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 |