| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Abnormal dental enamel morphology +19 more | |
| | | Single nucleotide variant (nonsense) | Schimke immuno-osseous dysplasia +9 more | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (missense variant) | COL7A1-related condition +23 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +15 more | |
| | | Single nucleotide variant (missense variant) | Global developmental delay +6 more | |
| | | Single nucleotide variant (synonymous variant) | Coffin-Siris syndrome 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Decreased body weight +14 more | |
| | | Single nucleotide variant (splice donor variant) | Mask-like facies +6 more | GPathogenic/Likely pathogenic |
| | LOC126860802, ZMYND11 (E432K +15 more) | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 30 +6 more | |
| | | Deletion (frameshift variant +1 more) | Dilated cardiomyopathy 3B +9 more | |
Click to view in NCBI Gene