NM_005188.4(CBL):c.1259G>T (p.Arg420Leu)Likely pathogenic
RASopathy|not provided
★★☆☆2025→ Residue 420
NM_005188.4(CBL):c.1228-2A>GPathogenic
Noonan syndrome|not provided|Juvenile myelomonocytic leukemia|RASopathy|Malignant germ cell tumor of ovary|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|CBL-related disorder|Cardiovascular phenotype
★★☆☆2025
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)Pathogenic
not specified|Noonan syndrome 1|CBL-related disorder|Neurodevelopmental disorder|RASopathy
★★☆☆2025→ Residue 371
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)Pathogenic
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|not provided|RASopathy|Juvenile myelomonocytic leukemia;CBL-related disorder|See cases|CBL-related disorder|Juvenile myelomonocytic leukemia|Cardiovascular phenotype|Pilocytic astrocytoma
★★☆☆2025→ Residue 371
NM_005188.4(CBL):c.1096-1G>TPathogenic
not provided|Noonan syndrome|RASopathy|Fragile site 11b;CBL-related disorder|CBL-related disorder|Cardiovascular phenotype|Glioma susceptibility 1
★★☆☆2025
NM_005188.4(CBL):c.1112A>G (p.Tyr371Cys)Pathogenic
Juvenile myelomonocytic leukemia|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|not provided|RASopathy
★★☆☆2025→ Residue 371
NM_005188.4(CBL):c.1099_1101del (p.Gln367del)Pathogenic
CBL-related disorder|not provided
★★☆☆2025→ Residue 367
NM_005188.4(CBL):c.1096-1G>CPathogenic
Noonan syndrome|Inborn genetic diseases|Noonan syndrome-like disorder with juvenile myelomonocytic leukemia|RASopathy|Juvenile myelomonocytic leukemia;CBL-related disorder|not provided|Acute myeloid leukemia
★★☆☆2025
NM_005188.4(CBL):c.1112A>C (p.Tyr371Ser)Pathogenic
Juvenile myelomonocytic leukemia;CBL-related disorder|RASopathy|not provided|Pilocytic astrocytoma
★★☆☆2024→ Residue 371
NM_005188.4(CBL):c.1111T>G (p.Tyr371Asp)Pathogenic
RASopathy|not provided|CBL-related disorder
★★☆☆2024→ Residue 371
NM_005188.4(CBL):c.1166A>C (p.Lys389Thr)Pathogenic
Inborn genetic diseases|not provided
★★☆☆2024→ Residue 389
NM_005188.4(CBL):c.1100A>G (p.Gln367Arg)Likely pathogenic
RASopathy|Noonan syndrome and Noonan-related syndrome|not provided
★★☆☆2024→ Residue 367
NM_005188.4(CBL):c.1096-4_1096-1delPathogenic
CBL-related disorder|RASopathy|Noonan syndrome
★★☆☆2024
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)Pathogenic
not provided|RASopathy|CBL-related disorder|Inborn genetic diseases|Noonan syndrome and Noonan-related syndrome|Noonan syndrome
★★☆☆2023→ Residue 367
NM_005188.4(CBL):c.1096-2A>TPathogenic
CBL-related disorder|Acute myeloid leukemia|Neoplasm
★★☆☆2022
NM_005188.4(CBL):c.1192C>A (p.His398Asn)Likely pathogenic
RASopathy
★☆☆☆2025→ Residue 398
NM_005188.4(CBL):c.1237G>T (p.Gly413Cys)Likely pathogenic
not provided
★☆☆☆2025→ Residue 413
NM_005188.4(CBL):c.1103_1108del (p.Tyr368_Glu369del)Pathogenic
not provided
★☆☆☆2025→ Residue 368
NM_005188.4(CBL):c.1221_1227+20delPathogenic
not provided
★☆☆☆2024
NM_005188.4(CBL):c.1228-2A>CLikely pathogenic
not provided
★☆☆☆2023