NM_002382.5(MAX):c.200C>A (p.Ala67Asp)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
β
β
ββ2026β Residue 67
NM_002382.5(MAX):c.97C>T (p.Arg33Ter)Pathogenic
Pheochromocytoma, susceptibility to|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma|not provided
β
β
ββ2025β Residue 33
NM_002382.5(MAX):c.100A>T (p.Lys34Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma|not provided
β
β
ββ2025β Residue 34
NM_002382.5(MAX):c.289C>T (p.Gln97Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 97
NM_002382.5(MAX):c.228del (p.Asn78fs)Pathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 78
NM_002382.5(MAX):c.223C>T (p.Arg75Ter)Pathogenic
Pheochromocytoma, susceptibility to|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma|Neoplasm|not provided
β
β
ββ2025β Residue 75
NM_002382.5(MAX):c.233dup (p.Asn78fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Hereditary pheochromocytoma and paraganglioma
β
β
ββ2025β Residue 78
NM_002382.5(MAX):c.3G>A (p.Met1Ile)Pathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 1
NM_002382.5(MAX):c.271C>T (p.Gln91Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
β
β
ββ2024β Residue 91
NM_002382.5(MAX):c.295+1G>APathogenic
Pheochromocytoma, susceptibility to|Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
β
β
ββ2024
NM_002382.5(MAX):c.295+1G>TPathogenic
Hereditary pheochromocytoma and paraganglioma|Hereditary cancer-predisposing syndrome
β
β
ββ2024
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma|Pheochromocytoma
β
β
ββ2023β Residue 19
NM_002382.5(MAX):c.22G>T (p.Glu8Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Hereditary pheochromocytoma and paraganglioma
β
β
ββ2020β Residue 8
NM_145112.3(MAX):c.36+732delPathogenic
Hereditary pheochromocytoma and paraganglioma
β
βββ2026
NM_002382.5(MAX):c.36+1delLikely pathogenic
Hereditary pheochromocytoma and paraganglioma
β
βββ2025
NM_002382.5(MAX):c.3G>C (p.Met1Ile)Pathogenic
Hereditary cancer-predisposing syndrome
β
βββ2025β Residue 1
NM_002382.5(MAX):c.146C>G (p.Ser49Ter)Pathogenic
Hereditary pheochromocytoma and paraganglioma
β
βββ2025β Residue 49
NM_002382.5(MAX):c.220A>G (p.Met74Val)Likely pathogenic
Hereditary cancer-predisposing syndrome
β
βββ2025β Residue 74
NM_002382.5(MAX):c.171+2T>GLikely pathogenic
Hereditary cancer-predisposing syndrome
β
βββ2024
NM_002382.5(MAX):c.37-2A>CLikely pathogenic
Hereditary pheochromocytoma and paraganglioma
β
βββ2024