| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938007, LOC129938008 +1317 more | Copy number gain | See cases | |
| | LOC129938312, LOC129938313 +1246 more | Copy number gain | See cases | |
| | LOC129937897, LOC129937898 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | LOC129938326, LOC129938327 +1064 more | Copy number gain | See cases | |
| | LOC129938320, LOC129938321 +1041 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +867 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +399 more | Copy number loss | See cases | |
| | LOC110121069, LOC110121110 +557 more | Copy number loss | See cases | |
| | ADIPOQ, ADIPOQ-AS1 +237 more | Copy number loss | See cases | |
| | ATP13A4, ATP13A4-AS1 +180 more | Deletion | Schizophrenia | |
| | LOC132088908, LOC132088909 +97 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | ATP13A3, ATP13A3-DT +226 more | Copy number loss | See cases | |
| | LOC111162620, LOC123464480 +22 more | Copy number loss | See cases | |
| | LOC111162620, LOC111162621 +18 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC111162620, LOC129938146 +1 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Orofacial cleft 8 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | TP63-Related Spectrum Disorders +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Furrowed tongue | |
| | | Single nucleotide variant (missense variant +1 more) | TP63-Related Spectrum Disorders +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | TP63-Related Spectrum Disorders +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (synonymous variant +1 more) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant +1 more) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant +1 more) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant +1 more) | TP63-Related Spectrum Disorders +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Premature ovarian insufficiency | |
| | | Single nucleotide variant (missense variant +1 more) | TP63-Related Spectrum Disorders +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rapp-Hodgkin ectodermal dysplasia syndrome +8 more | |
| | | Single nucleotide variant (intron variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | TP63-Related Spectrum Disorders | |
| | | Inversion (intron variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (intron variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | LOC111162621, LOC129938147 +2 more | Duplication | Primary amenorrhea | |
| | LOC111162621, LOC129938147 +2 more | Duplication | Primary amenorrhea | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (intron variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (intron variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (splice acceptor variant) | TP63-Related Spectrum Disorders +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (synonymous variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (nonsense) | TP63-Related Spectrum Disorders +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ADULT syndrome +7 more | |
| | | Single nucleotide variant (synonymous variant) | TP63-related disorder | |
| | | Single nucleotide variant (synonymous variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders +1 more | |
| | | Single nucleotide variant (missense variant) | TP63-related disorder | |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (synonymous variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | TP63-Related Spectrum Disorders +7 more | |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Muscular dystrophy | |
| | | Single nucleotide variant (intron variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | TP63-Related Spectrum Disorders +9 more | |
| | | Single nucleotide variant (intron variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | TP63-Related Spectrum Disorders | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |