NM_001378743.1(CYLD):c.2806C>T (p.Arg936Ter)Pathogenic
Brooke-Spiegler syndrome|Familial cylindromatosis|Familial multiple trichoepitheliomata|Familial cylindromatosis;Brooke-Spiegler syndrome;Frontotemporal dementia and/or amyotrophic lateral sclerosis 8;Trichoepithelioma, multiple familial, 1|Multiple monogenic benign skin tumours|not provided
β
β
ββ2026β Residue 936
NM_001378743.1(CYLD):c.2299A>T (p.Lys767Ter)Pathogenic
Familial cylindromatosis|Brooke-Spiegler syndrome|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8|SLC35A2-congenital disorder of glycosylation|not provided
β
β
ββ2026β Residue 767
NM_001378743.1(CYLD):c.1112C>A (p.Ser371Ter)Pathogenic
Familial cylindromatosis|not provided|Brooke-Spiegler syndrome;Familial cylindromatosis;Trichoepithelioma, multiple familial, 1|Frontotemporal dementia and/or amyotrophic lateral sclerosis 8|Brooke-Spiegler syndrome;Familial cylindromatosis;Frontotemporal dementia and/or amyotrophic lateral sclerosis 8;Trichoepithelioma, multiple familial, 1|Multiple monogenic benign skin tumours|Brooke-Spiegler syndrome
β
β
ββ2025β Residue 371
NM_001378743.1(CYLD):c.2272C>T (p.Arg758Ter)Pathogenic
Familial cylindromatosis|not specified|not provided|Brooke-Spiegler syndrome
β
β
ββ2025β Residue 758
NM_001378743.1(CYLD):c.831_834del (p.Asp277fs)Pathogenic
Familial cylindromatosis|not provided
β
β
ββ2024β Residue 277
NM_001378743.1(CYLD):c.2291_2295del (p.Lys764fs)Pathogenic
Familial cylindromatosis|Brooke-Spiegler syndrome;Familial cylindromatosis;Trichoepithelioma, multiple familial, 1|not provided
β
β
ββ2024β Residue 764
NM_001378743.1(CYLD):c.1111del (p.Ser371fs)Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8|not provided
β
β
ββ2024β Residue 371
NM_001378743.1(CYLD):c.1537dup (p.Cys513fs)Pathogenic
Brooke-Spiegler syndrome|not provided
β
β
ββ2023β Residue 513
NM_001378743.1(CYLD):c.1896T>A (p.Tyr632Ter)Pathogenic
not provided
β
βββ2026β Residue 632
NM_001378743.1(CYLD):c.2541G>A (p.Trp847Ter)Pathogenic
not provided
β
βββ2026β Residue 847
NM_001378743.1(CYLD):c.2469+1G>APathogenic
Familial cylindromatosis|not provided
β
βββ2025
NM_001378743.1(CYLD):c.1165dup (p.Thr389fs)Pathogenic
Multiple monogenic benign skin tumours
β
βββ2025β Residue 389
NM_001378743.1(CYLD):c.1774A>T (p.Lys592Ter)Pathogenic
not provided
β
βββ2025β Residue 592
NM_001378743.1(CYLD):c.1469G>A (p.Trp490Ter)Pathogenic
not provided
β
βββ2025β Residue 490
NM_001378743.1(CYLD):c.1256T>G (p.Leu419Ter)Pathogenic
not provided
β
βββ2025β Residue 419
NM_001378743.1(CYLD):c.703A>T (p.Arg235Ter)Pathogenic
not provided
β
βββ2025β Residue 235
NM_001378743.1(CYLD):c.963_970delinsATGG (p.Phe321fs)Pathogenic
not provided
β
βββ2025β Residue 321
NM_001378743.1(CYLD):c.1477C>T (p.Gln493Ter)Pathogenic
not provided
β
βββ2025β Residue 493
NM_001378743.1(CYLD):c.1950-2A>TLikely pathogenic
not provided
β
βββ2025
NM_001378743.1(CYLD):c.1660C>T (p.Gln554Ter)Pathogenic
not provided
β
βββ2025β Residue 554