Table 1 The diseases that are associated with the pathogenic variants found within our samples
Disease | Variants | Pathogenic |
|---|---|---|
Pseudoxanthoma elasticum | 5 | 5 |
Bardet-biedl syndrome 2/6, digenic | 1 | 1 |
Cancer progression and tumor cell motility | 1 | 1 |
Deafness, autosomal recessive 9 | 1 | 1 |
Diamond-Blackfan anemia_4 | 1 | 1 |
Encephalopathy,_progressive,_early-onset,_with brain edema_and/or_leukoencephalopathy | 1 | 1 |
Familial hypercholesterolemia | 1 | 1 |
Lynch syndrome | 1 | 1 |
Polyagglutinable erythrocyte syndrome | 1 | 1 |
Preeclampsia/eclampsia 4 | 1 | 1 |
Prekallikrein deficiency | 1 | 1 |
Sandhoff disease,_infantile type | 1 | 1 |
Serum amyloid a variant | 1 | 1 |
Spastic paraplegia 75, autosomal recessive | 1 | 1 |
Spongy degeneration of central nervous system | 1 | 1 |
Structural heart defects and renal anomalies syndrome | 1 | 1 |
Thyroxine-binding globulin, variant P | 1 | 1 |