| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | 3-methylglutaconic aciduria, type VIIB | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not specified | |
| | | Deletion | Intellectual disability | |
| | ANAPC15, DEFB108B +16 more | Duplication | Cerebral folate transport deficiency | |
| | | Copy number gain | not provided | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |
| | SLC37A4, SNORD26 +1289 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130006424, LOC130006425 +305 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene