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Adenoma (D000236)
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Fibroma (D005350)
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Hyperparathyroidism (D006961)
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Jaw Neoplasms (D007573)
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Hyperparathyroidism 2 (C563273)

       Child Nodes:



 Sister Nodes: 
..expandGigantiform Cementoma, Familial (C563017)
..expandHyperparathyroidism 2 (C563273)
..expandMandibular Neoplasms (D008339) Child1
..expandMaxillary Neoplasms (D008441)
..expandPalatal Neoplasms (D010157)
..expandParathyroid Adenomatosis, Familial Cystic (C564165)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:5924
Name:Hyperparathyroidism 2
Definition:
Alternative IDs:OMIM:145001
ParentIDs:MESH:D000236|MESH:D005350|MESH:D006961|MESH:D007573
TreeNumbers:C04.557.450.565.590.340/C563273 |C04.557.470.035/C563273 |C04.588.149.721.450/C563273 |C05.116.231.754.450/C563273 |C05.500.499/C563273 |C07.320.515/C563273 |C19.642.355/C563273
Synonyms:Familial Cystic Parathyroid Adenomatosis |Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas |Hereditary Hyperparathyroidism-Jaw Tumor Syndrome |Hpt-Jt |HRPT2 |HYPERPARATHYROIDISM 2 WITH JAW TUMORS |Hyperparathyroidism, Familial Primary,
Slim Mappings:Cancer|Endocrine system disease|Mouth disease|Musculoskeletal disease
Reference: MedGen: C563273
MeSH: C563273
OMIM: 145001;
MSeqDR LSDB:  
Genes: CDC73; TBX4;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000234Abnormality of the head
3 HP:0010566Hamartoma
4 HP:0006781Hurthle cell thyroid adenoma
5 HP:0003072Hypercalcemia
6 HP:0000843Hyperparathyroidism
7 HP:0002667Nephroblastoma
8 HP:0000787Nephrolithiasis
9 HP:0006725Pancreatic adenocarcinoma
10 HP:0006766Papillary renal cell carcinoma
11 HP:0002897Parathyroid adenoma
12 HP:0006780Parathyroid carcinoma
13 HP:0000113Polycystic kidney dysplasia
14 HP:0100027Recurrent pancreatitis
15 HP:0006735Renal cortical adenoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp)-1B3GALT2;CDC73Likely benignrs41265203RCV000211442; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193150326193150326AC1:g.193150326A>CClinGen:CA1303641C1704981 145001 Hyperparathyroidism 2;
NM_024529.4(CDC73):c.-190G>C79577CDC73Uncertain significancers886045709RCV000277791|RCV000332906|RCV000367696; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193091141193091141GCNC_000001.10:g.193091141G>CClinGen:CA10608636C1704981 145001 Hyperparathyroidism 2;
NM_024529.4(CDC73):c.-186C>G79577CDC73Uncertain significancers886045710RCV000269708|RCV000329460|RCV000382790; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193091145193091145CGNC_000001.10:g.193091145C>GClinGen:CA10608621C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-167A>G79577CDC73Uncertain significancers1156904196RCV001101085|RCV001101086|RCV001101087; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193091164193091164AG1:g.193091164A>G-
NM_024529.5(CDC73):c.-143G>C79577CDC73Uncertain significancers778446879RCV000284491|RCV000340081|RCV000384069; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193091188193091188GCNC_000001.10:g.193091188G>CClinGen:CA10608622C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-135C>T79577CDC73Uncertain significancers1675456932RCV001097346|RCV001097345|RCV001097344; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193091196193091196CT1:g.193091196C>T-
NM_024529.5(CDC73):c.-121G>A79577CDC73Uncertain significancers886045711RCV000336522|RCV000286159|RCV000380595; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193091210193091210GANC_000001.10:g.193091210G>AClinGen:CA10608623C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-95G>A79577CDC73Benign/Likely benignrs143969598RCV000282469|RCV000337618|RCV000394738; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193091236193091236GA1:g.193091236G>AClinGen:CA10608624C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-30C>T79577CDC73Uncertain significancers770313192RCV000314585|RCV000394731|RCV000369313; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193091301193091301CT1:g.193091301C>TClinGen:CA1303218C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-4dup79577CDC73Conflicting interpretations of pathogenicityrs545666726RCV000265031|RCV000306228|RCV000365849|RCV000401688|RCV000587300|RCV001023396|RCV001764251; NMedGen:CN169374|MedGen:CN239442|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C00271193091319193091320AAG1:g.193091319_193091320insGClinGen:CA1303226C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.-11G>A79577CDC73Conflicting interpretations of pathogenicityrs80356643RCV000020878|RCV001099195|RCV001099099; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193091320193091320GA1:g.193091320G>AClinGen:CA342364C0687150 608266 Parathyroid carcinoma;
NM_024529.5(CDC73):c.-10G>T79577CDC73Benign/Likely benignrs188082584RCV000247723|RCV000271289|RCV000321566|RCV000357702|RCV000590347; NMedGen:CN169374|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN517201193091321193091321GTNC_000001.10:g.193091321G>TClinGen:CA1303232C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.3G>A (p.Met1Ile)79577CDC73Pathogenicrs28942098RCV000003424; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193091333193091333GA1:g.193091333G>AClinGen:CA252641,OMIM:607393.0001C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter)79577CDC73Pathogenicrs121434262RCV000003425; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193091355193091355CT1:g.193091355C>TClinGen:CA252644,OMIM:607393.0002C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)79577CDC73Benign/Likely benignrs150951102RCV000267832|RCV000232276|RCV000372976|RCV001020200|RCV001729478|RCV000858076; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0015356,MeSH:D00931193091363193091363CT1:g.193091363C>TClinGen:CA1303246C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.156A>G (p.Arg52=)79577CDC73Uncertain significancers886045712RCV000319509|RCV000278443|RCV000374190; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193094266193094266AG1:g.193094266A>GClinGen:CA10609140C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.201G>A (p.Val67=)79577CDC73Conflicting interpretations of pathogenicityrs752298916RCV000292768|RCV000350018|RCV000405673|RCV001014111; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0015356,MeSH:D00931193094311193094311GA1:g.193094311G>AClinGen:CA1303282C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.238-1G>A79577CDC73Pathogenicrs587776559RCV000003440; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193099303193099303GA1:g.193099303G>AClinGen:CA252656,OMIM:607393.0013C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.534A>G (p.Ser178=)79577CDC73Conflicting interpretations of pathogenicityrs150365980RCV000609211|RCV000638125|RCV001097444|RCV001101193; NMedGen:CN169374|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193111001193111001AG1:g.193111001A>GClinGen:CA1303421CN169374 not specified;
NM_024529.5(CDC73):c.659T>C (p.Val220Ala)79577CDC73Uncertain significancers886045713RCV000296231|RCV000344041|RCV000397786; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193111126193111126TC1:g.193111126T>CClinGen:CA10608625C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs)79577CDC73Pathogenicrs80356649RCV000003427|RCV000003428|RCV000664206; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193111146193111147AAAG1:g.193111146_193111147insAGClinGen:CA252647,OMIM:607393.0004C1840402 145000 Hyperparathyroidism 1;
NM_024529.5(CDC73):c.834C>T (p.Pro278=)79577CDC73Uncertain significancers886045714RCV000308918|RCV000365879|RCV000399415; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193119439193119439CT1:g.193119439C>TClinGen:CA10609204C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.840G>A (p.Leu280=)79577CDC73Likely benignrs10921320RCV000232164|RCV000267580|RCV000303106; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193119445193119445GANC_000001.10:g.193119445G>AClinGen:CA1303482C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln)79577CDC73Uncertain significancers149875598RCV000468059|RCV001019869|RCV001543130; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193172941193172941GANC_000001.10:g.193172941G>AClinGen:CA1303709C0687150 608266 Parathyroid carcinoma;
NM_024529.5(CDC73):c.1032T>G (p.Val344=)79577CDC73Benign/Likely benignrs148612206RCV000234138|RCV000261802|RCV000315634|RCV000441371|RCV001009738; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MedGen:CN517202|MONDO:MONDO:001193181196193181196TG1:g.193181196T>GClinGen:CA1303742C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.1066+8T>C79577CDC73Likely benignrs80356647RCV000020879|RCV000211486; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193181238193181238TC1:g.193181238T>CClinGen:CA342365C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile)79577CDC73Uncertain significancers1677756402RCV001099300|RCV001099299|RCV001099301; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193205393193205393GA1:g.193205393G>A-
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile)79577CDC73Uncertain significancers368442389RCV000228358|RCV001011102|RCV001099302|RCV001101291|RCV001580090; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1193205402193205402GANC_000001.10:g.193205402G>AClinGen:CA1303837C0687150 608266 Parathyroid carcinoma;
NM_024529.5(CDC73):c.1417+9C>T79577CDC73Conflicting interpretations of pathogenicityrs769784756RCV000293572|RCV000319340|RCV000385428; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193205495193205495CT1:g.193205495C>TClinGen:CA1303841C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.1418-10C>G79577CDC73Conflicting interpretations of pathogenicityrs768713729RCV000289549|RCV000334014|RCV000381579; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193218850193218850CG1:g.193218850C>GClinGen:CA1303865C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*12C>A79577CDC73Likely benignrs193025205RCV000206613|RCV000346877|RCV000385126|RCV000438721|RCV000514805; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN169374|MedGen:CN517201193219854193219854CA1:g.193219854C>AClinGen:CA350625C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*94A>G79577CDC73Uncertain significancers547969893RCV000306172|RCV000340727|RCV000396853; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193219936193219936AG1:g.193219936A>GClinGen:CA10608626C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*244T>A79577CDC73Uncertain significancers1678034707RCV001095847|RCV001095849|RCV001095848; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193220086193220086TA1:g.193220086T>A-
NM_024529.5(CDC73):c.*298A>T79577CDC73Uncertain significancers1678035186RCV001097647|RCV001097648|RCV001097649; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193220140193220140AT1:g.193220140A>T-
NM_024529.5(CDC73):c.*453A>C79577CDC73Uncertain significancers547363180RCV000300277|RCV000335432|RCV000396865; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193220295193220295AC1:g.193220295A>CClinGen:CA10609205C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*463A>G79577CDC73Uncertain significancers879039427RCV000274267|RCV000313039|RCV000357281; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193220305193220305AG1:g.193220305A>GClinGen:CA10609143C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*518A>G79577CDC73Benign/Likely benignrs190433473RCV000324994|RCV000276988|RCV000370080; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193220360193220360AG1:g.193220360A>GClinGen:CA10609145C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*580A>T79577CDC73Benign/Likely benignrs191600804RCV000271062|RCV000328626|RCV000381885; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193220422193220422AT1:g.193220422A>TClinGen:CA10608639C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*683G>A79577CDC73Uncertain significancers905879297RCV001099411|RCV001101400|RCV001101401; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193220525193220525GA1:g.193220525G>A-
NM_024529.5(CDC73):c.*937G>A79577CDC73Uncertain significancers886045715RCV000341496|RCV000284170|RCV000376322; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193220779193220779GA1:g.193220779G>AClinGen:CA10609149C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*948C>T79577CDC73Uncertain significancers761544591RCV001101402|RCV001101404|RCV001101403; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193220790193220790CT1:g.193220790C>T-
NM_024529.5(CDC73):c.*956T>C79577CDC73Uncertain significancers886045716RCV000278362|RCV000335814|RCV000379827; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193220798193220798TC1:g.193220798T>CClinGen:CA10609152C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*972A>G79577CDC73Uncertain significancers886045717RCV000301082|RCV000348913|RCV000393273; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193220814193220814AG1:g.193220814A>GClinGen:CA10609206C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1056A>C79577CDC73Uncertain significancers548106852RCV000313882|RCV000362612|RCV000393290; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193220898193220898AC1:g.193220898A>CClinGen:CA10608631C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1074A>T79577CDC73Uncertain significancers886045718RCV000270300|RCV000309136|RCV000366082; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MedGen:CN2394421193220916193220916AT1:g.193220916A>TClinGen:CA10608640C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1075A>G79577CDC73Uncertain significancers886045719RCV000321719|RCV000264254|RCV000378712; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193220917193220917AGNC_000001.10:g.193220917A>GClinGen:CA10609207C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1083A>T79577CDC73Benign/Likely benignrs367704451RCV000267945|RCV000315729|RCV000372648; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193220925193220925ATNC_000001.10:g.193220925A>TClinGen:CA10609153C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1092A>G79577CDC73Uncertain significancers886045720RCV000280395|RCV000319112|RCV000385493; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193220934193220934AGNC_000001.10:g.193220934A>GClinGen:CA10609209C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1144dup79577CDC73Uncertain significancers538761780RCV000293464|RCV000350850|RCV000403456; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN239442|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193220974193220975GGTNC_000001.10:g.193220986dupClinGen:CA10609154C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1132G>T79577CDC73Uncertain significancers1017988008RCV001099519|RCV001099518|RCV001099517; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193220974193220974GT1:g.193220974G>T-
NM_024529.5(CDC73):c.*1144del79577CDC73Uncertain significancers538761780RCV000288337|RCV000345682|RCV000397898; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MedGen:CN2394421193220975193220975GTGNC_000001.10:g.193220986delClinGen:CA10609212C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1251A>G79577CDC73Uncertain significancers550417983RCV000310464|RCV000358230|RCV000397900; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193221093193221093AGNC_000001.10:g.193221093A>GClinGen:CA10608632C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1267A>G79577CDC73Benign/Likely benignrs78218016RCV000260300|RCV000304477|RCV000361563|RCV001797075; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN5172021193221109193221109AGNC_000001.10:g.193221109A>GClinGen:CA10609155C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1292C>T79577CDC73Uncertain significancers895043816RCV001101501|RCV001101502|RCV001101503; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221134193221134CT1:g.193221134C>T-
NM_024529.5(CDC73):c.*1296C>G79577CDC73Uncertain significancers1269411417RCV001096057|RCV001101504|RCV001101505; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193221138193221138CG1:g.193221138C>G-
NM_024529.5(CDC73):c.*1303A>G79577CDC73Uncertain significancers886045723RCV000263905|RCV000317786|RCV000356304; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221145193221145AGNC_000001.10:g.193221145A>GClinGen:CA10609213C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1365T>C79577CDC73Uncertain significancers180929933RCV000295577|RCV000330484|RCV000387343; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193221207193221207TCNC_000001.10:g.193221207T>CClinGen:CA10609156C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1442C>T79577CDC73Uncertain significancers1678053550RCV001096058|RCV001097820|RCV001097821; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193221284193221284CT1:g.193221284C>T-
NM_024529.5(CDC73):c.*1472T>G79577CDC73Uncertain significancers576716003RCV000334158|RCV000289890|RCV000381978; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193221314193221314TGNC_000001.10:g.193221314T>GClinGen:CA10609157C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1499T>A79577CDC73Conflicting interpretations of pathogenicityrs138503809RCV000284081|RCV000347066|RCV000403103; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193221341193221341TANC_000001.10:g.193221341T>AClinGen:CA10609214C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1535A>G79577CDC73Uncertain significancers1011765527RCV001099625|RCV001099627|RCV001099626; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193221377193221377AG1:g.193221377A>G-
NM_024529.5(CDC73):c.*1599A>G79577CDC73Uncertain significancers543573271RCV000297115|RCV000341383|RCV000397053; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221441193221441AGNC_000001.10:g.193221441A>GClinGen:CA10609215C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1644C>T79577CDC73Uncertain significancers764317616RCV001099628|RCV001099629|RCV001101601; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193221486193221486CT1:g.193221486C>T-
NM_024529.5(CDC73):c.*1660A>G79577CDC73Uncertain significancers1310867519RCV001101602|RCV001101603|RCV001101604; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221502193221502AG1:g.193221502A>G-
NM_024529.5(CDC73):c.*1761T>C79577CDC73Uncertain significancers528066706RCV000302338|RCV000354371|RCV000397046; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221603193221603TCNC_000001.10:g.193221603T>CClinGen:CA10608633C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1787A>G79577CDC73Uncertain significancers747621423RCV000271689|RCV000326742|RCV000366333; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221629193221629AGNC_000001.10:g.193221629A>GClinGen:CA10608634C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1789G>A79577CDC73Uncertain significancers1323646186RCV001096180|RCV001096181|RCV001096182; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193221631193221631GA1:g.193221631G>A-
NM_024529.5(CDC73):c.*1821G>T79577CDC73Uncertain significancers1678060916RCV001096183|RCV001096184|RCV001096185; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221663193221663GT1:g.193221663G>T-
NM_024529.5(CDC73):c.*1833A>G79577CDC73Conflicting interpretations of pathogenicityrs150894778RCV000277534|RCV000332402|RCV000362691; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193221675193221675AGNC_000001.10:g.193221675A>GClinGen:CA10609216C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1858C>G79577CDC73Uncertain significancers886045724RCV000319619|RCV000273875|RCV000386882; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193221700193221700CGNC_000001.10:g.193221700C>GClinGen:CA10608641C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1956T>C79577CDC73Uncertain significancers886045725RCV000279730|RCV000334775|RCV000374030; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221798193221798TCNC_000001.10:g.193221798T>CClinGen:CA10609158C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*1985T>A79577CDC73Uncertain significancers886045726RCV000340223|RCV000285164|RCV000379951; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193221827193221827TANC_000001.10:g.193221827T>AClinGen:CA10608643C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2043A>T79577CDC73Uncertain significancers886045727RCV000346096|RCV000309837|RCV000405098; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221885193221885ATNC_000001.10:g.193221885A>TClinGen:CA10608637C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2085G>C79577CDC73Benign/Likely benignrs150030810RCV000306467|RCV000370516|RCV000396311; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193221927193221927GCNC_000001.10:g.193221927G>CClinGen:CA10609217C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2131A>T79577CDC73Uncertain significancers886045728RCV000275359|RCV000311731|RCV000357189; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193221973193221973ATNC_000001.10:g.193221973A>TClinGen:CA10608638C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2304T>G79577CDC73Benign/Likely benignrs144363422RCV000262372|RCV000317449|RCV000372114; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193222146193222146TGNC_000001.10:g.193222146T>GClinGen:CA10608644C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2420A>C79577CDC73Uncertain significancers536960020RCV000323229|RCV000268198|RCV000378280; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193222262193222262ACNC_000001.10:g.193222262A>CClinGen:CA10609220C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2427T>C79577CDC73Benign/Likely benignrs372585994RCV000283774|RCV000348161|RCV000384130; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193222269193222269TCNC_000001.10:g.193222269T>CClinGen:CA10608645C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2446C>T79577CDC73Uncertain significancers572307472RCV000344674|RCV000289753|RCV000404182; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193222288193222288CTNC_000001.10:g.193222288C>TClinGen:CA10609159C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2455C>T79577CDC73Uncertain significancers886045729RCV000349496|RCV000314304|RCV000397784; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193222297193222297CTNC_000001.10:g.193222297C>TClinGen:CA10609221C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2625A>G79577CDC73Uncertain significancers531872328RCV001098025|RCV001098026|RCV001098027; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193222467193222467AG1:g.193222467A>G-
NM_024529.5(CDC73):c.*2639C>G79577CDC73Uncertain significancers1361287206RCV001098028|RCV001099800|RCV001099801; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193222481193222481CG1:g.193222481C>G-
NM_024529.5(CDC73):c.*2651T>G79577CDC73Uncertain significancers886045730RCV000260544|RCV000300501|RCV000355299; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193222493193222493TGNC_000001.10:g.193222493T>GClinGen:CA10608646C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2677G>A79577CDC73Benign/Likely benignrs192018514RCV000267193|RCV000297048|RCV000361179; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193222519193222519GA1:g.193222519G>AClinGen:CA10609229C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2801A>G79577CDC73Uncertain significancers999015399RCV001101792|RCV001101790|RCV001101791; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193222643193222643AG1:g.193222643A>G-
NM_024529.5(CDC73):c.*2950A>G79577CDC73Benignrs144681513RCV000322234|RCV000272930|RCV000358334; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193222792193222792AG1:g.193222792A>GClinGen:CA10609234C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2962T>C79577CDC73Uncertain significancers147904515RCV000328058|RCV000288045|RCV000382506; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193222804193222804TC1:g.193222804T>CClinGen:CA10609160C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2963A>G79577CDC73Uncertain significancers886045731RCV000292579|RCV000333842|RCV000388262; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193222805193222805AG1:g.193222805A>GClinGen:CA10609237C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*2982T>C79577CDC73Uncertain significancers886045732RCV000279518|RCV000338244|RCV000401923; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193222824193222824TC1:g.193222824T>CClinGen:CA10608642C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3063G>A79577CDC73Benign/Likely benignrs182545034RCV001096372|RCV001098116|RCV001098117; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193222905193222905GA1:g.193222905G>A-
NM_024529.5(CDC73):c.*3086C>T79577CDC73Uncertain significancers886045733RCV000334822|RCV000304353|RCV000395827; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193222928193222928CT1:g.193222928C>TClinGen:CA10608647C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3257A>G79577CDC73Uncertain significancers886045734RCV000309752|RCV000359156|RCV000395825; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223099193223099AG1:g.193223099A>GClinGen:CA10608648C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3266A>G79577CDC73Uncertain significancers532839308RCV000269978|RCV000325071|RCV000364555; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193223108193223108AG1:g.193223108A>GClinGen:CA10608651C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3342G>A79577CDC73Uncertain significancers1174982740RCV001099899|RCV001099900|RCV001099901; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193223184193223184GA1:g.193223184G>A-
NM_024529.5(CDC73):c.*3409_*3410del79577CDC73Uncertain significancers886045735RCV000276053|RCV000331090|RCV000370409; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN2394421193223248193223249CTTC1:g.193223248_193223249delClinGen:CA10609161C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3419T>A79577CDC73Uncertain significancers566373225RCV000318663|RCV000282420|RCV000386117; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223261193223261TA1:g.193223261T>AClinGen:CA10608652C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3507G>T79577CDC73Benignrs151216299RCV000278652|RCV000343005|RCV000373333; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193223349193223349GT1:g.193223349G>TClinGen:CA10609162C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3524A>G79577CDC73Benign/Likely benignrs548190260RCV000284606|RCV000339977|RCV000406259; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193223366193223366AG1:g.193223366A>GClinGen:CA10609163C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3542A>G79577CDC73Uncertain significancers886045736RCV000309474|RCV000364138|RCV000406643; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223384193223384AG1:g.193223384A>GClinGen:CA10609241C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3641G>A79577CDC73Likely benignrs565579791RCV000315585|RCV000370143|RCV000395636; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN239442|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223483193223483GA1:g.193223483G>AClinGen:CA10609242C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3695C>G79577CDC73Uncertain significancers1678098304RCV001096473|RCV001096475|RCV001096474; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223537193223537CG1:g.193223537C>G-
NM_024529.5(CDC73):c.*3714T>C79577CDC73Uncertain significancers886045737RCV000275634|RCV000300431|RCV000355236; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223556193223556TC1:g.193223556T>CClinGen:CA10608655C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3783C>T79577CDC73Uncertain significancers1337028451RCV001098222|RCV001098221|RCV001098223; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223625193223625CT1:g.193223625C>T-
NM_024529.5(CDC73):c.*3785A>G79577CDC73Uncertain significancers886045738RCV000315705|RCV000260463|RCV000379686; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN239442|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223627193223627AG1:g.193223627A>GClinGen:CA10609164C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3786T>A79577CDC73Benignrs74130943RCV000268424|RCV000321158|RCV000378106; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223628193223628TA1:g.193223628T>AClinGen:CA10608658C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3786T>C79577CDC73Benign/Likely benignrs74130943RCV000347922|RCV000290572|RCV000381409; NMONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223628193223628TC1:g.193223628T>CClinGen:CA10608659C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3791T>C79577CDC73Uncertain significancers886045739RCV000351182|RCV000289402|RCV000405290; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:1431193223633193223633TCNC_000001.10:g.193223633T>CClinGen:CA10609243C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3808TTG[1]79577CDC73Likely benignrs143131672RCV000350099|RCV000311559|RCV000397718; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MedGen:CN239442|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801193223650193223652TTTGTNC_000001.10:g.193223650TTG[1]ClinGen:CA10608649C1704981 145001 Hyperparathyroidism 2;
NM_024529.5(CDC73):c.*3875A>G79577CDC73Uncertain significancers1678100975RCV001099992|RCV001099991|RCV001099993; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193223717193223717AG1:g.193223717A>G-
NM_024529.5(CDC73):c.*3887G>T79577CDC73Uncertain significancers1678101144RCV001099994|RCV001101984|RCV001101985; NHuman Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:998791193223729193223729GT1:g.193223729G>T-
Single allele-1covers 20 genes, none of whichPathogenic-1RCV000677958; NMONDO:MONDO:0007767,MedGen:C1840402,OMIM:145000, Orphanet:99879; Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143; MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:998801191888324194584888nana-C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
MSeqDR Portal