| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC112340388, LOC112441449 +821 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058535, LOC130058536 +916 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC125146383, LOC125146384 +556 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC105371046, LOC105371050 +842 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ARHGDIG, ATP6V0C +482 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130058149, LOC130058150 +925 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | MAPK8IP3, MAPK8IP3-AS1 +88 more | Copy number gain | See cases | |
| | GNPTG, LOC130058158 +1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant | GNPTG-mucolipidosis +1 more | |
| | | Single nucleotide variant | GNPTG-mucolipidosis | |
| | | Single nucleotide variant | GNPTG-mucolipidosis | |
| | | Single nucleotide 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 |
| | | Deletion | not provided | |
| | GNPTG, LOC130058158 (M1fs) | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | GNPTG-mucolipidosis | |
| | GNPTG, LOC130058158 (A3fs) | Duplication (frameshift variant +1 more) | not provided | |
| | | Deletion (initiator_codon_variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | GNPTG, LOC130058158 (A3del) | Microsatellite (inframe_deletion +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (inframe_insertion) | not specified | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GNPTG, LOC130058158 (A6fs) | Duplication (frameshift variant) | not provided | |
| | GNPTG, LOC130058158 (L9fs) | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense 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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | GNPTG-mucolipidosis +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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GNPTG, LOC130058158 (L10*) | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis +1 more | GConflicting classifications of pathogenicity |
| | GNPTG, LOC130058158 (L11P) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GNPTG, LOC130058158 (G13R) | Single nucleotide variant (missense variant) | not provided | |
| | GNPTG, LOC130058158 (G13fs) | Indel (frameshift variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | GNPTG-mucolipidosis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | GNPTG, LOC130058158 (A16V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | GNPTG-mucolipidosis | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |