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: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		0.700 0
dbSNP: rs773920155
rs773920155
TSC2
0.925 0.120 16 2061946 stop gained G/A;T snv 4.0E-06
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		0.700 0
dbSNP: rs1567533189
rs1567533189
TSC2
0.925 0.160 16 2086283 frameshift variant AAGGACTGCCA/- del
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs796053483
rs796053483
TSC2
1.000 0.040 16 2060775 missense variant C/G snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.700 1.000 1 2019 2019
dbSNP: rs1045675831
rs1045675831
PKD1 ; TSC2 ; MIR1225 ; LOC105371049
1.000 0.120 16 2089927 stop gained G/A;C snv
CUI: C0085548
Disease: Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease 		0.700 1.000 1 2015 2015
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: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.700 0
dbSNP: rs1567489890
rs1567489890
TSC2
1.000 0.120 16 2077476 non coding transcript exon variant G/A snv
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		0.700 0
dbSNP: rs747237113
rs747237113
TSC2
16 2058784 missense variant G/A snv 4.6E-06 7.0E-06
CUI: C1968959
Disease: Cortical tubers
Cortical tubers 		0.700 0
dbSNP: rs45517403
rs45517403
TSC2
1.000 0.040 16 2088143 missense variant A/C;G snv
CUI: C1860711
Disease: Dental enamel pits
Dental enamel pits 		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: 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: 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: rs1567437155
rs1567437155
TSC2
0.882 0.200 16 2064286 frameshift variant C/- del
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs28934872
rs28934872
TSC2
0.851 0.200 16 2070571 missense variant G/A snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs45469298
rs45469298
TSC2
0.851 0.200 16 2070570 missense variant C/G;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs45517179
rs45517179
TSC2
0.882 0.200 16 2064341 stop gained C/G;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs45517222
rs45517222
TSC2
0.882 0.200 16 2072879 stop gained C/T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs45517395
rs45517395
TSC2
0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs45517412
rs45517412
PKD1 ; TSC2
0.882 0.200 16 2088293 missense variant C/G;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0
dbSNP: rs45517403
rs45517403
TSC2
1.000 0.040 16 2088143 missense variant A/C;G snv
CUI: C0018552
Disease: Hamartoma
Hamartoma 		0.700 0
dbSNP: rs45514095
rs45514095
TSC2
0.925 0.160 16 2085323 splice donor variant G/A snv
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		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: rs1131691965
rs1131691965
TSC2
0.882 0.200 16 2074394 splice region variant G/C 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: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		0.700 0