NM_002187.3(IL12B):c.660T>A (p.Tyr220Ter)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency|IL12B-related disorder
★★☆☆2022→ Residue 220
NM_002187.3(IL12B):c.130G>T (p.Glu44Ter)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2026→ Residue 44
NM_002187.3(IL12B):c.179G>A (p.Trp60Ter)Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2025→ Residue 60
NM_002187.3(IL12B):c.282dup (p.Glu95fs)Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2025→ Residue 95
NM_002187.3(IL12B):c.862dup (p.Arg288fs)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2025→ Residue 288
NM_002187.3(IL12B):c.527_528del (p.Ser176fs)Likely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2024→ Residue 176
NM_002187.3(IL12B):c.320dup (p.Glu108fs)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2024→ Residue 108
NM_002187.3(IL12B):c.697+5G>ALikely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2024
NM_002187.3(IL12B):c.507dup (p.Cys170fs)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2024→ Residue 170
NM_002187.3(IL12B):c.364+1G>TLikely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2023
NM_002187.3(IL12B):c.383_386del (p.Thr127_Phe128insTer)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2023→ Residue 127
NM_002187.3(IL12B):c.855+1G>ALikely pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2021
NM_002187.3(IL12B):c.900C>A (p.Cys300Ter)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2021→ Residue 300
NM_002187.3(IL12B):c.510C>A (p.Cys170Ter)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2020→ Residue 170
NM_002187.3(IL12B):c.30G>A (p.Trp10Ter)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2019→ Residue 10
NM_002187.3(IL12B):c.259C>T (p.Gln87Ter)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
★☆☆☆2017→ Residue 87
NM_002187.3(IL12B):c.298_305del (p.Ser100fs)Pathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
☆☆☆☆2014→ Residue 100
NC_000005.10:g.(159317671_159317673)_(159322312_159322314)delPathogenic
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
☆☆☆☆1998