| 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 | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | GRPEL2, GRPEL2-AS1 (S108R) | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Deletion | Familial adenomatous polyposis 1 +1 more | |
| | | Copy number loss | See cases | |
| | | 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