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: rs1057517830
rs1057517830
STK11
19 1221212 splice acceptor variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1057518830
rs1057518830
STK11
1.000 0.040 19 1221331 inframe deletion CTG/- delins
CUI: C1844606
Disease: Periorbital hyperpigmentation
Periorbital hyperpigmentation 		0.700 0
dbSNP: rs1057518830
rs1057518830
STK11
1.000 0.040 19 1221331 inframe deletion CTG/- delins
CUI: C1257915
Disease: Intestinal Polyposis
Intestinal Polyposis 		0.700 0
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: rs1060499960
rs1060499960
STK11
1.000 0.160 19 1223051 frameshift variant ACCGGTGG/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1060499961
rs1060499961
STK11
1.000 0.160 19 1207041 frameshift variant C/- delins
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1131690920
rs1131690920
STK11
1.000 0.160 19 1222007 splice donor variant G/A snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690920
rs1131690920
STK11
1.000 0.160 19 1222007 splice donor variant G/A snv
CUI: C0031269
Disease: Peutz-Jeghers Syndrome
Peutz-Jeghers Syndrome 		0.700 0
dbSNP: rs1131690921
rs1131690921
STK11
1.000 0.160 19 1221341 splice donor variant G/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690922
rs1131690922
STK11
19 1220403 frameshift variant -/ACCT delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690923
rs1131690923
STK11
19 1220623 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690924
rs1131690924
STK11
19 1207019 frameshift variant T/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690925
rs1131690925
STK11
19 1218493 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690926
rs1131690926
STK11
19 1219393 frameshift variant C/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690929
rs1131690929
STK11
19 1207121 frameshift variant -/A delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690930
rs1131690930
STK11
19 1207004 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690933
rs1131690933
STK11
19 1218488 frameshift variant -/GAAGC delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690936
rs1131690936
STK11
19 1207108 frameshift variant GGTG/- del
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690939
rs1131690939
STK11
19 1220445 frameshift variant G/-;GG delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		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: rs1131690944
rs1131690944
STK11
19 1221947 splice acceptor variant A/G snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690945
rs1131690945
STK11
19 1221999 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690946
rs1131690946
STK11
19 1220588 frameshift variant -/C delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690948
rs1131690948
STK11
19 1221228 frameshift variant G/- delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs1131690949
rs1131690949
STK11
1.000 0.160 19 1221320 frameshift variant -/G delins
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0