Table 7.

Hereditary Multiple Osteochondromas: Notable Pathogenic Variants by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeReference
EXT1 NM_000127​.3
NP_000118​.2 		c.1018C>Tp.Arg340CysJennes et al [2009], Fusco et al [2019]
c.1019G>Ap.Arg340His
c.1469delTp.Leu490ArgfsTer9 Jennes et al [2009]
See footnote 2.Jennes et al [2011], Szuhai et al [2011]
EXT2 NM_207122​.2
NP_997005​.1 		c.67C>Tp.Arg23Ter Jennes et al [2009]
c.679G>Ap.Asp227Asn
c.1225delGp.Ala409ProfsTer27 Santos et al [2018]
See footnote 2.Jennes et al [2011], Szuhai et al [2011]

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Genes from Table 1 in alphabetic order.

2.

Exon, multiexon, and whole-gene deletions

From: Hereditary Multiple Osteochondromas

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