| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication | Neurodevelopmental disorder | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Abnormal esophagus morphology | |
| | ACTBL2, ADAMTS12 +1445 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126807363, LOC126807364 +518 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
Click to view in NCBI Gene