Total 579 pathogenic variants reported for Peutz-Jeghers syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000455.5(STK11):c.759C>A (p.Tyr253Ter) SNV
Germline		 Chr19:1221237 Pathogenic Peutz-Jeghers syndrome No Assertion Criteria Provided
 CA023267 rs_137853075

1 SubmittersRCV000007865
NM_000455.5(STK11):c.465-1G>A SNV
Germline		 Chr19:1220372 Pathogenic/Likely pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023026 rs_587776658

3 SubmittersRCV000007868RCV005286010
NM_000455.5(STK11):c.250A>T (p.Lys84Ter) SNV
Germline		 Chr19:1207163 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA022756 rs_137853076

6 SubmittersRCV000132431RCV000007869RCV000760079
NM_000455.5(STK11):c.200T>C (p.Leu67Pro) SNV
Germline		 Chr19:1207113 Pathogenic/Likely pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA022714 rs_137853077

7 SubmittersRCV000007871RCV000492681RCV000440305
NM_000455.5(STK11):c.169G>T (p.Glu57Ter) SNV
Germline		 Chr19:1207082 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA022691 rs_137854584

2 SubmittersRCV000007873
NM_000455.5(STK11):c.508C>T (p.Gln170Ter) SNV
Germline/somatic		 Chr19:1220416 Pathogenic Melanoma, cutaneous malignant, susceptibility to, 1
Peutz-Jeghers syndrome		 Criteria Provided
Single Submitter
 CA023056 rs_121913323

2 SubmittersRCV000007881RCV002512881
NM_000455.5(STK11):c.717G>C (p.Trp239Cys) SNV
Germline		 Chr19:1220700 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA023239 rs_137853082

2 SubmittersRCV000007884
NM_000455.5(STK11):c.738C>G (p.Tyr246Ter) SNV
Germline		 Chr19:1221216 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA023261 rs_137853083

2 SubmittersRCV000007886
NM_000455.5(STK11):c.877G>T (p.Glu293Ter) SNV
Germline		 Chr19:1221963 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023322 rs_398123405

3 SubmittersRCV000078913RCV004678606RCV005051747
NM_000455.5(STK11):c.1045G>A (p.Glu349Lys) SNV
Germline		 Chr19:1223109 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified
not specified		 Criteria Provided
Conflicting Classifications
 CA022228 rs_553752236

8 SubmittersRCV000115592RCV000476845RCV000573750RCV000761075RCV000781887
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) SNV
Germline		 Chr19:1226472 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA022329 rs_373888280

15 SubmittersRCV000115594RCV000205503RCV000855606RCV000586344RCV003492475
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser) SNV
Germline		 Chr19:1226534 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA022429 rs_587780008

10 SubmittersRCV000115595RCV000195603RCV000576049RCV003235043RCV001798331
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) SNV
Germline		 Chr19:1226556 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Malignant tumor of breast
Condition: not provided
Breast and/or ovarian cancer
Hereditary breast ovarian cancer syndrome
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022472 rs_200078204

30 SubmittersRCV000115596RCV000200450RCV000213035RCV001269488RCV000589835RCV003149797RCV004689610RCV003891608
NM_000455.5(STK11):c.1229C>T (p.Ala410Val) SNV
Germline		 Chr19:1226574 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA022505 rs_372329880

10 SubmittersRCV000115597RCV000200053RCV000213038RCV002281935
NM_000455.5(STK11):c.465-4G>A SNV
Germline		 Chr19:1220369 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Malignant tumor of breast
Breast carcinoma
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023032 rs_587780009

19 SubmittersRCV000115599RCV000144662RCV000213012RCV000679320RCV001354249RCV001262518RCV001798332
NM_000455.5(STK11):c.842C>A (p.Pro281Gln) SNV
Germline		 Chr19:1221320 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome
Carcinoma of pancreas		 Criteria Provided
Conflicting Classifications
 CA023302 rs_121913322

10 SubmittersRCV000115601RCV000213021RCV000476631RCV001293889
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) SNV
Germline		 Chr19:1221980 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Carcinoma of pancreas
Condition: not provided
Germ cell tumor of testis
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Familial pancreatic carcinoma
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA023331 rs_199681533

19 SubmittersRCV000115603RCV000213024RCV000195949RCV001293890RCV003114259RCV005394387RCV003891609
NM_000455.5(STK11):c.901C>T (p.Arg301Trp) SNV
Germline		 Chr19:1221987 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA023340 rs_587780012

6 SubmittersRCV000115604RCV000467481RCV000775659
NM_000455.5(STK11):c.920+5G>A SNV
Germline		 Chr19:1222011 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA023350 rs_587780013

12 SubmittersRCV000115605RCV000204699RCV000213026RCV000588193RCV004745187
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) SNV
Germline		 Chr19:1223034 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
STK11-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023381 rs_549474196

16 SubmittersRCV000115606RCV000168083RCV000213028RCV003964969RCV003477496
NM_000455.5(STK11):c.1088C>T (p.Thr363Ile) SNV
Germline		 Chr19:1223152 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022281 rs_587778695

10 SubmittersRCV000122092RCV000206210RCV000219976RCV000656983
NM_000455.5(STK11):c.1072G>A (p.Asp358Asn) SNV
Germline		 Chr19:1223136 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022271 rs_587778696

4 SubmittersRCV000122093RCV000470035RCV000579806
NM_000455.5(STK11):c.1185A>G (p.Thr395=) SNV
Germline		 Chr19:1226530 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA022422 rs_370207155

22 SubmittersRCV000123054RCV000128303RCV000213032RCV000586467RCV001798402RCV001357027
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp) SNV
Germline		 Chr19:1226570 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Breast carcinoma
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022492 rs_368466538

19 SubmittersRCV000123056RCV000131250RCV000216380RCV000414992RCV000656985
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) SNV
Germline		 Chr19:1226599 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Familial pancreatic carcinoma
Melanoma, cutaneous malignant, susceptibility to, 1
Peutz-Jeghers syndrome
Germ cell tumor of testis		 Criteria Provided
Conflicting Classifications
 CA022547 rs_587780715

15 SubmittersRCV000123057RCV000131151RCV000585976RCV002281949RCV005394447
NM_000455.5(STK11):c.301C>G (p.Leu101Val) SNV
Germline		 Chr19:1218427 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022804 rs_587780716

8 SubmittersRCV000123058RCV000588542RCV000568071
NM_000455.5(STK11):c.434A>G (p.Glu145Gly) SNV
Germline		 Chr19:1219383 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Familial pancreatic carcinoma
Melanoma, cutaneous malignant, susceptibility to, 1
Peutz-Jeghers syndrome
Germ cell tumor of testis		 Criteria Provided
Conflicting Classifications
 CA022939 rs_369764220

12 SubmittersRCV000123059RCV000566308RCV000781891RCV001785473RCV005025200
NM_000455.5(STK11):c.440G>A (p.Arg147His) SNV
Germline		 Chr19:1219389 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer
not specified		 Criteria Provided
Conflicting Classifications
 CA022946 rs_587780717

9 SubmittersRCV000123060RCV000216877RCV000565548RCV003492539RCV005237559
NM_000455.5(STK11):c.447A>G (p.Pro149=) SNV
Germline		 Chr19:1219396 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA022954 rs_587780718

6 SubmittersRCV000123061RCV000771625
NM_000455.5(STK11):c.721G>A (p.Ala241Thr) SNV
Germline		 Chr19:1220704 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023250 rs_587780721

14 SubmittersRCV000123065RCV000161005RCV000580621RCV003467088RCV003492540
NM_000455.5(STK11):c.375-7G>A SNV
Germline		 Chr19:1219317 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA022857 rs_587781176

13 SubmittersRCV000128292RCV000195449RCV000580100RCV000586954RCV005359190
NM_000455.5(STK11):c.734+20G>A SNV
Germline		 Chr19:1220737 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Breast and/or ovarian cancer
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA023259 rs_375315233

11 SubmittersRCV000128909RCV000213017RCV000410646RCV003149874RCV003915281
NM_000455.5(STK11):c.825G>A (p.Pro275=) SNV
Germline		 Chr19:1221303 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023286 rs_202011521

19 SubmittersRCV000129143RCV000200552RCV000213020RCV000759361RCV003149875
NM_000455.5(STK11):c.1296G>A (p.Gln432=) SNV
Germline		 Chr19:1226641 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Peutz-Jeghers syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA022623 rs_587781179

18 SubmittersRCV000128305RCV000588407RCV000213036RCV001079439RCV003492578
NM_000455.5(STK11):c.*8C>T SNV
Germline		 Chr19:1226655 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Breast and/or ovarian cancer
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA023337 rs_587782259

19 SubmittersRCV000130973RCV000339554RCV000213042RCV000679315RCV003492579RCV001354382
NM_000455.5(STK11):c.*16+10G>A SNV
Germline		 Chr19:1226673 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022637 rs_587781180

7 SubmittersRCV000128307RCV000407873RCV002256084RCV001725126
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) SNV
Germline		 Chr19:1223091 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022175 rs_368547224

16 SubmittersRCV000129286RCV000197027RCV000213030RCV000656982RCV004745207
NM_000455.5(STK11):c.1190C>T (p.Ala397Val) SNV
Germline		 Chr19:1226535 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA022434 rs_558040549

11 SubmittersRCV000129317RCV000213033RCV000205254RCV000656984RCV003149889
NM_000455.5(STK11):c.1039G>A (p.Ala347Thr) SNV
Germline		 Chr19:1223103 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA022200 rs_369744528

12 SubmittersRCV000129447RCV000200813RCV000590522RCV000722120
NM_000455.5(STK11):c.566C>T (p.Thr189Ile) SNV
Germline		 Chr19:1220474 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Hereditary breast ovarian cancer syndrome
Carcinoma of pancreas
Peutz-Jeghers syndrome
Malignant tumor of testis		 Criteria Provided
Conflicting Classifications
 CA023082 rs_587781515

14 SubmittersRCV000129498RCV000204187RCV000220770RCV000587196RCV001030732RCV000765431
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp) SNV
Germline		 Chr19:1226628 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Condition: not provided
Familial pancreatic carcinoma
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022599 rs_587781537

11 SubmittersRCV000129543RCV000216446RCV000549140RCV000657082RCV005359207
NM_000455.5(STK11):c.1208A>G (p.Lys403Arg) SNV
Germline		 Chr19:1226553 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Breast carcinoma
Condition: not provided
Carcinoma of pancreas
STK11-related disorder
not specified
Familial pancreatic carcinoma
Melanoma, cutaneous malignant, susceptibility to, 1
Peutz-Jeghers syndrome
Germ cell tumor of testis		 Criteria Provided
Conflicting Classifications
 CA022467 rs_587781633

11 SubmittersRCV000129742RCV000228045RCV000414913RCV000478346RCV001197036RCV003415945RCV005229960RCV005394472
NM_000455.5(STK11):c.464+5G>A SNV
Germline		 Chr19:1219418 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Malignant tumor of testis
Carcinoma of pancreas
Peutz-Jeghers syndrome
Condition: not provided
not specified
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023015 rs_587781681

13 SubmittersRCV000129842RCV000537602RCV000765430RCV000986037RCV004526619RCV001355662RCV003149895
NM_000455.5(STK11):c.449T>C (p.Val150Ala) SNV
Germline		 Chr19:1219398 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022959 rs_587781802

11 SubmittersRCV000130068RCV000199606RCV000582047RCV001557521RCV003415947
NM_000455.5(STK11):c.734+1G>T SNV
Germline/somatic		 Chr19:1220718 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023257 rs_587782018

4 SubmittersRCV000130447RCV001849934RCV005229964
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) SNV
Germline		 Chr19:1220467 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified
Hereditary cancer
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA023076 rs_587782032

14 SubmittersRCV000130480RCV000198594RCV000590446RCV000855607RCV003492602RCV001358086
NM_000455.5(STK11):c.1040C>G (p.Ala347Gly) SNV
Germline		 Chr19:1223104 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022211 rs_587782058

7 SubmittersRCV000217158RCV000130534RCV000527203
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser) SNV
Germline		 Chr19:1223100 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA022187 rs_375431906

10 SubmittersRCV000130584RCV000206247RCV000482308
NM_000455.5(STK11):c.316C>T (p.Arg106Trp) SNV
Germline		 Chr19:1218442 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome
not specified
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022819 rs_587782115

12 SubmittersRCV000130634RCV000220149RCV000204388RCV003330503RCV003407548
NM_000455.5(STK11):c.992G>A (p.Arg331Gln) SNV
Germline		 Chr19:1223056 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023399 rs_371264852

13 SubmittersRCV000130707RCV000199024RCV000486850RCV002465530
NM_000455.5(STK11):c.1130C>T (p.Ala377Val) SNV
Germline		 Chr19:1226475 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA022340 rs_199973552

11 SubmittersRCV000130754RCV000195574RCV000483853RCV005237568
NM_000455.5(STK11):c.465-5C>T SNV
Germline		 Chr19:1220368 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
Breast and/or ovarian cancer
Carcinoma of colon
not specified		 Criteria Provided
Conflicting Classifications
 CA023036 rs_567202367

14 SubmittersRCV000130832RCV000199796RCV001705929RCV003492604RCV001355110RCV003321514
NM_000455.5(STK11):c.817G>A (p.Ala273Thr) SNV
Germline		 Chr19:1221295 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA023284 rs_587782199

12 SubmittersRCV000130859RCV000196939RCV000587949RCV001356427RCV005089644
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) SNV
Germline		 Chr19:1221320 Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Peutz-Jeghers syndrome
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023305 rs_121913322

15 SubmittersRCV001030733RCV000130951RCV001719902RCV000235215RCV000232126RCV003153424
NM_000455.5(STK11):c.1012G>A (p.Val338Met) SNV
Germline		 Chr19:1223076 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Carcinoma of pancreas
Peutz-Jeghers syndrome
Malignant tumor of testis
Familial adenomatous polyposis 2
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022150 rs_587782302

14 SubmittersRCV000131186RCV000168376RCV000222337RCV001354464RCV000765433RCV002243796RCV003407552
NM_000455.5(STK11):c.1168G>A (p.Val390Met) SNV
Germline		 Chr19:1226513 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA022393 rs_374078532

11 SubmittersRCV000131310RCV000536228RCV000482811RCV001290662RCV003153425
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys) SNV
Germline		 Chr19:1226492 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
See cases		 Criteria Provided
Conflicting Classifications
 CA022357 rs_535449626

8 SubmittersRCV000131320RCV000168106RCV001255473RCV004721272RCV004584354
NM_000455.5(STK11):c.1226G>A (p.Arg409Gln) SNV
Germline		 Chr19:1226571 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022499 rs_587782364

15 SubmittersRCV000131326RCV000197480RCV000487216RCV000657038RCV004745210
NM_000455.5(STK11):c.608C>T (p.Pro203Leu) SNV
Germline		 Chr19:1220591 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome
Germ cell tumor of testis
Familial pancreatic carcinoma
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA023131 rs_587782379

8 SubmittersRCV000131373RCV000219794RCV000536349RCV005394486
NM_000455.5(STK11):c.618G>A (p.Ala206=) SNV
Germline		 Chr19:1220601 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Malignant tumor of breast
Breast and/or ovarian cancer
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023163 rs_370976710

17 SubmittersRCV000131380RCV000477653RCV001357059RCV001798450RCV001704058RCV002267880
NM_000455.5(STK11):c.464+4C>T SNV
Germline		 Chr19:1219417 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
STK11-related disorder
Breast and/or ovarian cancer
Familial ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023012 rs_373167735

11 SubmittersRCV000131463RCV000204358RCV000485485RCV003891668RCV003492623RCV005359268
NM_000455.5(STK11):c.297T>G (p.Ile99Met) SNV
Germline		 Chr19:1218423 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022795 rs_559620061

4 SubmittersRCV000131468RCV000803794RCV002509240
NM_000455.5(STK11):c.464+14G>A SNV
Germline		 Chr19:1219427 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022991 rs_587782421

4 SubmittersRCV000131472RCV001122237
NM_000455.5(STK11):c.598-11C>T SNV
Germline		 Chr19:1220570 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA023108 rs_587782431

7 SubmittersRCV000131489RCV000662968
NM_000455.5(STK11):c.614C>T (p.Ala205Val) SNV
Germline		 Chr19:1220597 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023150 rs_587782468

12 SubmittersRCV000131568RCV000168319RCV000486177RCV004586563
NM_000455.5(STK11):c.877G>A (p.Glu293Lys) SNV
Germline		 Chr19:1221963 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA023320 rs_398123405

6 SubmittersRCV000131978RCV000632837
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu) SNV
Germline		 Chr19:1223080 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA022164 rs_567896256

9 SubmittersRCV000132059RCV000226438RCV000483861RCV003226211RCV003462029
NM_000455.5(STK11):c.1225C>G (p.Arg409Gly) SNV
Germline		 Chr19:1226570 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022487 rs_368466538

10 SubmittersRCV000132082RCV000409343RCV000509169
NM_000455.5(STK11):c.1276C>G (p.Arg426Gly) SNV
Germline		 Chr19:1226621 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA022588 rs_587782687

10 SubmittersRCV000132118RCV000410170RCV000485540RCV003462033
NM_000455.5(STK11):c.1068C>G (p.Ile356Met) SNV
Germline		 Chr19:1223132 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022258 rs_187744790

5 SubmittersRCV000132217RCV001043772
NM_000455.5(STK11):c.310A>T (p.Arg104Trp) SNV
Germline		 Chr19:1218436 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Peutz-Jeghers syndrome
Familial pancreatic carcinoma
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA022815 rs_587782783

6 SubmittersRCV000132324RCV000227082RCV005237574RCV005359301RCV003462043
NM_000455.5(STK11):c.841C>A (p.Pro281Thr) SNV
Germline		 Chr19:1221319 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA023300 rs_377208033

12 SubmittersRCV000132358RCV000219471RCV000468995
NM_000455.5(STK11):c.1100C>T (p.Thr367Met) SNV
Germline		 Chr19:1223164 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA022292 rs_587782835

10 SubmittersRCV000132421RCV000197228RCV000222146RCV002267886
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser) SNV
Germline		 Chr19:1226594 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Breast and/or ovarian cancer
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022536 rs_587782876

11 SubmittersRCV000132509RCV000229071RCV001798461RCV004783751
NC_000019.10:g.1221994T>G SNV
Germline		 Chr19:1221994 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA023344 rs_727504171

2 SubmittersRCV000153993RCV002514964
NM_000455.5(STK11):c.151A>C (p.Met51Leu) SNV
Germline		 Chr19:1207064 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA022670 rs_730881986

8 SubmittersRCV000161009RCV000470806RCV000579540RCV003467272
NM_000455.5(STK11):c.310A>G (p.Arg104Gly) SNV
Germline		 Chr19:1218436 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022810 rs_587782783

7 SubmittersRCV000160999RCV000233314RCV000569641RCV003895077
NM_000455.5(STK11):c.357C>T (p.Asn119=) SNV
Germline		 Chr19:1218483 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Peutz-Jeghers syndrome
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Germ cell tumor of testis
Familial pancreatic carcinoma		 Criteria Provided
Conflicting Classifications
 CA022838 rs_372511774

18 SubmittersRCV000160969RCV000213010RCV000590217RCV000195629RCV005394563
NM_000455.5(STK11):c.374+11C>T SNV
Germline		 Chr19:1218511 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA022853 rs_368923696

10 SubmittersRCV000160970RCV000403191RCV000579611RCV000679317RCV001356999
NM_000455.5(STK11):c.397G>A (p.Val133Met) SNV
Germline		 Chr19:1219346 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Hepatoblastoma
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022888 rs_567769257

13 SubmittersRCV000161000RCV000411610RCV000575310RCV000781888RCV000761133RCV004745227
NM_000455.5(STK11):c.409C>T (p.Gln137Ter) SNV
Germline		 Chr19:1219358 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA022914 rs_730881970

2 SubmittersRCV000492356RCV004019944
NM_000455.5(STK11):c.464+1G>T SNV
Germline		 Chr19:1219414 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023005 rs_730881971

2 SubmittersRCV001904587RCV002334752
NM_000455.5(STK11):c.487G>C (p.Gly163Arg) SNV
Germline		 Chr19:1220395 Likely pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Familial pancreatic carcinoma
Melanoma, cutaneous malignant, susceptibility to, 1
Germ cell tumor of testis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023047 rs_730881972

2 SubmittersRCV000492450RCV005394564
NM_000455.5(STK11):c.526G>A (p.Asp176Asn) SNV
Germline		 Chr19:1220434 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023060 rs_730881979

4 SubmittersRCV000429467RCV002345554RCV000760083
NM_000455.5(STK11):c.543C>A (p.Asn181Lys) SNV
Germline		 Chr19:1220451 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 rs_730881973

1 SubmittersRCV004796592
NM_000455.5(STK11):c.579C>T (p.Ser193=) SNV
Germline		 Chr19:1220487 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Peutz-Jeghers syndrome
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA023087 rs_730881961

11 SubmittersRCV000160972RCV000213013RCV000725212RCV001082620RCV003945256
NM_000455.5(STK11):c.613G>A (p.Ala205Thr) SNV
Germline		 Chr19:1220596 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA023146 rs_730881981

12 SubmittersRCV000161003RCV000200492RCV000200996RCV000760084RCV003462107
NM_000455.5(STK11):c.632G>A (p.Arg211Gln) SNV
Germline		 Chr19:1220615 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified
Malignant tumor of testis
Carcinoma of pancreas
Peutz-Jeghers syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA023190 rs_730881982

15 SubmittersRCV000161004RCV000196911RCV000235214RCV000781892RCV000765432RCV003149983
NM_000455.5(STK11):c.719C>G (p.Ser240Trp) SNV
Germline		 Chr19:1220702 Likely pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Malignant tumor of testis
Carcinoma of pancreas
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023243 rs_730881976

4 SubmittersRCV000160995RCV000763422RCV001041130
NM_000455.5(STK11):c.889A>G (p.Arg297Gly) SNV
Unknown		 Chr19:1221975 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA023325 rs_730881978

1 SubmittersRCV004437823
NM_000455.5(STK11):c.891G>T (p.Arg297Ser) SNV
Germline		 Chr19:1221977 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA023329 rs_730881984

1 SubmittersRCV001062236
NM_000455.5(STK11):c.920+6C>T SNV
Germline		 Chr19:1222012 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA023352 rs_730881964

14 SubmittersRCV000160980RCV000205864RCV001356709RCV000582092RCV003917552
NM_000455.5(STK11):c.1148G>A (p.Arg383His) SNV
Germline		 Chr19:1226493 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome
Generalized juvenile polyposis/juvenile polyposis coli
not specified
Carcinoma of pancreas		 Criteria Provided
Conflicting Classifications
 CA022363 rs_730881990

12 SubmittersRCV000161013RCV000235216RCV000204343RCV001356849RCV001804887RCV001197815
NM_000455.5(STK11):c.1252T>A (p.Cys418Ser) SNV
Germline		 Chr19:1226597 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022540 rs_730881991

5 SubmittersRCV000161014RCV000564627RCV000699445
NM_000455.5(STK11):c.1274G>A (p.Arg425His) SNV
Germline		 Chr19:1226619 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022577 rs_730881992

6 SubmittersRCV000161015RCV000195803RCV000213041
NM_000455.5(STK11):c.-1C>T SNV
Germline		 Chr19:1206913 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Breast and/or ovarian cancer
STK11-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022704 rs_759284466

8 SubmittersRCV000164494RCV000431625RCV001808438RCV003491893RCV004745242RCV000986036
NM_000455.5(STK11):c.15C>T (p.Asp5=) SNV
Germline		 Chr19:1206928 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022675 rs_786201498

8 SubmittersRCV000163753RCV000590092RCV000538130RCV004998313
NM_000455.5(STK11):c.45C>T (p.Gly15=) SNV
Germline		 Chr19:1206958 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022967 rs_786201234

4 SubmittersRCV000163147RCV000632813
NM_000455.5(STK11):c.396C>T (p.Cys132=) SNV
Germline		 Chr19:1219345 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA022873 rs_730881969

9 SubmittersRCV000163260RCV000204600RCV000434058
NM_000455.5(STK11):c.462C>T (p.His154=) SNV
Germline		 Chr19:1219411 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Malignant tumor of breast
not specified		 Criteria Provided
Conflicting Classifications
 CA022972 rs_786201418

6 SubmittersRCV000163587RCV000463525RCV001356112RCV002267905
NM_000455.5(STK11):c.564C>T (p.Gly188=) SNV
Germline		 Chr19:1220472 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA023079 rs_786201344

5 SubmittersRCV000163432RCV000807723
NM_000455.5(STK11):c.582C>A (p.Asp194Glu) SNV
Germline		 Chr19:1220490 Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023096 rs_786202134

3 SubmittersRCV000164794RCV000582180RCV001850304
NM_000455.5(STK11):c.612C>T (p.Phe204=) SNV
Germline		 Chr19:1220595 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Germ cell tumor of testis
Peutz-Jeghers syndrome
Familial pancreatic carcinoma		 Criteria Provided
Conflicting Classifications
 CA023142 rs_774100153

10 SubmittersRCV000163160RCV000477993RCV001079704RCV005394575
NM_000455.5(STK11):c.617C>T (p.Ala206Val) SNV
Germline		 Chr19:1220600 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023158 rs_764244639

12 SubmittersRCV000163146RCV000412198RCV000478878RCV002247563
NM_000455.5(STK11):c.631C>T (p.Arg211Trp) SNV
Germline		 Chr19:1220614 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA023186 rs_185087320

12 SubmittersRCV000163543RCV000204629RCV001539393RCV003387780
NM_000455.5(STK11):c.720G>A (p.Ser240=) SNV
Germline		 Chr19:1220703 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA023246 rs_759743897

9 SubmittersRCV000163194RCV000196370RCV000439077RCV003477588
NM_000455.5(STK11):c.828C>T (p.Gly276=) SNV
Germline		 Chr19:1221306 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
STK11-related disorder
not specified		 Criteria Provided
Conflicting Classifications
 CA023290 rs_200824447

13 SubmittersRCV000198830RCV000163546RCV001284361RCV003907508RCV001818367
NM_000455.5(STK11):c.842C>G (p.Pro281Arg) SNV
Germline		 Chr19:1221320 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA023303 rs_121913322

6 SubmittersRCV000164375RCV000228218RCV003467293
NM_000455.5(STK11):c.846C>G (p.Leu282=) SNV
Germline		 Chr19:1221324 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
not specified
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Germ cell tumor of testis
Familial pancreatic carcinoma
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA023312 rs_777872290

14 SubmittersRCV000162636RCV000544248RCV001200419RCV002265638RCV005394573RCV003895086
NM_000455.5(STK11):c.910C>T (p.Arg304Trp) SNV
Germline/somatic		 Chr19:1221996 Pathogenic/Likely pathogenic Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Neoplasm		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023348 rs_786201090

13 SubmittersRCV000256082RCV000435642RCV001183047RCV005230004
NM_000455.5(STK11):c.976C>A (p.Pro326Thr) SNV
Germline		 Chr19:1223040 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
Malignant tumor of breast
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA023391 rs_771632414

11 SubmittersRCV000163989RCV000553557RCV000766875RCV001358183RCV003467283
NM_000455.5(STK11):c.1038C>T (p.Gly346=) SNV
Germline		 Chr19:1223102 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Breast and/or ovarian cancer
Condition: not provided
STK11-related disorder
Hereditary cancer		 Criteria Provided
Conflicting Classifications
 CA022194 rs_767565606

12 SubmittersRCV000163139RCV000198223RCV000427198RCV001798570RCV001800476RCV003407603RCV003492670
NM_000455.5(STK11):c.1041G>A (p.Ala347=) SNV
Germline		 Chr19:1223105 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Carcinoma of colon
Condition: not provided
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022217 rs_537906142

11 SubmittersRCV000163988RCV000220705RCV000233264RCV001358350RCV000587275RCV003937503
NM_000455.5(STK11):c.1142G>C (p.Gly381Ala) SNV
Germline		 Chr19:1226487 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022351 rs_765419233

7 SubmittersRCV000163414RCV000811562RCV003230423RCV000587411
NM_000455.5(STK11):c.1167C>G (p.Ala389=) SNV
Germline		 Chr19:1226512 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022388 rs_547919101

9 SubmittersRCV000165173RCV000756724RCV000558075
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser) SNV
Germline		 Chr19:1226525 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Embryonal rhabdomyosarcoma
Condition: not provided
not specified
Germ cell tumor of testis
Carcinoma of pancreas
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA022410 rs_768780695

14 SubmittersRCV000163162RCV000168138RCV000761079RCV001808435RCV001264531RCV002485009
NM_000455.5(STK11):c.1193C>T (p.Ala398Val) SNV
Germline		 Chr19:1226538 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Breast carcinoma		 Criteria Provided
Conflicting Classifications
 CA022442 rs_768058962

13 SubmittersRCV000163934RCV000234273RCV000486365RCV000657114RCV001262270
NM_000455.5(STK11):c.1231C>G (p.Pro411Ala) SNV
Germline		 Chr19:1226576 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022510 rs_772527201

5 SubmittersRCV000166856RCV000476238RCV000986035
NM_000455.5(STK11):c.1235A>G (p.Asn412Ser) SNV
Germline		 Chr19:1226580 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA022515 rs_786201309

7 SubmittersRCV000163337RCV000539118RCV004700501RCV001731410RCV003462119
NM_000455.5(STK11):c.1259C>T (p.Ala420Val) SNV
Germline		 Chr19:1226604 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022562 rs_369033659

7 SubmittersRCV000163163RCV000476379RCV000760076
NM_000455.5(STK11):c.1266C>T (p.Ser422=) SNV
Germline		 Chr19:1226611 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022573 rs_751352435

4 SubmittersRCV000163161RCV000545789
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp) SNV
Germline		 Chr19:1226621 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA022593 rs_587782687

9 SubmittersRCV000163116RCV000168123RCV001194241RCV002298489
NM_000455.5(STK11):c.1284G>A (p.Ser428=) SNV
Germline		 Chr19:1226629 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Breast and/or ovarian cancer
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA022604 rs_369097329

18 SubmittersRCV000163145RCV000205545RCV000437311RCV001798571RCV003952817
NM_000455.5(STK11):c.1290C>T (p.Cys430=) SNV
Germline		 Chr19:1226635 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022619 rs_786201451

2 SubmittersRCV000163674RCV001850289
NM_000455.5(STK11):c.*1G>A SNV
Germline		 Chr19:1226648 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA022709 rs_786201397

2 SubmittersRCV000163544RCV005425758
NM_000455.5(STK11):c.580G>A (p.Asp194Asn) SNV
Germline		 Chr19:1220488 Pathogenic/Likely pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA023091 rs_121913315

12 SubmittersRCV000168375RCV000492479RCV000708629
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) SNV
Germline		 Chr19:1223133 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Familial pancreatic carcinoma
Germ cell tumor of testis		 Criteria Provided
Conflicting Classifications
 CA022264 rs_759473833

10 SubmittersRCV000657031RCV000465950RCV000563889RCV000780766RCV005396550
NM_000455.5(STK11):c.374+9T>A SNV
Germline		 Chr19:1218509 Conflicting classifications of pathogenicity not specified
Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA047373 rs_762297795

11 SubmittersRCV000434543RCV001284241RCV000990126RCV001188671RCV003907746
NM_000455.5(STK11):c.439C>T (p.Arg147Cys) SNV
Germline		 Chr19:1219388 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA047635 rs_748464757

9 SubmittersRCV000198395RCV000573355RCV001540776
NM_000455.5(STK11):c.464+8C>T SNV
Germline		 Chr19:1219421 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial ovarian cancer
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA336644 rs_863224669

9 SubmittersRCV000196711RCV000506144RCV000582726RCV001682913RCV005361149RCV003947660
NM_000455.5(STK11):c.719C>A (p.Ser240Ter) SNV
Germline		 Chr19:1220702 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA338699 rs_730881976

2 SubmittersRCV000199530RCV002372183
NM_000455.5(STK11):c.863-1G>A SNV
Germline		 Chr19:1221948 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA336282 rs_863224448

1 SubmittersRCV000196256
NM_000455.5(STK11):c.902G>A (p.Arg301Gln) SNV
Germline		 Chr19:1221988 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA049476 rs_370222210

8 SubmittersRCV000197149RCV000583301RCV001552011
NM_000455.5(STK11):c.921-8G>A SNV
Germline		 Chr19:1222977 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA336730 rs_863224362

9 SubmittersRCV000196801RCV000580046RCV001356901RCV001706184RCV003321540
NM_000455.5(STK11):c.1174A>G (p.Met392Val) SNV
Germline		 Chr19:1226519 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA045732 rs_565993396

12 SubmittersRCV000199162RCV000776534RCV001778787RCV005406937
NM_000455.5(STK11):c.1286C>G (p.Ala429Gly) SNV
Germline		 Chr19:1226631 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA046303 rs_757369900

9 SubmittersRCV000197676RCV000574953RCV000760078
NM_000455.5(STK11):c.306G>C (p.Leu102=) SNV
Germline		 Chr19:1218432 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA047027 rs_370130178

6 SubmittersRCV000205991RCV000221681RCV003477684RCV004745279
NM_000455.5(STK11):c.355A>G (p.Asn119Asp) SNV
Germline		 Chr19:1218481 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of breast
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA047166 rs_545015076

8 SubmittersRCV000205670RCV000564055RCV001356672RCV003491952
NM_000455.5(STK11):c.363G>A (p.Glu121=) SNV
Germline		 Chr19:1218489 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA349271 rs_864622574

5 SubmittersRCV000205084RCV000570726RCV002286718
NM_000455.5(STK11):c.735-3A>G SNV
Germline		 Chr19:1221210 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA349714 rs_864622128

3 SubmittersRCV001448289RCV001824682RCV002381701
NM_000455.5(STK11):c.923G>T (p.Trp308Leu) SNV
Germline		 Chr19:1222987 Likely pathogenic Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Peutz-Jeghers syndrome
Germ cell tumor of testis
Familial pancreatic carcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA349711 rs_864622488

2 SubmittersRCV000205568RCV005396642
NM_000455.5(STK11):c.1109-3C>T SNV
Germline		 Chr19:1226451 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA348022 rs_864622219

10 SubmittersRCV000203722RCV000564888RCV000616401RCV001284238
NM_000455.5(STK11):c.1217C>T (p.Ala406Val) SNV
Germline		 Chr19:1226562 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA046002 rs_748202003

13 SubmittersRCV000204370RCV000222032RCV000565860RCV001192852RCV003153487
NM_000455.5(STK11):c.1230C>T (p.Ala410=) SNV
Germline		 Chr19:1226575 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA350848 rs_864622171

8 SubmittersRCV000206855RCV000561290RCV003477680RCV003897442
NM_000455.5(STK11):c.1243C>G (p.Arg415Gly) SNV
Germline		 Chr19:1226588 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of pancreas
Peutz-Jeghers syndrome
Malignant tumor of testis
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA350119 rs_864622448

10 SubmittersRCV000206057RCV000561859RCV000765435RCV000759354RCV003468946
NM_000455.5(STK11):c.248A>G (p.Lys83Arg) SNV
Germline		 Chr19:1207161 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Germ cell tumor of testis
Peutz-Jeghers syndrome
Familial pancreatic carcinoma
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA046692 rs_374006397

8 SubmittersRCV000217408RCV000539793RCV000565378RCV005025369
NM_000455.5(STK11):c.1150C>T (p.Arg384Trp) SNV
Germline		 Chr19:1226495 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Malignant tumor of breast
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA045625 rs_752015385

11 SubmittersRCV000218896RCV000572898RCV000231028RCV001356885RCV003407761
NM_000455.5(STK11):c.1118C>T (p.Pro373Leu) SNV
Germline		 Chr19:1226463 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10577599 rs_876661153

6 SubmittersRCV000221173RCV000815664RCV001017384
NM_000455.5(STK11):c.1175T>C (p.Met392Thr) SNV
Germline		 Chr19:1226520 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA10577600 rs_876661013

6 SubmittersRCV000222367RCV000697176RCV000771390RCV003479069
NM_000455.5(STK11):c.1283C>T (p.Ser428Leu) SNV
Germline		 Chr19:1226628 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA046284 rs_587781537

7 SubmittersRCV000218637RCV000476552RCV000567419RCV003150130
NM_000455.5(STK11):c.291-2A>G SNV
Germline		 Chr19:1218415 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10580999 rs_876658584

3 SubmittersRCV000222975RCV000632841
NM_000455.5(STK11):c.318G>T (p.Arg106=) SNV
Germline		 Chr19:1218444 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10581000 rs_777784520

9 SubmittersRCV000223178RCV000611475RCV000932561RCV003477753RCV003491983
NM_000455.5(STK11):c.991C>T (p.Arg331Trp) SNV
Germline		 Chr19:1223055 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA10581014 rs_876658594

8 SubmittersRCV000217573RCV000460876RCV001293583RCV003477719
NM_000455.5(STK11):c.1258G>T (p.Ala420Ser) SNV
Germline		 Chr19:1226603 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA046161 rs_762482152

9 SubmittersRCV000223101RCV000663120RCV000760075
NM_000455.5(STK11):c.94A>G (p.Thr32Ala) SNV
Germline		 Chr19:1207007 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Peutz-Jeghers syndrome
Familial pancreatic carcinoma
Melanoma, cutaneous malignant, susceptibility to, 1
Germ cell tumor of testis		 Criteria Provided
Conflicting Classifications
 CA049791 rs_755210880

14 SubmittersRCV000229700RCV000561474RCV000479327RCV003401170RCV005025382
NM_000455.5(STK11):c.120C>T (p.Arg40=) SNV
Germline		 Chr19:1207033 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA10583781 rs_878853984

7 SubmittersRCV000232514RCV000571116RCV000482947RCV004725101
NM_000455.5(STK11):c.460C>G (p.His154Asp) SNV
Germline		 Chr19:1219409 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583784 rs_878853988

2 SubmittersRCV000233110RCV002338706
NM_000455.5(STK11):c.465-8G>A SNV
Germline		 Chr19:1220365 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583786 rs_878853990

5 SubmittersRCV000231331RCV000508005RCV001183560
NM_000455.5(STK11):c.957A>G (p.Pro319=) SNV
Germline		 Chr19:1223021 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA049804 rs_755126393

9 SubmittersRCV000833672RCV000233618RCV002469083RCV001019503
NM_000455.5(STK11):c.1108+3G>A SNV
Germline		 Chr19:1223175 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA045322 rs_755746417

10 SubmittersRCV000230024RCV000445130RCV000561129RCV001697298RCV003491999
NM_000455.5(STK11):c.1129G>C (p.Ala377Pro) SNV
Germline		 Chr19:1226474 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA045509 rs_768870802

7 SubmittersRCV000227141RCV000564880RCV002288910
NM_000455.5(STK11):c.1245C>T (p.Arg415=) SNV
Germline		 Chr19:1226590 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10583793 rs_878853985

6 SubmittersRCV000234173RCV000562946
NM_000455.5(STK11):c.1253G>C (p.Cys418Ser) SNV
Germline		 Chr19:1226598 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA10583794 rs_878853986

8 SubmittersRCV000231843RCV001184074RCV001753688RCV003492000
NM_000455.5(STK11):c.541A>G (p.Asn181Asp) SNV
Germline		 Chr19:1220449 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA10586375 rs_886037926

1 SubmittersRCV000240843
NM_000455.5(STK11):c.542A>G (p.Asn181Ser) SNV
Germline		 Chr19:1220450 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10586687 rs_886037859

5 SubmittersRCV000492112RCV000241351
NM_000455.5(STK11):c.597+1G>T SNV
Germline		 Chr19:1220506 Pathogenic/Likely pathogenic Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588682 rs_886039554

4 SubmittersRCV000254989RCV000700997RCV000492737
NM_000455.5(STK11):c.717G>A (p.Trp239Ter) SNV
Germline		 Chr19:1220700 Pathogenic Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10603426 rs_137853082

4 SubmittersRCV000399421RCV000796535
NM_000455.5(STK11):c.-461G>A SNV
Germline		 Chr19:1206453 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA10642275 rs_552610464

2 SubmittersRCV000272449
NM_000455.5(STK11):c.-2G>T SNV
Germline		 Chr19:1206912 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA046999 rs_774072752

10 SubmittersRCV000288357RCV000492081RCV000436151RCV000586834
NM_000455.5(STK11):c.*413C>A SNV
Germline		 Chr19:1227989 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA10642309 rs_533940465

2 SubmittersRCV000275800RCV005055011
NM_000455.5(STK11):c.375-5C>T SNV
Germline		 Chr19:1219319 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA16042181 rs_1057517626

3 SubmittersRCV000409150
NM_000455.5(STK11):c.921-1G>C SNV
Germline		 Chr19:1222984 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043068 rs_398123406

4 SubmittersRCV000414694RCV000492537RCV001808786
NM_000455.5(STK11):c.735-1G>A SNV
Germline		 Chr19:1221212 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16043164 rs_1057517830

6 SubmittersRCV000413399RCV000492178RCV001380725
NM_000455.5(STK11):c.582C>G (p.Asp194Glu) SNV
Germline		 Chr19:1220490 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 rs_786202134

1 SubmittersRCV005052144
NM_000455.5(STK11):c.109C>T (p.Gln37Ter) SNV
Germline		 Chr19:1207022 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602777 rs_121913324

5 SubmittersRCV000492327RCV000553835RCV004591147
NM_000455.5(STK11):c.595G>T (p.Glu199Ter) SNV
Germline		 Chr19:1220503 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA16602781 rs_121913317

1 SubmittersRCV004796174
NM_000455.5(STK11):c.530T>A (p.Ile177Asn) SNV
Germline		 Chr19:1220438 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 rs_1057520041

1 SubmittersRCV005052143
NM_000455.5(STK11):c.579C>A (p.Ser193=) SNV
Germline		 Chr19:1220487 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA048125 rs_730881961

7 SubmittersRCV000423615RCV001342118RCV000580681
NM_000455.5(STK11):c.711C>G (p.Asp237Glu) SNV
Germline		 Chr19:1220694 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16608016 rs_1057520379

2 SubmittersRCV000444772RCV003507276
NM_000455.5(STK11):c.1032G>A (p.Leu344=) SNV
Germline		 Chr19:1223096 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA044738 rs_371928158

6 SubmittersRCV000424147RCV002525410RCV003584600RCV004999403
NM_000455.5(STK11):c.163C>T (p.Leu55=) SNV
Germline		 Chr19:1207076 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA089266 rs_1057520869

