| | | Insertion (splice donor variant) | GNPTG-mucolipidosis | |
| | | Deletion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis | |
| | | Deletion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis | |
| | | Deletion (frameshift variant) | GNPTG-mucolipidosis | |
| | GNPTG, LOC130058158 (V30fs) | Indel (frameshift variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis | |
| | GNPTG, LOC130058158 (G13fs) | Indel (frameshift variant) | GNPTG-mucolipidosis | |
| | | Insertion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis | |
| | | Deletion (nonsense) | GNPTG-mucolipidosis +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GNPTG, LOC130058158 (E32K) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (intron variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (5 prime UTR variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (5 prime UTR variant) | GNPTG-mucolipidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Insertion (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | GNPTG-mucolipidosis | |
| | | Deletion (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (synonymous variant) | GNPTG-mucolipidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (synonymous variant) | GNPTG-mucolipidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | GNPTG-mucolipidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (3 prime UTR variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | GNPTG, LOC130058158 (L11P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | GNPTG, LOC130058158 (A20T) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |