| | | Deletion (frameshift variant) | Creatine transporter deficiency | |
| | | Deletion (frameshift variant) | Creatine transporter deficiency | |
| | | Duplication (frameshift variant) | Creatine transporter deficiency | |
| | | Deletion (frameshift variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (nonsense) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Microsatellite | Creatine transporter deficiency | |
| | | Single nucleotide variant (splice donor variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Creatine transporter deficiency | |
| | | Deletion (frameshift variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Duplication (frameshift variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (nonsense) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Creatine transporter deficiency | |
| | | Deletion (frameshift variant) | Creatine transporter deficiency | |
| | | Deletion (frameshift variant) | Creatine transporter deficiency | |
| | | Deletion (frameshift variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (nonsense) | Creatine transporter deficiency | |
| | | Deletion (frameshift variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (nonsense) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (nonsense) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Inversion (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Deletion (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Duplication (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Duplication (intron variant) | Creatine transporter deficiency | |
| | | Microsatellite (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (intron variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (missense variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |
| | | Single nucleotide variant (synonymous variant) | Creatine transporter deficiency | |