NM_024529.5(CDC73):c.131+1G>APathogenic
Hyperparathyroidism 1|Parathyroid adenoma, somatic|not provided|Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors
β
β
ββ2026
NM_024529.5(CDC73):c.376C>T (p.Arg126Ter)Pathogenic
Parathyroid carcinoma|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 126
NM_024529.5(CDC73):c.358C>T (p.Arg120Ter)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2025β Residue 120
NM_024529.5(CDC73):c.664C>T (p.Arg222Ter)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 1;Hyperparathyroidism 2 with jaw tumors;Parathyroid carcinoma|not provided
β
β
ββ2025β Residue 222
NM_024529.5(CDC73):c.415C>T (p.Arg139Ter)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|not provided|Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors
β
β
ββ2025β Residue 139
NM_024529.5(CDC73):c.510del (p.Arg171fs)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 171
NM_024529.5(CDC73):c.226C>T (p.Arg76Ter)Pathogenic
not provided|Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 2 with jaw tumors
β
β
ββ2025β Residue 76
NM_024529.5(CDC73):c.513-1G>ALikely pathogenic
Parathyroid carcinoma|Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1
β
β
ββ2025
NM_024529.5(CDC73):c.96G>A (p.Trp32Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Parathyroid carcinoma
β
β
ββ2025β Residue 32
NM_024529.5(CDC73):c.1030+2T>CLikely pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)Pathogenic
Parathyroid carcinoma|not provided|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 2 with jaw tumors;Hyperparathyroidism 1;Parathyroid carcinoma|CDC73-related disorder
β
β
ββ2025β Residue 230
NM_024529.5(CDC73):c.128G>A (p.Trp43Ter)Pathogenic
Parathyroid carcinoma
β
β
ββ2025β Residue 43
NM_024529.5(CDC73):c.240del (p.Glu81fs)Pathogenic
not provided|Parathyroid carcinoma
β
β
ββ2025β Residue 81
NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 338
NM_024529.5(CDC73):c.700C>T (p.Arg234Ter)Pathogenic
not provided|Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 234
NM_024529.5(CDC73):c.245del (p.Asn82fs)Pathogenic
Parathyroid carcinoma|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 82
NM_024529.5(CDC73):c.355C>T (p.Gln119Ter)Pathogenic
not provided|Parathyroid carcinoma
β
β
ββ2025β Residue 119
NM_024529.5(CDC73):c.802C>T (p.Arg268Ter)Pathogenic
not provided|Parathyroid carcinoma|Hereditary cancer-predisposing syndrome|Hyperparathyroidism 1|Hyperparathyroidism 2 with jaw tumors;Parathyroid carcinoma;Hyperparathyroidism 1
β
β
ββ2025β Residue 268
NM_024529.5(CDC73):c.271C>T (p.Arg91Ter)Pathogenic
Parathyroid carcinoma|Familial cancer of breast|Hyperparathyroidism 1|Hyperparathyroidism 1;Parathyroid carcinoma;Hyperparathyroidism 2 with jaw tumors|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 91
NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter)Pathogenic
Parathyroid carcinoma|Hyperparathyroidism 2 with jaw tumors|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 399