NM_000143.4(FH):c.1108+1G>TPathogenic
not provided|Hereditary cancer-predisposing syndrome|FH-related disorder|Hereditary leiomyomatosis and renal cell cancer
β
β
ββ2026
NM_000143.4(FH):c.322C>T (p.Gln108Ter)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|Cutaneous leiomyoma;Uterine leiomyoma|not provided|Fumarase deficiency
β
β
ββ2026β Residue 108
NM_000143.4(FH):c.912_918del (p.Phe305fs)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|not provided|Hereditary cancer-predisposing syndrome|Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer;Fumarase deficiency
β
β
ββ2026β Residue 305
NM_000143.4(FH):c.478A>G (p.Arg160Gly)Pathogenic
Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026β Residue 160
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer
β
β
ββ2026β Residue 343
NM_000143.4(FH):c.521C>G (p.Pro174Arg)Pathogenic
Fumarase deficiency|not provided|Hereditary cancer-predisposing syndrome|FH-related disorder|Hereditary leiomyomatosis and renal cell cancer;Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer
β
β
ββ2026β Residue 174
NM_000143.4(FH):c.700A>G (p.Thr234Ala)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency
β
β
ββ2026β Residue 234
NM_000143.4(FH):c.404A>G (p.His135Arg)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Hereditary leiomyomatosis and renal cell cancer
β
β
ββ2026β Residue 135
NM_000143.4(FH):c.634C>T (p.Gln212Ter)Pathogenic
not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 212
NM_000143.4(FH):c.379-2A>TPathogenic
Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026
NM_000143.4(FH):c.301C>T (p.Arg101Ter)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome|not provided|Fumarase deficiency
β
β
ββ2026β Residue 101
NM_000143.4(FH):c.1391-269A>GPathogenic
not provided|Hereditary cancer-predisposing syndrome
β
β
ββ2026
NM_000143.4(FH):c.1020T>A (p.Asn340Lys)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|FH-related disorder|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer
β
β
ββ2026β Residue 340
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)Pathogenic
not provided|Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|Hereditary cancer-predisposing syndrome|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer
β
β
ββ2026β Residue 397
NM_000143.4(FH):c.905-2A>CPathogenic
not provided|Fumarase deficiency
β
β
ββ2026
NM_000143.4(FH):c.1390+1G>TPathogenic
not provided|Hereditary cancer-predisposing syndrome|Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer
β
β
ββ2026
NM_000143.4(FH):c.273dup (p.Val92fs)Pathogenic
Hereditary cancer-predisposing syndrome|not provided
β
β
ββ2026β Residue 92
NM_000143.4(FH):c.1293del (p.Glu432fs)Pathogenic
not provided|Fumarase deficiency|Hereditary leiomyomatosis and renal cell cancer|Hereditary cancer-predisposing syndrome
β
β
ββ2026β Residue 432
NM_000143.4(FH):c.698G>A (p.Arg233His)Pathogenic
Hereditary leiomyomatosis and renal cell cancer|Fumarase deficiency|not provided|Hereditary cancer-predisposing syndrome|See cases|Fumarase deficiency;Hereditary leiomyomatosis and renal cell cancer|Spinocerebellar ataxia 45
β
β
ββ2026β Residue 233
NM_000143.4(FH):c.1093A>G (p.Ser365Gly)Pathogenic
not provided|Hereditary cancer-predisposing syndrome|Hereditary leiomyomatosis and renal cell cancer
β
β
ββ2026β Residue 365