NM_001018113.3(FANCB):c.851del (p.Pro284fs)Pathogenic
FANCB-related disorder|Fanconi anemia
β
β
ββ2023β Residue 284
NM_001018113.3(FANCB):c.781C>T (p.Arg261Ter)Pathogenic
Fanconi anemia|Fanconi anemia complementation group B
β
β
ββ2023β Residue 261
NM_001018113.3(FANCB):c.101del (p.Asp34fs)Pathogenic
not provided
β
βββ2025β Residue 34
NM_001018113.3(FANCB):c.1857_1858del (p.Arg619fs)Pathogenic
Fanconi anemia complementation group B|not provided
β
βββ2025β Residue 619
NM_001018113.3(FANCB):c.1570C>T (p.Gln524Ter)Likely pathogenic
Fanconi anemia complementation group B
β
βββ2023β Residue 524
NM_001018113.3(FANCB):c.455_458del (p.Phe152fs)Pathogenic
Fanconi anemia
β
βββ2023β Residue 152
NM_001018113.3(FANCB):c.195dup (p.Thr66fs)Pathogenic
Fanconi anemia complementation group B
β
βββ2023β Residue 66
NM_001018113.3(FANCB):c.972del (p.Lys324fs)Likely pathogenic
Fanconi anemia complementation group B
β
βββ2023β Residue 324
NM_001018113.3(FANCB):c.1159_1162dup (p.Tyr388fs)Pathogenic
Fanconi anemia
β
βββ2023β Residue 388
NM_001018113.3(FANCB):c.1105-2A>GLikely pathogenic
FANCB-related disorder
β
βββ2022
NM_001018113.3(FANCB):c.1437G>A (p.Trp479Ter)Pathogenic
Fanconi anemia
β
βββ2020β Residue 479
NM_001018113.3(FANCB):c.1668del (p.Asp557fs)Pathogenic
not provided|Fanconi anemia complementation group B
β
βββ2020β Residue 557
NC_000023.11:g.(?_14857852)_(14859344_?)delLikely pathogenic
Fanconi anemia
β
βββ2018
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)Likely pathogenic
Fanconi anemia
β
βββ2016β Residue 79
NM_001018113.3(FANCB):c.1695_1698del (p.Cys566fs)Pathogenic
not provided
β
βββ2015β Residue 566
NM_001018113.3(FANCB):c.1811_1814del (p.Arg604fs)Pathogenic
Fanconi anemia complementation group B
ββββ2020β Residue 604
NM_001018113.3(FANCB):c.1103C>A (p.Ser368Ter)Pathogenic
Fanconi anemia complementation group B
ββββ2020β Residue 368
NM_001018113.3(FANCB):c.986T>C (p.Leu329Pro)Pathogenic
Fanconi anemia complementation group B
ββββ2020β Residue 329
NM_001018113.3(FANCB):c.949C>T (p.Gln317Ter)Pathogenic
Fanconi anemia complementation group B
ββββ2020β Residue 317
NM_001018113.3(FANCB):c.829dup (p.Cys277fs)Pathogenic
Fanconi anemia complementation group B
ββββ2020β Residue 277