| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | XNDC1N-ZNF705EP-ALG1L9P, DEFB108B (Q53R) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | 3-methylglutaconic aciduria, type VIIB | |
| | KRTAP5-8, KRTAP5-9 +16 more | Duplication | Cerebral folate transport deficiency | |
Click to view in NCBI Gene