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: 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: rs1060499647
rs1060499647
TSC2
1.000 0.120 16 2064410 frameshift variant C/- del
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
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: rs1060500914
rs1060500914
TSC2
1.000 0.120 16 2076087 frameshift variant TCTG/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		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: rs1060500931
rs1060500931
TSC2
0.925 0.120 16 2064302 stop gained C/T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1060500934
rs1060500934
TSC2
1.000 0.120 16 2071845 frameshift variant C/- delins
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1060500938
rs1060500938
TSC2
1.000 0.120 16 2074383 frameshift variant CT/- del
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1060500950
rs1060500950
TSC2
1.000 0.120 16 2086833 frameshift variant AATGACT/- del
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1060500972
rs1060500972
TSC2
1.000 0.120 16 2085027 splice donor variant G/A;T snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1064796970
rs1064796970
TSC2
1.000 0.120 16 2086818 missense variant G/A snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1114167459
rs1114167459
TSC2
16 2081761 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167460
rs1114167460
TSC2
16 2088045 splice acceptor variant CA/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167461
rs1114167461
TSC2
16 2079157 frameshift variant -/GATACGTC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167462
rs1114167462
TSC2
1.000 0.120 16 2062533 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167463
rs1114167463
TSC2
16 2074235 frameshift variant -/AC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167465
rs1114167465
TSC2
16 2056746 stop gained G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1114167466
rs1114167466
TSC2
16 2065517 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: 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: rs1131691965
rs1131691965
TSC2
0.882 0.200 16 2074394 splice region variant G/C snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs1131691965
rs1131691965
TSC2
0.882 0.200 16 2074394 splice region variant G/C snv
CUI: C1860707
Disease: TUBEROUS SCLEROSIS 2 (disorder)
TUBEROUS SCLEROSIS 2 (disorder) 		0.700 0
dbSNP: rs1131691965
rs1131691965
TSC2
0.882 0.200 16 2074394 splice region variant G/C snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 0