| | TP53BP1, TUBGCP4 (D1968N +4 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | TP53BP1, TUBGCP4 (L600P +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TP53BP1, TUBGCP4 (C1888Y +4 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | TP53BP1, TUBGCP4 (T1849S +4 more) | Single nucleotide variant (3 prime UTR variant +1 more) | TP53BP1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (S632G +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TP53BP1, TUBGCP4 (V1919I +4 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | TP53BP1, TUBGCP4 (A1913G +4 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | TP53BP1, TUBGCP4 (T655N +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TP53BP1, TUBGCP4 (F665L +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | TP53BP1, TUBGCP4 (N639fs +1 more) | Deletion (frameshift variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (D604N +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (V616L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | | Microsatellite (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (R607C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (R621C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (D649A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (V596fs +1 more) | Duplication (frameshift variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (A609S +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (R606H +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (K627R +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (C594Y +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (A609T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (G665R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | TP53BP1, TUBGCP4 (R647* +1 more) | Single nucleotide variant (nonsense +1 more) | not provided | |
| | TUBGCP4, TP53BP1 (G617C +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (V578A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (M666I +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (D588A +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (R633Q +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (V615L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | TP53BP1, TUBGCP4 (S594L +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Microcephaly and chorioretinopathy 3 +3 more | GConflicting classifications of pathogenicity |