TSC2, TSC complex subunit 2, 7249

N. diseases: 72; N. variants: 287
Disease: Tuberous Sclerosis ×
Source: CURATED ×
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: rs45507199
rs45507199 		0.925 0.120 16 2088294 missense variant G/A;C;T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 9 1998 2016
dbSNP: rs45517258
rs45517258 		0.925 0.120 16 2076141 missense variant C/G;T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 9 1998 2015
dbSNP: rs45516293
rs45516293 		0.925 0.120 16 2084965 missense variant A/C;G snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 2001 2013
dbSNP: rs45517308
rs45517308 		0.925 0.120 16 2081734 stop gained C/A;G;T snv 8.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 4 2001 2017
dbSNP: rs137854052
rs137854052 		1.000 0.120 16 2058765 frameshift variant -/C delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 2 2001 2001
dbSNP: rs137854106
rs137854106 		1.000 0.120 16 2079357 frameshift variant A/- delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 2 2001 2001
dbSNP: rs1567533189
rs1567533189 		0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs45517115
rs45517115 		1.000 0.120 16 2055518 stop gained C/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 1 2002 2002
dbSNP: rs45517201
rs45517201 		1.000 0.120 16 2070531 missense variant T/C snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs137854218
rs137854218 		0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs137854329
rs137854329 		1.000 0.120 16 2085238 frameshift variant -/T delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs45460895
rs45460895 		1.000 0.120 16 2055520 splice donor variant G/A snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs45483392
rs45483392 		0.925 0.120 16 2087897 missense variant C/A;T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs45488500
rs45488500 		1.000 0.120 16 2054441 splice donor variant G/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs45517169
rs45517169 		0.925 0.120 16 2062982 stop gained C/T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0
dbSNP: rs45517382
rs45517382 		0.925 0.120 16 2086834 missense variant A/G snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0