List of variants in gene NIPBL reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)	rs147054690	0.00015
NM_133433.4(NIPBL):c.1477A>G (p.Lys493Glu)	rs587783887
NM_133433.4(NIPBL):c.1496-8A>G	rs797045747
NM_133433.4(NIPBL):c.201_212del (p.His67_Asn70del)	rs587783893
NM_133433.4(NIPBL):c.206T>C (p.Leu69Pro)	rs587783895
NM_133433.4(NIPBL):c.3122-2A>G	rs587783918
NM_133433.4(NIPBL):c.3137C>A (p.Ser1046Ter)	rs1554019663
NM_133433.4(NIPBL):c.3304+5G>A	rs80358356
NM_133433.4(NIPBL):c.3440G>A (p.Arg1147Gln)	rs587783921
NM_133433.4(NIPBL):c.345A>G (p.Arg115=)	rs587783922
NM_133433.4(NIPBL):c.358+5G>C	rs587783928
NM_133433.4(NIPBL):c.3804_3818del (p.Leu1269_Ile1273del)	rs587783931
NM_133433.4(NIPBL):c.3818T>G (p.Ile1273Ser)	rs587783932
NM_133433.4(NIPBL):c.3855+5G>A	rs80358378
NM_133433.4(NIPBL):c.3856-7_3856-5del	rs797045757
NM_133433.4(NIPBL):c.4320+2dup	rs797045758
NM_133433.4(NIPBL):c.4421G>C (p.Arg1474Thr)	rs587783947
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg)	rs587783948
NM_133433.4(NIPBL):c.4810_4817dup (p.Arg1606_Val1607insLeuTer)	rs2149692104
NM_133433.4(NIPBL):c.5327A>T (p.Gln1776Leu)	rs587783966
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln)	rs80358380
NM_133433.4(NIPBL):c.5456G>A (p.Arg1819Gln)	rs80358366
NM_133433.4(NIPBL):c.5465A>G (p.Asp1822Gly)	rs587783977
NM_133433.4(NIPBL):c.5566A>G (p.Arg1856Gly)	rs80358373
NM_133433.4(NIPBL):c.5732A>C (p.Gln1911Pro)	rs587783982
NM_133433.4(NIPBL):c.5921TTG[1] (p.Val1975del)	rs587783987
NM_133433.4(NIPBL):c.5923G>T (p.Val1975Phe)	rs587783986
NM_133433.4(NIPBL):c.6158T>C (p.Leu2053Pro)	rs587783997
NM_133433.4(NIPBL):c.6170T>C (p.Leu2057Pro)	rs587783998
NM_133433.4(NIPBL):c.6242G>T (p.Gly2081Val)	rs587784000
NM_133433.4(NIPBL):c.6250G>T (p.Val2084Leu)	rs587784002
NM_133433.4(NIPBL):c.6266T>G (p.Val2089Gly)	rs587784003
NM_133433.4(NIPBL):c.6316G>C (p.Val2106Leu)	rs587784004
NM_133433.4(NIPBL):c.6343G>A (p.Gly2115Ser)	rs587784007
NM_133433.4(NIPBL):c.6362_6364del (p.Lys2121del)	rs587784008
NM_133433.4(NIPBL):c.64+5G>A	rs587784011
NM_133433.4(NIPBL):c.65-5A>G	rs587784012
NM_133433.4(NIPBL):c.6629AAG[1] (p.Glu2211del)	rs587784019
NM_133433.4(NIPBL):c.6760_6761del (p.Asp2254fs)	rs2149737142
NM_133433.4(NIPBL):c.6800T>G (p.Met2267Arg)	rs797045779
NM_133433.4(NIPBL):c.6935G>T (p.Gly2312Val)	rs587784025
NM_133433.4(NIPBL):c.7012G>C (p.Ala2338Pro)	rs587784030
NM_133433.4(NIPBL):c.7141G>A (p.Gly2381Ser)	rs587784035
NM_133433.4(NIPBL):c.7301A>G (p.Asn2434Ser)	rs80358384
NM_133433.4(NIPBL):c.7306G>A (p.Ala2436Thr)	rs587784039
NM_133433.4(NIPBL):c.7336_7338del (p.Pro2446del)	rs587784040
NM_133433.4(NIPBL):c.8173G>C (p.Ala2725Pro)	rs587784053
NM_133433.4(NIPBL):c.8296_8300delinsTT (p.Ile2766_Lys2767delinsLeu)	rs797045788

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