| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | LOC112935964, LOC112935965 +171 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CCDC54-AS1, LOC123002328 +682 more | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129937141, TOMM70 (L41R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene