ClinVar Miner

List of variants in gene NIPBL reported as uncertain significance for Cornelia de Lange syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
Download table as spreadsheet
HGVS dbSNP
NM_133433.3(NIPBL):c.3856-?_4239+?del
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349
NM_133433.4(NIPBL):c.1247C>G (p.Ala416Gly) rs894352601
NM_133433.4(NIPBL):c.1583C>T (p.Thr528Met) rs574981584
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890
NM_133433.4(NIPBL):c.2065A>T (p.Asn689Tyr) rs201482152
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374
NM_133433.4(NIPBL):c.230+5G>A
NM_133433.4(NIPBL):c.2471C>T (p.Ser824Leu) rs587783904
NM_133433.4(NIPBL):c.2505G>T (p.Gly835=) rs587783908
NM_133433.4(NIPBL):c.2584A>G (p.Lys862Glu) rs1554017428
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser) rs180747605
NM_133433.4(NIPBL):c.3068A>G (p.Lys1023Arg)
NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met) rs1561119475
NM_133433.4(NIPBL):c.3103C>G (p.Pro1035Ala) rs587783915
NM_133433.4(NIPBL):c.3109A>G (p.Lys1037Glu) rs587783916
NM_133433.4(NIPBL):c.332G>A (p.Ser111Asn) rs587783920
NM_133433.4(NIPBL):c.3369A>C (p.Arg1123Ser) rs140344071
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836
NM_133433.4(NIPBL):c.3493C>T (p.Leu1165Phe) rs540365485
NM_133433.4(NIPBL):c.3503-9T>G rs587783924
NM_133433.4(NIPBL):c.358+3G>C
NM_133433.4(NIPBL):c.3851A>G (p.Asn1284Ser) rs143152112
NM_133433.4(NIPBL):c.3856-12A>C rs199847583
NM_133433.4(NIPBL):c.3868G>A (p.Glu1290Lys) rs587783935
NM_133433.4(NIPBL):c.3868_3870GAA[3] (p.Glu1293del)
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354
NM_133433.4(NIPBL):c.3923C>A (p.Ala1308Glu)
NM_133433.4(NIPBL):c.4321-15A>G rs587783946
NM_133433.4(NIPBL):c.4422G>T (p.Arg1474Ser) rs80358358
NM_133433.4(NIPBL):c.4429A>C (p.Ser1477Arg) rs1554022448
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654
NM_133433.4(NIPBL):c.5330T>G (p.Ile1777Ser) rs587783970
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.5378T>G (p.Met1793Arg) rs483353060
NM_133433.4(NIPBL):c.5464G>T (p.Asp1822Tyr) rs587783976
NM_133433.4(NIPBL):c.5944A>C (p.Ile1982Leu) rs370593530
NM_133433.4(NIPBL):c.6033A>T (p.Leu2011Phe) rs1554030218
NM_133433.4(NIPBL):c.6037A>C (p.Ser2013Arg) rs587783989
NM_133433.4(NIPBL):c.6067C>A (p.His2023Asn) rs587783990
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.4(NIPBL):c.6071C>A (p.Ala2024Glu) rs587783992
NM_133433.4(NIPBL):c.6108+7A>G rs587783995
NM_133433.4(NIPBL):c.611-10T>C rs368836554
NM_133433.4(NIPBL):c.6182C>A (p.Pro2061Gln)
NM_133433.4(NIPBL):c.6182C>T (p.Pro2061Leu) rs587783999
NM_133433.4(NIPBL):c.6343+5G>A rs80358383
NM_133433.4(NIPBL):c.64+6T>A rs1554010766
NM_133433.4(NIPBL):c.6454C>T (p.Arg2152Trp)
NM_133433.4(NIPBL):c.6568A>G (p.Thr2190Ala) rs587784014
NM_133433.4(NIPBL):c.6589+9A>T rs370709104
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6697G>A (p.Val2233Met)
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.678G>A (p.Pro226=) rs192822119
NM_133433.4(NIPBL):c.6993A>G (p.Glu2331=) rs587784028
NM_133433.4(NIPBL):c.7024C>T (p.Leu2342Phe) rs587784031
NM_133433.4(NIPBL):c.7263+3A>G rs1554033589
NM_133433.4(NIPBL):c.7348_7350del (p.Met2450del) rs587784041
NM_133433.4(NIPBL):c.7487_7488inv (p.Glu2496Val) rs1554034831
NM_133433.4(NIPBL):c.7524_7529TTCAGA[3] (p.2508_2509DS[3]) rs587784044
NM_133433.4(NIPBL):c.7625G>A (p.Gly2542Asp) rs587784045
NM_133433.4(NIPBL):c.7641C>T (p.Leu2547=) rs587784046
NM_133433.4(NIPBL):c.894A>G (p.Gln298=) rs587784064

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.