| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Lisch epithelial corneal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | MCOLN1-related condition | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Deletion (intron variant) | Mucolipidosis type IV | |
| | | Duplication (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Insertion (inframe_indel) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Deletion (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Duplication (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Duplication (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Deletion (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Deletion (frameshift variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (intron variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (splice acceptor variant) | Mucolipidosis type IV | |
| | | Single nucleotide variant (synonymous variant) | Mucolipidosis type IV | |