Total 600 pathogenic variants reported for Von Hippel-Lindau syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000551.4(VHL):c.548C>A (p.Ser183Ter) SNV
Germline/somatic
Chr3:10149871 Pathogenic Papillary renal cell carcinoma type 1
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020473 rs_5030823

9 SubmittersRCV000002299RCV000208867RCV000703889RCV003162205RCV006273043

NM_000551.4(VHL):c.500G>A (p.Arg167Gln) SNV
Germline
Chr3:10149823 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Chuvash polycythemia
Reviewed By Expert Panel
CA020454 rs_5030821

20 SubmittersRCV000002300RCV000325074RCV000213850RCV000627745RCV003448242RCV004760317

NM_000551.4(VHL):c.481C>T (p.Arg161Ter) SNV
Germline/somatic
Chr3:10149804 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Familial infantile myasthenia
Hemangioblastoma
Criteria Provided
Multiple Submitters
No Conflicts
CA020408 rs_5030818

13 SubmittersRCV000002301RCV000161091RCV000492225RCV000791367RCV001280922RCV006253446

NM_000551.4(VHL):c.499C>T (p.Arg167Trp) SNV
Germline/somatic
Chr3:10149822 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020450 rs_5030820

21 SubmittersRCV000002302RCV000002303RCV000132159RCV000213079RCV000627746RCV000763092RCV003992144

NM_000551.4(VHL):c.499C>G (p.Arg167Gly) SNV
Germline
Chr3:10149822 Pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020446 rs_5030820

4 SubmittersRCV000002304RCV000466046RCV002336073

NM_000551.4(VHL):c.263G>C (p.Trp88Ser) SNV
Somatic
Chr3:10142110 Pathogenic Von Hippel-Lindau syndrome No Assertion Criteria Provided
CA020202 rs_119103277

1 SubmittersRCV000002306

NM_000551.4(VHL):c.405A>C (p.Leu135Phe) SNV
Somatic
Chr3:10146578 Pathogenic Von Hippel-Lindau syndrome No Assertion Criteria Provided
CA020338 rs_119103278

1 SubmittersRCV000002307

NM_000551.4(VHL):c.334T>C (p.Tyr112His) SNV
Germline
Chr3:10142181 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
VHL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA020277 rs_104893824

8 SubmittersRCV000002308RCV000698407RCV002321468RCV003407257

NM_000551.4(VHL):c.292T>C (p.Tyr98His) SNV
Germline
Chr3:10142139 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
VHL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA020246 rs_5030809

17 SubmittersRCV000002309RCV000492094RCV000684783RCV000679029RCV003891425

NM_000551.4(VHL):c.496G>T (p.Val166Phe) SNV
Germline
Chr3:10149819 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020436 rs_104893825

4 SubmittersRCV000002310RCV000220823RCV001851578RCV002288459

NM_000551.4(VHL):c.191G>C (p.Arg64Pro) SNV
Germline
Chr3:10142038 Pathogenic Pheochromocytoma
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Reviewed By Expert Panel
CA020089 rs_104893826

8 SubmittersRCV000002314RCV000132356RCV000208872RCV000475973RCV000679019

NM_000551.4(VHL):c.334T>A (p.Tyr112Asn) SNV
Germline
Chr3:10142181 Pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020273 rs_104893824

4 SubmittersRCV000002316RCV005222659

NM_000551.4(VHL):c.388G>C (p.Val130Leu) SNV
Germline
Chr3:10146561 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020325 rs_104893830

5 SubmittersRCV000002317RCV000030586RCV000492250RCV001071915

NM_000551.4(VHL):c.376G>T (p.Asp126Tyr) SNV
Germline
Chr3:10146549 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA020319 rs_104893831

2 SubmittersRCV000002318RCV001236092

NM_000551.4(VHL):c.488T>C (p.Leu163Pro) SNV
Germline
Chr3:10149811 Likely pathogenic RENAL CELL CARCINOMA WITH PARANEOPLASTIC ERYTHROCYTOSIS
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020423 rs_28940297

4 SubmittersRCV000002319RCV001231697RCV003298026RCV004018540

NM_000551.4(VHL):c.598C>T (p.Arg200Trp) SNV
Germline
Chr3:10149921 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Acute leukemia of ambiguous lineage
Nonpapillary renal cell carcinoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
VHL-related disorder
Inherited phaeochromocytoma and paraganglioma excluding NF1
Criteria Provided
Conflicting Classifications
CA020510 rs_28940298

30 SubmittersRCV000002320RCV000148922RCV000122262RCV000161094RCV000574264RCV000627742RCV000722031RCV002247239RCV005024991RCV004742206RCV005865151

NM_000551.4(VHL):c.574C>T (p.Pro192Ser) SNV
Germline
Chr3:10149897 Conflicting classifications of pathogenicity Chuvash polycythemia
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA020501 rs_28940300

8 SubmittersRCV000002322RCV000236065RCV000704063RCV001024480RCV002490296RCV003996075

NM_000551.4(VHL):c.571C>G (p.His191Asp) SNV
Germline
Chr3:10149894 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA020495 rs_28940301

2 SubmittersRCV000002323RCV001219111

NM_000551.4(VHL):c.250G>T (p.Val84Leu) SNV
Germline
Chr3:10142097 Pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020170 rs_5030827

6 SubmittersRCV000002324RCV001851579RCV002433440RCV003884333

NM_000551.4(VHL):c.277G>A (p.Gly93Ser) SNV
Germline/somatic
Chr3:10142124 Pathogenic Pheochromocytoma
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020230 rs_5030808

8 SubmittersRCV000002325RCV000208813RCV000698471RCV002433441RCV003460405RCV004998072

NM_000551.4(VHL):c.491A>G (p.Gln164Arg) SNV
Germline
Chr3:10149814 Pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020429 rs_267607170

5 SubmittersRCV000002326RCV001052383RCV001023261

NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) SNV
Germline
Chr1:17033078 Pathogenic Pheochromocytoma/paraganglioma syndrome 4
Hereditary pheochromocytoma and paraganglioma
Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma/paraganglioma syndrome 4
Pheochromocytoma
Gastrointestinal stromal tumor
Carney-Stratakis syndrome
Pheochromocytoma/paraganglioma syndrome 4
Pheochromocytoma
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA015643 rs_74315366

16 SubmittersRCV000013616RCV000037718RCV000215883RCV000183211RCV000627749RCV000763272RCV003233026

NM_000551.4(VHL):c.242C>T (p.Pro81Leu) SNV
Germline
Chr3:10142089 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Chuvash polycythemia
Inherited phaeochromocytoma and paraganglioma excluding NF1
Criteria Provided
Multiple Submitters
No Conflicts
CA020154 rs_193922608

13 SubmittersRCV000030582RCV000129974RCV001034657RCV001547784RCV003460493RCV005865196

NM_000551.4(VHL):c.320G>C (p.Arg107Pro) SNV
Germline
Chr3:10142167 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020262 rs_193922609

5 SubmittersRCV000030583RCV000486047RCV000492682RCV000816283

NM_000551.4(VHL):c.371C>T (p.Thr124Ile) SNV
Germline
Chr3:10146544 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary pheochromocytoma and paraganglioma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Criteria Provided
Multiple Submitters
No Conflicts
CA020308 rs_193922610

6 SubmittersRCV000679036RCV004678597RCV005222710RCV005237435RCV005394178

NM_000551.4(VHL):c.458T>A (p.Leu153Gln) SNV
Germline
Chr3:10146631 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020365 rs_193922611

3 SubmittersRCV000030587RCV001022748RCV006555351

NM_000551.4(VHL):c.524A>G (p.Tyr175Cys) SNV
Germline
Chr3:10149847 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020462 rs_193922613

5 SubmittersRCV000030589RCV000492408RCV000533687RCV004700288

NM_000551.4(VHL):c.194C>G (p.Ser65Trp) SNV
Germline
Chr3:10142041 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Reviewed By Expert Panel
CA020099 rs_5030826

12 SubmittersRCV000036539RCV000497340RCV001219547RCV002415465

NM_000551.4(VHL):c.208G>A (p.Glu70Lys) SNV
Germline
Chr3:10142055 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020108 rs_5030802

9 SubmittersRCV000036540RCV000492137RCV001379599RCV005394221

NM_000551.4(VHL):c.319C>G (p.Arg107Gly) SNV
Germline
Chr3:10142166 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020257 rs_397516440

3 SubmittersRCV000036542RCV000763091RCV002321506

NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) SNV
Germline
Chr3:10149790 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020394 rs_397516441

8 SubmittersRCV000036543RCV000487045RCV000492752RCV000631280

NM_000551.4(VHL):c.463+2T>G SNV
Germline
Chr3:10146638 Likely pathogenic Von Hippel-Lindau syndrome No Assertion Criteria Provided
CA020373 rs_5030814

1 SubmittersRCV000036545

NM_000551.4(VHL):c.464-1G>A SNV
Germline
Chr3:10149786 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020389 rs_5030817

6 SubmittersRCV000036546RCV000724861RCV001067480RCV004948143RCV005031474

NM_000551.4(VHL):c.485G>T (p.Cys162Phe) SNV
Germline
Chr3:10149808 Pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020418 rs_397516444

5 SubmittersRCV000036548RCV002513389

NM_000551.4(VHL):c.497T>C (p.Val166Ala) SNV
Germline
Chr3:10149820 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020442 rs_397516445

5 SubmittersRCV000036549RCV001023359RCV001701727

NM_000551.4(VHL):c.233A>G (p.Asn78Ser) SNV
Germline
Chr3:10142080 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Reviewed By Expert Panel
CA020131 rs_5030804

12 SubmittersRCV000079207RCV000254892RCV000492165RCV001034687

NM_000551.4(VHL):c.256C>G (p.Pro86Ala) SNV
Germline
Chr3:10142103 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020174 rs_398123481

5 SubmittersRCV000079208RCV000723702RCV001227827RCV004686575

NM_000551.4(VHL):c.326T>A (p.Ile109Asn) SNV
Germline
Chr3:10142173 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA020268 rs_398123482

4 SubmittersRCV000079209RCV000767256RCV002321574

NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) SNV
Germline
Chr16:3256323 Conflicting classifications of pathogenicity Familial Mediterranean fever
not specified
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever
Familial Mediterranean fever, autosomal dominant
Acute febrile neutrophilic dermatosis
Familial Mediterranean fever, autosomal dominant
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA280577 rs_104895124

8 SubmittersRCV000083765RCV002281918RCV002483164RCV003126470RCV003126469RCV005862973

NM_000551.4(VHL):c.629G>A (p.Arg210Gln) SNV
Germline
Chr3:10149952 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
VHL-related disorder
Criteria Provided
Conflicting Classifications
CA020530 rs_138780791

12 SubmittersRCV000115743RCV000119153RCV000627744RCV000492305RCV002267856RCV003935103

NM_000551.4(VHL):c.445G>T (p.Ala149Ser) SNV
Germline
Chr3:10146618 Pathogenic Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020355 rs_587780077

5 SubmittersRCV000115746RCV000208783RCV000492260RCV001854559

NM_000551.4(VHL):c.3G>A (p.Met1Ile) SNV
Germline
Chr3:10141850 Conflicting classifications of pathogenicity not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA020331 rs_578091032

14 SubmittersRCV000122260RCV000409700RCV000467198RCV000492595RCV000657025RCV002483231

NM_000551.4(VHL):c.558A>C (p.Glu186Asp) SNV
Germline
Chr3:10149881 Conflicting classifications of pathogenicity not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA020484 rs_587778744

3 SubmittersRCV000122261RCV001038969RCV003162559

NM_000551.4(VHL):c.191G>A (p.Arg64His) SNV
Germline
Chr3:10142038 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA020083 rs_104893826

6 SubmittersRCV000123103RCV001588972RCV004678616RCV004567063RCV004804123

NM_000551.4(VHL):c.25G>A (p.Asp9Asn) SNV
Germline
Chr3:10141872 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
VHL-related disorder
Criteria Provided
Conflicting Classifications
CA020190 rs_587780730

11 SubmittersRCV000123104RCV000524493RCV001657771RCV002426672RCV003460872RCV004742271

NM_000551.4(VHL):c.274G>T (p.Asp92Tyr) SNV
Germline
Chr3:10142121 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA020217 rs_587780731

5 SubmittersRCV000123105RCV001016495RCV004786385RCV005025201

NM_000551.4(VHL):c.-35G>A SNV
Germline
Chr3:10141813 Conflicting classifications of pathogenicity not specified
Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA020304 rs_587780992

4 SubmittersRCV000126299RCV000679009RCV001148530

NM_000551.4(VHL):c.256C>T (p.Pro86Ser) SNV
Germline
Chr3:10142103 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA020180 rs_398123481

9 SubmittersRCV000155449RCV000413630RCV000492763RCV001059327RCV004813063

NM_000551.4(VHL):c.351G>T (p.Trp117Cys) SNV
Germline
Chr3:10146524 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020294 rs_727504215

4 SubmittersRCV000154124RCV000723964RCV001020510

NM_000551.4(VHL):c.-5A>C SNV
Germline
Chr3:10141843 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA020514 rs_35793832

10 SubmittersRCV000566000RCV000679011RCV001818360RCV002053943RCV003998532

NM_000551.4(VHL):c.5C>T (p.Pro2Leu) SNV
Germline
Chr3:10141852 Conflicting classifications of pathogenicity Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
VHL-related disorder
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA020518 rs_111246617

14 SubmittersRCV000161089RCV000168429RCV000294881RCV000492422RCV000781920RCV003416030RCV005359388RCV005025251

NM_000551.4(VHL):c.194C>T (p.Ser65Leu) SNV
Germline
Chr3:10142041 Pathogenic Pancreatic cysts
Cerebellar hemangioblastoma
Retinal capillary hemangioma
Spinal hemangioblastoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020104 rs_5030826

4 SubmittersRCV000626711RCV001389259RCV004948200

NM_000551.4(VHL):c.227T>C (p.Phe76Ser) SNV
Germline
Chr3:10142074 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA020125 rs_730882033

2 SubmittersRCV000767238RCV006555516

NM_000551.4(VHL):c.257C>T (p.Pro86Leu) SNV
Germline
Chr3:10142104 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Reviewed By Expert Panel
CA020186 rs_730882034

6 SubmittersRCV000208836RCV000492524RCV001382230

NM_000551.4(VHL):c.263G>A (p.Trp88Ter) SNV
Germline
Chr3:10142110 Pathogenic Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Reviewed By Expert Panel
CA020197 rs_119103277

8 SubmittersRCV000161086RCV000208798RCV000492395RCV001382231

NM_000551.4(VHL):c.266T>C (p.Leu89Pro) SNV
Germline
Chr3:10142113 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020207 rs_5030807

5 SubmittersRCV000161087RCV000208869RCV000817709

NM_000551.4(VHL):c.340+1G>C SNV
Germline
Chr3:10142188 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Clear cell carcinoma of kidney
Thyroid cancer, nonmedullary, 1
Criteria Provided
Multiple Submitters
No Conflicts
CA020282 rs_730882032

4 SubmittersRCV000589885RCV001850279RCV003328124RCV005888583RCV005888584

NM_000551.4(VHL):c.473T>C (p.Leu158Pro) SNV
Germline
Chr3:10149796 Pathogenic Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020399 rs_121913346

5 SubmittersRCV000161088RCV000208846RCV000492547RCV001072084

NM_000551.4(VHL):c.482G>A (p.Arg161Gln) SNV
Germline
Chr3:10149805 Pathogenic Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
VHL-related disorder
Inherited phaeochromocytoma and paraganglioma excluding NF1
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA020413 rs_730882035

14 SubmittersRCV000161092RCV000208848RCV000456958RCV000563066RCV004742286RCV005865254RCV005394565

NM_000551.4(VHL):c.525C>G (p.Tyr175Ter) SNV
Germline
Chr3:10149848 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020466 rs_5030835

2 SubmittersRCV000549585RCV001388392

NM_000551.4(VHL):c.572A>C (p.His191Pro) SNV
Germline
Chr3:10149895 Conflicting classifications of pathogenicity Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA020500 rs_370050374

4 SubmittersRCV000161093RCV000200136RCV002345555RCV003462112

NM_000551.4(VHL):c.631A>C (p.Met211Leu) SNV
Germline
Chr3:10149954 Conflicting classifications of pathogenicity not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
VHL-related disorder
Criteria Provided
Conflicting Classifications
CA020534 rs_200019083

13 SubmittersRCV000161101RCV000287076RCV000541199RCV001025130RCV001704152RCV004742287

NM_000551.4(VHL):c.209A>G (p.Glu70Gly) SNV
Germline
Chr3:10142056 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA020113 rs_786202857

5 SubmittersRCV000165891RCV000227354RCV001545934RCV003462191RCV005025264

NM_000551.4(VHL):c.238A>G (p.Ser80Gly) SNV
Germline
Chr3:10142085 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA020142 rs_786202787

4 SubmittersRCV000165774RCV001388793RCV002307423

NM_000551.4(VHL):c.275A>T (p.Asp92Val) SNV
Germline
Chr3:10142122 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
VHL-related disorder
Criteria Provided
Conflicting Classifications
CA020224 rs_749091984

10 SubmittersRCV000163954RCV000412307RCV000525495RCV000679028RCV002485013RCV003462123RCV003389706

NM_000551.4(VHL):c.245G>C (p.Arg82Pro) SNV
Germline
Chr3:10142092 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA020159 rs_794726890

3 SubmittersRCV000173161RCV000724457

NM_000551.4(VHL):c.586A>T (p.Lys196Ter) SNV
Germline
Chr3:10149909 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Reviewed By Expert Panel
CA020507 rs_281860296

6 SubmittersRCV000177084RCV000724622RCV003765094

NM_000551.4(VHL):c.416C>T (p.Ser139Phe) SNV
Germline
Chr3:10146589 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA336394 rs_587780732

3 SubmittersRCV001317982RCV003462331RCV004020464

NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) SNV
Germline
Chr3:10142140 Pathogenic/Likely pathogenic Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA279916 rs_864321643

5 SubmittersRCV000203508RCV000208847RCV001064921RCV002433899RCV004721296

NM_000551.4(VHL):c.307C>G (p.Pro103Ala) SNV
Germline
Chr3:10142154 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA348715 rs_864622267

2 SubmittersRCV001018501RCV001370713

NM_000551.4(VHL):c.321C>T (p.Arg107=) SNV
Germline
Chr3:10142168 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA348868 rs_864622334

2 SubmittersRCV000204667RCV004948213

NM_000551.4(VHL):c.337C>T (p.Arg113Ter) SNV
Germline
Chr3:10142184 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA348491 rs_5030810

4 SubmittersRCV000204250RCV000456132RCV003165497RCV006263756

NM_000551.4(VHL):c.544A>G (p.Arg182Gly) SNV
Germline
Chr3:10149867 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA041490 rs_778205243

9 SubmittersRCV000204757RCV000235376RCV000663322RCV001024120RCV004567477RCV005031779

NM_000551.4(VHL):c.628C>T (p.Arg210Trp) SNV
Germline
Chr3:10149951 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Maffucci syndrome
Chuvash polycythemia
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
not specified
Criteria Provided
Conflicting Classifications
CA041992 rs_774380450

11 SubmittersRCV000204248RCV000568942RCV000662950RCV001582712RCV002467673RCV003468958RCV005031778RCV005230083

NM_000551.4(VHL):c.193T>G (p.Ser65Ala) SNV
Germline/somatic
Chr3:10142040 Likely pathogenic Von Hippel-Lindau syndrome
Pheochromocytoma
No Assertion Criteria Provided
CA357048 rs_869025616

2 SubmittersRCV000208812RCV006253891

NM_000551.4(VHL):c.194C>A (p.Ser65Ter) SNV
Germline
Chr3:10142041 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Clear cell carcinoma of kidney
Criteria Provided
Multiple Submitters
No Conflicts
CA357085 rs_5030826

8 SubmittersRCV000208831RCV001213116RCV002509303RCV003233497RCV005761983RCV005893810

NM_000551.4(VHL):c.203C>A (p.Ser68Ter) SNV
Germline
Chr3:10142050 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357051 rs_869025617

3 SubmittersRCV000208815RCV001389820RCV004948217

NM_000551.4(VHL):c.214T>C (p.Ser72Pro) SNV
Germline
Chr3:10142061 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357006 rs_869025618

4 SubmittersRCV000208787RCV000492124RCV001382227

NM_000551.4(VHL):c.217C>T (p.Gln73Ter) SNV
Germline
Chr3:10142064 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357036 rs_869025619

4 SubmittersRCV000208804RCV000679022RCV001218191RCV005771954

NM_000551.4(VHL):c.232A>T (p.Asn78Tyr) SNV
Germline
Chr3:10142079 Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA357056 rs_869025621

2 SubmittersRCV000208818RCV000568344

NM_000551.4(VHL):c.233A>C (p.Asn78Thr) SNV
Germline
Chr3:10142080 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357095 rs_5030804

3 SubmittersRCV000208838RCV000679024RCV000805326

NM_000551.4(VHL):c.233A>T (p.Asn78Ile) SNV
Germline
Chr3:10142080 Likely pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA357063 rs_5030804

2 SubmittersRCV000208821RCV000803184

NM_000551.4(VHL):c.257C>G (p.Pro86Arg) SNV
Germline
Chr3:10142104 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357142 rs_730882034

7 SubmittersRCV000208868RCV000631258RCV002426981RCV003237772

NM_000551.4(VHL):c.264G>T (p.Trp88Cys) SNV
Germline
Chr3:10142111 Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Reviewed By Expert Panel
CA357078 rs_869025622

5 SubmittersRCV000208827RCV000492552RCV000537014

NM_000551.4(VHL):c.269A>T (p.Asn90Ile) SNV
Germline
Chr3:10142116 Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA357043 rs_143985153

2 SubmittersRCV000208809RCV002426982

NM_000551.4(VHL):c.277G>C (p.Gly93Arg) SNV
Germline
Chr3:10142124 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357130 rs_5030808

3 SubmittersRCV000208861RCV001035237RCV002433917

NM_000551.4(VHL):c.277G>T (p.Gly93Cys) SNV
Germline
Chr3:10142124 Pathogenic Von Hippel-Lindau syndrome No Assertion Criteria Provided
CA357106 rs_5030808

1 SubmittersRCV000208845

NM_000551.4(VHL):c.293A>G (p.Tyr98Cys) SNV
Germline
Chr3:10142140 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357072 rs_864321643

5 SubmittersRCV000208825RCV001357107RCV001218807RCV005771955

NM_000551.4(VHL):c.311G>T (p.Gly104Val) SNV
Germline
Chr3:10142158 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA357033 rs_869025630

6 SubmittersRCV000208803RCV000679030RCV005222830

NM_000551.4(VHL):c.320G>A (p.Arg107His) SNV
Germline
Chr3:10142167 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
VHL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA357135 rs_193922609

4 SubmittersRCV000208864RCV000492448RCV001379601RCV003897458

NM_000551.4(VHL):c.332G>A (p.Ser111Asn) SNV
Germline
Chr3:10142179 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357091 rs_869025631

4 SubmittersRCV000208834RCV000492721RCV002517414

NM_000551.4(VHL):c.333C>G (p.Ser111Arg) SNV
Germline
Chr3:10142180 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA040305 rs_765978945

3 SubmittersRCV000208866RCV000492675RCV001204150

NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) SNV
Germline
Chr3:10142182 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357115 rs_869025633

6 SubmittersRCV000208852RCV000219736RCV000631262RCV001289414

NM_000551.4(VHL):c.340G>C (p.Gly114Arg) SNV
Germline
Chr3:10142187 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357101 rs_869025636

4 SubmittersRCV000208843RCV003765349RCV005512713

NM_000551.4(VHL):c.340+1G>A SNV
Germline
Chr3:10142188 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Clear cell carcinoma of kidney
Criteria Provided
Multiple Submitters
No Conflicts
CA357042 rs_730882032

6 SubmittersRCV000208808RCV001044454RCV001701877RCV004020566RCV005893811

NM_000551.4(VHL):c.341-2A>G SNV
Germline
Chr3:10146512 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Reviewed By Expert Panel
CA357004 rs_869025637

4 SubmittersRCV000208784RCV001034627

NM_000551.4(VHL):c.358A>G (p.Arg120Gly) SNV
Germline
Chr3:10146531 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357028 rs_869025642

6 SubmittersRCV000208800RCV001379374RCV001701790

NM_000551.4(VHL):c.362A>G (p.Asp121Gly) SNV
Germline
Chr3:10146535 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357083 rs_5030832

5 SubmittersRCV000208830RCV000679035RCV000801501RCV004020567

NM_000551.4(VHL):c.374A>C (p.His125Pro) SNV
Germline
Chr3:10146547 Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA357127 rs_869025643

2 SubmittersRCV000208860RCV004678642

NM_000551.4(VHL):c.414A>G (p.Pro138=) SNV
Germline
Chr3:10146587 Pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357138 rs_869025648

7 SubmittersRCV000216698RCV000208865RCV000469600RCV001636725

NM_000551.4(VHL):c.430G>T (p.Gly144Ter) SNV
Germline
Chr3:10146603 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357109 rs_869025650

3 SubmittersRCV000208850RCV000692586RCV004948219

NM_000551.4(VHL):c.445G>A (p.Ala149Thr) SNV
Germline
Chr3:10146618 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA357066 rs_587780077

2 SubmittersRCV000208822RCV002327073

NM_000551.4(VHL):c.445G>C (p.Ala149Pro) SNV
Germline
Chr3:10146618 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA357120 rs_587780077

2 SubmittersRCV000208855RCV001853329

NM_000551.4(VHL):c.452T>G (p.Ile151Ser) SNV
Germline
Chr3:10146625 Pathogenic Von Hippel-Lindau syndrome No Assertion Criteria Provided
CA357068 rs_869025655

1 SubmittersRCV000208823

NM_000551.4(VHL):c.463G>A (p.Val155Met) SNV
Germline
Chr3:10146636 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357026 rs_869025659

4 SubmittersRCV000208799RCV002515564RCV004596112

NM_000551.4(VHL):c.463+1G>C SNV
Germline
Chr3:10146637 Likely pathogenic Von Hippel-Lindau syndrome
Clear cell carcinoma of kidney
Hereditary cancer-predisposing syndrome
Criteria Provided
Single Submitter
CA357023 rs_869025657

3 SubmittersRCV000208796RCV005893812RCV005298462

NM_000551.4(VHL):c.464-2A>G SNV
Germline
Chr3:10149785 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Condition: not provided
VHL-related disorder
Clear cell carcinoma of kidney
Familial prostate cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA357046 rs_5030816

7 SubmittersRCV000208810RCV000216737RCV000824251RCV001535844RCV001542804RCV004725066RCV005893816RCV005893817

NM_000551.4(VHL):c.464-1G>C SNV
Germline
Chr3:10149786 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Clear cell carcinoma of kidney
Nonpapillary renal cell carcinoma
Criteria Provided
Single Submitter
CA357081 rs_5030817

4 SubmittersRCV000208828RCV001706206RCV005893814RCV005893813

NM_000551.4(VHL):c.464-1G>T SNV
Germline
Chr3:10149786 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Clear cell carcinoma of kidney
Criteria Provided
Multiple Submitters
No Conflicts
CA357144 rs_5030817

5 SubmittersRCV000208870RCV001853330RCV003329261RCV005298463RCV005893815

NM_000551.4(VHL):c.470C>T (p.Thr157Ile) SNV
Germline/somatic
Chr3:10149793 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Criteria Provided
Multiple Submitters
No Conflicts
CA357133 rs_869025660

4 SubmittersRCV000208862RCV001289415RCV004678643RCV006253892

NM_000551.4(VHL):c.485G>A (p.Cys162Tyr) SNV
Germline
Chr3:10149808 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357010 rs_397516444

3 SubmittersRCV000208789RCV003278699

NM_000551.4(VHL):c.486C>A (p.Cys162Ter) SNV
Germline
Chr3:10149809 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357112 rs_5030622

3 SubmittersRCV000208851RCV001061348RCV003165513

NM_000551.4(VHL):c.486C>G (p.Cys162Trp) SNV
Germline
Chr3:10149809 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA357016 rs_5030622

7 SubmittersRCV000208792RCV000226031RCV000567560RCV000679043

NM_000551.4(VHL):c.490C>T (p.Gln164Ter) SNV
Germline
Chr3:10149813 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357060 rs_5030819

5 SubmittersRCV000208820RCV000485182RCV000792769RCV002336585

NM_000551.4(VHL):c.554A>G (p.Tyr185Cys) SNV
Germline
Chr3:10149877 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
VHL-related disorder
Chuvash polycythemia
Hereditary cancer
Criteria Provided
Conflicting Classifications
CA041601 rs_561874453

14 SubmittersRCV000208797RCV000236099RCV000565491RCV000631260RCV002485365RCV003422117RCV003462397RCV005230091

NM_000551.4(VHL):c.555C>G (p.Tyr185Ter) SNV
Germline
Chr3:10149878 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357075 rs_864622109

3 SubmittersRCV000208826RCV000219064RCV001377065

NM_000551.4(VHL):c.593T>C (p.Leu198Pro) SNV
Germline
Chr3:10149916 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA357145 rs_869025667

4 SubmittersRCV000208871RCV001024703

NM_000551.4(VHL):c.641G>T (p.Ter214Leu) SNV
Germline
Chr3:10149964 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA357103 rs_869025668

2 SubmittersRCV000208844RCV003765350

NM_000551.4(VHL):c.250G>C (p.Val84Leu) SNV
Germline
Chr3:10142097 Pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10578180 rs_5030827

6 SubmittersRCV000216720RCV000588802RCV001382229

NM_000551.4(VHL):c.3G>T (p.Met1Ile) SNV
Germline
Chr3:10141850 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma
Criteria Provided
Conflicting Classifications
CA040825 rs_578091032

11 SubmittersRCV000228663RCV000236708RCV000411808RCV000562501RCV002307459RCV002487052

NM_000551.4(VHL):c.7C>T (p.Arg3Trp) SNV
Germline
Chr3:10141854 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA10582110 rs_878854130

5 SubmittersRCV000226904RCV002418000RCV003226914RCV005401394

NM_000551.4(VHL):c.134C>G (p.Pro45Arg) SNV
Germline
Chr3:10141981 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA039433 rs_199583685

7 SubmittersRCV000236098RCV001011022RCV001081208RCV003998847

NM_000551.4(VHL):c.172C>T (p.Arg58Trp) SNV
Germline
Chr3:10142019 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma
Condition: not provided
Criteria Provided
Conflicting Classifications
CA039640 rs_757781272

8 SubmittersRCV000230639RCV000663291RCV001012878RCV002500764RCV003151759

NM_000551.4(VHL):c.541G>A (p.Val181Ile) SNV
Germline
Chr3:10149864 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10582117 rs_878854127

8 SubmittersRCV000229544RCV000662874RCV002257540RCV002465580RCV003153527

NM_000551.4(VHL):c.463+4C>T SNV
Germline
Chr3:10146640 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA10584230 rs_879253989

6 SubmittersRCV000560865RCV000679042RCV001022813RCV003998905RCV005025396

NM_000551.4(VHL):c.578A>G (p.Asn193Ser) SNV
Germline
Chr3:10149901 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA10584231 rs_879254225

6 SubmittersRCV000236061RCV000537589RCV001024530RCV003998924RCV004567785

NM_000551.4(VHL):c.394C>T (p.Gln132Ter) SNV
Germline
Chr3:10146567 Pathogenic Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA10606205 rs_5030813

4 SubmittersRCV000404768RCV000767266RCV001859684

NM_000551.4(VHL):c.-64C>T SNV
Germline
Chr3:10141784 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
VHL-related disorder
Criteria Provided
Conflicting Classifications
CA10614384 rs_772944298

6 SubmittersRCV000330011RCV000679013RCV002256218RCV002057820RCV003892005

NM_000551.4(VHL):c.167C>G (p.Ala56Gly) SNV
Germline
Chr3:10142014 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Chuvash polycythemia
not specified
Criteria Provided
Conflicting Classifications
CA039566 rs_752980085

10 SubmittersRCV000409162RCV000530730RCV000782251RCV001012691RCV002481266RCV003470356RCV005238961

NM_000551.4(VHL):c.28G>A (p.Glu10Lys) SNV
Germline
Chr3:10141875 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Pheochromocytoma
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA16043991 rs_1057519261

9 SubmittersRCV000415643RCV000476548RCV001016912RCV001584111RCV002488864RCV003463824

NM_000551.4(VHL):c.*7C>A SNV
Germline
Chr3:10149972 Conflicting classifications of pathogenicity Condition: not provided
VHL-related disorder
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA042089 rs_778005138

5 SubmittersRCV001703586RCV004742417RCV005600907

NM_000551.4(VHL):c.-15T>C SNV
Germline
Chr3:10141833 Conflicting classifications of pathogenicity not specified
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA039536 rs_776768994

2 SubmittersRCV000426271RCV006550015

NM_000551.4(VHL):c.1A>T (p.Met1Leu) SNV
Germline
Chr3:10141848 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA16611052 rs_1060503557

8 SubmittersRCV000458939RCV000579235RCV000663055RCV002418424RCV005027533

NM_000551.4(VHL):c.43G>A (p.Ala15Thr) SNV
Germline
Chr3:10141890 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA16611060 rs_1060503568

4 SubmittersRCV000457623RCV002329080RCV003470500RCV004001994

NM_000551.4(VHL):c.235C>G (p.Arg79Gly) SNV
Germline
Chr3:10142082 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16611065 rs_200885420

4 SubmittersRCV000475786RCV002475891RCV004022892RCV004722797

NM_000551.4(VHL):c.115G>C (p.Gly39Arg) SNV
Germline
Chr3:10141962 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039367 rs_768650092

4 SubmittersRCV000463141RCV001550254RCV002356707

NM_000551.4(VHL):c.429C>T (p.Asp143=) SNV
Germline
Chr3:10146602 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA040956 rs_773556807

7 SubmittersRCV000470382RCV000564320RCV000613763RCV002056727RCV004002229RCV005027539

NM_000551.4(VHL):c.462A>G (p.Pro154=) SNV
Germline/somatic
Chr3:10146635 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Lung sarcomatoid carcinoma
Criteria Provided
Conflicting Classifications
CA16611069 rs_1060503562

3 SubmittersRCV000474447RCV003317229RCV003322605

NM_000551.4(VHL):c.620C>T (p.Ala207Val) SNV
Germline
Chr3:10149943 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
not specified
Criteria Provided
Conflicting Classifications
CA16611076 rs_1060503549

6 SubmittersRCV000461637RCV002365666RCV003317228RCV004802021RCV005027532RCV006458381

NM_000551.4(VHL):c.323G>A (p.Arg108His) SNV
Germline
Chr3:10142170 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA040275 rs_367594943

6 SubmittersRCV000458083RCV001019385RCV002269278RCV002489087RCV004001987

NM_000551.4(VHL):c.373C>T (p.His125Tyr) SNV
Germline
Chr3:10146546 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA040676 rs_375401722

10 SubmittersRCV000462284RCV000479517RCV000708764RCV002272247RCV002489086

NM_000551.4(VHL):c.548C>T (p.Ser183Leu) SNV
Germline
Chr3:10149871 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA041537 rs_5030823

9 SubmittersRCV000476376RCV001007624RCV002349982RCV003237874RCV004001991RCV005027537

NM_000551.4(VHL):c.579T>A (p.Asn193Lys) SNV
Germline
Chr3:10149902 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16611097 rs_1060503558

2 SubmittersRCV000464021RCV003168861

NM_000551.4(VHL):c.586A>G (p.Lys196Glu) SNV
Germline
Chr3:10149909 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA16611099 rs_281860296

4 SubmittersRCV000476155RCV002356706RCV004001993RCV004568088

NM_000551.4(VHL):c.18G>T (p.Glu6Asp) SNV
Germline
Chr3:10141865 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16611153 rs_1004620245

4 SubmittersRCV000459599RCV002411515RCV004802022RCV005054197

NM_000551.4(VHL):c.21C>A (p.Asn7Lys) SNV
Germline
Chr3:10141868 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA16611156 rs_1060503561

6 SubmittersRCV000462197RCV000574549RCV001356021RCV005027534RCV006550143

NM_000551.4(VHL):c.26A>C (p.Asp9Ala) SNV
Germline
Chr3:10141873 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16611161 rs_1060503560

2 SubmittersRCV000471735RCV002436462

NM_000551.4(VHL):c.27C>A (p.Asp9Glu) SNV
Germline
Chr3:10141874 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA16611250 rs_1017141110

5 SubmittersRCV000456617RCV002436463RCV004001988RCV003441887

NM_000551.4(VHL):c.488T>G (p.Leu163Arg) SNV
Germline
Chr3:10149811 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16611277 rs_28940297

2 SubmittersRCV000474133RCV005624214

NM_000551.4(VHL):c.613C>T (p.Arg205Cys) SNV
Germline
Chr3:10149936 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA041940 rs_199926195

7 SubmittersRCV000471333RCV000481600RCV002356704RCV004787738RCV005027535RCV004568086

NM_000551.4(VHL):c.221T>C (p.Val74Ala) SNV
Germline
Chr3:10142068 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA16617786 rs_5030803

4 SubmittersRCV000484327RCV000698497RCV002475938RCV005298500

NM_000551.4(VHL):c.224T>G (p.Ile75Ser) SNV
Germline
Chr3:10142071 Pathogenic/Likely pathogenic Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16617787 rs_1064794271

4 SubmittersRCV000479941RCV000767237RCV001201718RCV004678722

NM_000551.4(VHL):c.393C>A (p.Asn131Lys) SNV
Germline
Chr3:10146566 Pathogenic/Likely pathogenic Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16617789 rs_1064794272

5 SubmittersRCV000482784RCV002525827RCV005056049RCV005512750

NM_000551.4(VHL):c.551T>C (p.Leu184Pro) SNV
Germline
Chr3:10149874 Pathogenic/Likely pathogenic Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16617792 rs_1064793878

4 SubmittersRCV000484822RCV001258069RCV005222956

NM_000551.4(VHL):c.599G>A (p.Arg200Gln) SNV
Germline
Chr3:10149922 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
VHL-related disorder
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA041791 rs_754016774

8 SubmittersRCV000479035RCV000823835RCV001024771RCV001143974RCV003401545RCV003464021

NM_000551.4(VHL):c.614G>A (p.Arg205His) SNV
Germline
Chr3:10149937 Conflicting classifications of pathogenicity Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Pheochromocytoma
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA041951 rs_777130107

8 SubmittersRCV000481472RCV000764460RCV000631259RCV001024946RCV004787783

NM_000551.4(VHL):c.208G>T (p.Glu70Ter) SNV
Germline
Chr3:10142055 Pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Reviewed By Expert Panel
CA16602179 rs_5030802

4 SubmittersRCV000492695RCV000767235RCV000679020

NM_000551.4(VHL):c.250G>A (p.Val84Met) SNV
Germline
Chr3:10142097 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351750580 rs_5030827

7 SubmittersRCV000492467RCV000631269RCV000767245RCV004721392

NM_000551.4(VHL):c.286C>T (p.Gln96Ter) SNV
Germline
Chr3:10142133 Pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351750811 rs_1131690959

2 SubmittersRCV000492143RCV006556089

NM_000551.4(VHL):c.341-3T>G SNV
Germline
Chr3:10146511 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA16020704 rs_1131690965

3 SubmittersRCV000492211RCV000767259RCV006556090

NM_000551.4(VHL):c.353T>C (p.Leu118Pro) SNV
Germline
Chr3:10146526 Pathogenic Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA70049399 rs_5030830

5 SubmittersRCV000492175RCV000801496RCV001702663RCV004591439

NM_000551.4(VHL):c.353T>G (p.Leu118Arg) SNV
Germline
Chr3:10146526 Pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351753694 rs_5030830

2 SubmittersRCV000492280RCV003233031

NM_000551.4(VHL):c.452T>C (p.Ile151Thr) SNV
Germline
Chr3:10146625 Pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
See cases
Criteria Provided
Multiple Submitters
No Conflicts
CA351754359 rs_869025655

4 SubmittersRCV000492569RCV000590238RCV000705307RCV004584391

NM_000551.4(VHL):c.463+3A>G SNV
Germline
Chr3:10146639 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA645369331 rs_1131690954

7 SubmittersRCV000492736RCV000587888RCV001809448RCV003316644RCV005222967

NM_000551.4(VHL):c.500G>C (p.Arg167Pro) SNV
Germline
Chr3:10149823 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351756177 rs_5030821

3 SubmittersRCV000492510RCV000767282RCV006556088

NM_000551.4(VHL):c.506T>C (p.Leu169Pro) SNV
Germline
Chr3:10149829 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
See cases
Criteria Provided
Conflicting Classifications
CA351756191 rs_1131690962

3 SubmittersRCV000492632RCV003766762RCV005899759

NM_000551.4(VHL):c.533T>C (p.Leu178Pro) SNV
Germline
Chr3:10149856 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351756245 rs_5030822

6 SubmittersRCV000492520RCV000631291RCV000767287RCV004701555

NM_000551.4(VHL):c.581T>G (p.Val194Gly) SNV
Germline
Chr3:10149904 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756475 rs_1131690963

4 SubmittersRCV000492180RCV000547627RCV005056071RCV005398712

NM_000551.4(VHL):c.583C>T (p.Gln195Ter) SNV
Germline
Chr3:10149906 Pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Reviewed By Expert Panel
CA70052558 rs_5030825

4 SubmittersRCV000492237RCV001030024

NM_000551.4(VHL):c.53C>T (p.Ala18Val) SNV
Germline
Chr3:10141900 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351747282 rs_1553619302

4 SubmittersRCV000527264RCV002350176RCV003233701RCV004003777

NM_000551.4(VHL):c.289C>A (p.Pro97Thr) SNV
Germline
Chr3:10142136 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351750843 rs_863224688

3 SubmittersRCV000536081RCV005298511RCV006550311

NM_000551.4(VHL):c.22T>C (p.Trp8Arg) SNV
Germline
Chr3:10141869 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351747057 rs_1352171735

5 SubmittersRCV000559388RCV003478129RCV004787842RCV005298510

NM_000551.4(VHL):c.31G>C (p.Ala11Pro) SNV
Germline
Chr3:10141878 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351747101 rs_1236604706

4 SubmittersRCV000554589RCV000764457RCV001019152RCV004791523

NM_000551.4(VHL):c.262T>A (p.Trp88Arg) SNV
Germline
Chr3:10142109 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351750671 rs_1553619431

7 SubmittersRCV000558602RCV000587190RCV000679026RCV002431533RCV003459186

NM_000551.4(VHL):c.377A>G (p.Asp126Gly) SNV
Germline
Chr3:10146550 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA351753841 rs_1354593943

3 SubmittersRCV000553383RCV001021117RCV001764530

NM_000551.4(VHL):c.385C>T (p.Leu129=) SNV
Germline
Chr3:10146558 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA040752 rs_369018004

4 SubmittersRCV000546965RCV002358438RCV005620962

NM_000551.4(VHL):c.492G>T (p.Gln164His) SNV
Germline
Chr3:10149815 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756157 rs_1352275281

4 SubmittersRCV000538803RCV003330751RCV002508221RCV003302779

NM_000551.4(VHL):c.12G>A (p.Arg4=) SNV
Germline
Chr3:10141859 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA432536137 rs_1553619274

5 SubmittersRCV000551863RCV002384044RCV005620959RCV004592548

NM_000551.4(VHL):c.37G>A (p.Val13Ile) SNV
Germline
Chr3:10141884 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA70042199 rs_919338576

2 SubmittersRCV000532105RCV004023757

NM_000551.4(VHL):c.99G>C (p.Ser33=) SNV
Germline
Chr3:10141946 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA70042269 rs_912159589

6 SubmittersRCV000555182RCV001150097RCV002384045

NM_000551.4(VHL):c.105C>G (p.Ala35=) SNV
Germline
Chr3:10141952 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA432536266 rs_1310829877

8 SubmittersRCV000542575RCV001009767RCV001150098RCV001797098

NM_000551.4(VHL):c.312C>T (p.Gly104=) SNV
Germline
Chr3:10142159 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
VHL-related disorder
Nonpapillary renal cell carcinoma
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70046276 rs_946898891

7 SubmittersRCV000539418RCV001018749RCV001545850RCV003392366RCV005034085RCV005620961

NM_000551.4(VHL):c.614G>T (p.Arg205Leu) SNV
Germline
Chr3:10149937 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756661 rs_777130107

3 SubmittersRCV000526063RCV002358439RCV004003778

NM_000551.4(VHL):c.385C>G (p.Leu129Val) SNV
Germline
Chr3:10146558 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA040734 rs_369018004

6 SubmittersRCV000568082RCV000707457RCV003441963RCV004787963

NM_000551.4(VHL):c.302T>C (p.Leu101Pro) SNV
Germline
Chr3:10142149 Likely pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351751000 rs_1553619456

2 SubmittersRCV000574983RCV001858152

NM_000551.4(VHL):c.487C>T (p.Leu163Phe) SNV
Germline
Chr3:10149810 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756135 rs_1553620318

3 SubmittersRCV000561095RCV001224534RCV005056204

NM_000551.4(VHL):c.460C>T (p.Pro154Ser) SNV
Germline
Chr3:10146633 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351754405 rs_1553619993

4 SubmittersRCV000566330RCV001046833RCV001420952

NM_000551.4(VHL):c.508G>A (p.Val170Ile) SNV
Germline
Chr3:10149831 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756194 rs_1553620326

8 SubmittersRCV000569840RCV001210329RCV002483543RCV003322793RCV004568224RCV006552434

NM_000551.4(VHL):c.278G>A (p.Gly93Asp) SNV
Germline
Chr3:10142125 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351750781 rs_1553619440

5 SubmittersRCV000586256RCV001853983RCV005000363

NM_000551.4(VHL):c.313A>C (p.Thr105Pro) SNV
Germline/somatic
Chr3:10142160 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351751116 rs_1553619461

2 SubmittersRCV000589007

NM_000551.4(VHL):c.395A>C (p.Gln132Pro) SNV
Germline
Chr3:10146568 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351753958 rs_1347416980

3 SubmittersRCV000589183RCV002377215RCV005223019

NM_000551.4(VHL):c.355T>C (p.Phe119Leu) SNV
Germline
Chr3:10146528 Pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351753707 rs_1553619948

3 SubmittersRCV000588483RCV000631289RCV002456285

NM_000551.4(VHL):c.407T>G (p.Phe136Cys) SNV
Germline
Chr3:10146580 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70049495 rs_5030833

4 SubmittersRCV000589290RCV000767268RCV006556306

NM_000551.4(VHL):c.238A>C (p.Ser80Arg) SNV
Germline
Chr3:10142085 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16621913 rs_786202787

2 SubmittersRCV000590356RCV006556305

NM_000551.4(VHL):c.388G>T (p.Val130Phe) SNV
Germline
Chr3:10146561 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351753913 rs_104893830

3 SubmittersRCV000588434RCV004024678

NM_000551.4(VHL):c.262T>C (p.Trp88Arg) SNV
Germline
Chr3:10142109 Pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351750667 rs_1553619431

3 SubmittersRCV000589476RCV000631292

NM_000551.4(VHL):c.392A>G (p.Asn131Ser) SNV
Germline
Chr3:10146565 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351753941 rs_1553619963

3 SubmittersRCV000590750RCV002225684RCV002530908

NM_000551.4(VHL):c.484T>C (p.Cys162Arg) SNV
Germline
Chr3:10149807 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756117 rs_1553620313

3 SubmittersRCV000587033RCV001060967

NM_000551.4(VHL):c.345C>A (p.His115Gln) SNV
Germline
Chr3:10146518 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351753631 rs_864622646

3 SubmittersRCV000588324RCV001044333RCV005231141

NM_000551.4(VHL):c.382C>T (p.Leu128Phe) SNV
Germline
Chr3:10146555 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351753886 rs_1553619956

2 SubmittersRCV001232610RCV005240275

NM_000551.4(VHL):c.407T>C (p.Phe136Ser) SNV
Germline
Chr3:10146580 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA040847 rs_5030833

5 SubmittersRCV000587621RCV000679038RCV003767339

NM_000551.4(VHL):c.-44G>T SNV
Germline
Chr3:10141804 Conflicting classifications of pathogenicity not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA70042011 rs_929301467

2 SubmittersRCV000615943RCV005223047

NM_000551.4(VHL):c.-48C>G SNV
Germline
Chr3:10141800 Conflicting classifications of pathogenicity not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA658796230 rs_973379327

2 SubmittersRCV000608452RCV006556378

NM_000551.4(VHL):c.-47C>T SNV
Germline
Chr3:10141801 Conflicting classifications of pathogenicity not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA041298 rs_745439844

3 SubmittersRCV000613129RCV003767559

NM_000551.4(VHL):c.-10C>T SNV
Germline
Chr3:10141838 Conflicting classifications of pathogenicity not specified
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA541213514 rs_1192379474

3 SubmittersRCV000609650RCV002498924RCV004802290

NM_000551.4(VHL):c.216C>T (p.Ser72=) SNV
Germline
Chr3:10142063 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA039823 rs_774557051

5 SubmittersRCV000631303RCV002431859RCV003497874

NM_000551.4(VHL):c.341-8C>G SNV
Germline
Chr3:10146506 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA658795339 rs_1272767361

2 SubmittersRCV000631265RCV006552542

NM_000551.4(VHL):c.500G>T (p.Arg167Leu) SNV
Germline
Chr3:10149823 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351756178 rs_5030821

1 SubmittersRCV000631284

NM_000551.4(VHL):c.245G>T (p.Arg82Leu) SNV
Germline
Chr3:10142092 Pathogenic/Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351750555 rs_794726890

4 SubmittersRCV000631271RCV001553666RCV002448934

NM_000551.4(VHL):c.298A>G (p.Thr100Ala) SNV
Germline
Chr3:10142145 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA040192 rs_745901803

9 SubmittersRCV000631270RCV000997987RCV002255483RCV002477380RCV004788047

NM_000551.4(VHL):c.460C>G (p.Pro154Ala) SNV
Germline
Chr3:10146633 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351754403 rs_1553619993

1 SubmittersRCV000631264

NM_000551.4(VHL):c.463+1G>A SNV
Germline
Chr3:10146637 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Reviewed By Expert Panel
CA16621909 rs_869025657

5 SubmittersRCV000631276RCV000714168RCV002334057RCV004691263

NM_000551.4(VHL):c.291C>G (p.Pro97=) SNV
Germline
Chr3:10142138 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA70046209 rs_1805159

4 SubmittersRCV000631295RCV001143971RCV002438649

NM_000551.4(VHL):c.575C>T (p.Pro192Leu) SNV
Germline
Chr3:10149898 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351756444 rs_902694906

6 SubmittersRCV000631274RCV000767296RCV000679044RCV002343200

NM_000551.4(VHL):c.193T>C (p.Ser65Pro) SNV
Germline
Chr3:10142040 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351748798 rs_869025616

2 SubmittersRCV000660351

NM_000551.4(VHL):c.1A>G (p.Met1Val) SNV
Germline
Chr3:10141848 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351747010 rs_1060503557

5 SubmittersRCV000662755RCV001230391RCV001784228RCV002422448

NC_000003.12:g.10141751T>G SNV
Germline
Chr3:10141751 Conflicting classifications of pathogenicity Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA70041931 rs_34271731

5 SubmittersRCV000679016RCV002060844RCV002256463RCV001816688

NM_000551.4(VHL):c.-73C>T SNV
Germline
Chr3:10141775 Conflicting classifications of pathogenicity Pheochromocytoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
not specified
Criteria Provided
Conflicting Classifications
CA70041962 rs_1034934219

5 SubmittersRCV000764456RCV001148529RCV001796976

NM_000551.4(VHL):c.341-4A>T SNV
Germline
Chr3:10146510 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA658822548 rs_1559428033

6 SubmittersRCV000679033RCV001442130RCV002458187RCV005621014

NM_000551.4(VHL):c.3G>C (p.Met1Ile) SNV
Germline
Chr3:10141850 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70042122 rs_578091032

3 SubmittersRCV000707210RCV002369974RCV004792421

NM_000551.4(VHL):c.217C>G (p.Gln73Glu) SNV
Germline
Chr3:10142064 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA70042515 rs_869025619

2 SubmittersRCV000686913RCV002424590

NM_000551.4(VHL):c.264G>C (p.Trp88Cys) SNV
Germline
Chr3:10142111 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351750678 rs_869025622

1 SubmittersRCV000704506

NM_000551.4(VHL):c.164A>G (p.Glu55Gly) SNV
Germline
Chr3:10142011 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748514 rs_1328776664

2 SubmittersRCV000696740RCV005772018

NM_000551.4(VHL):c.340G>A (p.Gly114Ser) SNV
Germline
Chr3:10142187 Pathogenic/Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351751372 rs_869025636

3 SubmittersRCV000707336RCV003353002RCV006554580

NM_000551.4(VHL):c.341-5G>T SNV
Germline
Chr3:10146509 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA891843323 rs_372340900

3 SubmittersRCV000688058RCV005621015RCV005772015

NM_000551.4(VHL):c.370A>G (p.Thr124Ala) SNV
Germline
Chr3:10146543 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA351753796 rs_1559428091

2 SubmittersRCV000707189RCV001759423

NM_000551.4(VHL):c.472C>G (p.Leu158Val) SNV
Germline
Chr3:10149795 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756068 rs_1559429613

3 SubmittersRCV000688156RCV001575396RCV002334267

NM_000551.4(VHL):c.331A>T (p.Ser111Cys) SNV
Germline
Chr3:10142178 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351751322 rs_1559426203

1 SubmittersRCV000685144

NM_000551.4(VHL):c.463+2T>C SNV
Germline
Chr3:10146638 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Clear cell carcinoma of kidney
Criteria Provided
Single Submitter
CA16621936 rs_5030814

3 SubmittersRCV000690034RCV000786844RCV005901651

NM_000551.4(VHL):c.88G>A (p.Gly30Arg) SNV
Germline
Chr3:10141935 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70042258 rs_913104799

5 SubmittersRCV000685906RCV001018482RCV002298738RCV004802352

NM_000551.4(VHL):c.280G>T (p.Glu94Ter) SNV
Germline
Chr3:10142127 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA70046202 rs_5030829

3 SubmittersRCV000767251RCV000708631RCV001222557

NM_000551.4(VHL):c.481C>G (p.Arg161Gly) SNV
Germline
Chr3:10149804 Pathogenic Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16621941 rs_5030818

3 SubmittersRCV000756901RCV001855883RCV002332535

NM_000551.4(VHL):c.492G>C (p.Gln164His) SNV
Germline
Chr3:10149815 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756154 rs_1352275281

6 SubmittersRCV000756902RCV001023281RCV001382402RCV005870839

NM_000551.4(VHL):c.188T>A (p.Leu63Gln) SNV
Germline
Chr3:10142035 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351748753 rs_104893827

2 SubmittersRCV000767232RCV001037923

NM_000551.4(VHL):c.203C>T (p.Ser68Leu) SNV
Germline
Chr3:10142050 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748894 rs_869025617

3 SubmittersRCV000767234RCV001046095RCV002422648

NM_000551.4(VHL):c.221T>A (p.Val74Asp) SNV
Germline
Chr3:10142068 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351749169 rs_5030803

2 SubmittersRCV000767236RCV001855961

NM_000551.4(VHL):c.227T>A (p.Phe76Tyr) SNV
Germline
Chr3:10142074 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351749231 rs_730882033

3 SubmittersRCV000767239RCV004027205RCV005213385

NM_000551.4(VHL):c.232A>C (p.Asn78His) SNV
Germline
Chr3:10142079 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351749283 rs_869025621

2 SubmittersRCV000767240

NM_000551.4(VHL):c.232A>G (p.Asn78Asp) SNV
Germline
Chr3:10142079 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351749284 rs_869025621

4 SubmittersRCV000767241RCV001869052RCV002260666

NM_000551.4(VHL):c.239G>T (p.Ser80Ile) SNV
Germline
Chr3:10142086 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16621914 rs_5030805

4 SubmittersRCV000767244RCV001220559RCV005512813

NM_000551.4(VHL):c.287A>C (p.Gln96Pro) SNV
Germline
Chr3:10142134 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351750823 rs_1559426089

2 SubmittersRCV000767252RCV002440591

NM_000551.4(VHL):c.294C>G (p.Tyr98Ter) SNV
Germline
Chr3:10142141 Pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA16621910 rs_1559426115

3 SubmittersRCV000767254RCV004723159RCV006556630

NM_000551.4(VHL):c.350G>A (p.Trp117Ter) SNV
Germline
Chr3:10146523 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351753668 rs_1559428056

1 SubmittersRCV000767261

NM_000551.4(VHL):c.357C>G (p.Phe119Leu) SNV
Germline
Chr3:10146530 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351753726 rs_1559428077

5 SubmittersRCV000767262RCV000821822RCV002458373RCV005638530

NM_000551.4(VHL):c.386T>C (p.Leu129Pro) SNV
Germline
Chr3:10146559 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351753904 rs_1559428119

2 SubmittersRCV000767264RCV001855962

NM_000551.4(VHL):c.429C>G (p.Asp143Glu) SNV
Germline
Chr3:10146602 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351754191 rs_773556807

3 SubmittersRCV000767271RCV005286204RCV006556631

NM_000551.4(VHL):c.433C>T (p.Gln145Ter) SNV
Germline
Chr3:10146606 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351754219 rs_749704215

2 SubmittersRCV000767273RCV006556632

NM_000551.4(VHL):c.490C>G (p.Gln164Glu) SNV
Germline
Chr3:10149813 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756145 rs_5030819

2 SubmittersRCV000767279RCV005213386

NM_000551.4(VHL):c.497T>A (p.Val166Asp) SNV
Germline
Chr3:10149820 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351756176 rs_397516445

1 SubmittersRCV000767280

NM_000551.4(VHL):c.509T>A (p.Val170Asp) SNV
Germline
Chr3:10149832 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756195 rs_864321642

6 SubmittersRCV000767283RCV001701154RCV002334429RCV002533922

NM_000551.4(VHL):c.529A>T (p.Arg177Ter) SNV
Germline
Chr3:10149852 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351756239 rs_1559429717

1 SubmittersRCV000767285

NM_000551.4(VHL):c.533T>A (p.Leu178Gln) SNV
Germline
Chr3:10149856 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA70052370 rs_5030822

1 SubmittersRCV000767288

NM_000551.4(VHL):c.533T>G (p.Leu178Arg) SNV
Germline
Chr3:10149856 Pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756248 rs_5030822

2 SubmittersRCV000767289RCV003279047

NM_000551.4(VHL):c.563T>A (p.Leu188Gln) SNV
Germline
Chr3:10149886 Likely pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351756398 rs_1559429824

1 SubmittersRCV000767293

NM_000551.4(VHL):c.563T>C (p.Leu188Pro) SNV
Germline
Chr3:10149886 Pathogenic/Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756399 rs_1559429824

3 SubmittersRCV000767294RCV002536595

NM_000551.4(VHL):c.642A>G (p.Ter214Trp) SNV
Germline
Chr3:10149965 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756723 rs_1559430011

3 SubmittersRCV000767298RCV006556633

NM_000551.4(VHL):c.642A>T (p.Ter214Cys) SNV
Germline
Chr3:10149965 Likely pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351756724 rs_1559430011

1 SubmittersRCV000767299

NM_000551.4(VHL):c.331A>G (p.Ser111Gly) SNV
Germline
Chr3:10142178 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351751321 rs_1559426203

2 SubmittersRCV000780788RCV001039507

NM_000551.4(VHL):c.336C>G (p.Tyr112Ter) SNV
Germline
Chr3:10142183 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351751359 rs_751232153

4 SubmittersRCV000780787RCV001068352RCV003307415RCV005641801

NM_000551.4(VHL):c.70G>A (p.Gly24Ser) SNV
Germline
Chr3:10141917 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Ovarian cancer
Criteria Provided
Conflicting Classifications
CA351747411 rs_1438223626

2 SubmittersRCV000803089RCV003153844

NM_000551.4(VHL):c.134C>T (p.Pro45Leu) SNV
Germline
Chr3:10141981 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70042375 rs_199583685

4 SubmittersRCV000803524RCV002381760RCV003238229RCV004001665

NM_000551.4(VHL):c.265C>T (p.Leu89Phe) SNV
Germline
Chr3:10142112 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
not specified
Criteria Provided
Conflicting Classifications
CA351750683 rs_1575922124

6 SubmittersRCV000807105RCV003166260RCV004001694RCV005623371RCV005432435

NM_000551.4(VHL):c.344A>G (p.His115Arg) SNV
Germline
Chr3:10146517 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA70049376 rs_5030812

2 SubmittersRCV000822511RCV003169035

NM_000551.4(VHL):c.461C>T (p.Pro154Leu) SNV
Germline
Chr3:10146634 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351754410 rs_1399097617

2 SubmittersRCV000804483RCV002336632

NM_000551.4(VHL):c.572A>G (p.His191Arg) SNV
Germline
Chr3:10149895 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA041703 rs_370050374

6 SubmittersRCV000815290RCV001292677RCV002345864RCV005416425

NM_000551.4(VHL):c.340+3A>G SNV
Germline
Chr3:10142190 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA915941838 rs_1575922597

3 SubmittersRCV000794955RCV001020206RCV001592972

NM_000551.4(VHL):c.252G>C (p.Val84=) SNV
Germline
Chr3:10142099 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA432420469 rs_1436342215

5 SubmittersRCV000923179RCV003169318RCV004803302RCV006261164

NM_000551.4(VHL):c.6C>T (p.Pro2=) SNV
Germline
Chr3:10141853 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70042136 rs_1014417508

4 SubmittersRCV000937631RCV001395391RCV002363426RCV005621044

NM_000551.4(VHL):c.640T>A (p.Ter214Arg) SNV
Germline
Chr3:10149963 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756718 rs_1575932781

3 SubmittersRCV000987111RCV001025239RCV002550599

NM_000551.4(VHL):c.340+770T>C SNV
Germline
Chr3:10142957 Conflicting classifications of pathogenicity Chuvash polycythemia
Chuvash polycythemia
Von Hippel-Lindau syndrome
Congenital Erythrocytosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA896160296 rs_1346312258

10 SubmittersRCV001007626RCV001238805RCV003325984RCV004588452RCV005298669RCV005359743

NM_000551.4(VHL):c.245G>A (p.Arg82His) SNV
Germline
Chr3:10142092 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351750549 rs_794726890

2 SubmittersRCV001015609RCV001219698

NM_000551.4(VHL):c.524A>T (p.Tyr175Phe) SNV
Germline
Chr3:10149847 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756230 rs_193922613

4 SubmittersRCV001023797RCV001359453RCV001536627RCV006545786

NM_000551.4(VHL):c.575C>G (p.Pro192Arg) SNV
Germline
Chr3:10149898 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70052552 rs_902694906

2 SubmittersRCV001024492RCV001294333

NM_000551.4(VHL):c.341-1G>A SNV
Germline
Chr3:10146513 Pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351753591 rs_1575927648

4 SubmittersRCV001020234RCV003447574RCV003467657RCV006556934

NM_000551.4(VHL):c.508G>C (p.Val170Leu) SNV
Germline
Chr3:10149831 Likely pathogenic Von Hippel-Lindau syndrome No Assertion Criteria Provided
CA351756192 rs_1553620326

1 SubmittersRCV001028059

NM_000551.4(VHL):c.17A>C (p.Glu6Ala) SNV
Germline
Chr3:10141864 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351747033 rs_1696114029

2 SubmittersRCV001071455RCV004950253

NM_000551.4(VHL):c.21C>G (p.Asn7Lys) SNV
Germline
Chr3:10141868 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351747053 rs_1060503561

2 SubmittersRCV001053669RCV004678922

NM_000551.4(VHL):c.27C>G (p.Asp9Glu) SNV
Germline
Chr3:10141874 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351747082 rs_1017141110

2 SubmittersRCV001050407RCV005762158

NM_000551.4(VHL):c.59T>C (p.Val20Ala) SNV
Germline
Chr3:10141906 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA70042225 rs_929332564

2 SubmittersRCV001047363RCV002355024

NM_000551.4(VHL):c.151G>C (p.Glu51Gln) SNV
Germline
Chr3:10141998 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Criteria Provided
Conflicting Classifications
CA351748282 rs_1480825246

3 SubmittersRCV001042972RCV004031308RCV005029601

NM_000551.4(VHL):c.160A>T (p.Met54Leu) SNV
Germline
Chr3:10142007 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748458 rs_1696125033

2 SubmittersRCV001046725RCV003307840

NM_000551.4(VHL):c.208G>C (p.Glu70Gln) SNV
Germline
Chr3:10142055 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351748955 rs_5030802

1 SubmittersRCV001051596

NM_000551.4(VHL):c.253C>G (p.Leu85Val) SNV
Germline
Chr3:10142100 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351750604 rs_1422271977

4 SubmittersRCV001043701RCV002429599RCV004570144RCV006545814

NM_000551.4(VHL):c.304C>T (p.Pro102Ser) SNV
Germline
Chr3:10142151 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA040238 rs_532018719

3 SubmittersRCV001063174RCV004998628RCV005298694

NM_000551.4(VHL):c.330C>G (p.His110Gln) SNV
Germline
Chr3:10142177 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351751317 rs_1696140667

2 SubmittersRCV001071787RCV005512904

NM_000551.4(VHL):c.349T>G (p.Trp117Gly) SNV
Germline
Chr3:10146522 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351753662 rs_1696261074

1 SubmittersRCV001069048

NM_000551.4(VHL):c.451A>G (p.Ile151Val) SNV
Germline
Chr3:10146624 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351754350 rs_876659313

3 SubmittersRCV001063276RCV002290579RCV003160518

NM_000551.4(VHL):c.596A>G (p.Glu199Gly) SNV
Germline
Chr3:10149919 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351756560 rs_760690217

6 SubmittersRCV001052780RCV004597955RCV004570197RCV004000055RCV006287334

NM_000551.4(VHL):c.599G>T (p.Arg200Leu) SNV
Germline
Chr3:10149922 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA041814 rs_754016774

1 SubmittersRCV001042529

NM_000551.4(VHL):c.109G>T (p.Glu37Ter) SNV
Germline
Chr3:10141956 Conflicting classifications of pathogenicity Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351747760 rs_1338996432

2 SubmittersRCV001092964RCV002554860

NM_000551.4(VHL):c.*70C>T SNV
Germline
Chr3:10150035 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
VHL-related disorder
Criteria Provided
Conflicting Classifications
CA70052740 rs_552290225

8 SubmittersRCV001145867RCV001512864RCV001530804RCV002259085RCV005419008RCV004743300

NM_000551.4(VHL):c.362A>T (p.Asp121Val) SNV
Germline
Chr3:10146535 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351753756 rs_5030832

1 SubmittersRCV001221169

NM_000551.4(VHL):c.38T>C (p.Val13Ala) SNV
Germline
Chr3:10141885 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351747150 rs_1553619289

3 SubmittersRCV001210678RCV002356899RCV006545965

NM_000551.4(VHL):c.149C>G (p.Ala50Gly) SNV
Germline
Chr3:10141996 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748259 rs_766576246

2 SubmittersRCV001204260RCV004678990

NM_000551.4(VHL):c.264G>A (p.Trp88Ter) SNV
Germline
Chr3:10142111 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Tuberous sclerosis 2
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA351750677 rs_869025622

5 SubmittersRCV001205532RCV003163557RCV005863372RCV005863371RCV006450904

NM_000551.4(VHL):c.421A>C (p.Asn141His) SNV
Germline
Chr3:10146594 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351754131 rs_1696265107

2 SubmittersRCV001206608RCV006287352

NM_000551.4(VHL):c.545G>C (p.Arg182Thr) SNV
Germline
Chr3:10149868 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351756315 rs_749774529

3 SubmittersRCV001205464RCV004803562RCV004950324

NM_000551.4(VHL):c.463+5T>G SNV
Germline
Chr3:10146641 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70049644 rs_1003364563

4 SubmittersRCV001218453RCV002339573RCV004803575

NM_000551.4(VHL):c.130G>C (p.Gly44Arg) SNV
Germline
Chr3:10141977 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748058 rs_1575921446

3 SubmittersRCV001233308RCV002484277RCV005512962

NM_000551.4(VHL):c.478G>C (p.Glu160Gln) SNV
Germline
Chr3:10149801 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351756093 rs_1696354965

3 SubmittersRCV001231369RCV002484264RCV004951379

NM_000551.4(VHL):c.93G>C (p.Glu31Asp) SNV
Germline
Chr3:10141940 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA351747611 rs_1438911242

6 SubmittersRCV001243676RCV004034759RCV005036526RCV004803600RCV006258490

NM_000551.4(VHL):c.563T>G (p.Leu188Arg) SNV
Germline
Chr3:10149886 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351756400 rs_1559429824

1 SubmittersRCV001246640

NM_000551.4(VHL):c.131G>A (p.Gly44Asp) SNV
Germline
Chr3:10141978 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA70042374 rs_1056226386

3 SubmittersRCV001300923RCV002258187

NM_000551.4(VHL):c.184G>C (p.Val62Leu) SNV
Germline
Chr3:10142031 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748731 rs_747861291

2 SubmittersRCV001295524RCV002411940

NM_000551.4(VHL):c.295C>A (p.Pro99Thr) SNV
Germline
Chr3:10142142 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351750899 rs_549807529

2 SubmittersRCV001294550RCV002437001

NM_000551.4(VHL):c.464-9C>T SNV
Germline
Chr3:10149778 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA541213526 rs_1238907068

2 SubmittersRCV001294956RCV004803607

NM_000551.4(VHL):c.190C>A (p.Arg64Ser) SNV
Germline
Chr3:10142037 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351748769 rs_1487408934

1 SubmittersRCV001322991

NM_000551.4(VHL):c.340+714G>A SNV
Germline
Chr3:10142901 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Criteria Provided
Conflicting Classifications
CA896160287 rs_1054796088

2 SubmittersRCV001323871RCV001810030

NM_000551.4(VHL):c.365C>T (p.Ala122Val) SNV
Germline
Chr3:10146538 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351753771 rs_1696261924

2 SubmittersRCV001327637RCV002456464

NM_000551.4(VHL):c.446C>T (p.Ala149Val) SNV
Germline
Chr3:10146619 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351754317 rs_1696266503

1 SubmittersRCV001317824

NM_000551.4(VHL):c.463G>C (p.Val155Leu) SNV
Germline
Chr3:10146636 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Criteria Provided
Conflicting Classifications
CA351754415 rs_869025659

2 SubmittersRCV001323712RCV001577162

NM_000551.4(VHL):c.88G>C (p.Gly30Arg) SNV
Germline
Chr3:10141935 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Chuvash polycythemia
Pheochromocytoma
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351747563 rs_913104799

5 SubmittersRCV001351817RCV002377495RCV002486456RCV004005245

NM_000551.4(VHL):c.145G>C (p.Gly49Arg) SNV
Germline
Chr3:10141992 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748216 rs_1696124265

2 SubmittersRCV001346919RCV005513024

NM_000551.4(VHL):c.327C>G (p.Ile109Met) SNV
Germline
Chr3:10142174 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351751282 rs_863224371

3 SubmittersRCV001338507RCV002322272RCV004005152

NM_000551.4(VHL):c.340+574A>T SNV
Germline
Chr3:10142761 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA70046634 rs_982745672

3 SubmittersRCV001344145RCV004809566RCV005513020

NM_000551.4(VHL):c.340+832T>C SNV
Germline
Chr3:10143019 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1345067657 rs_1696165411

2 SubmittersRCV001348216RCV003169706

NM_000551.4(VHL):c.593T>A (p.Leu198Gln) SNV
Germline
Chr3:10149916 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351756548 rs_869025667

2 SubmittersRCV001377066RCV005419106

NM_000551.4(VHL):c.239G>A (p.Ser80Asn) SNV
Germline
Chr3:10142086 Pathogenic/Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA70046108 rs_5030805

2 SubmittersRCV001382228RCV004590365

NM_000551.4(VHL):c.400G>T (p.Glu134Ter) SNV
Germline
Chr3:10146573 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351753995 rs_2125128363

2 SubmittersRCV001381653RCV005601773

NM_000551.4(VHL):c.354C>T (p.Leu118=) SNV
Germline
Chr3:10146527 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA70049406 rs_1051892430

3 SubmittersRCV001411728RCV003160644RCV005621101

NM_000551.4(VHL):c.357C>T (p.Phe119=) SNV
Germline
Chr3:10146530 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA432421796 rs_1559428077

3 SubmittersRCV001430668RCV004793489RCV005772190

NM_000551.4(VHL):c.383T>C (p.Leu128Pro) SNV
Germline
Chr3:10146556 Pathogenic/Likely pathogenic Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351753889 rs_2125128327

4 SubmittersRCV001577269RCV002359188RCV003316842RCV003771754

NM_000551.4(VHL):c.-45C>A SNV
Germline
Chr3:10141803 Conflicting classifications of pathogenicity Condition: not provided
Chuvash polycythemia
Von Hippel-Lindau syndrome
VHL-related disorder
Criteria Provided
Conflicting Classifications
CA70041986 rs_372483939

3 SubmittersRCV001715376RCV003771863RCV003968507

NM_000551.4(VHL):c.244C>G (p.Arg82Gly) SNV
Germline
Chr3:10142091 Pathogenic Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351750544 rs_1214305423

2 SubmittersRCV001724795RCV003771867

NM_000551.4(VHL):c.111G>C (p.Glu37Asp) SNV
Germline
Chr3:10141958 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351747799 rs_1398333169

3 SubmittersRCV001758273RCV001861065RCV005762340

NM_000551.4(VHL):c.242C>A (p.Pro81Gln) SNV
Germline
Chr3:10142089 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351750529 rs_193922608

3 SubmittersRCV001771461RCV001868619RCV004040282

NM_000551.4(VHL):c.602T>C (p.Leu201Pro) SNV
Germline
Chr3:10149925 Likely pathogenic Von Hippel-Lindau syndrome No Assertion Criteria Provided
CA351756590 rs_2125130793

1 SubmittersRCV001786527

NM_000551.4(VHL):c.131G>C (p.Gly44Ala) SNV
Germline
Chr3:10141978 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748061 rs_1056226386

2 SubmittersRCV002021926RCV004946976

NM_000551.4(VHL):c.143T>A (p.Leu48Gln) SNV
Germline
Chr3:10141990 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351748198 rs_199959170

3 SubmittersRCV001864672RCV005762385RCV006550594

NM_000551.4(VHL):c.193T>A (p.Ser65Thr) SNV
Germline
Chr3:10142040 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351748794 rs_869025616

1 SubmittersRCV001929631

NM_000551.4(VHL):c.463+3A>C SNV
Germline
Chr3:10146639 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA645525016 rs_1131690954

3 SubmittersRCV002337111RCV005925535RCV001999191

NM_000551.4(VHL):c.391A>T (p.Asn131Tyr) SNV
Germline
Chr3:10146564 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351753934 rs_2125128340

2 SubmittersRCV006554641RCV002034406

NM_000551.4(VHL):c.148G>C (p.Ala50Pro) SNV
Germline
Chr3:10141995 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA351748241 rs_1696124466

3 SubmittersRCV002050011RCV005513108RCV006258663

NM_000551.4(VHL):c.463+1G>T SNV
Germline
Chr3:10146637 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Clear cell carcinoma of kidney
Criteria Provided
Multiple Submitters
No Conflicts
CA16621935 rs_869025657

4 SubmittersRCV001972698RCV002331532RCV004044390RCV005925360

NM_000551.4(VHL):c.340+5G>A SNV
Germline
Chr3:10142192 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA1345066584 rs_61758376

2 SubmittersRCV001979981RCV004946927

NM_000551.4(VHL):c.37G>C (p.Val13Leu) SNV
Germline
Chr3:10141884 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351747145 rs_919338576

3 SubmittersRCV001927607RCV004804288RCV005298922

NM_000551.4(VHL):c.545G>T (p.Arg182Met) SNV
Germline
Chr3:10149868 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351756317 rs_749774529

3 SubmittersRCV001894758RCV004009230RCV005772248

NM_000551.4(VHL):c.574C>A (p.Pro192Thr) SNV
Germline
Chr3:10149897 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications
CA351756433 rs_28940300

2 SubmittersRCV001988653RCV003464363

NM_000551.4(VHL):c.158A>G (p.Glu53Gly) SNV
Germline
Chr3:10142005 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748429 rs_2125124854

2 SubmittersRCV001886409RCV005298913

NM_000551.4(VHL):c.475A>T (p.Lys159Ter) SNV
Germline
Chr3:10149798 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
VHL-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA351756080 rs_1575932011

3 SubmittersRCV002007406RCV003329425RCV004728985

NM_000551.4(VHL):c.340+630C>T SNV
Germline
Chr3:10142817 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
not specified
Criteria Provided
Conflicting Classifications
CA2573136101 rs_2125125896

2 SubmittersRCV001995759RCV004596504

NM_000551.4(VHL):c.553T>A (p.Tyr185Asn) SNV
Germline
Chr3:10149876 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Nonpapillary renal cell carcinoma
Pheochromocytoma
Criteria Provided
Conflicting Classifications
CA041587 rs_768390987

4 SubmittersRCV001905552RCV003470996RCV004785360RCV005038435

NM_000551.4(VHL):c.67T>G (p.Tyr23Asp) SNV
Germline
Chr3:10141914 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Pheochromocytoma
Nonpapillary renal cell carcinoma
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351747388 rs_1696118253

3 SubmittersRCV002001124RCV005032064RCV004946996

NM_000551.4(VHL):c.341-11T>A SNV
Germline
Chr3:10146503 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA645524868 rs_2125128187

1 SubmittersRCV001956145

NM_000551.4(VHL):c.148G>A (p.Ala50Thr) SNV
Germline
Chr3:10141995 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748226 rs_1696124466

2 SubmittersRCV001961707RCV004946953

NM_000551.4(VHL):c.513G>C (p.Lys171Asn) SNV
Germline
Chr3:10149836 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756203 rs_1365445365

4 SubmittersRCV001896326RCV003303309RCV004571553RCV004804285

NM_000551.4(VHL):c.131G>T (p.Gly44Val) SNV
Germline
Chr3:10141978 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748065 rs_1056226386

2 SubmittersRCV001882271RCV004041460

NM_000551.4(VHL):c.308C>T (p.Pro103Leu) SNV
Germline
Chr3:10142155 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351751083 rs_2125125299

2 SubmittersRCV002324453RCV001988554

NM_000551.4(VHL):c.589G>A (p.Asp197Asn) SNV
Germline
Chr3:10149912 Likely pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351756524 rs_1064794951

1 SubmittersRCV002251697

NM_000551.4(VHL):c.-1A>G SNV
Germline
Chr3:10141847 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA1044994608 rs_1165233721

