Table 10.

Notable FBN2 Pathogenic Variants

Reference
Sequences		DNA
Nucleotide
Change		Predicted
Protein
Change		Comment [Reference]
NM_001999​.3 c.4346-2A>TSevere CCA in a proband w/this heterozygous variant whose mother had classic CCA w/mosaicism for the variant [Wang et al 1996]
c.2773G>Ap.Gly925ArgLocated outside the FBN1 homologous region but assoc w/severe phenotype [Meerschaut et al 2020]

Variants listed in the table have been provided by the author. 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.

From: Congenital Contractural Arachnodactyly

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