| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Severe combined immunodeficiency due to CTPS1 deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Copy number loss | See cases | |
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