Total 161 pathogenic variants reported for Parathyroid carcinoma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_024529.5(CDC73):c.25C>T (p.Arg9Ter) SNV
Germline
Chr1:193122225 Pathogenic Hyperparathyroidism 2 with jaw tumors
Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA252644 rs_121434262

3 SubmittersRCV000003425RCV002426483RCV002512708

NM_024529.5(CDC73):c.128G>A (p.Trp43Ter) SNV
Germline/somatic
Chr1:193122328 Pathogenic Parathyroid carcinoma Criteria Provided
Multiple Submitters
No Conflicts
CA252648 rs_121434263

3 SubmittersRCV000003430

NM_024529.5(CDC73):c.191T>C (p.Leu64Pro) SNV
Germline
Chr1:193125171 Likely pathogenic Hyperparathyroidism 1
Parathyroid carcinoma
Criteria Provided
Single Submitter
CA252651 rs_121434264

2 SubmittersRCV000003431RCV001851616

NM_024529.5(CDC73):c.162C>G (p.Tyr54Ter) SNV
Germline/somatic
Chr1:193125142 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA252653 rs_121434265

2 SubmittersRCV000003433

NM_024529.5(CDC73):c.131+1G>A SNV
Germline/somatic
Chr1:193122332 Pathogenic/Likely pathogenic Hyperparathyroidism 1
Parathyroid adenoma, somatic
Parathyroid carcinoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Criteria Provided
Multiple Submitters
No Conflicts
CA116128 rs_587776558

6 SubmittersRCV000003435RCV000003436RCV001054064RCV000413007RCV002381237RCV002496245

NM_024529.5(CDC73):c.-11G>A SNV
Germline
Chr1:193122190 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Hyperparathyroidism
not specified
Criteria Provided
Conflicting Classifications
CA342364 rs_80356643

5 SubmittersRCV000020878RCV001099195RCV001099099RCV002466410RCV005229822

NM_024529.5(CDC73):c.1304T>C (p.Met435Thr) SNV
Germline
Chr1:193233142 Conflicting classifications of pathogenicity Condition: not provided
Parathyroid carcinoma
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Ovarian cancer
Hyperparathyroidism 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA215914 rs_202209013

7 SubmittersRCV000034781RCV000473561RCV002482952RCV003153326RCV003460547RCV002381287

NM_024529.5(CDC73):c.1149C>A (p.Asp383Glu) SNV
Germline
Chr1:193212472 Conflicting classifications of pathogenicity not specified
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hyperparathyroidism 1
Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Criteria Provided
Conflicting Classifications
CA157936 rs_587778167

6 SubmittersRCV000120493RCV000534419RCV002453441RCV004719699RCV004567042RCV005008021

NM_024529.5(CDC73):c.412C>A (p.Pro138Thr) SNV
Germline
Chr1:193135578 Conflicting classifications of pathogenicity not specified
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 1
Criteria Provided
Conflicting Classifications
CA157939 rs_369542555

5 SubmittersRCV000120494RCV000696033RCV002326820RCV004567043

NM_024529.5(CDC73):c.131+4A>G SNV
Germline
Chr1:193122335 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10581759 rs_878855089

2 SubmittersRCV000234594RCV003165647

NM_024529.5(CDC73):c.1333G>A (p.Val445Ile) SNV
Germline
Chr1:193236272 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Condition: not provided
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Criteria Provided
Conflicting Classifications
CA1303837 rs_368442389

9 SubmittersRCV000228358RCV001011102RCV001099302RCV001101291RCV001580090RCV002487085

NM_024529.5(CDC73):c.226C>T (p.Arg76Ter) SNV
Germline
Chr1:193125206 Pathogenic Condition: not provided
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10602771 rs_886041158

3 SubmittersRCV000398502RCV001203213RCV004021055

NM_024529.5(CDC73):c.355C>T (p.Gln119Ter) SNV
Germline
Chr1:193135438 Pathogenic Condition: not provided
Parathyroid carcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA10602772 rs_886041278

2 SubmittersRCV000341460RCV001381894

NM_024529.5(CDC73):c.201G>A (p.Val67=) SNV
Germline
Chr1:193125181 Conflicting classifications of pathogenicity Hyperparathyroidism 2 with jaw tumors
Parathyroid carcinoma
Hyperparathyroidism 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1303282 rs_752298916

4 SubmittersRCV000292768RCV000350018RCV000405673RCV001014111RCV004567845

NM_024529.5(CDC73):c.1417+9C>T SNV
Germline
Chr1:193236365 Conflicting classifications of pathogenicity Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA1303841 rs_769784756

2 SubmittersRCV000293572RCV000319340RCV000385428

NM_024529.5(CDC73):c.156A>G (p.Arg52=) SNV
Germline
Chr1:193125136 Conflicting classifications of pathogenicity Hyperparathyroidism 1
Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA10609140 rs_886045712

2 SubmittersRCV000278443RCV000319509RCV000374190RCV003165792

NM_024529.5(CDC73):c.834C>T (p.Pro278=) SNV
Germline
Chr1:193150309 Conflicting classifications of pathogenicity Hyperparathyroidism 2 with jaw tumors
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 1
Criteria Provided
Conflicting Classifications
CA10609204 rs_886045714

3 SubmittersRCV000365879RCV000308918RCV002436132RCV000399415

NM_024529.5(CDC73):c.1418-10C>G SNV
Germline
Chr1:193249720 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Criteria Provided
Conflicting Classifications
CA1303865 rs_768713729

2 SubmittersRCV000334014RCV000381579RCV000289549

NM_024529.5(CDC73):c.*1499T>A SNV
Germline
Chr1:193252211 Conflicting classifications of pathogenicity Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA10609214 rs_138503809

1 SubmittersRCV000284081RCV000347066RCV000403103

NM_024529.5(CDC73):c.*1833A>G SNV
Germline
Chr1:193252545 Conflicting classifications of pathogenicity Hyperparathyroidism 1
Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Criteria Provided
Conflicting Classifications
CA10609216 rs_150894778

1 SubmittersRCV000277534RCV000362691RCV000332402

NM_024529.5(CDC73):c.188T>C (p.Leu63Pro) SNV
Germline
Chr1:193125168 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA16609951 rs_1060500015

1 SubmittersRCV000472304

NM_024529.5(CDC73):c.680G>A (p.Arg227Lys) SNV
Germline
Chr1:193142017 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hyperparathyroidism 1
Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303433 rs_145694828

5 SubmittersRCV000462580RCV002506088RCV004567937RCV002365583

NM_024529.5(CDC73):c.729+1G>T SNV
Germline
Chr1:193142067 Likely pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA16609963 rs_1060500012

1 SubmittersRCV000473101

NM_024529.5(CDC73):c.1137C>G (p.Asp379Glu) SNV
Germline
Chr1:193212460 Conflicting classifications of pathogenicity Parathyroid carcinoma
Condition: not provided
Hyperparathyroidism 1
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA1303777 rs_774536123

5 SubmittersRCV000474303RCV003151770RCV003463837RCV002451061RCV004596182

NM_024529.5(CDC73):c.1011C>T (p.Ala337=) SNV
Germline
Chr1:193203833 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1303712 rs_372567546

5 SubmittersRCV000469848RCV001097535RCV001016998RCV001097534RCV003418208

NM_024529.5(CDC73):c.237+1G>C SNV
Germline
Chr1:193125218 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA16609972 rs_794727303

1 SubmittersRCV000465715

NM_024529.5(CDC73):c.989G>A (p.Arg330Gln) SNV
Germline
Chr1:193203811 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA1303709 rs_149875598

6 SubmittersRCV000468059RCV001019869RCV002473006RCV003463838RCV001543130RCV005010334

NM_024529.5(CDC73):c.1031-5C>T SNV
Germline
Chr1:193212060 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303739 rs_746118697

3 SubmittersRCV000458801RCV001009756

NM_024529.5(CDC73):c.1081A>G (p.Ile361Val) SNV
Germline
Chr1:193212404 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1303769 rs_776519655

