Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs28934872
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 14 1996 2016
dbSNP: rs45517258
rs45517258
TSC2
0.925 0.120 16 2076141 missense variant C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 13 1996 2017
dbSNP: rs45469298
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 12 1996 2017
dbSNP: rs45438205
rs45438205
TSC2
0.925 0.120 16 2080365 missense variant C/T snv 7.0E-06
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 9 1996 2017
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
0.925 0.120 16 2088294 missense variant G/A;C;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 9 1998 2017
dbSNP: rs45517259
rs45517259
TSC2
0.925 0.120 16 2076142 missense variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 9 1996 2017
dbSNP: rs45517382
rs45517382
TSC2
0.925 0.120 16 2086834 missense variant A/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 8 1996 2017
dbSNP: rs45483392
rs45483392
TSC2
0.925 0.120 16 2087897 missense variant C/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 7 1996 2017
dbSNP: rs45517393
rs45517393
TSC2
1.000 0.120 16 2088105 missense variant C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 6 1996 2013
dbSNP: rs137854882
rs137854882
TSC2
1.000 0.120 16 2087941 missense variant G/A;C;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 1.000 0 1996 2017
dbSNP: rs28934872
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.800 1.000 0 2000 2002
dbSNP: rs45517214
rs45517214
TSC2
1.000 0.120 16 2072293 missense variant T/A;G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.800 0
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
0.882 0.200 16 2088293 missense variant C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 11 1998 2016
dbSNP: rs45507199
rs45507199
PKD1 ; TSC2
0.925 0.120 16 2088294 missense variant G/A;C;T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 9 1998 2016
dbSNP: rs45517169
rs45517169
TSC2
0.925 0.120 16 2062982 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 9 1999 2017
dbSNP: rs45517258
rs45517258
TSC2
0.925 0.120 16 2076141 missense variant C/G;T snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 9 1998 2015
dbSNP: rs45517259
rs45517259
TSC2
0.925 0.120 16 2076142 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 8 1999 2015
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1998 2013
dbSNP: rs45469298
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2013
dbSNP: rs45517099
rs45517099
TSC2
1.000 0.120 16 2053384 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 7 1999 2010
dbSNP: rs137854175
rs137854175
TSC2
1.000 0.120 16 2084998 frameshift variant ACAA/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 6 1997 2011
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 6 1998 2013
dbSNP: rs45517179
rs45517179
TSC2
0.882 0.200 16 2064341 stop gained C/G;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 6 1996 2006
dbSNP: rs45517395
rs45517395
TSC2
0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 6 2007 2017
dbSNP: rs1064792923
rs1064792923
PKD1 ; TSC2
1.000 0.120 16 2088461 frameshift variant TCCAACCCCAGCCTAC/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 5 1997 2015