| | | Copy number gain | See cases | |
| | LOC613266, MACROD2 +950 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | EDEM2, MMP24-AS1-EDEM2 (R509K +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (P490L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (A492E +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (A488T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (R471S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (S507A +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (S470T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (A443T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (N474S +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (I435T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (Y420C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (D401E +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | EDEM2, MMP24-AS1-EDEM2 (R424H +2 more) | Single nucleotide variant (missense variant +1 more) | Maturity onset diabetes mellitus in young | |
| | EDEM2, MMP24-AS1-EDEM2 (R383C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (T347I +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (R345H +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (I337T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (R323Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (E362Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (W306R +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (I285M +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (I289T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (T265I +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (M236L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (I232M +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (R188Q +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (R183H +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (R187C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (R219T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (P175L +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (P143T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (M130V +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (S114C +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (D106N +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (I46T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (A40T +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (D31V) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (P25A) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | MMP24-AS1-EDEM2, EDEM2 (C13F) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | EDEM2, MMP24-AS1-EDEM2 (R4L) | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Deletion | Glutathione synthetase deficiency with 5-oxoprolinuria | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Long QT syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |