Case Gene Variant Diseases and inheritance ACMG classification Origin
1 PKHD1 c.8301delC(p.Asn2768fs) Autosomal recessive polycystic kidney type 4 or without liver disease2 LP MAT
PKHD1 Exon 57-60 repeated PAT
2 JAG1 c.2078_2079delGT(p.Cys693fs) ALGS-1, tetralogy of fallot1 P MAT
4 GLA c.61C>G(p.Leu21Val) Fabry disease2 VUS MAT
NODAL c.548G>A(p.Arg183Gln) Visceral ectopic type 51 VUS MAT
5 DYNC2H1 c.557G>T(p.Gly186Val) Short-rib thoracic dysplasia type 3 with or without polydactyly2 VUS MAT
DYNC2H1 c.7643T>C(p.Phe2548Ser) LP PAT
7 DYNC2H1 c.8190G>T(p.Leu2730Phe) Short-rib thoracic dysplasia type 3 with or without polydactyly2 LP MAT
DYNC2H1 c.8621delC(p.Leu2876fs*15) LP PAT
9
GJB2
c.176_191del(p.G59fs)
High form ichthyosis with deafness1 Autosomal dominant deafness 3A1 Vohwinkel syndrome 1 Autosomal recessive deafness type 1A2 Palmoplantar skin keratosis with deafness1
P
PAT
10 F5 c.4964C>T(p.Ala1655Val) Coagulation factor V associated thrombotic disease1 Budd-Chiari syndrome2 Recurrent abortion is susceptible to type 11 VUS MAT