| | LOC130001539, LOC130001540 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC113839508, LOC113839509 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130001667, LOC130001668 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC116186942, LOC116186943 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121366033, LOC121366034 +3785 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130002218, LOC130002219 +994 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC132089736, LOC132089737 +313 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Dystonia 31 | |
| | | Single nucleotide variant (nonsense +2 more) | Dystonia 31 | |
| | | Single nucleotide variant (nonsense +2 more) | Dystonia 31 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Dystonia 31 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Deletion (frameshift variant +1 more) | AOPEP-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Copy number loss | Gorlin syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +2 more) | Dystonia 31 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | AOPEP, LOC101928119 (R247C +2 more) | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Deletion (frameshift variant +2 more) | Dystonia 31 | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | AOPEP, LOC130002124 (L243F +4 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Copy number loss | See cases | |
| | LOC130002205, LOC130002206 +417 more | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +3 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Microsatellite (3 prime UTR variant) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Deletion (3 prime UTR variant) | Fanconi anemia | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |
| | | Single nucleotide variant (3 prime UTR variant) | Fanconi anemia complementation group C | |