NM_203447.4(DOCK8):c.529-2A>GLikely pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2026
NM_203447.4(DOCK8):c.6019dup (p.Tyr2007fs)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2025β Residue 2007
NM_203447.4(DOCK8):c.5386C>T (p.Arg1796Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2025β Residue 1796
NM_203447.4(DOCK8):c.1418A>G (p.Lys473Arg)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency|Severe combined immunodeficiency disease
β
β
ββ2025β Residue 473
NM_203447.4(DOCK8):c.949C>T (p.Arg317Ter)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2025β Residue 317
NM_203447.4(DOCK8):c.2986C>T (p.Gln996Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2025β Residue 996
NM_203447.4(DOCK8):c.3175dup (p.Leu1059fs)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2024β Residue 1059
NM_203447.4(DOCK8):c.1963C>T (p.Gln655Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency|
β
β
ββ2024β Residue 655
NM_203447.4(DOCK8):c.6022C>T (p.Arg2008Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2024β Residue 2008
NM_203447.4(DOCK8):c.2779-2A>CLikely pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2024
NM_203447.4(DOCK8):c.5261del (p.Leu1754fs)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2024β Residue 1754
NM_203447.4(DOCK8):c.1357G>T (p.Glu453Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2024β Residue 453
NM_203447.4(DOCK8):c.3530+1G>ALikely pathogenic
Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2024
NM_203447.4(DOCK8):c.1498C>T (p.Arg500Ter)Pathogenic
Combined immunodeficiency due to DOCK8 deficiency|
β
β
ββ2024β Residue 500
NM_203447.4(DOCK8):c.850_851del (p.Leu284fs)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency|
β
β
ββ2023β Residue 284
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)Pathogenic
Severe combined immunodeficiency disease|Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2023β Residue 392
NM_203447.4(DOCK8):c.4162C>T (p.Arg1388Ter)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2023β Residue 1388
NM_203447.4(DOCK8):c.2971-1G>APathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency|Thyroid cancer, nonmedullary, 1
β
β
ββ2023
NM_203447.4(DOCK8):c.3339del (p.Phe1113fs)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency
β
β
ββ2022β Residue 1113
NM_203447.4(DOCK8):c.5132C>A (p.Ser1711Ter)Pathogenic
not provided|Combined immunodeficiency due to DOCK8 deficiency|DOCK8-related disorder
β
β
ββ2022β Residue 1711