4 SubmittersRCV000476915RCV002429466RCV002480338RCV003144265

NM_024529.5(CDC73):c.1155-3A>G SNV
Germline
Chr1:193232990 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16609982 rs_1060500014

3 SubmittersRCV000464787RCV002365584RCV001805057

NM_024529.5(CDC73):c.85G>T (p.Glu29Ter) SNV
Germline
Chr1:193122285 Pathogenic Parathyroid carcinoma
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA343972911 rs_1131691698

2 SubmittersRCV001060944RCV000493922

NM_024529.5(CDC73):c.423+1G>A SNV
Germline
Chr1:193135590 Pathogenic Condition: not provided
Parathyroid carcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA343960811 rs_1131691732

2 SubmittersRCV000494022RCV001379679

NM_024529.5(CDC73):c.505C>T (p.Gln169Ter) SNV
Germline
Chr1:193138166 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343961378 rs_1553279088

1 SubmittersRCV000526998

NM_024529.5(CDC73):c.376C>T (p.Arg126Ter) SNV
Germline
Chr1:193135542 Pathogenic/Likely pathogenic Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA343960611 rs_1553278844

3 SubmittersRCV000550505RCV002350233RCV002282213

NM_024529.5(CDC73):c.391G>A (p.Val131Ile) SNV
Germline
Chr1:193135557 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA34369428 rs_769052041

2 SubmittersRCV000558485RCV001021438

NM_024529.5(CDC73):c.1236G>A (p.Met412Ile) SNV
Germline
Chr1:193233074 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Hyperparathyroidism 1
Criteria Provided
Conflicting Classifications
CA1303805 rs_757006970

5 SubmittersRCV000559332RCV002367831RCV003318589RCV002506324RCV003459224

NM_024529.5(CDC73):c.1418-4A>G SNV
Germline
Chr1:193249726 Conflicting classifications of pathogenicity Condition: not provided
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
CDC73-related disorder
Criteria Provided
Conflicting Classifications
CA528018890 rs_1269877061

4 SubmittersRCV000592956RCV001084007RCV002395517RCV004543318

NM_024529.5(CDC73):c.534A>G (p.Ser178=) SNV
Germline
Chr1:193141871 Conflicting classifications of pathogenicity not specified
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303421 rs_150365980

4 SubmittersRCV000609211RCV000638125RCV001101193RCV001097444RCV002343146

NM_024529.5(CDC73):c.815A>G (p.Asn272Ser) SNV
Germline
Chr1:193147952 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303465 rs_752383339

3 SubmittersRCV000638113RCV005010619RCV002420717

NM_024529.5(CDC73):c.1574A>G (p.His525Arg) SNV
Germline
Chr1:193250690 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA35103495 rs_188778681

2 SubmittersRCV000638115RCV002388050

NM_024529.5(CDC73):c.648T>A (p.Ala216=) SNV
Germline
Chr1:193141985 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA1303426 rs_143149579

3 SubmittersRCV000638117RCV002358796RCV002483814

NM_024529.5(CDC73):c.1A>G (p.Met1Val) SNV
Germline
Chr1:193122201 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343972722 rs_1558276054

1 SubmittersRCV000706820

NM_024529.5(CDC73):c.876A>G (p.Arg292=) SNV
Germline
Chr1:193150351 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 2 with jaw tumors
Criteria Provided
Conflicting Classifications
CA34379488 rs_909578765

3 SubmittersRCV000705474RCV002369960RCV003444652

NM_024529.5(CDC73):c.138A>T (p.Gly46=) SNV
Germline
Chr1:193125118 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA422349973 rs_1572142522

3 SubmittersRCV000808839RCV002390621RCV002495111

NM_024529.5(CDC73):c.358C>T (p.Arg120Ter) SNV
Germline
Chr1:193135441 Pathogenic Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA343960494 rs_1572150469

2 SubmittersRCV000795507RCV002458429

NM_024529.5(CDC73):c.664C>T (p.Arg222Ter) SNV
Germline
Chr1:193142001 Pathogenic Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Parathyroid carcinoma
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA343962714 rs_770439843

4 SubmittersRCV000815729RCV002363129RCV002507424RCV003223680

NM_024529.5(CDC73):c.1248C>T (p.Gly416=) SNV
Germline
Chr1:193233086 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1303806 rs_780906083

4 SubmittersRCV000806762RCV002390613RCV002495103RCV003317375

NM_024529.5(CDC73):c.1066+5G>A SNV
Germline
Chr1:193212105 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Criteria Provided
Conflicting Classifications
CA35098868 rs_1018448425

3 SubmittersRCV000804983RCV002406794RCV002495096

NM_024529.5(CDC73):c.512+5G>C SNV
Germline
Chr1:193138178 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA34370739 rs_557303948

2 SubmittersRCV000819617RCV005532777

NM_024529.5(CDC73):c.72A>G (p.Glu24=) SNV
Germline
Chr1:193122272 Conflicting classifications of pathogenicity Condition: not provided
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Criteria Provided
Conflicting Classifications
CA422348795 rs_1572139792

2 SubmittersRCV000937268RCV005012399

NM_024529.5(CDC73):c.513-8G>T SNV
Germline
Chr1:193141842 Conflicting classifications of pathogenicity Parathyroid carcinoma
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Criteria Provided
Conflicting Classifications
CA1303418 rs_757366134

2 SubmittersRCV000964731RCV005012403

NM_024529.5(CDC73):c.237+1G>A SNV
Germline
Chr1:193125218 Pathogenic Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA343973259 rs_794727303

2 SubmittersRCV001015315RCV003607377

NM_024529.5(CDC73):c.271C>T (p.Arg91Ter) SNV
Germline
Chr1:193130207 Pathogenic Parathyroid carcinoma
Familial cancer of breast
Hyperparathyroidism 1
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA343973341 rs_1558280170

5 SubmittersRCV001049577RCV001310104RCV001198546RCV005012486RCV005306243

NM_024529.5(CDC73):c.450A>G (p.Lys150=) SNV
Germline
Chr1:193138111 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA1303395 rs_779144943

3 SubmittersRCV001047622RCV002339240RCV002481937

NM_024529.5(CDC73):c.973-6T>C SNV
Germline
Chr1:193203789 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Parathyroid carcinoma
Hyperparathyroidism 1
Criteria Provided
Conflicting Classifications
CA916081293 rs_1677131770

2 SubmittersRCV001041484RCV005012470

NM_024529.5(CDC73):c.1560G>A (p.Arg520=) SNV
Germline
Chr1:193250676 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA422492640 rs_1487870537

2 SubmittersRCV002402707RCV001225349

NM_024529.5(CDC73):c.64G>T (p.Gly22Ter) SNV
Germline
Chr1:193122264 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343972863 rs_1675465013

1 SubmittersRCV001241910

NM_024529.5(CDC73):c.157G>T (p.Glu53Ter) SNV
Germline
Chr1:193125137 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343973083 rs_1675541893

1 SubmittersRCV001245622

NM_024529.5(CDC73):c.700C>T (p.Arg234Ter) SNV
Germline
Chr1:193142037 Pathogenic Condition: not provided
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA343962795 rs_1675915231

3 SubmittersRCV001269979RCV001880200RCV004601428

NM_024529.5(CDC73):c.841C>T (p.Arg281Cys) SNV
Germline
Chr1:193150316 Conflicting classifications of pathogenicity Parathyroid carcinoma
not specified
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303483 rs_754070093

3 SubmittersRCV001296246RCV002241692RCV002447265

NM_024529.5(CDC73):c.972+3A>G SNV
Germline
Chr1:193152447 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1216126714 rs_1676130958

2 SubmittersRCV001337522RCV002384448

NM_024529.5(CDC73):c.1418-3T>C SNV
Germline
Chr1:193249727 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1216170283 rs_1678015232

2 SubmittersRCV001350523RCV004036627

NM_024529.5(CDC73):c.116A>G (p.Asn39Ser) SNV
Germline
Chr1:193122316 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA1303255 rs_746972930

3 SubmittersRCV001363508RCV002329368RCV005005883

NM_024529.5(CDC73):c.341T>A (p.Leu114Ter) SNV
Germline
Chr1:193135424 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343960416 rs_2103121496

1 SubmittersRCV001384828

NM_024529.5(CDC73):c.415C>T (p.Arg139Ter) SNV
Germline
Chr1:193135581 Pathogenic Parathyroid carcinoma
Condition: not provided
Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA343960775 rs_2103121721

4 SubmittersRCV001388080RCV001820087RCV005005923RCV002329408

NM_024529.5(CDC73):c.802C>T (p.Arg268Ter) SNV
Germline
Chr1:193147939 Pathogenic/Likely pathogenic Condition: not provided
Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Hyperparathyroidism 1
Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hyperparathyroidism 1
Criteria Provided
Multiple Submitters
No Conflicts
CA343964144 rs_2103130589

5 SubmittersRCV001556951RCV001882642RCV002421192RCV005005963RCV003463051

NM_024529.5(CDC73):c.1195C>T (p.Arg399Ter) SNV
Germline
Chr1:193233033 Pathogenic/Likely pathogenic Parathyroid carcinoma
Hyperparathyroidism 2 with jaw tumors
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA344077798 rs_1677688362

3 SubmittersRCV002014473RCV002290811RCV004946930

NM_024529.5(CDC73):c.1453C>G (p.Leu485Val) SNV
Germline
Chr1:193249765 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303868 rs_761968225

3 SubmittersRCV001920496RCV002255701

NM_024529.5(CDC73):c.305C>T (p.Ala102Val) SNV
Germline
Chr1:193130241 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303306 rs_778134705

2 SubmittersRCV002013531RCV002443040

NM_024529.5(CDC73):c.628C>T (p.Gln210Ter) SNV
Germline
Chr1:193141965 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343962584 rs_2103126265

1 SubmittersRCV001876593

NM_024529.5(CDC73):c.238-8G>A SNV
Germline
Chr1:193130166 Likely pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA2573131349 rs_2103117753

1 SubmittersRCV001964199

NM_024529.5(CDC73):c.1072C>T (p.Arg358Ter) SNV
Germline
Chr1:193212395 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA1303765 rs_771907995

1 SubmittersRCV001908472

NM_024529.5(CDC73):c.284T>C (p.Leu95Pro) SNV
Germline
Chr1:193130220 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA343973371 rs_2103117916

2 SubmittersRCV002045038RCV005308671

NM_024529.5(CDC73):c.131+1G>T SNV
Germline
Chr1:193122332 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343973017 rs_587776558

1 SubmittersRCV001962988

NM_024529.5(CDC73):c.406A>T (p.Lys136Ter) SNV
Germline
Chr1:193135572 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343960738 rs_2103121703

1 SubmittersRCV001972723

NM_024529.5(CDC73):c.496C>T (p.Gln166Ter) SNV
Germline
Chr1:193138157 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343961330 rs_2103123807

1 SubmittersRCV001949344

NM_024529.5(CDC73):c.1511G>A (p.Arg504His) SNV
Germline
Chr1:193249823 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303870 rs_759222387

2 SubmittersRCV001944337RCV003167370

NM_024529.5(CDC73):c.1012C>T (p.Gln338Ter) SNV
Germline
Chr1:193203834 Pathogenic Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA344076156 rs_2103178097

2 SubmittersRCV001887696RCV003164059

NM_024529.5(CDC73):c.238-5T>C SNV
Germline
Chr1:193130169 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA2573131350 rs_2103117757

2 SubmittersRCV002194285RCV005308741

NM_024529.5(CDC73):c.1187G>A (p.Gly396Asp) SNV
Germline
Chr1:193233025 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA1303801 rs_146571552

2 SubmittersRCV002340484RCV003096506

NM_024529.5(CDC73):c.1317-3T>C SNV
Germline
Chr1:193236253 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA2580061780 rs_2527500635

2 SubmittersRCV002385581RCV003094963

NM_024529.5(CDC73):c.1009G>A (p.Ala337Thr) SNV
Germline
Chr1:193203831 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Hyperparathyroidism 1
Parathyroid carcinoma
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1303711 rs_748667010

