List of variants in gene EXT1 reported as likely pathogenic for Multiple congenital exostosis

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: 22

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000127.3(EXT1):c.452C>A (p.Ala151Glu)	rs1385688129	0.00001
NC_000008.10:g.(?_118831895)_(118834856_?)del
NM_000127.3(EXT1):c.1021A>T (p.Arg341Trp)	rs1554580149
NM_000127.3(EXT1):c.1038A>C (p.Arg346Ser)
NM_000127.3(EXT1):c.1057-3C>G
NM_000127.3(EXT1):c.1064_1065delinsAT (p.Cys355Tyr)
NM_000127.3(EXT1):c.1070C>G (p.Pro357Arg)	rs1131691337
NM_000127.3(EXT1):c.1165-2A>G
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)	rs1563571296
NM_000127.3(EXT1):c.1417+2dup
NM_000127.3(EXT1):c.1880A>G (p.His627Arg)
NM_000127.3(EXT1):c.444del (p.Ser149fs)	rs1182900059
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)	rs1817879832
NM_000127.3(EXT1):c.568_570del (p.His190del)	rs1817877188
NM_000127.3(EXT1):c.572T>C (p.Leu191Ser)	rs1563659467
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)	rs1817876107
NM_000127.3(EXT1):c.608A>G (p.Tyr203Cys)
NM_000127.3(EXT1):c.624del (p.Phe209fs)	rs2130042609
NM_000127.3(EXT1):c.659G>A (p.Ser220Asn)
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)	rs1817893036
NM_000127.3(EXT1):c.934T>C (p.Cys312Arg)	rs1817867776
NM_000127.3(EXT1):c.936T>A (p.Cys312Ter)	rs2130041053

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.