| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number loss | See cases | |
| | LOC129994992, LOC129994993 +1157 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ACSL6, ACSL6-AS1 +263 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | | Single nucleotide variant (missense variant +2 more) | not specified | |
| | LOC129994614, ZCCHC10 (R11W) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129994614, ZCCHC10 (A10S) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129994614, ZCCHC10 (A10P) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Houge-Janssens syndrome 3 | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number gain | Blepharophimosis +5 more | |
| | | Deletion | Familial adenomatous polyposis 1 +1 more | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene