| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Landsteiner-Wiener phenotype | |
| | | Single nucleotide variant (missense variant) | Landsteiner-Wiener phenotype | |
| | | Deletion (frameshift variant) | Landsteiner-Wiener phenotype | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | ICAM4, ICAM4-AS1 (A144V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ICAM4, ICAM4-AS1 (E196K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ICAM4, ICAM4-AS1 (A180E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ICAM4, ICAM4-AS1 (R182P +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | ICAM4-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases | |
| | ICAM4, ICAM4-AS1 (M231V +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ICAM4, ICAM4-AS1 (A237T +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |