| | LOC129929733, LOC129929734 +1145 more | Copy number gain | See cases | |
| | | Inversion | Bilateral polymicrogyria | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Duplication (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (splice donor variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Deletion (splice donor variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Duplication (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Insertion (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (splice donor variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Severe combined immunodeficiency due to CTPS1 deficiency | |