NM_000127.3(EXT1):c.1817G>A (p.Trp606Ter)Pathogenic
Multiple congenital exostosis|not provided|Exostoses, multiple, type 1
★★☆☆2026→ Residue 606
NM_000127.3(EXT1):c.279C>G (p.Tyr93Ter)Pathogenic
Multiple congenital exostosis|Exostoses, multiple, type 1
★★☆☆2026→ Residue 93
NM_000127.3(EXT1):c.1019G>A (p.Arg340His)Pathogenic
not provided|Multiple congenital exostosis|Exostoses, multiple, type 1|EXT1-related disorder
★★☆☆2026→ Residue 340
NM_000127.3(EXT1):c.608A>G (p.Tyr203Cys)Pathogenic
Multiple congenital exostosis
★★☆☆2026→ Residue 203
NM_000127.3(EXT1):c.1468dup (p.Leu490fs)Pathogenic
not provided|Multiple congenital exostosis|Chondrosarcoma;Exostoses, multiple, type 1|Exostoses, multiple, type 1
★★☆☆2026→ Residue 490
NM_000127.3(EXT1):c.2101C>T (p.Arg701Ter)Pathogenic
not provided|Multiple congenital exostosis|Exostoses, multiple, type 1|EXT1-related disorder
★★☆☆2026→ Residue 701
NM_000127.3(EXT1):c.962+1G>TPathogenic
not provided|Multiple congenital exostosis
★★☆☆2026
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs)Pathogenic
not provided|Multiple congenital exostosis
★★☆☆2025→ Residue 405
NM_000127.3(EXT1):c.1469del (p.Leu490fs)Pathogenic
not provided|Multiple congenital exostosis|Exostoses, multiple, type 1|Chondrosarcoma
★★☆☆2025→ Residue 490
NM_000127.3(EXT1):c.250C>T (p.Gln84Ter)Pathogenic
not provided|Multiple congenital exostosis
★★☆☆2025→ Residue 84
NM_000127.3(EXT1):c.356_357del (p.Tyr119fs)Pathogenic
Multiple congenital exostosis|Chondrosarcoma
★★☆☆2025→ Residue 119
NM_000127.3(EXT1):c.1431del (p.Ser478fs)Pathogenic
Multiple congenital exostosis|not provided
★★☆☆2025→ Residue 478
NM_000127.3(EXT1):c.1633-2A>GPathogenic
Multiple congenital exostosis|not provided
★★☆☆2025
NM_000127.3(EXT1):c.962+1G>APathogenic
Multiple congenital exostosis|Exostoses, multiple, type 1
★★☆☆2025
NM_000127.3(EXT1):c.1167del (p.Pro390fs)Pathogenic
Multiple congenital exostosis|Exostoses, multiple, type 1
★★☆☆2025→ Residue 390
NM_000127.3(EXT1):c.1027G>C (p.Gly343Arg)Pathogenic
Exostoses, multiple, type 1|Multiple congenital exostosis
★★☆☆2025→ Residue 343
NM_000127.3(EXT1):c.747del (p.Phe250_Leu251insTer)Pathogenic
Multiple congenital exostosis|Exostoses, multiple, type 1
★★☆☆2025→ Residue 250
NM_000127.3(EXT1):c.70G>T (p.Gly24Ter)Pathogenic
not provided|Multiple congenital exostosis|Exostoses, multiple, type 1
★★☆☆2025→ Residue 24
NM_000127.3(EXT1):c.852T>A (p.Tyr284Ter)Pathogenic
Multiple congenital exostosis|not provided
★★☆☆2025→ Residue 284
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter)Pathogenic
not provided|Multiple congenital exostosis
★★☆☆2025→ Residue 582