| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | COLEC10, LOC101927513 +1 more (R9*) | Single nucleotide variant (nonsense +1 more) | See cases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | COLEC10-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
Click to view in NCBI Gene