| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant +1 more) | Right atrial isomerism | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Duplication (3 prime UTR variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition | |
| | CERS1, GDF1
+1 more (C227*) | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | GDF1-related condition +1 more | GConflicting classifications of pathogenicity |
| | GDF1, CERS1 (R157C +2 more) | Single nucleotide variant (missense variant +2 more) | Progressive myoclonic epilepsy type 8 | GConflicting classifications of pathogenicity |
| | GDF1, CERS1 (H183Q +1 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy type 8 | |
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