List of variants reported as likely pathogenic for syndromic craniosynostosis by Department of Medical Genetics, Oslo University Hospital

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

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001142784.3(IL11RA):c.781C>T (p.Arg261Cys)	rs201638429	0.00005
NM_052989.3(IFT122):c.965C>T (p.Ser322Phe)	rs267607192	0.00003
NM_001142784.3(IL11RA):c.281G>T (p.Cys94Phe)	rs369630361	0.00002
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys)	rs121913478
NM_000141.5(FGFR2):c.824_829dup (p.Phe276_Val277insGluPhe)	rs1850299732
NM_000474.4(TWIST1):c.171del (p.Gly59fs)	rs1788590614
NM_000474.4(TWIST1):c.329G>C (p.Arg110Pro)	rs1085307555
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup)	rs748476974
NM_000474.4(TWIST1):c.475C>G (p.Leu159Val)	rs1563159945
NM_207037.2(TCF12):c.778_779del (p.Met260fs)	rs2059175292

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.