| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +4 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Copy number loss | not specified | |
| | | Duplication | Hereditary spastic paraplegia 4 | |
| | | Copy number gain | See cases | |
| | DNAJC27, DNAJC5G +131 more | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Duplication | Familial cold autoinflammatory syndrome 4 +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Inversion | Endometrial carcinoma | |
| | | Inversion | Small cell lung carcinoma | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LINC01115, LINC01121 +1400 more | Copy number gain | See cases | |
| | LOC126806103, LOC126806104 +1047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
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