NM_004656.4(BAP1):c.1117-1G>ALikely pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome|not provided
β
β
ββ2026
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)Pathogenic
BAP1-related tumor predisposition syndrome|not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 60
NM_004656.4(BAP1):c.118C>T (p.Gln40Ter)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 40
NM_004656.4(BAP1):c.1153C>T (p.Arg385Ter)Pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β
β
ββ2026β Residue 385
NM_004656.4(BAP1):c.581-2A>GPathogenic
BAP1-related tumor predisposition syndrome|not provided
β
β
ββ2025
NM_004656.4(BAP1):c.1835del (p.Lys612fs)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 612
NM_004656.4(BAP1):c.1063C>T (p.Gln355Ter)Pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β
β
ββ2025β Residue 355
NM_004656.4(BAP1):c.510dup (p.Val171fs)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 171
NM_004656.4(BAP1):c.458del (p.Pro153fs)Pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β
β
ββ2025β Residue 153
NM_004656.4(BAP1):c.1690del (p.Leu564fs)Pathogenic
BAP1-related tumor predisposition syndrome
β
β
ββ2025β Residue 564
NM_004656.4(BAP1):c.1777C>T (p.Gln593Ter)Pathogenic
not provided|BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 593
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome;Melanoma, uveal, susceptibility to, 2;Kury-Isidor syndrome
β
β
ββ2025β Residue 646
NM_004656.4(BAP1):c.375+1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome|Clear cell carcinoma of kidney|BAP1-related tumor predisposition syndrome
β
β
ββ2025
NM_004656.4(BAP1):c.1464del (p.Ser489fs)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 489
NM_004656.4(BAP1):c.1375del (p.Leu459fs)Pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β
β
ββ2025β Residue 459
NM_004656.4(BAP1):c.437+1G>TPathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025
NM_004656.4(BAP1):c.1975A>T (p.Lys659Ter)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 659
NM_004656.4(BAP1):c.1203_1214del (p.Tyr401_Glu405delinsTer)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 401
NM_004656.4(BAP1):c.123-10_129delLikely pathogenic
Hereditary cancer-predisposing syndrome|BAP1-related tumor predisposition syndrome
β
β
ββ2025
NM_004656.4(BAP1):c.639dup (p.Ile214fs)Pathogenic
BAP1-related tumor predisposition syndrome|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 214