List of variants studied for chromosomal disorder by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 17

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)	rs267608399
NM_001145358.2(SIN3A):c.349C>T (p.Gln117Ter)	rs2141540759
NM_001372044.2(SHANK3):c.1255G>T (p.Val419Leu)	rs1057519406
NM_001372044.2(SHANK3):c.3867dup (p.Thr1290fs)	rs2083287955
NM_001372044.2(SHANK3):c.4254_4255del (p.Ser1418fs)	rs1057519395
NM_001372044.2(SHANK3):c.5107C>A (p.Arg1703Ser)	rs2083360139
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)	rs587784077
NM_022455.5(NSD1):c.3271dup (p.Leu1091fs)	rs1763353656
NM_022455.5(NSD1):c.3548_3549insG (p.Ser1183_Glu1184insTer)	rs878855075
NM_022455.5(NSD1):c.5758T>C (p.Cys1920Arg)	rs1554204122
NM_022455.5(NSD1):c.6651G>T (p.Glu2217Asp)	rs1760069281
NM_078480.3(PUF60):c.284_285del (p.Leu95fs)	rs1817027997
NM_078480.3(PUF60):c.389G>C (p.Arg130Pro)	rs1554643584
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)	rs1131692232
NM_078480.3(PUF60):c.612_630del (p.Asn207fs)	rs1816565452
NM_078480.3(PUF60):c.712_713del (p.Ser238fs)	rs1816555365
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs)	rs1816551992

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.