Links from PubMed
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type IV | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Mucolipidosis type IV | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | MCOLN1-related condition +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene