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: 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
dbSNP: rs28934872
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 1998 2013
dbSNP: rs45517150
rs45517150
TSC2
1.000 0.120 16 2060655 intron variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 5 1999 2015
dbSNP: rs45517411
rs45517411
PKD1 ; TSC2
1.000 0.120 16 2088286 stop gained G/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 5 1997 2015
dbSNP: rs137854128
rs137854128
TSC2
1.000 0.120 16 2074295 inframe deletion TCA/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 4 2005 2011
dbSNP: rs137854261
rs137854261
TSC2
1.000 0.120 16 2086791 inframe deletion AAG/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 4 2007 2013
dbSNP: rs137854331
rs137854331
TSC2
1.000 0.120 16 2086369 inframe deletion CAT/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 4 1998 2013
dbSNP: rs397514914
rs397514914
TSC2
1.000 0.120 16 2071534 missense variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2010 2017
dbSNP: rs45451199
rs45451199
TSC2
1.000 0.120 16 2060669 splice acceptor variant G/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 4 1998 2007
dbSNP: rs45486196
rs45486196
TSC2
1.000 0.120 16 2071924 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 1999 2011
dbSNP: rs45487291
rs45487291
TSC2
1.000 0.120 16 2088046 splice acceptor variant A/C;G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 4 1999 2007
dbSNP: rs45502196
rs45502196
TSC2
1.000 0.120 16 2072847 splice acceptor variant A/C;G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 4 1999 2017
dbSNP: rs45516293
rs45516293
TSC2
0.925 0.120 16 2084965 missense variant A/C;G snv
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 4 2001 2013