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: rs774925473
rs774925473
ATM ; C11orf65
0.925 0.200 11 108309110 intron variant A/G snv 2.4E-05 4.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1996 2017
dbSNP: rs267607749
rs267607749
MLH1
1.000 0.160 3 37008801 intron variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2007 2016
dbSNP: rs1131691067
rs1131691067
NF1
1.000 0.120 17 31203089 intron variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2000 2013
dbSNP: rs1131691066
rs1131691066
NF1
17 31201024 intron variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2000 2008
dbSNP: rs1131691154
rs1131691154
ATM
11 108268026 intron variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2012 2014
dbSNP: rs267608006
rs267608006
MSH2
2 47478262 intron variant T/A snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2007 2007
dbSNP: rs587781256
rs587781256
RB1 ; LOC112268118
1.000 0.080 13 48380087 intron variant ACTTTTAGTAAAAAATTTTTT/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs730881346
rs730881346
ATM
0.925 0.280 11 108257471 intron variant T/G snv 8.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs80358061
rs80358061
BRCA1
0.882 0.200 17 43104967 intron variant A/C snv 1.2E-05 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs80358079
rs80358079
BRCA1
0.827 0.200 17 43057147 intron variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs80358163
rs80358163
BRCA1
0.882 0.200 17 43104968 intron variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs80359013
rs80359013
BRCA2
0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 31 2002 2018
dbSNP: rs587779075
rs587779075
MSH2
0.882 0.200 2 47429830 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 2001 2016
dbSNP: rs41293465
rs41293465
BRCA1
0.851 0.200 17 43045767 stop gained G/A snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1996 2017
dbSNP: rs587779852
rs587779852
ATM ; C11orf65
0.882 0.280 11 108312424 stop gained G/T snv 4.4E-05 3.5E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1998 2018
dbSNP: rs180177132
rs180177132
PALB2
0.790 0.280 16 23621362 stop gained C/T snv 6.0E-05 2.1E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 18 2007 2017
dbSNP: rs80356898
rs80356898
BRCA1
0.752 0.200 17 43093844 stop gained G/A;C snv 2.8E-05; 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 18 1995 2018
dbSNP: rs80357123
rs80357123
BRCA1
0.827 0.200 17 43057078 stop gained G/A;C;T snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 1997 2017
dbSNP: rs80358721
rs80358721
BRCA2
0.724 0.320 13 32339320 stop gained C/A;G;R snv 4.2E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 2007 2018
dbSNP: rs63749849
rs63749849
MSH2
0.851 0.240 2 47429812 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1995 2015
dbSNP: rs74315370
rs74315370
SDHB
0.882 0.080 1 17044825 stop gained G/A;C snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 2002 2015
dbSNP: rs63750871
rs63750871
PMS2
0.882 0.200 7 6002590 stop gained G/A snv 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1995 2016
dbSNP: rs63751221
rs63751221
MLH1
0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1999 2018
dbSNP: rs80358814
rs80358814
BRCA2
0.742 0.440 13 32340212 stop gained G/T snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1996 2016
dbSNP: rs80359003
rs80359003
BRCA2
0.925 0.200 13 32357881 stop gained G/A snv 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 2003 2017