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: 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: 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: 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: 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: rs1567386603
rs1567386603
TSC2
1.000 0.120 16 2050399 splice acceptor variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 3 1999 2014
dbSNP: rs1567387207
rs1567387207
TSC2
0.882 0.200 16 2050487 splice donor variant G/A snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 0
dbSNP: rs1567387207
rs1567387207
TSC2
0.882 0.200 16 2050487 splice donor variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1567387207
rs1567387207
TSC2
0.882 0.200 16 2050487 splice donor variant G/A snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs45517096
rs45517096
TSC2
1.000 0.120 16 2053340 splice acceptor variant A/G snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2007 2007
dbSNP: rs1567394860
rs1567394860
TSC2
1.000 0.120 16 2053362 stop gained G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2015 2015
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: rs45517099
rs45517099
TSC2
1.000 0.120 16 2053384 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 1999 2006
dbSNP: rs45517102
rs45517102
TSC2
1.000 0.120 16 2053453 splice donor variant G/A;C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 3 1999 2007
dbSNP: rs45517105
rs45517105
TSC2
1.000 0.120 16 2054295 splice acceptor variant G/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1567398983
rs1567398983
TSC2
1.000 0.120 16 2054304 frameshift variant T/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1131691602
rs1131691602
TSC2
1.000 0.120 16 2054317 stop gained A/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs876658878
rs876658878
TSC2
16 2054317 frameshift variant AG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1060500924
rs1060500924
TSC2
1.000 0.120 16 2054380 stop gained G/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1555497690
rs1555497690
TSC2
1.000 0.120 16 2054399 missense variant C/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2017 2017