| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129932539, LOC129932540 +1148 more | Copy number gain | See cases | |
| | LOC129388734, LOC129388735 +723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806029, LOC129932471 +720 more | Copy number loss | Orofacial cleft 2 | |
| | LOC120908923, LOC120947224 +1352 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC122149494, LOC122149495 +66 more | Copy number loss | Diaphragmatic hernia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | RPS6KC1, SERTAD4 +185 more | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number gain | See cases | |
| | C1orf35, C1orf74 +320 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | AVPR1B, B3GALNT2 +393 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
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