| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ADNP-AS1, DPM1 (I229V +3 more) | Single nucleotide variant (missense variant +1 more) | Congenital disorder of glycosylation type 1E +1 more | |
| | ADNP-AS1, DPM1 (T207S +2 more) | Single nucleotide variant (missense variant +2 more) | Congenital disorder of glycosylation type 1E | |
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