| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Chromosome 16q12 duplication syndrome | |
| | | Deletion | not provided | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (intron variant) | MT1X-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | KCTD19, KIAA0513 +368 more | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | 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 loss | Breast ductal adenocarcinoma | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |
| | LOC130059125, LOC130059126 +675 more | Copy number gain | See cases | |
| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
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