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: rs121913320
rs121913320
STK11
1.000 0.160 19 1221265 frameshift variant TTTG/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 1998 2005
dbSNP: rs121913320
rs121913320
STK11
1.000 0.160 19 1221265 frameshift variant TTTG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 1 1998 1998
dbSNP: rs587782424
rs587782424
STK11
1.000 0.160 19 1219346 frameshift variant TG/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 1 2010 2010
dbSNP: rs587776659
rs587776659
STK11
1.000 0.160 19 1221310 frameshift variant TG/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs587782424
rs587782424
STK11
1.000 0.160 19 1219346 frameshift variant TG/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs587776657
rs587776657
STK11
1.000 0.160 19 1220699 frameshift variant TCGG/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs587776660
rs587776660
STK11
1.000 0.160 19 1221994 inframe deletion TCCGGCAGC/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs730881958
rs730881958
STK11
19 1207047 inframe deletion TCATCGGCAAGT/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1568690546
rs1568690546
STK11
1.000 0.160 19 1207205 splice donor variant TAA/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 2004 2005
dbSNP: rs137853080
rs137853080
STK11
1.000 0.040 19 1207058 missense variant T/G snv
CUI: C0025202
Disease: melanoma
melanoma 		0.800 0
dbSNP: rs137853077
rs137853077
STK11
1.000 0.160 19 1207113 missense variant T/C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.810 1.000 5 1998 2019
dbSNP: rs137853077
rs137853077
STK11
1.000 0.160 19 1207113 missense variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 2 1998 2006
dbSNP: rs1060499958
rs1060499958
STK11
1.000 0.160 19 1219356 missense variant T/C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1131690941
rs1131690941
STK11
19 1220719 splice donor variant T/C snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1555737480
rs1555737480
STK11
1.000 0.160 19 1218502 splice donor variant T/C snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1555738683
rs1555738683
STK11
1.000 0.160 19 1221299 frameshift variant T/AC delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 1 2006 2006
dbSNP: rs1057520041
rs1057520041
STK11
1.000 0.160 19 1220438 missense variant T/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.710 1.000 1 2003 2003
dbSNP: rs1131690924
rs1131690924
STK11
19 1207019 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs786203624
rs786203624
STK11
19 1221985 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs864622707
rs864622707
STK11
1.000 0.160 19 1219343 frameshift variant T/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1555735080
rs1555735080
STK11
1.000 0.160 19 1207203 splice donor variant GTAAGTA/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 2 2004 2005
dbSNP: rs1555737814
rs1555737814
STK11
1.000 0.160 19 1219389 frameshift variant GT/- del
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 1 2017 2017
dbSNP: rs1131690935
rs1131690935
STK11
19 1221973 inframe deletion GGTTCTCCATCCGGCAGA/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 1.000 7 1992 2014
dbSNP: rs1131690936
rs1131690936
STK11
19 1207108 frameshift variant GGTG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690917
rs1131690917
STK11
1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 1.000 3 1999 2013