Family 1 |
fetal death |
chr3:63912887:C:A |
Autosomal Dominant |
Missense |
ATXN7 |
Spinocerebellar ataxia 7 |
|
fetal death |
chr3:63912887:C:A |
|
|
|
|
|
fetal death |
chr19:17314331:C:A |
Autosomal Dominant |
Splice region |
DDA1 |
- |
|
stillbirth |
chr14:95129520:ATTTTCTCTAGTTTCTGAATC:A |
de novo |
Frameshift |
DICER1 |
Embryonal; Global developmental
delay |
|
stillbirth |
chr10:419184:G:A |
Autosomal Dominant |
Missense |
DIP2C |
- |
|
fetal death |
|
|
|
|
|
|
fetal death |
|
|
|
|
|
|
fetal death |
chr9:83970202:G:A |
de novo |
Stop gained |
HNRNPK |
Au-Kline Syndrome |
|
fetal death |
chr10:17840773:C:T |
Autosomal Dominant |
Missense |
MRC1 |
Gaucher’s Disease |
|
stillbirth |
chr3:88139246:C:T |
de novo |
Missense |
ZNF654 |
- |
Family 4 |
fetal death |
chrX:108591181:C:A |
X-linked recessive |
Missense |
COL4A5 |
Alport syndrome 1 |
|
fetal death |
chr11:117458790:G:A |
Autosomal Dominant |
Missense |
DSCAML1 |
Down Syndrome |
|
fetal death |
chr5:128335211:TAGCAGAGGCAGCGATACTCTCCAGGAATGTTGGTACACTGGCCGCCATCAC:T |
de novo |
In-frame Deletion |
FBN2 |
Congenital
contractual arachnodactyly |
|
fetal death |
chr8:41977214:C:T |
de novo |
Missense |
KAT6A |
Mental retardation, autosomal dominant 32 |
|
fetal death |
chr9:33062105:CTGCCTTGCCTCGAAACAAATCTATGGTCATACCAGGAGGAAGCAATCCCTGATGCTGCTGCCACTTCAG:C |
de novo |
In-frame Deletion |
SMU1 |
- |
Family 3 |
Embryonic loss |
chr7:140739949:GGA:G |
de novo |
Splice region |
BRAF |
Noonan syndrome 7 |
|
stillbirth |
chr6:36200959:G:A |
de novo |
Missense |
BRPF3 |
- |
|
Embryonic loss |
chr17:47171999:C:T |
de novo |
Missense |
CDC27 |
- |
|
fetal death |
chr5:180603262:G:A |
Autosomal Dominant |
Missense |
FLT4 |
Congenital heart defects |
|
Embryonic loss |
chr15:63774800:G:T |
de novo |
Stop gained |
HERC1 |
Macrocephaly |
|
Embryonic loss |
chr15:63774801:A:C |
de novo |
Missense |
|
|
|
Embryonic loss |
chr15:63774805:C:CT |
de novo |
Frameshift |
|
|
|
Embryonic loss |
chr5:150134013:TAG:T |
de novo |
Splice region |
PDGFRB |
Kosaki overgrowth syndrome |
|
Embryonic loss |
chr15:43766828:TTGGAGAGCACTGC:T |
de novo |
Frameshift |
PDIA3 |
Prion Disease |
|
Embryonic loss |
chr8:140668348:G:A |
de novo |
Missense |
PTK2 |
Malignant Astrocytoma; Ovarian Cancer |
|
Embryonic loss |
chr9:127069303:G:A |
de novo |
Missense |
RALGPS1 |
Developmental And Epileptic Encephalopathy 4; Uterine
Carcinosarcoma |
|
stillbirth |
chr2:11249767:G:A |
de novo |
Missense |
ROCK2 |
Ureteral Obstruction |
|
Embryonic loss |
chr12:27309142:G:A |
de novo |
Missense |
STK38L |
Macular Degeneration |
|
stillbirth |
chr6:147316370:TC:T |
de novo |
Frameshift |
STXBP5 |
Von Willebrand Disease |
|
stillbirth |
chr17:29507963:G:A |
de novo |
Missense |
TAOK1 |
Developmental Delay With Or Without Intellectual
Impairment |
|
fetal death |
chr2:169994355:A:AG |
de novo |
Frameshift |
UBR3 |
- |
|
stillbirth |
chr2:61227175:TCTTCTTCTTCCC:T |
de novo |
In-frame Deletion |
USP34 |
- |