STK11 — 2449 ClinVar variants

All ClinVar germline STK11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 909 flagged for review →

226 Pathogenic · 25 Pathogenic/Likely pathogenic · 66 Likely pathogenic · 303 Conflicting · 78 Benign · 245 Benign/Likely benign · 520 Likely benign · 986 Uncertain significance

Full STK11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 909

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 146

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

STK11 p.Ala153Asp Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Ala206Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala241Ser Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Ala273Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala273Val Conflicting Single submitter
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Ala316Gly Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Ala316Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala318Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala377Gly Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala377Pro Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala377Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala377Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala389Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala397Ser Conflicting Single submitter
Breast and/or ovarian cancer
STK11 p.Ala397Val Conflicting Single submitter
Breast and/or ovarian cancer
STK11 p.Ala398Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala406Gly Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala406Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala406Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala410Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala410Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala410Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala414Thr Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Ala417Gly Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala417Ser Conflicting Single submitter
Breast and/or ovarian cancer
STK11 p.Ala420Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala420Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala420Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala429Gly Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala429Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg104Gly Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg104Trp Conflicting Single submitter
familial pancreatic carcinoma
STK11 p.Arg106Gln Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg211Gln Conflicting Single submitter
exocrine pancreatic carcinoma
STK11 p.Arg297Lys Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Arg301Gln Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg301Trp Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg304Gln Conflicting Single submitter
STK11-related disorder
STK11 p.Arg383Cys Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg383His Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg383Pro Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg384Gln Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg384Pro Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Arg384Trp Conflicting Single submitter
STK11-related disorder
STK11 p.Arg39Leu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg405Gly Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Arg409Gln Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg409Gly Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg409Leu Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Arg409Trp Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg415Cys Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg415Gly Conflicting Single submitter
exocrine pancreatic carcinoma
STK11 p.Arg415His Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg425His Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg426Gly Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg426Trp Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg42Leu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Asn119Asp Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Asn119Ser Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Asn181Thr Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Asn226Lys Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Asn380Lys Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Asn380Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Asn412Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Asp194His Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Asp237Glu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Asp5Asn Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Cys132Trp Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Cys418Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Cys418Trp Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Gln100Glu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Gln305Pro Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Gln382Arg Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Gln399Lys Conflicting Single submitter
testicular cancer
STK11 p.Gln8His Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Glu145Gly Conflicting Single submitter
familial pancreatic carcinoma
STK11 p.Glu2Ala Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Glu376Ala Conflicting Single submitter
Breast and/or ovarian cancer
STK11 p.Gly155Arg Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Gly155Glu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Gly15Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Gly187Ser Conflicting Single submitter
Hereditary cancer
STK11 p.Gly242Glu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Gly251Val Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Gly276Asp Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Gly276Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Gly381Ala Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Gly385Ser Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Gly394Ser Conflicting Single submitter
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Gly408Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.His154Asp Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.His379Asn Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ile161Phe Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Leu167Pro Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Leu184Pro Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Leu285Arg Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Leu285Pro Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Leu290Pro Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Leu9Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Lys287Arg Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Lys403Arg Conflicting Single submitter
STK11-related disorder
STK11 p.Lys416Arg Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Lys83Arg Conflicting Single submitter
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Met136Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Met392Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Met392Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Phe148Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Phe298Leu Conflicting Single submitter
familial pancreatic carcinoma
STK11 p.Pro221Leu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro281Arg Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro281Gln Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro281Leu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro281Ser Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Pro281Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro314Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro315Leu Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Pro319Gln Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Pro319Leu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro324Ala Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro326Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro373Leu Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro373Ser Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Pro411Ala Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro6Arg Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Pro6Ser Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Ser193Ala Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser216Phe Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Ser271Asn Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser307Asn Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser378Asn Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser401Asn Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser404Phe Conflicting Single submitter
Inherited polyposis and early onset colorectal cancer - germline testing
STK11 p.Ser404Pro Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser404Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser404Tyr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser419Phe Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ser428Leu Conflicting Single submitter
Breast and/or ovarian cancer
STK11 p.Ser428Thr Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Thr32Ala Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Thr402Ser Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Trp239Gly Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Val133Met Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Val143Met Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Val150Ala Conflicting Single submitter
STK11-related disorder
STK11 p.Val390Met Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Val4Ala Conflicting Single submitter
Peutz-Jeghers syndrome

Predicted LoF vs a conflicting call 4

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

STK11 c.374+2T>C Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 c.735-6_735-2del Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 c.863-3_863-2dup Conflicting Single submitter
Peutz-Jeghers syndrome
STK11 p.Ter434= Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 571

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 571

STK11 p.Ala206Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala206Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala206Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala218Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala218Thr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Ala225Thr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Ala295Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala318Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala318Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala389Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala397Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala406Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala410Asp Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Ala414Ser Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Ala417Asp Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Ala417Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala417Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala420Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala429Thr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Ala43Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala76Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala93Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg310Gln Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Arg383Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg384Gly Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Arg39Cys Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Arg39Ser Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Arg405Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg409Pro Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Arg415Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg415Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg415Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg426Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg426Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg426Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg42Gly Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Arg42Trp Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Asn247Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asn266Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asn380His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asn393Lys Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Asn393Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asn412Lys Uncertain significance Multiple submitters
STK11-related disorder
STK11 p.Asp115Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp141Glu Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Asp208Asn Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Asp237Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp258Asn Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Asp277Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp277His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp277Tyr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Asp327Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp327Gly Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Asp5Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Cys132Tyr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Cys158Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Cys278Tyr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Cys391Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln100Arg Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Gln100His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln112Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln112His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln170Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln170Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln305Arg Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gln382His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln399His Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gln432His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln8Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu121Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu145Gln Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Glu145Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu14Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu14Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu165Gly Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Glu199Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu223Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu256Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu293Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu2Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu317Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu374Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu374Lys Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Glu375Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu375Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu376Asp Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Glu376Lys Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Glu396Gln Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Glu407Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu70Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu92Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu92Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly10Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly15Asp Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly180Glu Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly187Arg Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly215Val Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly21Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly227Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly233Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly233Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly268Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly370Ala Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly370Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly381Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly381Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly394Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly47Asp Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly47Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly58Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly61Asp Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly61Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly91Arg Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly91Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.His154Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.His168Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.His168Pro Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.His313Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.His379Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.His379Tyr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Ile238Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile274Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile300Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile300Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile303Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile322Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu113Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu117Ser Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Leu160Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu17Val Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Leu184Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu282Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu353Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu386Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu386Ile Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Leu386Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu386Pro Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Leu400Arg Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Leu400Gln Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Leu54Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu9Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu9Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys108Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys146Arg Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Lys175Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys235Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys262Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys388Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys388Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys416Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 188

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 188

STK11 p.Ala200Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala241Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg103Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg106Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg211Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg310Trp Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Arg39His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg425Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg75Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Arg86Gln Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Asn226Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp207Glu Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Asp207Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp23Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp284Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp284His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp30Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp365Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Asp53Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Cys134Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Cys134Tyr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Cys73Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln123Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln123Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln137Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln159Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gln302Leu Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gln37Arg Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gln37His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu120Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu120Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu256Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Glu265Asp Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Glu33Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly171Ser Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly21Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Gly21Cys Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Gly279Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.His202Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.His202Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.His313Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile161Thr Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Ile248Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile267Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile26Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile29Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile35Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile79Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ile88Met Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Leu290Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu45Val Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Leu50Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu80Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Leu80Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys122Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys269Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys287Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys431Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Lys96Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Met125Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Met136Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Met22Arg Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Met51Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Met51Val Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Phe204Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Phe219Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Phe264Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Pro144Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Pro203Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Pro221Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Pro38Ala Uncertain significance Multiple submitters
familial pancreatic carcinoma
STK11 p.Pro38Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Pro38Ser Uncertain significance Multiple submitters
Peutz-Jeghers syndrome
STK11 p.Thr209Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Thr230Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Thr249Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Thr24Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Thr250Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Thr250Met Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Thr32Ile Uncertain significance Multiple submitters
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.Tyr292Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Tyr49Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Val114Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Val320Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
STK11 p.Ala200Val Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Ala205Thr Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Ala205Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg103Thr Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Arg106Trp Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg147Cys Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg147His Conflicting Single submitter
Breast and/or ovarian cancer
STK11 p.Arg211Trp Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg28His Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Arg28Pro Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Arg333Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Arg40Gly Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Arg42Gln Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Arg87Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Asn109His Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Asn119Lys Likely benign Single submitter
hereditary neoplastic syndrome
STK11 p.Asp115Asn Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Asp207Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Asp23Asn Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Asp23His Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Asp258Glu Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Asp330Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Asp343Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Asp53Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Asp68Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Cys391Trp Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Cys73Trp Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Gln433His Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Glu120Ala Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Glu256Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Glu256Gln Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Glu293Lys Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Glu98Lys Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Gly171Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Gly21Val Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Gly279Ala Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Gly288Glu Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Gly288Trp Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Gly52Ala Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.His107Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.His154Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.His202Gln Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.His202Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.His27Gln Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.His27Tyr Uncertain significance Single submitter
melanoma, cutaneous malignant, susceptibility to, 1
STK11 p.His313Arg Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.His345Gln Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Ile177Val Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Ile26Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Ile274Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Ile29Met Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Ile322Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Ile424Thr Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Ile88Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Ile88Val Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Leu101Val Conflicting Single submitter
hereditary neoplastic syndrome
STK11 p.Leu105Phe Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Leu17Pro Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Leu190Val Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Leu195Val Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Leu228Met Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Leu228Val Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Leu54Pro Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Lys122Gln Uncertain significance Single submitter
Peutz-Jeghers syndrome
STK11 p.Lys191Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
STK11 p.Lys311Glu Uncertain significance Single submitter
Peutz-Jeghers syndrome

All STK11 variants

Pathogenic 226

c.290+1G>A Multiple submitters hereditary neoplastic syndrome
c.290+1G>C Multiple submitters Peutz-Jeghers syndrome
c.290+1G>T Multiple submitters hereditary neoplastic syndrome
c.291-1G>A Multiple submitters hereditary neoplastic syndrome
c.291-2A>G Multiple submitters hereditary neoplastic syndrome
c.374+1A>G Multiple submitters Peutz-Jeghers syndrome
c.464+1dup Multiple submitters hereditary neoplastic syndrome
c.464+1G>T Multiple submitters hereditary neoplastic syndrome
c.597+1G>T Multiple submitters hereditary neoplastic syndrome
c.597+2T>A Multiple submitters STK11-related disorder
c.598-1G>A Multiple submitters hereditary neoplastic syndrome
c.598-2A>G Multiple submitters Peutz-Jeghers syndrome
c.734+1G>A Multiple submitters Peutz-Jeghers syndrome
c.862+1G>T Multiple submitters hereditary neoplastic syndrome
c.920+2T>G Multiple submitters Peutz-Jeghers syndrome
c.921-1G>T Multiple submitters hereditary neoplastic syndrome
p.Arg297fs Multiple submitters hereditary neoplastic syndrome
p.Arg304fs Multiple submitters hereditary neoplastic syndrome
p.Arg40fs Multiple submitters hereditary neoplastic syndrome
p.Arg86Ter Multiple submitters Peutz-Jeghers syndrome
p.Asp176Asn Multiple submitters hereditary neoplastic syndrome
p.Asp176fs Multiple submitters Peutz-Jeghers syndrome
p.Asp194Tyr Multiple submitters hereditary neoplastic syndrome
p.Asp258fs Multiple submitters Peutz-Jeghers syndrome
p.Asp53fs Multiple submitters hereditary neoplastic syndrome
p.Cys134fs Multiple submitters hereditary neoplastic syndrome
p.Gln112Ter Multiple submitters hereditary neoplastic syndrome
p.Gln123Ter Multiple submitters Peutz-Jeghers syndrome
p.Gln137Ter Multiple submitters STK11-related disorder
p.Gln159Ter Multiple submitters hereditary neoplastic syndrome
p.Gln214Ter Multiple submitters hereditary neoplastic syndrome
p.Gln220Ter Multiple submitters hereditary neoplastic syndrome
p.Gln302Ter Multiple submitters Peutz-Jeghers syndrome
p.Gln305Ter Multiple submitters Peutz-Jeghers syndrome
p.Gln37Ter Multiple submitters hereditary neoplastic syndrome
p.Gln7Ter Multiple submitters Peutz-Jeghers syndrome
p.Glu130fs Multiple submitters hereditary neoplastic syndrome
p.Glu256Ter Multiple submitters Peutz-Jeghers syndrome
p.Glu293Ter Multiple submitters hereditary neoplastic syndrome
p.Glu33fs Multiple submitters Peutz-Jeghers syndrome
p.Leu140fs Multiple submitters hereditary neoplastic syndrome
p.Leu80fs Multiple submitters Peutz-Jeghers syndrome
p.Lys84Ter Multiple submitters hereditary neoplastic syndrome
p.Lys97fs Multiple submitters Peutz-Jeghers syndrome
p.Phe204fs Multiple submitters hereditary neoplastic syndrome
p.Phe264fs Multiple submitters Peutz-Jeghers syndrome
p.Pro149fs Multiple submitters hereditary neoplastic syndrome
p.Pro179Arg Multiple submitters Peutz-Jeghers syndrome
p.Pro217fs Multiple submitters Peutz-Jeghers syndrome
p.Pro281fs Multiple submitters familial ovarian cancer
p.Ser240Ter Multiple submitters hereditary neoplastic syndrome
p.Ser59_Tyr60insTer Multiple submitters hereditary neoplastic syndrome
p.Trp239Ter Multiple submitters hereditary neoplastic syndrome
p.Trp308Cys Multiple submitters Peutz-Jeghers syndrome
p.Trp308Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr118Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr156Ter Multiple submitters Peutz-Jeghers syndrome
p.Tyr272Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr292Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr49Ter Multiple submitters Peutz-Jeghers syndrome
p.Val243fs Multiple submitters Peutz-Jeghers syndrome
c.291-1G>C Single submitter Peutz-Jeghers syndrome
c.291-1G>T Single submitter Peutz-Jeghers syndrome
c.291-2A>C Single submitter Peutz-Jeghers syndrome
c.465-2A>G Single submitter Peutz-Jeghers syndrome
c.597+1G>A Single submitter hereditary neoplastic syndrome
c.597+2T>G Single submitter Peutz-Jeghers syndrome
c.598-2A>C Single submitter Peutz-Jeghers syndrome
c.671_920+333del Single submitter Peutz-Jeghers syndrome
c.734+1G>C Single submitter hereditary neoplastic syndrome
c.734+5G>A Single submitter Peutz-Jeghers syndrome
c.735-10C>A Single submitter Peutz-Jeghers syndrome
c.735-6A>G Single submitter Peutz-Jeghers syndrome
c.748_920+123del Single submitter Peutz-Jeghers syndrome
c.862+1G>A Single submitter Peutz-Jeghers syndrome
c.862+1G>C Single submitter Peutz-Jeghers syndrome
c.915_920+5delinsCATCCGGCAGATCCGGCAGATGCCGGCAGATCCGGCAGATCCGGCAGATC Single submitter Peutz-Jeghers syndrome
c.920+1del Single submitter Peutz-Jeghers syndrome
c.921-1G>A Single submitter Peutz-Jeghers syndrome
c.921-2A>T Single submitter
c.-1115-?_290+?del Single submitter Peutz-Jeghers syndrome
p.Ala205fs Single submitter Peutz-Jeghers syndrome
p.Ala241fs Single submitter Peutz-Jeghers syndrome
p.Ala295fs Single submitter Peutz-Jeghers syndrome
p.Arg103Ter Single submitter hereditary neoplastic syndrome
p.Arg28fs Single submitter Peutz-Jeghers syndrome
p.Arg301fs Single submitter hereditary neoplastic syndrome
p.Arg86fs Single submitter hereditary neoplastic syndrome
p.Asn119fs Single submitter hereditary neoplastic syndrome
p.Asn181fs Single submitter hereditary neoplastic syndrome
p.Asn226fs Single submitter hereditary neoplastic syndrome
p.Asn266fs Single submitter hereditary neoplastic syndrome
p.Asn90fs Single submitter hereditary neoplastic syndrome
p.Asp194_Ala198del Single submitter Peutz-Jeghers syndrome
p.Asp208fs Single submitter hereditary neoplastic syndrome
p.Asp229fs Single submitter hereditary neoplastic syndrome
p.Asp23fs Single submitter hereditary neoplastic syndrome
p.Asp277_Cys278insTer Single submitter Peutz-Jeghers syndrome
p.Asp5fs Single submitter Peutz-Jeghers syndrome
p.Cys132fs Single submitter Peutz-Jeghers syndrome
p.Cys132Ter Single submitter hereditary neoplastic syndrome
p.Cys210fs Single submitter hereditary neoplastic syndrome
p.Cys278fs Single submitter hereditary neoplastic syndrome
p.Cys73fs Single submitter hereditary neoplastic syndrome
p.Cys73Ter Single submitter hereditary neoplastic syndrome
p.Gln100fs Single submitter Peutz-Jeghers syndrome
p.Gln100Ter Single submitter Peutz-Jeghers syndrome
p.Gln123fs Single submitter hereditary neoplastic syndrome
p.Gln152fs Single submitter Peutz-Jeghers syndrome
p.Gln152Ter Single submitter Peutz-Jeghers syndrome
p.Gln170Ter Single submitter Peutz-Jeghers syndrome
p.Gln214fs Single submitter Peutz-Jeghers syndrome
p.Gln37fs Single submitter Peutz-Jeghers syndrome
p.Glu130Ter Single submitter hereditary neoplastic syndrome
p.Glu145Ter Single submitter Peutz-Jeghers syndrome
p.Glu165fs Single submitter Peutz-Jeghers syndrome
p.Glu199Ter Single submitter Peutz-Jeghers syndrome
p.Glu223fs Single submitter Peutz-Jeghers syndrome
p.Glu256fs Single submitter Peutz-Jeghers syndrome
p.Glu265delinsPhePhePhePhePhePheXaaXaaXaaXaaAlaLeuLeuThrSerTer Single submitter Peutz-Jeghers syndrome
p.Glu265Ter Single submitter Peutz-Jeghers syndrome
p.Glu291_Tyr292insTer Single submitter hereditary neoplastic syndrome
p.Glu2Ter Single submitter Peutz-Jeghers syndrome
p.Glu57Ter Single submitter Peutz-Jeghers syndrome
p.Glu65fs Single submitter hereditary neoplastic syndrome
p.Gly163Asp Single submitter hereditary neoplastic syndrome
p.Gly163fs Single submitter hereditary neoplastic syndrome
p.Gly187fs Single submitter hereditary neoplastic syndrome
p.Gly188fs Single submitter Peutz-Jeghers syndrome
p.Gly242Arg Single submitter Peutz-Jeghers syndrome
p.Gly251fs Single submitter hereditary neoplastic syndrome
p.Gly276fs Single submitter hereditary neoplastic syndrome
p.Gly61fs Single submitter Peutz-Jeghers syndrome
p.His154fs Single submitter hereditary neoplastic syndrome
p.His168fs Single submitter hereditary neoplastic syndrome
p.Ile111fs Single submitter Peutz-Jeghers syndrome
p.Ile192fs Single submitter hereditary neoplastic syndrome
p.Ile300fs Single submitter hereditary neoplastic syndrome
p.Ile322fs Single submitter hereditary neoplastic syndrome
p.Ile88fs Single submitter Peutz-Jeghers syndrome
p.Ile99fs Single submitter Peutz-Jeghers syndrome
p.Leu105Ter Single submitter Peutz-Jeghers syndrome
p.Leu117fs Single submitter Peutz-Jeghers syndrome
p.Leu140Pro Single submitter Peutz-Jeghers syndrome
p.Leu160fs Single submitter hereditary neoplastic syndrome
p.Leu164fs Single submitter Peutz-Jeghers syndrome
p.Leu195fs Single submitter Peutz-Jeghers syndrome
p.Leu201fs Single submitter Peutz-Jeghers syndrome
p.Leu245fs Single submitter Peutz-Jeghers syndrome
p.Leu263fs Single submitter Peutz-Jeghers syndrome
p.Leu263Ter Single submitter Peutz-Jeghers syndrome
p.Leu282fs Single submitter Peutz-Jeghers syndrome
p.Leu45_Tyr49delinsHis Single submitter hereditary neoplastic syndrome
p.Leu45fs Single submitter Peutz-Jeghers syndrome
p.Lys175_Asp176del Single submitter Peutz-Jeghers syndrome
p.Lys178fs Single submitter hereditary neoplastic syndrome
p.Lys262Ter Single submitter melanoma, cutaneous malignant, susceptibility to, 1
p.Lys269fs Single submitter hereditary neoplastic syndrome
p.Lys296fs Single submitter hereditary neoplastic syndrome
p.Lys296Ter Single submitter Peutz-Jeghers syndrome
p.Lys311fs Single submitter hereditary neoplastic syndrome
p.Lys312fs Single submitter Peutz-Jeghers syndrome
p.Lys388fs Single submitter Peutz-Jeghers syndrome
p.Lys41fs Single submitter Peutz-Jeghers syndrome
p.Lys44fs Single submitter Peutz-Jeghers syndrome
p.Lys44Ter Single submitter Peutz-Jeghers syndrome
p.Lys81fs Single submitter hereditary neoplastic syndrome
p.Lys83delinsAlaGlyArgGlyGlySerArgLeuTer Single submitter Peutz-Jeghers syndrome
p.Lys83fs Single submitter hereditary neoplastic syndrome
p.Lys83Ter Single submitter Peutz-Jeghers syndrome
p.Lys97Ter Single submitter Peutz-Jeghers syndrome
p.Met125fs Single submitter Peutz-Jeghers syndrome
p.Met127fs Single submitter Peutz-Jeghers syndrome
p.Met129fs Single submitter Peutz-Jeghers syndrome
p.Met22fs Single submitter Peutz-Jeghers syndrome
p.Phe157fs Single submitter Peutz-Jeghers syndrome
p.Phe255fs Single submitter Peutz-Jeghers syndrome
p.Pro144fs Single submitter Peutz-Jeghers syndrome
p.Pro179_Leu183del Single submitter Peutz-Jeghers syndrome
p.Pro203fs Single submitter Peutz-Jeghers syndrome
p.Pro222fs Single submitter hereditary neoplastic syndrome
p.Pro254fs Single submitter Peutz-Jeghers syndrome
p.Pro275fs Single submitter hereditary neoplastic syndrome
p.Pro280fs Single submitter hereditary neoplastic syndrome
p.Pro314fs Single submitter Peutz-Jeghers syndrome
p.Pro319fs Single submitter Peutz-Jeghers syndrome
p.Pro321fs Single submitter Peutz-Jeghers syndrome
p.Pro324fs Single submitter Peutz-Jeghers syndrome
p.Pro373fs Single submitter Peutz-Jeghers syndrome
p.Ser213fs Single submitter Peutz-Jeghers syndrome
p.Ser216fs Single submitter hereditary neoplastic syndrome
p.Ser232fs Single submitter Peutz-Jeghers syndrome
p.Ser271_Tyr272insTer Single submitter Peutz-Jeghers syndrome
p.Ser378fs Single submitter Peutz-Jeghers syndrome
p.Thr212fs Single submitter Peutz-Jeghers syndrome
p.Thr250fs Single submitter Peutz-Jeghers syndrome
p.Thr32fs Single submitter hereditary neoplastic syndrome
p.Thr71fs Single submitter hereditary neoplastic syndrome
p.Trp239Cys Single submitter Peutz-Jeghers syndrome
p.Trp308fs Single submitter hereditary neoplastic syndrome
p.Tyr118_Glu121delinsTer Single submitter Peutz-Jeghers syndrome
p.Tyr131Ter Single submitter
p.Tyr166Ter Single submitter Peutz-Jeghers syndrome
p.Tyr246_Gly257del Single submitter Peutz-Jeghers syndrome
p.Tyr246Ter Single submitter Peutz-Jeghers syndrome
p.Tyr253_Pro254delinsTer Single submitter Peutz-Jeghers syndrome
p.Tyr253Ter Single submitter
p.Tyr261Ter Single submitter Peutz-Jeghers syndrome
p.Tyr36fs Single submitter hereditary neoplastic syndrome
p.Tyr36Ter Single submitter hereditary neoplastic syndrome
p.Tyr49fs Single submitter Peutz-Jeghers syndrome
p.Tyr60fs Single submitter
p.Tyr60Ter Single submitter hereditary neoplastic syndrome
p.Val110fs Single submitter Peutz-Jeghers syndrome
p.Val143fs Single submitter Peutz-Jeghers syndrome
p.Val66fs Single submitter Peutz-Jeghers syndrome
c.374+2T>A No assertion criteria gastric cancer
c.921-12G>A No assertion criteria
c.921-2A>C No assertion criteria Peutz-Jeghers syndrome
p.Arg147fs No assertion criteria Peutz-Jeghers syndrome
p.Gly135Arg No assertion criteria melanoma, cutaneous malignant, susceptibility to, 1
p.Ile303_His306delinsAsn No assertion criteria Peutz-Jeghers syndrome
p.Met51fs No assertion criteria Peutz-Jeghers syndrome
p.Ser240fs No assertion criteria Peutz-Jeghers syndrome
p.Ser271fs No assertion criteria testicular germ cell tumor
p.Tyr49Asp No assertion criteria melanoma, cutaneous malignant, susceptibility to, 1

Pathogenic/Likely pathogenic 25

c.290+2T>A Multiple submitters Peutz-Jeghers syndrome
c.464+1G>A Multiple submitters hereditary neoplastic syndrome
c.465-1G>A Multiple submitters hereditary neoplastic syndrome
c.734+1G>T Multiple submitters hereditary neoplastic syndrome
c.735-1G>A Multiple submitters hereditary neoplastic syndrome
c.863-1G>C Multiple submitters Peutz-Jeghers syndrome
c.863-2_863-1del Multiple submitters hereditary neoplastic syndrome
c.920+1G>A Multiple submitters hereditary neoplastic syndrome
c.921-1G>C Multiple submitters hereditary neoplastic syndrome
p.300IRQ[1] Multiple submitters Peutz-Jeghers syndrome
p.Arg297Ser Multiple submitters Peutz-Jeghers syndrome
p.Arg304Pro Multiple submitters hereditary neoplastic syndrome
p.Arg304Trp Multiple submitters hereditary neoplastic syndrome
p.Asn181Ser Multiple submitters hereditary neoplastic syndrome
p.Asp194Asn Multiple submitters hereditary neoplastic syndrome
p.Cys210Ter Multiple submitters hereditary neoplastic syndrome
p.Glu120Ter Multiple submitters Peutz-Jeghers syndrome
p.Glu57fs Multiple submitters hereditary neoplastic syndrome
p.Gly155fs Multiple submitters hereditary neoplastic syndrome
p.His306Tyr Multiple submitters Peutz-Jeghers syndrome
p.Leu67fs Multiple submitters Peutz-Jeghers syndrome
p.Leu67Pro Multiple submitters hereditary neoplastic syndrome
p.Lys48fs Multiple submitters Peutz-Jeghers syndrome
p.Met11fs Multiple submitters Peutz-Jeghers syndrome
p.Thr328fs Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 66

c.290+2_290+4del Multiple submitters hereditary neoplastic syndrome
p.Asn181Glu Multiple submitters Peutz-Jeghers syndrome
p.Asp194Glu Multiple submitters hereditary neoplastic syndrome
p.Cys132Arg Multiple submitters Peutz-Jeghers syndrome
p.Gly163Arg Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1
p.Met136Arg Multiple submitters hereditary neoplastic syndrome
p.Ser240Trp Multiple submitters exocrine pancreatic carcinoma
p.Trp308Leu Multiple submitters Peutz-Jeghers syndrome
c.1109-1G>A Single submitter Peutz-Jeghers syndrome
c.290+1_290+2del Single submitter Peutz-Jeghers syndrome
c.290+1_290+7del Single submitter Peutz-Jeghers syndrome
c.291-15_292del Single submitter Peutz-Jeghers syndrome
c.292_464+1del Single submitter Peutz-Jeghers syndrome
c.464+1G>C Single submitter hereditary neoplastic syndrome
c.465-1G>T Single submitter hereditary neoplastic syndrome
c.465-21_465del Single submitter hereditary neoplastic syndrome
c.465-2A>C Single submitter hereditary neoplastic syndrome
c.589_597+6del Single submitter Peutz-Jeghers syndrome
c.597+16_597+33delinsTG Single submitter familial ovarian cancer
c.597+2T>C Single submitter hereditary neoplastic syndrome
c.598-1G>T Single submitter hereditary neoplastic syndrome
c.598-32_628del Single submitter familial ovarian cancer
c.598-7_607dup Single submitter Peutz-Jeghers syndrome
c.734_734+2dup Single submitter hereditary neoplastic syndrome
c.734+2T>C Single submitter hereditary neoplastic syndrome
c.862+2T>C Single submitter hereditary neoplastic syndrome
c.863-1G>A Single submitter Peutz-Jeghers syndrome
c.863-1G>T Single submitter Peutz-Jeghers syndrome
c.863-2A>G Single submitter hereditary neoplastic syndrome
c.920+1G>C Single submitter Peutz-Jeghers syndrome
c.920+2_920+31del Single submitter hereditary neoplastic syndrome
c.920+2T>C Single submitter Peutz-Jeghers syndrome
p.Ala406fs Single submitter melanoma, cutaneous malignant, susceptibility to, 1
p.Arg147Pro Single submitter Peutz-Jeghers syndrome
p.Arg297_Gln302del Single submitter hereditary neoplastic syndrome
p.Arg297Gly Single submitter Peutz-Jeghers syndrome
p.Asn109fs Single submitter Peutz-Jeghers syndrome
p.Asn181Asp Single submitter Peutz-Jeghers syndrome
p.Asn181Lys Single submitter Peutz-Jeghers syndrome
p.Asp176Gly Single submitter
p.Asp176His Single submitter hereditary neoplastic syndrome
p.Asp237His Single submitter hereditary neoplastic syndrome
p.Asp284fs Single submitter Peutz-Jeghers syndrome
p.Gly196Arg Single submitter hereditary neoplastic syndrome
p.His174Pro Single submitter Peutz-Jeghers syndrome
p.His306fs Single submitter
p.Ile177Asn Single submitter Peutz-Jeghers syndrome
p.Ile260fs Single submitter familial adenomatous polyposis 1
p.Leu245Phe Single submitter
p.Leu282Arg Single submitter
p.Leu286del Single submitter Periorbital hyperpigmentation
p.Lys41Glu Single submitter breast-ovarian cancer, familial, susceptibility to, 2
p.Lys41Ter Single submitter hereditary neoplastic syndrome
p.Phe231fs Single submitter
p.Pro179Gln Single submitter hereditary neoplastic syndrome
p.Pro315fs Single submitter Peutz-Jeghers syndrome
p.Ser193fs Single submitter Peutz-Jeghers syndrome
p.Thr250del Single submitter hereditary neoplastic syndrome
p.Trp239fs Single submitter Peutz-Jeghers syndrome
p.Trp308Arg Single submitter hereditary neoplastic syndrome
p.Trp308Gly Single submitter Peutz-Jeghers syndrome
p.Tyr156_Phe157del Single submitter Peutz-Jeghers syndrome
p.Val390fs Single submitter hereditary neoplastic syndrome
c.291-2_374+91del No assertion criteria generalized juvenile polyposis/juvenile polyposis coli
p.Glu223Ter No assertion criteria melanoma
p.Gly47fs No assertion criteria melanoma

Conflicting classifications of pathogenicity 303

Showing the top 300 by review status; the full set is in the sitemap.

c.1109-16_1109-15delinsTG Single submitter Peutz-Jeghers syndrome
c.1109-16G>A Single submitter hereditary neoplastic syndrome
c.1109-3C>T Single submitter hereditary neoplastic syndrome
c.1109-4C>A Single submitter hereditary neoplastic syndrome
c.1109-7C>G Single submitter Peutz-Jeghers syndrome
c.290+18G>T Single submitter hereditary neoplastic syndrome
c.291-13C>T Single submitter hereditary neoplastic syndrome
c.291-18_291-17del Single submitter hereditary neoplastic syndrome
c.374+11C>T Single submitter hereditary neoplastic syndrome
c.374+12G>A Single submitter Peutz-Jeghers syndrome
c.374+13G>A Single submitter Peutz-Jeghers syndrome
c.374+2T>C Single submitter Peutz-Jeghers syndrome ⚠
c.374+9T>A Single submitter hereditary neoplastic syndrome
c.375-10A>G Single submitter Peutz-Jeghers syndrome
c.375-11T>C Single submitter Peutz-Jeghers syndrome
c.375-13C>T Single submitter Peutz-Jeghers syndrome
c.375-5C>A Single submitter hereditary neoplastic syndrome
c.375-5C>G Single submitter Peutz-Jeghers syndrome
c.375-5C>T Single submitter hereditary neoplastic syndrome
c.375-7_375-6del Single submitter hereditary neoplastic syndrome
c.375-7G>A Single submitter familial ovarian cancer
c.375-7G>T Single submitter hereditary neoplastic syndrome
c.375-8C>T Single submitter Peutz-Jeghers syndrome
c.375-9G>T Single submitter hereditary neoplastic syndrome
c.464+14G>A Single submitter hereditary neoplastic syndrome
c.464+15C>T Single submitter hereditary neoplastic syndrome
c.464+3G>A Single submitter hereditary neoplastic syndrome
c.464+4C>T Single submitter familial ovarian cancer
c.464+5G>A Single submitter exocrine pancreatic carcinoma
c.464+8del Single submitter hereditary neoplastic syndrome
c.465-10C>G Single submitter hereditary neoplastic syndrome
c.465-11G>A Single submitter hereditary neoplastic syndrome
c.465-19G>A Single submitter hereditary neoplastic syndrome
c.465-3C>T Single submitter hereditary neoplastic syndrome
c.465-4G>A Single submitter Breast and/or ovarian cancer
c.465-4G>T Single submitter hereditary neoplastic syndrome
c.465-5C>T Single submitter Breast and/or ovarian cancer
c.465-7C>G Single submitter hereditary neoplastic syndrome
c.465-8G>A Single submitter hereditary neoplastic syndrome
c.597+10_597+11insCTAG Single submitter Peutz-Jeghers syndrome
c.597+9G>T Single submitter hereditary neoplastic syndrome
c.598-10A>G Single submitter hereditary neoplastic syndrome
c.598-11C>T Single submitter hereditary neoplastic syndrome
c.598-14C>T Single submitter hereditary neoplastic syndrome
c.734+19dup Single submitter hereditary neoplastic syndrome
c.734+20G>A Single submitter Breast and/or ovarian cancer
c.735-12C>G Single submitter Peutz-Jeghers syndrome
c.735-16_735-15del Single submitter Peutz-Jeghers syndrome
c.735-18C>T Single submitter Peutz-Jeghers syndrome
c.735-3A>G Single submitter hereditary neoplastic syndrome
c.735-5T>C Single submitter hereditary neoplastic syndrome
c.735-6_735-2del Single submitter Peutz-Jeghers syndrome ⚠
c.862+3G>A Single submitter Peutz-Jeghers syndrome
c.862+4G>A Single submitter hereditary neoplastic syndrome
c.862+9C>T Single submitter hereditary neoplastic syndrome
c.863-12G>A Single submitter hereditary neoplastic syndrome
c.863-14C>G Single submitter hereditary neoplastic syndrome
c.863-17C>T Single submitter hereditary neoplastic syndrome
c.863-3_863-2dup Single submitter Peutz-Jeghers syndrome ⚠
c.863-3C>T Single submitter hereditary neoplastic syndrome
c.863-4T>C Single submitter hereditary neoplastic syndrome
c.863-5_863-3del Single submitter Peutz-Jeghers syndrome
c.863-5C>T Single submitter Peutz-Jeghers syndrome
c.863-8C>T Single submitter hereditary neoplastic syndrome
c.920+3G>A Single submitter hereditary neoplastic syndrome
c.920+5G>A Single submitter hereditary neoplastic syndrome
c.920+6C>T Single submitter hereditary neoplastic syndrome
c.920+7G>A Single submitter hereditary neoplastic syndrome
c.921-5T>C Single submitter hereditary neoplastic syndrome
c.921-8G>A Single submitter hereditary neoplastic syndrome
c.-11del Single submitter hereditary neoplastic syndrome
c.-1C>T Single submitter Breast and/or ovarian cancer
c.-2G>T Single submitter Peutz-Jeghers syndrome
c.-461G>A Single submitter Peutz-Jeghers syndrome
c.-7del Single submitter hereditary neoplastic syndrome
c.-9G>A Single submitter hereditary neoplastic syndrome
c.*11C>T Single submitter hereditary neoplastic syndrome
c.*16+10G>A Single submitter hereditary neoplastic syndrome
c.*16+7_*16+36del Single submitter hereditary neoplastic syndrome
c.*1G>A Single submitter hereditary neoplastic syndrome
c.*332C>T Single submitter hereditary neoplastic syndrome
c.*413C>A Single submitter hereditary neoplastic syndrome
c.*4del Single submitter hereditary neoplastic syndrome
c.*6G>A Single submitter hereditary neoplastic syndrome
c.*7C>T Single submitter Peutz-Jeghers syndrome
c.*8C>A Single submitter Peutz-Jeghers syndrome
c.*8C>T Single submitter Breast and/or ovarian cancer
c.*9_*10delinsTA Single submitter hereditary neoplastic syndrome
c.*9G>A Single submitter hereditary neoplastic syndrome
p.300IRQ[3] Single submitter hereditary neoplastic syndrome
p.Ala153Asp Single submitter Peutz-Jeghers syndrome ⚠
p.Ala205Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala205Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala206= Single submitter hereditary neoplastic syndrome
p.Ala206Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala241Ser Single submitter Peutz-Jeghers syndrome ⚠
p.Ala241Thr Single submitter Breast and/or ovarian cancer
p.Ala273Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala273Val Single submitter melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Ala316Gly Single submitter Peutz-Jeghers syndrome ⚠
p.Ala316Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala318Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala377Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala377Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala377Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala377Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala389Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala397Leu Single submitter hereditary neoplastic syndrome
p.Ala397Ser Single submitter Breast and/or ovarian cancer ⚠
p.Ala397Val Single submitter Breast and/or ovarian cancer ⚠
p.Ala398Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala406Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala406Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala406Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala410Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala410Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala410Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala414Thr Single submitter Peutz-Jeghers syndrome ⚠
p.Ala417= Single submitter hereditary neoplastic syndrome
p.Ala417Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala417Ser Single submitter Breast and/or ovarian cancer ⚠
p.Ala420Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala420Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala420Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala429Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala429Val Single submitter hereditary neoplastic syndrome ⚠
p.Arg104Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg104Trp Single submitter familial pancreatic carcinoma ⚠
p.Arg106Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg106Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg147Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg147His Single submitter Breast and/or ovarian cancer ⚠
p.Arg211Gln Single submitter exocrine pancreatic carcinoma ⚠
p.Arg211Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg297Lys Single submitter Peutz-Jeghers syndrome ⚠
p.Arg301Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg301Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg304Gln Single submitter STK11-related disorder ⚠
p.Arg383Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg383His Single submitter hereditary neoplastic syndrome ⚠
p.Arg383Pro Single submitter hereditary neoplastic syndrome ⚠
p.Arg384Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg384Pro Single submitter Peutz-Jeghers syndrome ⚠
p.Arg384Trp Single submitter STK11-related disorder ⚠
p.Arg39Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg405Gly Single submitter Peutz-Jeghers syndrome ⚠
p.Arg409Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg409Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg409Leu Single submitter Peutz-Jeghers syndrome ⚠
p.Arg409Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg415Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg415Gly Single submitter exocrine pancreatic carcinoma ⚠
p.Arg415His Single submitter hereditary neoplastic syndrome ⚠
p.Arg425His Single submitter hereditary neoplastic syndrome ⚠
p.Arg426Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg426Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg42Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg42Leu Single submitter hereditary neoplastic syndrome ⚠
p.Asn119= Single submitter melanoma, cutaneous malignant, susceptibility to, 1
p.Asn119Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn119Ser Single submitter Peutz-Jeghers syndrome ⚠
p.Asn181Thr Single submitter Peutz-Jeghers syndrome ⚠
p.Asn226Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn247del Single submitter Peutz-Jeghers syndrome
p.Asn380Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn380Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn412= Single submitter Peutz-Jeghers syndrome
p.Asn412Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp115= Single submitter hereditary neoplastic syndrome
p.Asp194His Single submitter Peutz-Jeghers syndrome ⚠
p.Asp23= Single submitter Peutz-Jeghers syndrome
p.Asp237Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp284= Single submitter hereditary neoplastic syndrome
p.Asp5= Single submitter hereditary neoplastic syndrome
p.Asp53_Gly56del Single submitter hereditary neoplastic syndrome
p.Asp5Asn Single submitter hereditary neoplastic syndrome ⚠
p.Cys132= Single submitter hereditary neoplastic syndrome
p.Cys132Trp Single submitter Peutz-Jeghers syndrome ⚠
p.Cys418Ser Single submitter hereditary neoplastic syndrome ⚠
p.Cys418Trp Single submitter Peutz-Jeghers syndrome ⚠
p.Cys430= Single submitter hereditary neoplastic syndrome
p.Gln100Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln170= Single submitter hereditary neoplastic syndrome
p.Gln305Pro Single submitter Peutz-Jeghers syndrome ⚠
p.Gln382Arg Single submitter Peutz-Jeghers syndrome ⚠
p.Gln399Lys Single submitter testicular cancer ⚠
p.Gln432= Single submitter Breast and/or ovarian cancer
p.Gln8His Single submitter hereditary neoplastic syndrome ⚠
p.Glu121= Single submitter hereditary neoplastic syndrome
p.Glu145Gly Single submitter familial pancreatic carcinoma ⚠
p.Glu293Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu2Ala Single submitter hereditary neoplastic syndrome ⚠
p.Glu376Ala Single submitter Breast and/or ovarian cancer ⚠
p.Gly15= Single submitter hereditary neoplastic syndrome
p.Gly155= Single submitter Peutz-Jeghers syndrome
p.Gly155Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly155Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly15Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly163= Single submitter hereditary neoplastic syndrome
p.Gly187Ser Single submitter Hereditary cancer ⚠
p.Gly188= Single submitter hereditary neoplastic syndrome
p.Gly242Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly251Val Single submitter Peutz-Jeghers syndrome ⚠
p.Gly276= Single submitter hereditary neoplastic syndrome
p.Gly276Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly276Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly288= Single submitter hereditary neoplastic syndrome
p.Gly381Ala Single submitter hereditary neoplastic syndrome ⚠
p.Gly385Ser Single submitter Peutz-Jeghers syndrome ⚠
p.Gly394= Single submitter hereditary neoplastic syndrome
p.Gly394Ser Single submitter melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Gly408Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly52del Single submitter hereditary neoplastic syndrome
p.His154= Single submitter hereditary neoplastic syndrome
p.His154Asp Single submitter hereditary neoplastic syndrome ⚠
p.His379Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ile161Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ile99Met Single submitter hereditary neoplastic syndrome
p.Leu101Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu102= Single submitter hereditary neoplastic syndrome
p.Leu140del Single submitter Marfanoid habitus and intellectual disability
p.Leu167Pro Single submitter Peutz-Jeghers syndrome ⚠
p.Leu184Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu245= Single submitter hereditary neoplastic syndrome
p.Leu282= Single submitter hereditary neoplastic syndrome
p.Leu285Arg Single submitter hereditary neoplastic syndrome ⚠
p.Leu285Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu290Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu50= Single submitter Peutz-Jeghers syndrome
p.Leu9Val Single submitter hereditary neoplastic syndrome ⚠
p.Lys287Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys403Arg Single submitter STK11-related disorder ⚠
p.Lys416Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys431= Single submitter Peutz-Jeghers syndrome
p.Lys83Arg Single submitter melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Lys84= Single submitter hereditary neoplastic syndrome
p.Lys84del Single submitter hereditary neoplastic syndrome
p.Met136Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met392Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met392Val Single submitter hereditary neoplastic syndrome ⚠
p.Met51_Leu54del Single submitter Peutz-Jeghers syndrome
p.Met51Leu Single submitter hereditary neoplastic syndrome
p.Phe148= Single submitter hereditary neoplastic syndrome
p.Phe148Ser Single submitter hereditary neoplastic syndrome ⚠
p.Phe204= Single submitter Peutz-Jeghers syndrome
p.Phe219= Single submitter hereditary neoplastic syndrome
p.Phe231= Single submitter hereditary neoplastic syndrome
p.Phe298Leu Single submitter familial pancreatic carcinoma ⚠
p.Pro149= Single submitter hereditary neoplastic syndrome
p.Pro203Leu Single submitter familial pancreatic carcinoma ⚠
p.Pro221Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro280= Single submitter hereditary neoplastic syndrome
p.Pro281Arg Single submitter hereditary neoplastic syndrome ⚠
p.Pro281Gln Single submitter hereditary neoplastic syndrome ⚠
p.Pro281Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro281Ser Single submitter Peutz-Jeghers syndrome ⚠
p.Pro281Thr Single submitter hereditary neoplastic syndrome ⚠
p.Pro314= Single submitter hereditary neoplastic syndrome
p.Pro314Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro315Leu Single submitter Peutz-Jeghers syndrome ⚠
p.Pro319= Single submitter Peutz-Jeghers syndrome
p.Pro319Gln Single submitter Peutz-Jeghers syndrome ⚠
p.Pro319Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro324Ala Single submitter hereditary neoplastic syndrome ⚠
p.Pro326Thr Single submitter hereditary neoplastic syndrome ⚠
p.Pro373Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro373Ser Single submitter Peutz-Jeghers syndrome ⚠
p.Pro411Ala Single submitter hereditary neoplastic syndrome ⚠
p.Pro6Arg Single submitter hereditary neoplastic syndrome ⚠
p.Pro6Ser Single submitter Peutz-Jeghers syndrome ⚠
p.Ser193Ala Single submitter hereditary neoplastic syndrome ⚠
p.Ser216Phe Single submitter Peutz-Jeghers syndrome ⚠
p.Ser240= Single submitter hereditary neoplastic syndrome
p.Ser271Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser307Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser378Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser401Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ser404Phe Single submitter Inherited polyposis and early onset colorectal cancer - germline testing ⚠
p.Ser404Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ser404Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ser404Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Ser419Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ser421= Single submitter Peutz-Jeghers syndrome
p.Ser421Leu Single submitter hereditary neoplastic syndrome
p.Ser422= Single submitter hereditary neoplastic syndrome
p.Ser422del Single submitter hereditary neoplastic syndrome
p.Ser428= Single submitter Breast and/or ovarian cancer
p.Ser428Leu Single submitter Breast and/or ovarian cancer ⚠
p.Ser428Thr Single submitter Peutz-Jeghers syndrome ⚠
p.Ser428Trp Single submitter familial pancreatic carcinoma ⚠
p.Ter434= Single submitter hereditary neoplastic syndrome ⚠
p.Thr189Ile Single submitter exocrine pancreatic carcinoma ⚠
p.Thr24Met Single submitter hereditary neoplastic syndrome
p.Thr32Ala Single submitter Peutz-Jeghers syndrome ⚠
p.Thr402Ser Single submitter hereditary neoplastic syndrome ⚠
p.Trp239Gly Single submitter hereditary neoplastic syndrome ⚠
p.Val133= Single submitter hereditary neoplastic syndrome
p.Val133Met Single submitter hereditary neoplastic syndrome ⚠
p.Val143Met Single submitter hereditary neoplastic syndrome ⚠
p.Val150Ala Single submitter STK11-related disorder ⚠

Benign 78

c.1108+199C>T Multiple submitters
c.290+36G>T Multiple submitters hereditary neoplastic syndrome
c.290+78C>T Multiple submitters
c.291-32C>T Multiple submitters
c.374+24G>T Multiple submitters hereditary neoplastic syndrome
c.375-49G>A Multiple submitters hereditary neoplastic syndrome
c.375-99G>T Multiple submitters
c.465-195C>T Multiple submitters
c.465-51T>C Multiple submitters hereditary neoplastic syndrome
c.734+41T>C Multiple submitters Peutz-Jeghers syndrome
c.735-51C>T Multiple submitters hereditary neoplastic syndrome
c.862+145C>T Multiple submitters
c.862+206C>T Multiple submitters
c.920+7G>C Multiple submitters Peutz-Jeghers syndrome
c.-577C>T Multiple submitters Peutz-Jeghers syndrome
c.*16+110C>T Multiple submitters
c.*16+239G>T Multiple submitters
c.*17-87C>T Multiple submitters
c.*17-97A>C Multiple submitters
c.*365C>G Multiple submitters Peutz-Jeghers syndrome
c.*494T>A Multiple submitters Peutz-Jeghers syndrome
c.*616T>C Multiple submitters Peutz-Jeghers syndrome
c.*685C>A Multiple submitters Peutz-Jeghers syndrome
c.1109-955A>G Single submitter squamous cell carcinoma
c.290+1197C>T Single submitter hereditary neoplastic syndrome
c.374+24G>A Single submitter hereditary neoplastic syndrome
c.374+270G>T Single submitter
c.375-194_375-193del Single submitter
c.375-194G>A Single submitter
c.464+17G>A Single submitter hereditary neoplastic syndrome
c.464+20dup Single submitter Peutz-Jeghers syndrome
c.597+20_597+21dup Single submitter Peutz-Jeghers syndrome
c.597+35_598-14dup Single submitter Peutz-Jeghers syndrome
c.734+19del Single submitter Peutz-Jeghers syndrome
c.735-23_735-20dup Single submitter Peutz-Jeghers syndrome
c.863-295G>A Single submitter
c.920+263A>G Single submitter
c.921-58A>G Single submitter
c.-107dup Single submitter Peutz-Jeghers syndrome
c.-20dup Single submitter Peutz-Jeghers syndrome
c.-274C>T Single submitter Peutz-Jeghers syndrome
c.-48C>T Single submitter
c.-49A>C Single submitter
c.-562G>C Single submitter Peutz-Jeghers syndrome
c.-580G>A Single submitter Peutz-Jeghers syndrome
c.*10C>T Single submitter Peutz-Jeghers syndrome
c.*16+217A>C Single submitter
c.*16+6del Single submitter
c.*16+6G>A Single submitter
c.*16+9C>T Single submitter
c.*17-11C>A Single submitter
c.*17-6C>G Single submitter
c.*17-8C>T Single submitter
c.*22dup Single submitter hereditary neoplastic syndrome
c.*29A>G Single submitter
c.*34C>A Single submitter
c.*34C>T Single submitter
c.*3C>G Single submitter Peutz-Jeghers syndrome
c.*4_*7del Single submitter Peutz-Jeghers syndrome
c.*4T>G Single submitter Peutz-Jeghers syndrome
c.*6G>C Single submitter Peutz-Jeghers syndrome
c.*6G>T Single submitter Peutz-Jeghers syndrome
c.*9G>C Single submitter Peutz-Jeghers syndrome
p.Arg87= Single submitter Peutz-Jeghers syndrome
p.Asn94= Single submitter Peutz-Jeghers syndrome
p.Gln137= Single submitter Peutz-Jeghers syndrome
p.Gln220= Single submitter Peutz-Jeghers syndrome
p.Gln382= Single submitter Peutz-Jeghers syndrome
p.Gln399= Single submitter Peutz-Jeghers syndrome
p.Glu256= Single submitter Peutz-Jeghers syndrome
p.Gly135= Single submitter Peutz-Jeghers syndrome
p.Gly196= Single submitter Peutz-Jeghers syndrome
p.Leu45= Single submitter Peutz-Jeghers syndrome
p.Lys191= Single submitter Peutz-Jeghers syndrome
p.Lys44= Single submitter Peutz-Jeghers syndrome
p.Ser271_Tyr272= Single submitter Peutz-Jeghers syndrome
p.Ser59= Single submitter Peutz-Jeghers syndrome
p.Val197= Single submitter Peutz-Jeghers syndrome

Benign/Likely benign 245

c.1109-13G>A Multiple submitters hereditary neoplastic syndrome
c.1109-14C>T Multiple submitters hereditary neoplastic syndrome
c.1109-5C>T Multiple submitters hereditary neoplastic syndrome
c.464+10C>T Multiple submitters Peutz-Jeghers syndrome
c.464+20del Multiple submitters hereditary neoplastic syndrome
c.464+32CGGGGGC[3] Multiple submitters
c.464+44dup Multiple submitters squamous cell lung carcinoma
c.464+8C>T Multiple submitters familial ovarian cancer
c.464+9G>A Multiple submitters Breast and/or ovarian cancer
c.465-17G>A Multiple submitters hereditary neoplastic syndrome
c.465-17GT[2] Multiple submitters hereditary neoplastic syndrome
c.465-18G>T Multiple submitters hereditary neoplastic syndrome
c.597+14del Multiple submitters Breast and/or ovarian cancer
c.597+21del Multiple submitters hereditary neoplastic syndrome
c.597+21dup Multiple submitters Breast and/or ovarian cancer
c.597+8C>T Multiple submitters familial ovarian cancer
c.598-7G>A Multiple submitters Breast and/or ovarian cancer
c.598-8C>T Multiple submitters exocrine pancreatic carcinoma
c.734+17C>G Multiple submitters Peutz-Jeghers syndrome
c.735-10C>T Multiple submitters hereditary neoplastic syndrome
c.735-9G>A Multiple submitters hereditary neoplastic syndrome
c.863-16G>A Multiple submitters Peutz-Jeghers syndrome
c.863-6C>T Multiple submitters Peutz-Jeghers syndrome
c.920+12C>T Multiple submitters hereditary neoplastic syndrome
c.921-10G>A Multiple submitters Breast and/or ovarian cancer
c.921-9C>T Multiple submitters hereditary neoplastic syndrome
c.-127T>C Multiple submitters Peutz-Jeghers syndrome
c.-137C>T Multiple submitters Peutz-Jeghers syndrome
c.-311C>T Multiple submitters Peutz-Jeghers syndrome
c.-430C>T Multiple submitters Peutz-Jeghers syndrome
c.*16+12C>T Multiple submitters
c.*317C>G Multiple submitters Peutz-Jeghers syndrome
c.*460G>A Multiple submitters hereditary neoplastic syndrome
p.Ala153= Multiple submitters Peutz-Jeghers syndrome
p.Ala198= Multiple submitters hereditary neoplastic syndrome
p.Ala205= Multiple submitters hereditary neoplastic syndrome
p.Ala218= Multiple submitters hereditary neoplastic syndrome
p.Ala241= Multiple submitters Breast and/or ovarian cancer
p.Ala318= Multiple submitters hereditary neoplastic syndrome
p.Ala397= Multiple submitters hereditary neoplastic syndrome
p.Ala398= Multiple submitters Peutz-Jeghers syndrome
p.Ala406= Multiple submitters hereditary neoplastic syndrome
p.Ala410= Multiple submitters Peutz-Jeghers syndrome
p.Ala414= Multiple submitters Peutz-Jeghers syndrome
p.Ala420= Multiple submitters hereditary neoplastic syndrome
p.Ala43= Multiple submitters hereditary neoplastic syndrome
p.Ala76= Multiple submitters hereditary neoplastic syndrome
p.Arg103= Multiple submitters hereditary neoplastic syndrome
p.Arg104= Multiple submitters hereditary neoplastic syndrome
p.Arg106= Multiple submitters Peutz-Jeghers syndrome
p.Arg147= Multiple submitters hereditary neoplastic syndrome
p.Arg28= Multiple submitters hereditary neoplastic syndrome
p.Arg297= Multiple submitters hereditary neoplastic syndrome
p.Arg301= Multiple submitters hereditary neoplastic syndrome
p.Arg310= Multiple submitters Peutz-Jeghers syndrome
p.Arg383= Multiple submitters hereditary neoplastic syndrome
p.Arg384= Multiple submitters hereditary neoplastic syndrome
p.Arg39= Multiple submitters hereditary neoplastic syndrome
p.Arg405= Multiple submitters hereditary neoplastic syndrome
p.Arg415= Multiple submitters hereditary neoplastic syndrome
p.Arg425= Multiple submitters Peutz-Jeghers syndrome
p.Arg426= Multiple submitters hereditary neoplastic syndrome
p.Arg75= Multiple submitters Peutz-Jeghers syndrome
p.Arg86= Multiple submitters Peutz-Jeghers syndrome
p.Asn109= Multiple submitters hereditary neoplastic syndrome
p.Asn226= Multiple submitters hereditary neoplastic syndrome
p.Asn247= Multiple submitters hereditary neoplastic syndrome
p.Asn259= Multiple submitters Breast and/or ovarian cancer
p.Asn266= Multiple submitters hereditary neoplastic syndrome
p.Asn380= Multiple submitters hereditary neoplastic syndrome
p.Asn393= Multiple submitters hereditary neoplastic syndrome
p.Asn90= Multiple submitters hereditary neoplastic syndrome
p.Asp162= Multiple submitters hereditary neoplastic syndrome
p.Asp176= Multiple submitters hereditary neoplastic syndrome
p.Asp194= Multiple submitters hereditary neoplastic syndrome
p.Asp207= Multiple submitters hereditary neoplastic syndrome
p.Asp229= Multiple submitters Peutz-Jeghers syndrome
p.Asp30= Multiple submitters hereditary neoplastic syndrome
p.Asp327= Multiple submitters hereditary neoplastic syndrome
p.Asp53= Multiple submitters Peutz-Jeghers syndrome
p.Asp68= Multiple submitters hereditary neoplastic syndrome
p.Cys134= Multiple submitters Peutz-Jeghers syndrome
p.Cys151= Multiple submitters hereditary neoplastic syndrome
p.Cys210= Multiple submitters hereditary neoplastic syndrome
p.Cys391= Multiple submitters hereditary neoplastic syndrome
p.Cys418= Multiple submitters hereditary neoplastic syndrome
p.Cys73= Multiple submitters hereditary neoplastic syndrome
p.Gln100= Multiple submitters hereditary neoplastic syndrome
p.Gln123= Multiple submitters Breast and/or ovarian cancer
p.Gln152= Multiple submitters hereditary neoplastic syndrome
p.Gln305= Multiple submitters hereditary neoplastic syndrome
p.Gln371= Multiple submitters hereditary neoplastic syndrome
p.Gln7= Multiple submitters hereditary neoplastic syndrome
p.Gln8= Multiple submitters Peutz-Jeghers syndrome
p.Glu120= Multiple submitters hereditary neoplastic syndrome
p.Glu138= Multiple submitters hereditary neoplastic syndrome
p.Glu14= Multiple submitters familial pancreatic carcinoma
p.Glu145= Multiple submitters Peutz-Jeghers syndrome
p.Glu16= Multiple submitters hereditary neoplastic syndrome
p.Glu165= Multiple submitters hereditary neoplastic syndrome
p.Glu2= Multiple submitters hereditary neoplastic syndrome
p.Glu265= Multiple submitters Breast and/or ovarian cancer
p.Glu293= Multiple submitters Peutz-Jeghers syndrome
p.Glu317= Multiple submitters hereditary neoplastic syndrome
p.Glu33= Multiple submitters hereditary neoplastic syndrome
p.Glu374= Multiple submitters Peutz-Jeghers syndrome
p.Glu376= Multiple submitters hereditary neoplastic syndrome
p.Glu57= Multiple submitters hereditary neoplastic syndrome
p.Glu92= Multiple submitters hereditary neoplastic syndrome
p.Gly10= Multiple submitters hereditary neoplastic syndrome
p.Gly171= Multiple submitters hereditary neoplastic syndrome
p.Gly215= Multiple submitters hereditary neoplastic syndrome
p.Gly227= Multiple submitters hereditary neoplastic syndrome
p.Gly233= Multiple submitters Peutz-Jeghers syndrome
p.Gly242= Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1
p.Gly257= Multiple submitters hereditary neoplastic syndrome
p.Gly270= Multiple submitters hereditary neoplastic syndrome
p.Gly279= Multiple submitters hereditary neoplastic syndrome
p.Gly385= Multiple submitters Peutz-Jeghers syndrome
p.Gly408= Multiple submitters Peutz-Jeghers syndrome
p.Gly52= Multiple submitters hereditary neoplastic syndrome
p.Gly61= Multiple submitters Peutz-Jeghers syndrome
p.Gly91= Multiple submitters hereditary neoplastic syndrome
p.His107= Multiple submitters hereditary neoplastic syndrome
p.His168= Multiple submitters Peutz-Jeghers syndrome
p.His379= Multiple submitters hereditary neoplastic syndrome
p.Ile161= Multiple submitters hereditary neoplastic syndrome
p.Ile172= Multiple submitters Peutz-Jeghers syndrome
p.Ile177= Multiple submitters Peutz-Jeghers syndrome
p.Ile192= Multiple submitters Peutz-Jeghers syndrome
p.Ile224= Multiple submitters Peutz-Jeghers syndrome
p.Ile260= Multiple submitters hereditary neoplastic syndrome
p.Ile267= Multiple submitters hereditary neoplastic syndrome
p.Ile29= Multiple submitters Peutz-Jeghers syndrome
p.Ile300= Multiple submitters hereditary neoplastic syndrome
p.Ile35= Multiple submitters Peutz-Jeghers syndrome
p.Ile424= Multiple submitters hereditary neoplastic syndrome
p.Ile46= Multiple submitters hereditary neoplastic syndrome
p.Ile79= Multiple submitters Peutz-Jeghers syndrome
p.Ile88= Multiple submitters hereditary neoplastic syndrome
p.Leu101= Multiple submitters Peutz-Jeghers syndrome
p.Leu105= Multiple submitters Peutz-Jeghers syndrome
p.Leu117= Multiple submitters hereditary neoplastic syndrome
p.Leu140= Multiple submitters Peutz-Jeghers syndrome
p.Leu164= Multiple submitters Peutz-Jeghers syndrome
p.Leu17= Multiple submitters Peutz-Jeghers syndrome
p.Leu183= Multiple submitters Peutz-Jeghers syndrome
p.Leu184= Multiple submitters hereditary neoplastic syndrome
p.Leu190= Multiple submitters hereditary neoplastic syndrome
p.Leu195= Multiple submitters hereditary neoplastic syndrome
p.Leu201= Multiple submitters Peutz-Jeghers syndrome
p.Leu228= Multiple submitters hereditary neoplastic syndrome
p.Leu252= Multiple submitters hereditary neoplastic syndrome
p.Leu263= Multiple submitters Breast and/or ovarian cancer
p.Leu285= Multiple submitters hereditary neoplastic syndrome
p.Leu286= Multiple submitters hereditary neoplastic syndrome
p.Leu290= Multiple submitters hereditary neoplastic syndrome
p.Leu400= Multiple submitters hereditary neoplastic syndrome
p.Leu72= Multiple submitters hereditary neoplastic syndrome
p.Leu80= Multiple submitters Peutz-Jeghers syndrome
p.Leu85= Multiple submitters Peutz-Jeghers syndrome
p.Lys122= Multiple submitters Breast and/or ovarian cancer
p.Lys175= Multiple submitters Peutz-Jeghers syndrome
p.Lys178= Multiple submitters hereditary neoplastic syndrome
p.Lys269= Multiple submitters Peutz-Jeghers syndrome
p.Lys311= Multiple submitters Peutz-Jeghers syndrome
p.Lys312= Multiple submitters hereditary neoplastic syndrome
p.Lys388= Multiple submitters hereditary neoplastic syndrome
p.Lys416= Multiple submitters hereditary neoplastic syndrome
p.Lys48= Multiple submitters hereditary neoplastic syndrome
p.Lys62= Multiple submitters hereditary neoplastic syndrome
p.Lys64= Multiple submitters hereditary neoplastic syndrome
p.Lys78= Multiple submitters hereditary neoplastic syndrome
p.Lys81= Multiple submitters hereditary neoplastic syndrome
p.Lys82= Multiple submitters hereditary neoplastic syndrome
p.Lys83= Multiple submitters Peutz-Jeghers syndrome
p.Lys96= Multiple submitters hereditary neoplastic syndrome
p.Met392Ile Multiple submitters Peutz-Jeghers syndrome
p.Phe12= Multiple submitters Peutz-Jeghers syndrome
p.Phe157= Multiple submitters hereditary neoplastic syndrome
p.Phe234= Multiple submitters Peutz-Jeghers syndrome
p.Phe25= Multiple submitters hereditary neoplastic syndrome
p.Phe255= Multiple submitters hereditary neoplastic syndrome
p.Phe264= Multiple submitters Peutz-Jeghers syndrome
p.Pro144= Multiple submitters hereditary neoplastic syndrome
p.Pro179= Multiple submitters hereditary neoplastic syndrome
p.Pro203= Multiple submitters hereditary neoplastic syndrome
p.Pro221= Multiple submitters hereditary neoplastic syndrome
p.Pro222= Multiple submitters hereditary neoplastic syndrome
p.Pro254= Multiple submitters hereditary neoplastic syndrome
p.Pro275= Multiple submitters hereditary neoplastic syndrome
p.Pro281= Multiple submitters hereditary neoplastic syndrome
p.Pro294= Multiple submitters hereditary neoplastic syndrome
p.Pro315= Multiple submitters Breast and/or ovarian cancer
p.Pro321= Multiple submitters hereditary neoplastic syndrome
p.Pro324= Multiple submitters Peutz-Jeghers syndrome
p.Pro326= Multiple submitters hereditary neoplastic syndrome
p.Pro373= Multiple submitters hereditary neoplastic syndrome
p.Pro38= Multiple submitters hereditary neoplastic syndrome
p.Pro387= Multiple submitters hereditary neoplastic syndrome
p.Pro413= Multiple submitters hereditary neoplastic syndrome
p.Ser142= Multiple submitters hereditary neoplastic syndrome
p.Ser19= Multiple submitters Peutz-Jeghers syndrome
p.Ser213= Multiple submitters Peutz-Jeghers syndrome
p.Ser216= Multiple submitters hereditary neoplastic syndrome
p.Ser232= Multiple submitters hereditary neoplastic syndrome
p.Ser283= Multiple submitters hereditary neoplastic syndrome
p.Ser299= Multiple submitters hereditary neoplastic syndrome
p.Ser31= Multiple submitters hereditary neoplastic syndrome
p.Ser378= Multiple submitters Peutz-Jeghers syndrome
p.Ser401= Multiple submitters hereditary neoplastic syndrome
p.Ser404= Multiple submitters hereditary neoplastic syndrome
p.Ser419= Multiple submitters hereditary neoplastic syndrome
p.Ser69= Multiple submitters hereditary neoplastic syndrome
p.Thr185= Multiple submitters hereditary neoplastic syndrome
p.Thr186= Multiple submitters hereditary neoplastic syndrome
p.Thr189= Multiple submitters hereditary neoplastic syndrome
p.Thr230= Multiple submitters hereditary neoplastic syndrome
p.Thr24= Multiple submitters Peutz-Jeghers syndrome
p.Thr244= Multiple submitters hereditary neoplastic syndrome
p.Thr32= Multiple submitters hereditary neoplastic syndrome
p.Thr402= Multiple submitters hereditary neoplastic syndrome
p.Tyr118= Multiple submitters Peutz-Jeghers syndrome
p.Tyr131= Multiple submitters hereditary neoplastic syndrome
p.Tyr156= Multiple submitters hereditary neoplastic syndrome
p.Tyr166= Multiple submitters hereditary neoplastic syndrome
p.Tyr246= Multiple submitters hereditary neoplastic syndrome
p.Tyr253= Multiple submitters hereditary neoplastic syndrome
p.Tyr261= Multiple submitters hereditary neoplastic syndrome
p.Tyr272= Multiple submitters hereditary neoplastic syndrome
p.Tyr292= Multiple submitters hereditary neoplastic syndrome
p.Tyr36= Multiple submitters hereditary neoplastic syndrome
p.Tyr49= Multiple submitters hereditary neoplastic syndrome
p.Tyr60= Multiple submitters hereditary neoplastic syndrome
p.Val110= Multiple submitters hereditary neoplastic syndrome
p.Val114= Multiple submitters Peutz-Jeghers syndrome
p.Val116= Multiple submitters Peutz-Jeghers syndrome
p.Val173= Multiple submitters hereditary neoplastic syndrome
p.Val243= Multiple submitters Peutz-Jeghers syndrome
p.Val3= Multiple submitters hereditary neoplastic syndrome
p.Val34= Multiple submitters hereditary neoplastic syndrome
p.Val390= Multiple submitters hereditary neoplastic syndrome
p.Val4= Multiple submitters hereditary neoplastic syndrome
p.Val77= Multiple submitters hereditary neoplastic syndrome
p.Val95= Multiple submitters hereditary neoplastic syndrome

Likely benign 520

Showing the top 300 by review status; the full set is in the sitemap.

c.1109-11C>T Multiple submitters Peutz-Jeghers syndrome
c.1109-12T>C Multiple submitters hereditary neoplastic syndrome
c.1109-13G>T Multiple submitters Peutz-Jeghers syndrome
c.1109-14_1109-11dup Multiple submitters Peutz-Jeghers syndrome
c.1109-15C>A Multiple submitters hereditary neoplastic syndrome
c.1109-15C>T Multiple submitters Peutz-Jeghers syndrome
c.1109-16dup Multiple submitters Peutz-Jeghers syndrome
c.1109-17T>C Multiple submitters Peutz-Jeghers syndrome
c.1109-19C>T Multiple submitters Peutz-Jeghers syndrome
c.1109-20A>T Multiple submitters Peutz-Jeghers syndrome
c.1109-4C>T Multiple submitters hereditary neoplastic syndrome
c.1109-8C>T Multiple submitters hereditary neoplastic syndrome
c.1109-9C>G Multiple submitters Peutz-Jeghers syndrome
c.1109-9C>T Multiple submitters Peutz-Jeghers syndrome
c.290+10G>C Multiple submitters familial ovarian cancer
c.290+11C>T Multiple submitters Peutz-Jeghers syndrome
c.290+13T>G Multiple submitters hereditary neoplastic syndrome
c.290+15C>G Multiple submitters hereditary neoplastic syndrome
c.290+15C>T Multiple submitters hereditary neoplastic syndrome
c.290+17G>A Multiple submitters hereditary neoplastic syndrome
c.290+18G>A Multiple submitters hereditary neoplastic syndrome
c.290+21_290+26dup Multiple submitters hereditary neoplastic syndrome
c.290+7A>G Multiple submitters hereditary neoplastic syndrome
c.290+8T>C Multiple submitters hereditary neoplastic syndrome
c.291-11C>T Multiple submitters Peutz-Jeghers syndrome
c.291-14C>T Multiple submitters hereditary neoplastic syndrome
c.291-15T>C Multiple submitters Peutz-Jeghers syndrome
c.291-17del Multiple submitters hereditary neoplastic syndrome
c.291-17T>C Multiple submitters Peutz-Jeghers syndrome
c.291-18C>T Multiple submitters Peutz-Jeghers syndrome
c.291-20C>G Multiple submitters Peutz-Jeghers syndrome
c.291-20C>T Multiple submitters Peutz-Jeghers syndrome
c.291-4C>T Multiple submitters hereditary neoplastic syndrome
c.291-5C>T Multiple submitters Peutz-Jeghers syndrome
c.291-8T>C Multiple submitters Peutz-Jeghers syndrome
c.291-9C>G Multiple submitters hereditary neoplastic syndrome
c.291-9C>T Multiple submitters Peutz-Jeghers syndrome
c.374+13G>C Multiple submitters Peutz-Jeghers syndrome
c.374+16T>C Multiple submitters hereditary neoplastic syndrome
c.375-4C>G Multiple submitters hereditary neoplastic syndrome
c.464+11G>A Multiple submitters hereditary neoplastic syndrome
c.464+12G>C Multiple submitters hereditary neoplastic syndrome
c.464+13G>A Multiple submitters hereditary neoplastic syndrome
c.464+16A>T Multiple submitters Peutz-Jeghers syndrome
c.464+20G>T Multiple submitters hereditary neoplastic syndrome
c.464+7G>A Multiple submitters hereditary neoplastic syndrome
c.464+9G>C Multiple submitters Peutz-Jeghers syndrome
c.465-13G>A Multiple submitters Peutz-Jeghers syndrome
c.465-15G>A Multiple submitters Peutz-Jeghers syndrome
c.465-15G>T Multiple submitters familial ovarian cancer
c.465-16T>C Multiple submitters Peutz-Jeghers syndrome
c.465-19G>C Multiple submitters Peutz-Jeghers syndrome
c.465-20C>T Multiple submitters hereditary neoplastic syndrome
c.465-4G>C Multiple submitters hereditary neoplastic syndrome
c.465-5C>G Multiple submitters Peutz-Jeghers syndrome
c.465-7C>T Multiple submitters hereditary neoplastic syndrome
c.465-9T>C Multiple submitters hereditary neoplastic syndrome
c.597+11G>T Multiple submitters hereditary neoplastic syndrome
c.597+14A>G Multiple submitters hereditary neoplastic syndrome
c.597+8C>A Multiple submitters Peutz-Jeghers syndrome
c.597+9G>A Multiple submitters Peutz-Jeghers syndrome
c.598-12G>A Multiple submitters hereditary neoplastic syndrome
c.598-16C>T Multiple submitters Peutz-Jeghers syndrome
c.598-17G>A Multiple submitters hereditary neoplastic syndrome
c.598-20G>A Multiple submitters hereditary neoplastic syndrome
c.598-36C>T Multiple submitters
c.598-4A>G Multiple submitters Peutz-Jeghers syndrome
c.598-6C>T Multiple submitters Peutz-Jeghers syndrome
c.598-9C>T Multiple submitters Peutz-Jeghers syndrome
c.734+11C>T Multiple submitters hereditary neoplastic syndrome
c.734+12G>A Multiple submitters hereditary neoplastic syndrome
c.734+13C>A Multiple submitters Peutz-Jeghers syndrome
c.734+14C>T Multiple submitters hereditary neoplastic syndrome
c.734+15C>G Multiple submitters hereditary neoplastic syndrome
c.734+17C>A Multiple submitters hereditary neoplastic syndrome
c.734+19C>G Multiple submitters hereditary neoplastic syndrome
c.734+19C>T Multiple submitters Peutz-Jeghers syndrome
c.734+20G>C Multiple submitters hereditary neoplastic syndrome
c.734+22del Multiple submitters Peutz-Jeghers syndrome
c.734+8C>A Multiple submitters Peutz-Jeghers syndrome
c.734+8C>T Multiple submitters Peutz-Jeghers syndrome
c.735-12C>T Multiple submitters hereditary neoplastic syndrome
c.735-13C>T Multiple submitters hereditary neoplastic syndrome
c.735-14C>T Multiple submitters hereditary neoplastic syndrome
c.735-15C>T Multiple submitters Peutz-Jeghers syndrome
c.735-17C>T Multiple submitters Peutz-Jeghers syndrome
c.735-19C>T Multiple submitters Peutz-Jeghers syndrome
c.735-4G>A Multiple submitters hereditary neoplastic syndrome
c.735-9G>C Multiple submitters hereditary neoplastic syndrome
c.862+11C>T Multiple submitters hereditary neoplastic syndrome
c.862+12A>G Multiple submitters Peutz-Jeghers syndrome
c.862+14C>T Multiple submitters hereditary neoplastic syndrome
c.862+15C>T Multiple submitters hereditary neoplastic syndrome
c.862+16C>G Multiple submitters hereditary neoplastic syndrome
c.862+16C>T Multiple submitters hereditary neoplastic syndrome
c.862+20G>T Multiple submitters hereditary neoplastic syndrome
c.862+8C>T Multiple submitters hereditary neoplastic syndrome
c.863-10T>G Multiple submitters hereditary neoplastic syndrome
c.863-11C>T Multiple submitters Peutz-Jeghers syndrome
c.863-13G>C Multiple submitters Peutz-Jeghers syndrome
c.863-14C>T Multiple submitters hereditary neoplastic syndrome
c.863-15C>T Multiple submitters familial ovarian cancer
c.863-16G>T Multiple submitters Peutz-Jeghers syndrome
c.863-19C>T Multiple submitters Peutz-Jeghers syndrome
c.863-20C>T Multiple submitters hereditary neoplastic syndrome
c.863-7T>C Multiple submitters hereditary neoplastic syndrome
c.863-9T>C Multiple submitters Peutz-Jeghers syndrome
c.920+10C>T Multiple submitters Peutz-Jeghers syndrome
c.920+12C>G Multiple submitters familial ovarian cancer
c.920+17G>T Multiple submitters hereditary neoplastic syndrome
c.920+32G>A Multiple submitters Peutz-Jeghers syndrome
c.920+7_920+8delinsCA Multiple submitters Peutz-Jeghers syndrome
c.920+7G>T Multiple submitters hereditary neoplastic syndrome
c.920+9C>A Multiple submitters Peutz-Jeghers syndrome
c.920+9C>G Multiple submitters Peutz-Jeghers syndrome
c.920+9C>T Multiple submitters Peutz-Jeghers syndrome
c.921-13T>C Multiple submitters Peutz-Jeghers syndrome
c.921-15T>C Multiple submitters Peutz-Jeghers syndrome
c.921-17C>T Multiple submitters Peutz-Jeghers syndrome
c.921-18_921-15del Multiple submitters hereditary neoplastic syndrome
c.921-18G>A Multiple submitters hereditary neoplastic syndrome
c.921-19T>C Multiple submitters Peutz-Jeghers syndrome
c.921-20C>T Multiple submitters Peutz-Jeghers syndrome
c.921-4G>A Multiple submitters hereditary neoplastic syndrome
c.921-6T>C Multiple submitters Peutz-Jeghers syndrome
c.921-8G>C Multiple submitters Peutz-Jeghers syndrome
c.921-9del Multiple submitters Peutz-Jeghers syndrome
c.-11C>T Multiple submitters hereditary neoplastic syndrome
c.*16+16G>C Multiple submitters
c.*16+234G>C Multiple submitters
c.*16+7C>T Multiple submitters
c.*353C>A Multiple submitters Peutz-Jeghers syndrome
c.*38A>T Multiple submitters hereditary neoplastic syndrome
c.*613C>T Multiple submitters Peutz-Jeghers syndrome
p.Ala200= Multiple submitters Peutz-Jeghers syndrome
p.Ala273= Multiple submitters hereditary neoplastic syndrome
p.Ala389= Multiple submitters Peutz-Jeghers syndrome
p.Ala429= Multiple submitters hereditary neoplastic syndrome
p.Asn181= Multiple submitters hereditary neoplastic syndrome
p.Asp141= Multiple submitters hereditary neoplastic syndrome
p.Cys278= Multiple submitters hereditary neoplastic syndrome
p.Gln159= Multiple submitters hereditary neoplastic syndrome
p.Gln302= Multiple submitters hereditary neoplastic syndrome
p.Gln433= Multiple submitters hereditary neoplastic syndrome
p.Glu130= Multiple submitters hereditary neoplastic syndrome
p.Glu396= Multiple submitters Peutz-Jeghers syndrome
p.Glu70= Multiple submitters hereditary neoplastic syndrome
p.Gly180= Multiple submitters hereditary neoplastic syndrome
p.Gly187= Multiple submitters Peutz-Jeghers syndrome
p.Gly56= Multiple submitters hereditary neoplastic syndrome
p.Gly58= Multiple submitters hereditary neoplastic syndrome
p.His202= Multiple submitters hereditary neoplastic syndrome
p.His27= Multiple submitters hereditary neoplastic syndrome
p.His306= Multiple submitters hereditary neoplastic syndrome
p.Ile26= Multiple submitters Peutz-Jeghers syndrome
p.Leu113= Multiple submitters Peutz-Jeghers syndrome
p.Leu182= Multiple submitters Peutz-Jeghers syndrome
p.Leu54= Multiple submitters hereditary neoplastic syndrome
p.Leu67= Multiple submitters hereditary neoplastic syndrome
p.Lys146= Multiple submitters hereditary neoplastic syndrome
p.Lys235= Multiple submitters hereditary neoplastic syndrome
p.Lys41= Multiple submitters Peutz-Jeghers syndrome
p.Pro323= Multiple submitters hereditary neoplastic syndrome
p.Pro6= Multiple submitters Peutz-Jeghers syndrome
p.Ser169= Multiple submitters hereditary neoplastic syndrome
p.Ser193= Multiple submitters hereditary neoplastic syndrome
p.Ser271= Multiple submitters hereditary neoplastic syndrome
p.Thr212= Multiple submitters hereditary neoplastic syndrome
p.Thr250= Multiple submitters Peutz-Jeghers syndrome
p.Thr71= Multiple submitters hereditary neoplastic syndrome
p.Val143= Multiple submitters Peutz-Jeghers syndrome
p.Val320= Multiple submitters hereditary neoplastic syndrome
c.1108+460C>T Single submitter
c.1108+479G>A Single submitter
c.1108+521C>T Single submitter
c.1108+527C>T Single submitter
c.1108+531G>C Single submitter
c.1108+7C>G Single submitter hereditary neoplastic syndrome
c.1109-11C>G Single submitter Peutz-Jeghers syndrome
c.1109-13G>C Single submitter Peutz-Jeghers syndrome
c.1109-16G>T Single submitter Peutz-Jeghers syndrome
c.1109-19C>A Single submitter Peutz-Jeghers syndrome
c.1109-19C>G Single submitter Peutz-Jeghers syndrome
c.1109-20A>G Single submitter Peutz-Jeghers syndrome
c.1109-23del Single submitter
c.1109-256G>A Single submitter Inherited polyposis and early onset colorectal cancer - germline testing
c.1109-3del Single submitter Peutz-Jeghers syndrome
c.1109-5C>A Single submitter Peutz-Jeghers syndrome
c.1109-6_1109-5insGTGCCGTCTCCCT Single submitter Peutz-Jeghers syndrome
c.1109-7C>T Single submitter Peutz-Jeghers syndrome
c.290+10G>A Single submitter Peutz-Jeghers syndrome
c.290+13T>A Single submitter
c.290+15C>A Single submitter Peutz-Jeghers syndrome
c.290+16T>G Single submitter Peutz-Jeghers syndrome
c.290+19G>A Single submitter Peutz-Jeghers syndrome
c.290+19G>C Single submitter Peutz-Jeghers syndrome
c.290+19G>T Single submitter Peutz-Jeghers syndrome
c.290+20G>A Single submitter Peutz-Jeghers syndrome
c.290+20G>T Single submitter Peutz-Jeghers syndrome
c.290+21T>G Single submitter
c.290+3_290+8dup Single submitter hereditary neoplastic syndrome
c.290+38C>T Single submitter
c.290+41T>C Single submitter
c.290+7A>T Single submitter Peutz-Jeghers syndrome
c.290+9G>A Single submitter Peutz-Jeghers syndrome
c.291-10T>C Single submitter Peutz-Jeghers syndrome
c.291-11C>G Single submitter Peutz-Jeghers syndrome
c.291-12_291-10dup Single submitter hereditary neoplastic syndrome
c.291-14C>G Single submitter Peutz-Jeghers syndrome
c.291-16G>A Single submitter Peutz-Jeghers syndrome
c.291-18C>G Single submitter Peutz-Jeghers syndrome
c.291-19C>A Single submitter hereditary neoplastic syndrome
c.291-19C>T Single submitter Peutz-Jeghers syndrome
c.291-20C>A Single submitter Peutz-Jeghers syndrome
c.291-40C>T Single submitter
c.291-4C>G Single submitter hereditary neoplastic syndrome
c.291-5C>G Single submitter Peutz-Jeghers syndrome
c.374+10C>T Single submitter Peutz-Jeghers syndrome
c.374+12G>T Single submitter Peutz-Jeghers syndrome
c.374+14T>C Single submitter Peutz-Jeghers syndrome
c.374+18G>A Single submitter Peutz-Jeghers syndrome
c.374+18G>C Single submitter Peutz-Jeghers syndrome
c.374+19_374+24del Single submitter Peutz-Jeghers syndrome
c.374+254C>T Single submitter
c.374+272G>A Single submitter
c.374+7T>G Single submitter hereditary neoplastic syndrome
c.374+9T>C Single submitter Peutz-Jeghers syndrome
c.375-14C>T Single submitter Peutz-Jeghers syndrome
c.375-15T>C Single submitter Peutz-Jeghers syndrome
c.375-16_375-15delinsCC Single submitter Peutz-Jeghers syndrome
c.375-16G>A Single submitter Peutz-Jeghers syndrome
c.375-16G>C Single submitter Peutz-Jeghers syndrome
c.375-17T>G Single submitter Peutz-Jeghers syndrome
c.375-18G>A Single submitter Peutz-Jeghers syndrome
c.375-18G>C Single submitter Peutz-Jeghers syndrome
c.375-20G>A Single submitter Peutz-Jeghers syndrome
c.375-20G>T Single submitter Peutz-Jeghers syndrome
c.375-26del Single submitter
c.375-29C>T Single submitter
c.375-33C>T Single submitter Peutz-Jeghers syndrome
c.375-3C>T Single submitter Peutz-Jeghers syndrome
c.375-4C>A Single submitter hereditary neoplastic syndrome
c.375-6C>A Single submitter Peutz-Jeghers syndrome
c.375-6C>T Single submitter Peutz-Jeghers syndrome
c.375-8C>G Single submitter Peutz-Jeghers syndrome
c.375-9G>C Single submitter Peutz-Jeghers syndrome
c.464+10dup Single submitter Peutz-Jeghers syndrome
c.464+11_464+12delinsCT Single submitter hereditary neoplastic syndrome
c.464+11_464+13delinsCGC Single submitter hereditary neoplastic syndrome
c.464+11G>C Single submitter
c.464+11G>T Single submitter Peutz-Jeghers syndrome
c.464+12G>A Single submitter hereditary neoplastic syndrome
c.464+12G>T Single submitter hereditary neoplastic syndrome
c.464+14G>C Single submitter Peutz-Jeghers syndrome
c.464+15C>A Single submitter Peutz-Jeghers syndrome
c.464+16A>G Single submitter Peutz-Jeghers syndrome
c.464+17delinsCGCACCCGT Single submitter hereditary neoplastic syndrome
c.464+17G>C Single submitter Peutz-Jeghers syndrome
c.464+18G>A Single submitter hereditary neoplastic syndrome
c.464+18G>C Single submitter Peutz-Jeghers syndrome
c.464+19G>A Single submitter hereditary neoplastic syndrome
c.464+19G>C Single submitter Peutz-Jeghers syndrome
c.464+20G>A Single submitter hereditary neoplastic syndrome
c.464+21_464+26dup Single submitter Peutz-Jeghers syndrome
c.464+23_464+27del Single submitter
c.464+23_464+39del Single submitter hereditary neoplastic syndrome
c.464+32C>G Single submitter
c.464+32C>T Single submitter
c.464+34G>T Single submitter
c.464+36G>T Single submitter
c.464+38_464+39insTGGGGGC Single submitter
c.464+39_464+40insAGGGGCC Single submitter
c.464+9_464+11delinsCCC Single submitter hereditary neoplastic syndrome
c.464+9_464+13inv Single submitter hereditary neoplastic syndrome
c.465-10C>T Single submitter Peutz-Jeghers syndrome
c.465-11G>C Single submitter hereditary neoplastic syndrome
c.465-12T>G Single submitter Peutz-Jeghers syndrome
c.465-17G>T Single submitter hereditary neoplastic syndrome
c.465-18G>C Single submitter Peutz-Jeghers syndrome
c.465-20C>A Single submitter Peutz-Jeghers syndrome
c.465-6C>A Single submitter Peutz-Jeghers syndrome
c.465-8G>C Single submitter Peutz-Jeghers syndrome
c.597+10T>C Single submitter
c.597+12C>T Single submitter Peutz-Jeghers syndrome
c.597+13T>C Single submitter Peutz-Jeghers syndrome
c.597+13T>G Single submitter Peutz-Jeghers syndrome
c.597+14A>T Single submitter Peutz-Jeghers syndrome
c.597+15G>C Single submitter Peutz-Jeghers syndrome
c.597+15G>T Single submitter Peutz-Jeghers syndrome
c.597+16_597+17insCAC Single submitter hereditary neoplastic syndrome
c.597+16_597+17insTA Single submitter Peutz-Jeghers syndrome
c.597+16G>C Single submitter Peutz-Jeghers syndrome
c.597+17_597+18delinsCACGT Single submitter hereditary neoplastic syndrome
c.597+17_597+19delinsCACGTGCTA Single submitter hereditary neoplastic syndrome
c.597+17G>T Single submitter Peutz-Jeghers syndrome
c.597+18_597+19delinsTGCTA Single submitter hereditary neoplastic syndrome
c.597+18G>C Single submitter Peutz-Jeghers syndrome
c.597+18G>T Single submitter hereditary neoplastic syndrome
c.597+19_597+20insCTA Single submitter hereditary neoplastic syndrome
c.597+19G>A Single submitter Peutz-Jeghers syndrome

Uncertain significance 986

Showing the top 300 by review status; the full set is in the sitemap.

c.290+4_290+7del Multiple submitters hereditary neoplastic syndrome
c.290+4A>G Multiple submitters Peutz-Jeghers syndrome
c.290+4del Multiple submitters hereditary neoplastic syndrome
c.291-3C>T Multiple submitters hereditary neoplastic syndrome
c.374+5C>A Multiple submitters hereditary neoplastic syndrome
c.374+6del Multiple submitters Peutz-Jeghers syndrome
c.375-1C>A Multiple submitters hereditary neoplastic syndrome
c.375-1C>T Multiple submitters hereditary neoplastic syndrome
c.465-6C>G Multiple submitters hereditary neoplastic syndrome
c.598-3C>T Multiple submitters hereditary neoplastic syndrome
c.734_734+19dup Multiple submitters hereditary neoplastic syndrome
c.734+3A>G Multiple submitters hereditary neoplastic syndrome
c.862+5G>A Multiple submitters hereditary neoplastic syndrome
c.920+3G>T Multiple submitters hereditary neoplastic syndrome
c.921-3C>T Multiple submitters hereditary neoplastic syndrome
c.-4C>T Multiple submitters Peutz-Jeghers syndrome
c.-5C>T Multiple submitters hereditary neoplastic syndrome
c.*202C>G Multiple submitters Peutz-Jeghers syndrome
p.Ala200Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala206Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala206Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala206Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala218Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala218Thr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Ala225Thr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Ala241Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala295Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala318Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala318Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala389Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala397Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala398Leu Multiple submitters hereditary neoplastic syndrome
p.Ala406Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala410Asp Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Ala414Ser Multiple submitters Peutz-Jeghers syndrome ⚠
p.Ala417Asp Multiple submitters Peutz-Jeghers syndrome ⚠
p.Ala417Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala417Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala420Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala429_Ter434= Multiple submitters hereditary neoplastic syndrome
p.Ala429Thr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Ala43Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala76Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala93Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg103Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg104Ser Multiple submitters hereditary neoplastic syndrome
p.Arg104Thr Multiple submitters hereditary neoplastic syndrome
p.Arg106Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg211Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg310Gln Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Arg310Trp Multiple submitters Peutz-Jeghers syndrome ⚠
p.Arg383Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg384Gly Multiple submitters Peutz-Jeghers syndrome ⚠
p.Arg39Cys Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Arg39His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg39Ser Multiple submitters Peutz-Jeghers syndrome ⚠
p.Arg405Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg409Pro Multiple submitters Peutz-Jeghers syndrome ⚠
p.Arg40del Multiple submitters hereditary neoplastic syndrome
p.Arg415Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg415Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg415Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg425Cys Multiple submitters hereditary neoplastic syndrome
p.Arg425Leu Multiple submitters Peutz-Jeghers syndrome
p.Arg425Pro Multiple submitters hereditary neoplastic syndrome
p.Arg425Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg426Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg426Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg426Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg42Gly Multiple submitters Peutz-Jeghers syndrome ⚠
p.Arg42Trp Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Arg75Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg86Gln Multiple submitters Peutz-Jeghers syndrome ⚠
p.Asn226Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn247Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn247Ser Multiple submitters Peutz-Jeghers syndrome
p.Asn266Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn380His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn393Lys Multiple submitters Peutz-Jeghers syndrome ⚠
p.Asn393Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn412Lys Multiple submitters STK11-related disorder ⚠
p.Asn94Ser Multiple submitters hereditary neoplastic syndrome
p.Asp115Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp141Glu Multiple submitters Peutz-Jeghers syndrome ⚠
p.Asp207Glu Multiple submitters Peutz-Jeghers syndrome ⚠
p.Asp207Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp208Asn Multiple submitters Peutz-Jeghers syndrome ⚠
p.Asp237Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp23Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp258Asn Multiple submitters Peutz-Jeghers syndrome ⚠
p.Asp277Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp277His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp277Tyr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Asp284Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp284His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp30Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp327Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp327Gly Multiple submitters Peutz-Jeghers syndrome ⚠
p.Asp327Tyr Multiple submitters Peutz-Jeghers syndrome
p.Asp365Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp53Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp5Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys132Tyr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Cys134Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys134Tyr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Cys158Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys158Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys278Tyr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Cys391Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys391Tyr Multiple submitters Peutz-Jeghers syndrome
p.Cys73Arg Multiple submitters Peutz-Jeghers syndrome
p.Cys73Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln100Arg Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Gln100His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln112Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln112His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln123Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln123Glu Multiple submitters hereditary neoplastic syndrome
p.Gln123Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln137Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln159Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln170Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln170Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln302Leu Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gln305Arg Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gln37Arg Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gln37His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln382His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln399His Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gln432His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln432Ter Multiple submitters hereditary neoplastic syndrome
p.Gln8Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu120Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu120Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu121Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu145Gln Multiple submitters Peutz-Jeghers syndrome ⚠
p.Glu145Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu14Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu14Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu165Gly Multiple submitters Peutz-Jeghers syndrome ⚠
p.Glu199Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu223Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu256Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu256Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu265Asp Multiple submitters Peutz-Jeghers syndrome ⚠
p.Glu293Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu2Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu317Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu33Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu374Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu374Lys Multiple submitters Peutz-Jeghers syndrome ⚠
p.Glu375Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu375Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu376Asp Multiple submitters Peutz-Jeghers syndrome ⚠
p.Glu376del Multiple submitters Peutz-Jeghers syndrome
p.Glu376Lys Multiple submitters Peutz-Jeghers syndrome ⚠
p.Glu396Gln Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Glu407Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu70Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu70Gly Multiple submitters hereditary neoplastic syndrome
p.Glu92Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu92Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly10Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly155Trp Multiple submitters hereditary neoplastic syndrome
p.Gly15Asp Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly171Ser Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly180Glu Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly187Arg Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly215Val Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly21Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly21Cys Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly21Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly227Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly233Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly233Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly268Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly279Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly370Ala Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly370Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly381Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly381Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly394Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly47Asp Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly47Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly58Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly61Asp Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly61Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly91Arg Multiple submitters Peutz-Jeghers syndrome ⚠
p.Gly91Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.His154Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His168Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His168Pro Multiple submitters Peutz-Jeghers syndrome ⚠
p.His202Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His202Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His313Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His313Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His379Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His379Tyr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Ile161Thr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Ile224Val Multiple submitters hereditary neoplastic syndrome
p.Ile238Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile248Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile267Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile26Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile274Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile29Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile300Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile300Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile303Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile322Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile35Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile46Leu Multiple submitters Peutz-Jeghers syndrome
p.Ile79Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile88Met Multiple submitters Peutz-Jeghers syndrome ⚠
p.Leu113Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu117Phe Multiple submitters hereditary neoplastic syndrome
p.Leu117Ser Multiple submitters Peutz-Jeghers syndrome ⚠
p.Leu160Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu17Val Multiple submitters Peutz-Jeghers syndrome ⚠
p.Leu184Ile Multiple submitters Peutz-Jeghers syndrome
p.Leu184Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu282Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu290Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu353Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu386Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu386Ile Multiple submitters Peutz-Jeghers syndrome ⚠
p.Leu386Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu386Pro Multiple submitters Peutz-Jeghers syndrome ⚠
p.Leu400Arg Multiple submitters Peutz-Jeghers syndrome ⚠
p.Leu400Gln Multiple submitters Peutz-Jeghers syndrome ⚠
p.Leu427Pro Multiple submitters hereditary neoplastic syndrome
p.Leu45Val Multiple submitters Peutz-Jeghers syndrome ⚠
p.Leu50Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu54Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu80Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu80Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu9Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu9Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys108Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys122Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys146Arg Multiple submitters Peutz-Jeghers syndrome ⚠
p.Lys175Arg Multiple submitters hereditary neoplastic syndrome
p.Lys175Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys235Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys262Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys269Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys287Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys388Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys388Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys416Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys41Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys41Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys423Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys431fs Multiple submitters Peutz-Jeghers syndrome
p.Lys431Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys48Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys48Thr Multiple submitters Peutz-Jeghers syndrome ⚠
p.Lys78Arg Multiple submitters Peutz-Jeghers syndrome ⚠
p.Lys81Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys81Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys84Gln Multiple submitters Peutz-Jeghers syndrome ⚠
p.Lys96Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys97= Multiple submitters hereditary neoplastic syndrome
p.Met11Ile Multiple submitters Peutz-Jeghers syndrome ⚠
p.Met11Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Met11Val Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Met125Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met127Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met129Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met136Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met136Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met18Ile Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠
p.Met18Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Met18Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met1Leu Multiple submitters hereditary neoplastic syndrome
p.Met22Arg Multiple submitters Peutz-Jeghers syndrome ⚠
p.Met22Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met289Leu Multiple submitters Peutz-Jeghers syndrome
p.Met392Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Met51Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met51Val Multiple submitters Peutz-Jeghers syndrome ⚠
p.Phe157Val Multiple submitters Peutz-Jeghers syndrome ⚠
p.Phe204Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe204Val Multiple submitters Peutz-Jeghers syndrome ⚠
p.Phe219Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe231del Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1
p.Phe264Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro144Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro179Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro203Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro217Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro217Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro221Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro254Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro254Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro275Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro280Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro280Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro280Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro280Thr Multiple submitters melanoma, cutaneous malignant, susceptibility to, 1 ⚠