ClinVar Miner

List of variants in gene STK11 reported as pathogenic for Peutz-Jeghers syndrome

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Gene type:
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Total variants: 75
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HGVS dbSNP
NC_000019.9:g.(?_1218416)_(1219412_?)del
NC_000019.9:g.(?_1219317)_(1221345_?)del
NC_000019.9:g.(?_1221938)_(1222015_?)del
NC_000019.9:g.(?_1221948)_(1222005_?)del
NM_000455.4(STK11):c.-1115-?_290+?del
NM_000455.4(STK11):c.-1115_290del
NM_000455.4(STK11):c.105_106del (p.Tyr36fs) rs1568689994
NM_000455.4(STK11):c.1097_1108+1232del
NM_000455.4(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.4(STK11):c.129del (p.Lys44fs) rs1060499961
NM_000455.4(STK11):c.152dup (p.Met51fs) rs1568690161
NM_000455.4(STK11):c.157dup (p.Asp53fs) rs1131690917
NM_000455.4(STK11):c.169G>T (p.Glu57Ter) rs137854584
NM_000455.4(STK11):c.179_180dup (p.Gly61fs) rs1555735001
NM_000455.4(STK11):c.180C>A (p.Tyr60Ter) rs778376925
NM_000455.4(STK11):c.180C>G (p.Tyr60Ter) rs778376925
NM_000455.4(STK11):c.180del (p.Ser59_Tyr60insTer) rs1555735008
NM_000455.4(STK11):c.197_225del (p.Val66fs)
NM_000455.4(STK11):c.197dup (p.Leu67fs) rs397518441
NM_000455.4(STK11):c.199del (p.Leu67fs) rs1555735014
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.250A>T (p.Lys84Ter) rs137853076
NM_000455.4(STK11):c.256C>T (p.Arg86Ter) rs1057520039
NM_000455.4(STK11):c.290+1G>A rs1131690950
NM_000455.4(STK11):c.291-1G>T
NM_000455.4(STK11):c.291-2A>G rs876658584
NM_000455.4(STK11):c.394del (p.Cys132fs) rs864622707
NM_000455.4(STK11):c.398_399TG[2] (p.Cys134fs) rs587782424
NM_000455.4(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.4(STK11):c.418del (p.Leu140fs) rs397518440
NM_000455.4(STK11):c.440_441del (p.Arg147fs) rs1555737814
NM_000455.4(STK11):c.465-1G>A rs587776658
NM_000455.4(STK11):c.468C>G (p.Tyr156Ter) rs786201349
NM_000455.4(STK11):c.498C>G (p.Tyr166Ter)
NM_000455.4(STK11):c.525_532dup (p.Lys178fs) rs1555738219
NM_000455.4(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.4(STK11):c.542A>G (p.Asn181Ser) rs886037859
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.597+1G>T rs886039554
NM_000455.4(STK11):c.630C>A (p.Cys210Ter) rs786201213
NM_000455.4(STK11):c.658C>T (p.Gln220Ter) rs1131690940
NM_000455.4(STK11):c.717G>A (p.Trp239Ter) rs137853082
NM_000455.4(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.4(STK11):c.718_721del (p.Ser240fs) rs587776657
NM_000455.4(STK11):c.719C>A (p.Ser240Ter) rs730881976
NM_000455.4(STK11):c.727del (p.Val243fs) rs1555738475
NM_000455.4(STK11):c.738C>G (p.Tyr246Ter) rs137853083
NM_000455.4(STK11):c.755_758dup (p.Pro254fs)
NM_000455.4(STK11):c.759C>A (p.Tyr253Ter) rs137853075
NM_000455.4(STK11):c.762dup (p.Phe255fs)
NM_000455.4(STK11):c.790_793del (p.Phe264fs) rs121913320
NM_000455.4(STK11):c.793_794GA[3] (p.Asn266fs) rs1555738656
NM_000455.4(STK11):c.816del (p.Ser271_Tyr272insTer) rs1555738667
NM_000455.4(STK11):c.821delinsAC (p.Ile274fs) rs1555738683
NM_000455.4(STK11):c.82dup (p.Arg28fs) rs1568689930
NM_000455.4(STK11):c.832_833TG[1] (p.Cys278fs) rs587776659
NM_000455.4(STK11):c.842del (p.Pro281fs) rs121913321
NM_000455.4(STK11):c.842dup (p.Leu282fs) rs121913321
NM_000455.4(STK11):c.843del (p.Leu282fs) rs587776656
NM_000455.4(STK11):c.844dup (p.Leu282fs) rs786205864
NM_000455.4(STK11):c.862+1G>T rs1131690921
NM_000455.4(STK11):c.884_888del (p.Ala295fs) rs1555738863
NM_000455.4(STK11):c.890G>A (p.Arg297Lys) rs1568710381
NM_000455.4(STK11):c.891del (p.Arg297fs) rs587776661
NM_000455.4(STK11):c.895_901dup (p.Arg301fs) rs1555738874
NM_000455.4(STK11):c.908_916del (p.Ile303_His306delinsAsn) rs587776660
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.4(STK11):c.918_919delinsTCC (p.Ser307fs) rs1555738899
NM_000455.4(STK11):c.921-2A>C rs727504172
NM_000455.4(STK11):c.935_936del (p.Lys312fs) rs397518443
NM_000455.4(STK11):c.963del (p.Ile322fs)
NM_000455.4(STK11):c.964del (p.Ile322fs)
NM_000455.4(STK11):c.965dup (p.Pro324fs)
NM_000455.4(STK11):c.989_996del (p.Asp330fs) rs1060499960
STK11, EX4-5DEL/EX6-7INV

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