| | LOC130065884, LOC130065885 +2522 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TP53RK-related disorder | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | TP53RK-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | TP53RK-related disorder +2 more | |
| | | Duplication (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | TP53RK-related disorder | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | | Deletion (frameshift variant) | Galloway-Mowat syndrome 4 | |
| | | Single nucleotide variant (missense variant) | TP53RK-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Galloway-Mowat syndrome 4 | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (synonymous variant +1 more) | TP53RK-related disorder | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130065998, TP53RK +1 more (P17S) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130065998, TP53RK +1 more (G12S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC130065998, TP53RK +1 more (D11E) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130065998, TP53RK +1 more (T8M) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | LOC130065998, TP53RK +1 more (T7A) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130065998, TP53RK +1 more (A6fs) | Microsatellite (frameshift variant) | Galloway-Mowat syndrome 4 | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC130065998, TP53RK +1 more (A4V) | Single nucleotide variant (missense variant) | not provided | |
| | LOC130065998, TP53RK +1 more | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency | |
| | | Duplication | not provided | |
| | | Copy number loss | Developmental and epileptic encephalopathy, 26 | |
| | | Deletion | Focal-onset seizure | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Galloway-Mowat syndrome 4 +1 more | GConflicting classifications of pathogenicity |