| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Congenital heart defects, multiple types, 6 | |
| | CERS1, GDF1 (S176W +1 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy type 8 +1 more | |
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