9 SubmittersRCV000420325RCV000548288RCV000771641RCV001355079
NM_000455.5(STK11):c.863-17C>T SNV
Germline		 Chr19:1221932 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16608074 rs_535445817

5 SubmittersRCV000580467RCV000437881RCV002062567
NM_000455.5(STK11):c.1002C>T (p.Ser334=) SNV
Germline		 Chr19:1223066 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16608089 rs_1057521267

6 SubmittersRCV000420777RCV002392978RCV000792638
NM_000455.5(STK11):c.464+15C>T SNV
Germline		 Chr19:1219428 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16608827 rs_1057521355

4 SubmittersRCV000427316RCV001188606RCV001808811
NM_000455.5(STK11):c.766G>T (p.Glu256Ter) SNV
Germline		 Chr19:1221244 Pathogenic Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16608830 rs_1057520606

2 SubmittersRCV000423599RCV003138001
NM_000455.5(STK11):c.869T>C (p.Leu290Pro) SNV
Germline		 Chr19:1221955 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16608838 rs_1057524439

6 SubmittersRCV000434265RCV001362693RCV002374723
NM_000455.5(STK11):c.*6G>A SNV
Germline		 Chr19:1226653 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16608852 rs_1057523753

4 SubmittersRCV000432723RCV000582343RCV001808824
NM_000455.5(STK11):c.*9G>A SNV
Germline		 Chr19:1226656 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
STK11-related disorder
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16608853 rs_1057522868

5 SubmittersRCV003441854RCV004017618RCV003897906RCV005421770
NM_000455.5(STK11):c.125G>T (p.Arg42Leu) SNV
Germline		 Chr19:1207038 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Malignant tumor of breast		 Criteria Provided
Conflicting Classifications
 CA046189 rs_148830698

11 SubmittersRCV000483419RCV000460664RCV000566963RCV000766867RCV001357284
NM_000455.5(STK11):c.156G>T (p.Gly52=) SNV
Germline		 Chr19:1207069 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16616007 rs_1060499953

3 SubmittersRCV000465420RCV000573421
NM_000455.5(STK11):c.375-5C>A SNV
Germline		 Chr19:1219319 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16616010 rs_1057517626

2 SubmittersRCV000471772RCV005492829
NM_000455.5(STK11):c.827G>T (p.Gly276Val) SNV
Germline		 Chr19:1221305 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA049046 rs_749927908

9 SubmittersRCV000459041RCV000487182RCV000572801RCV001260426
NM_000455.5(STK11):c.375-9G>T SNV
Germline		 Chr19:1219315 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16616013 rs_1060503782

3 SubmittersRCV001460356RCV003441890RCV003584617
NM_000455.5(STK11):c.464+3G>A SNV
Germline		 Chr19:1219416 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16616014 rs_1060499956

7 SubmittersRCV000474445RCV000581483
NM_000455.5(STK11):c.465-10C>G SNV
Germline		 Chr19:1220363 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Malignant tumor of breast
Hereditary cancer-predisposing syndrome
Breast and/or ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA16616016 rs_1060503780

5 SubmittersRCV000459363RCV001357591RCV001181771RCV003492063
NM_000455.5(STK11):c.489C>T (p.Gly163=) SNV
Germline		 Chr19:1220397 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16616017 rs_1060499959

6 SubmittersRCV000458820RCV000561025RCV004999420
NM_000455.5(STK11):c.1251C>T (p.Ala417=) SNV
Germline		 Chr19:1226596 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
STK11-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16616019 rs_1060503786

8 SubmittersRCV000566439RCV001079780RCV003942500RCV005420500
NM_000455.5(STK11):c.558C>A (p.Thr186=) SNV
Germline		 Chr19:1220466 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA048071 rs_749563734

3 SubmittersRCV000462060RCV005278565
NM_000455.5(STK11):c.750G>A (p.Thr250=) SNV
Germline		 Chr19:1221228 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA048929 rs_748112446

8 SubmittersRCV000461110RCV000583559RCV005431674RCV004999419
NM_000455.5(STK11):c.944C>T (p.Pro315Leu) SNV
Germline		 Chr19:1223008 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Breast and/or ovarian cancer
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA16616024 rs_766958608

10 SubmittersRCV000457133RCV000567303RCV001284363RCV001527035RCV003150213RCV004745384
NM_000455.5(STK11):c.1195C>A (p.Gln399Lys) SNV
Germline		 Chr19:1226540 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Malignant tumor of testis
Carcinoma of pancreas
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA16616036 rs_1060499968

7 SubmittersRCV000458053RCV000579669RCV000765434RCV004591284
NM_000455.5(STK11):c.43G>A (p.Gly15Ser) SNV
Germline		 Chr19:1206956 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16616212 rs_1060499970

7 SubmittersRCV000471272RCV001022426
NM_000455.5(STK11):c.71C>T (p.Thr24Met) SNV
Germline		 Chr19:1206984 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 1
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA048511 rs_770503805

10 SubmittersRCV000472539RCV000568581RCV003477937RCV004567933RCV004745383
NM_000455.5(STK11):c.407T>C (p.Met136Thr) SNV
Germline		 Chr19:1219356 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA16616220 rs_1060499958

5 SubmittersRCV000463079RCV000520340RCV000492630
NM_000455.5(STK11):c.1071G>T (p.Glu357Asp) SNV
Germline/somatic		 Chr19:1223135 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Condition: not provided
Peutz-Jeghers syndrome
Lip and oral cavity carcinoma
not specified		 Criteria Provided
Conflicting Classifications
 CA045047 rs_556651007

12 SubmittersRCV000571538RCV001356730RCV000833846RCV001082664RCV001255638RCV002268095
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys) SNV
Germline		 Chr19:1226588 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA16616246 rs_864622448

12 SubmittersRCV000469436RCV000484937RCV000570343RCV003155182
NM_000455.5(STK11):c.317G>A (p.Arg106Gln) SNV
Germline		 Chr19:1218443 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary breast ovarian cancer syndrome		 Criteria Provided
Conflicting Classifications
 CA047077 rs_375622587

7 SubmittersRCV000796866RCV000479549RCV000573267RCV005625626
NM_000455.5(STK11):c.358G>T (p.Glu120Ter) SNV
Germline		 Chr19:1218484 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620744 rs_775595174

4 SubmittersRCV000492438RCV000480132RCV001809438
NM_000455.5(STK11):c.630C>A (p.Cys210Ter) SNV
Germline		 Chr19:1220613 Pathogenic/Likely pathogenic Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16620750 rs_786201213

4 SubmittersRCV000482087RCV000807012RCV002367637
NM_000455.5(STK11):c.735-18C>T SNV
Germline		 Chr19:1221195 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16620751 rs_1064795971

3 SubmittersRCV000486231RCV003617816
NM_000455.5(STK11):c.863-14C>G SNV
Germline		 Chr19:1221935 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16620752 rs_756001994

5 SubmittersRCV000480152RCV001185055RCV001809435
NM_000455.5(STK11):c.911G>A (p.Arg304Gln) SNV
Germline		 Chr19:1221997 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
STK11-related disorder
not specified
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Germ cell tumor of testis
Familial pancreatic carcinoma		 Criteria Provided
Conflicting Classifications
 CA049492 rs_376280361

11 SubmittersRCV000479636RCV000569076RCV000536973RCV003409655RCV003493594RCV005398689
NM_000455.5(STK11):c.1168G>C (p.Val390Leu) SNV
Germline		 Chr19:1226513 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA16620758 rs_374078532

5 SubmittersRCV000482762RCV001010118RCV001809431
NM_000455.5(STK11):c.904C>T (p.Gln302Ter) SNV
Germline		 Chr19:1221990 Pathogenic Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951286 rs_1085307466

3 SubmittersRCV000489355RCV004023237
NM_000455.5(STK11):c.180C>A (p.Tyr60Ter) SNV
Germline		 Chr19:1207093 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402944198 rs_778376925

3 SubmittersRCV000550769RCV000492762
NM_000455.5(STK11):c.180C>G (p.Tyr60Ter) SNV
Germline		 Chr19:1207093 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402944201 rs_778376925

5 SubmittersRCV000492522RCV000540715
NM_000455.5(STK11):c.290+1G>A SNV
Germline		 Chr19:1207204 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402944662 rs_1131690950

6 SubmittersRCV000492614RCV000533344
NM_000455.5(STK11):c.367C>T (p.Gln123Ter) SNV
Germline		 Chr19:1218493 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402947913 rs_1131690925

3 SubmittersRCV000492251RCV001856951
NM_000455.5(STK11):c.374+1A>G SNV
Germline		 Chr19:1218501 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402947962 rs_1131690951

4 SubmittersRCV000492655RCV001214909
NM_000455.5(STK11):c.481A>T (p.Ile161Phe) SNV
Germline		 Chr19:1220389 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402948829 rs_1131690938

3 SubmittersRCV000492167RCV001809447RCV000522813
NM_000455.5(STK11):c.543C>G (p.Asn181Lys) SNV
Germline		 Chr19:1220451 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402949111 rs_730881973

3 SubmittersRCV000492674RCV000819570
NM_000455.5(STK11):c.598-2A>G SNV
Germline		 Chr19:1220579 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402949381 rs_1131690934

3 SubmittersRCV001389743RCV000492574
NM_000455.5(STK11):c.640C>T (p.Gln214Ter) SNV
Germline		 Chr19:1220623 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402949571 rs_1131690923

5 SubmittersRCV001269112RCV000492400
NM_000455.5(STK11):c.658C>T (p.Gln220Ter) SNV
Germline		 Chr19:1220641 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402949656 rs_1131690940

8 SubmittersRCV000492208RCV000557192RCV001548233
NM_000455.5(STK11):c.862+1G>T SNV
Germline/somatic		 Chr19:1221341 Pathogenic Peutz-Jeghers syndrome
Neoplasm
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402950789 rs_1131690921

4 SubmittersRCV000807365RCV004669005RCV000492404
NM_000455.5(STK11):c.911G>C (p.Arg304Pro) SNV
Germline		 Chr19:1221997 Pathogenic/Likely pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
STK11-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951309 rs_376280361

5 SubmittersRCV003507284RCV000492320RCV003105924RCV004722832
NM_000455.5(STK11):c.913C>T (p.Gln305Ter) SNV
Germline		 Chr19:1221999 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951315 rs_1131690945

4 SubmittersRCV000492604RCV001386709RCV000657704
NM_000455.5(STK11):c.920+1G>A SNV
Germline		 Chr19:1222007 Pathogenic/Likely pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951344 rs_1131690920

5 SubmittersRCV000709574RCV000492545
NM_000455.5(STK11):c.189G>A (p.Val63=) SNV
Germline		 Chr19:1207102 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA504706290 rs_1342321548

6 SubmittersRCV000507883RCV000524668RCV002275065RCV002413390
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) SNV
Germline		 Chr19:1221332 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402950753 rs_1555738724

4 SubmittersRCV000508448RCV000697905RCV002413391
NM_000455.5(STK11):c.942T>C (p.Pro314=) SNV
Germline		 Chr19:1223006 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA504707725 rs_1256260277

6 SubmittersRCV000507813RCV001125997RCV005286110
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn) SNV
Germline		 Chr19:1223127 Conflicting classifications of pathogenicity not specified
Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA044986 rs_769403473

7 SubmittersRCV000505996RCV000815148RCV002292557RCV002413389
NM_000455.5(STK11):c.1286C>T (p.Ala429Val) SNV
Germline		 Chr19:1226631 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA046314 rs_757369900

5 SubmittersRCV000508410RCV001189892RCV001809460
NM_000455.5(STK11):c.921-2A>C SNV
Germline		 Chr19:1222983 Pathogenic Peutz-Jeghers syndrome No Assertion Criteria Provided
 CA402951414 rs_727504172

1 SubmittersRCV000664331
NM_000455.5(STK11):c.657C>T (p.Phe219=) SNV
Germline		 Chr19:1220640 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA504892395 rs_1326889544

6 SubmittersRCV000582765RCV000551464RCV003478133
NM_000455.5(STK11):c.1153G>A (p.Gly385Ser) SNV
Germline		 Chr19:1226498 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified		 Criteria Provided
Conflicting Classifications
 CA045647 rs_763586612

4 SubmittersRCV000544191RCV002350195RCV003321646
NM_000455.5(STK11):c.1263C>T (p.Ser421=) SNV
Germline		 Chr19:1226608 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA504708547 rs_1472814508

5 SubmittersRCV000529471RCV000568011RCV003105945
NM_000455.5(STK11):c.399G>A (p.Val133=) SNV
Germline		 Chr19:1219348 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA504706596 rs_757021648

5 SubmittersRCV000557301RCV000575495
NM_000455.5(STK11):c.862+4G>A SNV
Germline		 Chr19:1221344 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA658656762 rs_1555738736

5 SubmittersRCV000529853RCV000679325RCV004023777
NM_000455.5(STK11):c.1211C>A (p.Ser404Tyr) SNV
Germline		 Chr19:1226556 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402953753 rs_200078204

3 SubmittersRCV000525214RCV001010339
NM_000455.5(STK11):c.1244G>A (p.Arg415His) SNV
Germline		 Chr19:1226589 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA046095 rs_775978755

7 SubmittersRCV000551966RCV000568457RCV002305502RCV003459197
NM_000455.5(STK11):c.947C>G (p.Ala316Gly) SNV
Germline		 Chr19:1223011 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Melanoma, cutaneous malignant, susceptibility to, 1
Peutz-Jeghers syndrome
Familial pancreatic carcinoma
Germ cell tumor of testis		 Criteria Provided
Conflicting Classifications
 CA049785 rs_751709130

10 SubmittersRCV000539597RCV001019381RCV001552945RCV002282206RCV005398780
NM_000455.5(STK11):c.1139A>G (p.Asn380Ser) SNV
Germline		 Chr19:1226484 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402953284 rs_1247102370

5 SubmittersRCV000556098RCV000774976
NM_000455.5(STK11):c.24G>C (p.Gln8His) SNV
Germline		 Chr19:1206937 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402943086 rs_1379630288

2 SubmittersRCV000554676RCV004023776
NM_000455.5(STK11):c.427G>A (p.Val143Met) SNV
Germline		 Chr19:1219376 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402948278 rs_779987540

8 SubmittersRCV000545253RCV000579569RCV001269189RCV001836837
NM_000455.5(STK11):c.588C>T (p.Gly196=) SNV
Germline		 Chr19:1220496 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
not specified
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Familial pancreatic carcinoma
Germ cell tumor of testis		 Criteria Provided
Conflicting Classifications
 CA048156 rs_769309428

8 SubmittersRCV000532733RCV001290518RCV000572275RCV005398779
NM_000455.5(STK11):c.1236C>T (p.Asn412=) SNV
Germline		 Chr19:1226581 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402953913 rs_1158714606

5 SubmittersRCV000553180RCV001731751RCV002367786
NM_000455.5(STK11):c.30C>T (p.Gly10=) SNV
Germline		 Chr19:1206943 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA504706077 rs_876660012

3 SubmittersRCV000575435RCV001858142
NM_000455.5(STK11):c.618G>C (p.Ala206=) SNV
Germline		 Chr19:1220601 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA048389 rs_370976710

5 SubmittersRCV000571887RCV001125011
NM_000455.5(STK11):c.735-5T>C SNV
Germline		 Chr19:1221208 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA658656755 rs_1555738608

2 SubmittersRCV000561092RCV005427057
NM_000455.5(STK11):c.1222G>A (p.Gly408Ser) SNV
Germline		 Chr19:1226567 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA046029 rs_749463771

5 SubmittersRCV000573130RCV001049296
NM_000455.5(STK11):c.108C>G (p.Tyr36Ter) SNV
Germline		 Chr19:1207021 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402943853 rs_137853079

2 SubmittersRCV000574820RCV003507297
NM_000455.5(STK11):c.375-5C>G SNV
Germline		 Chr19:1219319 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA658656741 rs_1057517626

2 SubmittersRCV000561321RCV002060413
NM_000455.5(STK11):c.863-4T>C SNV
Germline		 Chr19:1221945 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA049349 rs_778853572

7 SubmittersRCV000569688RCV001500939RCV003478271
NM_000455.5(STK11):c.1213A>G (p.Arg405Gly) SNV
Germline		 Chr19:1226558 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402953765 rs_376718324

4 SubmittersRCV000570180RCV000690183
NM_000455.5(STK11):c.1135C>A (p.His379Asn) SNV
Germline		 Chr19:1226480 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA045534 rs_762124698

7 SubmittersRCV000581087RCV001224935RCV001328411RCV004773030
NM_000455.5(STK11):c.923G>A (p.Trp308Ter) SNV
Germline		 Chr19:1222987 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951422 rs_864622488

5 SubmittersRCV000584565RCV001270017RCV001809686
NM_000455.5(STK11):c.464G>A (p.Gly155Glu) SNV
Germline		 Chr19:1219413 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402948399 rs_1555737830

6 SubmittersRCV000582858RCV000757931RCV005000353
NM_000455.5(STK11):c.598-14C>T SNV
Germline		 Chr19:1220567 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA048245 rs_769378511

8 SubmittersRCV000583412RCV001619803RCV001809684
NM_000455.5(STK11):c.1108+11C>T SNV
Germline		 Chr19:1223183 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome
Familial ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA045222 rs_368857989

4 SubmittersRCV000582669RCV000608930RCV001860102RCV005357767
NM_000455.5(STK11):c.1117C>T (p.Pro373Ser) SNV
Germline		 Chr19:1226462 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402953142 rs_1287849806

4 SubmittersRCV000581593RCV001853943
NM_000455.5(STK11):c.419T>C (p.Leu140Pro) SNV
Germline		 Chr19:1219368 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402948248 rs_1555737790

1 SubmittersRCV000632845
NM_000455.5(STK11):c.458C>A (p.Ala153Asp) SNV
Germline		 Chr19:1219407 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA402948383 rs_1555737824

3 SubmittersRCV000632806
NM_000455.5(STK11):c.256C>T (p.Arg86Ter) SNV
Germline		 Chr19:1207169 Pathogenic Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402944528 rs_1057520039

4 SubmittersRCV000632832RCV003459509
NM_000455.5(STK11):c.468C>G (p.Tyr156Ter) SNV
Germline		 Chr19:1220376 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA402948779 rs_786201349

3 SubmittersRCV000632808
NM_000455.5(STK11):c.598-1G>A SNV
Germline		 Chr19:1220580 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402949386 rs_1555738319

2 SubmittersRCV000632836RCV003362870
NM_000455.5(STK11):c.920G>A (p.Ser307Asn) SNV
Germline		 Chr19:1222006 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402951339 rs_1248289980

3 SubmittersRCV000632810RCV001019004
NM_000455.5(STK11):c.840C>T (p.Pro280=) SNV
Germline		 Chr19:1221318 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA504707297 rs_1471868090

7 SubmittersRCV000759362RCV001490067RCV001017715
NM_000455.5(STK11):c.298C>G (p.Gln100Glu) SNV
Germline		 Chr19:1218424 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
not specified
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA046976 rs_757841535

6 SubmittersRCV000632835RCV000781895RCV000775650
NM_000455.5(STK11):c.1145A>G (p.Gln382Arg) SNV
Germline		 Chr19:1226490 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Familial ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA304033496 rs_985937027

5 SubmittersRCV000632802RCV001017452RCV001355465
NM_000455.5(STK11):c.1250C>G (p.Ala417Gly) SNV
Germline		 Chr19:1226595 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402954018 rs_1166243253

5 SubmittersRCV000632824RCV001182961
NM_000455.5(STK11):c.374+2T>C SNV
Germline		 Chr19:1218502 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402947969 rs_1555737480

5 SubmittersRCV000663005RCV001800843RCV002343410
NM_000455.5(STK11):c.724G>A (p.Gly242Arg) SNV
Germline		 Chr19:1220707 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402949962 rs_878853992

1 SubmittersRCV000690196
NM_000455.5(STK11):c.1182C>T (p.Gly394=) SNV
Germline		 Chr19:1226527 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA045771 rs_376679847

7 SubmittersRCV000696421RCV001010191RCV002462036
NM_000455.5(STK11):c.721G>T (p.Ala241Ser) SNV
Germline		 Chr19:1220704 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA048542 rs_587780721

6 SubmittersRCV000699987RCV001800856RCV001558092RCV002369917
NM_000455.5(STK11):c.1040C>T (p.Ala347Val) SNV
Germline		 Chr19:1223104 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Familial ovarian cancer
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA9039458 rs_587782058

10 SubmittersRCV000700925RCV000775312RCV001356397RCV002286784RCV002222607
NM_000455.5(STK11):c.375-13C>T SNV
Germline		 Chr19:1219311 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA891843677 rs_1568705244

3 SubmittersRCV000709573
NM_000455.5(STK11):c.693C>T (p.Phe231=) SNV
Germline		 Chr19:1220676 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA504892276 rs_1568708275

6 SubmittersRCV000759358RCV001184250RCV001085136
NM_000455.5(STK11):c.725G>A (p.Gly242Glu) SNV
Germline		 Chr19:1220708 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402949967 rs_1568708382

4 SubmittersRCV000780764RCV000759359RCV002386321
NM_000455.5(STK11):c.-9G>A SNV
Germline		 Chr19:1206905 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA049895 rs_770466669

4 SubmittersRCV000775648RCV003320211RCV004001461
NM_000455.5(STK11):c.854T>G (p.Leu285Arg) SNV
Germline		 Chr19:1221332 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402950752 rs_1555738724

2 SubmittersRCV000772942RCV002534043
NM_000455.5(STK11):c.890G>A (p.Arg297Lys) SNV
Germline		 Chr19:1221976 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402951238 rs_1568710381

3 SubmittersRCV000774875RCV000809778
NM_000455.5(STK11):c.1129G>A (p.Ala377Thr) SNV
Germline		 Chr19:1226474 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA304033486 rs_768870802

4 SubmittersRCV000775662RCV001302122
NM_000455.5(STK11):c.374+13G>A SNV
Germline		 Chr19:1218513 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA913188963 rs_1568703690

2 SubmittersRCV000777391RCV002068532
NM_000455.5(STK11):c.375-11T>C SNV
Germline		 Chr19:1219313 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA047388 rs_773615399

2 SubmittersRCV000771342RCV002061049
NM_000455.5(STK11):c.291-13C>T SNV
Germline		 Chr19:1218404 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA631031680 rs_1332978515

5 SubmittersRCV000774877RCV002534163
NM_000455.5(STK11):c.598-10A>G SNV
Germline		 Chr19:1220571 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA783334755 rs_1423679676

2 SubmittersRCV000773736RCV005427268
NM_000455.5(STK11):c.498C>G (p.Tyr166Ter) SNV
Germline		 Chr19:1220406 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402948884 rs_1555738205

2 SubmittersRCV000818713RCV004949999
NM_000455.5(STK11):c.940C>T (p.Pro314Ser) SNV
Germline		 Chr19:1223004 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA049758 rs_758416485

5 SubmittersRCV000795455RCV001019285
NM_000455.5(STK11):c.1247A>G (p.Lys416Arg) SNV
Germline		 Chr19:1226592 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402953997 rs_1446554442

6 SubmittersRCV000804493RCV001010536RCV001284240
NM_000455.5(STK11):c.69C>T (p.Asp23=) SNV
Germline		 Chr19:1206982 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA504706093 rs_1599914867

6 SubmittersRCV000945074RCV001025895
NM_000455.5(STK11):c.894C>G (p.Phe298Leu) SNV
Germline		 Chr19:1221980 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402951255 rs_199681533

5 SubmittersRCV001185567RCV001495350
NM_000455.5(STK11):c.863-5C>T SNV
Germline		 Chr19:1221944 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA915951592 rs_1599928248

3 SubmittersRCV000990130
NM_000455.5(STK11):c.375-8C>T SNV
Germline		 Chr19:1219316 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA047451 rs_528370544

3 SubmittersRCV000941930RCV005251237
NM_000455.5(STK11):c.863-8C>T SNV
Germline		 Chr19:1221941 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA631033080 rs_1224729035

5 SubmittersRCV001176140RCV001478697
NM_000455.5(STK11):c.252G>A (p.Lys84=) SNV
Germline		 Chr19:1207165 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA504706323 rs_1320808027

4 SubmittersRCV001015849RCV001433718RCV004997538
NM_000455.5(STK11):c.384G>C (p.Val128=) SNV
Germline		 Chr19:1219333 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA504706593 rs_1599925298

5 SubmittersRCV000975904RCV003478597RCV002363488
NM_000455.5(STK11):c.399G>T (p.Val133=) SNV
Germline		 Chr19:1219348 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA047496 rs_757021648

3 SubmittersRCV000976921RCV004997539
NM_000455.5(STK11):c.715T>G (p.Trp239Gly) SNV
Germline		 Chr19:1220698 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402949927 rs_745622138

2 SubmittersRCV001026100RCV005093274
NM_000455.5(STK11):c.956C>T (p.Pro319Leu) SNV
Germline		 Chr19:1223020 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402951535 rs_1181445340

3 SubmittersRCV001860946RCV001019501RCV004789346
NM_000455.5(STK11):c.1001G>A (p.Ser334Asn) SNV
Germline		 Chr19:1223065 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402951669 rs_1342275430

3 SubmittersRCV001009635RCV003617868
NM_000455.5(STK11):c.1217C>G (p.Ala406Gly) SNV
Germline		 Chr19:1226562 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
not specified
Melanoma, cutaneous malignant, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402953796 rs_748202003

5 SubmittersRCV001050408RCV002465820RCV003467590RCV001010375
NM_000455.5(STK11):c.863-3C>T SNV
Germline		 Chr19:1221946 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA915951593 rs_1599928254

4 SubmittersRCV001018108RCV001809918
NM_000455.5(STK11):c.289A>T (p.Lys97Ter) SNV
Germline		 Chr19:1207202 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402944654 rs_2080673604

1 SubmittersRCV001057998
NM_000455.5(STK11):c.354C>G (p.Tyr118Ter) SNV
Germline		 Chr19:1218480 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402947840 rs_1555737439

2 SubmittersRCV001067850RCV005492933
NM_000455.5(STK11):c.394T>C (p.Cys132Arg) SNV
Germline		 Chr19:1219343 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402948154 rs_2080765290

1 SubmittersRCV001056706
NM_000455.5(STK11):c.396C>G (p.Cys132Trp) SNV
Germline		 Chr19:1219345 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402948163 rs_730881969

2 SubmittersRCV001049876RCV003478675
NM_000455.5(STK11):c.678C>A (p.Asn226Lys) SNV
Germline		 Chr19:1220661 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402949748 rs_748832988

2 SubmittersRCV001046718RCV003160355
NM_000455.5(STK11):c.860A>G (p.Lys287Arg) SNV
Germline		 Chr19:1221338 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402950772 rs_1349316725

4 SubmittersRCV002445336RCV001064819
NM_000455.5(STK11):c.291-2A>C SNV
Germline		 Chr19:1218415 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402947612 rs_876658584

1 SubmittersRCV001037969
NM_000455.5(STK11):c.598-2A>C SNV
Germline		 Chr19:1220579 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402949380 rs_1131690934

1 SubmittersRCV001041182
NM_000455.5(STK11):c.*332C>T SNV
Germline		 Chr19:1227908 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA304035606 rs_1034644018

2 SubmittersRCV001122346RCV004556077
NM_000455.5(STK11):c.1194G>T (p.Ala398=) SNV
Germline		 Chr19:1226539 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA504708532 rs_184271025

4 SubmittersRCV001191688RCV005094016RCV004998713
NM_000455.5(STK11):c.1228G>A (p.Ala410Thr) SNV
Germline		 Chr19:1226573 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome
Condition: not provided
STK11-related disorder		 Criteria Provided
Conflicting Classifications
 CA402953860 rs_2080823389

7 SubmittersRCV001181689RCV001360003RCV002259382RCV004726927
NM_000455.5(STK11):c.464+1G>A SNV
Germline		 Chr19:1219414 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402948405 rs_730881971

2 SubmittersRCV001185859RCV001377432
NM_000455.5(STK11):c.862+9C>T SNV
Germline		 Chr19:1221349 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA913188977 rs_2080783149

3 SubmittersRCV001178214RCV003617898
NM_000455.5(STK11):c.465-19G>A SNV
Germline		 Chr19:1220354 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA047876 rs_776367814

2 SubmittersRCV001875911RCV001178796
NM_000455.5(STK11):c.465-11G>A SNV
Germline		 Chr19:1220362 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA913188980 rs_2080773735

2 SubmittersRCV001185105RCV005423885
NM_000455.5(STK11):c.465-7C>G SNV
Germline		 Chr19:1220366 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA1139666185 rs_864622317

2 SubmittersRCV001190834RCV001859145
NM_000455.5(STK11):c.314T>G (p.Leu105Ter) SNV
Germline		 Chr19:1218440 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402947688 rs_2080758521

1 SubmittersRCV001209963
NM_000455.5(STK11):c.290+1G>T SNV
Germline		 Chr19:1207204 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402944664 rs_1131690950

2 SubmittersRCV001239135RCV002436941
NM_000455.5(STK11):c.864G>A (p.Gly288=) SNV
Germline		 Chr19:1221950 Conflicting classifications of pathogenicity Condition: not provided
Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA504707675 rs_2080787350

5 SubmittersRCV001284362RCV001453862RCV002375325
NM_000455.5(STK11):c.1226G>T (p.Arg409Leu) SNV
Germline		 Chr19:1226571 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402953850 rs_587782364

3 SubmittersRCV001309659RCV003469535RCV004671330
NM_000455.5(STK11):c.580G>C (p.Asp194His) SNV
Germline		 Chr19:1220488 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402949259 rs_121913315

2 SubmittersRCV001327886RCV002070151
NM_000455.5(STK11):c.818C>T (p.Ala273Val) SNV
Germline		 Chr19:1221296 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Melanoma, cutaneous malignant, susceptibility to, 1		 Criteria Provided
Conflicting Classifications
 CA049024 rs_761164605

6 SubmittersRCV001320760RCV003166854RCV001773639RCV003462893
NM_000455.5(STK11):c.11T>C (p.Val4Ala) SNV
Germline		 Chr19:1206924 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402942988 rs_1599914720

2 SubmittersRCV001346665RCV002350638
NM_000455.5(STK11):c.735C>T (p.Leu245=) SNV
Germline		 Chr19:1221213 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA048887 rs_773147894

2 SubmittersRCV001361424RCV003375262
NM_000455.5(STK11):c.863-1G>C SNV
Germline		 Chr19:1221948 Pathogenic/Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA402951139 rs_863224448

2 SubmittersRCV001376748
NM_000455.5(STK11):c.291-1G>C SNV
Germline		 Chr19:1218416 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA304024177 rs_112675807

1 SubmittersRCV001389316
NM_000455.5(STK11):c.334C>T (p.Gln112Ter) SNV
Germline		 Chr19:1218460 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA089331 rs_771049807

4 SubmittersRCV001389317RCV005493039
NM_000455.5(STK11):c.734+1G>A SNV
Germline		 Chr19:1220718 Pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402950017 rs_587782018

4 SubmittersRCV001380249RCV002384545
NM_000455.5(STK11):c.788T>A (p.Leu263Ter) SNV
Germline		 Chr19:1221266 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402950503 rs_1226608647

1 SubmittersRCV001384681
NM_000455.5(STK11):c.597+9G>T SNV
Germline		 Chr19:1220514 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA631299473 rs_863224361

3 SubmittersRCV001438427RCV004017838
NM_000455.5(STK11):c.852C>T (p.Asp284=) SNV
Germline		 Chr19:1221330 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA504707339 rs_2145427244

4 SubmittersRCV001430785RCV004038289RCV004770152
NM_000455.5(STK11):c.1109-7C>G SNV
Germline		 Chr19:1226447 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA2499225356 rs_922706582

2 SubmittersRCV001430762
NM_000455.5(STK11):c.1109-4C>A SNV
Germline		 Chr19:1226450 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA2499225358 rs_1407794756

4 SubmittersRCV001474572RCV001525825
NM_000455.5(STK11):c.345T>C (p.Asp115=) SNV
Germline		 Chr19:1218471 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA504706565 rs_2145420737

5 SubmittersRCV001506864RCV001806214RCV002334565
NM_000455.5(STK11):c.375-7G>T SNV
Germline		 Chr19:1219317 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA631032067 rs_587781176

2 SubmittersRCV001525230RCV005094690
NM_000455.5(STK11):c.735-6A>G SNV
Germline		 Chr19:1221207 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA2573054712 rs_2145426686

1 SubmittersRCV001838842
NM_000455.5(STK11):c.374+12G>A SNV
Germline		 Chr19:1218512 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Familial pancreatic carcinoma
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA047254 rs_568625247

2 SubmittersRCV001962635RCV005361850
NM_000455.5(STK11):c.946G>A (p.Ala316Thr) SNV
Germline		 Chr19:1223010 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402951500 rs_864622303

2 SubmittersRCV001864265RCV002449486
NM_000455.5(STK11):c.597+2T>A SNV
Germline		 Chr19:1220507 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402949336 rs_2145424716

1 SubmittersRCV001864977
NM_000455.5(STK11):c.956C>A (p.Pro319Gln) SNV
Germline		 Chr19:1223020 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402951532 rs_1181445340

2 SubmittersRCV002020029RCV002386880
NM_000455.5(STK11):c.916C>T (p.His306Tyr) SNV
Germline		 Chr19:1222002 Pathogenic/Likely pathogenic Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951325 rs_2145428869

2 SubmittersRCV001878747RCV005493124
NM_000455.5(STK11):c.290+1G>C SNV
Germline		 Chr19:1207204 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA402944663 rs_1131690950

2 SubmittersRCV001864373
NM_000455.5(STK11):c.454C>T (p.Gln152Ter) SNV
Germline		 Chr19:1219403 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402948372 rs_2145422504

1 SubmittersRCV001951192
NM_000455.5(STK11):c.19C>T (p.Gln7Ter) SNV
Germline		 Chr19:1206932 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA402943051 rs_2080669968

2 SubmittersRCV001890059
NM_000455.5(STK11):c.735-12C>G SNV
Germline		 Chr19:1221201 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA048792 rs_764712846

2 SubmittersRCV002140882
NM_000455.5(STK11):c.148C>T (p.Leu50=) SNV
Germline		 Chr19:1207061 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA504706167 rs_2145405165

2 SubmittersRCV002167596RCV004999622
NM_000455.5(STK11):c.444C>T (p.Phe148=) SNV
Germline		 Chr19:1219393 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA504706615 rs_1283208395

3 SubmittersRCV002211734
NM_000455.5(STK11):c.1109-16G>A SNV
Germline		 Chr19:1226438 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA2573155781 rs_2145435730

2 SubmittersRCV002207571RCV004017897
NM_000455.5(STK11):c.863-12G>A SNV
Germline		 Chr19:1221937 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA049298 rs_753729414

4 SubmittersRCV002109495RCV002256920
NM_000455.5(STK11):c.921-5T>C SNV
Germline		 Chr19:1222980 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA2573155777 rs_2145430591

3 SubmittersRCV002165032RCV003161354
NM_000455.5(STK11):c.290+18G>T SNV
Germline		 Chr19:1207221 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA2573155843 rs_757929417

2 SubmittersRCV002197172RCV004017894
NM_000455.5(STK11):c.876C>G (p.Tyr292Ter) SNV
Germline		 Chr19:1221962 Pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951192 rs_148928808

5 SubmittersRCV002269107RCV002373063RCV003101532
NM_000455.5(STK11):c.1130C>G (p.Ala377Gly) SNV
Germline		 Chr19:1226475 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402953238 rs_199973552

3 SubmittersRCV002320808RCV003507408
NM_000455.5(STK11):c.465G>A (p.Gly155=) SNV
Germline		 Chr19:1220373 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA504706628 rs_2145424105

2 SubmittersRCV002335104RCV003775943
NM_000455.5(STK11):c.475C>T (p.Gln159Ter) SNV
Germline		 Chr19:1220383 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10575451 rs_2145424136

4 SubmittersRCV002337663RCV003507415
NM_000455.5(STK11):c.816C>A (p.Tyr272Ter) SNV
Germline		 Chr19:1221294 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402950615 rs_9282859

2 SubmittersRCV002421462RCV004796727
NM_000455.5(STK11):c.13G>A (p.Asp5Asn) SNV
Germline		 Chr19:1206926 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA402943001 rs_1399081375

2 SubmittersRCV002389244RCV003095092
NM_000455.5(STK11):c.1090C>T (p.Gln364Ter) SNV
Germline		 Chr19:1223154 Pathogenic Gastric cancer
Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951938 rs_2145431441

4 SubmittersRCV003164592RCV003164591RCV003235727
NM_000455.5(STK11):c.734+5G>A SNV
Germline		 Chr19:1220722 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA2580096100 rs_2145425576

1 SubmittersRCV003064528
NM_000455.5(STK11):c.735-10C>A SNV
Germline		 Chr19:1221203 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA2580096103 rs_553975112

1 SubmittersRCV003064529
NM_000455.5(STK11):c.921-1G>A SNV
Germline		 Chr19:1222984 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402951415 rs_398123406

1 SubmittersRCV003041338
NM_000455.5(STK11):c.1148G>C (p.Arg383Pro) SNV
Germline		 Chr19:1226493 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402953373 rs_730881990

2 SubmittersRCV002590002RCV005288771
NM_000455.5(STK11):c.356A>G (p.Asn119Ser) SNV
Germline		 Chr19:1218482 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA402947847 rs_2145420809

3 SubmittersRCV002642668RCV003167554RCV004817078
NM_000455.5(STK11):c.920+1G>C SNV
Germline		 Chr19:1222007 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402951345 rs_1131690920

1 SubmittersRCV002872251
NM_000455.5(STK11):c.886A>T (p.Lys296Ter) SNV
Germline		 Chr19:1221972 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402951226 rs_2145428724

1 SubmittersRCV002966525
NM_000455.5(STK11):c.920+2T>C SNV
Germline		 Chr19:1222008 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402951351 rs_2145428911

1 SubmittersRCV003017386
NM_000455.5(STK11):c.536C>G (p.Pro179Arg) SNV
Germline		 Chr19:1220444 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402949074 rs_786202466

1 SubmittersRCV003236430
NM_000455.5(STK11):c.290+2T>A SNV
Germline		 Chr19:1207205 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402944666 rs_112235354

2 SubmittersRCV003293654RCV003507494
NM_000455.5(STK11):c.862+1G>A SNV
Unknown		 Chr19:1221341 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402950785 rs_1131690921

1 SubmittersRCV003316947
NM_000455.5(STK11):c.924G>T (p.Trp308Cys) SNV
Germline		 Chr19:1222988 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Multiple Submitters
No Conflicts
 CA402951424 rs_1057520042

2 SubmittersRCV003508874
NM_000455.5(STK11):c.393C>T (p.Tyr131=) SNV
Germline		 Chr19:1219342 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA047465 rs_760399253

4 SubmittersRCV003585827RCV003618099
NM_000455.5(STK11):c.920+3G>A SNV
Germline		 Chr19:1222009 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Conflicting Classifications
 CA2582593825 rs_2080788122

2 SubmittersRCV003585832RCV005425185
NM_000455.5(STK11):c.1165G>A (p.Ala389Thr) SNV
Germline		 Chr19:1226510 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA402953464 rs_1555740118

2 SubmittersRCV003618150RCV005495592
NM_000455.5(STK11):c.862+3G>A SNV
Germline		 Chr19:1221343 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications
 CA2735567081 rs_2145427312

2 SubmittersRCV003618159
NM_000455.5(STK11):c.752G>T (p.Gly251Val) SNV
Germline		 Chr19:1221230 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402950372 rs_730881977

1 SubmittersRCV003617337
NM_000455.5(STK11):c.1109-1G>A SNV
Unknown		 Chr19:1226453 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402953093 rs_2145435791

1 SubmittersRCV004439987
NM_000455.5(STK11):c.498C>A (p.Tyr166Ter) SNV
Unknown		 Chr19:1220406 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402948883 rs_1555738205

1 SubmittersRCV004440198
NM_000455.5(STK11):c.1020C>G (p.Tyr340Ter) SNV
Unknown		 Chr19:1223084 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter
 CA402951731 rs_786202471

1 SubmittersRCV004440412
NM_000455.5(STK11):c.924G>A (p.Trp308Ter) SNV
Germline		 Chr19:1222988 Pathogenic Hereditary cancer-predisposing syndrome
Peutz-Jeghers syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA402951426 rs_1057520042

2 SubmittersRCV004518467RCV005052084
NM_000455.5(STK11):c.500T>C (p.Leu167Pro) SNV
Germline		 Chr19:1220408 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome Criteria Provided
Conflicting Classifications

2 SubmittersRCV004720206
NM_000455.5(STK11):c.298C>T (p.Gln100Ter) SNV
Germline		 Chr19:1218424 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005052139
NM_000455.5(STK11):c.440G>C (p.Arg147Pro) SNV
Germline		 Chr19:1219389 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005052142
NM_000455.5(STK11):c.783C>G (p.Tyr261Ter) SNV
Germline		 Chr19:1221261 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005052146
NM_000455.5(STK11):c.920+2T>G SNV
Germline		 Chr19:1222008 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005052147
NM_000455.5(STK11):c.876C>A (p.Tyr292Ter) SNV
Germline		 Chr19:1221962 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005052148
NM_000455.5(STK11):c.433G>T (p.Glu145Ter) SNV
Germline		 Chr19:1219382 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005118743
NM_000455.5(STK11):c.863-1G>T SNV
Germline		 Chr19:1221948 Likely pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005134938
NM_000455.5(STK11):c.4G>T (p.Glu2Ter) SNV
Germline		 Chr19:1206917 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005178747
NM_000455.5(STK11):c.465-2A>G SNV
Germline		 Chr19:1220371 Pathogenic Peutz-Jeghers syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005203567
NM_000455.5(STK11):c.*7C>T SNV
Germline		 Chr19:1226654 Conflicting classifications of pathogenicity Peutz-Jeghers syndrome
Familial ovarian cancer		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005422604RCV005358549
NM_000455.5(STK11):c.147C>G (p.Tyr49Ter) SNV
Germline		 Chr19:1207060 Pathogenic Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Germ cell tumor of testis
Familial pancreatic carcinoma		 Criteria Provided
Single Submitter

1 SubmittersRCV005393975
NM_000455.5(STK11):c.922T>G (p.Trp308Gly) SNV
Germline		 Chr19:1222986 Likely pathogenic Peutz-Jeghers syndrome
Melanoma, cutaneous malignant, susceptibility to, 1
Germ cell tumor of testis
Familial pancreatic carcinoma		 Criteria Provided
Single Submitter

1 SubmittersRCV005393977