4 SubmittersRCV002428989RCV003464557RCV003775341RCV004779344

NM_024529.5(CDC73):c.252T>A (p.Pro84=) SNV
Germline
Chr1:193130188 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA422351274 rs_1572146630

2 SubmittersRCV002433146RCV003101930

NM_024529.5(CDC73):c.308-3C>T SNV
Germline
Chr1:193135388 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1303327 rs_778135669

2 SubmittersRCV003061035RCV004070442

NM_024529.5(CDC73):c.513-12A>G SNV
Germline
Chr1:193141838 Conflicting classifications of pathogenicity Parathyroid carcinoma
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1216122057 rs_1675912024

2 SubmittersRCV002609795RCV004725330

NM_024529.5(CDC73):c.132-2A>C SNV
Germline
Chr1:193125110 Likely pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343973023 rs_1057519419

1 SubmittersRCV002863427

NM_024529.5(CDC73):c.973-18A>G SNV
Germline
Chr1:193203777 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hyperparathyroidism 1
Hyperparathyroidism 2 with jaw tumors
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA422491611 rs_1344533583

2 SubmittersRCV002971377RCV005010830

NM_024529.5(CDC73):c.1377G>A (p.Trp459Ter) SNV
Germline
Chr1:193236316 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA344078227 rs_2102061867

1 SubmittersRCV003027188

NM_024529.5(CDC73):c.975G>A (p.Glu325=) SNV
Germline
Chr1:193203797 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Condition: not provided
Criteria Provided
Conflicting Classifications
CA422491612 rs_2527440067

3 SubmittersRCV003214072RCV005101396RCV004725685

NM_024529.5(CDC73):c.424-12G>A SNV
Germline
Chr1:193138073 Conflicting classifications of pathogenicity Hyperparathyroidism 1
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA2695199931 rs_2527317342

2 SubmittersRCV003460361RCV003500859

NM_024529.5(CDC73):c.28C>T (p.Gln10Ter) SNV
Germline
Chr1:193122228 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343972777 rs_2103111608

1 SubmittersRCV003501117

NM_024529.5(CDC73):c.1030+2T>C SNV
Germline
Chr1:193203854 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA344076196 rs_2527440254

2 SubmittersRCV003500872RCV004364913

NM_024529.5(CDC73):c.307+1G>A SNV
Germline
Chr1:193130244 Likely pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343973420 rs_2103117989

1 SubmittersRCV003501681

NM_024529.5(CDC73):c.343G>T (p.Glu115Ter) SNV
Germline
Chr1:193135426 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343960425 rs_2527311881

1 SubmittersRCV003501682

NM_024529.5(CDC73):c.43A>T (p.Lys15Ter) SNV
Germline
Chr1:193122243 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343972812 rs_2527280954

1 SubmittersRCV003500182

NM_024529.5(CDC73):c.513-1G>A SNV
Germline
Chr1:193141849 Likely pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter
CA343962199 rs_779923532

1 SubmittersRCV003500471

NM_024529.5(CDC73):c.1155-5C>T SNV
Germline
Chr1:193232988 Conflicting classifications of pathogenicity Parathyroid carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA528081507 rs_1431566505

2 SubmittersRCV003868963RCV004950746

NM_024529.5(CDC73):c.131+3A>G SNV
Germline
Chr1:193122334 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Parathyroid carcinoma
Criteria Provided
Conflicting Classifications
CA2825000874 rs_2527281543

2 SubmittersRCV004517606RCV005100630

NM_024529.5(CDC73):c.170T>A (p.Leu57Ter) SNV
Germline
Chr1:193125150 Pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter

1 SubmittersRCV005128541

NM_024529.5(CDC73):c.1031-1G>T SNV
Germline
Chr1:193212064 Likely pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter

1 SubmittersRCV005139176

NM_024529.5(CDC73):c.307+2T>G SNV
Germline
Chr1:193130245 Likely pathogenic Parathyroid carcinoma Criteria Provided
Single Submitter

1 SubmittersRCV005196578