NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)Pathogenic
Fanconi anemia|not provided|Spermatogenic failure 28|Premature ovarian failure 15|Fanconi anemia complementation group A|Familial cancer of breast|Male infertility with spermatogenesis disorder|FANCM-related disorder|Spermatogenic failure 28;Premature ovarian failure 15
★★☆☆2026→ Residue 1701
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)Pathogenic
Fanconi anemia|Spermatogenic failure 28|Malignant germ cell tumor of ovary|Familial cancer of breast|not provided|Azoospermia|not specified|Hereditary nonpolyposis colorectal carcinoma|Premature ovarian failure 15|Premature ovarian failure 15;Spermatogenic failure 28
★★☆☆2026→ Residue 1931
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs)Pathogenic
not provided|Fanconi anemia|Spermatogenic failure 28|Hereditary cancer-predisposing syndrome|FANCM-related disorder|Premature ovarian failure 15;Spermatogenic failure 28
★★☆☆2026→ Residue 863
NM_020937.4(FANCM):c.1491dup (p.Gln498fs)Pathogenic
not provided|Spermatogenic failure 28|Fanconi anemia|Male infertility with azoospermia or oligozoospermia due to single gene mutation|Spermatogenic failure 28;Premature ovarian failure 15
★★☆☆2025→ Residue 498
NM_020937.4(FANCM):c.1581+1G>ALikely pathogenic
Fanconi anemia|not provided
★★☆☆2025
NM_020937.4(FANCM):c.4270C>T (p.Arg1424Ter)Pathogenic
Fanconi anemia|not provided
★★☆☆2025→ Residue 1424
NM_020937.4(FANCM):c.1798C>T (p.Gln600Ter)Pathogenic
Fanconi anemia|not provided
★★☆☆2025→ Residue 600
NM_020937.4(FANCM):c.5201del (p.Thr1734fs)Pathogenic
Fanconi anemia|not provided
★★☆☆2025→ Residue 1734
NM_020937.4(FANCM):c.3088C>T (p.Arg1030Ter)Pathogenic
Fanconi anemia|not provided|FANCM-related disorder|Premature ovarian failure 15
★★☆☆2025→ Residue 1030
NM_020937.4(FANCM):c.1213C>T (p.Arg405Ter)Pathogenic
Fanconi anemia|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 405
NM_020937.4(FANCM):c.4401del (p.Ser1468fs)Pathogenic
Fanconi anemia|not provided
★★☆☆2025→ Residue 1468
NM_020937.4(FANCM):c.3898G>T (p.Glu1300Ter)Pathogenic
not provided|Fanconi anemia
★★☆☆2025→ Residue 1300
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter)Pathogenic
not provided|Fanconi anemia|Spermatogenic failure 28|Hereditary cancer-predisposing syndrome|Spermatogenic failure 28;Premature ovarian failure 15|FANCM-related disorder
★★☆☆2025→ Residue 658
NM_020937.4(FANCM):c.1456C>T (p.Arg486Ter)Pathogenic
Fanconi anemia|not provided|Hereditary cancer-predisposing syndrome
★★☆☆2025→ Residue 486
NM_020937.4(FANCM):c.2832_2839delinsAATATTCAATTATATTATTACATTGTTCCAGTGATATTCTTTTATACCTTAT (p.Gly945_Asn947delinsIlePheAsnTyrIleIleThrLeuPheGlnTer)Pathogenic
not provided|Fanconi anemia
★★☆☆2025→ Residue 945
NM_020937.4(FANCM):c.4005dup (p.Val1336fs)Pathogenic
Fanconi anemia|not provided
★★☆☆2025→ Residue 1336
NM_020937.4(FANCM):c.3235_3238del (p.Leu1080fs)Pathogenic
Fanconi anemia|not provided
★★☆☆2025→ Residue 1080
NM_020937.4(FANCM):c.3979_3980del (p.Gln1327fs)Pathogenic
Fanconi anemia|not provided
★★☆☆2025→ Residue 1327
NM_020937.4(FANCM):c.1879C>T (p.Arg627Ter)Pathogenic
Fanconi anemia|not provided|FANCM-related disorder
★★☆☆2025→ Residue 627
NM_020937.4(FANCM):c.4101dup (p.Val1368fs)Pathogenic
Fanconi anemia|not provided
★★☆☆2025→ Residue 1368