Case | Ultrasound findings | Additional anomalies | Gene | Nucleotide change | Amino acid change | Zygosity | Clinical classify | Inherited mode | Disease |
---|---|---|---|---|---|---|---|---|---|
#133 | RAA | – | GLI3 | c.2308delG | p.A770fs | Het | LP | AD | Pallister-Hall syndrome |
#79 | AVSD | – | SCN5A | c.4357C > T | p.Q1453X | Het | LP | AD | Brugada syndrome 1 |
#25 | VSD | Urinary tract system,Skeletal system | NIPBL | c.5220delA | p.T1740fs | Het | P | AD | Cornelia de Lange syndrome 1 |
#159 | IAA, AVSD | – | FOXF1 | c.853_854delAT | p.Ile285fs | Het | P | AD | Persistent fetal circulation syndrome |
#170 | VSD | – | SCN5A | c.362G > A | p.Arg121Gln | Het | P | AD | Brugada syndrome 1 |
#166 | PA | – | GATA6 | c.551G > A | p.Ser184Asn | Het | LP | AD | Atrial septal defect 9 |
#62 | VSD,d-TGA,TA | – | MYH7 | c.4076G > A | p.R1359H | Het | VUS | AD | – |
#19 | VSD,CA | – | CITED2 | c.589A > G | p.S197G | Het | VUS | AD | – |
#132 | VSD | Mild ventriculomegaly | NOTCH1 | c.7171C > T | p.Q2391X | Het | VUS | AD | – |
#161 | AS | – | NOTCH1 | c.5339_5346dupAGAAGAAG | p.Glu1785fs | Het | VUS | AD | – |
#168 | VSD | – | COL9A3 | c.622G > A | p.Gly208Ser | Het | VUS | AD | – |
#171 | TOF | – | PRNP | c.622C > T | p.Arg208Cys | Het | VUS | AD | – |
#192 | VSD | – | HDAC | c.1 + 1G > A | Het | VUS | AD | – | |
#194 | Heterotaxy | Cystic hygroma | DNAH9 | c.1997G > T | p.Trp666Leu | Het | VUS | AD | – |
#200 | Heterotaxy | – | DNAH9 | c.14_34delAGGAGCGGGCCGCGC | p.Glu5_Ala11del | Het | VUS | AD | – |
#98 | TOF | – | CCD22 | c.664C > T | p.R222W | Het | VUS | AD | – |
#106 | VSD, CA | – | PRKD1 | c.2569G > C | p.E857Q | Het | VUS | AD | – |
Skeletal system, | MYH6 | c.4036C > T | p.R1346W | Het | VUS | AD | – | ||
– | COL5A1 | c.2768C > T | p.P923L | Het | VUS | AD | – | ||
#51 | HLHS | – | GLI3 | c.2587C > T | p.R863C | Het | VUS | AD | – |
#101 | VSD | Thickened nuchal fold | SOS2 | c.3812C > T | p.P1271L | Het | VUS | AD | – |