| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Duplication | Achondrogenesis, type IA | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | SERPINA10, SERPINA11 +74 more | Copy number loss | Deletion syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126862060, LOC126862061 +3282 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC125048449, LOC125048450 +3277 more | Copy number gain | See cases | |
| | LOC130056651, LOC130056652 +1423 more | Copy number gain | See cases | |
| | IGHD5-18, IGHD5-24 +881 more | Copy number gain | See cases | |
| | LOC130056392, LOC130056393 +1073 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
Click to view in NCBI Gene