NM_002351.5(SH2D1A):c.163C>T (p.Arg55Ter)Pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency|not provided|X-linked lymphoproliferative syndrome
β
β
ββ2025β Residue 55
NM_002351.5(SH2D1A):c.138-1G>APathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency|not provided|Thyroid cancer, nonmedullary, 1
β
β
ββ2024
NM_002351.5(SH2D1A):c.2T>C (p.Met1Thr)Pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency|Autoinflammatory syndrome
β
β
ββ2022β Residue 1
NM_002351.5(SH2D1A):c.201+3A>GLikely pathogenic
not provided|Autoinflammatory syndrome
β
β
ββ2019
NM_002351.5(SH2D1A):c.5A>G (p.Asp2Gly)Likely pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency|not provided
β
β
ββ2018β Residue 2
NM_002351.5(SH2D1A):c.57_59dup (p.Leu21_Ala22insLeu)Likely pathogenic
Lymphoproliferative syndrome with absent SAP expression
β
βββ2026β Residue 21
NM_002351.5(SH2D1A):c.201+1G>CPathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2026
NM_002351.5(SH2D1A):c.126C>A (p.Cys42Ter)Pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2025β Residue 42
NM_002351.5(SH2D1A):c.201+1_201+4delLikely pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2025
NM_002351.5(SH2D1A):c.199_201+23delLikely pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2025
NM_002351.5(SH2D1A):c.137+1G>ALikely pathogenic
Thyroid cancer, nonmedullary, 1|X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2025
NM_002351.5(SH2D1A):c.106dup (p.Ser36fs)Pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2025β Residue 36
NM_002351.5(SH2D1A):c.201+2T>CPathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2025
NM_002351.5(SH2D1A):c.245dup (p.Asn82fs)Pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2024β Residue 82
NM_002351.5(SH2D1A):c.138-2A>GPathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency|Nonpapillary renal cell carcinoma|Thyroid cancer, nonmedullary, 1
β
βββ2024
NM_002351.5(SH2D1A):c.162C>A (p.Tyr54Ter)Likely pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2024β Residue 54
NM_002351.5(SH2D1A):c.201+1dupPathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2023
NM_002351.5(SH2D1A):c.202-8T>GLikely pathogenic
not provided
β
βββ2023
NM_002351.5(SH2D1A):c.201+1G>APathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2023
NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)Pathogenic
X-linked lymphoproliferative disease due to SH2D1A deficiency
β
βββ2023β Residue 1