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: rs397515020
rs397515020
NTHL1 ; TSC2
1.000 0.120 16 2048658 frameshift variant T/-;TT delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2006 2006
dbSNP: rs137854117
rs137854117
NTHL1 ; TSC2
1.000 0.120 16 2048750 splice donor variant AGAG/-;AG delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs137854360
rs137854360
NTHL1 ; TSC2
1.000 0.120 16 2048747 frameshift variant CTGA/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C4225157
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3
FAMILIAL ADENOMATOUS POLYPOSIS 3 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.700 0
dbSNP: rs45512692
rs45512692
NTHL1 ; TSC2
1.000 0.120 16 2048649 stop gained A/T snv 4.0E-06
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 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: 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: 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: 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: 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: 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: rs45517412
rs45517412
PKD1 ; TSC2
0.882 0.200 16 2088293 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2005 2013
dbSNP: rs137854397
rs137854397
PKD1 ; TSC2
1.000 0.120 16 2088312 splice donor variant GCCAGCGGGTAGGGAATATGGGGCTCC/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 3 2001 2014
dbSNP: rs137854317
rs137854317
PKD1 ; TSC2
1.000 0.120 16 2088324 splice donor variant G/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 2 1999 2007
dbSNP: rs1567135103
rs1567135103
PKD1 ; TSC2
1.000 0.120 16 2088579 stop lost CCTCGGTGGAGGACTTCACCGAGTTTGTGTGAGGCCGGGGCCCTCCCTCCTGCACTGGCCTTGGACGGTATTGCCTGTCAGTGAAATAA/- del
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2015 2015
dbSNP: rs45472701
rs45472701
PKD1 ; TSC2
1.000 0.120 16 2088236 stop gained C/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 1998 1998
dbSNP: rs1060499676
rs1060499676
PKD1 ; TSC2
1.000 0.120 16 2088234 stop gained C/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1114167468
rs1114167468
PKD1 ; TSC2
16 2088225 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs137854218
rs137854218
PKD1 ; TSC2
0.925 0.120 16 2088293 inframe insertion CATCAAGCGGCTCCGCCA/-;CATCAAGCGGCTCCGCCACATCAAGCGGCTCCGCCA delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 0