NM_000043.6(FAS):c.778G>A (p.Asp260Asn)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β
β
ββ2025β Residue 260
NM_000043.6(FAS):c.794A>G (p.Asp265Gly)Likely pathogenic
not provided
β
β
ββ2025β Residue 265
NM_000043.6(FAS):c.528G>A (p.Trp176Ter)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|FAS-related disorder|not provided
β
β
ββ2025β Residue 176
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|Inherited Immunodeficiency Diseases|See cases|not provided
β
β
ββ2025β Residue 250
NM_000043.6(FAS):c.691A>T (p.Lys231Ter)Pathogenic
not provided|Autoimmune lymphoproliferative syndrome type 1
β
β
ββ2025β Residue 231
NM_000043.6(FAS):c.758G>T (p.Gly253Val)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β
β
ββ2025β Residue 253
NM_000043.6(FAS):c.749G>A (p.Arg250Gln)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β
β
ββ2025β Residue 250
NM_000043.6(FAS):c.586C>T (p.Gln196Ter)Pathogenic
not provided
β
β
ββ2025β Residue 196
NM_000043.6(FAS):c.776T>C (p.Ile259Thr)Likely pathogenic
Autoimmune lymphoproliferative syndrome type 1
β
β
ββ2025β Residue 259
NM_000043.6(FAS):c.443+1G>APathogenic
not provided|Thyroid cancer, nonmedullary, 1
β
β
ββ2025
NM_000043.6(FAS):c.536T>G (p.Leu179Arg)Likely pathogenic
Splenomegaly|Autoimmune lymphoproliferative syndrome type 1|not provided
β
β
ββ2025β Residue 179
NM_000043.6(FAS):c.332A>G (p.His111Arg)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β
β
ββ2024β Residue 111
NM_000043.6(FAS):c.46_47del (p.Val15_Ala16insTer)Pathogenic
not provided|Autoimmune lymphoproliferative syndrome type 1
β
β
ββ2024β Residue 15
NM_000043.6(FAS):c.657_658del (p.Val220fs)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β
β
ββ2024β Residue 220
NM_000043.6(FAS):c.685_686del (p.Leu229fs)Pathogenic
Autoimmune lymphoproliferative syndrome type 1|not provided
β
β
ββ2023β Residue 229
NM_000043.6(FAS):c.651+2T>CPathogenic
FAS-related autoimmune lymphoproliferative syndrome|Autoimmune lymphoproliferative syndrome type 1
β
β
ββ2023
NM_000043.6(FAS):c.20T>C (p.Leu7Pro)Likely pathogenic
not provided|Autoimmune lymphoproliferative syndrome type 1
β
β
ββ2023β Residue 7
NM_000043.6(FAS):c.651+1G>APathogenic
Autoimmune lymphoproliferative syndrome type 1
β
β
ββ2022
NM_000043.6(FAS):c.879_880del (p.Leu294fs)Pathogenic
not provided|Autoimmune lymphoproliferative syndrome type 1
β
β
ββ2020β Residue 294
NM_000043.6(FAS):c.476_489del (p.Leu159fs)Pathogenic
Autoimmune lymphoproliferative syndrome type 1
β
βββ2026β Residue 159