| | | Single nucleotide variant (splice acceptor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | GALNS-related condition | |
| | | Single nucleotide variant (synonymous variant) | GALNS-related condition | |
| | | Deletion (intron variant +1 more) | GALNS-related condition | |
| | | Copy number loss | not provided | |
| | | Deletion (intron variant +3 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Insertion (splice acceptor variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Deletion (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Microsatellite (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (splice donor variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Microsatellite (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (nonsense) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (missense variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | GALNS, LOC130059762 +1 more | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (synonymous variant) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Deletion (inframe_deletion +2 more) | Mucopolysaccharidosis, MPS-IV-A | |
| | | Single nucleotide variant (intron variant) | Mucopolysaccharidosis, MPS-IV-A | |