 241
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
SMC3 p.Val682Ile
Pathogenic
Single submitter
Cornelia de Lange syndrome 3
Predictors agree, ClinVar conflicts 14
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SMC3 p.Arg1003Cys
Conflicting
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg1003His
Conflicting
Single submitter
congenital heart disease
-
SMC3 p.Arg61Trp
Conflicting
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg879Pro
Conflicting
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg928Trp
Conflicting
Single submitter
Inborn genetic diseases
-
SMC3 p.Asn833Ser
Conflicting
Single submitter
Inborn genetic diseases
-
SMC3 p.Asp92Asn
Conflicting
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Cys1134Arg
Conflicting
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Glu688Gln
Conflicting
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Leu1125Val
Conflicting
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Lys427Arg
Conflicting
Single submitter
Inborn genetic diseases
-
SMC3 p.Ser1121Phe
Conflicting
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Thr1174Ala
Conflicting
Single submitter
SMC3-related disorder
-
SMC3 p.Tyr669Asp
Conflicting
Single submitter
Cornelia de Lange syndrome 3
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
Predictors lean, ClinVar uncertain 150
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SMC3 p.Ala484Gly
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 3
-
SMC3 p.Arg381Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC3 p.Arg675Gln
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 3
-
SMC3 p.Asn513Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC3 p.Asn699His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC3 p.Asp1008His
Uncertain significance
Multiple submitters
SMC3-related disorder
-
SMC3 p.Gly856Ala
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 3
- SMC3 p.Thr570Met Uncertain significance Multiple submitters
-
SMC3 p.Val1020Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC3 p.Val1157Leu
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 3
-
SMC3 p.Ala104Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Ala1053Gly Uncertain significance Single submitter
- SMC3 p.Ala1148Asp Uncertain significance Single submitter
-
SMC3 p.Ala150Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Ala211Ser
Uncertain significance
Single submitter
neurodevelopmental disorder
- SMC3 p.Ala237Thr Uncertain significance Single submitter
- SMC3 p.Ala293Thr Uncertain significance Single submitter
-
SMC3 p.Ala317Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Ala415Thr Uncertain significance Single submitter
-
SMC3 p.Ala482Thr
Uncertain significance
Single submitter
multiple congenital anomalies/dysmorphic syndrome
-
SMC3 p.Ala643Val
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Arg100Lys Uncertain significance Single submitter
- SMC3 p.Arg1024Gly Uncertain significance Single submitter
- SMC3 p.Arg132Gln Uncertain significance Single submitter
- SMC3 p.Arg171Gln Uncertain significance Single submitter
-
SMC3 p.Arg221Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Arg325Cys Uncertain significance Single submitter
- SMC3 p.Arg469Ile Uncertain significance Single submitter
-
SMC3 p.Arg520His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg618Lys
Uncertain significance
Single submitter
SMC3-related disorder
- SMC3 p.Arg644Cys Uncertain significance Single submitter
- SMC3 p.Arg661Pro Uncertain significance Single submitter
-
SMC3 p.Arg805Cys
Uncertain significance
Single submitter
autism spectrum disorder
-
SMC3 p.Arg818Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg88Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg88Trp
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg903Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Arg928Gly Uncertain significance Single submitter
-
SMC3 p.Asn123Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Asn134Ile Uncertain significance Single submitter
-
SMC3 p.Asn190Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Asn426Lys Uncertain significance Single submitter
-
SMC3 p.Asn442Asp
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Asn442Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Asn442Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Asn604Ser Uncertain significance Single submitter
-
SMC3 p.Asn616Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Asn709Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Asn811Tyr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Asn885His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Asp1061Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Asp1184Asn Uncertain significance Single submitter
-
SMC3 p.Asp262Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Asp564Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Asp86Ala Uncertain significance Single submitter
- SMC3 p.Asp884Glu Uncertain significance Single submitter
-
SMC3 p.Asp913Glu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Asp92Tyr Uncertain significance Single submitter
- SMC3 p.Cys650Tyr Uncertain significance Single submitter
-
SMC3 p.Gln1004Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Gln296Leu Uncertain significance Single submitter
-
SMC3 p.Gln331His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Glu1016Ala Uncertain significance Single submitter
-
SMC3 p.Glu1072Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Glu1211Asp Uncertain significance Single submitter
-
SMC3 p.Glu126Gly
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Glu390Asp
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Glu450Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Glu654Lys Uncertain significance Single submitter
- SMC3 p.Glu686Lys Uncertain significance Single submitter
-
SMC3 p.Gly1064Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Gly129Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Gly142Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Gly32Ser Uncertain significance Single submitter
-
SMC3 p.Gly856Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.His527Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.His768Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.His981Tyr Uncertain significance Single submitter
- SMC3 p.Ile1029Val Uncertain significance Single submitter
- SMC3 p.Ile144Thr Uncertain significance Single submitter
-
SMC3 p.Ile176Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Ile3Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Ile3Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Ile512Val Uncertain significance Single submitter
- SMC3 p.Ile632Thr Uncertain significance Single submitter
- SMC3 p.Ile91Met Uncertain significance Single submitter
- SMC3 p.Leu111Ser Uncertain significance Single submitter
-
SMC3 p.Leu1122Ser
Uncertain significance
Single submitter
SMC3-related disorder
-
SMC3 p.Leu124Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Leu305Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Leu497Ile
Uncertain significance
Single submitter
SMC3-related disorder
- SMC3 p.Leu736Val Uncertain significance Single submitter
-
SMC3 p.Leu781Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Leu883Ser Uncertain significance Single submitter
-
SMC3 p.Lys1012Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Lys1034Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Lys1038Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Lys1059Arg Uncertain significance Single submitter
- SMC3 p.Lys105Glu Uncertain significance Single submitter
- SMC3 p.Lys113Arg Uncertain significance Single submitter
-
SMC3 p.Lys180Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Lys310Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Lys396Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Lys410Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Lys673Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Lys778Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Lys795Glu Uncertain significance Single submitter
-
SMC3 p.Lys984Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Met1015Val Uncertain significance Single submitter
- SMC3 p.Met1160Thr Uncertain significance Single submitter
-
SMC3 p.Met1162Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Met147Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Met636Thr Uncertain significance Single submitter
-
SMC3 p.Met877Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Met907Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Met907Thr Uncertain significance Single submitter
- SMC3 p.Met912Ile Uncertain significance Single submitter
- SMC3 p.Phe110Val Uncertain significance Single submitter
-
SMC3 p.Phe42Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Phe587Leu Uncertain significance Single submitter
-
SMC3 p.Phe587Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Phe954Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Phe954Ser Uncertain significance Single submitter
-
SMC3 p.Pro1136Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Pro950Ser Uncertain significance Single submitter
- SMC3 p.Ser1037Phe Uncertain significance Single submitter
-
SMC3 p.Ser1065Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Ser1077Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Ser1081Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Ser1085Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Ser1101Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Thr1103Ile Uncertain significance Single submitter
- SMC3 p.Thr1103Pro Uncertain significance Single submitter
-
SMC3 p.Thr665Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Thr853Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Thr857Ala
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Thr857Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Tyr1187Cys Uncertain significance Single submitter
-
SMC3 p.Tyr168Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Tyr532Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Tyr600Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Tyr668Cys Uncertain significance Single submitter
- SMC3 p.Tyr669Asn Uncertain significance Single submitter
-
SMC3 p.Val1043Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Val162Ala Uncertain significance Single submitter
- SMC3 p.Val274Gly Uncertain significance Single submitter
-
SMC3 p.Val444Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Val595Ile
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Val858Ala
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Cys549Trp
Uncertain significance
No assertion criteria
SMC3-related disorder
Predictors split 75
The independent predictors disagree with each other — read with care.
-
SMC3 p.Asp884Gly
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 3
-
SMC3 p.Glu1163Gly
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 3
-
SMC3 p.Gly1050Asp
Uncertain significance
Multiple submitters
Cornelia de Lange syndrome 3
-
SMC3 p.Met770Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SMC3 p.Ala1126Ser
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Ala1148Val
Likely pathogenic
Single submitter
SMC3-related disorder
- SMC3 p.Ala150Val Uncertain significance Single submitter
- SMC3 p.Ala222Gly Uncertain significance Single submitter
- SMC3 p.Ala484Pro Uncertain significance Single submitter
-
SMC3 p.Arg236His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg236Pro
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg634Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg634His
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg701Cys
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg701His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg758His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Arg805His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Arg903Cys
Conflicting
Single submitter
Inborn genetic diseases
-
SMC3 p.Arg928Gln
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Arg944Gln Likely benign Single submitter
- SMC3 p.Asn233Lys Uncertain significance Single submitter
-
SMC3 p.Asn577Lys
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Asn591Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Asn604Ile Uncertain significance Single submitter
- SMC3 p.Asn811Asp Uncertain significance Single submitter
- SMC3 p.Asp311Glu Uncertain significance Single submitter
-
SMC3 p.Asp311Gly
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Asp419Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Cys939Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- SMC3 p.Gln322Pro Pathogenic Single submitter
-
SMC3 p.Gln679Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Glu161Asp Uncertain significance Single submitter
- SMC3 p.Glu276Lys Likely benign Single submitter
-
SMC3 p.Glu346Gly
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Glu449Lys Uncertain significance Single submitter
-
SMC3 p.Glu738Ala
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Glu780Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Glu780Gln
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Glu921Gln Uncertain significance Single submitter
- SMC3 p.Gly1188Ala Uncertain significance Single submitter
-
SMC3 p.Gly502Glu
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.His1153Arg Uncertain significance Single submitter
-
SMC3 p.His518Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Ile1161Val Uncertain significance Single submitter
-
SMC3 p.Ile704Thr
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Ile711Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Leu1141Met Uncertain significance Single submitter
-
SMC3 p.Leu1179Val
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Leu700Pro
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Lys1185Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Lys300Glu Likely pathogenic Single submitter
- SMC3 p.Lys838Asn Uncertain significance Single submitter
-
SMC3 p.Lys838Thr
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Met609Val Uncertain significance Single submitter
-
SMC3 p.Met648Thr
Likely pathogenic
Single submitter
Inborn genetic diseases
-
SMC3 p.Met739Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Met741Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Phe519Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC3 p.Phe576Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Pro1177Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Pro71Thr
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Pro755Arg
Likely pathogenic
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Pro755Leu
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
- SMC3 p.Thr1173Ala Uncertain significance Single submitter
- SMC3 p.Thr926Ile Uncertain significance Single submitter
-
SMC3 p.Trp473Arg
Conflicting
Single submitter
intellectual disability
-
SMC3 p.Trp904Arg
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Tyr1026His
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Tyr547Cys
Uncertain significance
Single submitter
Cornelia de Lange syndrome
- SMC3 p.Val550Leu Uncertain significance Single submitter
-
SMC3 p.Val843Ala
Uncertain significance
Single submitter
Cornelia de Lange syndrome 3
-
SMC3 p.Ala1148Ser
Likely pathogenic
No assertion criteria
Cornelia de Lange syndrome 3
-
SMC3 p.Asn145Lys
Likely pathogenic
No assertion criteria
Cornelia de Lange syndrome 3
-
SMC3 p.Asp374Ala
Likely benign
No assertion criteria
Neurodevelopmental abnormality
-
SMC3 p.Glu488Lys
Pathogenic
No assertion criteria
Cornelia de Lange syndrome 3
All SMC3 variants
Pathogenic 28
- p.Gln1147Glu Multiple submitters Cornelia de Lange syndrome 3
- p.Gln494fs Multiple submitters Cornelia de Lange syndrome 3
- p.Arg221Ter Single submitter Cornelia de Lange syndrome 3
- p.Arg447Ter Single submitter
- p.Arg521Ter Single submitter Inborn genetic diseases
- p.Arg967Ter Single submitter Cornelia de Lange syndrome 3
- p.Asn513fs Single submitter
- p.Asp240del Single submitter
- p.Gln1035Arg Single submitter
- p.Gln1152Ter Single submitter Cornelia de Lange syndrome 3
- p.Gln260Ter Single submitter SMC3-related disorder
- p.Gln322Pro Single submitter ⚠
- p.Gln748Ter Single submitter Inborn genetic diseases
- p.Glu844Ter Single submitter Cornelia de Lange syndrome 3
- p.Gly1117Ser Single submitter
- p.His917Pro Single submitter Inborn genetic diseases
- p.Leu631Pro Single submitter Cornelia de Lange syndrome 3
- p.Leu696Pro Single submitter
- p.Tyr376Cys Single submitter Cornelia de Lange syndrome 3
- p.Val682Ile Single submitter Cornelia de Lange syndrome 3 ⚠
- c.2536-5_2541del No assertion criteria Cornelia de Lange syndrome 3
- p.Glu358fs No assertion criteria Cornelia de Lange syndrome 3
- p.Glu488del No assertion criteria Cornelia de Lange syndrome 3
- p.Glu488Lys No assertion criteria Cornelia de Lange syndrome 3 ⚠
- p.Gly380_Gln384del No assertion criteria Cornelia de Lange syndrome 3
- p.Gly666Ala No assertion criteria Cornelia de Lange syndrome 3
- p.Phe47Leu No assertion criteria Cornelia de Lange syndrome 3
- p.Thr235del No assertion criteria Cornelia de Lange syndrome 3
Pathogenic/Likely pathogenic 3
- p.Ala485del Multiple submitters Cornelia de Lange syndrome 3
- p.Ile196Thr Multiple submitters Cornelia de Lange syndrome 3
- p.Met648Val Multiple submitters Cornelia de Lange syndrome 3
Likely pathogenic 53
- p.Glu95Lys Multiple submitters Cornelia de Lange syndrome
- p.Ser127Arg Multiple submitters Cornelia de Lange syndrome
- p.Trp473Gly Multiple submitters Cornelia de Lange syndrome 3
- c.1812+1G>A Single submitter
- c.430-1G>T Single submitter Cornelia de Lange syndrome 3
- p.Ala1028Pro Single submitter Cornelia de Lange syndrome 3
- p.Ala1148Val Single submitter SMC3-related disorder ⚠
- p.Ala622Phe Single submitter Cornelia de Lange syndrome 3
- p.Arg155Gly Single submitter Cornelia de Lange syndrome 3
- p.Arg236Pro Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg360Ter Single submitter Cornelia de Lange syndrome 3
- p.Arg634His Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg701Cys Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asn134Ser Single submitter
- p.Asn426fs Single submitter
- p.Asn577Lys Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asp311Gly Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asp392His Single submitter Cornelia de Lange syndrome 3
- p.Asp594fs Single submitter
- p.Cys549Arg Single submitter SMC3-related disorder
- p.Gln1119Arg Single submitter
- p.Glu287dup Single submitter Cornelia de Lange syndrome 3
- p.Glu449fs Single submitter Cornelia de Lange syndrome 3
- p.Glu780Gln Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Gly1188Val Single submitter Cornelia de Lange syndrome
- p.Gly129Arg Single submitter Inborn genetic diseases
- p.Gly32Asp Single submitter SMC3-related disorder
- p.Gly502Glu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Gly655Asp Single submitter Cornelia de Lange syndrome 3
- p.Ile704Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Leu573Ser Single submitter SMC3-related disorder
- p.Leu642Pro Single submitter Cornelia de Lange syndrome 3
- p.Leu800Pro Single submitter Cornelia de Lange syndrome 3
- p.Leu832Pro Single submitter Cornelia de Lange syndrome 3
- p.Lys188Glu Single submitter
- p.Lys300Glu Single submitter ⚠
- p.Lys838Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys985del Single submitter Cornelia de Lange syndrome 3
- p.Met648Thr Single submitter Inborn genetic diseases ⚠
- p.Phe385Leu Single submitter
- p.Pro755Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ser36Tyr Single submitter
- p.Ser864Pro Single submitter Cornelia de Lange syndrome 3
- p.Thr783Pro Single submitter Cornelia de Lange syndrome 3
- p.Trp473Cys Single submitter Cornelia de Lange syndrome 1
- p.Tyr376Ser Single submitter Cornelia de Lange syndrome 3
- p.Tyr669del Single submitter
- p.Val1100Leu Single submitter
- p.Val1210_Glu1211insPheVal Single submitter Cornelia de Lange syndrome 3
- p.Val552Asp Single submitter Inborn genetic diseases
- p.Val658Asp Single submitter
- p.Ala1148Ser No assertion criteria Cornelia de Lange syndrome 3 ⚠
- p.Asn145Lys No assertion criteria Cornelia de Lange syndrome 3 ⚠
Conflicting classifications of pathogenicity 40
- c.1410-6_1410-3del Single submitter Inborn genetic diseases
- c.1670+7G>A Single submitter intellectual disability
- c.2268+4C>T Single submitter Inborn genetic diseases
- c.2535+15T>G Single submitter Cornelia de Lange syndrome 3
- c.2645-8C>T Single submitter Cornelia de Lange syndrome 3
- c.2892+3T>A Single submitter Cornelia de Lange syndrome 3
- c.2893-3T>C Single submitter Cornelia de Lange syndrome 3
- c.723+4A>T Single submitter Cornelia de Lange syndrome 3
- p.Arg1003Cys Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg1003His Single submitter congenital heart disease ⚠
- p.Arg61Trp Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg879Pro Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg879Ter Single submitter ⚠
- p.Arg903Cys Single submitter Inborn genetic diseases ⚠
- p.Arg928Trp Single submitter Inborn genetic diseases ⚠
- p.Asn123= Single submitter Cornelia de Lange syndrome 3
- p.Asn833Ser Single submitter Inborn genetic diseases ⚠
- p.Asp169= Single submitter Cornelia de Lange syndrome 3
- p.Asp92Asn Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Cys1134Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Glu208Asp Single submitter Cornelia de Lange syndrome 3
- p.Glu688del Single submitter Inborn genetic diseases
- p.Glu688Gln Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Gly666= Single submitter Cornelia de Lange syndrome 3
- p.His527= Single submitter Inborn genetic diseases
- p.Ile721= Single submitter Cornelia de Lange syndrome 3
- p.Leu1125Val Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Leu777= Single submitter Inborn genetic diseases
- p.Lys207= Single submitter Inborn genetic diseases
- p.Lys427Arg Single submitter Inborn genetic diseases ⚠
- p.Lys978= Single submitter Inborn genetic diseases
- p.Ser1121Phe Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ser85= Single submitter Inborn genetic diseases
- p.Thr1174Ala Single submitter SMC3-related disorder ⚠
- p.Thr863= Single submitter Inborn genetic diseases
- p.Trp473Arg Single submitter intellectual disability ⚠
- p.Tyr560= Single submitter Inborn genetic diseases
- p.Tyr669Asp Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Tyr831= Single submitter Inborn genetic diseases
- p.Val1056= Single submitter Inborn genetic diseases
Benign 87
- c.1092-18T>C Multiple submitters Cornelia de Lange syndrome 3
- c.130+188T>G Multiple submitters
- c.130+193G>A Multiple submitters
- c.1306-159A>G Multiple submitters
- c.1410-48T>C Multiple submitters
- c.1509+130A>G Multiple submitters
- c.198+7G>A Multiple submitters Cornelia de Lange syndrome 3
- c.2116+23G>A Multiple submitters Cornelia de Lange syndrome 3
- c.2117-84G>A Multiple submitters
- c.2427+77G>A Multiple submitters
- c.2428-79C>T Multiple submitters
- c.2428-92A>G Multiple submitters
- c.2535+28del Multiple submitters
- c.2535+64G>A Multiple submitters
- c.2644+48A>G Multiple submitters
- c.3105+83G>T Multiple submitters
- c.350+21T>A Multiple submitters
- c.350+30T>G Multiple submitters
- c.351-99T>G Multiple submitters
- c.351-9T>C Multiple submitters Cornelia de Lange syndrome 3
- c.3582+51G>A Multiple submitters
- c.547+92A>G Multiple submitters
- c.548-45A>C Multiple submitters
- c.724-6dup Multiple submitters Cornelia de Lange syndrome 3
- c.805-26A>G Multiple submitters
- c.91+67C>G Multiple submitters
- c.969+23A>G Multiple submitters
- c.970-8G>A Multiple submitters Cornelia de Lange syndrome 3
- c.*158G>A Multiple submitters Cornelia de Lange syndrome 3
- p.Ser1013= Multiple submitters Inborn genetic diseases
- p.Tyr455= Multiple submitters Inborn genetic diseases
- c.1305+166_1305+167dup Single submitter
- c.1306-256G>A Single submitter
- c.1306-303T>C Single submitter
- c.15+89_15+90insA Single submitter
- c.1509+16del Single submitter Cornelia de Lange syndrome 3
- c.1510-178A>G Single submitter
- c.16-158dup Single submitter
- c.16-160_16-158dup Single submitter
- c.16-38dup Single submitter
- c.16-76_16-73del Single submitter
- c.1670+184T>C Single submitter
- c.1813-126C>T Single submitter
- c.1963+16T>C Single submitter Cornelia de Lange syndrome 3
- c.1964-156del Single submitter
- c.1964-156dup Single submitter
- c.199-205A>G Single submitter
- c.2116+245G>A Single submitter
- c.2116+325del Single submitter
- c.2268+131dup Single submitter
- c.2268+180G>A Single submitter
- c.2268+262A>G Single submitter
- c.2268+278G>A Single submitter
- c.2269-190_2269-181del Single submitter
- c.2427+170A>T Single submitter
- c.2427+204dup Single submitter
- c.2428-195G>A Single submitter
- c.2535+28dup Single submitter
- c.2645-8del Single submitter Cornelia de Lange syndrome 3
- c.2645-8dup Single submitter Cornelia de Lange syndrome 3
- c.270+17_270+18del Single submitter Cornelia de Lange syndrome 3
- c.270+18del Single submitter Cornelia de Lange syndrome 3
- c.3105+134A>G Single submitter
- c.350+21del Single submitter Cornelia de Lange syndrome 3
- c.350+21dup Single submitter Cornelia de Lange syndrome 3
- c.3582+161dup Single submitter
- c.3583-257C>T Single submitter
- c.430-3dup Single submitter Cornelia de Lange syndrome 3
- c.547+214del Single submitter
- c.547+214dup Single submitter
- c.548-146T>G Single submitter
- c.723+181A>G Single submitter
- c.723+188A>G Single submitter
- c.724-199_724-194del Single submitter
- c.804+197T>A Single submitter
- c.804+303_804+305dup Single submitter
- c.805-190C>T Single submitter
- c.91+225_91+228del Single submitter
- c.92-130_92-128dup Single submitter
- c.92-193G>A Single submitter
- c.92-298_92-296dup Single submitter
- c.-456A>G Single submitter
- c.-92G>T Single submitter Cornelia de Lange syndrome 3
- c.*297T>A Single submitter Cornelia de Lange syndrome 3
- c.*329C>T Single submitter Cornelia de Lange syndrome 3
- c.*332A>G Single submitter Cornelia de Lange syndrome 3
- p.Asn233= Single submitter
Benign/Likely benign 15
- c.1092-8T>G Multiple submitters Cornelia de Lange syndrome 3
- c.1671-4T>C Multiple submitters Inborn genetic diseases
- c.1671-6A>G Multiple submitters Cornelia de Lange syndrome 3
- c.2644+6T>A Multiple submitters Cornelia de Lange syndrome 3
- c.270+18dup Multiple submitters Cornelia de Lange syndrome 3
- c.2893-17A>G Multiple submitters Cornelia de Lange syndrome 3
- c.3298-3dup Multiple submitters Cornelia de Lange syndrome 3
- c.548-5_548-4dup Multiple submitters Inborn genetic diseases
- c.92-19A>G Multiple submitters Cornelia de Lange syndrome 3
- c.-99C>A Multiple submitters Cornelia de Lange syndrome 3
- p.Ala1165= Multiple submitters Inborn genetic diseases
- p.Asp92= Multiple submitters Cornelia de Lange syndrome 3
- p.Gln1113= Multiple submitters Inborn genetic diseases
- p.Leu962= Multiple submitters Cornelia de Lange syndrome 3
- p.Tyr669= Multiple submitters Inborn genetic diseases
Likely benign 281
- c.15+134G>A Multiple submitters
- c.198+3G>A Multiple submitters Cornelia de Lange syndrome 3
- c.199-202A>C Multiple submitters
- c.2268+13A>G Multiple submitters Cornelia de Lange syndrome 3
- c.2268+84C>T Multiple submitters
- c.2535+18T>G Multiple submitters Cornelia de Lange syndrome 3
- c.2645-11C>T Multiple submitters Cornelia de Lange syndrome 3
- c.2892+23T>C Multiple submitters
- c.3105+15G>A Multiple submitters Cornelia de Lange syndrome 3
- c.3106-10T>C Multiple submitters Cornelia de Lange syndrome 3
- c.3582+26A>C Multiple submitters
- c.970-14T>C Multiple submitters Cornelia de Lange syndrome 3
- c.970-4A>G Multiple submitters Cornelia de Lange syndrome 3
- p.Ala414Val Multiple submitters Inborn genetic diseases
- p.Arg928= Multiple submitters Cornelia de Lange syndrome 3
- p.Glu1076= Multiple submitters Cornelia de Lange syndrome 3
- p.Gly1107= Multiple submitters Cornelia de Lange syndrome 3
- p.Ile270= Multiple submitters Inborn genetic diseases
- p.Ile91= Multiple submitters Cornelia de Lange syndrome 3
- p.Leu472= Multiple submitters Inborn genetic diseases
- p.Leu781= Multiple submitters Inborn genetic diseases
- p.Leu932= Multiple submitters Inborn genetic diseases
- p.Lys350= Multiple submitters Cornelia de Lange syndrome 3
- p.Phe23= Multiple submitters Inborn genetic diseases
- p.Pro1136= Multiple submitters Cornelia de Lange syndrome 3
- p.Ser320Thr Multiple submitters Inborn genetic diseases
- p.Ser994= Multiple submitters Cornelia de Lange syndrome 3
- p.Thr279= Multiple submitters Inborn genetic diseases
- p.Thr630= Multiple submitters Cornelia de Lange syndrome 3
- p.Val1087Ile Multiple submitters Inborn genetic diseases
- c.1091+17C>T Single submitter Cornelia de Lange syndrome 3
- c.1091+19A>G Single submitter Cornelia de Lange syndrome 3
- c.1092-13C>T Single submitter
- c.1092-14T>C Single submitter
- c.130+17G>T Single submitter Cornelia de Lange syndrome 3
- c.1305+136A>T Single submitter
- c.1305+14T>C Single submitter Cornelia de Lange syndrome 3
- c.131-20A>G Single submitter Cornelia de Lange syndrome 3
- c.1409+19G>A Single submitter Cornelia de Lange syndrome 3
- c.1409+20_1409+21del Single submitter Cornelia de Lange syndrome 3
- c.1409+8T>C Single submitter Cornelia de Lange syndrome 3
- c.1410-20G>A Single submitter Cornelia de Lange syndrome 3
- c.1410-30_1410-25del Single submitter
- c.1410-9A>G Single submitter
- c.15+11C>T Single submitter Cornelia de Lange syndrome 3
- c.15+12G>A Single submitter Cornelia de Lange syndrome 3
- c.15+14G>A Single submitter Cornelia de Lange syndrome 3
- c.15+17C>T Single submitter
- c.15+8C>G Single submitter Cornelia de Lange syndrome 3
- c.1509+16T>C Single submitter Cornelia de Lange syndrome 3
- c.1510-11A>C Single submitter Cornelia de Lange syndrome 3
- c.1510-4A>G Single submitter Cornelia de Lange syndrome 3
- c.1510-7C>A Single submitter Cornelia de Lange syndrome 3
- c.16-158del Single submitter
- c.16-16G>A Single submitter Cornelia de Lange syndrome 3
- c.1670+206G>A Single submitter
- c.1670+20A>G Single submitter Cornelia de Lange syndrome 3
- c.1670+6_1670+7insAAC Single submitter Cornelia de Lange syndrome 3
- c.1670+6del Single submitter Cornelia de Lange syndrome 3
- c.1671-12_1671-11del Single submitter
- c.1812+16A>T Single submitter Cornelia de Lange syndrome 3
- c.1813-19G>A Single submitter Cornelia de Lange syndrome 3
- c.1963+14A>T Single submitter Cornelia de Lange syndrome 3
- c.1963+15T>C Single submitter Cornelia de Lange syndrome 3
- c.1963+18T>G Single submitter Cornelia de Lange syndrome 3
- c.1963+8A>G Single submitter Cornelia de Lange syndrome 3
- c.1964-13G>A Single submitter Cornelia de Lange syndrome 3
- c.1964-15_1964-14del Single submitter Cornelia de Lange syndrome 3
- c.1964-157_1964-156dup Single submitter
- c.1964-17A>G Single submitter Cornelia de Lange syndrome 3
- c.1964-20T>C Single submitter Cornelia de Lange syndrome 3
- c.1964-302C>G Single submitter
- c.199-14T>A Single submitter Cornelia de Lange syndrome 3
- c.199-15T>G Single submitter Cornelia de Lange syndrome 3
- c.2116+10T>A Single submitter Cornelia de Lange syndrome 3
- c.2116+11G>A Single submitter Cornelia de Lange syndrome 3
- c.2116+20A>C Single submitter Cornelia de Lange syndrome 3
- c.2117-15C>T Single submitter Cornelia de Lange syndrome 3
- c.2117-181C>G Single submitter
- c.2117-217T>C Single submitter
- c.2117-9C>T Single submitter Cornelia de Lange syndrome 3
- c.2268+11A>G Single submitter Cornelia de Lange syndrome 3
- c.2268+20del Single submitter
- c.2269-14A>T Single submitter Cornelia de Lange syndrome 3
- c.2269-4A>G Single submitter
- c.2427+10C>G Single submitter Cornelia de Lange syndrome 3
- c.2427+3A>G Single submitter
- c.2428-166T>C Single submitter
- c.2428-6T>A Single submitter Cornelia de Lange syndrome 3
- c.2535+11_2535+12del Single submitter Cornelia de Lange syndrome 3
- c.2535+11_2535+13del Single submitter Cornelia de Lange syndrome 3
- c.2535+11G>T Single submitter Cornelia de Lange syndrome 3
- c.2535+13T>G Single submitter Cornelia de Lange syndrome 3
- c.2535+14T>G Single submitter Cornelia de Lange syndrome 3
- c.2535+15_2535+16insG Single submitter Cornelia de Lange syndrome 3
- c.2535+16T>G Single submitter Cornelia de Lange syndrome 3
- c.2535+17T>G Single submitter Cornelia de Lange syndrome 3
- c.2535+19T>G Single submitter Cornelia de Lange syndrome 3
- c.2535+27_2535+28dup Single submitter
- c.2535+7A>G Single submitter Cornelia de Lange syndrome 3
- c.2535+9G>T Single submitter Cornelia de Lange syndrome 3
- c.2644+19A>C Single submitter Cornelia de Lange syndrome 3
- c.2645-13C>T Single submitter Cornelia de Lange syndrome 3
- c.2645-172A>G Single submitter
- c.2645-17G>T Single submitter Cornelia de Lange syndrome 3
- c.2645-4T>C Single submitter
- c.2645-5C>G Single submitter Cornelia de Lange syndrome 3
- c.270+136A>G Single submitter
- c.270+97T>A Single submitter
- c.271-12A>G Single submitter Cornelia de Lange syndrome 3
- c.271-17T>C Single submitter
- c.271-6T>G Single submitter Cornelia de Lange syndrome 3
- c.271-85T>C Single submitter
- c.2893-10C>T Single submitter
- c.2893-12T>G Single submitter Cornelia de Lange syndrome 3
- c.2893-15A>G Single submitter Cornelia de Lange syndrome 3
- c.2893-16del Single submitter Cornelia de Lange syndrome 3
- c.3105+10G>A Single submitter
- c.3105+110T>C Single submitter
- c.3105+9C>T Single submitter
- c.3106-17T>A Single submitter Cornelia de Lange syndrome 3
- c.3106-18A>G Single submitter Cornelia de Lange syndrome 3
- c.3106-8_3106-4del Single submitter Cornelia de Lange syndrome 3
- c.3297+18T>G Single submitter Cornelia de Lange syndrome 3
- c.3297+20C>T Single submitter Cornelia de Lange syndrome 3
- c.3297+9C>A Single submitter
- c.3298-10T>A Single submitter Cornelia de Lange syndrome 3
- c.3298-14_3298-13del Single submitter Cornelia de Lange syndrome 3
- c.3298-14A>G Single submitter Cornelia de Lange syndrome 3
- c.3298-17_3298-13del Single submitter Cornelia de Lange syndrome 3
- c.3475+12G>A Single submitter Cornelia de Lange syndrome 3
- c.3475+15_3475+16del Single submitter Cornelia de Lange syndrome 3
- c.3476-18A>G Single submitter Cornelia de Lange syndrome 3
- c.350+12T>C Single submitter Cornelia de Lange syndrome 3
- c.350+19T>C Single submitter Cornelia de Lange syndrome 3
- c.351-13T>C Single submitter Cornelia de Lange syndrome 3
- c.3582+18T>C Single submitter Cornelia de Lange syndrome 3
- c.3582+19_3582+24del Single submitter Cornelia de Lange syndrome 3
- c.3583-19T>C Single submitter Cornelia de Lange syndrome 3
- c.3583-29G>T Single submitter
- c.429+11T>C Single submitter Cornelia de Lange syndrome 3
- c.429+18C>T Single submitter Cornelia de Lange syndrome 3
- c.429+19C>A Single submitter Cornelia de Lange syndrome 3
- c.429+19C>T Single submitter Cornelia de Lange syndrome 3
- c.430-18T>A Single submitter Cornelia de Lange syndrome 3
- c.430-19A>T Single submitter Cornelia de Lange syndrome 3
- c.547+8_547+11del Single submitter Cornelia de Lange syndrome 3
- c.548-10T>G Single submitter
- c.548-267A>T Single submitter
- c.548-8C>A Single submitter Cornelia de Lange syndrome 3
- c.548-8C>G Single submitter Cornelia de Lange syndrome 3
- c.723+20C>T Single submitter Cornelia de Lange syndrome 3
- c.724-14G>T Single submitter Cornelia de Lange syndrome 3
- c.724-15dup Single submitter Cornelia de Lange syndrome 3
- c.724-15T>G Single submitter Cornelia de Lange syndrome 3
- c.804+14C>T Single submitter Cornelia de Lange syndrome 3
- c.804+304_804+305dup Single submitter
- c.804+305dup Single submitter
- c.805-108T>C Single submitter
- c.805-224G>T Single submitter
- c.92-12G>T Single submitter
- c.92-18del Single submitter Cornelia de Lange syndrome 3
- c.969+14C>T Single submitter Cornelia de Lange syndrome 3
- c.969+16A>G Single submitter Cornelia de Lange syndrome 3
- c.969+17A>G Single submitter Cornelia de Lange syndrome 3
- c.970-143T>C Single submitter
- c.970-7T>G Single submitter Cornelia de Lange syndrome 3
- c.-74C>A Single submitter Cornelia de Lange syndrome 3
- c.*17A>G Single submitter Cornelia de Lange syndrome 3
- c.*9TAC[3] Single submitter
- p.Ala1137= Single submitter Cornelia de Lange syndrome 3
- p.Ala1183= Single submitter Cornelia de Lange syndrome 3
- p.Ala128= Single submitter Cornelia de Lange syndrome 3
- p.Ala293= Single submitter Cornelia de Lange syndrome 3
- p.Ala446= Single submitter Cornelia de Lange syndrome 3
- p.Ala599= Single submitter Cornelia de Lange syndrome 3
- p.Ala892= Single submitter Cornelia de Lange syndrome 3
- p.Arg1024= Single submitter Cornelia de Lange syndrome 3
- p.Arg1176= Single submitter Cornelia de Lange syndrome 3
- p.Arg257= Single submitter Inborn genetic diseases
- p.Arg272= Single submitter Cornelia de Lange syndrome 3
- p.Arg469= Single submitter Cornelia de Lange syndrome 3
- p.Arg661= Single submitter Cornelia de Lange syndrome 3
- p.Arg661Trp Single submitter
- p.Arg88= Single submitter Cornelia de Lange syndrome 3
- p.Arg944Gln Single submitter ⚠
- p.Asn134= Single submitter Inborn genetic diseases
- p.Asn435Ser Single submitter
- p.Asn525= Single submitter Cornelia de Lange syndrome 3
- p.Asn973= Single submitter
- p.Asp784= Single submitter Cornelia de Lange syndrome 3
- p.Asp798= Single submitter
- p.Asp875= Single submitter Cornelia de Lange syndrome 3
- p.Cys549= Single submitter
- p.Gln1045= Single submitter Cornelia de Lange syndrome 3
- p.Gln1084= Single submitter Cornelia de Lange syndrome 3
- p.Gln367= Single submitter Cornelia de Lange syndrome 3
- p.Gln480= Single submitter Cornelia de Lange syndrome 3
- p.Gln724= Single submitter Cornelia de Lange syndrome 3
- p.Glu1027= Single submitter Inborn genetic diseases
- p.Glu1178= Single submitter Cornelia de Lange syndrome 3
- p.Glu191= Single submitter Cornelia de Lange syndrome 3
- p.Glu224= Single submitter Cornelia de Lange syndrome 3
- p.Glu276= Single submitter
- p.Glu276Lys Single submitter ⚠
- p.Glu315= Single submitter Cornelia de Lange syndrome 3
- p.Glu371= Single submitter Cornelia de Lange syndrome 3
- p.Glu389= Single submitter Cornelia de Lange syndrome 3
- p.Glu398= Single submitter
- p.Glu479= Single submitter Cornelia de Lange syndrome 3
- p.Glu52= Single submitter
- p.Glu584= Single submitter
- p.Glu688= Single submitter
- p.Glu844= Single submitter Cornelia de Lange syndrome 3
- p.Glu896= Single submitter Cornelia de Lange syndrome 3
- p.Glu945= Single submitter Cornelia de Lange syndrome 3
- p.Glu95= Single submitter Cornelia de Lange syndrome 3
- p.Gly103= Single submitter Cornelia de Lange syndrome 3
- p.Gly164= Single submitter Cornelia de Lange syndrome 3
- p.Gly531= Single submitter Cornelia de Lange syndrome 3
- p.His625Tyr Single submitter
- p.His911= Single submitter Cornelia de Lange syndrome 3
- p.His981= Single submitter Cornelia de Lange syndrome 3
- p.Ile196= Single submitter Cornelia de Lange syndrome 3
- p.Ile610= Single submitter Cornelia de Lange syndrome 3
- p.Leu1031= Single submitter Cornelia de Lange syndrome 3
- p.Leu111= Single submitter Cornelia de Lange syndrome 3
- p.Leu1122= Single submitter Cornelia de Lange syndrome 3
- p.Leu124= Single submitter Cornelia de Lange syndrome 3
- p.Leu193= Single submitter Cornelia de Lange syndrome 3
- p.Leu305= Single submitter Cornelia de Lange syndrome 3
- p.Leu333= Single submitter Inborn genetic diseases
- p.Leu344= Single submitter Cornelia de Lange syndrome 3
- p.Leu375= Single submitter
- p.Leu465= Single submitter Cornelia de Lange syndrome 3
- p.Leu631= Single submitter
- p.Leu689= Single submitter Cornelia de Lange syndrome 3
- p.Leu692= Single submitter Cornelia de Lange syndrome 3
- p.Leu700= Single submitter Cornelia de Lange syndrome 3
- p.Leu742= Single submitter Cornelia de Lange syndrome 3
- p.Leu933= Single submitter Cornelia de Lange syndrome 3
- p.Leu976= Single submitter Cornelia de Lange syndrome 3
- p.Lys113= Single submitter Inborn genetic diseases
- p.Lys194= Single submitter Cornelia de Lange syndrome 3
- p.Lys238= Single submitter
- p.Lys357Arg Single submitter Inborn genetic diseases
- p.Lys624= Single submitter Cornelia de Lange syndrome 3
- p.Lys934= Single submitter Cornelia de Lange syndrome 3
- p.Met1162Val Single submitter Inborn genetic diseases
- p.Met739Val Single submitter Cornelia de Lange syndrome 3
- p.Phe11= Single submitter Cornelia de Lange syndrome 3
- p.Phe385= Single submitter
- p.Phe546= Single submitter Cornelia de Lange syndrome 3
- p.Pro601= Single submitter Cornelia de Lange syndrome 3
- p.Ser1074Asn Single submitter Inborn genetic diseases
- p.Ser1121= Single submitter Cornelia de Lange syndrome 3
- p.Ser127= Single submitter Cornelia de Lange syndrome 3
- p.Ser387= Single submitter
- p.Ser886= Single submitter Cornelia de Lange syndrome 3
- p.Ser886Ala Single submitter Cornelia de Lange syndrome 3
- p.Ser97= Single submitter
- p.Thr1202= Single submitter
- p.Thr303= Single submitter Cornelia de Lange syndrome 3
- p.Thr373= Single submitter Cornelia de Lange syndrome 3
- p.Thr548= Single submitter Cornelia de Lange syndrome 3
- p.Thr752= Single submitter
- p.Thr890= Single submitter Cornelia de Lange syndrome 3
- p.Thr926= Single submitter
- p.Tyr600= Single submitter Cornelia de Lange syndrome 3
- p.Tyr668= Single submitter Cornelia de Lange syndrome 3
- p.Tyr979= Single submitter Cornelia de Lange syndrome 3
- p.Val1200= Single submitter Cornelia de Lange syndrome 3
- p.Val121= Single submitter Cornelia de Lange syndrome 3
- p.Val458= Single submitter Cornelia de Lange syndrome 3
- p.Val528= Single submitter Cornelia de Lange syndrome 3
- p.Val658= Single submitter
- c.270+8A>G No assertion criteria SMC3-related disorder
- p.Ala317= No assertion criteria SMC3-related disorder
- p.Asp374Ala No assertion criteria Neurodevelopmental abnormality ⚠
- p.Glu289= No assertion criteria SMC3-related disorder
- p.Pro544= No assertion criteria SMC3-related disorder
Uncertain significance 295
- c.430-3T>C Multiple submitters Cornelia de Lange syndrome 3
- p.Ala484Gly Multiple submitters Cornelia de Lange syndrome 3 ⚠
- p.Arg381Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg520Ser Multiple submitters Cornelia de Lange syndrome 3
- p.Arg675Gln Multiple submitters Cornelia de Lange syndrome 3 ⚠
- p.Arg944Ter Multiple submitters Cornelia de Lange syndrome 3
- p.Asn513Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn699His Multiple submitters Inborn genetic diseases ⚠
- p.Asp1008His Multiple submitters SMC3-related disorder ⚠
- p.Asp884Gly Multiple submitters Cornelia de Lange syndrome 3 ⚠
- p.Glu1163Gly Multiple submitters Cornelia de Lange syndrome 3 ⚠
- p.Gly1050Asp Multiple submitters Cornelia de Lange syndrome 3 ⚠
- p.Gly1071del Multiple submitters Cornelia de Lange syndrome 3
- p.Gly856Ala Multiple submitters Cornelia de Lange syndrome 3 ⚠
- p.Met770Val Multiple submitters Inborn genetic diseases ⚠
- p.Thr117Met Multiple submitters Cornelia de Lange syndrome 3
- p.Thr570Met Multiple submitters ⚠
- p.Val1020Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val1157Leu Multiple submitters Cornelia de Lange syndrome 3 ⚠
- c.130+11C>G Single submitter Cornelia de Lange syndrome 3
- c.131-3C>T Single submitter Cornelia de Lange syndrome 3
- c.1410-11_1410-6del Single submitter Cornelia de Lange syndrome 3
- c.15+5_15+12del Single submitter Cornelia de Lange syndrome 3
- c.1509+4G>C Single submitter Cornelia de Lange syndrome 3
- c.1509+5G>C Single submitter Cornelia de Lange syndrome 3
- c.1510-8A>G Single submitter
- c.2116+20A>G Single submitter Cornelia de Lange syndrome 3
- c.2268+5G>C Single submitter Cornelia de Lange syndrome 3
- c.2427+13C>T Single submitter Cornelia de Lange syndrome 3
- c.2427+6T>C Single submitter Cornelia de Lange syndrome 3
- c.2535+4T>G Single submitter Cornelia de Lange syndrome 3
- c.2536-3C>T Single submitter Cornelia de Lange syndrome 3
- c.2892+9T>C Single submitter Cornelia de Lange syndrome 3
- c.3105+3A>T Single submitter Cornelia de Lange syndrome 3
- c.3297+3A>G Single submitter
- c.3297+6A>G Single submitter
- c.3475+3A>G Single submitter SMC3-related disorder
- c.350+1G>A Single submitter
- c.350+3A>G Single submitter
- c.350+5G>A Single submitter
- c.351-4A>G Single submitter Cornelia de Lange syndrome 3
- c.3583-16_3583-13dup Single submitter
- c.429+16G>T Single submitter Cornelia de Lange syndrome 3
- c.429+9A>G Single submitter Cornelia de Lange syndrome 3
- c.430-3del Single submitter Cornelia de Lange syndrome 3
- c.430-820A>T Single submitter
- c.547+6A>G Single submitter Cornelia de Lange syndrome 3
- c.723+6A>G Single submitter Cornelia de Lange syndrome 3
- c.970-8_970-4del Single submitter
- c.-115T>C Single submitter Cornelia de Lange syndrome 3
- c.-136A>G Single submitter Cornelia de Lange syndrome 3
- c.-65T>A Single submitter Cornelia de Lange syndrome 3
- c.-90G>A Single submitter Cornelia de Lange syndrome 3
- c.*12T>A Single submitter Cornelia de Lange syndrome 3
- c.*228C>T Single submitter Cornelia de Lange syndrome 3
- c.*304T>G Single submitter Cornelia de Lange syndrome 3
- c.*327G>C Single submitter Cornelia de Lange syndrome 3
- c.*36A>G Single submitter Cornelia de Lange syndrome 3
- c.*50C>G Single submitter Cornelia de Lange syndrome 3
- c.*77C>T Single submitter Cornelia de Lange syndrome 3
- p.Ala104Ser Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ala1053Gly Single submitter ⚠
- p.Ala1126Ser Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ala1148Asp Single submitter ⚠
- p.Ala150Ser Single submitter Inborn genetic diseases ⚠
- p.Ala150Val Single submitter ⚠
- p.Ala211Ser Single submitter neurodevelopmental disorder ⚠
- p.Ala222Gly Single submitter ⚠
- p.Ala237Thr Single submitter ⚠
- p.Ala293Thr Single submitter ⚠
- p.Ala317Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ala415Thr Single submitter ⚠
- p.Ala478dup Single submitter
- p.Ala478Gly Single submitter
- p.Ala482Glu Single submitter Cornelia de Lange syndrome 3
- p.Ala482Thr Single submitter multiple congenital anomalies/dysmorphic syndrome ⚠
- p.Ala484Pro Single submitter ⚠
- p.Ala504= Single submitter
- p.Ala643Val Single submitter Inborn genetic diseases ⚠
- p.Arg100Lys Single submitter ⚠
- p.Arg1024Gly Single submitter ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg171Gln Single submitter ⚠
- p.Arg221Gln Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg236His Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg272Cys Single submitter Inborn genetic diseases
- p.Arg325Cys Single submitter ⚠
- p.Arg469Ile Single submitter ⚠
- p.Arg520Cys Single submitter Cornelia de Lange syndrome 3
- p.Arg520His Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg618Lys Single submitter SMC3-related disorder ⚠
- p.Arg634Cys Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg644Cys Single submitter ⚠
- p.Arg661Pro Single submitter ⚠
- p.Arg701His Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg758His Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg805Cys Single submitter autism spectrum disorder ⚠
- p.Arg805fs Single submitter SMC3-related disorder
- p.Arg805His Single submitter Inborn genetic diseases ⚠
- p.Arg818Ile Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg88Gln Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg88Trp Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg903Leu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg928Gln Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Arg928Gly Single submitter ⚠
- p.Arg99Ter Single submitter
- p.Asn123Tyr Single submitter Inborn genetic diseases ⚠
- p.Asn134Ile Single submitter ⚠
- p.Asn145fs Single submitter
- p.Asn190Ser Single submitter Inborn genetic diseases ⚠
- p.Asn233Lys Single submitter ⚠
- p.Asn426Lys Single submitter ⚠
- p.Asn442Asp Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asn442Lys Single submitter Inborn genetic diseases ⚠
- p.Asn442Ser Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asn591Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asn604Ile Single submitter ⚠
- p.Asn604Ser Single submitter ⚠
- p.Asn616Ser Single submitter Inborn genetic diseases ⚠
- p.Asn709Thr Single submitter Inborn genetic diseases ⚠
- p.Asn811Asp Single submitter ⚠
- p.Asn811Tyr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asn885His Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asp1061Glu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asp1184Asn Single submitter ⚠
- p.Asp262Glu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asp311Glu Single submitter ⚠
- p.Asp419Glu Single submitter Inborn genetic diseases ⚠
- p.Asp489del Single submitter Cornelia de Lange syndrome 3
- p.Asp564Glu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asp802= Single submitter Cornelia de Lange syndrome 3
- p.Asp802del Single submitter
- p.Asp86Ala Single submitter ⚠
- p.Asp884Glu Single submitter ⚠
- p.Asp913Glu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Asp92Tyr Single submitter ⚠
- p.Asp988= Single submitter Cornelia de Lange syndrome 3
- p.Cys650Tyr Single submitter ⚠
- p.Cys939Gly Single submitter Inborn genetic diseases ⚠
- p.Gln1004Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Gln1152His Single submitter
- p.Gln296Leu Single submitter ⚠
- p.Gln298Lys Single submitter
- p.Gln331His Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Gln495Leu Single submitter Inborn genetic diseases
- p.Gln679Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Gln813Ter Single submitter
- p.Gln964Ter Single submitter
- p.Glu1016Ala Single submitter ⚠
- p.Glu1072Gln Single submitter Inborn genetic diseases ⚠
- p.Glu1211Asp Single submitter ⚠
- p.Glu126Gly Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Glu161Asp Single submitter ⚠
- p.Glu346Gly Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Glu390Asp Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Glu398fs Single submitter Cornelia de Lange syndrome 3
- p.Glu449Lys Single submitter ⚠
- p.Glu450Ala Single submitter Inborn genetic diseases ⚠
- p.Glu654Lys Single submitter ⚠
- p.Glu686Lys Single submitter ⚠
- p.Glu738Ala Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Glu780Asp Single submitter Inborn genetic diseases ⚠
- p.Glu822Ter Single submitter Cornelia de Lange syndrome 3
- p.Glu921Gln Single submitter ⚠
- p.Gly1060del Single submitter
- p.Gly1064Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1188Ala Single submitter ⚠
- p.Gly129_Ser131del Single submitter
- p.Gly129Val Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Gly142Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Gly32Ser Single submitter ⚠
- p.Gly856Asp Single submitter Inborn genetic diseases ⚠
- p.His1153Arg Single submitter ⚠
- p.His518Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.His527Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.His768Arg Single submitter Inborn genetic diseases ⚠
- p.His981Tyr Single submitter ⚠
- p.Ile1029Val Single submitter ⚠
- p.Ile1161Val Single submitter ⚠
- p.Ile144Thr Single submitter ⚠
- p.Ile176Leu Single submitter Inborn genetic diseases ⚠
- p.Ile3Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ile3Val Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ile512Val Single submitter ⚠
- p.Ile562del Single submitter
- p.Ile632Thr Single submitter ⚠
- p.Ile711Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ile824= Single submitter Cornelia de Lange syndrome 3
- p.Ile894Thr Single submitter
- p.Ile91Met Single submitter ⚠
- p.Leu111Ser Single submitter ⚠
- p.Leu1122Ser Single submitter SMC3-related disorder ⚠
- p.Leu1141Met Single submitter ⚠
- p.Leu1179Val Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Leu124Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Leu305Val Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Leu497del Single submitter
- p.Leu497Ile Single submitter SMC3-related disorder ⚠
- p.Leu696Val Single submitter Cornelia de Lange syndrome 3
- p.Leu700Pro Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Leu736Val Single submitter ⚠
- p.Leu763= Single submitter Cornelia de Lange syndrome 3
- p.Leu767= Single submitter Cornelia de Lange syndrome 3
- p.Leu767_His768insGly Single submitter
- p.Leu781Pro Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Leu883Ser Single submitter ⚠
- p.Lys1012Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys1034Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys1038Asn Single submitter Inborn genetic diseases ⚠
- p.Lys1038Glu Single submitter Cornelia de Lange syndrome 3
- p.Lys1059Arg Single submitter ⚠
- p.Lys105Glu Single submitter ⚠
- p.Lys113Arg Single submitter ⚠
- p.Lys1185Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys180Gln Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys310Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys396Arg Single submitter Inborn genetic diseases ⚠
- p.Lys409Arg Single submitter
- p.Lys410Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys621Ter Single submitter Cornelia de Lange syndrome 3
- p.Lys673Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys695= Single submitter Cornelia de Lange syndrome 3
- p.Lys778Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Lys795Glu Single submitter ⚠
- p.Lys838Asn Single submitter ⚠
- p.Lys889fs Single submitter
- p.Lys984Gln Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Met1015Val Single submitter ⚠
- p.Met1160Thr Single submitter ⚠
- p.Met1160Val Single submitter Cornelia de Lange syndrome 3
- p.Met1162Thr Single submitter Inborn genetic diseases ⚠
- p.Met147Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Met609Val Single submitter ⚠
- p.Met636Thr Single submitter ⚠
- p.Met739Ile Single submitter Inborn genetic diseases ⚠
- p.Met741_Lys743del Single submitter
- p.Met741Thr Single submitter Inborn genetic diseases ⚠
- p.Met877Ile Single submitter Inborn genetic diseases ⚠
- p.Met907Arg Single submitter Inborn genetic diseases ⚠
- p.Met907Thr Single submitter ⚠
- p.Met912Ile Single submitter ⚠
- p.Phe110fs Single submitter
- p.Phe110Val Single submitter ⚠
- p.Phe42Ser Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Phe519Leu Single submitter Inborn genetic diseases ⚠
- p.Phe576Leu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Phe587Leu Single submitter ⚠
- p.Phe587Ser Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Phe954Cys Single submitter Inborn genetic diseases ⚠
- p.Phe954Ser Single submitter ⚠
- p.Pro1049= Single submitter Cornelia de Lange syndrome 3
- p.Pro1088Arg Single submitter Cornelia de Lange syndrome 3
- p.Pro1136Leu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Pro1177Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Pro71Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Pro755Leu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Pro950Ser Single submitter ⚠
- p.Ser1013Leu Single submitter
- p.Ser1037Phe Single submitter ⚠
- p.Ser1065Arg Single submitter Inborn genetic diseases ⚠
- p.Ser1077Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ser1081Pro Single submitter Inborn genetic diseases ⚠
- p.Ser1085Thr Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ser1101Leu Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Ser383Thr Single submitter
- p.Thr1103Ile Single submitter ⚠
- p.Thr1103Pro Single submitter ⚠
- p.Thr1173Ala Single submitter ⚠
- p.Thr1202fs Single submitter
- p.Thr665Ser Single submitter Inborn genetic diseases ⚠
- p.Thr853Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Thr857Ala Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Thr857Ser Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Thr926Ile Single submitter ⚠
- p.Trp904Arg Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Tyr1026His Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Tyr1187Cys Single submitter ⚠
- p.Tyr137del Single submitter Cornelia de Lange syndrome 3
- p.Tyr168Cys Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Tyr532Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr547Cys Single submitter Cornelia de Lange syndrome ⚠
- p.Tyr600Cys Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Tyr668Cys Single submitter ⚠
- p.Tyr669Asn Single submitter ⚠
- p.Val1043Ile Single submitter Inborn genetic diseases ⚠
- p.Val162Ala Single submitter ⚠
- p.Val274Gly Single submitter ⚠
- p.Val444Ile Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Val458Ala Single submitter
- p.Val550Leu Single submitter ⚠
- p.Val595Ile Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Val843Ala Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Val858Ala Single submitter Cornelia de Lange syndrome 3 ⚠
- p.Cys549Trp No assertion criteria SMC3-related disorder ⚠
- p.Ser766Gly No assertion criteria Cornelia de Lange syndrome 3