ClinVar Miner

List of variants reported as likely pathogenic for Cornelia de Lange syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP
NM_005445.3(SMC3):c.1964G>A (p.Gly655Asp) rs587784425
NM_005445.3(SMC3):c.2005T>G (p.Tyr669Asp) rs776056911
NM_005445.3(SMC3):c.2338G>C (p.Glu780Gln) rs587784427
NM_005445.3(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.3(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005445.3(SMC3):c.707G>C (p.Arg236Pro) rs587784429
NM_005445.3(SMC3):c.859_861dup (p.Glu287_Lys288insGlu) rs797045997
NM_006306.3(SMC1A):c.1142_1144del (p.Glu381del) rs797045991
NM_006306.3(SMC1A):c.1267C>A (p.Gln423Lys) rs587784404
NM_006306.3(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.3(SMC1A):c.1754T>C (p.Leu585Pro) rs587784406
NM_006306.3(SMC1A):c.1877G>A (p.Arg626His) rs587784407
NM_006306.3(SMC1A):c.2046_2048del (p.Glu684del) rs797045992
NM_006306.3(SMC1A):c.2078G>A (p.Arg693Gln) rs587784408
NM_006306.3(SMC1A):c.2327T>A (p.Val776Glu) rs587784410
NM_006306.3(SMC1A):c.3070A>T (p.Asn1024Tyr) rs587784415
NM_006306.3(SMC1A):c.3146G>A (p.Arg1049Gln) rs587784416
NM_006306.3(SMC1A):c.3557T>C (p.Val1186Ala) rs587784419
NM_006306.3(SMC1A):c.421G>A (p.Glu141Lys) rs587784420
NM_018486.2(HDAC8):c.556G>A (p.Glu186Lys) rs797045612
NM_018486.2(HDAC8):c.770C>A (p.Pro257His) rs797045613
NM_133433.3(NIPBL):c.1477A>G (p.Lys493Glu) rs587783887
NM_133433.3(NIPBL):c.1496-8A>G rs797045747
NM_133433.3(NIPBL):c.201_212del (p.His67_Asn70del) rs587783893
NM_133433.3(NIPBL):c.206T>C (p.Leu69Pro) rs587783895
NM_133433.3(NIPBL):c.3122-2A>G rs587783918
NM_133433.3(NIPBL):c.3137C>A (p.Ser1046Ter) rs1554019663
NM_133433.3(NIPBL):c.3304+5G>A rs80358356
NM_133433.3(NIPBL):c.3440G>A (p.Arg1147Gln) rs587783921
NM_133433.3(NIPBL):c.345A>G (p.Arg115=) rs587783922
NM_133433.3(NIPBL):c.358+5G>C rs587783928
NM_133433.3(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del) rs587783931
NM_133433.3(NIPBL):c.3818T>G (p.Ile1273Ser) rs587783932
NM_133433.3(NIPBL):c.3855+5G>A rs80358378
NM_133433.3(NIPBL):c.3856-7_3856-5del rs797045757
NM_133433.3(NIPBL):c.4320+2dup rs797045758
NM_133433.3(NIPBL):c.4421G>C (p.Arg1474Thr) rs587783947
NM_133433.3(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.3(NIPBL):c.5327A>T (p.Gln1776Leu) rs587783966
NM_133433.3(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.3(NIPBL):c.5456G>A (p.Arg1819Gln) rs80358366
NM_133433.3(NIPBL):c.5465A>G (p.Asp1822Gly) rs587783977
NM_133433.3(NIPBL):c.5566A>G (p.Arg1856Gly) rs80358373
NM_133433.3(NIPBL):c.5732A>C (p.Gln1911Pro) rs587783982
NM_133433.3(NIPBL):c.5923G>T (p.Val1975Phe) rs587783986
NM_133433.3(NIPBL):c.5924_5926del (p.Val1975del) rs587783987
NM_133433.3(NIPBL):c.6158T>C (p.Leu2053Pro) rs587783997
NM_133433.3(NIPBL):c.6170T>C (p.Leu2057Pro) rs587783998
NM_133433.3(NIPBL):c.6242G>T (p.Gly2081Val) rs587784000
NM_133433.3(NIPBL):c.6250G>T (p.Val2084Leu) rs587784002
NM_133433.3(NIPBL):c.6266T>G (p.Val2089Gly) rs587784003
NM_133433.3(NIPBL):c.6316G>C (p.Val2106Leu) rs587784004
NM_133433.3(NIPBL):c.6343G>A (p.Gly2115Ser) rs587784007
NM_133433.3(NIPBL):c.6362_6364del (p.Lys2121del) rs587784008
NM_133433.3(NIPBL):c.64+5G>A rs587784011
NM_133433.3(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690
NM_133433.3(NIPBL):c.65-5A>G rs587784012
NM_133433.3(NIPBL):c.6632_6634del (p.Glu2211del) rs587784019
NM_133433.3(NIPBL):c.6800T>G (p.Met2267Arg) rs797045779
NM_133433.3(NIPBL):c.6935G>T (p.Gly2312Val) rs587784025
NM_133433.3(NIPBL):c.7012G>C (p.Ala2338Pro) rs587784030
NM_133433.3(NIPBL):c.7141G>A (p.Gly2381Ser) rs587784035
NM_133433.3(NIPBL):c.7301A>G (p.Asn2434Ser) rs80358384
NM_133433.3(NIPBL):c.7306G>A (p.Ala2436Thr) rs587784039
NM_133433.3(NIPBL):c.7336_7338del (p.Pro2446del) rs587784040
NM_133433.3(NIPBL):c.8173G>C (p.Ala2725Pro) rs587784053
NM_133433.3(NIPBL):c.8296_8300delATTAAinsTT (p.Ile2766_Lys2767delinsLeu) rs797045788

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