3 SubmittersRCV002292084RCV002416559RCV004005595

NM_000551.4(VHL):c.388G>A (p.Val130Ile) SNV
Germline
Chr3:10146561 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA351753916 rs_104893830

3 SubmittersRCV002357396RCV003102470RCV005232954

NM_000551.4(VHL):c.406T>G (p.Phe136Val) SNV
Germline
Chr3:10146579 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351754039 rs_1696264108

2 SubmittersRCV002321463RCV003775806

NM_000551.4(VHL):c.335A>C (p.Tyr112Ser) SNV
Germline
Chr3:10142182 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Multiple Submitters
No Conflicts
CA351751356 rs_869025633

2 SubmittersRCV002321045RCV005213662

NM_000551.4(VHL):c.463+4C>G SNV
Germline
Chr3:10146640 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA1139768329 rs_879253989

2 SubmittersRCV002330407RCV005601897

NM_000551.4(VHL):c.487C>A (p.Leu163Ile) SNV
Germline
Chr3:10149810 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756131 rs_1553620318

3 SubmittersRCV002340459RCV003775986RCV006554654

NM_000551.4(VHL):c.584A>G (p.Gln195Arg) SNV
Germline
Chr3:10149907 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756496 rs_2470171278

2 SubmittersRCV002353321RCV003103239

NM_000551.4(VHL):c.201C>G (p.Asn67Lys) SNV
Germline
Chr3:10142048 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA039757 rs_769658318

3 SubmittersRCV002417451RCV003101012RCV006553305

NM_000551.4(VHL):c.-1A>T SNV
Germline
Chr3:10141847 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA541213516 rs_1165233721

2 SubmittersRCV002417119RCV005621196

NM_000551.4(VHL):c.302T>G (p.Leu101Arg) SNV
Germline
Chr3:10142149 Likely pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351751004 rs_1553619456

2 SubmittersRCV002435999RCV003455513

NM_000551.4(VHL):c.176C>T (p.Pro59Leu) SNV
Germline
Chr3:10142023 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351748662 rs_1696126408

2 SubmittersRCV003092741RCV004948980

NM_000551.4(VHL):c.633G>A (p.Met211Ile) SNV
Germline
Chr3:10149956 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351756701 rs_2125130877

3 SubmittersRCV002619566RCV006292321RCV006546379

NM_000551.4(VHL):c.361G>A (p.Asp121Asn) SNV
Germline
Chr3:10146534 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351753750 rs_2125128261

1 SubmittersRCV002651639

NM_000551.4(VHL):c.464T>G (p.Val155Gly) SNV
Germline
Chr3:10149787 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA16621938 rs_2125130449

1 SubmittersRCV002651640

NM_000551.4(VHL):c.259G>A (p.Val87Ile) SNV
Germline
Chr3:10142106 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA351750641 rs_2125125165

2 SubmittersRCV003112096RCV003162152

NM_000551.4(VHL):c.231C>A (p.Cys77Ter) SNV
Germline
Chr3:10142078 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351749279 rs_2125125069

1 SubmittersRCV002863461

NM_000551.4(VHL):c.341-2A>T SNV
Germline
Chr3:10146512 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Von Hippel-Lindau syndrome
Clear cell carcinoma of kidney
Criteria Provided
Multiple Submitters
No Conflicts
CA351753586 rs_869025637

3 SubmittersRCV002877178RCV003455591RCV005928672

NM_000551.4(VHL):c.161T>G (p.Met54Arg) SNV
Germline
Chr3:10142008 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351748469 rs_1575921544

1 SubmittersRCV002908478

NM_000551.4(VHL):c.349T>C (p.Trp117Arg) SNV
Germline
Chr3:10146522 Pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351753660 rs_1696261074

1 SubmittersRCV003017971

NM_000551.4(VHL):c.503G>A (p.Ser168Asn) SNV
Germline
Chr3:10149826 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA351756182 rs_2125130551

4 SubmittersRCV003017988RCV003465888RCV005288874RCV003317638

NM_000551.4(VHL):c.188T>G (p.Leu63Arg) SNV
Germline
Chr3:10142035 Likely pathogenic Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351748749 rs_104893827

3 SubmittersRCV003300745RCV005216033RCV006460575

NM_000551.4(VHL):c.*9G>C SNV
Germline
Chr3:10149974 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA042135 rs_764358108

2 SubmittersRCV003332732RCV005621245

NM_000551.4(VHL):c.292T>A (p.Tyr98Asn) SNV
Germline
Chr3:10142139 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351750883 rs_5030809

1 SubmittersRCV003388486

NM_000551.4(VHL):c.331A>C (p.Ser111Arg) SNV
Unknown
Chr3:10142178 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter
CA351751320 rs_1559426203

1 SubmittersRCV003450556

NM_000551.4(VHL):c.341-1G>T SNV
Unknown
Chr3:10146513 Pathogenic Von Hippel-Lindau syndrome
Clear cell carcinoma of kidney
Criteria Provided
Single Submitter
CA351753597 rs_1575927648

2 SubmittersRCV003452624RCV005927708

NM_000551.4(VHL):c.202T>C (p.Ser68Pro) SNV
Germline
Chr3:10142049 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA16621912 rs_2470158062

1 SubmittersRCV003780996

NM_000551.4(VHL):c.350G>C (p.Trp117Ser) SNV
Germline
Chr3:10146523 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351753671 rs_1559428056

1 SubmittersRCV003780998

NM_000551.4(VHL):c.464-2A>C SNV
Germline
Chr3:10149785 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351756024 rs_5030816

1 SubmittersRCV003781000

NM_000551.4(VHL):c.555C>A (p.Tyr185Ter) SNV
Germline
Chr3:10149878 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351756378 rs_864622109

1 SubmittersRCV003781002

NM_000551.4(VHL):c.341G>T (p.Gly114Val) SNV
Germline
Chr3:10146514 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351753604 rs_1559428039

1 SubmittersRCV003781367

NM_000551.4(VHL):c.319C>A (p.Arg107Ser) SNV
Germline
Chr3:10142166 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351751190 rs_397516440

1 SubmittersRCV003805279

NM_000551.4(VHL):c.340+2T>G SNV
Germline
Chr3:10142189 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351751384 rs_1407805768

1 SubmittersRCV003800681

NM_000551.4(VHL):c.162G>A (p.Met54Ile) SNV
Germline
Chr3:10142009 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351748478 rs_2125124863

1 SubmittersRCV003801970

NM_000551.4(VHL):c.220G>T (p.Val74Phe) SNV
Germline
Chr3:10142067 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351749164 rs_2125125032

1 SubmittersRCV003813709

NM_000551.4(VHL):c.118C>A (p.Pro40Thr) SNV
Germline
Chr3:10141965 Conflicting classifications of pathogenicity Chuvash polycythemia
Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA039380 rs_776399733

2 SubmittersRCV003809633RCV006292474

NM_000551.4(VHL):c.640T>C (p.Ter214Arg) SNV
Germline
Chr3:10149963 Likely pathogenic Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Single Submitter
CA351756719 rs_1575932781

1 SubmittersRCV003815631

NM_000551.4(VHL):c.460C>A (p.Pro154Thr) SNV
Germline
Chr3:10146633 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter
CA351754401 rs_1553619993

1 SubmittersRCV003807570

NM_000551.4(VHL):c.-13G>C SNV
Germline
Chr3:10141835 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome Criteria Provided
Conflicting Classifications
CA541213511 rs_1057522448

2 SubmittersRCV004012598

NM_000551.4(VHL):c.240T>A (p.Ser80Arg) SNV
Germline
Chr3:10142087 Likely pathogenic Von Hippel-Lindau syndrome
Hereditary cancer-predisposing syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA351750519 rs_1553619424

3 SubmittersRCV004440400RCV004440401

NM_000551.4(VHL):c.11G>A (p.Arg4Lys) SNV
Germline
Chr3:10141858 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications
CA351747022 rs_886057703

2 SubmittersRCV004520895RCV006551186

NM_000551.4(VHL):c.1A>C (p.Met1Leu) SNV
Germline
Chr3:10141848 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004790184RCV006565344

NM_000551.4(VHL):c.-10C>G SNV
Germline
Chr3:10141838 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome Criteria Provided
Conflicting Classifications

3 SubmittersRCV004802869

NM_000551.4(VHL):c.597G>C (p.Glu199Asp) SNV
Germline
Chr3:10149920 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV004950916RCV005218380

NM_000551.4(VHL):c.310G>C (p.Gly104Arg) SNV
Germline
Chr3:10142157 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Nonpapillary renal cell carcinoma
Pheochromocytoma
Chuvash polycythemia
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005031012RCV006564274

NM_000551.4(VHL):c.262T>G (p.Trp88Gly) SNV
Germline
Chr3:10142109 Conflicting classifications of pathogenicity Condition: not provided
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005052748RCV006564329

NM_000551.4(VHL):c.341-2A>C SNV
Germline
Chr3:10146512 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005228506

NM_000551.4(VHL):c.523T>A (p.Tyr175Asn) SNV
Germline
Chr3:10149846 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005228510

NM_000551.4(VHL):c.295C>T (p.Pro99Ser) SNV
Germline
Chr3:10142142 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005212007RCV005303531

NM_000551.4(VHL):c.368G>T (p.Gly123Val) SNV
Germline
Chr3:10146541 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005212008RCV005774765

NM_000551.4(VHL):c.485G>C (p.Cys162Ser) SNV
Germline
Chr3:10149808 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005212009

NM_000551.4(VHL):c.599G>C (p.Arg200Pro) SNV
Germline
Chr3:10149922 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV005212011

NM_000551.4(VHL):c.*70C>A SNV
Germline
Chr3:10150035 Likely pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005358555

NM_000551.4(VHL):c.58G>A (p.Val20Ile) SNV
Germline
Chr3:10141905 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Von Hippel-Lindau syndrome
Chuvash polycythemia
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005296816RCV006567306

NM_000551.4(VHL):c.637G>T (p.Asp213Tyr) SNV
Germline
Chr3:10149960 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005519194RCV006568192

NM_000551.4(VHL):c.398C>A (p.Thr133Asn) SNV
Germline
Chr3:10146571 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV005519205RCV006568193

NM_000551.4(VHL):c.341-3T>C SNV
Germline
Chr3:10146511 Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome
Chuvash polycythemia
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications

3 SubmittersRCV005621528RCV005860495RCV006568373

NM_000551.4(VHL):c.359G>A (p.Arg120Lys) SNV
Germline
Chr3:10146532 Likely pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005861944

NM_000551.4(VHL):c.340+1G>T SNV
Germline
Chr3:10142188 Pathogenic Von Hippel-Lindau syndrome Criteria Provided
Single Submitter

1 SubmittersRCV006272241

NM_000551.4(VHL):c.241C>A (p.Pro81Thr) SNV
Germline
Chr3:10142088 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Conflicting Classifications

2 SubmittersRCV006296029RCV006569433

NM_000551.4(VHL):c.226T>G (p.Phe76Val) SNV
Germline
Chr3:10142073 Likely pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV006599764

NM_000551.4(VHL):c.526A>T (p.Arg176Trp) SNV
Germline
Chr3:10149849 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV006599765

NM_000551.4(VHL):c.467A>C (p.Tyr156Ser) SNV
Germline
Chr3:10149790 Pathogenic Chuvash polycythemia
Von Hippel-Lindau syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV006595788