| | | Copy number loss | See cases | |
| | LOC129389795, LOC129389796 +636 more | Copy number gain | See cases | |
| | LOC121175342, LOC121740678 +380 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129998373, LOC129998374 +231 more | Copy number loss | See cases | |
| | SNORA5A, SNORA5B +212 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | 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 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Rhabdomyolysis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Deletion (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | DBNL, LOC129998341 +1 more (V172G) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998341 +1 more (I171L) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998341 +1 more (I171V) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | DBNL, LOC129998341 +1 more (E169K) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998341 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998341 +1 more (W167C) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998341 +1 more (W167C) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +2 more | |
| | DBNL, LOC129998341 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998341 +1 more (R162P) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998341 +1 more (R162Q) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | |
| | DBNL, LOC129998341 +1 more (R162W) | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | DBNL, LOC129998341 +1 more (A161V) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | DBNL, LOC129998341 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | PGAM2-related disorder | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | 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 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | |
| | DBNL, LOC129998342 +1 more (P125L) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more (P123L) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | |
| | PGAM2, DBNL +1 more (P123R) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +2 more | |
| | LOC129998342, PGAM2 +1 more (P122L) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more (D120G) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | PGAM2-related disorder | |
| | DBNL, LOC129998342 +1 more (R117H) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more (I114S) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X +1 more | |
| | DBNL, LOC129998342 +1 more (V112M) | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | DBNL, LOC129998342 +1 more (Q111*) | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | DBNL, LOC129998342 +1 more | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Glycogen storage disease type X | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |