| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Copy number loss | 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 (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Symmetrical dyschromatosis of extremities +1 more | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Deletion | not provided | |
| | | Duplication | Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
Click to view in NCBI Gene