NM_004064.5(CDKN1B):c.388_392del (p.Leu130fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 130
NM_004064.5(CDKN1B):c.319C>T (p.Gln107Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 107
NM_004064.5(CDKN1B):c.285dup (p.Lys96fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 96
NM_004064.5(CDKN1B):c.85dup (p.Cys29fs)Pathogenic
not provided|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 29
NM_004064.5(CDKN1B):c.460C>T (p.Arg154Ter)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 154
NM_004064.5(CDKN1B):c.179G>A (p.Trp60Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 60
NM_004064.5(CDKN1B):c.21dup (p.Asn8Ter)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 8
NM_004064.5(CDKN1B):c.320del (p.Gln107fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 107
NM_004064.5(CDKN1B):c.285del (p.Gly97fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 97
NM_004064.5(CDKN1B):c.169C>T (p.Gln57Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 57
NM_004064.5(CDKN1B):c.410del (p.Pro137fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome|Neoplasm
β
β
ββ2025β Residue 137
NM_004064.5(CDKN1B):c.99del (p.Phe33fs)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 33
NM_004064.5(CDKN1B):c.175A>T (p.Lys59Ter)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 59
NM_004064.5(CDKN1B):c.487C>T (p.Gln163Ter)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 163
NM_004064.5(CDKN1B):c.524C>G (p.Ser175Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 175
NM_004064.5(CDKN1B):c.295_305del (p.Cys99fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 99
NM_004064.5(CDKN1B):c.229C>T (p.Gln77Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|CDKN1B-related disorder|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 77
NM_004064.5(CDKN1B):c.180G>A (p.Trp60Ter)Pathogenic
Hereditary cancer-predisposing syndrome|Multiple endocrine neoplasia type 4
β
β
ββ2025β Residue 60
NM_004064.5(CDKN1B):c.13C>T (p.Arg5Ter)Pathogenic
not provided|Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2025β Residue 5
NM_004064.5(CDKN1B):c.295_305dup (p.Gln104fs)Pathogenic
Multiple endocrine neoplasia type 4|Hereditary cancer-predisposing syndrome
β
β
ββ2024β Residue 104