| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Duplication (nonsense) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (splice donor variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (splice acceptor variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (splice donor variant) | Focal dermal hypoplasia | |
| | | Insertion (inframe_insertion) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (intron variant +1 more) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (nonsense) | Focal dermal hypoplasia +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (splice donor variant) | Focal dermal hypoplasia +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Deletion (5 prime UTR variant +1 more) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (splice donor variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (nonsense) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Focal dermal hypoplasia | |
| | | Deletion (frameshift variant) | Focal dermal hypoplasia | |
| | | Indel (frameshift variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (splice donor variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (missense variant) | Focal dermal hypoplasia | |
| | | Single nucleotide variant (nonsense) | Focal dermal hypoplasia +1 more | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | Focal dermal hypoplasia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Duplication (frameshift variant) | Focal dermal hypoplasia | |