| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 14 +1 more | |
| | | Single nucleotide variant (missense variant) | Chédiak-Higashi syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cryopyrin associated periodic syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Immunodeficiency, common variable, 12 | |
| | | Single nucleotide variant (splice donor variant) | Combined immunodeficiency due to LRBA deficiency | |
| | | Single nucleotide variant (missense variant) | Infantile-onset periodic fever-panniculitis-dermatosis syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to DOCK8 deficiency | |
| | | Single nucleotide variant (missense variant) | Combined immunodeficiency due to DOCK8 deficiency | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Microsatellite (5 prime UTR variant +2 more) | not provided +1 more | |
| | | Microsatellite (5 prime UTR variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Microsatellite (5 prime UTR variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | PSTPIP1, LOC130057652 +1 more | Duplication | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Duplication (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Deletion (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Indel (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Indel (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Deletion (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Duplication (intron variant) | not provided +1 more | |
| | | Deletion (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Deletion (frameshift variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Autoinflammatory syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (splice donor variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |