NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Melanoma-pancreatic cancer syndrome|Hereditary cancer-predisposing syndrome|Familial melanoma|not provided|Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome|Melanoma and neural system tumor syndrome
β
β
ββ2026β Residue 59
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)Likely pathogenic
Familial melanoma|not provided|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Melanoma and neural system tumor syndrome|Familial meningioma
β
β
ββ2026β Residue 87
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Melanoma-pancreatic cancer syndrome|Hereditary cancer-predisposing syndrome|Familial melanoma|not provided|Melanoma|Melanoma and neural system tumor syndrome|CDKN2A-related disorder|Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome
β
β
ββ2026β Residue 101
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome|Melanoma and neural system tumor syndrome|Melanoma-pancreatic cancer syndrome|CDKN2A-related disorder
β
β
ββ2026β Residue 4
NM_000077.5(CDKN2A):c.334C>G (p.Arg112Gly)Pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma and neural system tumor syndrome
β
β
ββ2026β Residue 112
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)Pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
β
β
ββ2026β Residue 81
NM_058195.4(CDKN2A):c.194-3653G>TPathogenic
not provided|Familial melanoma|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome|Melanoma, cutaneous malignant, susceptibility to, 2|Ovarian neoplasm;Melanoma|Melanoma and neural system tumor syndrome|CDKN2A-related disorder
β
β
ββ2026
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|not provided|Familial melanoma|Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome|Melanoma and neural system tumor syndrome
β
β
ββ2026β Residue 24
NM_000077.5(CDKN2A):c.159G>C (p.Met53Ile)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Hereditary cancer-predisposing syndrome|not provided|Familial melanoma|Melanoma and neural system tumor syndrome|CDKN2A-related disorder|Melanoma-pancreatic cancer syndrome
β
β
ββ2026β Residue 53
NM_000077.5(CDKN2A):c.167G>T (p.Ser56Ile)Pathogenic
Melanoma, cutaneous malignant, susceptibility to, 2|Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|Melanoma-pancreatic cancer syndrome
β
β
ββ2026β Residue 56
NM_000077.5(CDKN2A):c.149A>C (p.Gln50Pro)Likely pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
β
β
ββ2026β Residue 50
NM_000077.5(CDKN2A):c.335_337dup (p.Arg112dup)Pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|not provided|Melanoma and neural system tumor syndrome
β
β
ββ2026β Residue 112
NM_000077.5(CDKN2A):c.458-105A>GPathogenic
Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|Melanoma, cutaneous malignant, susceptibility to, 2|Melanoma and neural system tumor syndrome|Melanoma-pancreatic cancer syndrome|Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome;Melanoma-pancreatic cancer syndrome|Malignant tumor of esophagus
β
β
ββ2025
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)Pathogenic
Familial melanoma|Hereditary cancer-predisposing syndrome|Melanoma-pancreatic cancer syndrome|not provided|Melanoma and neural system tumor syndrome
β
β
ββ2025β Residue 153
NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile)Pathogenic
Familial melanoma|Hereditary cancer-predisposing syndrome|not provided|Melanoma and neural system tumor syndrome
β
β
ββ2025β Residue 53
NM_000077.5(CDKN2A):c.44G>A (p.Trp15Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
β
β
ββ2025β Residue 15
NM_000077.5(CDKN2A):c.146T>G (p.Ile49Ser)Pathogenic
not provided|Familial melanoma|Melanoma-pancreatic cancer syndrome|Hereditary cancer-predisposing syndrome|Melanoma and neural system tumor syndrome
β
β
ββ2025β Residue 49
NM_000077.5(CDKN2A):c.106dup (p.Ala36fs)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome
β
β
ββ2025β Residue 36
NM_000077.5(CDKN2A):c.330G>A (p.Trp110Ter)Pathogenic
Lip and oral cavity carcinoma|Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome|Neoplasm
β
β
ββ2025β Residue 110
NM_000077.5(CDKN2A):c.296G>C (p.Arg99Pro)Likely pathogenic
Hereditary cancer-predisposing syndrome|Familial melanoma|Melanoma-pancreatic cancer syndrome;Melanoma, cutaneous malignant, susceptibility to, 2;Melanoma and neural system tumor syndrome|not provided
β
β
ββ2025β Residue 99