NM_004329.3(BMPR1A):c.1313G>A (p.Trp438Ter)Pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 438
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β
β
ββ2025β Residue 43
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β
β
ββ2025β Residue 22
NM_004329.3(BMPR1A):c.230+1G>ALikely pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_004329.3(BMPR1A):c.934del (p.His312fs)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β
β
ββ2025β Residue 312
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Juvenile polyposis syndrome
β
β
ββ2025β Residue 273
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter)Pathogenic
Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
β
β
ββ2025β Residue 195
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome|Neoplasm|not provided|BMPR1A-Related Polyposis Syndrome
β
β
ββ2025β Residue 228
NM_004329.3(BMPR1A):c.1231G>A (p.Glu411Lys)Likely pathogenic
Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome|Neoplasm
β
β
ββ2025β Residue 411
NM_004329.3(BMPR1A):c.772del (p.Val258fs)Pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 258
NM_004329.3(BMPR1A):c.370T>C (p.Cys124Arg)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|not provided|Polyposis syndrome, hereditary mixed, 2
β
β
ββ2025β Residue 124
NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)Pathogenic
Juvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 117
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome|not provided|Polyposis syndrome, hereditary mixed, 2
β
β
ββ2025β Residue 361
NM_004329.3(BMPR1A):c.67+1G>APathogenic
Juvenile polyposis syndrome|Polyposis syndrome, hereditary mixed, 2|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_004329.3(BMPR1A):c.176del (p.Phe58_Leu59insTer)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β
β
ββ2025β Residue 58
NM_004329.3(BMPR1A):c.1275C>A (p.Tyr425Ter)Pathogenic
Juvenile polyposis syndrome
β
β
ββ2025β Residue 425
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
β
β
ββ2025β Residue 88
NM_004329.3(BMPR1A):c.15C>G (p.Tyr5Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|not provided
β
β
ββ2025β Residue 5
NM_004329.3(BMPR1A):c.355C>T (p.Arg119Cys)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Juvenile polyposis syndrome|Generalized juvenile polyposis/juvenile polyposis coli
β
β
ββ2025β Residue 119
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Juvenile polyposis syndrome
β
β
ββ2025β Residue 494