| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126807210, LOC126807211 +1102 more | Copy number gain | See cases | |
| | LOC126807213, LOC126807214 +1068 more | Copy number gain | See cases | |
| | LOC132089068, LOC132089069 +1051 more | Copy number gain | See cases | |
| | LOC126807202, LOC126807203 +1026 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129993194, LOC129993195 +903 more | Copy number gain | See cases | |
| | LOC123493228, LOC123493229 +481 more | Copy number gain | See cases | |
| | LOC123493216, LOC123493217 +6 more | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | MAB21L2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (inframe_deletion +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Insertion (inframe_insertion +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | MAB21L2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Colobomatous microphthalmia-rhizomelic dysplasia syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication | Combined immunodeficiency due to LRBA deficiency | |
| | | Deletion | Combined immunodeficiency due to LRBA deficiency | |
| | FAM149A, FAM218A +197 more | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not specified | |
| | | Deletion | Combined immunodeficiency due to LRBA deficiency | |
| | | Copy number gain | not provided | |
| | | Deletion | Combined immunodeficiency due to LRBA deficiency | |
| | | Deletion | Combined immunodeficiency due to LRBA deficiency | |
| | | Copy number loss | Combined immunodeficiency due to LRBA deficiency | |
| | | Deletion | Combined immunodeficiency due to LRBA deficiency | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |