Table 9.

Pathogenic Variants Referenced in This GeneReview by Gene

Gene 1Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
COL1A1 NM_000088​.4
NP_000079​.2 		c.934C>Tp.Arg312CysPathogenic variant identified in 35 persons from 12 families [Colman et al 2022]
COL5A1 NM_000093​.5
NP_000084​.3 		c.1588G>Ap.Gly530SerMay be disease modifying in the heterozygous state & disease causing in the homozygous state [Giunta & Steinmann 2000, Giunta et al 2002]

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: Classic Ehlers-Danlos Syndrome

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