| | LOC130060143, LOC130060144 +963 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | LOC126862500, LOC126862501 +461 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ALOX12B, ALOX15B +191 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | CD68, LOC130060163 (T157I +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | Deletion | Common variable immunodeficiency | |
| | | Deletion | Li-Fraumeni syndrome | |
| | | Deletion | Very long chain acyl-CoA dehydrogenase deficiency | |
| | | Duplication | Very long chain acyl-CoA dehydrogenase deficiency +1 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Dyskeratosis congenita +1 more | |
| | TNFSF12-TNFSF13, ZBTB4 +12 more | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | SAMD14, SLC38A10 +1143 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | TNFSF12, TNFSF12-TNFSF13 +1143 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |