| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129932244, LOC129932245 +1147 more | Copy number gain | See cases | |
| | LOC126806027, LOC126806028 +723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806029, LOC129932471 +720 more | Copy number loss | Orofacial cleft 2 | |
| | | Copy number gain | See cases | |
| | LOC129932493, LOC129932494 +1325 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Usher syndrome | |
| | | Copy number loss | See cases | |
| | GPATCH2, LINC00210 +22 more | Copy number loss | See cases | |
| | GPATCH2, LINC00210 +19 more | Copy number gain | See cases | |
| | LINC01710, LINC02869 +9 more | Copy number loss | See cases | |
| | | Microsatellite | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Microsatellite (5 prime UTR variant +1 more) | Loeys-Dietz syndrome 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Loeys-Dietz syndrome 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Loeys-Dietz syndrome 4 | |
Click to view in NCBI Gene