List of variants studied for chromosomal disorder by Génétique des Maladies du Développement, Hospices Civils de Lyon

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

Total variants: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs)	rs1557135315
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001172509.2(SATB2):c.597+1G>A	rs1559016679
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
NM_001378120.1(MBD5):c.3828dup (p.Asn1277fs)	rs2105124073
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)	rs1202957297
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
NM_006940.6(SOX5):c.1711C>T (p.Arg571Trp)	rs1565669640
NM_006940.6(SOX5):c.433dup (p.Thr145fs)	rs2136046122
NM_016628.5(WAC):c.405G>A (p.Trp135Ter)	rs1839996657
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer)	rs1562206791
NM_022455.5(NSD1):c.4378+1G>A	rs587784115

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.