NM_000215.4(JAK3):c.1333C>T (p.Arg445Ter)Pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
β
β2024β Residue 445
NM_000215.4(JAK3):c.1695C>A (p.Cys565Ter)Pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency|not provided
β
β
β
β2024β Residue 565
NM_000215.4(JAK3):c.2311C>T (p.Arg771Ter)Pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
β
β2024β Residue 771
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter)Pathogenic
not provided|T-B+ severe combined immunodeficiency due to JAK3 deficiency|Severe combined immunodeficiency disease
β
β
β
β2023β Residue 451
NM_000215.4(JAK3):c.1837C>T (p.Arg613Ter)Pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
β
β2023β Residue 613
NM_000215.4(JAK3):c.175A>T (p.Lys59Ter)Likely pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
β
β2023β Residue 59
NM_000215.4(JAK3):c.2680+89G>ALikely pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
β
β2023
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)Pathogenic
Severe combined immunodeficiency disease|not provided|T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
β
β2023β Residue 227
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)Likely pathogenic
Severe combined immunodeficiency disease|T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
β
β2023β Residue 582
NM_000215.4(JAK3):c.1205G>A (p.Arg402His)Likely pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency|Severe combined immunodeficiency disease
β
β
ββ2025β Residue 402
NM_000215.4(JAK3):c.1432dup (p.Arg478fs)Pathogenic
not provided|T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
ββ2025β Residue 478
NM_000215.4(JAK3):c.307C>T (p.Arg103Cys)Pathogenic
not provided|T-B+ severe combined immunodeficiency due to JAK3 deficiency|Severe combined immunodeficiency disease
β
β
ββ2025β Residue 103
NM_000215.4(JAK3):c.1019C>A (p.Ser340Ter)Pathogenic
not provided|T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
ββ2025β Residue 340
NM_000215.4(JAK3):c.2680+3G>CPathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
ββ2025
NM_000215.4(JAK3):c.3208-1G>APathogenic
not provided|T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
ββ2025
NM_000215.4(JAK3):c.308G>A (p.Arg103His)Pathogenic
not provided|T-B+ severe combined immunodeficiency due to JAK3 deficiency|Severe combined immunodeficiency disease
β
β
ββ2025β Residue 103
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)Pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency|Severe combined immunodeficiency disease
β
β
ββ2025β Residue 1029
NM_000215.4(JAK3):c.2978G>A (p.Trp993Ter)Likely pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency
β
β
ββ2024β Residue 993
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser)Pathogenic
not provided|T-B+ severe combined immunodeficiency due to JAK3 deficiency|Severe combined immunodeficiency disease|Adenoid cystic carcinoma
β
β
ββ2024β Residue 589
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)Pathogenic
T-B+ severe combined immunodeficiency due to JAK3 deficiency|Severe combined immunodeficiency disease
β
β
ββ2024β Residue 904