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Table 2 Information regarding variants in NDP, FZD4, LRP5, and TSPAN12 genes of probands

From: Whole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy

ID WES CNV MGS Gene Transcript Nucleotide change Amino acid change Variant type Exon State ACMG Reference (PMID)
1 + + + NDP NM_000266 c.118A>G p.(Met40Val) missense E2 Hem UVS 30768221
2 + + + FZD4 NM_012193 c.757C>T p.(Arg253Cys) missense E2 Het LP 30452590
3 + + + FZD4 NM_012193 c.981G>A p.(Trp327Ter) nonsense E2 Het LP 30452590
4 + FZD4 NM_012193 c.1039T>G p.(Phe347Val) missense E2 Het UVS Novel
5 + + + LRP5 NM_002335 c.685C>T p.(Arg229Trp) missense E3 Het LP 31589614
6 + LRP5 NM_002335 c.1210G>A p.(Gly404Arg) missense E6 Het LP 16252235
6 + LRP5 NM_002335 c.1612C>T p.(Arg538Trp) missense E8 Het LP Novel
7 + LRP5 NM_002335 c.3232C>T p.(Arg1078Ter) nonsense E14 Het LP 20340138
8 + + + LRP5 NM_002335 c.3237-2A>C splice I14 Het P Novel
9 + + + LRP5 NM_002335 c.4084A>G p.(Ile1362Val) missense E19 Het UVS 30097784
10 + + + TSPAN12 NM_012338 c.77T>A p.(Ile26Asn) missense E3 Het UVS Novel
11 + TSPAN12 NM_012338 c.170dupT p.(Leu57Phe fsTer60) nonsense E4 Het LP Novel
12 + TSPAN12 NM_012338 c.236T>G p.(Met79Arg) missense E4 Het LP Novel
13 + + + TSPAN12 NM_012338 c.550dupA p.(Arg184Lys fsTer16) nonsense E7 Het LP Novel
  1. Het, heterozygous; Hem, hemizygote; P, pathogenic; LP, likely pathogenic; UVS, uncertain significance; E, Exon; I, Intron; ACMG, American College of Medical Genetics; MGS, mitochondrial genome sequencing; WES, whole exome sequencing; CNV, copy number variant