| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | P4HA3, PPME1 (A378G +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | 3-methylglutaconic aciduria, type VIIB | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | P4HA3, PPME1 (V382M +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | P4HA3, PPME1 (P384S +1 more) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | MISSED ABORTION | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | GAL3ST3, GALNT18 +1289 more | Copy number gain | See cases | |
| | MRGPRX3, MRGPRX4 +1289 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC130006424, LOC130006425 +305 more | Copy number loss | See cases | |
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