| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | GNPTG-mucolipidosis +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Microsatellite (inframe_deletion) | Rod-cone dystrophy +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Deletion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Duplication (frameshift variant) | GNPTG-mucolipidosis | |
| | | Insertion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Deletion (intron variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | GNPTG-mucolipidosis | |
| | | Deletion | GNPTG-mucolipidosis | |
| | | Insertion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Deletion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Deletion (frameshift variant) | GNPTG-mucolipidosis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
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