Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | 3MC syndrome 3 | |
| | COLEC10, LOC101927513
+1 more (T43fs) | Microsatellite (frameshift variant +1 more) | 3MC syndrome 3 | |
| | | Single nucleotide variant (missense variant) | 3MC syndrome 3 | |
| | | Deletion (frameshift variant) | 3MC syndrome 3 | |
| | COLEC10, LOC101927513
+1 more (R9*) | Single nucleotide variant (nonsense +1 more) | COLEC10-related condition +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene