| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (3 prime UTR variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | CERS1, GDF1
+1 more (C227*) | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-RELATED DISORDERS +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene