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: rs137854312
rs137854312
TSC2
1.000 0.120 16 2084661 frameshift variant -/A delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2006 2006
dbSNP: rs137854359
rs137854359
TSC2
1.000 0.120 16 2055488 stop gained -/A delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 1999 1999
dbSNP: rs1567408314
rs1567408314
TSC2
1.000 0.120 16 2056677 stop gained -/A delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs1114167463
rs1114167463
TSC2
16 2074235 frameshift variant -/AC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs397515009
rs397515009
TSC2
1.000 0.120 16 2084368 frameshift variant -/AGCAAGTCCAGCTCCTC delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs137854052
rs137854052
TSC2
1.000 0.120 16 2058765 frameshift variant -/C delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 2 2001 2001
dbSNP: rs137854020
rs137854020
TSC2
1.000 0.120 16 2057160 frameshift variant -/C delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1555503131
rs1555503131
TSC2
1.000 0.120 16 2065525 frameshift variant -/C delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1567457100
rs1567457100
TSC2
1.000 0.120 16 2070480 frameshift variant -/CACGC delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs137854046
rs137854046
TSC2
1.000 0.120 16 2084591 frameshift variant -/G delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs1114167461
rs1114167461
TSC2
16 2079157 frameshift variant -/GATACGTC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs796053505
rs796053505
TSC2
1.000 0.120 16 2081780 frameshift variant -/T delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 2 2011 2018
dbSNP: rs137854210
rs137854210
TSC2
1.000 0.120 16 2081679 frameshift variant -/T delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2006 2006
dbSNP: rs137854329
rs137854329
TSC2
1.000 0.120 16 2085238 frameshift variant -/T delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 0
dbSNP: rs1555500535
rs1555500535
TSC2
1.000 0.120 16 2060740 frameshift variant -/T delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs878854075
rs878854075
TSC2
1.000 0.120 16 2061910 frameshift variant -/T delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs137854337
rs137854337
TSC2
1.000 0.120 16 2071892 frameshift variant -/TACT delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1555514034
rs1555514034
TSC2
1.000 0.120 16 2084355 stop gained -/TCGCAGCCCCTGAGCAAGTCCAGCTC delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1567409292
rs1567409292
TSC2
1.000 0.120 16 2056759 frameshift variant -/TT delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs137854106
rs137854106
TSC2
1.000 0.120 16 2079357 frameshift variant A/- delins
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.700 1.000 2 2001 2001
dbSNP: rs137854251
rs137854251
PKD1 ; TSC2
1.000 0.120 16 2088227 frameshift variant A/- del
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1567437492
rs1567437492
TSC2
1.000 0.120 16 2064330 frameshift variant A/- del
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs397515023
rs397515023
TSC2
1.000 0.120 16 2084693 frameshift variant A/-;AA delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 1 2011 2011
dbSNP: rs45517229
rs45517229
TSC2
1.000 0.120 16 2074198 splice acceptor variant A/C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 1.000 2 1999 2005
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