| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129938007, LOC129938008 +1317 more | Copy number gain | See cases | |
| | LOC129938312, LOC129938313 +1246 more | Copy number gain | See cases | |
| | LOC129937897, LOC129937898 +1244 more | Copy number gain | See cases | |
| | LOC129938023, LOC129938024 +1200 more | Copy number gain | See cases | |
| | LOC129938326, LOC129938327 +1064 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +627 more | Copy number gain | See cases | |
| | LOC129938320, LOC129938321 +1041 more | Copy number gain | See cases | |
| | ABCC5, ABCC5-AS1 +867 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Currarino triad | |
| | LINC01206, ACTL6A +44 more | Deletion | Anophthalmia/microphthalmia-esophageal atresia syndrome | |
| | ABCC5, ABCC5-AS1 +399 more | Copy number loss | See cases | |
| | LINC01206, LINC01994 +13 more | Copy number loss | See cases | |
| | LINC01206, LOC108281177 +8 more | Copy number loss | See cases | |
Click to view in NCBI Gene