| | | Copy number gain | See cases | |
| | LOC130059883, LOC130059884 +922 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ALOX12B, ALOX15B +191 more | Copy number loss | See cases | |
| | | Copy number loss | Vascular endothelial growth factor (VEGF) inhibitor response | |
| | LOC130060172, LOC126862483 +3 more | Deletion | Li-Fraumeni syndrome | |
| | LOC126862483, LOC130060171 +3 more | Deletion | Li-Fraumeni syndrome | |
| | LOC130060207, LOC130060208 +141 more | Deletion | Li-Fraumeni syndrome | |
| | LOC130060232, LOC130060233 +141 more | Deletion | Li-Fraumeni syndrome +2 more | |
| | LOC126862483, LOC130060171 +3 more | Duplication | Li-Fraumeni syndrome | |
| | LOC126862483, LOC130060171 +3 more | Duplication | Li-Fraumeni syndrome | |
| | LOC126862483, LOC130060172 +2 more | Duplication | Li-Fraumeni syndrome | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (intron variant) | not specified | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (intron variant) | Squamous cell carcinoma of the head and neck | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (intron variant) | not provided | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (splice donor variant +1 more) | Li-Fraumeni syndrome | |
| | LOC126862483, TP53 +1 more | Deletion (splice donor variant +1 more) | Hereditary cancer-predisposing syndrome | |
| | WRAP53, LOC126862483 +1 more | Single nucleotide variant (splice donor variant +1 more) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (splice donor variant +1 more) | Li-Fraumeni syndrome | |
| | LOC126862483, TP53 +1 more | Duplication | Li-Fraumeni syndrome | |
| | LOC126862483, TP53 +1 more | Deletion | Li-Fraumeni syndrome | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +2 more) | not provided | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +2 more) | Squamous cell carcinoma of the head and neck | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +3 more) | not specified +1 more | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +2 more) | Li-Fraumeni syndrome +1 more | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +2 more) | Li-Fraumeni syndrome 1 +1 more | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +2 more) | Li-Fraumeni syndrome 1 +1 more | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +2 more) | not specified | |
| | LOC126862483, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +2 more) | Li-Fraumeni syndrome 1 | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Duplication (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) | Dyskeratosis Congenita, Recessive | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis congenita, autosomal recessive 3 | |
| | LOC130060173, TP53 +1 more | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis congenita, autosomal recessive 3 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis congenita, autosomal recessive 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis congenita, autosomal recessive 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis congenita, autosomal recessive 3 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Dyskeratosis congenita, autosomal recessive 3 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Dyskeratosis congenita, autosomal recessive 3 | |
| | | Single nucleotide variant (intron variant +1 more) | Dyskeratosis congenita, autosomal recessive 3 | |
| | | Single nucleotide variant (intron variant +1 more) | Dyskeratosis congenita, autosomal recessive 3 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Dyskeratosis congenita, autosomal recessive 3 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense 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 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita +1 more | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Dyskeratosis congenita, autosomal recessive 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense 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 | |
| | | 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 | |