| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | not provided | |
| | | Copy number gain | not specified | |
| | TMEM88, TRG-GCC2-6 +31 more | Duplication | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Deletion | Very long chain acyl-CoA dehydrogenase deficiency | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Copy number gain | not provided | |
| | | Duplication | Dyskeratosis congenita +1 more | |
| | | Copy number gain | not provided | |
| | LOC130060195, LOC130060196 +141 more | Deletion | Li-Fraumeni syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | KCNAB3, LOC130060206 +141 more | Deletion | Li-Fraumeni syndrome +2 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ALOX12B, ALOX15B +191 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
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