| | | Deletion (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (nonsense +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice donor variant) | Aspartylglucosaminuria | |
| | | Deletion (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice donor variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant +1 more) | Aspartylglucosaminuria | |
| | LOC130060550, SLC46A1 (M1I) | Single nucleotide variant (missense variant +1 more) | Cobalamin C disease +1 more | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Deletion (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Deletion (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Deletion (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (missense variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Duplication (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice acceptor variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Duplication (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (intron variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (synonymous variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice acceptor variant) | Aspartylglucosaminuria | |
| | | Microsatellite (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Duplication (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Microsatellite (frameshift variant +1 more) | Aspartylglucosaminuria | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Aspartylglucosaminuria | |
| | | Microsatellite (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Deletion (frameshift variant +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (nonsense +1 more) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice acceptor variant) | Aspartylglucosaminuria | |
| | | Single nucleotide variant (splice acceptor variant) | Aspartylglucosaminuria | |