| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DBNL, LOC129998341
+1 more (R162P) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | PGAM2, DBNL
+1 more (P122L) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998343
+1 more (W78*) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene