| PatientID | Diagnosis | AgeOfDiagnosis | TrivialName | SystematicName | TrivialName2 | SystematicName2 |
| 991 | HOMOCYSTINURIA (MIM 236200) | 6.79 Year(s) | IVS7-88G>A | c.828ins86 | | |
| 949 | HOMOCYSTINURIA (MIM 236200) | 7 Year(s) | S454L | c.1361C>T | S454L | c.1361C>T |
| 947 | HOMOCYSTINURIA (MIM 236200) | 9 Year(s) | S454L | c.1361C>T | S454L | c.1361C>T |
| 945 | HOMOCYSTINURIA (MIM 236200) | 11 Year(s) | L338P | c.1013T>C | L338P | c.1013T>C |
| 404 | HOMOCYSTINURIA (MIM 236200) | 18.58 Year(s) | | | | |
| 383 | HOMOCYSTINURIA (MIM 236200) | 5 Day(s) | | | | |
| 201 | HOMOCYSTINURIA (MIM 236200) | 3.82 Year(s) | D376N | c.1126G>A | | c.IVS 7+1 G>A |
| 156 | HOMOCYSTINURIA (MIM 236200) | 10.85 Year(s) | H65R | c.194 A>G | V168M | c.502 G>A |
