TP53 — 3147 ClinVar variants

All ClinVar germline TP53 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1001 flagged for review →

464 Pathogenic · 184 Pathogenic/Likely pathogenic · 171 Likely pathogenic · 499 Conflicting · 90 Benign · 193 Benign/Likely benign · 680 Likely benign · 866 Uncertain significance

Full TP53 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1001

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 vs ClinVar 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

TP53 p.Arg110Gly Likely pathogenic Expert panel
Li-Fraumeni syndrome
TP53 p.Arg110Leu Pathogenic Expert panel
Li-Fraumeni syndrome
TP53 p.Ser106Arg Pathogenic Expert panel
Li-Fraumeni syndrome
TP53 p.Asn131His Likely pathogenic Single submitter
breast-ovarian cancer, familial, susceptibility to, 1
TP53 p.Gln165Leu Pathogenic No assertion criteria
acute myeloid leukemia
TP53 p.His296Arg Likely pathogenic No assertion criteria

Predictors agree, ClinVar conflicts 364

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 364

TP53 p.Ala129Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala129Thr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala159Pro Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala159Thr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala161Asp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala276Asp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala276Pro Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala307Thr Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Ala307Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala355Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala355Ser Conflicting Single submitter
hereditary breast carcinoma
TP53 p.Ala355Thr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala355Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala364Ser Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Ala39Val Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Ala69Thr Conflicting Single submitter
hereditary breast carcinoma
TP53 p.Ala69Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala74Gly Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Ala76Thr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala78Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala84Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala86Pro Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Ala86Thr Conflicting Single submitter
adrenocortical carcinoma, hereditary
TP53 p.Ala86Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala88Thr Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Ala88Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg156Cys Conflicting Single submitter
glioma susceptibility 1
TP53 p.Arg156Gly Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Arg174Lys Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Arg175Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg196Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg196Leu Conflicting Single submitter
adrenocortical carcinoma, hereditary
TP53 p.Arg202Cys Conflicting Single submitter
adrenocortical carcinoma, hereditary
TP53 p.Arg202Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg202His Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg209Gly Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Arg209Ser Conflicting Single submitter
adrenocortical carcinoma, hereditary
TP53 p.Arg213Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg213Leu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg249Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg249Met Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg249Trp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg280Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg280Ile Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg280Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg282Gln Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg290Gly Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Arg306Gln Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Arg335His Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg363Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg379Cys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg65Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn131Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn235Asp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn239Asp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn239Ile Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Asn239Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn239Thr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn247Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn263Asp Conflicting Single submitter
Hereditary cancer
TP53 p.Asn310Asp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn310Lys Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Asn311His Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asn311Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp148Ala Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp207Asn Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp208Asn Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp208Tyr Conflicting Single submitter
lung adenocarcinoma
TP53 p.Asp208Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp21Glu Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Asp228Glu Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Asp259Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp324His Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp352Glu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp352Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp391Asn Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp393Asn Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp393Glu Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Asp393His Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp41Asn Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp41Gly Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Asp42Asn Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp42Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp49Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp57Glu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp61Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp61Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Asp7His Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys135Trp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys135Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys141Arg Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys141Phe Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Cys176Arg Conflicting Single submitter
breast neoplasm
TP53 p.Cys176Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys176Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys176Trp Conflicting Single submitter
TP53-related disorder
TP53 p.Cys229Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys229Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys242Arg Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys242Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys242Phe Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys275Arg Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys275Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys275Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys275Trp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys277Phe Conflicting Single submitter
TP53-related disorder
TP53 p.Cys277Tyr Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln104Leu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln136Glu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln136Pro Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln144Pro Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln165Glu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln165Lys Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Gln317Arg Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Gln317His Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln331Arg Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln331Glu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln354Arg Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Gln5Arg Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Glu11Gln Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu11Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu258Asp Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Glu258Gly Conflicting Single submitter
bone osteosarcoma
TP53 p.Glu258Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu271Lys Conflicting Single submitter
diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
TP53 p.Glu286Gln Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Glu286Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu287Asp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu287Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu28Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu294Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu298Gln Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Glu2Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu339Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu343Gln Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Glu346Asp Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu346Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu358Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu358Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu3Lys Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Glu62Lys Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Gly105Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gly112Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gly154Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gly226Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gly244Cys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gly245Arg Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gly262Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gly266Val Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gly279Arg Conflicting Single submitter
Li-Fraumeni syndrome 1

Predicted LoF vs a conflicting call 3

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.

TP53 c.1101-1G>A Conflicting Single submitter
familial pancreatic carcinoma
TP53 c.376-2dup Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Pro390fs Conflicting Single submitter
hereditary breast ovarian cancer syndrome

Predictors lean, ClinVar uncertain 390

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 390

TP53 p.Ala138Asp Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Ala138Thr Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Ala69Gly Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Arg156His Uncertain significance Expert panel
Li-Fraumeni syndrome 1
TP53 p.Arg158Cys Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Arg175Cys Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Arg196Gln Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Arg282Leu Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Cys277Arg Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Gln144Leu Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Gly105Ser Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Gly154Arg Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Gly334Arg Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.His368Tyr Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Leu35Phe Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Pro219Leu Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Ala119Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala119Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala276Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala307Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala355Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala364Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala364Val Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Ala70Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala76Val Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Arg174Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Arg174Ser Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Arg202Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Arg267Leu Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Arg283Gly Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Arg283His Uncertain significance Multiple submitters
TP53-related disorder
TP53 p.Arg363Lys Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Asn235Ile Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Asn29Lys Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Asn29Thr Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Asn311Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Asp208Gly Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Asp208His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Asp228Asn Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Asp259Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Asp259His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Asp57Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Cys277Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gln136His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gln136Leu Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
TP53 p.Gln167Pro Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Gln192Glu Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Gln317Leu Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Gln331Lys Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Gln52Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu198Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu221Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu258Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Glu271Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu285Gln Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Glu285Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu2Gly Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Glu343Asp Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Glu3Gln Uncertain significance Multiple submitters
lung adenocarcinoma
TP53 p.Glu3Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu68Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly117Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly154Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly187Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Gly199Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly199Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly334Glu Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Gly361Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.His178Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.His297Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.His368Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ile195Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ile251Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ile50Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Leu330Arg Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Leu344Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Leu350Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Leu43Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Leu93Pro Uncertain significance Multiple submitters
TP53 p.Lys101Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Lys101Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Lys120Gln Uncertain significance Multiple submitters
TP53-related disorder
TP53 p.Lys120Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Lys139Gln Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Lys139Glu Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Lys139Thr Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Lys320Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Lys351Glu Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Met169Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Met237Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Met66Arg Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Phe109Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Phe328Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Phe338Cys Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Phe338Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro142Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro142Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro152Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro177His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro177Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro177Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro191His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro223Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro250Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro27Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro309Leu Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Pro34Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro36Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro47Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro64Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro67Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro80Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro85Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro98Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro98Arg Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro98Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser121Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser149Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser149Pro Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Ser166Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser215Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser227Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser240Arg Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Ser261Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser269Arg Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Ser314Cys Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Ser315Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser315Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser362Gly Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Ser366Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser366Pro Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Ser366Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser367Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser37Cys Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Ser90Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr125Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr170Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr231Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr253Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr256Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr256Ile Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Thr304Ile Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Thr312Ile Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Thr377Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val197Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val216Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val31Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val97Ile Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 c.-1635C>T Uncertain significance Single submitter
TP53 c.-1650T>G Uncertain significance Single submitter

Predictors split 238

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 238

TP53 p.Ala138Gly Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Ala347Thr Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Arg110Cys Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Arg181Cys Likely pathogenic Expert panel
Li-Fraumeni syndrome
TP53 p.Arg181Ser Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Arg267Gln Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Arg290Cys Benign Expert panel
Li-Fraumeni syndrome
TP53 p.Arg333Cys Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.Arg337Leu Likely pathogenic Expert panel
Li-Fraumeni syndrome
TP53 p.Asn131Lys Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Gln16Lys Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Glu339Gln Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.Gly154Asp Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Gly293Trp Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.His214Arg Pathogenic Expert panel
Li-Fraumeni syndrome
TP53 p.His214Leu Likely pathogenic Expert panel
Li-Fraumeni syndrome
TP53 p.His214Tyr Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.His365Tyr Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.Ile254Val Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.Leu264Pro Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Met160Ile Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.Met237Ile Pathogenic Expert panel
Li-Fraumeni syndrome 1
TP53 p.Phe212Ile Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Pro13Ser Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Pro190Leu Pathogenic Expert panel
Li-Fraumeni syndrome
TP53 p.Pro72His Benign Expert panel
Li-Fraumeni syndrome
TP53 p.Pro82Leu Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.Ser260Tyr Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.Thr170Met Likely benign Expert panel
Li-Fraumeni syndrome
TP53 p.Val203Met Uncertain significance Expert panel
Li-Fraumeni syndrome
TP53 p.Ala161Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala189Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala347Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala79Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Arg110Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Arg181His Pathogenic/Likely pathogenic Multiple submitters
TP53-related disorder
TP53 p.Arg290Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Asn131Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Asn200Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Asp324Tyr Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Cys182Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Cys229Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Cys277Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gln144Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gln167Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gln16His Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Glu180Asp Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Glu224Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu224Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu224Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Glu326Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly108Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly108Asp Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Gly112Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly154Ser Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Gly187Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Gly226Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Gly226Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.His178Asn Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.His214Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.His214Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ile251Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Lys120Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Lys292Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Lys351Asn Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Lys382Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Met133Thr Pathogenic Multiple submitters
hereditary neoplastic syndrome
TP53 p.Met169Ile Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Met237Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Met243Leu Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Met340Lys Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Pro128Leu Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro142Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro190Ser Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro190Thr Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Pro250Ala Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Pro250Leu Pathogenic/Likely pathogenic Multiple submitters
hereditary neoplastic syndrome
TP53 p.Pro250Ser Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro27Arg Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Pro87Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser20Leu Uncertain significance Multiple submitters
Li-Fraumeni syndrome 1
TP53 p.Ser20Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ser95Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr123Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr140Ser Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Thr170Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr211Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Thr230Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Thr231Ile Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Thr231Ser Uncertain significance Multiple submitters
adrenocortical carcinoma, hereditary
TP53 p.Tyr107Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val122Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val143Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val147Ala Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Val172Ile Uncertain significance Multiple submitters
Li-Fraumeni syndrome
TP53 p.Val203Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val272Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Val97Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
TP53 p.Ala119Gly Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Ala189Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Ala189Val Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Ala347Gly Likely benign Single submitter
hereditary breast ovarian cancer syndrome
TP53 p.Ala78Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Ala83Glu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg156Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Arg181Leu Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg249Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Arg290Pro Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asn200His Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asn200Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Asn263Tyr Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asn288Asp Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asn345Ser Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asp148Tyr Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Asp184Gly Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asp184His Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asp207His Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Asp208Glu Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Asp21Ala Likely benign Single submitter
hereditary neoplastic syndrome
TP53 p.Asp228Tyr Likely benign Single submitter
hereditary neoplastic syndrome
TP53 p.Asp259Asn Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asp352His Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asp393Gly Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Asp393Tyr Likely benign Single submitter
hereditary neoplastic syndrome
TP53 p.Cys124Arg Likely pathogenic Single submitter
Li-Fraumeni syndrome
TP53 p.Cys124Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Cys124Ser Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Cys124Trp Likely benign Single submitter
hereditary neoplastic syndrome
TP53 p.Cys135Ser Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Cys182Arg Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Cys182Gly Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Cys229Arg Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Gln144His Uncertain significance Single submitter
TP53 p.Gln16Arg Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln192Arg Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln192Pro Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Gln354Pro Likely benign Single submitter
hereditary neoplastic syndrome
TP53 p.Glu204Asp Likely benign Single submitter
hereditary neoplastic syndrome
TP53 p.Glu204Val Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Glu224Asp Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Glu286Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
TP53 p.Glu336Gly Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu339Gly Conflicting Single submitter
Li-Fraumeni syndrome 1
TP53 p.Glu339Val Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Glu346Lys Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu349Gln Conflicting Single submitter
hereditary neoplastic syndrome
TP53 p.Glu349Lys Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Gly108Cys Conflicting Single submitter
Li-Fraumeni syndrome
TP53 p.Gly154Ala Uncertain significance Single submitter
Li-Fraumeni syndrome
TP53 p.Gly187Arg Conflicting Single submitter
hereditary neoplastic syndrome

All TP53 variants

Pathogenic 464

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

c.919+1G>A Expert panel Li-Fraumeni syndrome
c.97-1G>A Expert panel Li-Fraumeni syndrome
p.Ala347Asp Expert panel Li-Fraumeni syndrome
p.Arg110Leu Expert panel Li-Fraumeni syndrome ⚠
p.Arg110Pro Expert panel Li-Fraumeni syndrome
p.Arg158Leu Expert panel Li-Fraumeni syndrome
p.Arg158Pro Expert panel Li-Fraumeni syndrome
p.Arg175Gly Expert panel Li-Fraumeni syndrome
p.Arg175His Expert panel Li-Fraumeni syndrome
p.Arg213fs Expert panel Li-Fraumeni syndrome 1
p.Arg248Gln Expert panel Li-Fraumeni syndrome
p.Arg248Leu Expert panel Li-Fraumeni syndrome
p.Arg248Trp Expert panel Li-Fraumeni syndrome
p.Arg273His Expert panel Li-Fraumeni syndrome
p.Arg283Pro Expert panel Li-Fraumeni syndrome
p.Arg337Cys Expert panel Li-Fraumeni syndrome
p.Arg342Pro Expert panel Li-Fraumeni syndrome
p.Cys124Ter Expert panel Li-Fraumeni syndrome
p.Cys135Gly Expert panel Li-Fraumeni syndrome
p.Glu286Val Expert panel Li-Fraumeni syndrome
p.Glu298Ter Expert panel Li-Fraumeni syndrome
p.Gly245Ser Expert panel Li-Fraumeni syndrome
p.Gly279Glu Expert panel Li-Fraumeni syndrome
p.His178Asp Expert panel Li-Fraumeni syndrome
p.His193Pro Expert panel Li-Fraumeni syndrome
p.His214Arg Expert panel Li-Fraumeni syndrome ⚠
p.Ile254Thr Expert panel Li-Fraumeni syndrome
p.Leu111Arg Expert panel Li-Fraumeni syndrome
p.Leu111Gln Expert panel Li-Fraumeni syndrome
p.Leu111Pro Expert panel Li-Fraumeni syndrome
p.Leu194Arg Expert panel Li-Fraumeni syndrome
p.Leu252_Ile254del Expert panel Li-Fraumeni syndrome
p.Lys132Asn Expert panel Li-Fraumeni syndrome
p.Lys164Glu Expert panel Li-Fraumeni syndrome
p.Met237Ile Expert panel Li-Fraumeni syndrome 1 ⚠
p.Pro152Leu Expert panel Li-Fraumeni syndrome
p.Pro190Leu Expert panel Li-Fraumeni syndrome ⚠
p.Pro278His Expert panel Li-Fraumeni syndrome
p.Ser106Arg Expert panel Li-Fraumeni syndrome ⚠
p.Ser127Tyr Expert panel Li-Fraumeni syndrome
p.Tyr163Cys Expert panel Li-Fraumeni syndrome
p.Tyr163His Expert panel Li-Fraumeni syndrome
p.Tyr220Cys Expert panel Li-Fraumeni syndrome
p.Val143Ala Expert panel Li-Fraumeni syndrome
p.Val173Met Expert panel Li-Fraumeni syndrome
p.Val272Met Expert panel Li-Fraumeni syndrome 1
c.376-1G>T Multiple submitters hereditary neoplastic syndrome
c.560-1G>A Multiple submitters adrenocortical carcinoma, hereditary
c.560-1G>C Multiple submitters hereditary neoplastic syndrome
c.560-2A>C Multiple submitters Li-Fraumeni syndrome 1
c.672+2T>G Multiple submitters Li-Fraumeni syndrome
c.673-1G>A Multiple submitters hereditary neoplastic syndrome
c.782+1G>A Multiple submitters Li-Fraumeni syndrome
c.783-2A>C Multiple submitters hereditary neoplastic syndrome
c.920-1G>A Multiple submitters hereditary neoplastic syndrome
c.920-1G>T Multiple submitters hereditary neoplastic syndrome
p.Ala69fs Multiple submitters Li-Fraumeni syndrome
p.Ala88fs Multiple submitters Li-Fraumeni syndrome 1
p.Arg110fs Multiple submitters hereditary neoplastic syndrome
p.Arg158Gly Multiple submitters Li-Fraumeni syndrome
p.Arg196Ter Multiple submitters TP53-related disorder
p.Arg209fs Multiple submitters TP53-related disorder
p.Arg213Ter Multiple submitters TP53-related disorder
p.Arg267Gly Multiple submitters hereditary neoplastic syndrome
p.Arg267Pro Multiple submitters hereditary neoplastic syndrome
p.Arg273Leu Multiple submitters adrenocortical carcinoma, hereditary
p.Arg273Ser Multiple submitters hereditary neoplastic syndrome
p.Arg280fs Multiple submitters hereditary neoplastic syndrome
p.Arg282fs Multiple submitters hereditary neoplastic syndrome
p.Arg282Gly Multiple submitters TP53-related disorder
p.Arg283fs Multiple submitters Li-Fraumeni syndrome
p.Arg306Ter Multiple submitters hereditary neoplastic syndrome
p.Arg333fs Multiple submitters Li-Fraumeni syndrome 1
p.Arg342Ter Multiple submitters adrenocortical carcinoma, hereditary
p.Asn200fs Multiple submitters Li-Fraumeni syndrome 1
p.Asn247Ile Multiple submitters hereditary neoplastic syndrome
p.Asn263fs Multiple submitters Li-Fraumeni syndrome 1
p.Asp228Ter Multiple submitters Li-Fraumeni syndrome 1
p.Asp281Gly Multiple submitters hereditary neoplastic syndrome
p.Asp42_Leu43insTer Multiple submitters Li-Fraumeni syndrome
p.Asp48fs Multiple submitters hereditary neoplastic syndrome
p.Cys124fs Multiple submitters Li-Fraumeni syndrome 1
p.Cys135fs Multiple submitters hereditary neoplastic syndrome
p.Cys141Trp Multiple submitters hereditary neoplastic syndrome
p.Cys176Ter Multiple submitters Li-Fraumeni syndrome 1
p.Cys242fs Multiple submitters hereditary neoplastic syndrome
p.Cys275Phe Multiple submitters hereditary neoplastic syndrome
p.Cys277Ter Multiple submitters hereditary neoplastic syndrome
p.Gln104Ter Multiple submitters hereditary neoplastic syndrome
p.Gln136Ter Multiple submitters Li-Fraumeni syndrome 1
p.Gln144Ter Multiple submitters hereditary neoplastic syndrome
p.Gln165Ter Multiple submitters hereditary neoplastic syndrome
p.Gln16fs Multiple submitters hereditary neoplastic syndrome
p.Gln192Ter Multiple submitters hereditary neoplastic syndrome
p.Gln317fs Multiple submitters Li-Fraumeni syndrome
p.Gln331Ter Multiple submitters hereditary neoplastic syndrome
p.Gln38Ter Multiple submitters Li-Fraumeni syndrome 1
p.Gln52Ter Multiple submitters Li-Fraumeni syndrome 1
p.Glu221Ter Multiple submitters Li-Fraumeni syndrome 1
p.Glu258Ter Multiple submitters hereditary neoplastic syndrome
p.Glu271Ter Multiple submitters Li-Fraumeni syndrome
p.Glu294Ter Multiple submitters hereditary neoplastic syndrome
p.Glu326Ter Multiple submitters hereditary neoplastic syndrome
p.Glu339Ter Multiple submitters Li-Fraumeni syndrome 1
p.Gly244Ser Multiple submitters adrenocortical carcinoma, hereditary
p.Gly245Cys Multiple submitters hereditary neoplastic syndrome
p.Gly245Val Multiple submitters hereditary neoplastic syndrome
p.Gly262fs Multiple submitters hereditary neoplastic syndrome
p.Gly266Arg Multiple submitters hereditary neoplastic syndrome
p.Gly302fs Multiple submitters Li-Fraumeni syndrome
p.His297fs Multiple submitters hereditary neoplastic syndrome
p.Ile195Thr Multiple submitters hereditary neoplastic syndrome
p.Ile50fs Multiple submitters Li-Fraumeni syndrome
p.Leu130fs Multiple submitters Li-Fraumeni syndrome
p.Leu130Pro Multiple submitters hereditary neoplastic syndrome
p.Leu22fs Multiple submitters hereditary neoplastic syndrome
p.Leu257fs Multiple submitters Li-Fraumeni syndrome
p.Leu330fs Multiple submitters hereditary neoplastic syndrome
p.Lys132Ter Multiple submitters hereditary neoplastic syndrome
p.Lys164Ter Multiple submitters Li-Fraumeni syndrome 1
p.Lys320Ter Multiple submitters hereditary neoplastic syndrome
p.Lys351Ter Multiple submitters Li-Fraumeni syndrome 1
p.Met133Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro142fs Multiple submitters Li-Fraumeni syndrome
p.Pro151Ala Multiple submitters hereditary neoplastic syndrome
p.Pro152fs Multiple submitters hereditary neoplastic syndrome
p.Pro222fs Multiple submitters Li-Fraumeni syndrome
p.Pro278Leu Multiple submitters hereditary neoplastic syndrome
p.Pro27fs Multiple submitters hereditary neoplastic syndrome
p.Pro301fs Multiple submitters hereditary neoplastic syndrome
p.Pro36fs Multiple submitters Li-Fraumeni syndrome
p.Pro47fs Multiple submitters Li-Fraumeni syndrome
p.Pro58fs Multiple submitters hereditary neoplastic syndrome
p.Pro85fs Multiple submitters hereditary neoplastic syndrome
p.Ser106fs Multiple submitters hereditary neoplastic syndrome
p.Ser149fs Multiple submitters hereditary neoplastic syndrome
p.Ser183Ter Multiple submitters hereditary neoplastic syndrome
p.Ser215fs Multiple submitters Li-Fraumeni syndrome 1
p.Ser94Ter Multiple submitters Li-Fraumeni syndrome
p.Ser96fs Multiple submitters hereditary neoplastic syndrome
p.Thr125Lys Multiple submitters hereditary neoplastic syndrome
p.Thr170fs Multiple submitters hereditary neoplastic syndrome
p.Thr18fs Multiple submitters hereditary neoplastic syndrome
p.Thr211fs Multiple submitters Li-Fraumeni syndrome 1
p.Thr231fs Multiple submitters Li-Fraumeni syndrome
p.Trp146Ter Multiple submitters hereditary neoplastic syndrome
p.Trp23Ter Multiple submitters Li-Fraumeni syndrome
p.Trp91Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr107Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr126Ter Multiple submitters Li-Fraumeni syndrome
p.Tyr163Ter Multiple submitters Li-Fraumeni syndrome 1
p.Tyr205Cys Multiple submitters hereditary neoplastic syndrome
p.Tyr220Ser Multiple submitters hereditary neoplastic syndrome
p.Tyr234Ter Multiple submitters hereditary neoplastic syndrome
p.Tyr327Ter Multiple submitters Li-Fraumeni syndrome
p.Val217fs Multiple submitters hereditary neoplastic syndrome
p.Val218fs Multiple submitters hereditary neoplastic syndrome
p.Val73fs Multiple submitters TP53-related disorder
c.283_376-269del Single submitter Li-Fraumeni syndrome
c.372_375+13del Single submitter Li-Fraumeni syndrome
c.375+2_375+15del Single submitter Li-Fraumeni syndrome
c.376-196_566del Single submitter Li-Fraumeni syndrome
c.376-1G>C Single submitter Li-Fraumeni syndrome
c.376-5_382del Single submitter Li-Fraumeni syndrome
c.376-70_394delinsG Single submitter Li-Fraumeni syndrome
c.522_559+5del Single submitter Li-Fraumeni syndrome
c.559+1G>C Single submitter hereditary neoplastic syndrome
c.559+2T>A Single submitter Li-Fraumeni syndrome
c.672+2_672+3delinsAA Single submitter hereditary neoplastic syndrome
c.673-1G>T Single submitter Li-Fraumeni syndrome
c.779_782+13del Single submitter TP53-related disorder
c.783-7_794del Single submitter Li-Fraumeni syndrome
c.86_96+4del Single submitter hereditary neoplastic syndrome
c.917_919+15del Single submitter Li-Fraumeni syndrome
c.919+1del Single submitter Li-Fraumeni syndrome
c.920-1G>C Single submitter Li-Fraumeni syndrome
c.96+2T>A Single submitter Li-Fraumeni syndrome
c.97-2A>C Single submitter Li-Fraumeni syndrome 1
c.97-2del Single submitter Li-Fraumeni syndrome 1
c.97-4_104del Single submitter hereditary neoplastic syndrome
c.993+1G>T Single submitter Li-Fraumeni syndrome
c.994-2A>T Single submitter Li-Fraumeni syndrome
c.-21_672+21del Single submitter
c.-28_672dup Single submitter Li-Fraumeni syndrome
p.? Single submitter hereditary neoplastic syndrome
p.Ala119fs Single submitter hereditary neoplastic syndrome
p.Ala159fs Single submitter Li-Fraumeni syndrome
p.Ala189fs Single submitter Li-Fraumeni syndrome 1
p.Ala307fs Single submitter Li-Fraumeni syndrome
p.Ala63fs Single submitter Li-Fraumeni syndrome
p.Ala74fs Single submitter Li-Fraumeni syndrome
p.Ala76fs Single submitter Li-Fraumeni syndrome
p.Ala83fs Single submitter Li-Fraumeni syndrome 1
p.Ala84fs Single submitter Li-Fraumeni syndrome
p.Ala86fs Single submitter Li-Fraumeni syndrome
p.Arg156_Arg158del Single submitter Li-Fraumeni syndrome
p.Arg158_Ala159del Single submitter Li-Fraumeni syndrome
p.Arg158fs Single submitter hereditary neoplastic syndrome
p.Arg158Ser Single submitter Li-Fraumeni syndrome
p.Arg248fs Single submitter Li-Fraumeni syndrome
p.Arg273fs Single submitter Li-Fraumeni syndrome
p.Arg280_Thr284delinsTer Single submitter Li-Fraumeni syndrome 1
p.Arg280del Single submitter Li-Fraumeni syndrome
p.Arg290fs Single submitter Li-Fraumeni syndrome
p.Arg306_Ala307insGluHisTer Single submitter Li-Fraumeni syndrome
p.Arg306fs Single submitter Li-Fraumeni syndrome 1
p.Arg335fs Single submitter hereditary neoplastic syndrome
p.Arg337fs Single submitter Li-Fraumeni syndrome
p.Asn131fs Single submitter Li-Fraumeni syndrome
p.Asn200_Leu206delinsMet Single submitter Li-Fraumeni syndrome
p.Asn210_Arg213del Single submitter esophageal cancer
p.Asn235_Tyr236insTer Single submitter hereditary neoplastic syndrome
p.Asn239_Ser241delinsThr Single submitter Li-Fraumeni syndrome
p.Asn239fs Single submitter hereditary neoplastic syndrome
p.Asn239Ter Single submitter Li-Fraumeni syndrome
p.Asn247_Arg248del Single submitter Li-Fraumeni syndrome
p.Asn268fs Single submitter Li-Fraumeni syndrome
p.Asn29fs Single submitter Li-Fraumeni syndrome 1
p.Asn30fs Single submitter hereditary neoplastic syndrome
p.Asn310fs Single submitter hereditary neoplastic syndrome
p.Asn345fs Single submitter Li-Fraumeni syndrome
p.Asp148fs Single submitter
p.Asp228fs Single submitter Li-Fraumeni syndrome 1
p.Asp281fs Single submitter hereditary neoplastic syndrome
p.Asp41fs Single submitter hereditary neoplastic syndrome
p.Asp42_Met44del Single submitter breast cancer
p.Asp42delinsGlyTer Single submitter hereditary neoplastic syndrome
p.Asp57fs Single submitter hereditary neoplastic syndrome
p.Asp61fs Single submitter Li-Fraumeni syndrome
p.Cys135Ter Single submitter Li-Fraumeni syndrome
p.Cys182delinsTrpTer Single submitter Li-Fraumeni syndrome 1
p.Cys182fs Single submitter hereditary neoplastic syndrome
p.Cys182Ter Single submitter hereditary neoplastic syndrome
p.Cys229fs Single submitter hereditary neoplastic syndrome
p.Cys238_Met243delinsLeu Single submitter Li-Fraumeni syndrome
p.Cys238fs Single submitter head and neck squamous cell carcinoma
p.Cys238Ter Single submitter hereditary neoplastic syndrome
p.Cys242Ter Single submitter Li-Fraumeni syndrome
p.Cys242Trp Single submitter Li-Fraumeni syndrome
p.Cys275fs Single submitter Li-Fraumeni syndrome
p.Cys275Ter Single submitter Li-Fraumeni syndrome 1
p.Cys277fs Single submitter Li-Fraumeni syndrome
p.Gln100fs Single submitter hereditary neoplastic syndrome
p.Gln104fs Single submitter hereditary neoplastic syndrome
p.Gln136fs Single submitter hereditary neoplastic syndrome
p.Gln144del Single submitter colorectal cancer
p.Gln144fs Single submitter hereditary neoplastic syndrome
p.Gln167Ter Single submitter Li-Fraumeni syndrome
p.Gln192_His193del Single submitter Li-Fraumeni syndrome
p.Gln192fs Single submitter hereditary neoplastic syndrome
p.Gln331fs Single submitter Li-Fraumeni syndrome
p.Gln375fs Single submitter
p.Gln38fs Single submitter Li-Fraumeni syndrome
p.Gln52fs Single submitter hereditary neoplastic syndrome
p.Glu171Gly Single submitter hereditary neoplastic syndrome
p.Glu171Ter Single submitter Li-Fraumeni syndrome
p.Glu180fs Single submitter Li-Fraumeni syndrome
p.Glu180Ter Single submitter Li-Fraumeni syndrome 1
p.Glu198fs Single submitter hereditary neoplastic syndrome
p.Glu198Ter Single submitter Li-Fraumeni syndrome
p.Glu221fs Single submitter Li-Fraumeni syndrome
p.Glu224fs Single submitter hereditary neoplastic syndrome
p.Glu285fs Single submitter Li-Fraumeni syndrome 1
p.Glu285Ter Single submitter Li-Fraumeni syndrome
p.Glu285Val Single submitter Li-Fraumeni syndrome
p.Glu286fs Single submitter Li-Fraumeni syndrome
p.Glu286Ter Single submitter Li-Fraumeni syndrome
p.Glu287fs Single submitter Li-Fraumeni syndrome 1
p.Glu294fs Single submitter Li-Fraumeni syndrome
p.Glu298fs Single submitter hereditary neoplastic syndrome
p.Glu336_Arg337del Single submitter hereditary neoplastic syndrome
p.Glu339fs Single submitter Li-Fraumeni syndrome
p.Glu346Ter Single submitter Li-Fraumeni syndrome
p.Glu51Ter Single submitter Li-Fraumeni syndrome
p.Glu62Ter Single submitter hereditary neoplastic syndrome
p.Gly105fs Single submitter Li-Fraumeni syndrome 1
p.Gly108_Arg110delinsIleLeuGlyTyrIle Single submitter hereditary neoplastic syndrome
p.Gly108_His115del Single submitter Li-Fraumeni syndrome
p.Gly108fs Single submitter Li-Fraumeni syndrome
p.Gly199fs Single submitter Li-Fraumeni syndrome
p.Gly244_Arg248del Single submitter hereditary neoplastic syndrome
p.Gly244_Met246del Single submitter Li-Fraumeni syndrome
p.Gly244fs Single submitter Li-Fraumeni syndrome
p.Gly245_Met246insTer Single submitter Li-Fraumeni syndrome
p.Gly266Ter Single submitter hereditary neoplastic syndrome
p.Gly293fs Single submitter Li-Fraumeni syndrome
p.Gly334fs Single submitter Li-Fraumeni syndrome 1
p.His115fs Single submitter hereditary neoplastic syndrome
p.His168Leu Single submitter hereditary neoplastic syndrome
p.His178fs Single submitter Li-Fraumeni syndrome
p.His179_Ser183del Single submitter Li-Fraumeni syndrome
p.His179del Single submitter hereditary neoplastic syndrome
p.His179fs Single submitter Li-Fraumeni syndrome
p.His214fs Single submitter Li-Fraumeni syndrome 1
p.His233_Tyr234insTer Single submitter Li-Fraumeni syndrome
p.His296fs Single submitter Li-Fraumeni syndrome
p.Ile162fs Single submitter hereditary neoplastic syndrome
p.Ile232fs Single submitter Li-Fraumeni syndrome
p.Ile232Ser Single submitter hereditary neoplastic syndrome
p.Ile251fs Single submitter hereditary neoplastic syndrome

Pathogenic/Likely pathogenic 184

c.1101-2A>G Multiple submitters hereditary neoplastic syndrome
c.375+1dup Multiple submitters Li-Fraumeni syndrome 1
c.375+1G>A Multiple submitters Li-Fraumeni syndrome 1
c.375+1G>C Multiple submitters hereditary neoplastic syndrome
c.375+1G>T Multiple submitters Li-Fraumeni syndrome
c.375+2T>A Multiple submitters hereditary neoplastic syndrome
c.375+2T>C Multiple submitters hereditary neoplastic syndrome
c.375+2T>G Multiple submitters hereditary neoplastic syndrome
c.376-1G>A Multiple submitters hereditary neoplastic syndrome
c.376-2A>G Multiple submitters hereditary neoplastic syndrome
c.376-2A>T Multiple submitters Li-Fraumeni syndrome
c.559+1G>A Multiple submitters nasopharyngeal carcinoma
c.559+1G>T Multiple submitters hereditary neoplastic syndrome
c.560-19_560-9del Multiple submitters Li-Fraumeni syndrome
c.672+1G>A Multiple submitters hereditary neoplastic syndrome
c.672+1G>C Multiple submitters hereditary neoplastic syndrome
c.672+1G>T Multiple submitters hereditary neoplastic syndrome
c.672+2T>A Multiple submitters hereditary neoplastic syndrome
c.672+2T>C Multiple submitters hereditary neoplastic syndrome
c.673-1G>C Multiple submitters Li-Fraumeni syndrome
c.673-2A>G Multiple submitters hereditary neoplastic syndrome
c.673-2A>T Multiple submitters hereditary neoplastic syndrome
c.782+1G>T Multiple submitters Li-Fraumeni syndrome
c.783-1G>A Multiple submitters hereditary breast carcinoma
c.783-1G>T Multiple submitters hereditary neoplastic syndrome
c.783-2A>G Multiple submitters hereditary neoplastic syndrome
c.917_919+10del Multiple submitters hereditary neoplastic syndrome
c.917_919+6del Multiple submitters Li-Fraumeni syndrome
c.919+2T>G Multiple submitters hereditary neoplastic syndrome
c.920-2A>G Multiple submitters Breast and/or ovarian cancer
c.96+1G>A Multiple submitters hereditary neoplastic syndrome
c.96+1G>C Multiple submitters hereditary neoplastic syndrome
c.96+1G>T Multiple submitters adrenocortical carcinoma, hereditary
c.97-1_102dup Multiple submitters Li-Fraumeni syndrome
c.97-11C>G Multiple submitters adrenocortical carcinoma, hereditary
c.97-1G>T Multiple submitters Li-Fraumeni syndrome
c.97-2A>G Multiple submitters Li-Fraumeni syndrome 1
c.993+1G>A Multiple submitters Li-Fraumeni syndrome 1
c.993+1G>C Multiple submitters hereditary neoplastic syndrome
c.993+2T>C Multiple submitters Li-Fraumeni syndrome
c.994-1G>A Multiple submitters hereditary neoplastic syndrome
c.994-1G>C Multiple submitters hereditary neoplastic syndrome
c.994-2A>G Multiple submitters hereditary neoplastic syndrome
p.Ala159Asp Multiple submitters Li-Fraumeni syndrome 1
p.Ala159Val Multiple submitters hereditary neoplastic syndrome
p.Ala161Thr Multiple submitters hereditary neoplastic syndrome
p.Ala276Gly Multiple submitters hereditary neoplastic syndrome
p.Ala307_Leu308insAlaProArgGluHisTer Multiple submitters hereditary neoplastic syndrome
p.Arg156Pro Multiple submitters Li-Fraumeni syndrome
p.Arg158His Multiple submitters adrenocortical carcinoma, hereditary
p.Arg181His Multiple submitters TP53-related disorder ⚠
p.Arg181Pro Multiple submitters hereditary neoplastic syndrome
p.Arg196Pro Multiple submitters Li-Fraumeni syndrome
p.Arg213Gln Multiple submitters TP53-related disorder
p.Arg213Pro Multiple submitters hereditary neoplastic syndrome
p.Arg213Trp Multiple submitters hereditary neoplastic syndrome
p.Arg248Gly Multiple submitters hereditary neoplastic syndrome
p.Arg248Pro Multiple submitters hereditary neoplastic syndrome
p.Arg249Ser Multiple submitters TP53-related disorder
p.Arg249Thr Multiple submitters hereditary neoplastic syndrome
p.Arg267Trp Multiple submitters TP53-related disorder
p.Arg273Cys Multiple submitters TP53-related disorder
p.Arg273Gly Multiple submitters adrenocortical carcinoma, hereditary
p.Arg273Pro Multiple submitters hereditary neoplastic syndrome
p.Arg280Ser Multiple submitters hereditary neoplastic syndrome
p.Arg280Ter Multiple submitters Li-Fraumeni syndrome
p.Arg280Thr Multiple submitters hereditary neoplastic syndrome
p.Arg282Pro Multiple submitters nasopharyngeal carcinoma
p.Arg282Trp Multiple submitters diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
p.Arg342fs Multiple submitters hereditary neoplastic syndrome
p.Asn131Ile Multiple submitters hereditary neoplastic syndrome
p.Asn239Ser Multiple submitters hereditary neoplastic syndrome
p.Asn288fs Multiple submitters Li-Fraumeni syndrome
p.Asn311fs Multiple submitters hereditary neoplastic syndrome
p.Asp281Ala Multiple submitters hereditary neoplastic syndrome
p.Asp281Asn Multiple submitters hereditary neoplastic syndrome
p.Asp281Glu Multiple submitters hereditary neoplastic syndrome
p.Asp281His Multiple submitters hereditary neoplastic syndrome
p.Asp281Tyr Multiple submitters hereditary neoplastic syndrome
p.Asp281Val Multiple submitters adrenocortical carcinoma, hereditary
p.Cys135Arg Multiple submitters Li-Fraumeni syndrome 1
p.Cys135Phe Multiple submitters hereditary neoplastic syndrome
p.Cys141Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys176Phe Multiple submitters hereditary neoplastic syndrome
p.Cys176Tyr Multiple submitters TP53-related disorder
p.Cys238Arg Multiple submitters hereditary neoplastic syndrome
p.Cys238Gly Multiple submitters hereditary neoplastic syndrome
p.Cys238Phe Multiple submitters hereditary neoplastic syndrome
p.Cys238Ser Multiple submitters hereditary neoplastic syndrome
p.Cys238Trp Multiple submitters hereditary neoplastic syndrome
p.Cys238Tyr Multiple submitters TP53-related disorder
p.Cys242Tyr Multiple submitters hereditary neoplastic syndrome
p.Cys275Tyr Multiple submitters TP53-related disorder
p.Gln100Ter Multiple submitters Li-Fraumeni syndrome 1
p.Gln317Ter Multiple submitters hereditary neoplastic syndrome
p.Gln331= Multiple submitters hereditary neoplastic syndrome
p.Gln354Ter Multiple submitters Li-Fraumeni syndrome 1
p.Glu224= Multiple submitters Li-Fraumeni syndrome 1
p.Glu258Lys Multiple submitters hereditary neoplastic syndrome
p.Glu285Lys Multiple submitters hereditary neoplastic syndrome
p.Glu286Lys Multiple submitters hereditary neoplastic syndrome
p.Glu343fs Multiple submitters hereditary neoplastic syndrome
p.Glu349Ter Multiple submitters Li-Fraumeni syndrome
p.Glu68Ter Multiple submitters hereditary neoplastic syndrome
p.Gly105Arg Multiple submitters hereditary neoplastic syndrome
p.Gly108_Phe113del Multiple submitters Li-Fraumeni syndrome 1
p.Gly154fs Multiple submitters Li-Fraumeni syndrome 1
p.Gly244Ala Multiple submitters Li-Fraumeni syndrome 1
p.Gly244Asp Multiple submitters hereditary neoplastic syndrome
p.Gly245Asp Multiple submitters hereditary neoplastic syndrome
p.Gly266Glu Multiple submitters hereditary neoplastic syndrome
p.Gly325Ter Multiple submitters hereditary neoplastic syndrome
p.His178Gln Multiple submitters Li-Fraumeni syndrome
p.His179Arg Multiple submitters Li-Fraumeni syndrome 1
p.His179Asp Multiple submitters hereditary neoplastic syndrome
p.His179Gln Multiple submitters hereditary neoplastic syndrome
p.His179Tyr Multiple submitters hereditary neoplastic syndrome
p.His193Arg Multiple submitters hereditary neoplastic syndrome
p.His193Asn Multiple submitters Li-Fraumeni syndrome
p.His193Tyr Multiple submitters TP53-related disorder
p.Ile232Asn Multiple submitters Li-Fraumeni syndrome
p.Ile232Thr Multiple submitters hereditary neoplastic syndrome
p.Ile251Leu Multiple submitters gastric cancer
p.Ile251Phe Multiple submitters Li-Fraumeni syndrome
p.Ile254_Thr256del Multiple submitters Li-Fraumeni syndrome 1
p.Ile255del Multiple submitters hereditary neoplastic syndrome
p.Leu137_Lys139del Multiple submitters Li-Fraumeni syndrome
p.Leu194His Multiple submitters hereditary neoplastic syndrome
p.Leu194Phe Multiple submitters hereditary neoplastic syndrome
p.Leu265Gln Multiple submitters Li-Fraumeni syndrome
p.Leu265Pro Multiple submitters hereditary neoplastic syndrome
p.Leu35fs Multiple submitters Li-Fraumeni syndrome
p.Lys132Arg Multiple submitters hereditary breast carcinoma
p.Met237Lys Multiple submitters Li-Fraumeni syndrome 1
p.Met246Val Multiple submitters hereditary neoplastic syndrome
p.Phe113Ser Multiple submitters hereditary neoplastic syndrome
p.Pro151Arg Multiple submitters hereditary neoplastic syndrome
p.Pro151Ser Multiple submitters hereditary neoplastic syndrome
p.Pro151Thr Multiple submitters hereditary neoplastic syndrome
p.Pro152Arg Multiple submitters hereditary neoplastic syndrome
p.Pro177Arg Multiple submitters Li-Fraumeni syndrome 1
p.Pro191del Multiple submitters Li-Fraumeni syndrome
p.Pro250Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro278Ser Multiple submitters hereditary neoplastic syndrome
p.Pro278Thr Multiple submitters hereditary neoplastic syndrome
p.Ser127Phe Multiple submitters hereditary neoplastic syndrome
p.Ser240Gly Multiple submitters Li-Fraumeni syndrome 1
p.Ser241Ala Multiple submitters hereditary neoplastic syndrome
p.Ser241Cys Multiple submitters hereditary neoplastic syndrome
p.Ser241Phe Multiple submitters Li-Fraumeni syndrome
p.Ser241Thr Multiple submitters Li-Fraumeni syndrome
p.Ser241Tyr Multiple submitters hereditary neoplastic syndrome
p.Ser362fs Multiple submitters bone marrow failure syndrome 5
p.Thr123_Cys124insTer Multiple submitters Li-Fraumeni syndrome
p.Thr125= Multiple submitters TP53-related disorder
p.Thr125Arg Multiple submitters Li-Fraumeni syndrome
p.Thr150_Pro153del Multiple submitters Li-Fraumeni syndrome 1
p.Thr155Asn Multiple submitters Li-Fraumeni syndrome
p.Thr170_Val173del Multiple submitters Li-Fraumeni syndrome
p.Thr253Ala Multiple submitters Li-Fraumeni syndrome
p.Thr81fs Multiple submitters Li-Fraumeni syndrome
p.Tyr103fs Multiple submitters Li-Fraumeni syndrome
p.Tyr126Asp Multiple submitters hereditary neoplastic syndrome
p.Tyr205Asp Multiple submitters hereditary neoplastic syndrome
p.Tyr205His Multiple submitters hereditary neoplastic syndrome
p.Tyr220His Multiple submitters hereditary neoplastic syndrome
p.Tyr220Ter Multiple submitters Li-Fraumeni syndrome
p.Tyr234Asn Multiple submitters hereditary neoplastic syndrome
p.Tyr234Asp Multiple submitters hereditary neoplastic syndrome
p.Tyr234Cys Multiple submitters hereditary neoplastic syndrome
p.Tyr234His Multiple submitters hereditary neoplastic syndrome
p.Tyr236Cys Multiple submitters hereditary neoplastic syndrome
p.Tyr236His Multiple submitters hereditary neoplastic syndrome
p.Val122fs Multiple submitters Li-Fraumeni syndrome
p.Val143Gly Multiple submitters hereditary neoplastic syndrome
p.Val143Met Multiple submitters adrenocortical carcinoma, hereditary
p.Val147Gly Multiple submitters hereditary neoplastic syndrome
p.Val157Phe Multiple submitters squamous cell carcinoma
p.Val173Ala Multiple submitters hereditary neoplastic syndrome
p.Val216Met Multiple submitters hereditary neoplastic syndrome
p.Val218del Multiple submitters hereditary neoplastic syndrome
p.Val272Leu Multiple submitters hereditary neoplastic syndrome
c.-29+4088_994-91del No assertion criteria TP53-related disorder
p.Ser227fs No assertion criteria ovarian neoplasm

Likely pathogenic 171

c.375+5G>A Expert panel Li-Fraumeni syndrome
c.993+1del Expert panel Li-Fraumeni syndrome
p.Ala138Pro Expert panel Li-Fraumeni syndrome
p.Ala138Val Expert panel Li-Fraumeni syndrome
p.Ala161_Tyr163delinsAsp Expert panel Li-Fraumeni syndrome
p.Arg110Gly Expert panel Li-Fraumeni syndrome ⚠
p.Arg175Leu Expert panel Li-Fraumeni syndrome
p.Arg181Cys Expert panel Li-Fraumeni syndrome ⚠
p.Arg337Gly Expert panel Li-Fraumeni syndrome
p.Arg337Leu Expert panel Li-Fraumeni syndrome ⚠
p.Arg337Pro Expert panel Li-Fraumeni syndrome
p.Arg337Ser Expert panel Li-Fraumeni syndrome
p.Cys277Gly Expert panel Li-Fraumeni syndrome
p.Glu180Lys Expert panel Li-Fraumeni syndrome
p.Gly105Asp Expert panel Li-Fraumeni syndrome
p.Gly108_Leu111delinsIleGln Expert panel Li-Fraumeni syndrome
p.His214Leu Expert panel Li-Fraumeni syndrome ⚠
p.Leu344Arg Expert panel Li-Fraumeni syndrome
p.Leu344Pro Expert panel Li-Fraumeni syndrome
p.Lys382fs Expert panel Li-Fraumeni syndrome
p.Phe113Ile Expert panel Li-Fraumeni syndrome
p.Phe113Val Expert panel Li-Fraumeni syndrome
p.Ser127Cys Expert panel Li-Fraumeni syndrome
p.Ser127Pro Expert panel Li-Fraumeni syndrome
p.Ser127Thr Expert panel Li-Fraumeni syndrome
p.Ter394LeuextTer? Expert panel Li-Fraumeni syndrome
p.Val197Met Expert panel Li-Fraumeni syndrome
c.283_375+21del Multiple submitters hereditary neoplastic syndrome
c.75-2A>G Multiple submitters Li-Fraumeni syndrome 1
c.919+1G>C Multiple submitters Li-Fraumeni syndrome 1
c.920-2del Multiple submitters hereditary neoplastic syndrome
c.993+2T>G Multiple submitters hereditary breast carcinoma
p.Arg110_Phe113del Multiple submitters hereditary neoplastic syndrome
p.Glu271Val Multiple submitters Li-Fraumeni syndrome
p.Gly334Trp Multiple submitters hereditary neoplastic syndrome
p.Leu265del Multiple submitters hereditary neoplastic syndrome
p.Met246Lys Multiple submitters hereditary neoplastic syndrome
p.Phe109Ile Multiple submitters Li-Fraumeni syndrome
p.Phe134Cys Multiple submitters hereditary neoplastic syndrome
p.Val218Glu Multiple submitters hereditary neoplastic syndrome
c.1096_1100+9del Single submitter Li-Fraumeni syndrome 1
c.1100+1G>C Single submitter bone marrow failure syndrome 5
c.1100+1G>T Single submitter Li-Fraumeni syndrome 1
c.1100+2T>A Single submitter Li-Fraumeni syndrome
c.1101-2_1101-1inv Single submitter Li-Fraumeni syndrome 1
c.375_375+1dup Single submitter Li-Fraumeni syndrome 1
c.376-1_381delinsT Single submitter Li-Fraumeni syndrome 1
c.376-11_377del Single submitter Li-Fraumeni syndrome 1
c.376-2_377dup Single submitter hereditary neoplastic syndrome
c.376-2del Single submitter hereditary neoplastic syndrome
c.376-3_376-1del Single submitter Li-Fraumeni syndrome
c.376-6_376del Single submitter Li-Fraumeni syndrome 1
c.541_559+1del Single submitter hereditary neoplastic syndrome
c.557_559+2delinsGGGG Single submitter
c.559_559+6del Single submitter hereditary neoplastic syndrome
c.559+2_559+3delinsGT Single submitter hereditary neoplastic syndrome
c.559+2del Single submitter
c.560-15_560-5del Single submitter Li-Fraumeni syndrome
c.560-1G>T Single submitter Li-Fraumeni syndrome 1
c.560-22_560del Single submitter Li-Fraumeni syndrome 1
c.560-28_560-1del Single submitter
c.560-2A>G Single submitter Li-Fraumeni syndrome 1
c.560-4_560-2del Single submitter Li-Fraumeni syndrome
c.672_672+6del Single submitter hereditary neoplastic syndrome
c.673-39G>A Single submitter Li-Fraumeni syndrome
c.673-96_673del Single submitter hereditary neoplastic syndrome
c.75-1G>A Single submitter Li-Fraumeni syndrome
c.75-7_82delinsA Single submitter adrenocortical carcinoma, hereditary
c.780_782+3del Single submitter Li-Fraumeni syndrome
c.781_782+8del Single submitter hereditary neoplastic syndrome
c.782+1G>C Single submitter Li-Fraumeni syndrome 1
c.782+2_782+6del Single submitter Li-Fraumeni syndrome
c.782+2_782+8del Single submitter hereditary neoplastic syndrome
c.782+2T>A Single submitter hereditary neoplastic syndrome
c.782+2T>C Single submitter Li-Fraumeni syndrome 1
c.782+2T>G Single submitter hereditary neoplastic syndrome
c.783-1G>C Single submitter Li-Fraumeni syndrome 1
c.783-2A>T Single submitter hereditary neoplastic syndrome
c.783-4_792del Single submitter hereditary neoplastic syndrome
c.783-4_803delinsC Single submitter Li-Fraumeni syndrome 1
c.783-8_784del Single submitter Li-Fraumeni syndrome 1
c.88_96+1dup Single submitter Li-Fraumeni syndrome
c.917_919+5delinsAGGA Single submitter adrenocortical carcinoma, hereditary
c.919+15_919+17delinsTGGAAACGAATGGAATCATCATCGAATGGAAATGAAAGGAGTCATCATCTAATGGAATTGCATGGAATCATCATAAAATGGAATCGAATGGAATCAACATCAAATGGAATCAAATGGAATCATTGAACGGAATTGAATGGAATCGTCATCGAATGAATTGACTGCAATCATCGAATGGTCTCGAATGGAATCATCTTCAAATGGAATGGAATGGAATCATCGCATAGAATCGAATGGAATTATCATCGAATGGAATCGAATGGAATCAACATCAAACGGAAAAAAACGGAATTATCGAATGGAATCGAAGAGAATCATC Single submitter Li-Fraumeni syndrome
c.919+1G>T Single submitter Li-Fraumeni syndrome 1
c.919+2T>A Single submitter hereditary breast ovarian cancer syndrome
c.920-2A>C Single submitter Li-Fraumeni syndrome 1
c.920-2A>T Single submitter hereditary neoplastic syndrome
c.920-3_920-1delinsACTGCCTCTTTCCACTTGCACCTTTC Single submitter Li-Fraumeni syndrome 1
c.920-3_923del Single submitter Li-Fraumeni syndrome
c.920-4_920del Single submitter Li-Fraumeni syndrome
c.96+1del Single submitter Li-Fraumeni syndrome
c.96+2dup Single submitter hereditary neoplastic syndrome
c.96+2T>G Single submitter hereditary neoplastic syndrome
c.96+34_184del Single submitter Li-Fraumeni syndrome
c.97-5_98del Single submitter Li-Fraumeni syndrome
c.97-6_129del Single submitter hereditary neoplastic syndrome
c.979_993+7del Single submitter Li-Fraumeni syndrome
c.987_993+2delinsTA Single submitter hereditary neoplastic syndrome
c.994-3_1000del Single submitter Li-Fraumeni syndrome
p.Ala189_Leu194del Single submitter Li-Fraumeni syndrome 1
p.Ala276_Thr284del Single submitter Li-Fraumeni syndrome 1
p.Ala347fs Single submitter hereditary breast ovarian cancer syndrome
p.Arg158_Tyr163del Single submitter hereditary neoplastic syndrome
p.Arg196fs Single submitter hereditary neoplastic syndrome
p.Arg213_Tyr220del Single submitter Li-Fraumeni syndrome 1
p.Arg280_Arg283delinsHis Single submitter hereditary neoplastic syndrome
p.Arg335_Glu336insGlyArg Single submitter Li-Fraumeni syndrome
p.Asn131His Single submitter breast-ovarian cancer, familial, susceptibility to, 1 ⚠
p.Asn239_Gly245del Single submitter hereditary neoplastic syndrome
p.Asn268_Arg273del Single submitter hereditary neoplastic syndrome
p.Asp281_Arg283del Single submitter hereditary neoplastic syndrome
p.Asp352fs Single submitter Li-Fraumeni syndrome
p.Asp391delinsAlaTer Single submitter Li-Fraumeni syndrome 1
p.Cys124Arg Single submitter Li-Fraumeni syndrome ⚠
p.Cys141_Gln144del Single submitter
p.Gln192_Leu194del Single submitter hereditary neoplastic syndrome
p.Glu286Ala Single submitter Li-Fraumeni syndrome 1
p.Glu336Ter Single submitter Li-Fraumeni syndrome
p.Glu349fs Single submitter Li-Fraumeni syndrome
p.Glu56Ter Single submitter Breast and/or ovarian cancer
p.Gly105_Lys120dup Single submitter Li-Fraumeni syndrome
p.Gly199Val Single submitter
p.Gly244Val Single submitter Li-Fraumeni syndrome 1
p.His168Pro Single submitter hereditary neoplastic syndrome
p.His179_Arg181del Single submitter hereditary neoplastic syndrome
p.His193fs Single submitter
p.Ile332Asn Single submitter hereditary neoplastic syndrome
p.Ile332fs Single submitter Li-Fraumeni syndrome
p.Leu114fs Single submitter
p.Leu257_Glu258delinsGln Single submitter Li-Fraumeni syndrome 1
p.Leu348fs Single submitter Li-Fraumeni syndrome
p.Leu43Ter Single submitter
p.Lys291fs Single submitter Li-Fraumeni syndrome
p.Lys351fs Single submitter Li-Fraumeni syndrome
p.Met133fs Single submitter Li-Fraumeni syndrome 1
p.Met237_Cys238insTer Single submitter
p.Met246Ile Single submitter hereditary neoplastic syndrome
p.Met44fs Single submitter
p.Phe109_Arg110del Single submitter Li-Fraumeni syndrome 1
p.Phe109Cys Single submitter Li-Fraumeni syndrome 1
p.Phe341Ser Single submitter hereditary neoplastic syndrome
p.Pro151Phe Single submitter hereditary neoplastic syndrome
p.Pro153_Thr155del Single submitter hereditary neoplastic syndrome
p.Ser106_Gly112del Single submitter Li-Fraumeni syndrome 1
p.Ser240_Ser241insTer Single submitter TP53-related disorder
p.Ser240Cys Single submitter hereditary neoplastic syndrome
p.Thr150_Pro151del Single submitter hereditary neoplastic syndrome
p.Trp146_Pro152del Single submitter hereditary neoplastic syndrome
p.Tyr107fs Single submitter Li-Fraumeni syndrome 1
p.Tyr205_Leu206del Single submitter Li-Fraumeni syndrome 1
p.Tyr220_Pro222del Single submitter hereditary neoplastic syndrome
p.Tyr234del Single submitter hereditary neoplastic syndrome
p.Val157_Arg158del Single submitter Li-Fraumeni syndrome 1
p.Val157Gly Single submitter Li-Fraumeni syndrome 1
p.Val216_Glu221del Single submitter TP53-related disorder
p.Val217_Pro222delinsSer Single submitter hereditary neoplastic syndrome
c.727_782+21dup No assertion criteria ovarian neoplasm
c.994-22_1003del No assertion criteria ovarian neoplasm
p.Ala39fs No assertion criteria
p.Arg282_His296del No assertion criteria ovarian neoplasm
p.Asp148_Pro153dup No assertion criteria ovarian neoplasm
p.Asp324fs No assertion criteria
p.Cys238_Met246del No assertion criteria ovarian neoplasm
p.Glu326Val No assertion criteria acute myeloid leukemia
p.Gly199_Glu204del No assertion criteria Small cell carcinoma of the ovary, hypercalcemic type
p.His296Arg No assertion criteria ⚠
p.Ser241del No assertion criteria adrenal cortex carcinoma
p.Ser269Ile No assertion criteria acute myeloid leukemia
p.Trp91fs No assertion criteria TP53-related disorder
p.Val157fs No assertion criteria

Conflicting classifications of pathogenicity 499

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

c.1100+13A>G Single submitter hereditary neoplastic syndrome
c.1101-1G>A Single submitter familial pancreatic carcinoma ⚠
c.1101-3C>T Single submitter hereditary neoplastic syndrome
c.375+5G>C Single submitter Li-Fraumeni syndrome
c.376-2dup Single submitter Li-Fraumeni syndrome 1 ⚠
c.376-4A>T Single submitter Li-Fraumeni syndrome
c.376-5T>G Single submitter Li-Fraumeni syndrome
c.376-9T>A Single submitter Li-Fraumeni syndrome
c.559+8G>A Single submitter Li-Fraumeni syndrome 1
c.560-11_560-8del Single submitter Li-Fraumeni syndrome 1
c.560-12G>A Single submitter hereditary neoplastic syndrome
c.560-3T>C Single submitter Li-Fraumeni syndrome
c.560-9T>A Single submitter hereditary neoplastic syndrome
c.672+6_672+8delinsTTG Single submitter Li-Fraumeni syndrome 1
c.672+6G>T Single submitter Breast and/or ovarian cancer
c.672+8T>G Single submitter Breast and/or ovarian cancer
c.673-37C>T Single submitter hereditary neoplastic syndrome
c.673-3T>C Single submitter hereditary neoplastic syndrome
c.673-4C>G Single submitter hereditary neoplastic syndrome
c.673-9del Single submitter hereditary breast carcinoma
c.74+3G>A Single submitter hereditary neoplastic syndrome
c.74+9A>C Single submitter Breast and/or ovarian cancer
c.75-8T>C Single submitter Li-Fraumeni syndrome 1
c.782+12C>T Single submitter hereditary neoplastic syndrome
c.782+3C>T Single submitter Li-Fraumeni syndrome
c.782+6G>A Single submitter hereditary neoplastic syndrome
c.783-10T>C Single submitter Li-Fraumeni syndrome
c.783-16_783-15del Single submitter hereditary neoplastic syndrome
c.783-4G>A Single submitter hereditary neoplastic syndrome
c.919+10C>G Single submitter Li-Fraumeni syndrome
c.919+3A>G Single submitter hereditary neoplastic syndrome
c.919+5G>C Single submitter hereditary neoplastic syndrome
c.920-14_920-3del Single submitter Li-Fraumeni syndrome
c.920-17C>A Single submitter Li-Fraumeni syndrome
c.920-3T>C Single submitter hereditary neoplastic syndrome
c.920-5C>A Single submitter hereditary neoplastic syndrome
c.920-5C>T Single submitter hereditary neoplastic syndrome
c.920-9C>T Single submitter hereditary neoplastic syndrome
c.96+12G>C Single submitter Li-Fraumeni syndrome
c.96+15T>C Single submitter Li-Fraumeni syndrome 1
c.96+6G>A Single submitter Li-Fraumeni syndrome
c.993+227A>C Single submitter Li-Fraumeni syndrome 1
c.993+309C>T Single submitter hereditary neoplastic syndrome
c.993+313G>A Single submitter Li-Fraumeni syndrome 1
c.993+326_993+341del Single submitter hereditary neoplastic syndrome
c.993+4C>T Single submitter hereditary neoplastic syndrome
c.993+5T>G Single submitter hereditary neoplastic syndrome
c.993+8G>A Single submitter Li-Fraumeni syndrome
c.-11G>A Single submitter hereditary neoplastic syndrome
c.-12C>T Single submitter hereditary neoplastic syndrome
c.*1132C>T Single submitter Li-Fraumeni syndrome 1
c.*6_*9dup Single submitter Li-Fraumeni syndrome 1
c.*8C>T Single submitter Li-Fraumeni syndrome 1
p.Ala119Gly Single submitter Li-Fraumeni syndrome ⚠
p.Ala129Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala129Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala159Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala159Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala161Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala189Val Single submitter Li-Fraumeni syndrome 1 ⚠
p.Ala276Asp Single submitter hereditary neoplastic syndrome ⚠
p.Ala276Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ala307Thr Single submitter Li-Fraumeni syndrome ⚠
p.Ala307Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala355Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala355Ser Single submitter hereditary breast carcinoma ⚠
p.Ala355Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala355Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala364Ser Single submitter Li-Fraumeni syndrome ⚠
p.Ala39Val Single submitter Li-Fraumeni syndrome ⚠
p.Ala69Thr Single submitter hereditary breast carcinoma ⚠
p.Ala69Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala74Gly Single submitter Li-Fraumeni syndrome ⚠
p.Ala76Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala78Gly Single submitter hereditary neoplastic syndrome ⚠
p.Ala78Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala83Glu Single submitter hereditary neoplastic syndrome ⚠
p.Ala84Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala86Pro Single submitter Li-Fraumeni syndrome ⚠
p.Ala86Thr Single submitter adrenocortical carcinoma, hereditary ⚠
p.Ala86Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala88Thr Single submitter Li-Fraumeni syndrome ⚠
p.Ala88Val Single submitter hereditary neoplastic syndrome ⚠
p.Arg156Cys Single submitter glioma susceptibility 1 ⚠
p.Arg156Gly Single submitter Li-Fraumeni syndrome ⚠
p.Arg174Lys Single submitter Li-Fraumeni syndrome ⚠
p.Arg175Ser Single submitter hereditary neoplastic syndrome ⚠
p.Arg181Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg196Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg196Leu Single submitter adrenocortical carcinoma, hereditary ⚠
p.Arg202Cys Single submitter adrenocortical carcinoma, hereditary ⚠
p.Arg202Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg202His Single submitter hereditary neoplastic syndrome ⚠
p.Arg209Gly Single submitter Li-Fraumeni syndrome 1 ⚠
p.Arg209Ser Single submitter adrenocortical carcinoma, hereditary ⚠
p.Arg213Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg213Leu Single submitter hereditary neoplastic syndrome ⚠
p.Arg249_Pro250delinsSerThr Single submitter Li-Fraumeni syndrome
p.Arg249Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg249Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg249Met Single submitter hereditary neoplastic syndrome ⚠
p.Arg249Trp Single submitter hereditary neoplastic syndrome ⚠
p.Arg273= Single submitter Li-Fraumeni syndrome
p.Arg280Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg280Ile Single submitter hereditary neoplastic syndrome ⚠
p.Arg280Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg282Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg290Gly Single submitter Li-Fraumeni syndrome ⚠
p.Arg306= Single submitter hereditary neoplastic syndrome
p.Arg306Gln Single submitter Li-Fraumeni syndrome 1 ⚠
p.Arg335His Single submitter hereditary neoplastic syndrome ⚠
p.Arg363Gly Single submitter hereditary neoplastic syndrome ⚠
p.Arg379Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg65Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asn131del Single submitter hereditary neoplastic syndrome
p.Asn131Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asn235_Tyr236del Single submitter hereditary neoplastic syndrome
p.Asn235Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn239Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn239Ile Single submitter Li-Fraumeni syndrome ⚠
p.Asn239Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn239Thr Single submitter hereditary neoplastic syndrome ⚠
p.Asn247Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn263Asp Single submitter Hereditary cancer ⚠
p.Asn268Lys Single submitter hereditary neoplastic syndrome
p.Asn310Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn310Lys Single submitter Li-Fraumeni syndrome 1 ⚠
p.Asn311His Single submitter hereditary neoplastic syndrome ⚠
p.Asn311Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp148Ala Single submitter hereditary neoplastic syndrome ⚠
p.Asp148Tyr Single submitter Li-Fraumeni syndrome ⚠
p.Asp207Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp208Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp208Tyr Single submitter lung adenocarcinoma ⚠
p.Asp208Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp21Glu Single submitter Li-Fraumeni syndrome ⚠
p.Asp228Glu Single submitter Li-Fraumeni syndrome 1 ⚠
p.Asp259Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp324His Single submitter hereditary neoplastic syndrome ⚠
p.Asp352Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp352Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp391Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp393Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp393Glu Single submitter Li-Fraumeni syndrome ⚠
p.Asp393His Single submitter hereditary neoplastic syndrome ⚠
p.Asp41Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp41Gly Single submitter Li-Fraumeni syndrome ⚠
p.Asp42Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp42Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp49Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp57Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp61Gly Single submitter hereditary neoplastic syndrome ⚠
p.Asp61Val Single submitter hereditary neoplastic syndrome ⚠
p.Asp7His Single submitter hereditary neoplastic syndrome ⚠
p.Cys135Ser Single submitter hereditary neoplastic syndrome ⚠
p.Cys135Trp Single submitter hereditary neoplastic syndrome ⚠
p.Cys135Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys141Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys141Phe Single submitter Li-Fraumeni syndrome ⚠
p.Cys176Arg Single submitter breast neoplasm ⚠
p.Cys176Gly Single submitter hereditary neoplastic syndrome ⚠
p.Cys176Ser Single submitter hereditary neoplastic syndrome ⚠
p.Cys176Trp Single submitter TP53-related disorder ⚠
p.Cys229Arg Single submitter Li-Fraumeni syndrome ⚠
p.Cys229Ser Single submitter hereditary neoplastic syndrome ⚠
p.Cys229Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Cys242Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys242Gly Single submitter hereditary neoplastic syndrome ⚠
p.Cys242Phe Single submitter hereditary neoplastic syndrome ⚠
p.Cys275Arg Single submitter hereditary neoplastic syndrome ⚠
p.Cys275Gly Single submitter hereditary neoplastic syndrome ⚠
p.Cys275Ser Single submitter hereditary neoplastic syndrome ⚠
p.Cys275Trp Single submitter hereditary neoplastic syndrome ⚠
p.Cys277Phe Single submitter TP53-related disorder ⚠
p.Cys277Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Gln104Leu Single submitter hereditary neoplastic syndrome ⚠
p.Gln136Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln136Pro Single submitter hereditary neoplastic syndrome ⚠
p.Gln144Pro Single submitter hereditary neoplastic syndrome ⚠
p.Gln165Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln165Lys Single submitter Li-Fraumeni syndrome ⚠
p.Gln16Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln192Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln192Pro Single submitter hereditary neoplastic syndrome ⚠
p.Gln317Arg Single submitter Li-Fraumeni syndrome ⚠
p.Gln317His Single submitter hereditary neoplastic syndrome ⚠
p.Gln331Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln331Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gln354Arg Single submitter Li-Fraumeni syndrome ⚠
p.Gln5Arg Single submitter Li-Fraumeni syndrome 1 ⚠
p.Glu11Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu11Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu221= Single submitter Li-Fraumeni syndrome 1
p.Glu258Asp Single submitter Li-Fraumeni syndrome 1 ⚠
p.Glu258Gly Single submitter bone osteosarcoma ⚠
p.Glu258Val Single submitter hereditary neoplastic syndrome ⚠
p.Glu271Lys Single submitter diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype ⚠
p.Glu286Gln Single submitter Li-Fraumeni syndrome ⚠
p.Glu286Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu287Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu287Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu28Val Single submitter hereditary neoplastic syndrome ⚠
p.Glu294Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu298Gln Single submitter Li-Fraumeni syndrome ⚠
p.Glu2Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu336Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu339Gly Single submitter Li-Fraumeni syndrome 1 ⚠
p.Glu339Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu339Val Single submitter Li-Fraumeni syndrome ⚠
p.Glu343Gln Single submitter Li-Fraumeni syndrome ⚠
p.Glu346Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu346Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu346Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu349Gln Single submitter hereditary neoplastic syndrome ⚠
p.Glu358Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu358Val Single submitter hereditary neoplastic syndrome ⚠
p.Glu3Lys Single submitter Li-Fraumeni syndrome 1 ⚠
p.Glu62Lys Single submitter Li-Fraumeni syndrome ⚠
p.Gly105Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly108Cys Single submitter Li-Fraumeni syndrome ⚠
p.Gly112Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly154Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly187Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly187Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly226Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly244Cys Single submitter hereditary neoplastic syndrome ⚠
p.Gly245Ala Single submitter adrenocortical carcinoma, hereditary ⚠
p.Gly245Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly262Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly266Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly279Arg Single submitter Li-Fraumeni syndrome 1 ⚠
p.Gly302Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly302Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly325Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly325Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly325Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly360= Single submitter Li-Fraumeni syndrome
p.Gly360Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly360Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly361Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly374Cys Single submitter hereditary neoplastic syndrome ⚠
p.Gly374Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly374Val Single submitter hereditary neoplastic syndrome ⚠
p.Gly389Arg Single submitter Li-Fraumeni syndrome ⚠
p.His115Asn Single submitter hereditary neoplastic syndrome ⚠
p.His168Arg Single submitter hereditary neoplastic syndrome ⚠
p.His178Pro Single submitter hereditary neoplastic syndrome ⚠
p.His179Asn Single submitter hereditary neoplastic syndrome ⚠
p.His179Leu Single submitter hereditary neoplastic syndrome ⚠
p.His179Pro Single submitter hereditary neoplastic syndrome ⚠
p.His193Asp Single submitter hereditary neoplastic syndrome ⚠
p.His193Gln Single submitter Li-Fraumeni syndrome ⚠
p.His193Leu Single submitter hereditary neoplastic syndrome ⚠
p.His214Gln Single submitter Hereditary cancer ⚠
p.His233Arg Single submitter hereditary neoplastic syndrome ⚠
p.His368Gln Single submitter hereditary neoplastic syndrome ⚠
p.Ile162Asn Single submitter Li-Fraumeni syndrome ⚠
p.Ile162Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ile162Ser Single submitter Li-Fraumeni syndrome ⚠
p.Ile195Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ile195Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ile232Leu Single submitter hereditary neoplastic syndrome ⚠
p.Ile232Phe Single submitter Li-Fraumeni syndrome ⚠
p.Ile251Asn Single submitter Li-Fraumeni syndrome 1 ⚠
p.Ile251Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ile251Thr Single submitter Li-Fraumeni syndrome ⚠
p.Ile254Ser Single submitter Li-Fraumeni syndrome ⚠
p.Ile255Asn Single submitter hereditary neoplastic syndrome ⚠
p.Ile255Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ile255Ser Single submitter hereditary neoplastic syndrome ⚠
p.Leu114Ser Single submitter Li-Fraumeni syndrome ⚠
p.Leu130Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu130Val Single submitter Li-Fraumeni syndrome 1 ⚠
p.Leu145Arg Single submitter Li-Fraumeni syndrome 1 ⚠
p.Leu145Gln Single submitter hereditary neoplastic syndrome ⚠
p.Leu145Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu145Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu14Gln Single submitter hereditary neoplastic syndrome ⚠
p.Leu14Val Single submitter Li-Fraumeni syndrome ⚠
p.Leu206Ser Single submitter hereditary neoplastic syndrome ⚠
p.Leu206Trp Single submitter hereditary neoplastic syndrome ⚠
p.Leu22= Single submitter hereditary neoplastic syndrome
p.Leu25= Single submitter hereditary neoplastic syndrome
p.Leu252Pro Single submitter Li-Fraumeni syndrome ⚠
p.Leu252Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu257= Single submitter Li-Fraumeni syndrome
p.Leu257Arg Single submitter hereditary neoplastic syndrome ⚠
p.Leu257Gln Single submitter hereditary neoplastic syndrome ⚠
p.Leu257Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu257Val Single submitter Li-Fraumeni syndrome ⚠
p.Leu289Ile Single submitter hereditary neoplastic syndrome ⚠
p.Leu289Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu289Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu299Pro Single submitter hereditary neoplastic syndrome ⚠
p.Leu350Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu350Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu35Met Single submitter hereditary neoplastic syndrome ⚠
p.Leu369= Single submitter Li-Fraumeni syndrome 1
p.Leu383Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu43Phe Single submitter hereditary neoplastic syndrome ⚠

Benign 90

c.97-3C>T Expert panel Li-Fraumeni syndrome
c.*1175A>C Expert panel Li-Fraumeni syndrome
c.*772del Expert panel Li-Fraumeni syndrome
p.Ala63Val Expert panel Li-Fraumeni syndrome
p.Arg290Cys Expert panel Li-Fraumeni syndrome ⚠
p.Arg290His Expert panel Li-Fraumeni syndrome
p.Arg333His Expert panel Li-Fraumeni syndrome
p.Asn235Ser Expert panel Li-Fraumeni syndrome
p.Asp49Asn Expert panel Li-Fraumeni syndrome
p.Asp49His Expert panel Li-Fraumeni syndrome
p.Gln317Lys Expert panel Li-Fraumeni syndrome
p.Gln354Lys Expert panel Li-Fraumeni syndrome
p.Glu298Lys Expert panel Li-Fraumeni syndrome
p.Glu388Ala Expert panel Li-Fraumeni syndrome
p.Gly360Ala Expert panel Li-Fraumeni syndrome
p.Gly374Arg Expert panel Li-Fraumeni syndrome
p.Met384Thr Expert panel Li-Fraumeni syndrome
p.Pro36Gln Expert panel Li-Fraumeni syndrome
p.Pro47Ser Expert panel Li-Fraumeni syndrome
p.Pro72Arg Expert panel Li-Fraumeni syndrome
p.Pro72His Expert panel Li-Fraumeni syndrome ⚠
p.Ser366Ala Expert panel Li-Fraumeni syndrome
p.Thr312Ser Expert panel Li-Fraumeni syndrome
p.Tyr107His Expert panel Li-Fraumeni syndrome
p.Val10Ile Expert panel Li-Fraumeni syndrome
p.Val73Met Expert panel Li-Fraumeni syndrome
c.1101-49C>T Multiple submitters
c.376-125T>C Multiple submitters
c.376-161A>G Multiple submitters
c.376-283T>C Multiple submitters hereditary neoplastic syndrome
c.376-91G>A Multiple submitters hereditary neoplastic syndrome
c.672+220G>T Multiple submitters
c.672+62A>G Multiple submitters hereditary neoplastic syndrome
c.74+38C>A Multiple submitters hereditary neoplastic syndrome
c.74+38C>G Multiple submitters hereditary neoplastic syndrome
c.782+72C>T Multiple submitters hereditary neoplastic syndrome
c.782+92T>G Multiple submitters hereditary neoplastic syndrome
c.96+15_96+26del Multiple submitters hereditary neoplastic syndrome
c.96+41_97-54del Multiple submitters hereditary neoplastic syndrome
c.993+352C>T Multiple submitters hereditary neoplastic syndrome
c.-28-112G>A Multiple submitters
c.*205G>A Multiple submitters Li-Fraumeni syndrome 1
c.*485G>A Multiple submitters Li-Fraumeni syndrome 1
c.*826G>A Multiple submitters Li-Fraumeni syndrome 1
c.1101-221G>A Single submitter
c.1101-73G>C Single submitter
c.1101-88G>A Single submitter
c.559+24C>T Single submitter
c.673-44C>T Single submitter hereditary neoplastic syndrome
c.96+15_96+30del Single submitter hereditary neoplastic syndrome
c.96+18del Single submitter
c.993+391_993+392dup Single submitter
c.993+409del Single submitter
c.993+505G>A Single submitter
c.993+577A>T Single submitter
c.994-17del Single submitter Li-Fraumeni syndrome 1
c.994-17dup Single submitter Li-Fraumeni syndrome 1
c.994-35_994-18dup Single submitter Li-Fraumeni syndrome 1
c.-28-1102T>C Single submitter
c.-28-3132T>C Single submitter
c.-28-317del Single submitter
c.-28-318_-28-317del Single submitter
c.*1701G>T Single submitter hereditary neoplastic syndrome
c.*1C>T Single submitter Li-Fraumeni syndrome 1
c.*328G>A Single submitter Li-Fraumeni syndrome 1
c.*613C>A Single submitter Li-Fraumeni syndrome 1
c.*773C>T Single submitter Li-Fraumeni syndrome 1
p.Ala129Asp Single submitter hereditary neoplastic syndrome
p.Ala76Gly Single submitter hereditary neoplastic syndrome
p.Arg213= Single submitter Li-Fraumeni syndrome 1
p.Arg280= Single submitter Li-Fraumeni syndrome 1
p.Asp259= Single submitter Li-Fraumeni syndrome 1
p.Gln354Leu Single submitter hereditary neoplastic syndrome
p.Glu349= Single submitter Li-Fraumeni syndrome 1
p.Glu51= Single submitter Li-Fraumeni syndrome 1
p.Glu51Asp Single submitter hereditary neoplastic syndrome
p.Ile162= Single submitter Li-Fraumeni syndrome 1
p.Ile195= Single submitter Li-Fraumeni syndrome 1
p.Pro72= Single submitter
p.Pro80= Single submitter Li-Fraumeni syndrome 1
p.Ser313= Single submitter Li-Fraumeni syndrome 1
p.Ser371= Single submitter Li-Fraumeni syndrome 1
p.Ser376= Single submitter Li-Fraumeni syndrome 1
p.Thr211= Single submitter Li-Fraumeni syndrome 1
p.Tyr163= Single submitter Li-Fraumeni syndrome 1
p.Val274Ile Single submitter hereditary neoplastic syndrome
p.Asp324Asn No assertion criteria acute myeloid leukemia ⚠
p.Glu326= No assertion criteria acute myeloid leukemia
p.Pro318Ser No assertion criteria acute myeloid leukemia
p.Ser269Cys No assertion criteria acute myeloid leukemia

Benign/Likely benign 193

c.1100+30A>T Multiple submitters Li-Fraumeni syndrome 1
c.376-101A>T Multiple submitters
c.376-11T>C Multiple submitters Li-Fraumeni syndrome 1
c.376-160_376-158del Multiple submitters hereditary neoplastic syndrome
c.376-17C>T Multiple submitters hereditary neoplastic syndrome
c.376-21_376-20dup Multiple submitters Li-Fraumeni syndrome 1
c.376-86T>C Multiple submitters
c.560-8G>C Multiple submitters hereditary breast carcinoma
c.560-9T>G Multiple submitters Li-Fraumeni syndrome
c.672+15T>C Multiple submitters hereditary neoplastic syndrome
c.672+18G>C Multiple submitters adrenocortical carcinoma, hereditary
c.672+31A>G Multiple submitters hereditary neoplastic syndrome
c.672+48G>A Multiple submitters hereditary neoplastic syndrome
c.673-19G>A Multiple submitters hereditary neoplastic syndrome
c.673-36G>C Multiple submitters Li-Fraumeni syndrome 1
c.74+14T>C Multiple submitters Li-Fraumeni syndrome
c.75-18T>G Multiple submitters hereditary neoplastic syndrome
c.75-23_75-20del Multiple submitters Li-Fraumeni syndrome 1
c.782+10C>T Multiple submitters hereditary neoplastic syndrome
c.782+17C>T Multiple submitters Breast and/or ovarian cancer
c.783-11A>G Multiple submitters hereditary neoplastic syndrome
c.783-33T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.96+15_96+31del Multiple submitters hereditary neoplastic syndrome
c.97-29C>A Multiple submitters hereditary neoplastic syndrome
c.97-6C>T Multiple submitters bone marrow failure syndrome 5
c.97-9C>T Multiple submitters hereditary neoplastic syndrome
c.993+12T>C Multiple submitters hereditary breast ovarian cancer syndrome
c.993+13G>C Multiple submitters Breast and/or ovarian cancer
c.993+223T>G Multiple submitters hereditary neoplastic syndrome
c.994-17C>T Multiple submitters hereditary neoplastic syndrome
c.*1070C>T Multiple submitters hereditary neoplastic syndrome
c.*6T>A Multiple submitters hereditary neoplastic syndrome
p.Ala129= Multiple submitters Li-Fraumeni syndrome 1
p.Ala189= Multiple submitters Li-Fraumeni syndrome
p.Ala307= Multiple submitters Li-Fraumeni syndrome 1
p.Ala69= Multiple submitters hereditary neoplastic syndrome
p.Ala70= Multiple submitters hereditary neoplastic syndrome
p.Ala74= Multiple submitters hereditary neoplastic syndrome
p.Ala76= Multiple submitters hereditary neoplastic syndrome
p.Ala78= Multiple submitters hereditary neoplastic syndrome
p.Ala79= Multiple submitters hereditary neoplastic syndrome
p.Ala83= Multiple submitters hereditary neoplastic syndrome
p.Ala83Val Multiple submitters hereditary neoplastic syndrome
p.Ala84= Multiple submitters Li-Fraumeni syndrome 1
p.Ala88= Multiple submitters hereditary neoplastic syndrome
p.Arg110= Multiple submitters hereditary neoplastic syndrome
p.Arg156= Multiple submitters hereditary neoplastic syndrome
p.Arg158= Multiple submitters hereditary neoplastic syndrome
p.Arg175= Multiple submitters Li-Fraumeni syndrome
p.Arg181= Multiple submitters hereditary neoplastic syndrome
p.Arg249= Multiple submitters Li-Fraumeni syndrome
p.Arg337= Multiple submitters hereditary neoplastic syndrome
p.Arg342= Multiple submitters Li-Fraumeni syndrome
p.Arg363= Multiple submitters hereditary neoplastic syndrome
p.Arg379= Multiple submitters hereditary neoplastic syndrome
p.Arg65= Multiple submitters Li-Fraumeni syndrome 1
p.Asn131= Multiple submitters Li-Fraumeni syndrome 1
p.Asn210= Multiple submitters hereditary neoplastic syndrome
p.Asn235= Multiple submitters Li-Fraumeni syndrome 1
p.Asn239= Multiple submitters hereditary neoplastic syndrome
p.Asn247= Multiple submitters hereditary neoplastic syndrome
p.Asn263= Multiple submitters Li-Fraumeni syndrome 1
p.Asn29= Multiple submitters hereditary neoplastic syndrome
p.Asn30= Multiple submitters hereditary neoplastic syndrome
p.Asn310= Multiple submitters hereditary neoplastic syndrome
p.Asn311= Multiple submitters hereditary neoplastic syndrome
p.Asp21= Multiple submitters hereditary neoplastic syndrome
p.Asp228= Multiple submitters Li-Fraumeni syndrome 1
p.Asp281= Multiple submitters hereditary neoplastic syndrome
p.Asp393= Multiple submitters Li-Fraumeni syndrome
p.Asp41= Multiple submitters hereditary neoplastic syndrome
p.Asp48= Multiple submitters hereditary neoplastic syndrome
p.Asp49= Multiple submitters hereditary breast carcinoma
p.Asp57= Multiple submitters hereditary neoplastic syndrome
p.Asp7= Multiple submitters Li-Fraumeni syndrome 1
p.Cys135= Multiple submitters hereditary neoplastic syndrome
p.Cys141= Multiple submitters Li-Fraumeni syndrome 1
p.Cys229= Multiple submitters Li-Fraumeni syndrome
p.Cys277= Multiple submitters Li-Fraumeni syndrome 1
p.Gln100= Multiple submitters Li-Fraumeni syndrome
p.Gln136= Multiple submitters hereditary neoplastic syndrome
p.Gln144= Multiple submitters hereditary neoplastic syndrome
p.Gln192= Multiple submitters Li-Fraumeni syndrome
p.Gln317= Multiple submitters Li-Fraumeni syndrome
p.Gln354= Multiple submitters familial pancreatic carcinoma
p.Gln375= Multiple submitters hereditary neoplastic syndrome
p.Glu180= Multiple submitters Li-Fraumeni syndrome 1
p.Glu2= Multiple submitters hereditary neoplastic syndrome
p.Glu204= Multiple submitters hereditary neoplastic syndrome
p.Glu285= Multiple submitters hereditary neoplastic syndrome
p.Glu298= Multiple submitters hereditary neoplastic syndrome
p.Glu3= Multiple submitters hereditary neoplastic syndrome
p.Glu346= Multiple submitters Li-Fraumeni syndrome 1
p.Glu56= Multiple submitters hereditary neoplastic syndrome
p.Glu68= Multiple submitters hereditary neoplastic syndrome
p.Gly108= Multiple submitters hereditary neoplastic syndrome
p.Gly112= Multiple submitters hereditary neoplastic syndrome
p.Gly117= Multiple submitters hereditary neoplastic syndrome
p.Gly154= Multiple submitters hereditary neoplastic syndrome
p.Gly226= Multiple submitters Li-Fraumeni syndrome
p.Gly266= Multiple submitters hereditary neoplastic syndrome
p.Gly325= Multiple submitters hereditary neoplastic syndrome
p.Gly334= Multiple submitters hereditary neoplastic syndrome
p.Gly361= Multiple submitters hereditary neoplastic syndrome
p.Gly389= Multiple submitters Li-Fraumeni syndrome 1
p.His115= Multiple submitters hereditary neoplastic syndrome
p.His168= Multiple submitters hereditary neoplastic syndrome
p.His179= Multiple submitters hereditary neoplastic syndrome
p.His214= Multiple submitters hereditary neoplastic syndrome
p.His233= Multiple submitters hereditary neoplastic syndrome
p.His297= Multiple submitters hereditary neoplastic syndrome
p.His365= Multiple submitters hereditary neoplastic syndrome
p.His368= Multiple submitters hereditary neoplastic syndrome
p.Ile251= Multiple submitters hereditary neoplastic syndrome
p.Ile332= Multiple submitters Li-Fraumeni syndrome 1
p.Leu130= Multiple submitters hereditary neoplastic syndrome
p.Leu14= Multiple submitters Li-Fraumeni syndrome 1
p.Leu194= Multiple submitters Breast and/or ovarian cancer
p.Leu206= Multiple submitters Breast and/or ovarian cancer
p.Leu252= Multiple submitters hereditary neoplastic syndrome
p.Leu26= Multiple submitters hereditary neoplastic syndrome
p.Leu289= Multiple submitters hereditary neoplastic syndrome
p.Leu299= Multiple submitters hereditary neoplastic syndrome
p.Leu308= Multiple submitters hereditary neoplastic syndrome
p.Leu323= Multiple submitters hereditary neoplastic syndrome
p.Leu344= Multiple submitters hereditary neoplastic syndrome
p.Leu383= Multiple submitters hereditary neoplastic syndrome
p.Lys139= Multiple submitters Li-Fraumeni syndrome 1
p.Lys164= Multiple submitters hereditary neoplastic syndrome
p.Lys292= Multiple submitters hereditary neoplastic syndrome
p.Lys321= Multiple submitters Li-Fraumeni syndrome 1
p.Lys373= Multiple submitters Li-Fraumeni syndrome
p.Lys382= Multiple submitters Li-Fraumeni syndrome
p.Lys386= Multiple submitters hereditary neoplastic syndrome
p.Phe19= Multiple submitters Li-Fraumeni syndrome
p.Phe338= Multiple submitters hereditary neoplastic syndrome
p.Phe341= Multiple submitters hereditary neoplastic syndrome
p.Pro12= Multiple submitters hereditary neoplastic syndrome
p.Pro13= Multiple submitters hereditary neoplastic syndrome
p.Pro152= Multiple submitters Li-Fraumeni syndrome 1
p.Pro153= Multiple submitters hereditary neoplastic syndrome
p.Pro219= Multiple submitters hereditary neoplastic syndrome
p.Pro222= Multiple submitters Breast and/or ovarian cancer
p.Pro295= Multiple submitters familial pancreatic carcinoma
p.Pro301= Multiple submitters hereditary neoplastic syndrome
p.Pro309= Multiple submitters Li-Fraumeni syndrome 1
p.Pro318= Multiple submitters Li-Fraumeni syndrome
p.Pro34= Multiple submitters hereditary neoplastic syndrome
p.Pro36= Multiple submitters hereditary neoplastic syndrome
p.Pro390= Multiple submitters hereditary neoplastic syndrome
p.Pro4= Multiple submitters hereditary neoplastic syndrome
p.Pro67= Multiple submitters hereditary neoplastic syndrome
p.Pro82= Multiple submitters hereditary neoplastic syndrome
p.Pro85= Multiple submitters hereditary neoplastic syndrome
p.Pro87= Multiple submitters Li-Fraumeni syndrome
p.Pro89= Multiple submitters hereditary neoplastic syndrome
p.Pro98= Multiple submitters hereditary neoplastic syndrome
p.Ser116= Multiple submitters hereditary neoplastic syndrome
p.Ser149= Multiple submitters hereditary neoplastic syndrome
p.Ser15= Multiple submitters hereditary neoplastic syndrome
p.Ser166= Multiple submitters hereditary neoplastic syndrome
p.Ser185= Multiple submitters hereditary neoplastic syndrome
p.Ser20= Multiple submitters hereditary neoplastic syndrome
p.Ser215= Multiple submitters hereditary neoplastic syndrome
p.Ser241= Multiple submitters Li-Fraumeni syndrome 1
p.Ser314= Multiple submitters Li-Fraumeni syndrome
p.Ser33= Multiple submitters hereditary neoplastic syndrome
p.Ser46= Multiple submitters Li-Fraumeni syndrome 1
p.Ser6= Multiple submitters hereditary neoplastic syndrome
p.Ser9= Multiple submitters hereditary neoplastic syndrome
p.Ser94= Multiple submitters hereditary neoplastic syndrome
p.Ser95= Multiple submitters hereditary neoplastic syndrome
p.Ser99= Multiple submitters hereditary neoplastic syndrome
p.Thr118= Multiple submitters Li-Fraumeni syndrome 1
p.Thr140= Multiple submitters Li-Fraumeni syndrome 1
p.Thr155= Multiple submitters hereditary neoplastic syndrome
p.Thr18= Multiple submitters hereditary neoplastic syndrome
p.Thr230= Multiple submitters Li-Fraumeni syndrome 1
p.Thr284= Multiple submitters hereditary neoplastic syndrome
p.Thr377= Multiple submitters Li-Fraumeni syndrome 1
p.Thr387= Multiple submitters hereditary neoplastic syndrome
p.Tyr103= Multiple submitters Li-Fraumeni syndrome
p.Tyr107= Multiple submitters hereditary neoplastic syndrome
p.Tyr205= Multiple submitters hereditary neoplastic syndrome
p.Tyr236= Multiple submitters hereditary neoplastic syndrome
p.Val10= Multiple submitters hereditary neoplastic syndrome
p.Val122= Multiple submitters Li-Fraumeni syndrome 1
p.Val147= Multiple submitters hereditary neoplastic syndrome
p.Val172= Multiple submitters Li-Fraumeni syndrome 1
p.Val173= Multiple submitters Li-Fraumeni syndrome
p.Val216= Multiple submitters hereditary neoplastic syndrome
p.Val272= Multiple submitters hereditary neoplastic syndrome
p.Val274= Multiple submitters Li-Fraumeni syndrome

Likely benign 680

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

c.673-5C>G Expert panel Li-Fraumeni syndrome 1
p.Ala138= Expert panel Li-Fraumeni syndrome
p.Ala63Gly Expert panel Li-Fraumeni syndrome
p.Ala74Val Expert panel Li-Fraumeni syndrome
p.Ala84Thr Expert panel Li-Fraumeni syndrome
p.Arg110His Expert panel Li-Fraumeni syndrome
p.Arg209Lys Expert panel Li-Fraumeni syndrome
p.Arg283Cys Expert panel Li-Fraumeni syndrome
p.Arg333Cys Expert panel Li-Fraumeni syndrome ⚠
p.Arg335Cys Expert panel Li-Fraumeni syndrome
p.Arg342Gln Expert panel Li-Fraumeni syndrome
p.Arg379His Expert panel Li-Fraumeni syndrome
p.Arg379Leu Expert panel Li-Fraumeni syndrome
p.Arg379Ser Expert panel Li-Fraumeni syndrome
p.Asn30del Expert panel Li-Fraumeni syndrome
p.Asp186Asn Expert panel Li-Fraumeni syndrome
p.Asp48Glu Expert panel Li-Fraumeni syndrome
p.Asp48Gly Expert panel Li-Fraumeni syndrome
p.Asp7Glu Expert panel Li-Fraumeni syndrome
p.Glu171Lys Expert panel Li-Fraumeni syndrome
p.Glu339Gln Expert panel Li-Fraumeni syndrome ⚠
p.Gly108Ser Expert panel Li-Fraumeni syndrome
p.Gly262Ser Expert panel Li-Fraumeni syndrome
p.Gly293Trp Expert panel Li-Fraumeni syndrome ⚠
p.Gly356Arg Expert panel Li-Fraumeni syndrome
p.His115Arg Expert panel Li-Fraumeni syndrome
p.His296Tyr Expert panel Li-Fraumeni syndrome
p.His365Tyr Expert panel Li-Fraumeni syndrome ⚠
p.Ile254Val Expert panel Li-Fraumeni syndrome ⚠
p.Ile50Thr Expert panel Li-Fraumeni syndrome
p.Leu111Val Expert panel Li-Fraumeni syndrome
p.Leu289Pro Expert panel Li-Fraumeni syndrome 1
p.Lys292Arg Expert panel Li-Fraumeni syndrome
p.Met160Ile Expert panel Li-Fraumeni syndrome ⚠
p.Met384Val Expert panel Li-Fraumeni syndrome
p.Pro191Arg Expert panel Li-Fraumeni syndrome
p.Pro295Ser Expert panel Li-Fraumeni syndrome
p.Pro316Thr Expert panel Li-Fraumeni syndrome
p.Pro4Leu Expert panel Li-Fraumeni syndrome
p.Pro72Ala Expert panel Li-Fraumeni syndrome
p.Pro82Leu Expert panel Li-Fraumeni syndrome ⚠
p.Ser185Asn Expert panel Li-Fraumeni syndrome
p.Ser260Tyr Expert panel Li-Fraumeni syndrome ⚠
p.Ser303Gly Expert panel Li-Fraumeni syndrome
p.Ser315Thr Expert panel Li-Fraumeni syndrome
p.Thr118Ile Expert panel Li-Fraumeni syndrome
p.Thr170Met Expert panel Li-Fraumeni syndrome ⚠
p.Thr284Ile Expert panel Li-Fraumeni syndrome
p.Val10Leu Expert panel Li-Fraumeni syndrome 1
p.Val122Met Expert panel Li-Fraumeni syndrome
p.Val157Ile Expert panel Li-Fraumeni syndrome
c.1100+10C>A Multiple submitters Li-Fraumeni syndrome 1
c.1100+10C>T Multiple submitters Li-Fraumeni syndrome
c.1100+12C>G Multiple submitters hereditary neoplastic syndrome
c.1100+14_1100+20del Multiple submitters Li-Fraumeni syndrome
c.1100+15C>T Multiple submitters hereditary neoplastic syndrome
c.1100+16C>T Multiple submitters Li-Fraumeni syndrome
c.1100+20T>G Multiple submitters hereditary neoplastic syndrome
c.1100+7G>A Multiple submitters Li-Fraumeni syndrome
c.1100+8A>G Multiple submitters hereditary neoplastic syndrome
c.1101-13C>T Multiple submitters hereditary neoplastic syndrome
c.1101-15T>C Multiple submitters Li-Fraumeni syndrome 1
c.1101-20C>T Multiple submitters Li-Fraumeni syndrome 1
c.1101-43C>T Multiple submitters
c.1101-4A>G Multiple submitters hereditary neoplastic syndrome
c.1101-7C>T Multiple submitters Li-Fraumeni syndrome 1
c.375+13G>A Multiple submitters Li-Fraumeni syndrome 1
c.375+16G>A Multiple submitters hereditary neoplastic syndrome
c.375+17G>A Multiple submitters Li-Fraumeni syndrome
c.375+18G>A Multiple submitters Li-Fraumeni syndrome 1
c.375+8G>C Multiple submitters Li-Fraumeni syndrome 1
c.375+8G>T Multiple submitters Li-Fraumeni syndrome 1
c.376-10C>T Multiple submitters Li-Fraumeni syndrome 1
c.376-117G>A Multiple submitters
c.376-12C>T Multiple submitters Li-Fraumeni syndrome 1
c.376-13C>T Multiple submitters hereditary neoplastic syndrome
c.376-14T>G Multiple submitters hereditary neoplastic syndrome
c.376-15T>C Multiple submitters Li-Fraumeni syndrome
c.376-16C>T Multiple submitters Li-Fraumeni syndrome
c.376-18dup Multiple submitters hereditary neoplastic syndrome
c.376-19C>T Multiple submitters hereditary neoplastic syndrome
c.376-20T>C Multiple submitters hereditary neoplastic syndrome
c.376-7C>T Multiple submitters hereditary neoplastic syndrome
c.376-8T>C Multiple submitters Li-Fraumeni syndrome
c.559+13G>A Multiple submitters hereditary neoplastic syndrome
c.559+20G>A Multiple submitters hereditary neoplastic syndrome
c.559+9C>G Multiple submitters hereditary neoplastic syndrome
c.560-11A>C Multiple submitters Li-Fraumeni syndrome 1
c.560-14C>A Multiple submitters Li-Fraumeni syndrome 1
c.560-15A>C Multiple submitters hereditary neoplastic syndrome
c.560-16C>T Multiple submitters Li-Fraumeni syndrome
c.560-18C>T Multiple submitters Li-Fraumeni syndrome 1
c.560-9del Multiple submitters Li-Fraumeni syndrome 1
c.672+13A>G Multiple submitters Li-Fraumeni syndrome
c.672+14C>G Multiple submitters hereditary neoplastic syndrome
c.672+16G>A Multiple submitters hereditary neoplastic syndrome
c.672+19G>A Multiple submitters hereditary neoplastic syndrome
c.672+48G>T Multiple submitters Li-Fraumeni syndrome
c.672+8_672+22del Multiple submitters Li-Fraumeni syndrome
c.672+9T>C Multiple submitters Li-Fraumeni syndrome 1
c.673-100C>T Multiple submitters
c.673-10T>C Multiple submitters Li-Fraumeni syndrome
c.673-12G>A Multiple submitters Li-Fraumeni syndrome 1
c.673-13T>C Multiple submitters hereditary neoplastic syndrome
c.673-14G>A Multiple submitters Li-Fraumeni syndrome
c.673-15T>G Multiple submitters hereditary neoplastic syndrome
c.673-18G>A Multiple submitters Li-Fraumeni syndrome
c.673-4C>T Multiple submitters Li-Fraumeni syndrome 1
c.673-5C>A Multiple submitters hereditary neoplastic syndrome
c.673-9A>G Multiple submitters Li-Fraumeni syndrome
c.74+10T>G Multiple submitters Li-Fraumeni syndrome 1
c.74+12C>T Multiple submitters hereditary neoplastic syndrome
c.74+20G>A Multiple submitters Li-Fraumeni syndrome
c.74+50_74+55dup Multiple submitters hereditary neoplastic syndrome
c.74+7G>T Multiple submitters Li-Fraumeni syndrome
c.74+8G>A Multiple submitters Li-Fraumeni syndrome 1
c.75-10T>C Multiple submitters Li-Fraumeni syndrome
c.75-11T>C Multiple submitters Li-Fraumeni syndrome 1
c.75-14C>T Multiple submitters hereditary neoplastic syndrome
c.75-17C>A Multiple submitters hereditary neoplastic syndrome
c.75-19T>A Multiple submitters Li-Fraumeni syndrome
c.75-40G>A Multiple submitters hereditary neoplastic syndrome
c.75-41C>T Multiple submitters hereditary neoplastic syndrome
c.75-42G>T Multiple submitters hereditary neoplastic syndrome
c.75-54G>A Multiple submitters hereditary neoplastic syndrome
c.782+14T>G Multiple submitters hereditary neoplastic syndrome
c.782+8G>C Multiple submitters Li-Fraumeni syndrome 1
c.782+8G>T Multiple submitters Li-Fraumeni syndrome
c.782+9C>A Multiple submitters Li-Fraumeni syndrome
c.783-13C>T Multiple submitters hereditary neoplastic syndrome
c.783-14C>T Multiple submitters hereditary neoplastic syndrome
c.783-15T>C Multiple submitters Li-Fraumeni syndrome 1
c.783-34C>T Multiple submitters head and neck squamous cell carcinoma
c.783-7T>C Multiple submitters Li-Fraumeni syndrome 1
c.919+13del Multiple submitters Li-Fraumeni syndrome
c.919+15C>G Multiple submitters Li-Fraumeni syndrome 1
c.919+17A>G Multiple submitters hereditary neoplastic syndrome
c.919+19_919+21del Multiple submitters hereditary neoplastic syndrome
c.919+7A>C Multiple submitters hereditary neoplastic syndrome
c.919+8A>C Multiple submitters Li-Fraumeni syndrome 1
c.919+9G>A Multiple submitters hereditary neoplastic syndrome
c.920-10T>C Multiple submitters Li-Fraumeni syndrome 1
c.920-12C>T Multiple submitters Li-Fraumeni syndrome 1
c.920-13G>A Multiple submitters hereditary breast carcinoma
c.920-13G>C Multiple submitters hereditary neoplastic syndrome
c.920-13G>T Multiple submitters Li-Fraumeni syndrome 1
c.920-14T>C Multiple submitters hereditary neoplastic syndrome
c.920-4C>G Multiple submitters hereditary neoplastic syndrome
c.920-4C>T Multiple submitters Li-Fraumeni syndrome 1
c.920-6T>C Multiple submitters Li-Fraumeni syndrome 1
c.920-7T>G Multiple submitters hereditary neoplastic syndrome
c.920-8T>C Multiple submitters Li-Fraumeni syndrome 1
c.96+15_96+31delinsC Multiple submitters hereditary neoplastic syndrome
c.96+8C>G Multiple submitters Li-Fraumeni syndrome
c.97-11C>A Multiple submitters hereditary neoplastic syndrome
c.97-11C>T Multiple submitters hereditary neoplastic syndrome
c.97-15T>C Multiple submitters Li-Fraumeni syndrome 1
c.97-17T>C Multiple submitters hereditary neoplastic syndrome
c.97-19T>C Multiple submitters Li-Fraumeni syndrome 1
c.97-28T>A Multiple submitters hereditary neoplastic syndrome
c.97-4A>G Multiple submitters Li-Fraumeni syndrome
c.97-4A>T Multiple submitters hereditary neoplastic syndrome
c.97-7T>C Multiple submitters Li-Fraumeni syndrome
c.993+234G>A Multiple submitters Li-Fraumeni syndrome 1
c.993+287T>C Multiple submitters hereditary neoplastic syndrome
c.993+290T>C Multiple submitters hereditary neoplastic syndrome
c.993+310G>A Multiple submitters hereditary neoplastic syndrome
c.993+312C>T Multiple submitters hereditary neoplastic syndrome
c.993+7A>G Multiple submitters Li-Fraumeni syndrome 1
c.994-10G>C Multiple submitters Li-Fraumeni syndrome 1
c.994-12C>T Multiple submitters hereditary neoplastic syndrome
c.994-14_994-12del Multiple submitters hereditary neoplastic syndrome
c.994-15C>T Multiple submitters Li-Fraumeni syndrome
c.994-17C>G Multiple submitters Li-Fraumeni syndrome
c.994-4G>A Multiple submitters Li-Fraumeni syndrome 1
c.994-5T>C Multiple submitters hereditary neoplastic syndrome
c.994-6C>T Multiple submitters Li-Fraumeni syndrome
c.994-7G>A Multiple submitters Li-Fraumeni syndrome 1
c.994-8T>C Multiple submitters Li-Fraumeni syndrome 1
c.*357T>C Multiple submitters Li-Fraumeni syndrome 1
c.*409C>A Multiple submitters Li-Fraumeni syndrome 1
p.Ala159= Multiple submitters hereditary neoplastic syndrome
p.Ala63= Multiple submitters Li-Fraumeni syndrome 1
p.Arg282= Multiple submitters hereditary neoplastic syndrome
p.Asp186= Multiple submitters hereditary neoplastic syndrome
p.Asp186Glu Multiple submitters hereditary neoplastic syndrome
p.Cys242= Multiple submitters hereditary neoplastic syndrome
p.Gln104= Multiple submitters hereditary neoplastic syndrome
p.Gln5= Multiple submitters Li-Fraumeni syndrome
p.Glu171= Multiple submitters hereditary neoplastic syndrome
p.Glu271= Multiple submitters hereditary neoplastic syndrome
p.Glu287= Multiple submitters hereditary neoplastic syndrome
p.Glu336= Multiple submitters hereditary neoplastic syndrome
p.Gly244= Multiple submitters hereditary neoplastic syndrome
p.Gly245= Multiple submitters hereditary neoplastic syndrome
p.Gly293= Multiple submitters hereditary neoplastic syndrome
p.His178= Multiple submitters hereditary neoplastic syndrome
p.Leu114= Multiple submitters hereditary neoplastic syndrome
p.Leu188= Multiple submitters hereditary neoplastic syndrome
p.Leu35= Multiple submitters Li-Fraumeni syndrome
p.Leu93= Multiple submitters Li-Fraumeni syndrome
p.Lys305= Multiple submitters Li-Fraumeni syndrome
p.Phe328= Multiple submitters hereditary neoplastic syndrome
p.Phe385= Multiple submitters Li-Fraumeni syndrome
p.Pro151= Multiple submitters hereditary neoplastic syndrome
p.Pro177= Multiple submitters Li-Fraumeni syndrome 1
p.Pro190= Multiple submitters hereditary neoplastic syndrome
p.Pro27= Multiple submitters hereditary neoplastic syndrome
p.Pro316= Multiple submitters hereditary neoplastic syndrome
p.Pro322= Multiple submitters hereditary neoplastic syndrome
p.Pro64= Multiple submitters Li-Fraumeni syndrome
p.Pro71= Multiple submitters hereditary neoplastic syndrome
p.Ser378= Multiple submitters hereditary neoplastic syndrome
p.Ser96= Multiple submitters Li-Fraumeni syndrome
p.Thr253= Multiple submitters hereditary neoplastic syndrome
p.Tyr220= Multiple submitters Li-Fraumeni syndrome
p.Val218= Multiple submitters Li-Fraumeni syndrome
p.Val97= Multiple submitters hereditary neoplastic syndrome
c.1100+14G>A Single submitter Li-Fraumeni syndrome
c.1100+20T>C Single submitter Li-Fraumeni syndrome
c.1100+31C>T Single submitter
c.1100+3G>C Single submitter
c.1100+8A>T Single submitter Li-Fraumeni syndrome 1
c.1100+9C>A Single submitter Li-Fraumeni syndrome
c.1101-10T>C Single submitter Li-Fraumeni syndrome
c.1101-11_1101-8del Single submitter Li-Fraumeni syndrome
c.1101-17G>A Single submitter Li-Fraumeni syndrome
c.1101-18T>C Single submitter Li-Fraumeni syndrome
c.1101-26C>T Single submitter
c.1101-6C>G Single submitter Li-Fraumeni syndrome
c.1101-8T>A Single submitter Li-Fraumeni syndrome
c.375+10_375+12del Single submitter Li-Fraumeni syndrome
c.375+11C>T Single submitter Li-Fraumeni syndrome
c.375+12T>C Single submitter Li-Fraumeni syndrome
c.375+16G>T Single submitter Li-Fraumeni syndrome
c.375+17_375+18del Single submitter Li-Fraumeni syndrome
c.375+17G>T Single submitter Li-Fraumeni syndrome
c.375+18G>T Single submitter Li-Fraumeni syndrome
c.375+19C>G Single submitter Li-Fraumeni syndrome
c.375+26C>A Single submitter
c.375+49G>A Single submitter
c.375+8G>A Single submitter Li-Fraumeni syndrome
c.375+9C>A Single submitter Li-Fraumeni syndrome 1
c.376-11T>G Single submitter Li-Fraumeni syndrome
c.376-15_376-13del Single submitter Li-Fraumeni syndrome
c.376-158del Single submitter head and neck squamous cell carcinoma
c.376-159_376-158del Single submitter
c.376-161_376-158del Single submitter head and neck squamous cell carcinoma
c.376-18T>G Single submitter Li-Fraumeni syndrome
c.376-24T>A Single submitter
c.376-4A>G Single submitter hereditary neoplastic syndrome
c.376-7C>A Single submitter Li-Fraumeni syndrome
c.376-8del Single submitter Li-Fraumeni syndrome
c.376-8T>G Single submitter Li-Fraumeni syndrome
c.559+10T>C Single submitter Li-Fraumeni syndrome 1
c.559+12G>C Single submitter Li-Fraumeni syndrome
c.559+12G>T Single submitter Li-Fraumeni syndrome
c.559+14G>A Single submitter Li-Fraumeni syndrome
c.559+17G>A Single submitter Li-Fraumeni syndrome
c.559+19A>C Single submitter Li-Fraumeni syndrome
c.559+19A>T Single submitter Li-Fraumeni syndrome
c.559+20G>C Single submitter Li-Fraumeni syndrome
c.559+32C>A Single submitter
c.559+6C>A Single submitter Li-Fraumeni syndrome
c.559+7A>G Single submitter Li-Fraumeni syndrome
c.560-10T>C Single submitter Li-Fraumeni syndrome 1
c.560-11_560-8dup Single submitter Li-Fraumeni syndrome
c.560-11A>G Single submitter Li-Fraumeni syndrome
c.560-12G>C Single submitter Li-Fraumeni syndrome
c.560-12G>T Single submitter Li-Fraumeni syndrome 1
c.560-14C>T Single submitter Li-Fraumeni syndrome
c.560-15A>G Single submitter Li-Fraumeni syndrome 1
c.560-17T>C Single submitter Li-Fraumeni syndrome 1
c.560-4T>C Single submitter Li-Fraumeni syndrome
c.560-6T>C Single submitter Li-Fraumeni syndrome
c.560-7C>T Single submitter Li-Fraumeni syndrome 1
c.560-8G>T Single submitter Li-Fraumeni syndrome
c.672+13A>C Single submitter Li-Fraumeni syndrome
c.672+14C>T Single submitter Li-Fraumeni syndrome
c.672+15del Single submitter Li-Fraumeni syndrome
c.672+15T>G Single submitter
c.672+17G>A Single submitter Li-Fraumeni syndrome
c.672+18G>A Single submitter Li-Fraumeni syndrome
c.672+20T>A Single submitter Li-Fraumeni syndrome
c.672+24T>C Single submitter
c.672+34G>A Single submitter
c.672+35G>T Single submitter
c.672+7T>G Single submitter Li-Fraumeni syndrome 1
c.673-12G>T Single submitter Li-Fraumeni syndrome 1
c.673-16C>T Single submitter Li-Fraumeni syndrome
c.673-18del Single submitter Li-Fraumeni syndrome 1
c.673-20G>T Single submitter Li-Fraumeni syndrome
c.673-236dup Single submitter
c.673-29C>T Single submitter
c.673-33C>T Single submitter
c.673-8del Single submitter Li-Fraumeni syndrome
c.673-8T>C Single submitter Li-Fraumeni syndrome
c.74+12del Single submitter Li-Fraumeni syndrome
c.74+14T>A Single submitter Li-Fraumeni syndrome
c.74+15_74+16insA Single submitter Li-Fraumeni syndrome

