Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_003783.3(B3GALT2):c.367T>G (p.Tyr123Asp) | -1 | B3GALT2;CDC73 | Likely benign | rs41265203 | RCV000211442; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880 | 1 | 193150326 | 193150326 | A | C | 1:g.193150326A>C | ClinGen:CA1303641 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.4(CDC73):c.-190G>C | 79577 | CDC73 | Uncertain significance | rs886045709 | RCV000277791|RCV000332906|RCV000367696; | N | MONDO: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:99880 | 1 | 193091141 | 193091141 | G | C | NC_000001.10:g.193091141G>C | ClinGen:CA10608636 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.4(CDC73):c.-186C>G | 79577 | CDC73 | Uncertain significance | rs886045710 | RCV000269708|RCV000329460|RCV000382790; | N | MONDO: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 | 1 | 193091145 | 193091145 | C | G | NC_000001.10:g.193091145C>G | ClinGen:CA10608621 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.-167A>G | 79577 | CDC73 | Uncertain significance | rs1156904196 | RCV001101085|RCV001101086|RCV001101087; | N | 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:99879 | 1 | 193091164 | 193091164 | A | G | 1:g.193091164A>G | - | | |
NM_024529.5(CDC73):c.-143G>C | 79577 | CDC73 | Uncertain significance | rs778446879 | RCV000284491|RCV000340081|RCV000384069; | N | 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:99879 | 1 | 193091188 | 193091188 | G | C | NC_000001.10:g.193091188G>C | ClinGen:CA10608622 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.-135C>T | 79577 | CDC73 | Uncertain significance | rs1675456932 | RCV001097346|RCV001097345|RCV001097344; | N | 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 | 1 | 193091196 | 193091196 | C | T | 1:g.193091196C>T | - | | |
NM_024529.5(CDC73):c.-121G>A | 79577 | CDC73 | Uncertain significance | rs886045711 | RCV000336522|RCV000286159|RCV000380595; | N | MONDO: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:99880 | 1 | 193091210 | 193091210 | G | A | NC_000001.10:g.193091210G>A | ClinGen:CA10608623 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.-95G>A | 79577 | CDC73 | Benign/Likely benign | rs143969598 | RCV000282469|RCV000337618|RCV000394738; | N | MONDO: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:99880 | 1 | 193091236 | 193091236 | G | A | 1:g.193091236G>A | ClinGen:CA10608624 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.-30C>T | 79577 | CDC73 | Uncertain significance | rs770313192 | RCV000314585|RCV000394731|RCV000369313; | N | MONDO: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 | 1 | 193091301 | 193091301 | C | T | 1:g.193091301C>T | ClinGen:CA1303218 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.-4dup | 79577 | CDC73 | Conflicting interpretations of pathogenicity | rs545666726 | RCV000265031|RCV000306228|RCV000365849|RCV000401688|RCV000587300|RCV001023396|RCV001764251; | N | MedGen: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:C0027 | 1 | 193091319 | 193091320 | A | AG | 1:g.193091319_193091320insG | ClinGen:CA1303226 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.-11G>A | 79577 | CDC73 | Conflicting interpretations of pathogenicity | rs80356643 | RCV000020878|RCV001099195|RCV001099099; | N | 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:99879 | 1 | 193091320 | 193091320 | G | A | 1:g.193091320G>A | ClinGen:CA342364 | C0687150 608266 Parathyroid carcinoma; | |
NM_024529.5(CDC73):c.-10G>T | 79577 | CDC73 | Benign/Likely benign | rs188082584 | RCV000247723|RCV000271289|RCV000321566|RCV000357702|RCV000590347; | N | MedGen: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:CN51720 | 1 | 193091321 | 193091321 | G | T | NC_000001.10:g.193091321G>T | ClinGen:CA1303232 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.3G>A (p.Met1Ile) | 79577 | CDC73 | Pathogenic | rs28942098 | RCV000003424; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880 | 1 | 193091333 | 193091333 | G | A | 1:g.193091333G>A | ClinGen:CA252641,OMIM:607393.0001 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) | 79577 | CDC73 | Pathogenic | rs121434262 | RCV000003425; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880 | 1 | 193091355 | 193091355 | C | T | 1:g.193091355C>T | ClinGen:CA252644,OMIM:607393.0002 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.33C>T (p.Tyr11=) | 79577 | CDC73 | Benign/Likely benign | rs150951102 | RCV000267832|RCV000232276|RCV000372976|RCV001020200|RCV001729478|RCV000858076; | N | MONDO: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:D0093 | 1 | 193091363 | 193091363 | C | T | 1:g.193091363C>T | ClinGen:CA1303246 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.156A>G (p.Arg52=) | 79577 | CDC73 | Uncertain significance | rs886045712 | RCV000319509|RCV000278443|RCV000374190; | N | 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 | 1 | 193094266 | 193094266 | A | G | 1:g.193094266A>G | ClinGen:CA10609140 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.201G>A (p.Val67=) | 79577 | CDC73 | Conflicting interpretations of pathogenicity | rs752298916 | RCV000292768|RCV000350018|RCV000405673|RCV001014111; | N | MONDO: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:D0093 | 1 | 193094311 | 193094311 | G | A | 1:g.193094311G>A | ClinGen:CA1303282 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.238-1G>A | 79577 | CDC73 | Pathogenic | rs587776559 | RCV000003440; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880 | 1 | 193099303 | 193099303 | G | A | 1:g.193099303G>A | ClinGen:CA252656,OMIM:607393.0013 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.534A>G (p.Ser178=) | 79577 | CDC73 | Conflicting interpretations of pathogenicity | rs150365980 | RCV000609211|RCV000638125|RCV001097444|RCV001101193; | N | MedGen: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:99879 | 1 | 193111001 | 193111001 | A | G | 1:g.193111001A>G | ClinGen:CA1303421 | CN169374 not specified; | |
NM_024529.5(CDC73):c.659T>C (p.Val220Ala) | 79577 | CDC73 | Uncertain significance | rs886045713 | RCV000296231|RCV000344041|RCV000397786; | N | 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:99879 | 1 | 193111126 | 193111126 | T | C | 1:g.193111126T>C | ClinGen:CA10608625 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.679_680insAG (p.Arg227fs) | 79577 | CDC73 | Pathogenic | rs80356649 | RCV000003427|RCV000003428|RCV000664206; | N | MONDO: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 | 1 | 193111146 | 193111147 | A | AAG | 1:g.193111146_193111147insAG | ClinGen:CA252647,OMIM:607393.0004 | C1840402 145000 Hyperparathyroidism 1; | |
NM_024529.5(CDC73):c.834C>T (p.Pro278=) | 79577 | CDC73 | Uncertain significance | rs886045714 | RCV000308918|RCV000365879|RCV000399415; | N | 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:99879 | 1 | 193119439 | 193119439 | C | T | 1:g.193119439C>T | ClinGen:CA10609204 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.840G>A (p.Leu280=) | 79577 | CDC73 | Likely benign | rs10921320 | RCV000232164|RCV000267580|RCV000303106; | N | 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:99879 | 1 | 193119445 | 193119445 | G | A | NC_000001.10:g.193119445G>A | ClinGen:CA1303482 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) | 79577 | CDC73 | Uncertain significance | rs149875598 | RCV000468059|RCV001019869|RCV001543130; | N | Human 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 | 1 | 193172941 | 193172941 | G | A | NC_000001.10:g.193172941G>A | ClinGen:CA1303709 | C0687150 608266 Parathyroid carcinoma; | |
NM_024529.5(CDC73):c.1032T>G (p.Val344=) | 79577 | CDC73 | Benign/Likely benign | rs148612206 | RCV000234138|RCV000261802|RCV000315634|RCV000441371|RCV001009738; | N | 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:99879|MedGen:CN517202|MONDO:MONDO:00 | 1 | 193181196 | 193181196 | T | G | 1:g.193181196T>G | ClinGen:CA1303742 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.1066+8T>C | 79577 | CDC73 | Likely benign | rs80356647 | RCV000020879|RCV000211486; | N | Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880 | 1 | 193181238 | 193181238 | T | C | 1:g.193181238T>C | ClinGen:CA342365 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.1324G>A (p.Val442Ile) | 79577 | CDC73 | Uncertain significance | rs1677756402 | RCV001099300|RCV001099299|RCV001099301; | N | 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:99879 | 1 | 193205393 | 193205393 | G | A | 1:g.193205393G>A | - | | |
NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) | 79577 | CDC73 | Uncertain significance | rs368442389 | RCV000228358|RCV001011102|RCV001099302|RCV001101291|RCV001580090; | N | Human 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:C | 1 | 193205402 | 193205402 | G | A | NC_000001.10:g.193205402G>A | ClinGen:CA1303837 | C0687150 608266 Parathyroid carcinoma; | |
NM_024529.5(CDC73):c.1417+9C>T | 79577 | CDC73 | Conflicting interpretations of pathogenicity | rs769784756 | RCV000293572|RCV000319340|RCV000385428; | N | MONDO: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:143 | 1 | 193205495 | 193205495 | C | T | 1:g.193205495C>T | ClinGen:CA1303841 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.1418-10C>G | 79577 | CDC73 | Conflicting interpretations of pathogenicity | rs768713729 | RCV000289549|RCV000334014|RCV000381579; | N | MONDO: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 | 1 | 193218850 | 193218850 | C | G | 1:g.193218850C>G | ClinGen:CA1303865 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*12C>A | 79577 | CDC73 | Likely benign | rs193025205 | RCV000206613|RCV000346877|RCV000385126|RCV000438721|RCV000514805; | N | 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:CN169374|MedGen:CN51720 | 1 | 193219854 | 193219854 | C | A | 1:g.193219854C>A | ClinGen:CA350625 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*94A>G | 79577 | CDC73 | Uncertain significance | rs547969893 | RCV000306172|RCV000340727|RCV000396853; | N | 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:99879 | 1 | 193219936 | 193219936 | A | G | 1:g.193219936A>G | ClinGen:CA10608626 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*244T>A | 79577 | CDC73 | Uncertain significance | rs1678034707 | RCV001095847|RCV001095849|RCV001095848; | N | 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:99879 | 1 | 193220086 | 193220086 | T | A | 1:g.193220086T>A | - | | |
NM_024529.5(CDC73):c.*298A>T | 79577 | CDC73 | Uncertain significance | rs1678035186 | RCV001097647|RCV001097648|RCV001097649; | N | MONDO: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:143 | 1 | 193220140 | 193220140 | A | T | 1:g.193220140A>T | - | | |
NM_024529.5(CDC73):c.*453A>C | 79577 | CDC73 | Uncertain significance | rs547363180 | RCV000300277|RCV000335432|RCV000396865; | N | MONDO: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:143 | 1 | 193220295 | 193220295 | A | C | 1:g.193220295A>C | ClinGen:CA10609205 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*463A>G | 79577 | CDC73 | Uncertain significance | rs879039427 | RCV000274267|RCV000313039|RCV000357281; | N | MONDO: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:143 | 1 | 193220305 | 193220305 | A | G | 1:g.193220305A>G | ClinGen:CA10609143 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*518A>G | 79577 | CDC73 | Benign/Likely benign | rs190433473 | RCV000324994|RCV000276988|RCV000370080; | N | 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:99879 | 1 | 193220360 | 193220360 | A | G | 1:g.193220360A>G | ClinGen:CA10609145 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*580A>T | 79577 | CDC73 | Benign/Likely benign | rs191600804 | RCV000271062|RCV000328626|RCV000381885; | N | MONDO: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 | 1 | 193220422 | 193220422 | A | T | 1:g.193220422A>T | ClinGen:CA10608639 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*683G>A | 79577 | CDC73 | Uncertain significance | rs905879297 | RCV001099411|RCV001101400|RCV001101401; | N | 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:99879 | 1 | 193220525 | 193220525 | G | A | 1:g.193220525G>A | - | | |
NM_024529.5(CDC73):c.*937G>A | 79577 | CDC73 | Uncertain significance | rs886045715 | RCV000341496|RCV000284170|RCV000376322; | N | MONDO: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:99880 | 1 | 193220779 | 193220779 | G | A | 1:g.193220779G>A | ClinGen:CA10609149 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*948C>T | 79577 | CDC73 | Uncertain significance | rs761544591 | RCV001101402|RCV001101404|RCV001101403; | N | 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 | 1 | 193220790 | 193220790 | C | T | 1:g.193220790C>T | - | | |
NM_024529.5(CDC73):c.*956T>C | 79577 | CDC73 | Uncertain significance | rs886045716 | RCV000278362|RCV000335814|RCV000379827; | N | MONDO: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:99880 | 1 | 193220798 | 193220798 | T | C | 1:g.193220798T>C | ClinGen:CA10609152 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*972A>G | 79577 | CDC73 | Uncertain significance | rs886045717 | RCV000301082|RCV000348913|RCV000393273; | N | MONDO: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:99880 | 1 | 193220814 | 193220814 | A | G | 1:g.193220814A>G | ClinGen:CA10609206 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1056A>C | 79577 | CDC73 | Uncertain significance | rs548106852 | RCV000313882|RCV000362612|RCV000393290; | N | MONDO: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:143 | 1 | 193220898 | 193220898 | A | C | 1:g.193220898A>C | ClinGen:CA10608631 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1074A>T | 79577 | CDC73 | Uncertain significance | rs886045718 | RCV000270300|RCV000309136|RCV000366082; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MedGen:CN239442 | 1 | 193220916 | 193220916 | A | T | 1:g.193220916A>T | ClinGen:CA10608640 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1075A>G | 79577 | CDC73 | Uncertain significance | rs886045719 | RCV000321719|RCV000264254|RCV000378712; | N | 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 | 1 | 193220917 | 193220917 | A | G | NC_000001.10:g.193220917A>G | ClinGen:CA10609207 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1083A>T | 79577 | CDC73 | Benign/Likely benign | rs367704451 | RCV000267945|RCV000315729|RCV000372648; | N | MONDO: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:143 | 1 | 193220925 | 193220925 | A | T | NC_000001.10:g.193220925A>T | ClinGen:CA10609153 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1092A>G | 79577 | CDC73 | Uncertain significance | rs886045720 | RCV000280395|RCV000319112|RCV000385493; | N | 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 | 1 | 193220934 | 193220934 | A | G | NC_000001.10:g.193220934A>G | ClinGen:CA10609209 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1144dup | 79577 | CDC73 | Uncertain significance | rs538761780 | RCV000293464|RCV000350850|RCV000403456; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN239442|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143 | 1 | 193220974 | 193220975 | G | GT | NC_000001.10:g.193220986dup | ClinGen:CA10609154 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1132G>T | 79577 | CDC73 | Uncertain significance | rs1017988008 | RCV001099519|RCV001099518|RCV001099517; | N | MONDO: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:99880 | 1 | 193220974 | 193220974 | G | T | 1:g.193220974G>T | - | | |
NM_024529.5(CDC73):c.*1144del | 79577 | CDC73 | Uncertain significance | rs538761780 | RCV000288337|RCV000345682|RCV000397898; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MedGen:CN239442 | 1 | 193220975 | 193220975 | GT | G | NC_000001.10:g.193220986del | ClinGen:CA10609212 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1251A>G | 79577 | CDC73 | Uncertain significance | rs550417983 | RCV000310464|RCV000358230|RCV000397900; | N | 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 | 1 | 193221093 | 193221093 | A | G | NC_000001.10:g.193221093A>G | ClinGen:CA10608632 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1267A>G | 79577 | CDC73 | Benign/Likely benign | rs78218016 | RCV000260300|RCV000304477|RCV000361563|RCV001797075; | N | 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:CN517202 | 1 | 193221109 | 193221109 | A | G | NC_000001.10:g.193221109A>G | ClinGen:CA10609155 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1292C>T | 79577 | CDC73 | Uncertain significance | rs895043816 | RCV001101501|RCV001101502|RCV001101503; | N | MONDO: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 | 1 | 193221134 | 193221134 | C | T | 1:g.193221134C>T | - | | |
NM_024529.5(CDC73):c.*1296C>G | 79577 | CDC73 | Uncertain significance | rs1269411417 | RCV001096057|RCV001101504|RCV001101505; | N | 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 | 1 | 193221138 | 193221138 | C | G | 1:g.193221138C>G | - | | |
NM_024529.5(CDC73):c.*1303A>G | 79577 | CDC73 | Uncertain significance | rs886045723 | RCV000263905|RCV000317786|RCV000356304; | N | 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:99879 | 1 | 193221145 | 193221145 | A | G | NC_000001.10:g.193221145A>G | ClinGen:CA10609213 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1365T>C | 79577 | CDC73 | Uncertain significance | rs180929933 | RCV000295577|RCV000330484|RCV000387343; | N | MONDO: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:99880 | 1 | 193221207 | 193221207 | T | C | NC_000001.10:g.193221207T>C | ClinGen:CA10609156 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1442C>T | 79577 | CDC73 | Uncertain significance | rs1678053550 | RCV001096058|RCV001097820|RCV001097821; | N | MONDO: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:143 | 1 | 193221284 | 193221284 | C | T | 1:g.193221284C>T | - | | |
NM_024529.5(CDC73):c.*1472T>G | 79577 | CDC73 | Uncertain significance | rs576716003 | RCV000334158|RCV000289890|RCV000381978; | N | MONDO: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:143 | 1 | 193221314 | 193221314 | T | G | NC_000001.10:g.193221314T>G | ClinGen:CA10609157 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1499T>A | 79577 | CDC73 | Conflicting interpretations of pathogenicity | rs138503809 | RCV000284081|RCV000347066|RCV000403103; | N | MONDO: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:143 | 1 | 193221341 | 193221341 | T | A | NC_000001.10:g.193221341T>A | ClinGen:CA10609214 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1535A>G | 79577 | CDC73 | Uncertain significance | rs1011765527 | RCV001099625|RCV001099627|RCV001099626; | N | MONDO: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:99880 | 1 | 193221377 | 193221377 | A | G | 1:g.193221377A>G | - | | |
NM_024529.5(CDC73):c.*1599A>G | 79577 | CDC73 | Uncertain significance | rs543573271 | RCV000297115|RCV000341383|RCV000397053; | N | 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:99879 | 1 | 193221441 | 193221441 | A | G | NC_000001.10:g.193221441A>G | ClinGen:CA10609215 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1644C>T | 79577 | CDC73 | Uncertain significance | rs764317616 | RCV001099628|RCV001099629|RCV001101601; | N | 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 | 1 | 193221486 | 193221486 | C | T | 1:g.193221486C>T | - | | |
NM_024529.5(CDC73):c.*1660A>G | 79577 | CDC73 | Uncertain significance | rs1310867519 | RCV001101602|RCV001101603|RCV001101604; | N | MONDO: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 | 1 | 193221502 | 193221502 | A | G | 1:g.193221502A>G | - | | |
NM_024529.5(CDC73):c.*1761T>C | 79577 | CDC73 | Uncertain significance | rs528066706 | RCV000302338|RCV000354371|RCV000397046; | N | 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:99879 | 1 | 193221603 | 193221603 | T | C | NC_000001.10:g.193221603T>C | ClinGen:CA10608633 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1787A>G | 79577 | CDC73 | Uncertain significance | rs747621423 | RCV000271689|RCV000326742|RCV000366333; | N | MONDO: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 | 1 | 193221629 | 193221629 | A | G | NC_000001.10:g.193221629A>G | ClinGen:CA10608634 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1789G>A | 79577 | CDC73 | Uncertain significance | rs1323646186 | RCV001096180|RCV001096181|RCV001096182; | N | MONDO: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:143 | 1 | 193221631 | 193221631 | G | A | 1:g.193221631G>A | - | | |
NM_024529.5(CDC73):c.*1821G>T | 79577 | CDC73 | Uncertain significance | rs1678060916 | RCV001096183|RCV001096184|RCV001096185; | N | MONDO: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 | 1 | 193221663 | 193221663 | G | T | 1:g.193221663G>T | - | | |
NM_024529.5(CDC73):c.*1833A>G | 79577 | CDC73 | Conflicting interpretations of pathogenicity | rs150894778 | RCV000277534|RCV000332402|RCV000362691; | N | MONDO: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:143 | 1 | 193221675 | 193221675 | A | G | NC_000001.10:g.193221675A>G | ClinGen:CA10609216 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1858C>G | 79577 | CDC73 | Uncertain significance | rs886045724 | RCV000319619|RCV000273875|RCV000386882; | N | MONDO: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:99880 | 1 | 193221700 | 193221700 | C | G | NC_000001.10:g.193221700C>G | ClinGen:CA10608641 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1956T>C | 79577 | CDC73 | Uncertain significance | rs886045725 | RCV000279730|RCV000334775|RCV000374030; | N | 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:99879 | 1 | 193221798 | 193221798 | T | C | NC_000001.10:g.193221798T>C | ClinGen:CA10609158 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*1985T>A | 79577 | CDC73 | Uncertain significance | rs886045726 | RCV000340223|RCV000285164|RCV000379951; | N | 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 | 1 | 193221827 | 193221827 | T | A | NC_000001.10:g.193221827T>A | ClinGen:CA10608643 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2043A>T | 79577 | CDC73 | Uncertain significance | rs886045727 | RCV000346096|RCV000309837|RCV000405098; | N | MONDO: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 | 1 | 193221885 | 193221885 | A | T | NC_000001.10:g.193221885A>T | ClinGen:CA10608637 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2085G>C | 79577 | CDC73 | Benign/Likely benign | rs150030810 | RCV000306467|RCV000370516|RCV000396311; | N | 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:99879 | 1 | 193221927 | 193221927 | G | C | NC_000001.10:g.193221927G>C | ClinGen:CA10609217 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2131A>T | 79577 | CDC73 | Uncertain significance | rs886045728 | RCV000275359|RCV000311731|RCV000357189; | N | 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 | 1 | 193221973 | 193221973 | A | T | NC_000001.10:g.193221973A>T | ClinGen:CA10608638 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2304T>G | 79577 | CDC73 | Benign/Likely benign | rs144363422 | RCV000262372|RCV000317449|RCV000372114; | N | MONDO: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:143 | 1 | 193222146 | 193222146 | T | G | NC_000001.10:g.193222146T>G | ClinGen:CA10608644 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2420A>C | 79577 | CDC73 | Uncertain significance | rs536960020 | RCV000323229|RCV000268198|RCV000378280; | N | 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 | 1 | 193222262 | 193222262 | A | C | NC_000001.10:g.193222262A>C | ClinGen:CA10609220 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2427T>C | 79577 | CDC73 | Benign/Likely benign | rs372585994 | RCV000283774|RCV000348161|RCV000384130; | N | MONDO: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 | 1 | 193222269 | 193222269 | T | C | NC_000001.10:g.193222269T>C | ClinGen:CA10608645 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2446C>T | 79577 | CDC73 | Uncertain significance | rs572307472 | RCV000344674|RCV000289753|RCV000404182; | N | MONDO: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:143 | 1 | 193222288 | 193222288 | C | T | NC_000001.10:g.193222288C>T | ClinGen:CA10609159 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2455C>T | 79577 | CDC73 | Uncertain significance | rs886045729 | RCV000349496|RCV000314304|RCV000397784; | N | MONDO: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:99880 | 1 | 193222297 | 193222297 | C | T | NC_000001.10:g.193222297C>T | ClinGen:CA10609221 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2625A>G | 79577 | CDC73 | Uncertain significance | rs531872328 | RCV001098025|RCV001098026|RCV001098027; | N | 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:99879 | 1 | 193222467 | 193222467 | A | G | 1:g.193222467A>G | - | | |
NM_024529.5(CDC73):c.*2639C>G | 79577 | CDC73 | Uncertain significance | rs1361287206 | RCV001098028|RCV001099800|RCV001099801; | N | MONDO: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:143 | 1 | 193222481 | 193222481 | C | G | 1:g.193222481C>G | - | | |
NM_024529.5(CDC73):c.*2651T>G | 79577 | CDC73 | Uncertain significance | rs886045730 | RCV000260544|RCV000300501|RCV000355299; | N | MONDO: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:143 | 1 | 193222493 | 193222493 | T | G | NC_000001.10:g.193222493T>G | ClinGen:CA10608646 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2677G>A | 79577 | CDC73 | Benign/Likely benign | rs192018514 | RCV000267193|RCV000297048|RCV000361179; | N | 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 | 1 | 193222519 | 193222519 | G | A | 1:g.193222519G>A | ClinGen:CA10609229 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2801A>G | 79577 | CDC73 | Uncertain significance | rs999015399 | RCV001101792|RCV001101790|RCV001101791; | N | MONDO: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 | 1 | 193222643 | 193222643 | A | G | 1:g.193222643A>G | - | | |
NM_024529.5(CDC73):c.*2950A>G | 79577 | CDC73 | Benign | rs144681513 | RCV000322234|RCV000272930|RCV000358334; | N | MONDO: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:143 | 1 | 193222792 | 193222792 | A | G | 1:g.193222792A>G | ClinGen:CA10609234 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2962T>C | 79577 | CDC73 | Uncertain significance | rs147904515 | RCV000328058|RCV000288045|RCV000382506; | N | 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:99879 | 1 | 193222804 | 193222804 | T | C | 1:g.193222804T>C | ClinGen:CA10609160 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2963A>G | 79577 | CDC73 | Uncertain significance | rs886045731 | RCV000292579|RCV000333842|RCV000388262; | N | 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:99879 | 1 | 193222805 | 193222805 | A | G | 1:g.193222805A>G | ClinGen:CA10609237 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*2982T>C | 79577 | CDC73 | Uncertain significance | rs886045732 | RCV000279518|RCV000338244|RCV000401923; | N | MONDO: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:99880 | 1 | 193222824 | 193222824 | T | C | 1:g.193222824T>C | ClinGen:CA10608642 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3063G>A | 79577 | CDC73 | Benign/Likely benign | rs182545034 | RCV001096372|RCV001098116|RCV001098117; | N | MONDO: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:99880 | 1 | 193222905 | 193222905 | G | A | 1:g.193222905G>A | - | | |
NM_024529.5(CDC73):c.*3086C>T | 79577 | CDC73 | Uncertain significance | rs886045733 | RCV000334822|RCV000304353|RCV000395827; | N | MONDO: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:99880 | 1 | 193222928 | 193222928 | C | T | 1:g.193222928C>T | ClinGen:CA10608647 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3257A>G | 79577 | CDC73 | Uncertain significance | rs886045734 | RCV000309752|RCV000359156|RCV000395825; | N | MONDO: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:143 | 1 | 193223099 | 193223099 | A | G | 1:g.193223099A>G | ClinGen:CA10608648 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3266A>G | 79577 | CDC73 | Uncertain significance | rs532839308 | RCV000269978|RCV000325071|RCV000364555; | N | MONDO: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:99880 | 1 | 193223108 | 193223108 | A | G | 1:g.193223108A>G | ClinGen:CA10608651 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3342G>A | 79577 | CDC73 | Uncertain significance | rs1174982740 | RCV001099899|RCV001099900|RCV001099901; | N | 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:99879 | 1 | 193223184 | 193223184 | G | A | 1:g.193223184G>A | - | | |
NM_024529.5(CDC73):c.*3409_*3410del | 79577 | CDC73 | Uncertain significance | rs886045735 | RCV000276053|RCV000331090|RCV000370409; | N | Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN239442 | 1 | 193223248 | 193223249 | CTT | C | 1:g.193223248_193223249del | ClinGen:CA10609161 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3419T>A | 79577 | CDC73 | Uncertain significance | rs566373225 | RCV000318663|RCV000282420|RCV000386117; | N | MONDO: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:143 | 1 | 193223261 | 193223261 | T | A | 1:g.193223261T>A | ClinGen:CA10608652 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3507G>T | 79577 | CDC73 | Benign | rs151216299 | RCV000278652|RCV000343005|RCV000373333; | N | MONDO: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:99880 | 1 | 193223349 | 193223349 | G | T | 1:g.193223349G>T | ClinGen:CA10609162 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3524A>G | 79577 | CDC73 | Benign/Likely benign | rs548190260 | RCV000284606|RCV000339977|RCV000406259; | N | MONDO: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:99880 | 1 | 193223366 | 193223366 | A | G | 1:g.193223366A>G | ClinGen:CA10609163 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3542A>G | 79577 | CDC73 | Uncertain significance | rs886045736 | RCV000309474|RCV000364138|RCV000406643; | N | MONDO: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:143 | 1 | 193223384 | 193223384 | A | G | 1:g.193223384A>G | ClinGen:CA10609241 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3641G>A | 79577 | CDC73 | Likely benign | rs565579791 | RCV000315585|RCV000370143|RCV000395636; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN239442|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143 | 1 | 193223483 | 193223483 | G | A | 1:g.193223483G>A | ClinGen:CA10609242 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3695C>G | 79577 | CDC73 | Uncertain significance | rs1678098304 | RCV001096473|RCV001096475|RCV001096474; | N | MONDO: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:143 | 1 | 193223537 | 193223537 | C | G | 1:g.193223537C>G | - | | |
NM_024529.5(CDC73):c.*3714T>C | 79577 | CDC73 | Uncertain significance | rs886045737 | RCV000275634|RCV000300431|RCV000355236; | N | MONDO: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:143 | 1 | 193223556 | 193223556 | T | C | 1:g.193223556T>C | ClinGen:CA10608655 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3783C>T | 79577 | CDC73 | Uncertain significance | rs1337028451 | RCV001098222|RCV001098221|RCV001098223; | N | MONDO: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:143 | 1 | 193223625 | 193223625 | C | T | 1:g.193223625C>T | - | | |
NM_024529.5(CDC73):c.*3785A>G | 79577 | CDC73 | Uncertain significance | rs886045738 | RCV000315705|RCV000260463|RCV000379686; | N | MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880|MedGen:CN239442|Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143 | 1 | 193223627 | 193223627 | A | G | 1:g.193223627A>G | ClinGen:CA10609164 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3786T>A | 79577 | CDC73 | Benign | rs74130943 | RCV000268424|RCV000321158|RCV000378106; | N | MONDO: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:143 | 1 | 193223628 | 193223628 | T | A | 1:g.193223628T>A | ClinGen:CA10608658 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3786T>C | 79577 | CDC73 | Benign/Likely benign | rs74130943 | RCV000347922|RCV000290572|RCV000381409; | N | MONDO: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:143 | 1 | 193223628 | 193223628 | T | C | 1:g.193223628T>C | ClinGen:CA10608659 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3791T>C | 79577 | CDC73 | Uncertain significance | rs886045739 | RCV000351182|RCV000289402|RCV000405290; | N | MONDO: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:143 | 1 | 193223633 | 193223633 | T | C | NC_000001.10:g.193223633T>C | ClinGen:CA10609243 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3808TTG[1] | 79577 | CDC73 | Likely benign | rs143131672 | RCV000350099|RCV000311559|RCV000397718; | N | Human Phenotype Ontology:HP:0006780,MONDO:MONDO:0012004,MedGen:C0687150,OMIM:608266, Orphanet:143|MedGen:CN239442|MONDO:MONDO:0007768,MedGen:C1704981,OMIM:145001, Orphanet:99880 | 1 | 193223650 | 193223652 | TTTG | T | NC_000001.10:g.193223650TTG[1] | ClinGen:CA10608649 | C1704981 145001 Hyperparathyroidism 2; | |
NM_024529.5(CDC73):c.*3875A>G | 79577 | CDC73 | Uncertain significance | rs1678100975 | RCV001099992|RCV001099991|RCV001099993; | N | 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:99879 | 1 | 193223717 | 193223717 | A | G | 1:g.193223717A>G | - | | |
NM_024529.5(CDC73):c.*3887G>T | 79577 | CDC73 | Uncertain significance | rs1678101144 | RCV001099994|RCV001101984|RCV001101985; | N | 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:99879 | 1 | 193223729 | 193223729 | G | T | 1:g.193223729G>T | - | | |
Single allele | -1 | covers 20 genes, none of which | Pathogenic | -1 | RCV000677958; | N | MONDO: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:99880 | 1 | 191888324 | 194584888 | na | na | | - | C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive; | |