| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice donor variant) | Citrullinemia, type II, adult-onset | |
| | | Single nucleotide variant (splice donor variant) | Citrullinemia, type II, adult-onset +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Citrullinemia, type II, adult-onset +1 more | GPathogenic/Likely pathogenic |
| | LOC129998833, SLC25A13 (M1T) | Single nucleotide variant (missense variant +2 more) | Citrullinemia, type II, adult-onset +6 more | |
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