List of variants reported as pathogenic for craniosynostosis by Baylor Genetics

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)	rs121908171	0.00037
NM_020779.4(WDR35):c.1889T>G (p.Leu630Ter)	rs199952377	0.00019
NM_020779.4(WDR35):c.3345G>A (p.Leu1115=)	rs746128772	0.00002
NM_001271938.2(MEGF8):c.1788+1G>C	rs1206116606	0.00001
NM_004260.4(RECQL4):c.1078C>T (p.Gln360Ter)	rs375236875	0.00001
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)	rs121918491
NM_000141.5(FGFR2):c.758C>G (p.Pro253Arg)	rs77543610
NM_000141.5(FGFR2):c.870G>T (p.Trp290Cys)	rs121918499
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)	rs28931615
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)	rs121913116
NM_003036.4(SKI):c.101G>T (p.Gly34Val)	rs387907305
NM_003036.4(SKI):c.103C>T (p.Pro35Ser)	rs397514590
NM_006766.5(KAT6A):c.2463del (p.Asn821fs)	rs1661324893
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter)	rs1064793721
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	rs765513105
NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter)	rs758543580

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.