Table 7.

Pathogenic Variants Referenced in This GeneReview by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment
COMP NM_000095​.3
NP_000086​.2 		c.2152C>Tp.Arg718TrpSee Genotype-Phenotype Correlations.
MATN3 NM_002381​.5
NP_002372​.1 		c.361C>Tp.Arg121TrpSee Phenotype Correlations by Gene.

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 are in alphabetic order.

From: Multiple Epiphyseal Dysplasia, Autosomal Dominant

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