| | | Deletion (frameshift variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (nonsense) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | |
| | CARMIL2 (G1114del +1 more) | Microsatellite (inframe_deletion) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | |
| | | Single nucleotide variant (splice donor variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | |
| | | Single nucleotide variant (nonsense) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (splice donor variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Deletion (frameshift variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Deletion (frameshift variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (missense variant) | Severe combined immunodeficiency due to CARMIL2 deficiency | |
| | | Single nucleotide variant (splice donor variant) | Combined immunodeficiency +1 more | |
| | | Duplication (frameshift variant) | Combined immunodeficiency +1 more | |