| | LOC129932021, LOC129932022 +478 more | Copy number loss | See cases | |
| | LOC129932539, LOC129932540 +1148 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC01221, LINC01222 +20 more | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (splice donor variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | LOC108281163, LOC126805968 +6 more | Copy number loss | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (frameshift variant +2 more) | Severe combined immunodeficiency disease | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Duplication (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 105 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Deletion (frameshift variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Deletion (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Deletion (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (nonsense +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |
| | | Single nucleotide variant (missense variant +1 more) | Immunodeficiency 105 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 104 | |