| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 65577 | single nucleotide variant | NM_001102653.1(OTUD4):c.998G>T (p.Gly333Val) | 148857745 | - | 4 | 146071731 | 146071731 | C | A |
| 65577 | single nucleotide variant | NM_001102653.1(OTUD4):c.998G>T (p.Gly333Val) | 148857745 | - | 4 | 145150579 | 145150579 | C | A |
| 207107 | single nucleotide variant | NM_001102653.1(OTUD4):c.2808T>A (p.Ala936=) | 147253069 | MedGen:CN169374 | 4 | 145137772 | 145137772 | A | T |
| 207107 | single nucleotide variant | NM_001102653.1(OTUD4):c.2808T>A (p.Ala936=) | 147253069 | MedGen:CN169374 | 4 | 146058924 | 146058924 | A | T |