Uncertain significance 866

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

c.559+5G>A Expert panel Li-Fraumeni syndrome
p.Ala138Asp Expert panel Li-Fraumeni syndrome ⚠
p.Ala138Gly Expert panel Li-Fraumeni syndrome ⚠
p.Ala138Thr Expert panel Li-Fraumeni syndrome ⚠
p.Ala347Thr Expert panel Li-Fraumeni syndrome ⚠
p.Ala69Gly Expert panel Li-Fraumeni syndrome ⚠
p.Arg110Cys Expert panel Li-Fraumeni syndrome ⚠
p.Arg156His Expert panel Li-Fraumeni syndrome 1 ⚠
p.Arg158Cys Expert panel Li-Fraumeni syndrome ⚠
p.Arg175Cys Expert panel Li-Fraumeni syndrome ⚠
p.Arg181Ser Expert panel Li-Fraumeni syndrome ⚠
p.Arg196Gln Expert panel Li-Fraumeni syndrome ⚠
p.Arg267Gln Expert panel Li-Fraumeni syndrome ⚠
p.Arg282Leu Expert panel Li-Fraumeni syndrome ⚠
p.Asn131Lys Expert panel Li-Fraumeni syndrome ⚠
p.Cys277Arg Expert panel Li-Fraumeni syndrome ⚠
p.Gln144Leu Expert panel Li-Fraumeni syndrome ⚠
p.Gln16Lys Expert panel Li-Fraumeni syndrome ⚠
p.Gly105Ser Expert panel Li-Fraumeni syndrome ⚠
p.Gly154Arg Expert panel Li-Fraumeni syndrome ⚠
p.Gly154Asp Expert panel Li-Fraumeni syndrome ⚠
p.Gly334Arg Expert panel Li-Fraumeni syndrome ⚠
p.His214Tyr Expert panel Li-Fraumeni syndrome ⚠
p.His368Tyr Expert panel Li-Fraumeni syndrome ⚠
p.Leu264Pro Expert panel Li-Fraumeni syndrome ⚠
p.Leu35Phe Expert panel Li-Fraumeni syndrome ⚠
p.Lys373fs Expert panel Li-Fraumeni syndrome
p.Phe212Ile Expert panel Li-Fraumeni syndrome ⚠
p.Pro13Ser Expert panel Li-Fraumeni syndrome ⚠
p.Pro219Leu Expert panel Li-Fraumeni syndrome ⚠
p.Pro72Cys Expert panel Li-Fraumeni syndrome
p.Trp146Gly Expert panel Li-Fraumeni syndrome
p.Val203Met Expert panel Li-Fraumeni syndrome ⚠
c.1100+3G>A Multiple submitters hereditary neoplastic syndrome
c.1100+4A>T Multiple submitters hereditary neoplastic syndrome
c.1100+4del Multiple submitters Li-Fraumeni syndrome
c.1100+5G>A Multiple submitters Li-Fraumeni syndrome
c.375+1_375+5dup Multiple submitters hereditary neoplastic syndrome
c.375+4A>G Multiple submitters hereditary neoplastic syndrome
c.375+5_375+11del Multiple submitters hereditary neoplastic syndrome
c.375+6T>C Multiple submitters hereditary neoplastic syndrome
c.376-3C>G Multiple submitters hereditary neoplastic syndrome
c.559+4A>G Multiple submitters Li-Fraumeni syndrome
c.559+5G>C Multiple submitters adrenocortical carcinoma, hereditary
c.559+6C>T Multiple submitters Li-Fraumeni syndrome
c.560-14_560-13del Multiple submitters Li-Fraumeni syndrome
c.672+6G>A Multiple submitters hereditary neoplastic syndrome
c.782+4A>C Multiple submitters Li-Fraumeni syndrome
c.782+5G>A Multiple submitters hereditary neoplastic syndrome
c.783-6G>A Multiple submitters Li-Fraumeni syndrome 1
c.784_786del Multiple submitters hereditary neoplastic syndrome
c.919+5G>A Multiple submitters hereditary neoplastic syndrome
c.96+5G>C Multiple submitters Li-Fraumeni syndrome
c.993+4C>G Multiple submitters hereditary neoplastic syndrome
c.993+4del Multiple submitters hereditary neoplastic syndrome
c.993+5T>C Multiple submitters hereditary neoplastic syndrome
c.994-8T>A Multiple submitters Li-Fraumeni syndrome
c.-10G>T Multiple submitters Li-Fraumeni syndrome 1
c.-28-2A>G Multiple submitters hereditary neoplastic syndrome
c.-3G>A Multiple submitters hereditary neoplastic syndrome
c.-5C>T Multiple submitters hereditary neoplastic syndrome
p.Ala119Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala119Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala159_Met160insArgAla Multiple submitters hereditary neoplastic syndrome
p.Ala161Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala189Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala276Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala307Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala347Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala355Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala364Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala364Val Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Ala70Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala76Val Multiple submitters Li-Fraumeni syndrome ⚠
p.Ala79_Ala88del Multiple submitters Li-Fraumeni syndrome 1
p.Ala79Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg110Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg174Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg174Ser Multiple submitters Li-Fraumeni syndrome ⚠
p.Arg202Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg267Leu Multiple submitters Li-Fraumeni syndrome ⚠
p.Arg283Gly Multiple submitters Li-Fraumeni syndrome ⚠
p.Arg283His Multiple submitters TP53-related disorder ⚠
p.Arg290= Multiple submitters Li-Fraumeni syndrome
p.Arg290Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg342Gly Multiple submitters Li-Fraumeni syndrome
p.Arg363Lys Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Asn131Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn200Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn235Ile Multiple submitters Li-Fraumeni syndrome ⚠
p.Asn239dup Multiple submitters hereditary neoplastic syndrome
p.Asn29Lys Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Asn29Thr Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Asn311Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp207Gly Multiple submitters hereditary neoplastic syndrome
p.Asp208Gly Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Asp208His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp228Asn Multiple submitters Li-Fraumeni syndrome ⚠
p.Asp259Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp259His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp324Tyr Multiple submitters Li-Fraumeni syndrome ⚠
p.Asp57Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys182Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys229Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys277Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys277Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln136His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln136Leu Multiple submitters hereditary breast ovarian cancer syndrome ⚠
p.Gln144Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln165_Gln167del Multiple submitters hereditary neoplastic syndrome
p.Gln167Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln167Pro Multiple submitters Li-Fraumeni syndrome ⚠
p.Gln16His Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Gln192Glu Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Gln192His Multiple submitters hereditary neoplastic syndrome
p.Gln317Leu Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Gln331Lys Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Gln375Ter Multiple submitters hereditary neoplastic syndrome
p.Gln52Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu180Asp Multiple submitters Li-Fraumeni syndrome ⚠
p.Glu198Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu221Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu224Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu224Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu224Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu258Ala Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Glu271Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu285Gln Multiple submitters Li-Fraumeni syndrome ⚠
p.Glu285Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu2Gly Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Glu326Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu343Asp Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Glu3Gln Multiple submitters lung adenocarcinoma ⚠
p.Glu3Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu62_Pro77del Multiple submitters Li-Fraumeni syndrome
p.Glu68Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly108Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly108Asp Multiple submitters Li-Fraumeni syndrome ⚠
p.Gly112Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly117Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly154Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly154Ser Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Gly187Ala Multiple submitters Li-Fraumeni syndrome ⚠
p.Gly187Asp Multiple submitters hereditary neoplastic syndrome
p.Gly187Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly199Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly199Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly226Ala Multiple submitters Li-Fraumeni syndrome ⚠
p.Gly226Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly334Glu Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Gly361Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His178Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His178Asn Multiple submitters Li-Fraumeni syndrome ⚠
p.His214Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.His214Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.His297Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His368Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile195Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile251Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile251Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile50Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu111Met Multiple submitters hereditary neoplastic syndrome
p.Leu252del Multiple submitters Li-Fraumeni syndrome
p.Leu265= Multiple submitters Li-Fraumeni syndrome
p.Leu330Arg Multiple submitters Li-Fraumeni syndrome ⚠
p.Leu344Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu350Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu43Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu93Pro Multiple submitters ⚠
p.Lys101Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys101Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys120Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys120Gln Multiple submitters TP53-related disorder ⚠
p.Lys120Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys139Gln Multiple submitters Li-Fraumeni syndrome ⚠
p.Lys139Glu Multiple submitters Li-Fraumeni syndrome ⚠
p.Lys139Thr Multiple submitters Li-Fraumeni syndrome ⚠
p.Lys292Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys320Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys321del Multiple submitters hereditary neoplastic syndrome
p.Lys351Asn Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Lys351Glu Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Lys381Glu Multiple submitters Li-Fraumeni syndrome
p.Lys382Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met169Ile Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Met169Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met237Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Met237Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met243Leu Multiple submitters Li-Fraumeni syndrome ⚠
p.Met340Lys Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Met66Arg Multiple submitters Li-Fraumeni syndrome ⚠
p.Phe109Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe328Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe338Cys Multiple submitters Li-Fraumeni syndrome ⚠
p.Phe338Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro128Leu Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro142Ala Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro142Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro142Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro152Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro153del Multiple submitters Li-Fraumeni syndrome 1
p.Pro177His Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro177Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro177Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro190Ser Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro190Thr Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Pro191His Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro223Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro250Ala Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Pro250Ser Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro250Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro278_Arg283dup Multiple submitters hereditary neoplastic syndrome
p.Pro27Arg Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro27Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro309Leu Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Pro34Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro36Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro47Ala Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro64Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro67Ala Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro72Ser Multiple submitters hereditary neoplastic syndrome
p.Pro80Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro85Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro87Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro98Ala Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro98Arg Multiple submitters Li-Fraumeni syndrome ⚠
p.Pro98Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser121Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser149Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser149Pro Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Ser166Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser20Leu Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Ser20Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser215Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser227Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser240Arg Multiple submitters Li-Fraumeni syndrome ⚠
p.Ser261Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser269Arg Multiple submitters Li-Fraumeni syndrome ⚠
p.Ser314Cys Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Ser315Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser315Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser362Gly Multiple submitters Li-Fraumeni syndrome ⚠
p.Ser366Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser366Pro Multiple submitters Li-Fraumeni syndrome 1 ⚠
p.Ser366Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser367Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser37Cys Multiple submitters Li-Fraumeni syndrome ⚠
p.Ser90Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser95Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser96del Multiple submitters hereditary neoplastic syndrome
p.Ter394Trp Multiple submitters Li-Fraumeni syndrome
p.Thr123Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr125Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr140Ser Multiple submitters Li-Fraumeni syndrome ⚠
p.Thr170Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr170Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr170Ser Multiple submitters hereditary neoplastic syndrome
p.Thr211Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr230Ala Multiple submitters Li-Fraumeni syndrome ⚠
p.Thr231Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr231Ile Multiple submitters Li-Fraumeni syndrome ⚠
p.Thr231Ser Multiple submitters adrenocortical carcinoma, hereditary ⚠
p.Thr253Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr256Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr256Ile Multiple submitters Li-Fraumeni syndrome ⚠
p.Thr304Ile Multiple submitters Li-Fraumeni syndrome ⚠
p.Thr312Ile Multiple submitters Li-Fraumeni syndrome ⚠
p.Thr377Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr107Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Val122Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val143Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val147Ala Multiple submitters Li-Fraumeni syndrome ⚠
p.Val172Ile Multiple submitters Li-Fraumeni syndrome ⚠
p.Val197Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val203Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val216Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val272Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val31Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Val97Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Val97Ile Multiple submitters Li-Fraumeni syndrome ⚠
c.1100+1_1100+14del Single submitter hereditary neoplastic syndrome
c.1100+1G>A Single submitter hereditary neoplastic syndrome
c.1100+2T>C Single submitter hereditary neoplastic syndrome
c.1100+5G>C Single submitter Li-Fraumeni syndrome
c.1100+5G>T Single submitter Li-Fraumeni syndrome
c.1101-13C>G Single submitter hereditary neoplastic syndrome
c.1101-313G>A Single submitter lung adenocarcinoma
c.1101-83_1106del Single submitter hereditary neoplastic syndrome
c.1156_1157insALU Single submitter hereditary neoplastic syndrome
c.375+3_375+11del Single submitter Li-Fraumeni syndrome
c.375+4_375+5dup Single submitter Li-Fraumeni syndrome
c.375+5G>T Single submitter Li-Fraumeni syndrome
c.376-3C>T Single submitter Li-Fraumeni syndrome
c.376-50_376-7del Single submitter Li-Fraumeni syndrome
c.549_559+9dup Single submitter Li-Fraumeni syndrome
c.559+15_559+35del Single submitter Li-Fraumeni syndrome
c.559+16_559+39del Single submitter hereditary neoplastic syndrome
c.559+19_559+35del Single submitter hereditary breast ovarian cancer syndrome
c.559+3G>A Single submitter Li-Fraumeni syndrome
c.559+3G>C Single submitter Li-Fraumeni syndrome