Genotype-Phenotype Characterization of Novel Variants in Six Italian Patients with Familial Exudative Vitreoretinopathy

Table 1

Features of genetic variations found in FEVR families.

Family ID; Gene	Genotype	Nucleotide change	Amino acid change	SIFT	Polyphen	Mutation taster	Classification	References
Fam. 1; FZD4; NM_012193	Het	c.277C>T	p.(Gln93*)	—	—	—	Pathogenic	Novel variant
Fam. 2; FZD4; NM_012193	Het	c.542G>A	p.(Cys181Tyr)	T	PrD	DC	Pathogenic	[31]
Fam. 3; FZD4; NM_012193	Het	c.611G>T	p.(Cys204Phe)	D	PrD	DC	Likely pathogenic	Novel variant
Fam. 4; NDP; NM_000266	Hemi	c.362G>A	p.(Arg121Gln)	D	PrD	DC	Pathogenic	[25]
Fam. 5; NDP; NM_000266	Hemi	c.313G>C	p.(Ala105Phe)	D	PrD	DC	Likely pathogenic	Novel variant
Fam. 6; TSPAN12; NM_012338	Het	c.67-2A>G	Defective splicing	—	—	—	Likely pathogenic	Novel variant