| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Deletion (3 prime UTR variant) | Familial Atypical Mycobacteriosis, Autosomal Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (3 prime UTR variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Deletion (frameshift variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency 31B +3 more | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Deletion (frameshift variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 31B +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (missense variant) | Inherited Immunodeficiency Diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | STAT1-related disorder +3 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (splice donor variant +2 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (intron variant) | Immunodeficiency 31B +2 more | |
| | | Deletion (intron variant) | Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 31B +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Immunodeficiency 31B +3 more | |