| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ADNP-AS1, DPM1 (T260I +3 more) | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation type 1E +2 more | |
| | DPM1, LOC130066166 (F51del) | Deletion (inframe_deletion +1 more) | Congenital disorder of glycosylation type 1E | |
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