| | LOC129934199, LOC129934200 +2457 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | not specified | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | CD207-related condition | |
| | CD207, LOC126806248 (Y323H) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CD207, LOC126806248 (R321Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | CD207, LOC126806248 (R321L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CD207-related condition | |
| | CD207, LOC126806248 (V278A) | Single nucleotide variant (missense variant) | CD207-related condition | |
| | | Single nucleotide variant (missense variant) | Birbeck granule deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CD207-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | CD207-related condition | |
| | | Single nucleotide variant (synonymous variant) | Birbeck granule deficiency | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | CD207-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CD207-related condition | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | CD207-related condition | |
| | | Single nucleotide variant (missense variant) | CD207-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication | not specified | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Deletion | Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |