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: 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: rs767671406
rs767671406
MPRIP ; FLCN
1.000 0.080 17 17216506 splice region variant GGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2000 2017
dbSNP: rs786203218
rs786203218
FLCN
0.925 0.080 17 17224069 inframe deletion AAG/- delins 4.0E-06 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 2008 2016
dbSNP: rs776896550
rs776896550
FLCN
1.000 0.080 17 17226224 frameshift variant -/T delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2008 2013
dbSNP: rs879255678
rs879255678
MPRIP ; FLCN
0.827 0.240 17 17215188 stop gained G/A snv 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 6 2005 2017
dbSNP: rs1064793128
rs1064793128
MPRIP ; FLCN
1.000 0.080 17 17215237 frameshift variant GA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2005 2016
dbSNP: rs587782069
rs587782069
FLCN
0.925 0.120 17 17224041 stop gained G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 5 2013 2018
dbSNP: rs137852929
rs137852929
MPRIP ; FLCN
0.925 0.080 17 17215228 stop gained G/A;C;T snv 6.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2002 2013
dbSNP: rs398124541
rs398124541
FLCN
1.000 0.080 17 17219188 frameshift variant TTCT/- delins 8.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2008 2016
dbSNP: rs878855217
rs878855217
FLCN
1.000 0.080 17 17223956 frameshift variant C/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 4 2005 2012
dbSNP: rs1131690832
rs1131690832
FLCN
17 17219018 splice donor variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2005 2018
dbSNP: rs1131690838
rs1131690838
FLCN
0.925 0.120 17 17228135 frameshift variant C/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2006 2016
dbSNP: rs758175953
rs758175953
FLCN
0.827 0.240 17 17222500 splice donor variant C/A;G snv 1.6E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 3 2008 2012
dbSNP: rs1131690826
rs1131690826
FLCN
1.000 0.040 17 17221628 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2008 2012
dbSNP: rs398124534
rs398124534
FLCN
1.000 0.080 17 17226276 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2005 2008
dbSNP: rs398124542
rs398124542
FLCN
0.925 0.080 17 17219126 frameshift variant -/GTACTCTCTGGCAACACAGGGGCTTTCT delins 4.0E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2011 2016
dbSNP: rs755959303
rs755959303
MPRIP ; FLCN
1.000 0.080 17 17215184 splice donor variant C/G;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2008 2016
dbSNP: rs786202541
rs786202541
MPRIP ; FLCN
17 17216465 stop gained G/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2008 2017
dbSNP: rs864622651
rs864622651
MPRIP ; FLCN
1.000 0.080 17 17216428 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2008 2014
dbSNP: rs879255677
rs879255677
MPRIP ; FLCN
1.000 0.080 17 17215282 frameshift variant -/GCGGCTGCGTGGACCTC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 2008 2011
dbSNP: rs1060502368
rs1060502368
FLCN
1.000 0.080 17 17219060 frameshift variant G/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2005 2005
dbSNP: rs1131690830
rs1131690830
FLCN
17 17219067 frameshift variant C/- delins 7.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2005 2005
dbSNP: rs1131690835
rs1131690835
MPRIP ; FLCN
17 17215190 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2005 2005
dbSNP: rs1131690840
rs1131690840
FLCN
1.000 0.080 17 17222662 splice acceptor variant C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2008 2008
dbSNP: rs398124524
rs398124524
MPRIP ; FLCN
1.000 0.080 17 17217128 stop gained G/A;T snv 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 2012 2012