| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (nonsense) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (splice acceptor variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (nonsense) | Acrodermatitis continua suppurativa of Hallopeau | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Deletion (frameshift variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (splice acceptor variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Copy number gain | Mosaic trisomy 2 | |
| | | Single nucleotide variant (intron variant) | Autoinflammatory syndrome | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +1 more | |
| | | Duplication (3 prime UTR variant) | Autoinflammatory syndrome | |
| | | Copy number gain | 2q13q22.3 microduplication syndrome | |
| | | Deletion (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Copy number loss | not specified | |
| | | Deletion (frameshift variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Deletion | Generalized pustular psoriasis +1 more | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Deletion (frameshift variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis +1 more | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Duplication (frameshift variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Endometriosis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (synonymous variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (intron variant) | Generalized pustular psoriasis | |
| | | Deletion | Generalized pustular psoriasis | |
| | | Single nucleotide variant (splice donor variant) | Generalized pustular psoriasis | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis +1 more | |
| | | Single nucleotide variant (missense variant) | Generalized pustular psoriasis +1 more | |
| | | Single nucleotide variant (missense variant) | Autoinflammatory syndrome +1 more | |