ID
Phenotype by ultrasound
Reference sequence
Sequencing results by clinical WES
Genetic subregion
Heterogeneity
Chromosomal Loci
Mutation type
Variant type(ACMG evidence levels)
Sanger verification
Sanger verification
Paternal Maternal
7 HL<-5.9SD,FL<-5.9SD;metaphyseal enlargement NM_000142.4 FGFR3:c.1138G>A(p.G380R) Exon9 Het chr4:1806119-1806119 Pathogenic PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 Wild Wild
14 BPD>+2.0SD,FL<-4.0SD,HL<-4.0SD NM_000142.4 FGFR3:c.1138G>A(p.G380R) Exon9 Het chr4:1806119-1806119 Pathogenic PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 Wild Wild
19 BPD>+2.0SD,FL<-4.0SD,HL<-4.0SD NM_000142.4 FGFR3:c.1620C>A(p.N540K) Exon12 Het chr4:1807371-1807371 Pathogenic PS1+PS2+PM1+PM2+ PP3 Wild Wild
23 Fetal limbs are short NM_000142.4 FGFR3:c.1138G>A(p.G380R) Exon9 Het chr4:1806119-1806119 Pathogenic PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 Wild Wild
30 FL<-6.0SD NM_000142.4 FGFR3:c.1138G>A(p.G380R) Exon9 Het chr4:1806119-1806119 Pathogenic PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 Wild Wild
72 FL<-4.0SD,HL<-2.0SD NM_000142.4 FGFR3:c.1138G>A(p.G380R) Exon9 Het chr4:1806119-1806119 Pathogenic PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 Wild Wild
79 HC>+2.4SD,AC<-0.34SD,FL<-4.2SD NM_000142.4 FGFR3:c.1138G>A(p.G380R) Exon9 Het chr4:1806119-1806119 Pathogenic PS2_VeryStrong+PS1+PS3+PS4+PP1_Strong+PM2+PP4 Wild Wild