| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (V167L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (F29L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (R131Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (V110A) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (S26F) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (P25S) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (A113T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (G31E) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | FCRL2, LOC126805883 (R108C) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | Paragangliomas 3 +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ARHGEF11, ARHGEF2 +57 more | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC132088675, LOC132088682 +1585 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |