NM_181523.3(PIK3R1):c.1425+1G>TPathogenic
Immunodeficiency 36 with lymphoproliferation|not provided|SHORT syndrome;Immunodeficiency 36 with lymphoproliferation;Agammaglobulinemia 7, autosomal recessive|PIK3R1-related disorder
★★☆☆2025
NM_181523.3(PIK3R1):c.1425+1G>APathogenic
not provided|Immunodeficiency 36 with lymphoproliferation|Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome|Inherited Immunodeficiency Diseases|SHORT syndrome|Inborn genetic diseases|See cases|PIK3R1-related disorder|Gastric cancer
★★☆☆2025
NM_181523.3(PIK3R1):c.1300-2A>GPathogenic
Inherited Immunodeficiency Diseases|Immunodeficiency 36 with lymphoproliferation;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive|not provided|Lymphoma|Squamous cell lung carcinoma
★★☆☆2025
NM_181523.3(PIK3R1):c.1425+2T>GPathogenic
Immunodeficiency 36 with lymphoproliferation|not provided|Melanoma
★★☆☆2024
NM_181523.3(PIK3R1):c.1425+2T>APathogenic
Immunodeficiency 36 with lymphoproliferation|Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 with lymphoproliferation|Inborn genetic diseases
★★☆☆2024
NM_181523.3(PIK3R1):c.1425+1G>CPathogenic
Immunodeficiency 36 with lymphoproliferation|not specified|Inborn genetic diseases|SHORT syndrome;Immunodeficiency 36 with lymphoproliferation;Agammaglobulinemia 7, autosomal recessive|See cases
★★☆☆2024
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)Pathogenic
SHORT syndrome|not provided|Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome|Immunodeficiency 36 with lymphoproliferation|Inborn genetic diseases
★★☆☆2024→ Residue 649
NM_181523.3(PIK3R1):c.901C>T (p.Arg301Ter)Pathogenic
Immunodeficiency 36 with lymphoproliferation;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive|PIK3R1-related disorder|Agammaglobulinemia 7, autosomal recessive
★★☆☆2024→ Residue 301
NM_181523.3(PIK3R1):c.1344del (p.Lys448fs)Pathogenic
Colorectal cancer|Immunodeficiency 36 with lymphoproliferation|Immunodeficiency 36 with lymphoproliferation;SHORT syndrome;Agammaglobulinemia 7, autosomal recessive
★★☆☆2023→ Residue 448
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter)Pathogenic
Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 with lymphoproliferation|SHORT syndrome
★★☆☆2023→ Residue 461
NM_181523.3(PIK3R1):c.521del (p.Leu174fs)Pathogenic
Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 174
NM_181523.3(PIK3R1):c.1568+2T>GLikely pathogenic
SHORT syndrome
★☆☆☆2025
NM_181523.3(PIK3R1):c.1814+1G>CLikely pathogenic
SHORT syndrome;Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation
★☆☆☆2025
NM_181523.3(PIK3R1):c.1600C>T (p.Arg534Ter)Pathogenic
Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 534
NM_181523.3(PIK3R1):c.1698_1703dup (p.Pro568_Asp569insLysPro)Likely pathogenic
Vascular malformation
★☆☆☆2025→ Residue 568
NM_181523.3(PIK3R1):c.1756C>T (p.Gln586Ter)Pathogenic
Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 586
NM_181523.3(PIK3R1):c.1713_1714del (p.Gln572fs)Likely pathogenic
SHORT syndrome
★☆☆☆2025→ Residue 572
NM_181523.3(PIK3R1):c.1960C>T (p.Gln654Ter)Pathogenic
Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 654
NM_181523.3(PIK3R1):c.1921_1931del (p.Lys641fs)Likely pathogenic
Agammaglobulinemia 7, autosomal recessive;SHORT syndrome;Immunodeficiency 36 with lymphoproliferation
★☆☆☆2025→ Residue 641
NM_181523.3(PIK3R1):c.703C>T (p.Gln235Ter)Pathogenic
Immunodeficiency 14|Agammaglobulinemia 7, autosomal recessive;Immunodeficiency 36 with lymphoproliferation;SHORT syndrome
★☆☆☆2025→ Residue 235