"Service de Biochimie Médicale et Biologie Moléculaire, CHU Clermont-F - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 830046	NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs)	EXT1 (N651fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 804166	NM_000127.3(EXT1):c.1773del (p.Tyr592fs)	EXT1 (Y592fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GPathogenic
Select item 972704	NM_000127.3(EXT1):c.1633-1G>A	EXT1	Single nucleotide variant (splice acceptor variant)	Multiple congenital exostosis	GPathogenic
Select item 870448	NM_000127.3(EXT1):c.1285-1G>C	EXT1	Single nucleotide variant (splice acceptor variant)	Multiple congenital exostosis	GPathogenic
Select item 1334150	NM_000127.3(EXT1):c.624del (p.Phe209fs)	EXT1 (F209fs)	Deletion (frameshift variant)	Multiple congenital exostosis	GLikely pathogenic
Select item 950898	NM_000127.3(EXT1):c.568_570del (p.His190del)	EXT1 (H190del)	Deletion (inframe_deletion)	Multiple congenital exostosis	GConflicting classifications of pathogenicity
Select item 1333161	NM_000127.3(EXT1):c.392dup (p.Tyr131Ter)	EXT1 (Y131*)	Duplication (nonsense)	Multiple congenital exostosis	GPathogenic

ClinVar