| | | Single nucleotide variant (nonsense) | Genitourinary and/or brain malformation syndrome | |
| | | Single nucleotide variant (nonsense) | PPP1R12A-related condition | |
| | | Deletion (frameshift variant +1 more) | Genitourinary and/or brain malformation syndrome | |
| | | Microsatellite (nonsense) | Genitourinary and/or brain malformation syndrome | |
| | | Deletion (frameshift variant) | Genitourinary and/or brain malformation syndrome | |
| | LOC112163633, PPP1R12A (V43fs) | Deletion (frameshift variant) | Genitourinary and/or brain malformation syndrome | |
| | | Single nucleotide variant (missense variant) | Genitourinary and/or brain malformation syndrome | |
| | PPP1R12A (E159del +1 more) | Microsatellite (inframe_deletion) | Genitourinary and/or brain malformation syndrome | |
| | | Deletion (frameshift variant) | Genitourinary and/or brain malformation syndrome | |
| | | Single nucleotide variant (nonsense) | Genitourinary and/or brain malformation syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Genitourinary and/or brain malformation syndrome | |
| | | Single nucleotide variant (missense variant) | Genitourinary and/or brain malformation syndrome | |
| | | Deletion (frameshift variant) | Genitourinary and/or brain malformation syndrome | |
| | | Deletion (frameshift variant) | Genitourinary and/or brain malformation syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Genitourinary and/or brain malformation syndrome | |
| | | Deletion (nonsense) | Genitourinary and/or brain malformation syndrome | |
| | | Deletion (frameshift variant) | Genitourinary and/or brain malformation syndrome | |
| | | Single nucleotide variant (nonsense) | Genitourinary and/or brain malformation syndrome | |