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: rs28934575
rs28934575
TP53
0.641 0.400 17 7674230 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 30 1990 2017
dbSNP: rs80356959
rs80356959
BRCA1
0.851 0.200 17 43045761 missense variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 24 1996 2017
dbSNP: rs63750217
rs63750217
MLH1
0.807 0.240 3 37048955 missense variant G/A;C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 23 1996 2017
dbSNP: rs80357522
rs80357522
BRCA1
0.776 0.280 17 43093570 frameshift variant TTTT/-;TT;TTT;TTTTT delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 23 1995 2017
dbSNP: rs80357914
rs80357914
BRCA1 ; NBR2
0.827 0.200 17 43124028 frameshift variant CT/-;CTCT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 23 1995 2017
dbSNP: rs41293511
rs41293511
BRCA2
0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 22 2001 2018
dbSNP: rs121909229
rs121909229
PTEN
0.683 0.400 10 87933148 missense variant G/A;C;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1998 2017
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: rs80357662
rs80357662
BRCA1
0.925 0.200 17 43093975 frameshift variant T/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2016
dbSNP: rs80359306
rs80359306
BRCA2
0.827 0.280 13 32333284 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 21 1996 2017
dbSNP: rs80338682
rs80338682
MPRIP ; FLCN
0.925 0.080 17 17216395 frameshift variant G/-;GG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 20 2002 2019
dbSNP: rs398123481
rs398123481
VHL
1.000 0.120 3 10142103 missense variant C/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1994 2016
dbSNP: rs80357446
rs80357446
BRCA1
0.827 0.200 17 43115729 missense variant C/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 2001 2017
dbSNP: rs80359507
rs80359507
BRCA2
0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 19 1997 2016
dbSNP: rs28929483
rs28929483
MSH2
0.925 0.160 2 47475130 missense variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 18 1993 2017
dbSNP: rs55863639
rs55863639
TP53
1.000 0.120 17 7675994 splice region variant C/A;G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 18 1989 2015
dbSNP: rs81002836
rs81002836
BRCA2
0.851 0.200 13 32362521 splice acceptor variant A/G;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 17 1999 2016
dbSNP: rs267607767
rs267607767
MLH1
0.925 0.160 3 37012009 splice acceptor variant A/C;G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1995 2016
dbSNP: rs267608078
rs267608078
MSH6 ; FBXO11
0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1997 2017
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: rs80358344
rs80358344
BRCA1
0.925 0.200 17 43067618 inframe deletion ACA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1996 2016
dbSNP: rs80359152
rs80359152
BRCA2
0.851 0.200 13 32379800 missense variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 2006 2018
dbSNP: rs80359460
rs80359460
BRCA2
0.925 0.200 13 32338982 frameshift variant A/-;AA delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 16 1999 2016
dbSNP: rs587776650
rs587776650
NBN
0.790 0.280 8 89971214 frameshift variant GTTTT/- delins 2.0E-04
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 2000 2017
dbSNP: rs63750303
rs63750303
MLH1
0.882 0.160 3 37014485 missense variant G/A;T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 15 1997 2014