CYLD, CYLD lysine 63 deubiquitinase, 1540

N. diseases: 211; N. variants: 34
Disease: Ancell-Spiegler cylindromas ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908388
rs121908388 		0.925 0.120 16 50792627 stop gained C/T snv
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121908390
rs121908390 		0.807 0.200 16 50796443 stop gained C/G;T snv 4.0E-06
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs764952788
rs764952788 		16 50779853 stop gained C/A;T snv 1.6E-05
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040868
rs886040868 		16 50754339 frameshift variant TGGA/- delins
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040869
rs886040869 		16 50754419 frameshift variant -/C delins
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040871
rs886040871 		16 50776242 frameshift variant -/AG delins
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040872
rs886040872 		16 50777915 stop gained C/A snv 4.0E-06
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040873
rs886040873 		16 50779889 stop gained C/T snv
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040876
rs886040876 		16 50781383 frameshift variant ATCA/- delins
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040879
rs886040879 		16 50782411 stop gained A/T snv
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040882
rs886040882 		16 50786852 splice acceptor variant AGATAT/- delins
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040886
rs886040886 		16 50792595 splice acceptor variant A/G snv
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040887
rs886040887 		16 50792644 frameshift variant AACTA/- delins
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040888
rs886040888 		16 50792654 stop gained A/T snv 7.0E-06
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040890
rs886040890 		16 50792706 splice donor variant G/T snv
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040891
rs886040891 		16 50793584 frameshift variant AT/- delins
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040892
rs886040892 		16 50793601 stop gained CT/- del
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040893
rs886040893 		16 50794257 frameshift variant T/- del
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs886040894
rs886040894 		16 50794311 stop gained C/T snv
CUI: C1851526
Disease: Ancell-Spiegler cylindromas
Ancell-Spiegler cylindromas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases 0.700 0