CDC73 — 1821 ClinVar variants

All ClinVar germline CDC73 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 698 flagged for review →

114 Pathogenic · 5 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 58 Conflicting · 29 Benign · 28 Benign/Likely benign · 716 Likely benign · 845 Uncertain significance

Full CDC73 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 698

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

Predictors agree, ClinVar conflicts 11

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

CDC73 p.Ala102Val Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Ala337Thr Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Arg330Gln Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Arg504His Conflicting Single submitter
parathyroid gland carcinoma
CDC73 p.Asn272Ser Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Asp379Glu Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Gly396Asp Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Leu95Pro Conflicting Single submitter
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
CDC73 p.Met412Ile Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Met435Thr Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Val131Ile Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 395

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 395

CDC73 p.Ala102Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala112Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala127Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala273Val Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Ala289Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala327Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala329Ser Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Ala337Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala377Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala444Thr Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Arg120Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg139Gln Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Arg156Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg229Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg234Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg268Gln Uncertain significance Multiple submitters
CDC73-related disorder
CDC73 p.Arg268Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg281Leu Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Arg330Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg342Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg358Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg399Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg407Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg408Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg426Gly Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Arg441Cys Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Arg441Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg441His Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Arg504Cys Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Arg513Gln Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Arg76Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg9Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn244Ser Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Asn272Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn272Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn291Ser Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Asn352Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn66Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp223Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp379Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp3Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp463Tyr Uncertain significance Multiple submitters
hyperparathyroidism 2 with jaw tumors
CDC73 p.Asp468Tyr Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Asp507Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp507Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Cys145Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Cys145Tyr Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gln10Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln14Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln210Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln284Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln333Glu Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gln338Pro Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gln398Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln398Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Glu228Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Glu29Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Glu482Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly100Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly100Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly28Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly396Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly49Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.His505Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.His528Tyr Uncertain significance Multiple submitters
hyperparathyroidism 2 with jaw tumors
CDC73 p.Ile116Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile13Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile13Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile205Val Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Ile237Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile249Thr Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Ile26Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile286Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile362Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile419Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile469Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Leu114Phe Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Leu132Ile Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Leu371Ser Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Leu434Phe Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Leu460Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Leu5Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Leu69Phe Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Lys209Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys243Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys283Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys308Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys308Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys409Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys472Glu Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Lys491Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys491Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Met374Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Met412Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Met412Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Met435Val Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Phe27Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Phe298Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro271Ala Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro285Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro33Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro341Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro341Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro350Leu Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro360Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro360Ser Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro436Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro462Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro466Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser103Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser107Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser31Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser31Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser322Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser420Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser6Ile Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Thr104Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr122Ala Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Thr241Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr241Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr282Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr282Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr282Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr304Met Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Thr334Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr359Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr359Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr368Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr38Asn Uncertain significance Multiple submitters
hyperparathyroidism 2 with jaw tumors
CDC73 p.Thr403Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr417Ala Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Thr417Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr56Ile Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Thr56Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr80Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Trp492Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Tyr40Cys Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Tyr425Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Tyr480Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Tyr501His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Tyr74Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val146Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val230Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val256Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val387Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val447Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val489Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val4Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val523Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val67Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 292

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 292

CDC73 p.Ala102Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala106Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala127Val Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Ala128Thr Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Ala133Gly Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Ala135Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala251Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala270Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala336Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ala377Thr Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Arg120Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg222Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg263Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg263His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg281His Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Arg348Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg484Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg484His Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Arg513Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg520Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Arg77His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn12His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn352Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn35Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn488Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn65His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asn99Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp129Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp200Gly Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Asp203Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp23Glu Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Asp294His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Asp390His Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Asp463Asn Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gln10Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln14Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln254Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln254His Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gln284His Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gln346His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln395Arg Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gln395Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln398Leu Uncertain significance Multiple submitters
hyperparathyroidism 2 with jaw tumors
CDC73 p.Gln411His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln411Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln413Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln437Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln490Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln490His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gln50Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Glu134Gly Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Glu158Val Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Glu400Asp Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gly22Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly22Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly306Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly326Ser Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Gly356Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Gly416Ala Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Gly416Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.His525Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile108Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile116Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile252Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile363Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile469Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ile60Val Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Lys125Arg Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Lys16Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys21Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys283Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys37Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys385Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys409Arg Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Lys455Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Lys474Arg Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Met177Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Met374Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Met522Val Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Phe245Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Phe511Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro138Ala Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro265Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro269Arg Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro275Ser Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro287Leu Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro335Arg Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro335Ser Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro339Arg Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro339Leu Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Pro349Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro350Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro388Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro388Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro414Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro414Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro436Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro462Ser Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Pro487Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Pro509Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser105Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser107Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser226Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser357Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser389Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Ser527Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr368Ile Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Thr369Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr422Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Thr517Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val19Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val20Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val220Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val340Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 p.Val442Ile Uncertain significance Multiple submitters
hyperparathyroidism 2 with jaw tumors
CDC73 p.Val494Ile Uncertain significance Multiple submitters
hyperparathyroidism 1
CDC73 p.Val496Ile Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Val510Leu Uncertain significance Multiple submitters
parathyroid gland carcinoma
CDC73 p.Val510Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
CDC73 c.973-23487G>A Uncertain significance Single submitter
hyperparathyroidism 1
CDC73 p.Ala154Val Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Ala216Pro Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Ala258Val Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Ala270Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Ala270Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Ala273Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Ala327Pro Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Ala367Gly Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Ala451Thr Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Arg120Leu Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Arg227Lys Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Arg263Leu Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Arg281Cys Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Arg281Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Arg330Gly Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Arg330Leu Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Arg508Lys Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Asn12Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Asn244Asp Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Asn244Thr Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Asn248Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Asn352His Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Asn35Asp Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Asn35Ser Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Asn39Ser Conflicting Single submitter
hereditary neoplastic syndrome
CDC73 p.Asn401Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Asn66Ser Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Asn82Asp Uncertain significance Single submitter
parathyroid gland carcinoma
CDC73 p.Asp149Asn Uncertain significance Single submitter
hereditary neoplastic syndrome
CDC73 p.Asp149His Uncertain significance Single submitter
hereditary neoplastic syndrome

All CDC73 variants

Pathogenic 114

c.237+1G>A Multiple submitters parathyroid gland carcinoma
c.423+1G>A Multiple submitters parathyroid gland carcinoma
p.Arg120Ter Multiple submitters parathyroid gland carcinoma
p.Arg139Ter Multiple submitters hyperparathyroidism 1
p.Arg171fs Multiple submitters hereditary neoplastic syndrome
p.Arg222Ter Multiple submitters hyperparathyroidism 1
p.Arg229fs Multiple submitters parathyroid gland carcinoma
p.Arg229Ter Multiple submitters hereditary neoplastic syndrome
p.Arg234Ter Multiple submitters hereditary neoplastic syndrome
p.Arg76Ter Multiple submitters hereditary neoplastic syndrome
p.Arg91Ter Multiple submitters hyperparathyroidism 1
p.Arg9Ter Multiple submitters hereditary neoplastic syndrome
p.Asn82fs Multiple submitters hereditary neoplastic syndrome
p.Gln119Ter Multiple submitters parathyroid gland carcinoma
p.Gln338Ter Multiple submitters hereditary neoplastic syndrome
p.Glu29Ter Multiple submitters parathyroid gland carcinoma
p.Glu81fs Multiple submitters parathyroid gland carcinoma
p.Lys209fs Multiple submitters parathyroid gland carcinoma
p.Ser174fs Multiple submitters hyperparathyroidism 1
p.Trp32Ter Multiple submitters hereditary neoplastic syndrome
p.Trp43Ter Multiple submitters parathyroid gland carcinoma
p.Val230fs Multiple submitters CDC73-related disorder
c.131+1del Single submitter hyperparathyroidism 2 with jaw tumors
c.131+1G>T Single submitter parathyroid gland carcinoma
c.237+1G>C Single submitter parathyroid gland carcinoma
c.237+1G>T Single submitter
c.238-2A>T Single submitter
p.Ala2fs Single submitter parathyroid gland carcinoma
p.Ala79fs Single submitter parathyroid gland carcinoma
p.Arg152fs Single submitter parathyroid gland carcinoma
p.Arg194fs Single submitter parathyroid gland carcinoma
p.Arg211fs Single submitter parathyroid gland carcinoma
p.Arg342fs Single submitter parathyroid gland carcinoma
p.Arg358Ter Single submitter parathyroid gland carcinoma
p.Asn12fs Single submitter parathyroid gland carcinoma
p.Asn352fs Single submitter parathyroid gland carcinoma
p.Asp109fs Single submitter parathyroid gland carcinoma
p.Gln10Ter Single submitter parathyroid gland carcinoma
p.Gln14Ter Single submitter parathyroid gland carcinoma
p.Gln166Ter Single submitter parathyroid gland carcinoma
p.Gln169Ter Single submitter parathyroid gland carcinoma
p.Gln210Ter Single submitter parathyroid gland carcinoma
p.Gln382Ter Single submitter hereditary neoplastic syndrome
p.Gln413fs Single submitter parathyroid gland carcinoma
p.Gln437fs Single submitter parathyroid gland carcinoma
p.Glu115Ter Single submitter parathyroid gland carcinoma
p.Glu162fs Single submitter parathyroid gland carcinoma
p.Glu168fs Single submitter parathyroid gland carcinoma
p.Glu17fs Single submitter
p.Glu391Ter Single submitter hereditary neoplastic syndrome
p.Glu53fs Single submitter hereditary neoplastic syndrome
p.Glu53Ter Single submitter parathyroid gland carcinoma
p.Gly22Ter Single submitter parathyroid gland carcinoma
p.Gly242fs Single submitter
p.Gly300fs Single submitter hereditary neoplastic syndrome
p.Gly416fs Single submitter parathyroid gland carcinoma
p.Gly49fs Single submitter parathyroid gland carcinoma
p.His68fs Single submitter parathyroid gland carcinoma
p.Ile469fs Single submitter parathyroid gland carcinoma
p.Ile473fs Single submitter parathyroid gland carcinoma
p.Leu114Ter Single submitter parathyroid gland carcinoma
p.Leu57Ter Single submitter parathyroid gland carcinoma
p.Leu63Pro Single submitter parathyroid gland carcinoma
p.Lys125fs Single submitter
p.Lys136Ter Single submitter parathyroid gland carcinoma
p.Lys150fs Single submitter hereditary neoplastic syndrome
p.Lys15Ter Single submitter parathyroid gland carcinoma
p.Lys34fs Single submitter parathyroid gland carcinoma
p.Lys34Ter Single submitter hyperparathyroidism 2 with jaw tumors
p.Lys355fs Single submitter hereditary neoplastic syndrome
p.Lys37Ter Single submitter
p.Lys392fs Single submitter parathyroid gland carcinoma
p.Lys393Ter Single submitter parathyroid gland carcinoma
p.Lys409fs Single submitter hereditary neoplastic syndrome
p.Met177fs Single submitter parathyroid gland carcinoma
p.Met1fs Single submitter parathyroid gland carcinoma
p.Met1Ile Single submitter parathyroid gland carcinoma
p.Met1Leu Single submitter hereditary neoplastic syndrome
p.Met1Thr Single submitter Inborn genetic diseases
p.Met1Val Single submitter parathyroid gland carcinoma
p.Phe298fs Single submitter parathyroid gland carcinoma
p.Pro343fs Single submitter parathyroid gland carcinoma
p.Pro351fs Single submitter parathyroid gland carcinoma
p.Pro466fs Single submitter parathyroid gland carcinoma
p.Ser111fs Single submitter parathyroid gland carcinoma
p.Ser240fs Single submitter parathyroid gland carcinoma
p.Ser465fs Single submitter hereditary neoplastic syndrome
p.Ser465Ter Single submitter
p.Ser6fs Single submitter parathyroid gland carcinoma
p.Thr235fs Single submitter parathyroid gland carcinoma
p.Thr334fs Single submitter parathyroid gland carcinoma
p.Trp231Ter Single submitter hereditary neoplastic syndrome
p.Trp32fs Single submitter parathyroid gland carcinoma
p.Trp457Ter Single submitter hereditary neoplastic syndrome
p.Trp459Ter Single submitter parathyroid gland carcinoma
p.Tyr11fs Single submitter parathyroid gland carcinoma
p.Tyr293fs Single submitter parathyroid gland carcinoma
p.Tyr293Ter Single submitter parathyroid gland carcinoma
p.Tyr425fs Single submitter parathyroid gland carcinoma
p.Tyr54Ter Single submitter parathyroid gland carcinoma
p.Tyr74fs Single submitter parathyroid gland carcinoma
p.Tyr97Ter Single submitter
p.Val19fs Single submitter parathyroid gland carcinoma
p.Val494_Thr495insTer Single submitter hereditary neoplastic syndrome
p.Val4fs Single submitter parathyroid gland carcinoma
c.238-1G>A No assertion criteria hyperparathyroidism 2 with jaw tumors
p.Arg126fs No assertion criteria parathyroid gland carcinoma
p.Arg227fs No assertion criteria hyperparathyroidism 2 with jaw tumors
p.Asp3fs No assertion criteria Ossifying fibroma of the jaw
p.Glu29fs No assertion criteria parathyroid gland carcinoma
p.Ile18fs No assertion criteria Cystic parathyroid adenoma
p.Leu5_Gln10del No assertion criteria parathyroid gland carcinoma
p.Leu5fs No assertion criteria Ossifying fibroma of the jaw
p.Val256fs No assertion criteria hyperparathyroidism 2 with jaw tumors

Pathogenic/Likely pathogenic 5

c.131+1G>A Multiple submitters hereditary neoplastic syndrome
p.Arg126Ter Multiple submitters hereditary neoplastic syndrome
p.Arg268Ter Multiple submitters parathyroid gland carcinoma
p.Arg399Ter Multiple submitters hereditary neoplastic syndrome
p.His160fs Multiple submitters parathyroid gland carcinoma

Likely pathogenic 26

c.1030+2T>C Multiple submitters hereditary neoplastic syndrome
c.513-1G>A Multiple submitters parathyroid gland carcinoma
c.1030+1G>A Single submitter hereditary neoplastic syndrome
c.1031-1G>T Single submitter parathyroid gland carcinoma
c.1067-2_1069del Single submitter parathyroid gland carcinoma
c.1067-2A>G Single submitter hereditary neoplastic syndrome
c.1316+1del Single submitter parathyroid gland carcinoma
c.132-2A>C Single submitter parathyroid gland carcinoma
c.132-2A>G Single submitter hyperparathyroidism 1
c.237_237+1insA Single submitter parathyroid gland carcinoma
c.238-1G>T Single submitter hereditary neoplastic syndrome
c.238-8G>A Single submitter parathyroid gland carcinoma
c.307+1G>A Single submitter parathyroid gland carcinoma
c.307+2T>A Single submitter hereditary neoplastic syndrome
c.307+2T>G Single submitter parathyroid gland carcinoma
c.512+1del Single submitter hyperparathyroidism 2 with jaw tumors
c.729+1G>T Single submitter parathyroid gland carcinoma
c.908-2A>G Single submitter hyperparathyroidism 1
p.Ala184fs Single submitter hyperparathyroidism 2 with jaw tumors
p.Glu24Ter Single submitter multiple endocrine neoplasia type 1
p.Leu64Pro Single submitter parathyroid gland carcinoma
p.Leu95Arg Single submitter hereditary neoplastic syndrome
p.Ser195fs Single submitter hyperparathyroidism 2 with jaw tumors
p.Trp43fs Single submitter parathyroid gland carcinoma
p.Glu144Ter No assertion criteria
p.Trp231delinsAsnArgGlyValLeuTrpMetLeuArgTer No assertion criteria CDC73-related disorder

Conflicting classifications of pathogenicity 58

c.1031-5C>T Single submitter hereditary neoplastic syndrome
c.1066+5G>A Single submitter parathyroid gland carcinoma
c.1155-3A>G Single submitter hereditary neoplastic syndrome
c.1155-5C>T Single submitter hereditary neoplastic syndrome
c.131+3A>G Single submitter parathyroid gland carcinoma
c.131+4A>G Single submitter hereditary neoplastic syndrome
c.1317-3T>C Single submitter hereditary neoplastic syndrome
c.1417+9C>T Single submitter parathyroid gland carcinoma
c.1418-10C>G Single submitter parathyroid gland carcinoma
c.1418-4A>G Single submitter hereditary neoplastic syndrome
c.1559+4A>G Single submitter hereditary neoplastic syndrome
c.1559+4A>T Single submitter hereditary neoplastic syndrome
c.238-5T>C Single submitter hereditary neoplastic syndrome
c.308-3C>T Single submitter hereditary neoplastic syndrome
c.424-12G>A Single submitter parathyroid gland carcinoma
c.512+5G>C Single submitter hereditary neoplastic syndrome
c.513-12A>G Single submitter parathyroid gland carcinoma
c.513-8G>T Single submitter hyperparathyroidism 2 with jaw tumors
c.829-3C>T Single submitter parathyroid gland carcinoma
c.972+3A>G Single submitter hereditary neoplastic syndrome
c.973-18A>G Single submitter hyperparathyroidism 2 with jaw tumors
c.973-6T>C Single submitter hyperparathyroidism 1
c.-11G>A Single submitter hyperparathyroidism
c.-4dup Single submitter hereditary neoplastic syndrome
c.*1499T>A Single submitter hyperparathyroidism 1
c.*1833A>G Single submitter parathyroid gland carcinoma
p.Ala102Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala337Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg227Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg281Cys Single submitter hereditary neoplastic syndrome ⚠
p.Arg292= Single submitter hyperparathyroidism 2 with jaw tumors
p.Arg330Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg504His Single submitter parathyroid gland carcinoma ⚠
p.Arg52= Single submitter hereditary neoplastic syndrome
p.Asn272Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn39Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asp379Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp383Glu Single submitter hereditary neoplastic syndrome ⚠
p.Glu24= Single submitter hyperparathyroidism 1
p.Glu325= Single submitter hereditary neoplastic syndrome
p.Gly396Asp Single submitter hereditary neoplastic syndrome ⚠
p.His525Arg Single submitter parathyroid gland carcinoma ⚠
p.Ile361Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu485Val Single submitter hereditary neoplastic syndrome ⚠
p.Leu518Met Single submitter parathyroid gland carcinoma ⚠
p.Leu95Pro Single submitter Familial hyperparathyroidism or Hypocalciuric hypercalcaemia ⚠
p.Lys150= Single submitter hereditary neoplastic syndrome
p.Met412Ile Single submitter hereditary neoplastic syndrome ⚠
p.Met435Thr Single submitter hereditary neoplastic syndrome ⚠
p.Pro138Thr Single submitter hereditary neoplastic syndrome ⚠
p.Pro278= Single submitter hereditary neoplastic syndrome
p.Pro339Thr Single submitter parathyroid gland carcinoma ⚠
p.Pro84= Single submitter hereditary neoplastic syndrome
p.Ser178= Single submitter hereditary neoplastic syndrome
p.Ser6Gly Single submitter hereditary neoplastic syndrome ⚠
p.Val131Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val445Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val67= Single submitter hereditary neoplastic syndrome

Benign 29

c.1030+44G>A Multiple submitters
c.1067-108T>G Multiple submitters
c.1067-86C>T Multiple submitters
c.1154+144A>T Multiple submitters
c.1155-122C>G Multiple submitters
c.1317-114T>A Multiple submitters
c.1418-17C>G Multiple submitters parathyroid gland carcinoma
c.1418-67T>G Multiple submitters
c.237+28T>C Multiple submitters hyperparathyroidism 2 with jaw tumors
c.237+29_237+32del Multiple submitters
c.308-16C>A Multiple submitters parathyroid gland carcinoma
c.423+108G>A Multiple submitters
c.729+61T>A Multiple submitters
c.828+29A>T Multiple submitters
c.*2950A>G Multiple submitters hyperparathyroidism 1
c.1031-12del Single submitter parathyroid gland carcinoma
c.1031-12dup Single submitter parathyroid gland carcinoma
c.1066+13A>G Single submitter parathyroid gland carcinoma
c.1154+18C>G Single submitter parathyroid gland carcinoma
c.1155-6del Single submitter parathyroid gland carcinoma
c.1155-6dup Single submitter parathyroid gland carcinoma
c.1317-335T>G Single submitter
c.1560-4del Single submitter parathyroid gland carcinoma
c.308-11del Single submitter parathyroid gland carcinoma
c.423+297dup Single submitter
c.424-28A>G Single submitter
c.908-216G>A Single submitter
c.*3507G>T Single submitter hyperparathyroidism 1
c.*3786T>A Single submitter hyperparathyroidism 1

Benign/Likely benign 28

c.1560-4dup Multiple submitters parathyroid gland carcinoma
c.371-4A>G Multiple submitters parathyroid gland carcinoma
c.424-16C>T Multiple submitters parathyroid gland carcinoma
c.513-17A>C Multiple submitters parathyroid gland carcinoma
c.729+33GA[8] Multiple submitters
c.730-46A>G Multiple submitters
c.829-5dup Multiple submitters parathyroid gland carcinoma
c.908-4G>T Multiple submitters hereditary neoplastic syndrome
c.908-6dup Multiple submitters hereditary neoplastic syndrome
c.-10G>T Multiple submitters hyperparathyroidism 2 with jaw tumors
c.-4del Multiple submitters hereditary neoplastic syndrome
c.-95G>A Multiple submitters parathyroid gland carcinoma
c.*1267A>G Multiple submitters hyperparathyroidism 2 with jaw tumors
c.*12C>A Multiple submitters hyperparathyroidism 2 with jaw tumors
p.Asn291= Multiple submitters hereditary neoplastic syndrome
p.Gln395= Multiple submitters hyperparathyroidism 1
p.Lys393= Multiple submitters parathyroid gland carcinoma
p.Tyr11= Multiple submitters hereditary neoplastic syndrome
c.*1083A>T Single submitter hyperparathyroidism 1
c.*2085G>C Single submitter hyperparathyroidism 1
c.*2304T>G Single submitter hyperparathyroidism 1
c.*2427T>C Single submitter parathyroid gland carcinoma
c.*2677G>A Single submitter hyperparathyroidism 2 with jaw tumors
c.*3063G>A Single submitter hyperparathyroidism 1
c.*3524A>G Single submitter hyperparathyroidism 1
c.*3786T>C Single submitter hyperparathyroidism 1
c.*518A>G Single submitter hyperparathyroidism 1
c.*580A>T Single submitter hyperparathyroidism 1

Likely benign 716

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

c.1031-3C>T Multiple submitters hereditary neoplastic syndrome
c.1066+8T>C Multiple submitters hyperparathyroidism 2 with jaw tumors
c.1067-4A>G Multiple submitters parathyroid gland carcinoma
c.1067-4del Multiple submitters hereditary neoplastic syndrome
c.1154+20A>C Multiple submitters parathyroid gland carcinoma
c.1155-165A>G Multiple submitters
c.132-12T>A Multiple submitters parathyroid gland carcinoma
c.132-17T>G Multiple submitters hyperparathyroidism 1
c.1418-3T>C Multiple submitters hereditary neoplastic syndrome
c.1559+20A>G Multiple submitters hyperparathyroidism 1
c.370+17A>G Multiple submitters parathyroid gland carcinoma
c.371-4A>C Multiple submitters hereditary neoplastic syndrome
c.371-5T>C Multiple submitters hereditary neoplastic syndrome
c.730-14C>G Multiple submitters hyperparathyroidism 2 with jaw tumors
c.908-4G>A Multiple submitters hereditary neoplastic syndrome
c.908-5C>T Multiple submitters parathyroid gland carcinoma
c.908-6del Multiple submitters parathyroid gland carcinoma
p.Ala106= Multiple submitters hereditary neoplastic syndrome
p.Ala133= Multiple submitters hereditary neoplastic syndrome
p.Ala135= Multiple submitters parathyroid gland carcinoma
p.Ala184= Multiple submitters hereditary neoplastic syndrome
p.Ala207= Multiple submitters hereditary neoplastic syndrome
p.Ala216= Multiple submitters hereditary neoplastic syndrome
p.Ala258= Multiple submitters hereditary neoplastic syndrome
p.Ala274= Multiple submitters parathyroid gland carcinoma
p.Ala289= Multiple submitters parathyroid gland carcinoma
p.Ala327= Multiple submitters hereditary neoplastic syndrome
p.Ala329= Multiple submitters parathyroid gland carcinoma
p.Ala366= Multiple submitters hereditary neoplastic syndrome
p.Ala377= Multiple submitters hereditary neoplastic syndrome
p.Ala418= Multiple submitters hereditary neoplastic syndrome
p.Ala451= Multiple submitters hereditary neoplastic syndrome
p.Ala475= Multiple submitters parathyroid gland carcinoma
p.Arg110= Multiple submitters hereditary neoplastic syndrome
p.Arg147= Multiple submitters hereditary neoplastic syndrome
p.Arg152= Multiple submitters hereditary neoplastic syndrome
p.Arg229= Multiple submitters hereditary neoplastic syndrome
p.Arg263= Multiple submitters parathyroid gland carcinoma
p.Arg268= Multiple submitters hereditary neoplastic syndrome
p.Arg297= Multiple submitters parathyroid gland carcinoma
p.Arg358= Multiple submitters hereditary neoplastic syndrome
p.Arg426= Multiple submitters parathyroid gland carcinoma
p.Arg484= Multiple submitters parathyroid gland carcinoma
p.Arg520= Multiple submitters parathyroid gland carcinoma
p.Arg530= Multiple submitters hereditary neoplastic syndrome
p.Arg76= Multiple submitters hereditary neoplastic syndrome
p.Arg9= Multiple submitters parathyroid gland carcinoma
p.Arg91= Multiple submitters hereditary neoplastic syndrome
p.Asn12= Multiple submitters parathyroid gland carcinoma
p.Asn488= Multiple submitters hereditary neoplastic syndrome
p.Asn66= Multiple submitters hereditary neoplastic syndrome
p.Asp202= Multiple submitters parathyroid gland carcinoma
p.Asp203= Multiple submitters hereditary neoplastic syndrome
p.Asp294= Multiple submitters hereditary neoplastic syndrome
p.Asp3= Multiple submitters hereditary neoplastic syndrome
p.Asp429= Multiple submitters hereditary neoplastic syndrome
p.Asp438= Multiple submitters hereditary neoplastic syndrome
p.Asp463= Multiple submitters hereditary neoplastic syndrome
p.Asp481= Multiple submitters hereditary neoplastic syndrome
p.Asp507= Multiple submitters hereditary neoplastic syndrome
p.Asp58= Multiple submitters parathyroid gland carcinoma
p.Gln10= Multiple submitters hereditary neoplastic syndrome
p.Gln119= Multiple submitters parathyroid gland carcinoma
p.Gln166= Multiple submitters hereditary neoplastic syndrome
p.Gln254= Multiple submitters hereditary neoplastic syndrome
p.Gln284= Multiple submitters hereditary neoplastic syndrome
p.Gln346= Multiple submitters parathyroid gland carcinoma
p.Gln398= Multiple submitters hereditary neoplastic syndrome
p.Gln411= Multiple submitters parathyroid gland carcinoma
p.Gln430= Multiple submitters hereditary neoplastic syndrome
p.Gln453= Multiple submitters hereditary neoplastic syndrome
p.Glu143= Multiple submitters hereditary neoplastic syndrome
p.Glu144= Multiple submitters hereditary neoplastic syndrome
p.Glu158= Multiple submitters hereditary neoplastic syndrome
p.Glu168= Multiple submitters hereditary neoplastic syndrome
p.Glu175= Multiple submitters hereditary neoplastic syndrome
p.Glu180= Multiple submitters parathyroid gland carcinoma
p.Glu228= Multiple submitters parathyroid gland carcinoma
p.Glu266= Multiple submitters hereditary neoplastic syndrome
p.Glu29= Multiple submitters parathyroid gland carcinoma
p.Glu48= Multiple submitters hereditary neoplastic syndrome
p.Glu53= Multiple submitters hereditary neoplastic syndrome
p.Gly163= Multiple submitters hereditary neoplastic syndrome
p.Gly242= Multiple submitters hereditary neoplastic syndrome
p.Gly262= Multiple submitters parathyroid gland carcinoma
p.Gly28= Multiple submitters hereditary neoplastic syndrome
p.Gly396= Multiple submitters parathyroid gland carcinoma
p.Gly49= Multiple submitters hereditary neoplastic syndrome
p.His160= Multiple submitters hereditary neoplastic syndrome
p.His477= Multiple submitters hereditary neoplastic syndrome
p.His68= Multiple submitters hereditary neoplastic syndrome
p.His71= Multiple submitters hereditary neoplastic syndrome
p.Ile170= Multiple submitters hereditary neoplastic syndrome
p.Ile182= Multiple submitters hereditary neoplastic syndrome
p.Ile185= Multiple submitters parathyroid gland carcinoma
p.Ile237= Multiple submitters hereditary neoplastic syndrome
p.Ile26= Multiple submitters hereditary neoplastic syndrome
p.Ile364= Multiple submitters hereditary neoplastic syndrome
p.Ile405= Multiple submitters hereditary neoplastic syndrome
p.Ile83= Multiple submitters hereditary neoplastic syndrome
p.Leu132= Multiple submitters hereditary neoplastic syndrome
p.Leu148= Multiple submitters hereditary neoplastic syndrome
p.Leu157= Multiple submitters hereditary neoplastic syndrome
p.Leu173= Multiple submitters hyperparathyroidism 2 with jaw tumors
p.Leu280= Multiple submitters parathyroid gland carcinoma
p.Leu320= Multiple submitters hereditary neoplastic syndrome
p.Leu381= Multiple submitters hereditary neoplastic syndrome
p.Leu404= Multiple submitters hereditary neoplastic syndrome
p.Leu5= Multiple submitters hereditary neoplastic syndrome
p.Leu512= Multiple submitters hereditary neoplastic syndrome
p.Leu518= Multiple submitters hereditary neoplastic syndrome
p.Leu529= Multiple submitters parathyroid gland carcinoma
p.Leu63= Multiple submitters hereditary neoplastic syndrome
p.Leu64= Multiple submitters hereditary neoplastic syndrome
p.Leu8= Multiple submitters parathyroid gland carcinoma
p.Leu94= Multiple submitters hereditary neoplastic syndrome
p.Leu95= Multiple submitters hereditary neoplastic syndrome
p.Leu98= Multiple submitters hereditary neoplastic syndrome
p.Lys125= Multiple submitters hereditary neoplastic syndrome
p.Lys283= Multiple submitters hereditary neoplastic syndrome
p.Lys321= Multiple submitters parathyroid gland carcinoma
p.Lys34= Multiple submitters hereditary neoplastic syndrome
p.Lys37= Multiple submitters hereditary neoplastic syndrome
p.Lys385= Multiple submitters hereditary neoplastic syndrome
p.Lys392= Multiple submitters hereditary neoplastic syndrome
p.Lys394= Multiple submitters parathyroid gland carcinoma
p.Lys474= Multiple submitters hereditary neoplastic syndrome
p.Lys491= Multiple submitters hereditary neoplastic syndrome
p.Lys503= Multiple submitters parathyroid gland carcinoma
p.Lys524= Multiple submitters parathyroid gland carcinoma
p.Phe27= Multiple submitters hereditary neoplastic syndrome
p.Phe30= Multiple submitters hereditary neoplastic syndrome
p.Phe307= Multiple submitters hereditary neoplastic syndrome
p.Phe446= Multiple submitters hereditary neoplastic syndrome
p.Pro265= Multiple submitters hereditary neoplastic syndrome
p.Pro269= Multiple submitters hereditary neoplastic syndrome
p.Pro275= Multiple submitters parathyroid gland carcinoma
p.Pro285= Multiple submitters parathyroid gland carcinoma
p.Pro33= Multiple submitters hereditary neoplastic syndrome
p.Pro339= Multiple submitters hereditary neoplastic syndrome
p.Pro349= Multiple submitters parathyroid gland carcinoma
p.Pro360= Multiple submitters hereditary neoplastic syndrome
p.Pro365= Multiple submitters hereditary neoplastic syndrome
p.Pro388= Multiple submitters parathyroid gland carcinoma
p.Pro450= Multiple submitters parathyroid gland carcinoma
p.Pro458= Multiple submitters hereditary neoplastic syndrome
p.Pro487= Multiple submitters hereditary neoplastic syndrome
p.Pro509= Multiple submitters parathyroid gland carcinoma
p.Pro72= Multiple submitters parathyroid gland carcinoma
p.Ser103= Multiple submitters parathyroid gland carcinoma
p.Ser111= Multiple submitters hyperparathyroidism 1
p.Ser226= Multiple submitters hereditary neoplastic syndrome
p.Ser246= Multiple submitters hereditary neoplastic syndrome
p.Ser31= Multiple submitters parathyroid gland carcinoma
p.Ser389= Multiple submitters hereditary neoplastic syndrome
p.Ser527= Multiple submitters hereditary neoplastic syndrome
p.Ser6= Multiple submitters hereditary neoplastic syndrome
p.Ter532= Multiple submitters hereditary neoplastic syndrome
p.Thr104= Multiple submitters parathyroid gland carcinoma
p.Thr122= Multiple submitters hereditary neoplastic syndrome
p.Thr167= Multiple submitters hereditary neoplastic syndrome
p.Thr221= Multiple submitters parathyroid gland carcinoma
p.Thr233= Multiple submitters hereditary neoplastic syndrome
p.Thr241= Multiple submitters hereditary neoplastic syndrome
p.Thr304= Multiple submitters hereditary neoplastic syndrome
p.Thr311= Multiple submitters hereditary neoplastic syndrome
p.Thr319= Multiple submitters parathyroid gland carcinoma
p.Thr359= Multiple submitters hereditary neoplastic syndrome
p.Thr368= Multiple submitters parathyroid gland carcinoma
p.Thr373= Multiple submitters hereditary neoplastic syndrome
p.Thr38= Multiple submitters hereditary neoplastic syndrome
p.Thr45= Multiple submitters parathyroid gland carcinoma
p.Thr517= Multiple submitters parathyroid gland carcinoma
p.Thr56= Multiple submitters hereditary neoplastic syndrome
p.Tyr293= Multiple submitters parathyroid gland carcinoma
p.Tyr315= Multiple submitters hereditary neoplastic syndrome
p.Tyr425= Multiple submitters hereditary neoplastic syndrome
p.Tyr54= Multiple submitters parathyroid gland carcinoma
p.Val124= Multiple submitters hereditary neoplastic syndrome
p.Val131= Multiple submitters hereditary neoplastic syndrome
p.Val146= Multiple submitters hereditary neoplastic syndrome
p.Val165= Multiple submitters parathyroid gland carcinoma
p.Val19= Multiple submitters parathyroid gland carcinoma
p.Val20= Multiple submitters parathyroid gland carcinoma
p.Val218= Multiple submitters hereditary neoplastic syndrome
p.Val230= Multiple submitters parathyroid gland carcinoma
p.Val25= Multiple submitters hereditary neoplastic syndrome
p.Val256= Multiple submitters hereditary neoplastic syndrome
p.Val42= Multiple submitters hereditary neoplastic syndrome
p.Val428= Multiple submitters hereditary neoplastic syndrome
p.Val443= Multiple submitters hereditary neoplastic syndrome
p.Val447= Multiple submitters hereditary neoplastic syndrome
p.Val494= Multiple submitters hereditary neoplastic syndrome
p.Val496= Multiple submitters hereditary neoplastic syndrome
p.Val75= Multiple submitters parathyroid gland carcinoma
c.1030+10_1030+11del Single submitter parathyroid gland carcinoma
c.1030+10T>C Single submitter parathyroid gland carcinoma
c.1030+12G>A Single submitter parathyroid gland carcinoma
c.1030+12G>T Single submitter parathyroid gland carcinoma
c.1030+14A>C Single submitter parathyroid gland carcinoma
c.1030+14A>T Single submitter parathyroid gland carcinoma
c.1030+16T>C Single submitter parathyroid gland carcinoma
c.1030+19del Single submitter parathyroid gland carcinoma
c.1030+19G>A Single submitter parathyroid gland carcinoma
c.1030+20C>G Single submitter parathyroid gland carcinoma
c.1030+4G>T Single submitter parathyroid gland carcinoma
c.1030+7A>C Single submitter parathyroid gland carcinoma
c.1030+8T>G Single submitter parathyroid gland carcinoma
c.1030+9_1030+10insC Single submitter parathyroid gland carcinoma
c.1030+9A>G Single submitter parathyroid gland carcinoma
c.1031-10T>A Single submitter parathyroid gland carcinoma
c.1031-10T>C Single submitter parathyroid gland carcinoma
c.1031-10T>G Single submitter parathyroid gland carcinoma
c.1031-11_1031-10del Single submitter parathyroid gland carcinoma
c.1031-11C>G Single submitter
c.1031-18T>G Single submitter parathyroid gland carcinoma
c.1031-19T>C Single submitter parathyroid gland carcinoma
c.1031-20A>G Single submitter parathyroid gland carcinoma
c.1031-4A>G Single submitter parathyroid gland carcinoma
c.1031-7T>C Single submitter parathyroid gland carcinoma
c.1031-96_1031-95insL1 Single submitter hereditary neoplastic syndrome
c.1066+10T>C Single submitter parathyroid gland carcinoma
c.1066+11G>A Single submitter parathyroid gland carcinoma
c.1066+13A>C Single submitter parathyroid gland carcinoma
c.1066+17G>A Single submitter parathyroid gland carcinoma
c.1066+19T>C Single submitter parathyroid gland carcinoma
c.1066+3G>A Single submitter parathyroid gland carcinoma
c.1066+6G>T Single submitter parathyroid gland carcinoma
c.1066+9G>A Single submitter parathyroid gland carcinoma
c.1067-18T>A Single submitter parathyroid gland carcinoma
c.1067-19G>A Single submitter parathyroid gland carcinoma
c.1067-23A>T Single submitter
c.1067-4A>C Single submitter hereditary neoplastic syndrome
c.1067-8C>G Single submitter parathyroid gland carcinoma
c.1067-8C>T Single submitter parathyroid gland carcinoma
c.1067-9T>A Single submitter parathyroid gland carcinoma
c.1067-9T>C Single submitter parathyroid gland carcinoma
c.1154+10T>C Single submitter parathyroid gland carcinoma
c.1154+13T>C Single submitter parathyroid gland carcinoma
c.1154+14T>C Single submitter parathyroid gland carcinoma
c.1154+15A>G Single submitter parathyroid gland carcinoma
c.1154+17A>G Single submitter parathyroid gland carcinoma
c.1154+19T>G Single submitter parathyroid gland carcinoma
c.1154+20A>G Single submitter parathyroid gland carcinoma
c.1154+270G>A Single submitter
c.1154+7A>C Single submitter parathyroid gland carcinoma
c.1154+7A>G Single submitter parathyroid gland carcinoma
c.1154+8A>G Single submitter parathyroid gland carcinoma
c.1155-10T>G Single submitter parathyroid gland carcinoma
c.1155-12G>A Single submitter parathyroid gland carcinoma
c.1155-12G>C Single submitter parathyroid gland carcinoma
c.1155-14_1155-13del Single submitter parathyroid gland carcinoma
c.1155-14C>G Single submitter parathyroid gland carcinoma
c.1155-14C>T Single submitter parathyroid gland carcinoma
c.1155-166C>T Single submitter
c.1155-18A>G Single submitter parathyroid gland carcinoma
c.1155-19C>T Single submitter parathyroid gland carcinoma
c.1155-20T>A Single submitter parathyroid gland carcinoma
c.1155-79del Single submitter
c.1155-8T>C Single submitter parathyroid gland carcinoma
c.131+10G>T Single submitter parathyroid gland carcinoma
c.131+13T>C Single submitter parathyroid gland carcinoma
c.131+14G>C Single submitter parathyroid gland carcinoma
c.131+15G>T Single submitter parathyroid gland carcinoma
c.131+16C>A Single submitter parathyroid gland carcinoma
c.131+16C>T Single submitter parathyroid gland carcinoma
c.131+17dup Single submitter parathyroid gland carcinoma
c.131+17T>A Single submitter parathyroid gland carcinoma
c.131+17T>C Single submitter parathyroid gland carcinoma
c.131+7C>G Single submitter
c.131+7C>T Single submitter parathyroid gland carcinoma
c.131+8C>A Single submitter parathyroid gland carcinoma
c.131+8C>G Single submitter parathyroid gland carcinoma
c.131+8C>T Single submitter parathyroid gland carcinoma
c.131+9G>C Single submitter parathyroid gland carcinoma
c.131+9G>T Single submitter parathyroid gland carcinoma
c.1316+10T>A Single submitter parathyroid gland carcinoma
c.1316+10T>C Single submitter parathyroid gland carcinoma
c.1316+11C>G Single submitter parathyroid gland carcinoma
c.1316+11C>T Single submitter parathyroid gland carcinoma
c.1316+12T>G Single submitter parathyroid gland carcinoma
c.1316+13C>A Single submitter parathyroid gland carcinoma
c.1316+13C>G Single submitter parathyroid gland carcinoma
c.1316+13C>T Single submitter parathyroid gland carcinoma
c.1316+14del Single submitter parathyroid gland carcinoma
c.1316+14T>C Single submitter parathyroid gland carcinoma
c.1316+14TA[6] Single submitter parathyroid gland carcinoma
c.1316+15A>C Single submitter parathyroid gland carcinoma
c.1316+15A>G Single submitter parathyroid gland carcinoma
c.1316+17A>G Single submitter parathyroid gland carcinoma
c.1316+18del Single submitter parathyroid gland carcinoma
c.1316+18T>A Single submitter parathyroid gland carcinoma
c.1316+19A>G Single submitter parathyroid gland carcinoma
c.1316+20_1316+22del Single submitter parathyroid gland carcinoma
c.1316+8A>G Single submitter parathyroid gland carcinoma
c.1317-10C>G Single submitter parathyroid gland carcinoma
c.1317-14T>C Single submitter parathyroid gland carcinoma
c.1317-163A>G Single submitter
c.1317-16A>C Single submitter parathyroid gland carcinoma
c.1317-16A>G Single submitter parathyroid gland carcinoma

Uncertain significance 845

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

c.1316+4A>G Multiple submitters parathyroid gland carcinoma
c.132-13delinsAATTA Multiple submitters
c.1367_1417+426dup Multiple submitters hereditary neoplastic syndrome
c.370+3A>G Multiple submitters hereditary neoplastic syndrome
c.423+3A>G Multiple submitters hereditary neoplastic syndrome
c.512+3A>C Multiple submitters hereditary neoplastic syndrome
c.512+4A>C Multiple submitters hereditary neoplastic syndrome
c.729+1118A>G Multiple submitters hereditary neoplastic syndrome
c.828+4A>G Multiple submitters hereditary neoplastic syndrome
c.-2A>G Multiple submitters hyperparathyroidism 1
c.*2420A>C Multiple submitters hyperparathyroidism 1
p.Ala102Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala102Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala106Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala112Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala127Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala127Val Multiple submitters hyperparathyroidism 1 ⚠
p.Ala128Thr Multiple submitters parathyroid gland carcinoma ⚠
p.Ala133Gly Multiple submitters parathyroid gland carcinoma ⚠
p.Ala135Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala251Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala270Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala273Val Multiple submitters parathyroid gland carcinoma ⚠
p.Ala289Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala327Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala329Ser Multiple submitters parathyroid gland carcinoma ⚠
p.Ala336Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala337Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala377Thr Multiple submitters hyperparathyroidism 1 ⚠
p.Ala377Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala444Thr Multiple submitters parathyroid gland carcinoma ⚠
p.Arg120Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg120Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg139Gln Multiple submitters parathyroid gland carcinoma ⚠
p.Arg156Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg222Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg229Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg234Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg263Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg263His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg268Gln Multiple submitters CDC73-related disorder ⚠
p.Arg268Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg281His Multiple submitters hyperparathyroidism 1 ⚠
p.Arg281Leu Multiple submitters parathyroid gland carcinoma ⚠
p.Arg330Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg342Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg348Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg358Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg399Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg407Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg408Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg426Gly Multiple submitters parathyroid gland carcinoma ⚠
p.Arg441Cys Multiple submitters hyperparathyroidism 1 ⚠
p.Arg441Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg441His Multiple submitters parathyroid gland carcinoma ⚠
p.Arg484Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg484His Multiple submitters parathyroid gland carcinoma ⚠
p.Arg504Cys Multiple submitters parathyroid gland carcinoma ⚠
p.Arg513Gln Multiple submitters hyperparathyroidism 1 ⚠
p.Arg513Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg520Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg76Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg77His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg9Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn12His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn244Ser Multiple submitters parathyroid gland carcinoma ⚠
p.Asn272Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn272Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn291Ser Multiple submitters parathyroid gland carcinoma ⚠
p.Asn352Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn352Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn35Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn488Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn65His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn66Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn66del Multiple submitters parathyroid gland carcinoma
p.Asn99Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp129Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp200Gly Multiple submitters parathyroid gland carcinoma ⚠
p.Asp203Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp223Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp23Glu Multiple submitters hyperparathyroidism 1 ⚠
p.Asp294His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp379Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp390His Multiple submitters parathyroid gland carcinoma ⚠
p.Asp3Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp463Asn Multiple submitters parathyroid gland carcinoma ⚠
p.Asp463Tyr Multiple submitters hyperparathyroidism 2 with jaw tumors ⚠
p.Asp468Tyr Multiple submitters parathyroid gland carcinoma ⚠
p.Asp507Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp507Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys145Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys145Tyr Multiple submitters parathyroid gland carcinoma ⚠
p.Gln10Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln10Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln14Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln14Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln210Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln254Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln254His Multiple submitters parathyroid gland carcinoma ⚠
p.Gln284Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln284His Multiple submitters parathyroid gland carcinoma ⚠
p.Gln333Glu Multiple submitters parathyroid gland carcinoma ⚠
p.Gln338Pro Multiple submitters parathyroid gland carcinoma ⚠
p.Gln346His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln395Arg Multiple submitters parathyroid gland carcinoma ⚠
p.Gln395Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln398Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln398Leu Multiple submitters hyperparathyroidism 2 with jaw tumors ⚠
p.Gln398Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln411His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln411Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln413Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln437Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln490Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln490His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln50Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu134Gly Multiple submitters parathyroid gland carcinoma ⚠
p.Glu158Val Multiple submitters parathyroid gland carcinoma ⚠
p.Glu228Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu261del Multiple submitters hereditary neoplastic syndrome
p.Glu29Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu400Asp Multiple submitters parathyroid gland carcinoma ⚠
p.Glu482Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly100Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly100Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly22Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly22Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly28Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly306Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly326Ser Multiple submitters hyperparathyroidism 1 ⚠
p.Gly356Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly396Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly416Ala Multiple submitters parathyroid gland carcinoma ⚠
p.Gly416Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly49Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.His505Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His525Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His528_Leu529insTer Multiple submitters hereditary neoplastic syndrome
p.His528Tyr Multiple submitters hyperparathyroidism 2 with jaw tumors ⚠
p.Ile108Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile116Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile116Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile13Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile13Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile205Val Multiple submitters parathyroid gland carcinoma ⚠
p.Ile237Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile249Thr Multiple submitters parathyroid gland carcinoma ⚠
p.Ile252Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile26Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile286Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile362Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile363Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile419Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile469Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile469Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile60Val Multiple submitters parathyroid gland carcinoma ⚠
p.Leu114Phe Multiple submitters parathyroid gland carcinoma ⚠
p.Leu132Ile Multiple submitters parathyroid gland carcinoma ⚠
p.Leu371Ser Multiple submitters parathyroid gland carcinoma ⚠
p.Leu434Phe Multiple submitters parathyroid gland carcinoma ⚠
p.Leu460Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu5Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Leu69Phe Multiple submitters parathyroid gland carcinoma ⚠
p.Lys125Arg Multiple submitters parathyroid gland carcinoma ⚠
p.Lys16Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys209Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys21Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys243Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys283Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys283Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys308Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys308Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys37Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys385Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys394del Multiple submitters hereditary neoplastic syndrome
p.Lys409Arg Multiple submitters parathyroid gland carcinoma ⚠
p.Lys409Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys455Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys472Glu Multiple submitters parathyroid gland carcinoma ⚠
p.Lys474Arg Multiple submitters parathyroid gland carcinoma ⚠
p.Lys491Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Lys491Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Met177Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met374Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Met374Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met412Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Met412Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Met435Val Multiple submitters parathyroid gland carcinoma ⚠
p.Met522Val Multiple submitters parathyroid gland carcinoma ⚠
p.Phe245Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe27Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe298Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Phe511Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro138Ala Multiple submitters parathyroid gland carcinoma ⚠
p.Pro265Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro269Arg Multiple submitters parathyroid gland carcinoma ⚠
p.Pro271Ala Multiple submitters parathyroid gland carcinoma ⚠
p.Pro275Ser Multiple submitters parathyroid gland carcinoma ⚠
p.Pro285Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro287Leu Multiple submitters parathyroid gland carcinoma ⚠
p.Pro335Arg Multiple submitters parathyroid gland carcinoma ⚠
p.Pro335Ser Multiple submitters parathyroid gland carcinoma ⚠
p.Pro339Arg Multiple submitters parathyroid gland carcinoma ⚠
p.Pro339Leu Multiple submitters parathyroid gland carcinoma ⚠
p.Pro33Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro341Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro341Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro349Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro350Leu Multiple submitters parathyroid gland carcinoma ⚠
p.Pro350Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro360Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro360Ser Multiple submitters parathyroid gland carcinoma ⚠
p.Pro388Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro388Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro414Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro414Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro436Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro436Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro462Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro462Ser Multiple submitters hyperparathyroidism 1 ⚠
p.Pro466Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro487Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Pro509Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser103Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser105Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser107Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser107Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser226Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser31Phe Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser31Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser322Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser357Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser389Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser420Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser527Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ser6Ile Multiple submitters parathyroid gland carcinoma ⚠
p.Thr104Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr122Ala Multiple submitters hyperparathyroidism 1 ⚠
p.Thr241Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr241Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr282Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr282Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr282Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr304Met Multiple submitters parathyroid gland carcinoma ⚠
p.Thr324= Multiple submitters parathyroid gland carcinoma
p.Thr334Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr359Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr359Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr368Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr368Ile Multiple submitters hyperparathyroidism 1 ⚠
p.Thr369Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr38Asn Multiple submitters hyperparathyroidism 2 with jaw tumors ⚠
p.Thr403Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr417Ala Multiple submitters parathyroid gland carcinoma ⚠
p.Thr417Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr422Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr517Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr56Ile Multiple submitters parathyroid gland carcinoma ⚠
p.Thr56Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Thr80Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Trp492Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr40Cys Multiple submitters parathyroid gland carcinoma ⚠
p.Tyr425Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr480Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr501His Multiple submitters hereditary neoplastic syndrome ⚠
p.Tyr74Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Val146Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val19Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val20Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val220Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Val230Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val256Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val340Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val387Ile Multiple submitters hereditary neoplastic syndrome ⚠
p.Val442Ile Multiple submitters hyperparathyroidism 2 with jaw tumors ⚠
p.Val447Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val489Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val494Ile Multiple submitters hyperparathyroidism 1 ⚠
p.Val496Ile Multiple submitters parathyroid gland carcinoma ⚠
p.Val4Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val510Leu Multiple submitters parathyroid gland carcinoma ⚠
p.Val510Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Val523Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Val67Met Multiple submitters hereditary neoplastic syndrome ⚠
c.1030+5A>C Single submitter hereditary neoplastic syndrome
c.1030+6A>G Single submitter parathyroid gland carcinoma
c.1066+1G>C Single submitter hereditary neoplastic syndrome
c.1066+4A>G Single submitter parathyroid gland carcinoma
c.1066+6G>A Single submitter parathyroid gland carcinoma
c.1067-3T>A Single submitter parathyroid gland carcinoma
c.1067-3T>C Single submitter parathyroid gland carcinoma
c.1154+4del Single submitter parathyroid gland carcinoma
c.1154+9T>G Single submitter parathyroid gland carcinoma
c.1155-17T>G Single submitter parathyroid gland carcinoma
c.131+11_131+12delinsAC Single submitter parathyroid gland carcinoma
c.131+4A>T Single submitter hereditary neoplastic syndrome
c.1316+6A>T Single submitter parathyroid gland carcinoma
c.1317-10C>A Single submitter hyperparathyroidism 2 with jaw tumors
c.1317-4G>A Single submitter hereditary neoplastic syndrome