Table 2.

Selected FZD4 Pathogenic Variants

DNA Nucleotide ChangePredicted Protein ChangeReference Sequences
c.1250G>A 1p.Arg417Gln NM_012193​.3
NP_036325​.2
c.205C>T 2p.His69Tyr
c.1463G>Ap.Gly488Asp
c.1501_1502delCTp.Leu501SerfsTer533

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).

1.

Associated with a more severe phenotype when in cis with LRP5 c.1330C>T pathogenic variant (see Genotype-Phenotype Correlations, Possible complex inheritance of FEVR).

2.

Associated with a more severe ocular phenotype when in trans with the c.1463G>A pathogenic variant (see Genotype-Phenotype Correlations, Possible complex inheritance of FEVR).

From: Familial Exudative Vitreoretinopathy, Autosomal Dominant – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY

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