| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| GAMT | 601240 | 612736 | 19p13.3 | c.233T>A | | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | 2 |
| GAMT | 601240 | 612736 | 19p13.3 | c.299_c.311 dup13 | | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | 2 |
| GAMT | 601240 | 612736 | 19p13.3 | c.327G>A (p.K109K, splice site mutation) | 0001 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | 2 |
| GAMT | 601240 | 612736 | 19p13.3 | c.424_426delGAG (p.E142del) | | | 1 |
| GAMT | 601240 | 612736 | 19p13.3 | c.522G>A (P.W174X) | 0007 | CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2 | 2 |