| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | CCPG1, DNAAF4-CCPG1
+1 more (I537M) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene